P61769 B2MG_HUMAN B2M Beta-2-microglobulin 119 13.7 15 Secreted; Cell surface 0 2 Immunodeficiency 43; Amyloidosis, hereditary systemic 6 1345 1 5 1986-07-21 P62873 GBB1_HUMAN GNB1 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 340 37.4 1 0 1 Intellectual developmental disorder, autosomal dominant 42 1204 1 5 1987-08-13 P00918 CAH2_HUMAN CA2 Carbonic anhydrase 2 260 29.2 8 4.2.1.1 Cytoplasm; Cell membrane 0 1 Osteopetrosis, autosomal recessive 3 1200 1 5 1986-07-21 P59768 GBG2_HUMAN GNG2 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 71 7.9 14 Cell membrane 0 0 1195 1 5 2003-07-11 O60885 BRD4_HUMAN BRD4 Bromodomain-containing protein 4 1362 152.2 19 Nucleus; Chromosome 0 1 Cornelia de Lange syndrome 6 618 1 5 2001-01-11 P62805 H4_HUMAN H4C1 Histone H4 103 11.4 1 Nucleus; Chromosome 0 4 Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1; Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2; Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3; Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4 618 1 5 1986-07-21 P63096 GNAI1_HUMAN GNAI1 Guanine nucleotide-binding protein G(i) subunit alpha-1 354 40.4 7 3.6.5.- Cell membrane; Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 601 1 5 1987-08-13 P68431 H31_HUMAN H3C1 Histone H3.1 136 15.4 6 Nucleus; Chromosome 0 1 Glioma 532 1 5 1986-07-21 P31947 1433S_HUMAN SFN 14-3-3 protein sigma 248 27.8 1 Cytoplasm; Nucleus; Secreted 0 0 524 1 5 1993-07-01 P24941 CDK2_HUMAN CDK2 Cyclin-dependent kinase 2 298 33.9 12 2.7.11.22 Cytoplasm; Nucleus; Endosome 0 0 521 1 5 1992-03-01 P01116 RASK_HUMAN KRAS GTPase KRas 189 21.7 12 3.6.5.2 Cell membrane; Endomembrane system; Cytoplasm 0 8 Leukemia, acute myelogenous; Leukemia, juvenile myelomonocytic; Noonan syndrome 3; Gastric cancer; Cardiofaciocutaneous syndrome 2; Oculoectodermal syndrome; Schimmelpenning-Feuerstein-Mims syndrome; RAS-associated autoimmune leukoproliferative disorder 2 488 1 5 1986-07-21 P03372 ESR1_HUMAN ESR1 Estrogen receptor 595 66.2 6 Nucleus; Golgi apparatus; Cell membrane 0 1 Estrogen resistance 478 1 5 1986-07-21 P63092 GNAS2_HUMAN GNAS Guanine nucleotide-binding protein G(s) subunit alpha isoforms short 394 45.7 20 3.6.5.- Cell membrane 0 7 Albright hereditary osteodystrophy; Pseudohypoparathyroidism 1A; McCune-Albright syndrome; Progressive osseous heteroplasia; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism 1B; Pseudohypoparathyroidism 1C 478 1 5 1987-08-13 P00734 THRB_HUMAN F2 Prothrombin 622 70 11 3.4.21.5 Secreted 0 4 Factor II deficiency; Ischemic stroke; Thrombophilia due to thrombin defect; Pregnancy loss, recurrent, 2 474 1 5 1986-07-21 P02766 TTHY_HUMAN TTR Transthyretin 147 15.9 18 Secreted; Cytoplasm 0 3 Amyloidosis, hereditary systemic 1; Hyperthyroxinemia, dystransthyretinemic; Carpal tunnel syndrome 1 459 1 5 1986-07-21 P07900 HS90A_HUMAN HSP90AA1 Heat shock protein HSP 90-alpha 732 84.7 14 3.6.4.10 Nucleus; Cytoplasm; Melanosome; Cell membrane; Mitochondrion 0 0 446 1 5 1988-08-01 P18031 PTN1_HUMAN PTPN1 Tyrosine-protein phosphatase non-receptor type 1 435 50 20 3.1.3.48 Endoplasmic reticulum membrane 0 0 435 1 5 1990-11-01 P06746 DPOLB_HUMAN POLB DNA polymerase beta 335 38.2 8 2.7.7.7 Nucleus; Cytoplasm 0 0 434 1 5 1988-01-01 P56817 BACE1_HUMAN BACE1 Beta-secretase 1 501 55.8 11 3.4.23.46 Cell membrane; Golgi apparatus; Endoplasmic reticulum; Endosome; Cell surface; Cytoplasmic vesicle membrane; Membrane raft; Lysosome; Late endosome; Early endosome; Recycling endosome; Cell projection 1 0 431 1 5 2000-05-30 P04439 HLAA_HUMAN HLA-A HLA class I histocompatibility antigen, A alpha chain 365 40.8 6 Cell membrane; Endoplasmic reticulum membrane 1 0 403 1 5 1987-08-13 P00533 EGFR_HUMAN EGFR Epidermal growth factor receptor 1210 134.3 7 2.7.10.1 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Nucleus membrane; Endosome; Endosome membrane; Nucleus 1 2 Lung cancer; Neonatal nephrocutaneous inflammatory syndrome 385 1 5 1986-07-21 P01308 INS_HUMAN INS Insulin 110 12 11 Secreted 0 4 Hyperproinsulinemia; Type 1 diabetes mellitus 2; Diabetes mellitus, permanent neonatal, 4; Maturity-onset diabetes of the young 10 382 1 5 1986-07-21 Q15596 NCOA2_HUMAN NCOA2 Nuclear receptor coactivator 2 1464 159.2 8 Nucleus 0 0 381 1 5 2001-02-21 P37231 PPARG_HUMAN PPARG Peroxisome proliferator-activated receptor gamma 505 57.6 3 Nucleus; Cytoplasm 0 3 Obesity; Lipodystrophy, familial partial, 3; Glioma 1 380 1 5 1994-10-01 Q9Y233 PDE10_HUMAN PDE10A cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A 1055 114.9 6 3.1.4.17 Cytoplasm 0 2 Dyskinesia, limb and orofacial, infantile-onset; Striatal degeneration, autosomal dominant 2 359 1 5 2000-05-30 P69905 HBA_HUMAN HBA1 Hemoglobin subunit alpha 142 15.3 16 0 3 Heinz body anemias; Alpha-thalassemia; Hemoglobin H disease 355 1 5 1986-07-21 P04908 H2A1B_HUMAN H2AC4 Histone H2A type 1-B/E 130 14.1 6 Nucleus; Chromosome 0 0 349 1 5 1987-08-13 P68871 HBB_HUMAN HBB Hemoglobin subunit beta 147 16 11 0 4 Heinz body anemias; Beta-thalassemia; Sickle cell disease; Beta-thalassemia, dominant, inclusion body type 348 1 5 1986-07-21 P0CG48 UBC_HUMAN UBC Polyubiquitin-C 685 77 12 Cytoplasm; Nucleus; Mitochondrion outer membrane 0 0 345 1 5 2010-08-10 Q9BYF1 ACE2_HUMAN ACE2 Angiotensin-converting enzyme 2 805 92.5 X 3.4.17.23 Cell membrane; Cytoplasm; Cell projection; Apical cell membrane 1 0 343 1 5 2005-08-02 P0DP23 CALM1_HUMAN CALM1 Calmodulin-1 149 16.8 14 Cytoplasm; Cell projection 0 2 Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 328 1 5 2017-05-10 P68400 CSK21_HUMAN CSNK2A1 Casein kinase II subunit alpha 391 45.1 20 2.7.11.1 Nucleus 0 1 Okur-Chung neurodevelopmental syndrome 320 1 5 2004-11-23 O95696 BRD1_HUMAN BRD1 Bromodomain-containing protein 1 1058 119.5 22 Nucleus; Chromosome 0 0 318 1 5 2001-01-11 Q6PJP8 DCR1A_HUMAN DCLRE1A DNA cross-link repair 1A protein 1040 116.4 10 Nucleus 0 0 318 1 5 2005-08-16 P04637 P53_HUMAN TP53 Cellular tumor antigen p53 393 43.7 17 Cytoplasm; Nucleus; Endoplasmic reticulum; Mitochondrion matrix 0 8 Esophageal cancer; Li-Fraumeni syndrome; Squamous cell carcinoma of the head and neck; Lung cancer; Papilloma of choroid plexus; Adrenocortical carcinoma; Basal cell carcinoma 7; Bone marrow failure syndrome 5 311 1 5 1987-08-13 P06899 H2B1J_HUMAN H2BC11 Histone H2B type 1-J 126 13.9 6 Nucleus; Chromosome 0 0 303 1 5 1988-01-01 Q15788 NCOA1_HUMAN NCOA1 Nuclear receptor coactivator 1 1441 156.8 2 2.3.1.48 Nucleus 0 0 300 1 5 2004-10-11 P10636 TAU_HUMAN MAPT Microtubule-associated protein tau 758 78.9 17 Cytoplasm; Cell membrane; Cell projection; Secreted 0 4 Frontotemporal dementia 1; Pick disease of the brain; Progressive supranuclear palsy 1; Parkinson-dementia syndrome 288 1 5 1989-07-01 Q6B0I6 KDM4D_HUMAN KDM4D Lysine-specific demethylase 4D 523 58.6 11 1.14.11.66 Nucleus 0 0 284 1 5 2006-05-16 P0CG47 UBB_HUMAN UBB Polyubiquitin-B 229 25.8 17 Cytoplasm; Nucleus; Mitochondrion outer membrane 0 0 275 1 5 2010-08-10 Q16539 MK14_HUMAN MAPK14 Mitogen-activated protein kinase 14 360 41.3 6 2.7.11.24 Cytoplasm; Nucleus 0 0 267 1 5 1997-11-01 Q9UIF8 BAZ2B_HUMAN BAZ2B Bromodomain adjacent to zinc finger domain protein 2B 2168 240.5 2 Nucleus 0 0 264 1 5 2002-08-30 P05067 A4_HUMAN APP Amyloid-beta precursor protein 770 86.9 21 Cell membrane; Membrane; Perikaryon; Cell projection; Early endosome; Cytoplasmic vesicle 1 2 Alzheimer disease 1; Cerebral amyloid angiopathy, APP-related 251 1 5 1987-08-13 P15090 FABP4_HUMAN FABP4 Fatty acid-binding protein, adipocyte 132 14.7 8 Cytoplasm; Nucleus 0 0 248 1 5 1990-04-01 P41182 BCL6_HUMAN BCL6 B-cell lymphoma 6 protein 706 78.8 3 Nucleus 0 0 246 1 5 1995-02-01 P01112 RASH_HUMAN HRAS GTPase HRas 189 21.3 11 3.6.5.2 Cell membrane; Golgi apparatus; Golgi apparatus membrane 0 5 Costello syndrome; Congenital myopathy with excess of muscle spindles; Thyroid cancer, non-medullary, 2; Bladder cancer; Schimmelpenning-Feuerstein-Mims syndrome 245 1 5 1986-07-21 Q9Y253 POLH_HUMAN POLH DNA polymerase eta 713 78.4 6 2.7.7.7 Nucleus 0 1 Xeroderma pigmentosum variant type 241 1 5 2005-02-15 P62979 RS27A_HUMAN RPS27A Ubiquitin-ribosomal protein eS31 fusion protein 156 18 2 Cytoplasm; Nucleus 0 0 240 1 5 2004-08-31 P01889 HLAB_HUMAN HLA-B HLA class I histocompatibility antigen, B alpha chain 362 40.5 6 Cell membrane; Endoplasmic reticulum membrane 1 2 Stevens-Johnson syndrome; Spondyloarthropathy 1 237 1 5 1986-07-21 P37840 SYUA_HUMAN SNCA Alpha-synuclein 140 14.5 4 Cytoplasm; Membrane; Nucleus; Synapse; Secreted; Cell projection 0 3 Parkinson disease 1, autosomal dominant; Parkinson disease 4, autosomal dominant; Dementia, Lewy body 227 1 5 1994-10-01 Q15370 ELOB_HUMAN ELOB Elongin-B 118 13.1 16 Nucleus 0 0 227 1 5 2003-07-11 Q15369 ELOC_HUMAN ELOC Elongin-C 112 12.5 8 Nucleus 0 0 223 1 5 2003-07-11 P01857 IGHG1_HUMAN IGHG1 Immunoglobulin heavy constant gamma 1 399 43.9 14 Secreted 1 1 Multiple myeloma 216 1 5 1986-07-21 P61626 LYSC_HUMAN LYZ Lysozyme C 148 16.5 12 3.2.1.17 Secreted 0 1 Amyloidosis, hereditary systemic 5 215 1 5 1986-07-21 Q16531 DDB1_HUMAN DDB1 DNA damage-binding protein 1 1140 127 11 Cytoplasm; Nucleus 0 1 White-Kernohan syndrome 201 1 5 2001-01-11 P62937 PPIA_HUMAN PPIA Peptidyl-prolyl cis-trans isomerase A 165 18 7 5.2.1.8 Cytoplasm; Secreted; Nucleus; Cell membrane 0 0 201 1 5 1987-08-13 Q9H2K2 TNKS2_HUMAN TNKS2 Poly [ADP-ribose] polymerase tankyrase-2 1166 126.9 10 2.4.2.30 Cytoplasm; Golgi apparatus membrane; Nucleus; Chromosome 0 0 197 1 5 2002-03-27 P62753 RS6_HUMAN RPS6 Small ribosomal subunit protein eS6 249 28.7 9 Cytoplasm; Nucleus 0 0 193 1 5 1988-08-01 O14965 AURKA_HUMAN AURKA Aurora kinase A 403 45.8 20 2.7.11.1 Cytoplasm; Cell projection; Basolateral cell membrane 0 0 193 1 5 2003-01-27 P62277 RS13_HUMAN RPS13 Small ribosomal subunit protein uS15 151 17.2 11 Cytoplasm; Nucleus 0 0 192 1 5 2004-07-05 P61964 WDR5_HUMAN WDR5 WD repeat-containing protein 5 334 36.6 9 Nucleus 0 0 192 1 5 2004-06-07 P61247 RS3A_HUMAN RPS3A Small ribosomal subunit protein eS1 264 29.9 4 Cytoplasm; Nucleus 0 0 191 1 5 2004-05-10 P08708 RS17_HUMAN RPS17 Small ribosomal subunit protein eS17 135 15.6 15 Cytoplasm; Nucleus 0 1 Diamond-Blackfan anemia 4 191 1 5 1988-01-01 P11309 PIM1_HUMAN PIM1 Serine/threonine-protein kinase pim-1 313 35.7 6 2.7.11.1 Cytoplasm; Nucleus 0 0 191 1 5 1989-07-01 P02768 ALBU_HUMAN ALB Albumin 609 69.4 4 Secreted 0 2 Hyperthyroxinemia, familial dysalbuminemic; Analbuminemia 189 1 5 1986-07-21 P42677 RS27_HUMAN RPS27 Small ribosomal subunit protein eS27 84 9.5 1 Cytoplasm; Nucleus 0 1 Diamond-Blackfan anemia 17 189 1 5 1995-11-01 P62847 RS24_HUMAN RPS24 Small ribosomal subunit protein eS24 133 15.4 10 Cytoplasm; Nucleus 0 1 Diamond-Blackfan anemia 3 189 1 5 2004-08-16 P62081 RS7_HUMAN RPS7 Small ribosomal subunit protein eS7 194 22.1 2 Cytoplasm; Nucleus 0 1 Diamond-Blackfan anemia 8 189 1 5 2004-06-21 P62241 RS8_HUMAN RPS8 Small ribosomal subunit protein eS8 208 24.2 1 Cytoplasm; Membrane; Nucleus 0 0 189 1 5 2004-07-05 P62857 RS28_HUMAN RPS28 Small ribosomal subunit protein eS28 69 7.8 19 Cytoplasm; Rough endoplasmic reticulum; Nucleus 0 1 Diamond-Blackfan anemia 15, with mandibulofacial dysostosis 188 1 5 2004-08-16 P46781 RS9_HUMAN RPS9 Small ribosomal subunit protein uS4 194 22.6 19 Cytoplasm; Nucleus 0 0 188 1 5 1995-11-01 P62244 RS15A_HUMAN RPS15A Small ribosomal subunit protein uS8 130 14.8 16 Cytoplasm; Nucleus 0 1 Diamond-Blackfan anemia 20 188 1 5 2004-07-05 P62263 RS14_HUMAN RPS14 Small ribosomal subunit protein uS11 151 16.3 5 Cytoplasm; Nucleus 0 0 188 1 5 1988-01-01 P62280 RS11_HUMAN RPS11 Small ribosomal subunit protein uS17 158 18.4 19 Cytoplasm; Nucleus 0 0 187 1 5 1987-08-13 P00742 FA10_HUMAN F10 Coagulation factor X 488 54.7 13 3.4.21.6 Secreted 0 1 Factor X deficiency 187 1 5 1986-07-21 P46782 RS5_HUMAN RPS5 Small ribosomal subunit protein uS7 204 22.9 19 Cytoplasm; Nucleus 0 0 187 1 5 1995-11-01 P08865 RSSA_HUMAN RPSA Small ribosomal subunit protein uS2 295 32.9 3 Cell membrane; Cytoplasm; Nucleus 0 1 Asplenia, isolated congenital 186 1 5 1988-11-01 P62249 RS16_HUMAN RPS16 Small ribosomal subunit protein uS9 146 16.4 19 Cytoplasm; Nucleus 0 0 186 1 5 2004-07-05 Q13526 PIN1_HUMAN PIN1 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 163 18.2 19 5.2.1.8 Nucleus; Nucleus speckle; Cytoplasm 0 0 186 1 5 1998-07-15 P62269 RS18_HUMAN RPS18 Small ribosomal subunit protein uS13 152 17.7 6 Cytoplasm 0 0 185 1 5 2004-07-05 P15880 RS2_HUMAN RPS2 Small ribosomal subunit protein uS5 293 31.3 16 Cytoplasm; Nucleus 0 0 184 1 5 1990-04-01 P39019 RS19_HUMAN RPS19 Small ribosomal subunit protein eS19 145 16.1 19 Cytoplasm; Nucleus 0 1 Diamond-Blackfan anemia 1 184 1 5 1995-02-01 P62701 RS4X_HUMAN RPS4X Small ribosomal subunit protein eS4, X isoform 263 29.6 X Cytoplasm; Nucleus 0 0 184 1 5 2004-07-19 P63220 RS21_HUMAN RPS21 Small ribosomal subunit protein eS21 83 9.1 20 Cytoplasm; Rough endoplasmic reticulum 0 0 184 1 5 2004-09-27 P62851 RS25_HUMAN RPS25 Small ribosomal subunit protein eS25 125 13.7 11 Cytoplasm 0 0 183 1 5 2004-08-16 P62841 RS15_HUMAN RPS15 Small ribosomal subunit protein uS19 145 17 19 Cytoplasm 0 0 182 1 5 2004-08-16 P62861 RS30_HUMAN FAU Ubiquitin-like FUBI-ribosomal protein eS30 fusion protein 133 14.4 11 Cytoplasm; Nucleus 0 0 182 1 5 2004-08-16 P62266 RS23_HUMAN RPS23 Small ribosomal subunit protein uS12 143 15.8 5 Cytoplasm; Rough endoplasmic reticulum; Nucleus 0 1 Brachycephaly, trichomegaly, and developmental delay 181 1 5 2004-07-05 P63244 RACK1_HUMAN RACK1 Small ribosomal subunit protein RACK1 317 35.1 5 Cell membrane; Cytoplasm; Nucleus; Perikaryon; Cell projection 0 0 178 1 5 2004-10-11 P15121 ALDR_HUMAN AKR1B1 Aldo-keto reductase family 1 member B1 316 35.9 7 1.1.1.21, 1.1.1.300, 1.1.1.372, 1.1.1.54 Cytoplasm 0 0 177 1 5 1990-04-01 P23396 RS3_HUMAN RPS3 Small ribosomal subunit protein uS3 243 26.7 11 Cytoplasm; Nucleus; Mitochondrion inner membrane 0 0 176 1 5 1991-11-01 P25398 RS12_HUMAN RPS12 Small ribosomal subunit protein eS12 132 14.5 6 Cytoplasm; Nucleus 0 0 175 1 5 1992-05-01 P25440 BRD2_HUMAN BRD2 Bromodomain-containing protein 2 801 88.1 6 Nucleus; Chromosome 0 0 174 1 5 1992-05-01 P46783 RS10_HUMAN RPS10 Small ribosomal subunit protein eS10 165 18.9 6 Cytoplasm; Nucleus 0 1 Diamond-Blackfan anemia 9 174 1 5 1995-11-01 P62273 RS29_HUMAN RPS29 Small ribosomal subunit protein uS14 56 6.7 14 Cytoplasm; Rough endoplasmic reticulum 0 1 Diamond-Blackfan anemia 13 174 1 5 2004-07-05 P60866 RS20_HUMAN RPS20 Small ribosomal subunit protein uS10 119 13.4 8 Cytoplasm 0 0 173 1 5 2004-04-13 P62424 RL7A_HUMAN RPL7A Large ribosomal subunit protein eL8 266 30 9 Cytoplasm 0 0 173 1 5 2004-07-05 P36578 RL4_HUMAN RPL4 Large ribosomal subunit protein uL4 427 47.7 15 Cytoplasm 0 0 172 1 5 1994-06-01 P42766 RL35_HUMAN RPL35 Large ribosomal subunit protein uL29 123 14.6 9 Cytoplasm 0 1 Diamond-Blackfan anemia 19 172 1 5 1995-11-01 P62987 RL40_HUMAN UBA52 Ubiquitin-ribosomal protein eL40 fusion protein 128 14.7 19 Cytoplasm; Nucleus 0 0 172 1 5 2004-08-31 P25788 PSA3_HUMAN PSMA3 Proteasome subunit alpha type-3 255 28.4 14 Cytoplasm; Nucleus 0 0 171 1 5 1992-05-01 P62750 RL23A_HUMAN RPL23A Large ribosomal subunit protein uL23 156 17.7 17 Cytoplasm; Nucleus 0 0 171 1 5 2004-08-16 P20618 PSB1_HUMAN PSMB1 Proteasome subunit beta type-1 241 26.5 6 Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with microcephaly, hypotonia, and absent language 170 1 5 1991-02-01 P61254 RL26_HUMAN RPL26 Large ribosomal subunit protein uL24 145 17.3 17 Cytoplasm 0 1 Diamond-Blackfan anemia 11 170 1 5 2004-05-10 Q02878 RL6_HUMAN RPL6 Large ribosomal subunit protein eL6 288 32.7 12 Cytoplasm; Rough endoplasmic reticulum 0 0 170 1 5 1993-07-01 O14818 PSA7_HUMAN PSMA7 Proteasome subunit alpha type-7 248 27.9 20 Cytoplasm; Nucleus 0 0 169 1 5 2000-12-08 P25787 PSA2_HUMAN PSMA2 Proteasome subunit alpha type-2 234 25.9 7 Cytoplasm; Nucleus 0 0 169 1 5 1992-05-01 P25786 PSA1_HUMAN PSMA1 Proteasome subunit alpha type-1 263 29.6 11 Cytoplasm; Nucleus 0 0 169 1 5 1992-05-01 Q07020 RL18_HUMAN RPL18 Large ribosomal subunit protein eL18 188 21.6 19 Cytoplasm; Rough endoplasmic reticulum 0 1 Diamond-Blackfan anemia 18 169 1 5 1994-06-01 P25789 PSA4_HUMAN PSMA4 Proteasome subunit alpha type-4 261 29.5 15 Cytoplasm; Nucleus 0 0 169 1 5 1992-05-01 P28066 PSA5_HUMAN PSMA5 Proteasome subunit alpha type-5 241 26.4 1 Cytoplasm; Nucleus 0 0 169 1 5 1992-08-01 P18621 RL17_HUMAN RPL17 Large ribosomal subunit protein uL22 184 21.4 18 Cytoplasm 0 1 Diamond-Blackfan anemia 22 168 1 5 1990-11-01 P60900 PSA6_HUMAN PSMA6 Proteasome subunit alpha type-6 246 27.4 14 Cytoplasm; Nucleus 0 0 168 1 5 2004-04-13 P18124 RL7_HUMAN RPL7 Large ribosomal subunit protein uL30 248 29.2 8 Cytoplasm 0 0 167 1 5 1990-11-01 P40429 RL13A_HUMAN RPL13A Large ribosomal subunit protein uL13 203 23.6 19 Cytoplasm 0 0 167 1 5 1995-02-01 P62910 RL32_HUMAN RPL32 Large ribosomal subunit protein eL32 135 15.9 3 Cytoplasm 0 0 167 1 5 1986-07-21 Q02543 RL18A_HUMAN RPL18A Large ribosomal subunit protein eL20 176 20.8 19 Cytoplasm 0 0 167 1 5 1994-06-01 Q9Y3U8 RL36_HUMAN RPL36 Large ribosomal subunit protein eL36 105 12.3 19 Cytoplasm 0 0 167 1 5 2000-05-30 P18077 RL35A_HUMAN RPL35A Large ribosomal subunit protein eL33 110 12.5 3 Cytoplasm 0 1 Diamond-Blackfan anemia 5 167 1 5 1990-11-01 P46778 RL21_HUMAN RPL21 Large ribosomal subunit protein eL21 160 18.6 13 Cytoplasm; Endoplasmic reticulum 0 1 Hypotrichosis 12 167 1 5 1995-11-01 P46779 RL28_HUMAN RPL28 Large ribosomal subunit protein eL28 137 15.7 19 Cytoplasm 0 0 167 1 5 1995-11-01 P39023 RL3_HUMAN RPL3 Large ribosomal subunit protein uL3 403 46.1 22 Nucleus; Cytoplasm 0 0 166 1 5 1995-02-01 P46776 RL27A_HUMAN RPL27A Large ribosomal subunit protein uL15 148 16.6 11 Cytoplasm 0 0 166 1 5 1995-11-01 P32969 RL9_HUMAN RPL9 Large ribosomal subunit protein uL6 192 21.9 4 Cytoplasm 0 0 166 1 5 1993-10-01 P50914 RL14_HUMAN RPL14 Large ribosomal subunit protein eL14 215 23.4 3 Cytoplasm 0 0 166 1 5 1996-10-01 P61927 RL37_HUMAN RPL37 Large ribosomal subunit protein eL37 97 11.1 5 Cytoplasm 0 0 165 1 5 1986-07-21 P61313 RL15_HUMAN RPL15 Large ribosomal subunit protein eL15 204 24.1 3 Cytoplasm 0 1 Diamond-Blackfan anemia 12 165 1 5 2004-05-10 P26373 RL13_HUMAN RPL13 Large ribosomal subunit protein eL13 211 24.3 16 Cytoplasm 0 1 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 165 1 5 1992-08-01 P62854 RS26_HUMAN RPS26 Small ribosomal subunit protein eS26 115 13 12 Cytoplasm; Rough endoplasmic reticulum 0 1 Diamond-Blackfan anemia 10 165 1 5 2004-08-16 P62829 RL23_HUMAN RPL23 Large ribosomal subunit protein uL14 140 14.9 17 Cytoplasm 0 0 164 1 5 2004-08-16 O60674 JAK2_HUMAN JAK2 Tyrosine-protein kinase JAK2 1132 130.7 9 2.7.10.2 Endomembrane system; Cytoplasm; Nucleus 0 5 Budd-Chiari syndrome; Polycythemia vera; Thrombocythemia 3; Myelofibrosis; Leukemia, acute myelogenous 164 1 5 1998-12-15 O14757 CHK1_HUMAN CHEK1 Serine/threonine-protein kinase Chk1 476 54.4 11 2.7.11.1 Nucleus; Chromosome; Cytoplasm 0 1 Oocyte/zygote/embryo maturation arrest 21 163 1 5 2000-05-30 P84098 RL19_HUMAN RPL19 Large ribosomal subunit protein eL19 196 23.5 17 Cytoplasm 0 0 163 1 5 2004-08-16 P62945 RS32_HUMAN RPL41 Small ribosomal subunit protein eS32 25 3.5 12 Cytoplasm 0 0 161 1 5 2004-08-31 P63173 RL38_HUMAN RPL38 Large ribosomal subunit protein eL38 70 8.2 17 Cytoplasm 0 0 161 1 5 2004-09-27 P51449 RORG_HUMAN RORC Nuclear receptor ROR-gamma 518 58.2 1 Nucleus 0 1 Immunodeficiency 42 160 1 5 1996-10-01 Q99436 PSB7_HUMAN PSMB7 Proteasome subunit beta type-7 277 30 9 3.4.25.1 Cytoplasm; Nucleus 0 0 160 1 5 2001-10-18 P28482 MK01_HUMAN MAPK1 Mitogen-activated protein kinase 1 360 41.4 22 2.7.11.24 Cytoplasm; Nucleus; Membrane; Cell junction 0 1 Noonan syndrome 13 160 1 5 1992-12-01 P62899 RL31_HUMAN RPL31 Large ribosomal subunit protein eL31 125 14.5 2 Cytoplasm 0 0 159 1 5 2004-08-31 P01848 TRAC_HUMAN TRAC T cell receptor alpha chain constant 140 15.7 Cell membrane 1 1 Immunodeficiency 7 158 1 5 1986-07-21 P49207 RL34_HUMAN RPL34 Large ribosomal subunit protein eL34 117 13.3 4 Cytoplasm; Endoplasmic reticulum 0 0 158 1 5 1996-02-01 P62888 RL30_HUMAN RPL30 Large ribosomal subunit protein eL30 115 12.8 8 Cytoplasm 0 0 158 1 5 1987-08-13 P62913 RL11_HUMAN RPL11 Large ribosomal subunit protein uL5 178 20.3 1 Nucleus; Cytoplasm 0 1 Diamond-Blackfan anemia 7 158 1 5 2004-08-31 P46777 RL5_HUMAN RPL5 Large ribosomal subunit protein uL18 297 34.4 1 Cytoplasm; Nucleus 0 1 Diamond-Blackfan anemia 6 157 1 5 1995-11-01 P00749 UROK_HUMAN PLAU Urokinase-type plasminogen activator 431 48.5 10 3.4.21.73 Secreted 0 1 Quebec platelet disorder 156 1 5 1986-07-21 P00441 SODC_HUMAN SOD1 Superoxide dismutase [Cu-Zn] 154 15.9 21 1.15.1.1, 1.8.-.- Cytoplasm; Nucleus 0 2 Amyotrophic lateral sclerosis 1; Spastic tetraplegia and axial hypotonia, progressive 156 1 5 1986-07-21 P61513 RL37A_HUMAN RPL37A Large ribosomal subunit protein eL43 92 10.3 2 Cytoplasm 0 0 155 1 5 2004-05-24 P61353 RL27_HUMAN RPL27 Large ribosomal subunit protein eL27 136 15.8 17 Cytoplasm; Rough endoplasmic reticulum 0 1 Diamond-Blackfan anemia 16 154 1 5 1988-08-01 P62891 RL39_HUMAN RPL39 Large ribosomal subunit protein eL39 51 6.4 X Cytoplasm 0 0 154 1 5 1986-07-21 P62917 RL8_HUMAN RPL8 Large ribosomal subunit protein uL2 257 28 8 Cytoplasm 0 0 154 1 5 2004-08-31 Q71DI3 H32_HUMAN H3C15 Histone H3.2 136 15.4 1 Nucleus; Chromosome 0 0 153 1 5 2006-09-19 P16442 BGAT_HUMAN ABO Histo-blood group ABO system transferase 354 40.9 Golgi apparatus; Secreted 1 0 151 1 5 1990-08-01 P28074 PSB5_HUMAN PSMB5 Proteasome subunit beta type-5 263 28.5 14 3.4.25.1 Cytoplasm; Nucleus 0 0 150 1 5 1992-08-01 P17931 LEG3_HUMAN LGALS3 Galectin-3 250 26.2 14 Cytoplasm; Nucleus; Secreted 0 0 150 1 5 1990-11-01 P49720 PSB3_HUMAN PSMB3 Proteasome subunit beta type-3 205 22.9 17 Cytoplasm; Nucleus 0 0 149 1 5 1996-10-01 P49721 PSB2_HUMAN PSMB2 Proteasome subunit beta type-2 201 22.8 1 Cytoplasm; Nucleus 0 0 148 1 5 1996-10-01 Q00987 MDM2_HUMAN MDM2 E3 ubiquitin-protein ligase Mdm2 491 55.2 12 2.3.2.27 Nucleus; Cytoplasm 0 1 Lessel-Kubisch syndrome 147 1 5 1993-04-01 P47914 RL29_HUMAN RPL29 Large ribosomal subunit protein eL29 159 17.8 3 Cytoplasm 0 0 146 1 5 1996-02-01 Q8WWQ0 PHIP_HUMAN PHIP PH-interacting protein 1821 206.7 6 Nucleus 0 1 Chung-Jansen syndrome 146 1 5 2007-08-21 P02794 FRIH_HUMAN FTH1 Ferritin heavy chain 183 21.2 11 1.16.3.1 Cytoplasm; Lysosome; Cytoplasmic vesicle 0 2 Hemochromatosis 5; Neurodegeneration with brain iron accumulation 9 145 1 5 1986-07-21 P07550 ADRB2_HUMAN ADRB2 Beta-2 adrenergic receptor 413 46.5 5 Cell membrane; Golgi apparatus 7 0 145 1 5 1988-04-01 P28070 PSB4_HUMAN PSMB4 Proteasome subunit beta type-4 264 29.2 1 Cytoplasm; Nucleus 0 1 Proteasome-associated autoinflammatory syndrome 3 144 1 5 1992-08-01 Q92793 CBP_HUMAN CREBBP CREB-binding protein 2442 265.4 16 Cytoplasm; Nucleus 0 2 Rubinstein-Taybi syndrome 1; Menke-Hennekam syndrome 1 144 1 5 1998-07-15 P55072 TERA_HUMAN VCP Transitional endoplasmic reticulum ATPase 806 89.3 9 3.6.4.6 Cytoplasm; Endoplasmic reticulum; Nucleus 0 3 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; Frontotemporal dementia and/or amyotrophic lateral sclerosis 6; Charcot-Marie-Tooth disease, axonal, type 2Y 143 1 5 1996-10-01 Q07820 MCL1_HUMAN MCL1 Induced myeloid leukemia cell differentiation protein Mcl-1 350 37.3 1 Membrane; Cytoplasm; Mitochondrion; Nucleus 1 0 143 1 5 1995-02-01 P40337 VHL_HUMAN VHL von Hippel-Lindau disease tumor suppressor 213 24.2 3 Cytoplasm; Cell membrane; Endoplasmic reticulum; Nucleus 0 4 Pheochromocytoma; von Hippel-Lindau disease; Erythrocytosis, familial, 2; Renal cell carcinoma 142 1 5 1995-02-01 Q6P988 NOTUM_HUMAN NOTUM Palmitoleoyl-protein carboxylesterase NOTUM 496 55.7 17 3.1.1.98 Secreted 0 0 141 1 5 2008-02-26 P01903 DRA_HUMAN HLA-DRA HLA class II histocompatibility antigen, DR alpha chain 254 28.6 6 Cell membrane; Endoplasmic reticulum membrane; Early endosome membrane; Late endosome membrane; Lysosome membrane; Autolysosome membrane 1 0 140 1 5 1986-07-21 P28072 PSB6_HUMAN PSMB6 Proteasome subunit beta type-6 239 25.4 17 3.4.25.1 Cytoplasm; Nucleus 0 0 140 1 5 1992-08-01 P34913 HYES_HUMAN EPHX2 Bifunctional epoxide hydrolase 2 555 62.6 8 Cytoplasm; Peroxisome 0 0 139 1 5 1994-02-01 P62826 RAN_HUMAN RAN GTP-binding nuclear protein Ran 216 24.4 12 3.6.5.- Nucleus; Nucleus envelope; Cytoplasm; Melanosome 0 0 138 1 5 2004-08-16 Q13451 FKBP5_HUMAN FKBP5 Peptidyl-prolyl cis-trans isomerase FKBP5 457 51.2 6 5.2.1.8 Cytoplasm; Nucleus 0 0 138 1 5 1997-11-01 P42574 CASP3_HUMAN CASP3 Caspase-3 277 31.6 4 3.4.22.56 Cytoplasm 0 0 135 1 5 1995-11-01 Q06187 BTK_HUMAN BTK Tyrosine-protein kinase BTK 659 76.3 X 2.7.10.2 Cytoplasm; Cell membrane; Nucleus; Membrane raft 0 2 X-linked agammaglobulinemia; Growth hormone deficiency, isolated, 3, with agammaglobulinemia 133 1 5 1994-06-01 P83881 RL36A_HUMAN RPL36A Large ribosomal subunit protein eL42 106 12.4 X Cytoplasm 0 0 132 1 5 2004-05-10 P35268 RL22_HUMAN RPL22 Large ribosomal subunit protein eL22 128 14.8 1 Cytoplasm 0 0 132 1 5 1994-02-01 P15056 BRAF_HUMAN BRAF Serine/threonine-protein kinase B-raf 766 84.4 7 2.7.11.1 Nucleus; Cytoplasm; Cell membrane 0 6 Colorectal cancer; Lung cancer; Familial non-Hodgkin lymphoma; Cardiofaciocutaneous syndrome 1; Noonan syndrome 7; LEOPARD syndrome 3 131 1 5 1990-11-01 P61586 RHOA_HUMAN RHOA Transforming protein RhoA 193 21.8 3 3.6.5.2 Cell membrane; Cytoplasm; Cleavage furrow; Midbody; Cell projection; Nucleus 0 1 Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 130 1 5 1988-01-01 Q9NP87 DPOLM_HUMAN POLM DNA-directed DNA/RNA polymerase mu 494 54.8 7 2.7.7.7 Nucleus 0 0 129 1 5 2001-11-16 P08581 MET_HUMAN MET Hepatocyte growth factor receptor 1390 155.5 7 2.7.10.1 Membrane 1 5 Hepatocellular carcinoma; Renal cell carcinoma papillary; Deafness, autosomal recessive, 97; Osteofibrous dysplasia; Arthrogryposis, distal, 11 129 1 5 1988-08-01 O60341 KDM1A_HUMAN KDM1A Lysine-specific histone demethylase 1A 852 92.9 1 1.14.11.-, 1.14.11.65, 1.14.99.66 Nucleus; Chromosome 0 2 Cleft palate, psychomotor retardation, and distinctive facial features; ACTH-independent macronodular adrenal hyperplasia 3 128 1 5 2004-08-16 P35998 PRS7_HUMAN PSMC2 26S proteasome regulatory subunit 7 433 48.6 7 Cytoplasm 0 0 127 1 5 1994-06-01 P43686 PRS6B_HUMAN PSMC4 26S proteasome regulatory subunit 6B 418 47.4 19 Cytoplasm; Nucleus 0 0 127 1 5 1995-11-01 P62195 PRS8_HUMAN PSMC5 26S proteasome regulatory subunit 8 406 45.6 17 Cytoplasm; Nucleus 0 1 Yu-Kury neurodevelopmental syndrome 127 1 5 2004-06-21 P17980 PRS6A_HUMAN PSMC3 26S proteasome regulatory subunit 6A 439 49.2 11 Cytoplasm; Nucleus 0 2 Deafness, cataract, impaired intellectual development, and polyneuropathy; Ebstein-Bezieau neurodevelopmental syndrome 126 1 5 1990-11-01 P62191 PRS4_HUMAN PSMC1 26S proteasome regulatory subunit 4 440 49.2 14 Cytoplasm; Nucleus; Membrane 0 1 Birk-Aharoni syndrome 126 1 5 2004-06-21 P42336 PK3CA_HUMAN PIK3CA Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform 1068 124.3 3 2.7.1.137, 2.7.1.153 0 12 Colorectal cancer; Breast cancer; Ovarian cancer; Hepatocellular carcinoma; Keratosis, seborrheic; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; Cowden syndrome 5; CLAPO syndrome; Macrodactyly; Cerebral cavernous malformations 4; Hemifacial myohyperplasia 125 1 5 1995-11-01 P55036 PSMD4_HUMAN PSMD4 26S proteasome non-ATPase regulatory subunit 4 377 40.7 1 0 0 124 1 5 1996-10-01 P36639 8ODP_HUMAN NUDT1 Oxidized purine nucleoside triphosphate hydrolase 156 18 7 3.6.1.56 Cytoplasm; Mitochondrion matrix; Nucleus 0 0 124 1 5 1994-06-01 P60896 SEM1_HUMAN SEM1 26S proteasome complex subunit SEM1 70 8.3 7 Nucleus 0 0 122 1 5 2004-04-13 Q14145 KEAP1_HUMAN KEAP1 Kelch-like ECH-associated protein 1 624 69.7 19 Cytoplasm; Nucleus 0 0 122 1 5 2001-04-27 P08684 CP3A4_HUMAN CYP3A4 Cytochrome P450 3A4 503 57.3 7 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 1 1 Vitamin D-dependent rickets 3 122 1 5 1988-01-01 P23497 SP100_HUMAN SP100 Nuclear autoantigen Sp-100 879 100.4 2 Nucleus; Cytoplasm 0 0 122 1 5 1991-11-01 Q08499 PDE4D_HUMAN PDE4D 3',5'-cyclic-AMP phosphodiesterase 4D 809 91.1 5 3.1.4.53 Apical cell membrane; Cytoplasm; Membrane 0 1 Acrodysostosis 2, with or without hormone resistance 122 1 5 1996-10-01 P49841 GSK3B_HUMAN GSK3B Glycogen synthase kinase-3 beta 420 46.7 3 2.7.11.26 Cytoplasm; Nucleus; Cell membrane 0 0 122 1 5 1996-10-01 P05106 ITB3_HUMAN ITGB3 Integrin beta-3 788 87.1 17 Cell membrane; Cell projection; Cell junction; Postsynaptic cell membrane; Synapse 1 3 Fetomaternal alloimmune thrombocytopenia 1; Glanzmann thrombasthenia 2; Bleeding disorder, platelet-type, 24 121 1 5 1987-08-13 P29475 NOS1_HUMAN NOS1 Nitric oxide synthase 1 1434 161 12 1.14.13.39 Cell membrane; Cell projection 0 0 121 1 5 1993-04-01 Q99460 PSMD1_HUMAN PSMD1 26S proteasome non-ATPase regulatory subunit 1 953 105.8 2 0 0 121 1 5 1998-12-15 Q6PL18 ATAD2_HUMAN ATAD2 ATPase family AAA domain-containing protein 2 1390 158.6 8 3.6.1.- Nucleus 0 0 120 1 5 2005-09-13 Q13200 PSMD2_HUMAN PSMD2 26S proteasome non-ATPase regulatory subunit 2 908 100.2 3 0 0 120 1 5 1997-11-01 O00487 PSDE_HUMAN PSMD14 Ubiquitin C-terminal hydrolase PSMD14 310 34.6 2 3.4.19.12 0 0 119 1 5 2004-08-31 P14174 MIF_HUMAN MIF Macrophage migration inhibitory factor 115 12.5 22 5.3.2.1 Secreted; Cytoplasm 0 1 Rheumatoid arthritis systemic juvenile 118 1 5 1990-01-01 P68106 FKB1B_HUMAN FKBP1B Peptidyl-prolyl cis-trans isomerase FKBP1B 108 11.8 2 5.2.1.8 Cytoplasm; Sarcoplasmic reticulum 0 0 118 1 5 2004-10-25 Q07817 B2CL1_HUMAN BCL2L1 Bcl-2-like protein 1 233 26 20 Mitochondrion inner membrane; Mitochondrion outer membrane; Mitochondrion matrix; Cytoplasmic vesicle; Cytoplasm; Nucleus membrane 1 0 118 1 5 1995-02-01 P27487 DPP4_HUMAN DPP4 Dipeptidyl peptidase 4 766 88.3 2 3.4.14.5 Cell membrane; Apical cell membrane; Cell projection; Cell junction; Membrane raft 1 0 117 1 5 1992-08-01 P51665 PSMD7_HUMAN PSMD7 26S proteasome non-ATPase regulatory subunit 7 324 37 16 0 0 115 1 5 1996-10-01 Q86WV6 STING_HUMAN STING1 Stimulator of interferon genes protein 379 42.2 5 Endoplasmic reticulum-Golgi intermediate compartment membrane; Endoplasmic reticulum membrane; Cytoplasm; Golgi apparatus membrane; Golgi apparatus; Cytoplasmic vesicle; Endosome membrane; Lysosome membrane; Mitochondrion outer membrane; Cell membrane 4 1 STING-associated vasculopathy, infantile-onset 115 1 5 2007-01-09 Q06124 PTN11_HUMAN PTPN11 Tyrosine-protein phosphatase non-receptor type 11 593 68 12 3.1.3.48 Cytoplasm; Nucleus 0 4 LEOPARD syndrome 1; Noonan syndrome 1; Leukemia, juvenile myelomonocytic; Metachondromatosis 115 1 5 1994-02-01 P03951 FA11_HUMAN F11 Coagulation factor XI 625 70.1 4 3.4.21.27 Secreted 0 1 Factor XI deficiency 114 1 5 1986-10-23 Q9UNM6 PSD13_HUMAN PSMD13 26S proteasome non-ATPase regulatory subunit 13 376 42.9 11 0 0 114 1 5 2002-05-15 O00231 PSD11_HUMAN PSMD11 26S proteasome non-ATPase regulatory subunit 11 422 47.5 17 Nucleus; Cytoplasm 0 0 114 1 5 2002-05-15 O00232 PSD12_HUMAN PSMD12 26S proteasome non-ATPase regulatory subunit 12 456 52.9 17 0 1 Stankiewicz-Isidor syndrome 114 1 5 2002-05-15 P61925 IPKA_HUMAN PKIA cAMP-dependent protein kinase inhibitor alpha 76 8 8 0 0 114 1 5 1987-08-13 O43242 PSMD3_HUMAN PSMD3 26S proteasome non-ATPase regulatory subunit 3 534 61 17 0 0 114 1 5 1998-12-15 P08709 FA7_HUMAN F7 Coagulation factor VII 466 51.6 13 3.4.21.21 Secreted 0 1 Factor VII deficiency 114 1 5 1988-01-01 P20248 CCNA2_HUMAN CCNA2 Cyclin-A2 432 48.6 4 Nucleus; Cytoplasm 0 0 114 1 5 1991-02-01 P48556 PSMD8_HUMAN PSMD8 26S proteasome non-ATPase regulatory subunit 8 350 39.6 19 0 0 113 1 5 1996-02-01 Q15008 PSMD6_HUMAN PSMD6 26S proteasome non-ATPase regulatory subunit 6 389 45.5 3 0 0 113 1 5 1997-11-01 P19793 RXRA_HUMAN RXRA Retinoic acid receptor RXR-alpha 462 50.8 9 Nucleus; Cytoplasm; Mitochondrion 0 0 110 1 5 1991-02-01 P62942 FKB1A_HUMAN FKBP1A Peptidyl-prolyl cis-trans isomerase FKBP1A 108 12 20 5.2.1.8 Cytoplasm; Sarcoplasmic reticulum membrane 0 0 108 1 5 2004-08-31 Q96MU7 YTDC1_HUMAN YTHDC1 YTH domain-containing protein 1 727 84.7 4 Nucleus; Nucleus speckle 0 0 108 1 5 2003-02-12 P01911 DRB1_HUMAN HLA-DRB1 HLA class II histocompatibility antigen, DRB1 beta chain 266 30 6 Cell membrane; Endoplasmic reticulum membrane; Lysosome membrane; Late endosome membrane; Autolysosome membrane 1 3 Sarcoidosis 1; Multiple sclerosis; Rheumatoid arthritis 108 1 5 1986-07-21 P06276 CHLE_HUMAN BCHE Cholinesterase 602 68.4 3 3.1.1.8 Secreted 0 1 Butyrylcholinesterase deficiency 108 1 5 1988-01-01 P0DOX5 IGG1_HUMAN Immunoglobulin gamma-1 heavy chain 449 49.3 Secreted; Cell membrane 0 0 107 1 5 2017-03-15 P48736 PK3CG_HUMAN PIK3CG Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform 1102 126.5 7 2.7.1.137, 2.7.1.153, 2.7.1.154 Cytoplasm; Cell membrane 0 1 Immunodeficiency 97 with autoinflammation 107 1 5 1996-02-01 Q8N884 CGAS_HUMAN CGAS Cyclic GMP-AMP synthase 522 58.8 6 2.7.7.86 Nucleus; Chromosome; Cell membrane; Cytoplasm 0 0 107 1 5 2005-07-05 P09874 PARP1_HUMAN PARP1 Poly [ADP-ribose] polymerase 1 1014 113.1 1 2.4.2.30 Chromosome; Nucleus; Cytoplasm 0 0 106 1 5 1989-07-01 P29474 NOS3_HUMAN NOS3 Nitric oxide synthase 3 1203 133.3 7 1.14.13.39 Cell membrane; Membrane; Cytoplasm; Golgi apparatus 0 1 Moyamoya disease 8 105 1 5 1993-04-01 Q02127 PYRD_HUMAN DHODH Dihydroorotate dehydrogenase (quinone), mitochondrial 395 42.9 16 1.3.5.2 Mitochondrion inner membrane 1 1 Postaxial acrofacial dysostosis 104 1 5 1993-07-01 P83731 RL24_HUMAN RPL24 Large ribosomal subunit protein eL24 157 17.8 3 Cytoplasm 0 0 103 1 5 2004-01-16 P29317 EPHA2_HUMAN EPHA2 Ephrin type-A receptor 2 976 108.3 1 2.7.10.1 Cell membrane; Cell projection; Cell junction 1 1 Cataract 6, multiple types 103 1 5 1992-12-01 P12004 PCNA_HUMAN PCNA DNA sliding clamp PCNA 261 28.8 20 Nucleus 0 1 Ataxia-telangiectasia-like disorder 2 102 1 5 1989-10-01 P84243 H33_HUMAN H3-3A Histone H3.3 136 15.3 1 Nucleus; Chromosome 0 3 Glioma; Bryant-Li-Bhoj neurodevelopmental syndrome 1; Bryant-Li-Bhoj neurodevelopmental syndrome 2 102 1 5 1988-01-01 Q9UKL0 RCOR1_HUMAN RCOR1 REST corepressor 1 485 53.3 14 Nucleus 0 0 102 1 5 2006-03-07 P50120 RET2_HUMAN RBP2 Retinol-binding protein 2 134 15.7 3 Cytoplasm 0 0 102 1 5 1996-10-01 P27986 P85A_HUMAN PIK3R1 Phosphatidylinositol 3-kinase regulatory subunit alpha 724 83.6 5 Cytoplasm 0 3 Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 with lymphoproliferation 102 1 5 1992-08-01 Q6P2Q9 PRP8_HUMAN PRPF8 Pre-mRNA-processing-splicing factor 8 2335 273.6 17 Nucleus; Nucleus speckle 0 1 Retinitis pigmentosa 13 100 1 5 2005-06-07 P62877 RBX1_HUMAN RBX1 E3 ubiquitin-protein ligase RBX1 108 12.3 22 2.3.2.27, 2.3.2.32 Cytoplasm; Nucleus 0 0 99 1 5 2004-08-16 P29274 AA2AR_HUMAN ADORA2A Adenosine receptor A2a 412 44.7 22 Cell membrane 7 0 99 1 5 1992-12-01 Q92835 SHIP1_HUMAN INPP5D Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 1189 133.3 2 3.1.3.86 Cytoplasm; Cell membrane; Membrane raft; Membrane 0 0 99 1 5 2007-09-11 P01834 IGKC_HUMAN IGKC Immunoglobulin kappa constant 107 11.8 Secreted; Cell membrane 0 1 Immunoglobulin kappa light chain deficiency 98 1 5 1986-07-21 P01850 TRBC1_HUMAN TRBC1 T cell receptor beta constant 1 176 19.8 Cell membrane 1 0 98 1 5 1986-07-21 P12821 ACE_HUMAN ACE Angiotensin-converting enzyme 1306 149.7 17 3.4.15.1 Cell membrane; Cytoplasm 1 4 Ischemic stroke; Renal tubular dysgenesis; Microvascular complications of diabetes 3; Intracerebral hemorrhage 97 1 5 1989-10-01 Q14204 DYHC1_HUMAN DYNC1H1 Cytoplasmic dynein 1 heavy chain 1 4646 532.4 14 Cytoplasm 0 3 Charcot-Marie-Tooth disease, axonal, type 2O; Cortical dysplasia, complex, with other brain malformations 13; Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant 97 1 5 1997-11-01 Q9UGP5 DPOLL_HUMAN POLL DNA polymerase lambda 575 63.5 10 2.7.7.7, 4.2.99.- Nucleus; Chromosome 0 0 96 1 5 2001-11-16 P05230 FGF1_HUMAN FGF1 Fibroblast growth factor 1 155 17.5 5 Secreted; Cytoplasm; Nucleus 0 0 96 1 5 1987-08-13 Q9NWZ3 IRAK4_HUMAN IRAK4 Interleukin-1 receptor-associated kinase 4 460 51.5 12 2.7.11.1 Cytoplasm 0 1 Immunodeficiency 67 96 1 5 2004-07-19 P10275 ANDR_HUMAN AR Androgen receptor 920 99.2 X Nucleus; Cytoplasm 0 5 Androgen insensitivity syndrome; Spinal and bulbar muscular atrophy X-linked 1; Prostate cancer, hereditary, X-linked 3; Androgen insensitivity, partial; Hypospadias 1, X-linked 95 1 5 1989-07-01 P28472 GBRB3_HUMAN GABRB3 Gamma-aminobutyric acid receptor subunit beta-3 473 54.1 15 Postsynaptic cell membrane; Cell membrane; Cytoplasmic vesicle membrane 4 2 Epilepsy, childhood absence 5; Developmental and epileptic encephalopathy 43 95 1 5 1992-12-01 Q02750 MP2K1_HUMAN MAP2K1 Dual specificity mitogen-activated protein kinase kinase 1 393 43.4 15 2.7.12.2 Cytoplasm; Nucleus; Membrane 0 2 Cardiofaciocutaneous syndrome 3; Melorheostosis, isolated 94 1 5 1993-07-01 P09012 SNRPA_HUMAN SNRPA U1 small nuclear ribonucleoprotein A 282 31.3 19 Nucleus 0 0 94 1 5 1988-11-01 P43405 KSYK_HUMAN SYK Tyrosine-protein kinase SYK 635 72.1 9 2.7.10.2 Cell membrane; Cytoplasm 0 1 Immunodeficiency 82 with systemic inflammation 93 1 5 1995-11-01 Q96L21 RL10L_HUMAN RPL10L Ribosomal protein uL16-like 214 24.5 14 Cytoplasm 0 1 Spermatogenic failure 63 93 1 5 2005-01-04 P30050 RL12_HUMAN RPL12 Large ribosomal subunit protein uL11 165 17.8 9 Cytoplasm 0 0 93 1 5 1993-04-01 P14324 FPPS_HUMAN FDPS Farnesyl pyrophosphate synthase 419 48.3 1 2.5.1.10 Cytoplasm 0 1 Porokeratosis 9, multiple types 92 1 5 1990-01-01 Q07889 SOS1_HUMAN SOS1 Son of sevenless homolog 1 1333 152.5 2 0 2 Fibromatosis, gingival, 1; Noonan syndrome 4 91 1 5 1999-07-15 Q13627 DYR1A_HUMAN DYRK1A Dual specificity tyrosine-phosphorylation-regulated kinase 1A 763 85.6 21 2.7.11.23, 2.7.12.1 Nucleus; Nucleus speckle 0 1 Intellectual developmental disorder, autosomal dominant 7 91 1 5 1997-11-01 P00797 RENI_HUMAN REN Renin 406 45.1 1 3.4.23.15 Secreted; Membrane 0 2 Renal tubular dysgenesis; Tubulointerstitial kidney disease, autosomal dominant 4 91 1 5 1986-07-21 Q96SW2 CRBN_HUMAN CRBN Protein cereblon 442 50.5 3 Cytoplasm; Nucleus; Membrane 0 1 Intellectual developmental disorder, autosomal recessive 2 90 1 5 2005-08-30 P00374 DYR_HUMAN DHFR Dihydrofolate reductase 187 21.5 5 1.5.1.3 Mitochondrion; Cytoplasm; Nucleus 0 1 Megaloblastic anemia due to dihydrofolate reductase deficiency 89 1 5 1986-07-21 Q96RI1 NR1H4_HUMAN NR1H4 Bile acid receptor 486 55.9 12 Nucleus 0 1 Cholestasis, progressive familial intrahepatic, 5 89 1 5 2002-05-27 O75164 KDM4A_HUMAN KDM4A Lysine-specific demethylase 4A 1064 120.7 1 1.14.11.66, 1.14.11.69 Nucleus 0 0 89 1 5 2003-08-22 P49366 DHYS_HUMAN DHPS Deoxyhypusine synthase 369 41 19 2.5.1.46 0 1 Neurodevelopmental disorder with seizures and speech and walking impairment 89 1 5 1996-02-01 Q04206 TF65_HUMAN RELA Transcription factor p65 551 60.2 11 Nucleus; Cytoplasm 0 1 Autoinflammatory disease, familial, Behcet-like 3 88 1 5 1993-10-01 Q99497 PARK7_HUMAN PARK7 Parkinson disease protein 7 189 19.9 1 Cell membrane; Cytoplasm; Nucleus; Membrane raft; Mitochondrion; Endoplasmic reticulum 0 1 Parkinson disease 7 88 1 5 2004-12-07 Q04609 FOLH1_HUMAN FOLH1 Glutamate carboxypeptidase 2 750 84.3 11 3.4.17.21 Cell membrane 1 0 88 1 5 1994-06-01 O14744 ANM5_HUMAN PRMT5 Protein arginine N-methyltransferase 5 637 72.7 14 2.1.1.320 Cytoplasm; Nucleus; Chromosome; Golgi apparatus 0 0 87 1 5 2003-06-20 P06213 INSR_HUMAN INSR Insulin receptor 1382 156.3 19 2.7.10.1 Cell membrane; Late endosome; Lysosome 1 5 Rabson-Mendenhall syndrome; Leprechaunism; Type 2 diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 5; Insulin-resistant diabetes mellitus with acanthosis nigricans type A 87 1 5 1988-01-01 Q7Z4V5 HDGR2_HUMAN HDGFL2 Hepatoma-derived growth factor-related protein 2 671 74.3 19 Nucleus; Cytoplasm 0 0 87 1 5 2008-02-05 P14867 GBRA1_HUMAN GABRA1 Gamma-aminobutyric acid receptor subunit alpha-1 456 51.8 5 Postsynaptic cell membrane; Cell membrane; Cytoplasmic vesicle membrane 4 4 Epilepsy, childhood absence 4; Epilepsy, idiopathic generalized 13; Juvenile myoclonic epilepsy 5; Developmental and epileptic encephalopathy 19 86 1 5 1990-04-01 P39900 MMP12_HUMAN MMP12 Macrophage metalloelastase 470 54 11 3.4.24.65 Secreted 0 0 86 1 5 1995-02-01 P00519 ABL1_HUMAN ABL1 Tyrosine-protein kinase ABL1 1130 122.9 9 2.7.10.2 Cytoplasm; Nucleus; Mitochondrion 0 2 Leukemia, chronic myeloid; Congenital heart defects and skeletal malformations syndrome 85 1 5 1986-07-21 P29373 RABP2_HUMAN CRABP2 Cellular retinoic acid-binding protein 2 138 15.7 1 Cytoplasm; Endoplasmic reticulum; Nucleus 0 0 85 1 5 1992-12-01 Q9BQA1 MEP50_HUMAN WDR77 Methylosome protein WDR77 342 36.7 1 Nucleus; Cytoplasm 0 0 85 1 5 2003-06-20 P53350 PLK1_HUMAN PLK1 Serine/threonine-protein kinase PLK1 603 68.3 16 2.7.11.21 Nucleus; Chromosome; Cytoplasm; Midbody 0 0 85 1 5 1996-10-01 Q04771 ACVR1_HUMAN ACVR1 Activin receptor type-1 509 57.2 2 2.7.11.30 Membrane 1 1 Fibrodysplasia ossificans progressiva 85 1 5 1994-02-01 P14902 I23O1_HUMAN IDO1 Indoleamine 2,3-dioxygenase 1 403 45.3 8 1.13.11.52 Cytoplasm 0 0 85 1 5 1990-04-01 Q05586 NMDZ1_HUMAN GRIN1 Glutamate receptor ionotropic, NMDA 1 938 105.4 9 Cell membrane; Postsynaptic cell membrane; Postsynaptic density membrane; Synaptic cell membrane 3 3 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive; Developmental and epileptic encephalopathy 101 84 1 5 1994-06-01 Q15648 MED1_HUMAN MED1 Mediator of RNA polymerase II transcription subunit 1 1581 168.5 17 Nucleus 0 0 84 1 5 1997-11-01 P01730 CD4_HUMAN CD4 T-cell surface glycoprotein CD4 458 51.1 12 Cell membrane 1 1 Immunodeficiency 79 84 1 5 1986-07-21 P43490 NAMPT_HUMAN NAMPT Nicotinamide phosphoribosyltransferase 491 55.5 7 2.4.2.12 Nucleus; Cytoplasm; Secreted 0 0 84 1 5 1995-11-01 P60709 ACTB_HUMAN ACTB Actin, cytoplasmic 1 375 41.7 7 3.6.4.- Cytoplasm; Nucleus 0 5 Dystonia-deafness syndrome 1; Baraitser-Winter syndrome 1; Thrombocytopenia 8, with dysmorphic features and developmental delay; Becker nevus syndrome; Congenital smooth muscle hamartoma, with or without hemihypertrophy 84 1 5 1986-07-21 O60814 H2B1K_HUMAN H2BC12 Histone H2B type 1-K 126 13.9 6 Nucleus; Chromosome 0 0 83 1 5 2004-08-31 P62304 RUXE_HUMAN SNRPE Small nuclear ribonucleoprotein E 92 10.8 1 Cytoplasm; Nucleus 0 1 Hypotrichosis 11 83 1 5 1988-08-01 P11362 FGFR1_HUMAN FGFR1 Fibroblast growth factor receptor 1 822 91.9 8 2.7.10.1 Cell membrane; Nucleus; Cytoplasm; Cytoplasmic vesicle 1 7 Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Osteoglophonic dysplasia; Hartsfield syndrome; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis; Jackson-Weiss syndrome 83 1 5 1989-07-01 P62306 RUXF_HUMAN SNRPF Small nuclear ribonucleoprotein F 86 9.7 12 Cytoplasm; Nucleus 0 0 83 1 5 2004-07-05 P09471 GNAO_HUMAN GNAO1 Guanine nucleotide-binding protein G(o) subunit alpha 354 40.1 16 3.6.5.- Cell membrane 0 2 Developmental and epileptic encephalopathy 17; Neurodevelopmental disorder with involuntary movements 83 1 5 1989-07-01 P62308 RUXG_HUMAN SNRPG Small nuclear ribonucleoprotein G 76 8.5 2 Cytoplasm; Nucleus 0 0 83 1 5 2004-07-05 P62314 SMD1_HUMAN SNRPD1 Small nuclear ribonucleoprotein Sm D1 119 13.3 18 Cytoplasm; Nucleus 0 0 82 1 5 2004-07-05 Q93009 UBP7_HUMAN USP7 Ubiquitin C-terminal hydrolase 7 1102 128.3 16 3.4.19.12 Nucleus; Cytoplasm; Chromosome 0 1 Hao-Fountain syndrome 82 1 5 1997-11-01 O75469 NR1I2_HUMAN NR1I2 Nuclear receptor subfamily 1 group I member 2 434 49.8 3 Nucleus; Cytoplasm 0 0 80 1 5 1999-07-15 P62316 SMD2_HUMAN SNRPD2 Small nuclear ribonucleoprotein Sm D2 118 13.5 19 Cytoplasm; Nucleus 0 0 80 1 5 2004-07-05 P22303 ACES_HUMAN ACHE Acetylcholinesterase 614 67.8 7 3.1.1.7 Synapse; Secreted; Cell membrane 0 0 79 1 5 1991-08-01 P12931 SRC_HUMAN SRC Proto-oncogene tyrosine-protein kinase Src 536 59.8 20 2.7.10.2 Cell membrane; Mitochondrion inner membrane; Nucleus; Cytoplasm; Cell junction 0 1 Thrombocytopenia 6 79 1 5 1989-10-01 P53355 DAPK1_HUMAN DAPK1 Death-associated protein kinase 1 1430 160 9 2.7.11.1 Cytoplasm 0 0 79 1 5 1996-10-01 Q95460 HMR1_HUMAN MR1 Major histocompatibility complex class I-related protein 1 341 39.4 1 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Early endosome membrane; Late endosome membrane 1 0 79 1 5 2008-07-22 O75643 U520_HUMAN SNRNP200 U5 small nuclear ribonucleoprotein 200 kDa helicase 2136 244.5 2 3.6.4.13 Nucleus 0 1 Retinitis pigmentosa 33 79 1 5 2000-12-01 Q9UM73 ALK_HUMAN ALK ALK tyrosine kinase receptor 1620 176.4 2 2.7.10.1 Cell membrane 1 1 Neuroblastoma 3 79 1 5 2002-03-27 P33981 TTK_HUMAN TTK Dual specificity protein kinase TTK 857 97.1 6 2.7.12.1 0 0 78 1 5 1994-02-01 P08514 ITA2B_HUMAN ITGA2B Integrin alpha-IIb 1039 113.4 17 Cell membrane 1 3 Fetomaternal alloimmune thrombocytopenia 2; Glanzmann thrombasthenia 1; Bleeding disorder, platelet-type, 16 78 1 5 1988-08-01 O75530 EED_HUMAN EED Polycomb protein EED 441 50.2 11 Nucleus; Chromosome 0 1 Cohen-Gibson syndrome 78 1 5 2008-07-22 P62318 SMD3_HUMAN SNRPD3 Small nuclear ribonucleoprotein Sm D3 126 13.9 22 Cytoplasm; Nucleus 0 0 78 1 5 2004-07-05 P63104 1433Z_HUMAN YWHAZ 14-3-3 protein zeta/delta 245 27.7 8 Cytoplasm; Melanosome 0 1 Popov-Chang syndrome 77 1 5 2004-09-13 P20226 TBP_HUMAN TBP TATA-box-binding protein 339 37.7 6 Nucleus 0 1 Spinocerebellar ataxia 17 77 1 5 1991-02-01 Q07869 PPARA_HUMAN PPARA Peroxisome proliferator-activated receptor alpha 468 52.2 22 Nucleus 0 0 77 1 5 1994-10-01 Q8IXJ6 SIR2_HUMAN SIRT2 NAD-dependent protein deacetylase sirtuin-2 389 43.2 19 2.3.1.286 Nucleus; Cytoplasm; Midbody; Chromosome; Perikaryon; Cell projection; Myelin membrane 0 0 77 1 5 2003-10-31 P09960 LKHA4_HUMAN LTA4H Leukotriene A-4 hydrolase 611 69.3 12 3.3.2.6 Cytoplasm 0 0 77 1 5 1989-07-01 P10997 IAPP_HUMAN IAPP Islet amyloid polypeptide 89 9.8 12 Secreted 0 0 76 1 5 1989-07-01 P63000 RAC1_HUMAN RAC1 Ras-related C3 botulinum toxin substrate 1 192 21.5 7 3.6.5.2 Cell membrane; Melanosome; Cytoplasm; Cell projection; Synapse; Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 48 76 1 5 2004-08-31 Q9Y3Z3 SAMH1_HUMAN SAMHD1 Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 626 72.2 20 3.1.5.- Nucleus; Chromosome 0 2 Aicardi-Goutieres syndrome 5; Chilblain lupus 2 76 1 5 2002-08-13 P18507 GBRG2_HUMAN GABRG2 Gamma-aminobutyric acid receptor subunit gamma-2 475 55.2 5 Postsynaptic cell membrane; Cell membrane; Cell projection; Cytoplasmic vesicle membrane 4 4 Developmental and epileptic encephalopathy 74; Epilepsy, childhood absence 2; Febrile seizures, familial, 8; Generalized epilepsy with febrile seizures plus 3 75 1 5 1990-11-01 P04049 RAF1_HUMAN RAF1 RAF proto-oncogene serine/threonine-protein kinase 648 73.1 3 2.7.11.1 Cytoplasm; Cell membrane; Mitochondrion; Nucleus 0 3 Noonan syndrome 5; LEOPARD syndrome 2; Cardiomyopathy, dilated, 1NN 75 1 5 1986-11-01 P01024 CO3_HUMAN C3 Complement C3 1663 187.1 19 Secreted 0 3 Complement component 3 deficiency; Macular degeneration, age-related, 9; Hemolytic uremic syndrome, atypical, 5 75 1 5 1986-07-21 P0DMV8 HS71A_HUMAN HSPA1A Heat shock 70 kDa protein 1A 641 70.1 6 Cytoplasm; Nucleus; Secreted 0 0 75 1 5 2015-05-27 P14678 RSMB_HUMAN SNRPB Small nuclear ribonucleoprotein-associated proteins B and B' 240 24.6 20 Cytoplasm; Nucleus 0 1 Cerebrocostomandibular syndrome 74 1 5 1990-04-01 P98170 XIAP_HUMAN XIAP E3 ubiquitin-protein ligase XIAP 497 56.7 X 2.3.2.27 Cytoplasm; Nucleus 0 1 Lymphoproliferative syndrome, X-linked, 2 74 1 5 1996-10-01 P62807 H2B1C_HUMAN H2BC4 Histone H2B type 1-C/E/F/G/I 126 13.9 6 Nucleus; Chromosome 0 0 74 1 5 1986-07-21 Q9NZQ7 PD1L1_HUMAN CD274 Programmed cell death 1 ligand 1 290 33.3 9 Cell membrane; Early endosome membrane; Recycling endosome membrane; Nucleus 1 1 Autoimmune disease, multisystem, infantile-onset, 5 74 1 5 2005-05-10 P09651 ROA1_HUMAN HNRNPA1 Heterogeneous nuclear ribonucleoprotein A1 372 38.7 12 Nucleus; Cytoplasm 0 3 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3; Amyotrophic lateral sclerosis 20; Myopathy, distal, 3 73 1 5 1989-07-01 Q86U44 MTA70_HUMAN METTL3 N(6)-adenosine-methyltransferase catalytic subunit METTL3 580 64.5 14 2.1.1.348 Nucleus; Nucleus speckle; Cytoplasm 0 0 73 1 5 2003-07-25 Q9NRX2 RM17_HUMAN MRPL17 Large ribosomal subunit protein bL17m 175 20.1 11 Mitochondrion 0 0 72 1 5 2006-05-30 P62333 PRS10_HUMAN PSMC6 26S proteasome regulatory subunit 10B 389 44.2 14 Cytoplasm; Nucleus 0 0 72 1 5 2004-07-05 P11172 UMPS_HUMAN UMPS Uridine 5'-monophosphate synthase 480 52.2 3 0 1 Orotic aciduria 1 72 1 5 1989-07-01 P30405 PPIF_HUMAN PPIF Peptidyl-prolyl cis-trans isomerase F, mitochondrial 207 22 10 5.2.1.8 Mitochondrion matrix 0 0 72 1 5 1993-04-01 P63208 SKP1_HUMAN SKP1 S-phase kinase-associated protein 1 163 18.7 5 0 0 72 1 5 2004-09-27 Q9P0M9 RM27_HUMAN MRPL27 Large ribosomal subunit protein bL27m 148 16.1 17 Mitochondrion 0 0 72 1 4 2002-03-05 Q9NX20 RM16_HUMAN MRPL16 Large ribosomal subunit protein uL16m 251 28.4 11 Mitochondrion 0 0 72 1 4 2006-06-13 Q9BYD3 RM04_HUMAN MRPL4 Large ribosomal subunit protein uL4m 311 34.9 19 Mitochondrion 0 0 72 1 4 2006-05-30 P49406 RM19_HUMAN MRPL19 Large ribosomal subunit protein bL19m 292 33.5 2 Mitochondrion 0 0 72 1 4 1996-02-01 Q9BYC8 RM32_HUMAN MRPL32 Large ribosomal subunit protein bL32m 188 21.4 7 Mitochondrion 0 0 71 1 5 2002-07-26 Q13084 RM28_HUMAN MRPL28 Large ribosomal subunit protein bL28m 256 30.2 16 Mitochondrion 0 0 71 1 5 1998-07-15 Q14197 ICT1_HUMAN MRPL58 Large ribosomal subunit protein mL62 206 23.6 17 Mitochondrion 0 0 71 1 5 1999-07-15 Q16540 RM23_HUMAN MRPL23 Large ribosomal subunit protein uL23m 153 17.8 11 Mitochondrion 0 0 71 1 5 2005-07-05 O75533 SF3B1_HUMAN SF3B1 Splicing factor 3B subunit 1 1304 145.8 2 Nucleus; Nucleus speckle 0 0 71 1 5 2001-08-14 Q96DV4 RM38_HUMAN MRPL38 Large ribosomal subunit protein mL38 380 44.6 17 Mitochondrion 0 0 71 1 5 2006-11-28 Q5T653 RM02_HUMAN MRPL2 Large ribosomal subunit protein uL2m 305 33.3 6 Mitochondrion 0 0 71 1 4 2006-11-28 Q7Z2W9 RM21_HUMAN MRPL21 Large ribosomal subunit protein bL21m 205 22.8 11 Mitochondrion 0 0 71 1 4 2006-10-17 Q8TCC3 RM30_HUMAN MRPL30 Large ribosomal subunit protein uL30m 161 18.5 2 Mitochondrion 0 0 71 1 4 2006-11-28 Q9HD33 RM47_HUMAN MRPL47 Large ribosomal subunit protein uL29m 250 29.5 3 Mitochondrion 0 0 71 1 4 2004-04-26 Q9BYD2 RM09_HUMAN MRPL9 Large ribosomal subunit protein bL9m 267 30.2 1 Mitochondrion 0 0 71 1 4 2001-12-13 Q9P015 RM15_HUMAN MRPL15 Large ribosomal subunit protein uL15m 296 33.4 8 Mitochondrion 0 0 71 1 4 2006-10-31 P09001 RM03_HUMAN MRPL3 Large ribosomal subunit protein uL3m 348 38.6 3 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 9 71 1 4 1988-11-01 Q6P1L8 RM14_HUMAN MRPL14 Large ribosomal subunit protein uL14m 145 15.9 6 Mitochondrion 0 0 71 1 4 2006-11-28 Q96A35 RM24_HUMAN MRPL24 Large ribosomal subunit protein uL24m 216 24.9 1 Mitochondrion 0 0 71 1 4 2007-01-09 Q9BYC9 RM20_HUMAN MRPL20 Large ribosomal subunit protein bL20m 149 17.4 1 Mitochondrion 0 0 71 1 4 2006-09-05 Q9BYD1 RM13_HUMAN MRPL13 Large ribosomal subunit protein uL13m 178 20.7 8 Mitochondrion 0 0 71 1 4 2002-08-13 O75394 RM33_HUMAN MRPL33 Large ribosomal subunit protein bL33m 65 7.6 2 Mitochondrion 0 0 71 1 4 2006-05-30 Q9BZE1 RM37_HUMAN MRPL37 Large ribosomal subunit protein mL37 423 48.1 1 Mitochondrion 0 0 71 1 4 2006-02-07 Q9BQ48 RM34_HUMAN MRPL34 Large ribosomal subunit protein bL34m 92 10.2 19 Mitochondrion 0 0 71 1 3 2002-01-31 Q8IXM3 RM41_HUMAN MRPL41 Large ribosomal subunit protein mL41 137 15.4 9 Mitochondrion 0 0 70 1 5 2007-01-23 Q9NZE8 RM35_HUMAN MRPL35 Large ribosomal subunit protein bL35m 188 21.5 2 Mitochondrion 0 0 70 1 5 2004-02-02 O15530 PDPK1_HUMAN PDPK1 3-phosphoinositide-dependent protein kinase 1 556 63.2 16 2.7.11.1 Cytoplasm; Nucleus; Cell membrane; Cell junction 0 0 70 1 5 2001-10-18 P43235 CATK_HUMAN CTSK Cathepsin K 329 37 1 3.4.22.38 Lysosome; Secreted; Apical cell membrane 0 1 Pycnodysostosis 70 1 5 1995-11-01 Q8N983 RM43_HUMAN MRPL43 Large ribosomal subunit protein mL43 215 23.4 10 Mitochondrion 0 0 70 1 5 2004-07-19 Q9BRJ2 RM45_HUMAN MRPL45 Large ribosomal subunit protein mL45 306 35.4 Mitochondrion 0 0 70 1 5 2003-04-04 Q9H9J2 RM44_HUMAN MRPL44 Large ribosomal subunit protein mL44 332 37.5 2 Mitochondrion; Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 16 70 1 5 2004-08-16 P05413 FABPH_HUMAN FABP3 Fatty acid-binding protein, heart 133 14.9 1 Cytoplasm 0 0 70 1 5 1988-11-01 P42345 MTOR_HUMAN MTOR Serine/threonine-protein kinase mTOR 2549 288.9 1 2.7.11.1 Lysosome membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell membrane; Mitochondrion outer membrane; Cytoplasm; Nucleus; Microsome membrane; Cytoplasmic vesicle 0 2 Smith-Kingsmore syndrome; Focal cortical dysplasia 2 70 1 5 1995-11-01 P43220 GLP1R_HUMAN GLP1R Glucagon-like peptide 1 receptor 463 53 6 Cell membrane 7 0 70 1 5 1995-11-01 Q13405 RM49_HUMAN MRPL49 Large ribosomal subunit protein mL49 166 19.2 11 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 60 70 1 5 1999-07-15 Q8TAE8 G45IP_HUMAN GADD45GIP1 Large ribosomal subunit protein mL64 222 25.4 19 Mitochondrion; Nucleus 0 0 70 1 5 2006-03-21 P04156 PRIO_HUMAN PRNP Major prion protein 253 27.7 20 Cell membrane; Golgi apparatus 0 6 Creutzfeldt-Jakob disease; Fatal familial insomnia; Gerstmann-Straussler disease; Huntington disease-like 1; Kuru; Spongiform encephalopathy with neuropsychiatric features 70 1 5 1986-11-01 Q9NYK5 RM39_HUMAN MRPL39 Large ribosomal subunit protein mL39 338 38.7 21 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 59 70 1 5 2001-01-11 Q4U2R6 RM51_HUMAN MRPL51 Large ribosomal subunit protein mL51 128 15.1 12 Mitochondrion 0 0 70 1 4 2007-01-23 Q9BQC6 RT63_HUMAN MRPL57 Large ribosomal subunit protein mL63 102 12.3 13 Mitochondrion 0 0 70 1 4 2006-10-17 Q9NVS2 RT18A_HUMAN MRPS18A Large ribosomal subunit protein mL66 196 22.2 6 Mitochondrion 0 0 70 1 4 2002-10-19 Q9NP92 RT30_HUMAN MRPS30 Large ribosomal subunit protein mL65 439 50.4 5 Mitochondrion 0 0 70 1 4 2002-10-19 Q9Y6G3 RM42_HUMAN MRPL42 Large ribosomal subunit protein mL42 142 16.7 12 Mitochondrion 0 0 70 1 4 2002-10-19 Q8N5N7 RM50_HUMAN MRPL50 Large ribosomal subunit protein mL50 158 18.3 9 Mitochondrion 0 0 70 1 3 2006-11-28 Q7Z7H8 RM10_HUMAN MRPL10 Large ribosomal subunit protein uL10m 261 29.3 17 Mitochondrion 0 0 69 1 5 2007-01-23 Q9HCE5 MET14_HUMAN METTL14 N(6)-adenosine-methyltransferase non-catalytic subunit METTL14 456 52.2 4 Nucleus 0 0 69 1 5 2008-03-18 Q9Y3B7 RM11_HUMAN MRPL11 Large ribosomal subunit protein uL11m 192 20.7 11 Mitochondrion 0 0 69 1 5 2002-07-26 P62906 RL10A_HUMAN RPL10A Large ribosomal subunit protein uL1 217 24.8 6 Cytoplasm 0 0 69 1 5 2004-08-31 O00255 MEN1_HUMAN MEN1 Menin 610 67.5 11 Nucleus 0 1 Familial multiple endocrine neoplasia type I 69 1 5 1998-12-15 Q96EL3 RM53_HUMAN MRPL53 Large ribosomal subunit protein mL53 112 12.1 2 Mitochondrion 0 0 68 1 5 2006-11-28 P16083 NQO2_HUMAN NQO2 Ribosyldihydronicotinamide dehydrogenase [quinone] 231 25.9 6 1.10.5.1 Cytoplasm 0 0 68 1 5 1990-04-01 P48643 TCPE_HUMAN CCT5 T-complex protein 1 subunit epsilon 541 59.7 5 3.6.1.- Cytoplasm 0 1 Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive 68 1 5 1996-02-01 P09211 GSTP1_HUMAN GSTP1 Glutathione S-transferase P 210 23.4 11 2.5.1.18 Cytoplasm; Mitochondrion; Nucleus 0 0 68 1 5 1989-07-01 Q96GC5 RM48_HUMAN MRPL48 Large ribosomal subunit protein mL48 212 23.9 11 Mitochondrion 0 0 68 1 4 2006-11-28 P42330 AK1C3_HUMAN AKR1C3 Aldo-keto reductase family 1 member C3 323 36.9 10 1.1.1.-, 1.1.1.210, 1.1.1.53, 1.1.1.62 Cytoplasm 0 0 67 1 5 1995-11-01 P51948 MAT1_HUMAN MNAT1 CDK-activating kinase assembly factor MAT1 309 35.8 14 Nucleus 0 0 67 1 5 1996-10-01 Q9NQ50 RM40_HUMAN MRPL40 Large ribosomal subunit protein mL40 206 24.5 22 Mitochondrion 0 0 67 1 5 2002-05-27 Q9H2W6 RM46_HUMAN MRPL46 Large ribosomal subunit protein mL46 279 31.7 15 Mitochondrion 0 0 67 1 4 2004-09-27 Q7Z7F7 RM55_HUMAN MRPL55 Large ribosomal subunit protein mL55 128 15.1 1 Mitochondrion 0 0 67 1 4 2007-01-23 P27695 APEX1_HUMAN APEX1 DNA repair nuclease/redox regulator APEX1 318 35.6 14 3.1.11.2, 3.1.21.- Nucleus; Nucleus speckle; Endoplasmic reticulum; Cytoplasm 0 0 66 1 5 1992-08-01 Q9UIF9 BAZ2A_HUMAN BAZ2A Bromodomain adjacent to zinc finger domain protein 2A 1905 211.2 12 Nucleus 0 0 66 1 5 2002-08-30 Q9UKK9 NUDT5_HUMAN NUDT5 ADP-sugar pyrophosphatase 219 24.3 10 3.6.1.13 Nucleus 0 0 66 1 5 2002-05-02 P63165 SUMO1_HUMAN SUMO1 Small ubiquitin-related modifier 1 101 11.6 2 Nucleus membrane; Nucleus speckle; Cytoplasm; Nucleus; Cell membrane 0 1 Non-syndromic orofacial cleft 10 66 1 5 2004-09-27 P55201 BRPF1_HUMAN BRPF1 Peregrin 1214 137.5 3 Nucleus; Chromosome; Cytoplasm 0 1 Intellectual developmental disorder with dysmorphic facies and ptosis 66 1 5 1996-10-01 Q15029 U5S1_HUMAN EFTUD2 116 kDa U5 small nuclear ribonucleoprotein component 972 109.4 17 Nucleus 0 1 Mandibulofacial dysostosis with microcephaly 66 1 5 2001-09-26 O00560 SDCB1_HUMAN SDCBP Syntenin-1 298 32.4 8 Cell junction; Cell membrane; Endoplasmic reticulum membrane; Nucleus; Melanosome; Cytoplasm; Secreted; Membrane raft 0 0 65 1 5 2002-05-02 P04629 NTRK1_HUMAN NTRK1 High affinity nerve growth factor receptor 796 87.5 1 2.7.10.1 Cell membrane; Early endosome membrane; Late endosome membrane; Recycling endosome membrane 1 1 Congenital insensitivity to pain with anhidrosis 65 1 5 1987-08-13 P49368 TCPG_HUMAN CCT3 T-complex protein 1 subunit gamma 545 60.5 1 3.6.1.- Cytoplasm 0 1 Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination 65 1 5 1996-02-01 P53779 MK10_HUMAN MAPK10 Mitogen-activated protein kinase 10 464 52.6 4 2.7.11.24 Cytoplasm; Membrane; Nucleus; Mitochondrion 0 0 65 1 5 1996-10-01 P02751 FINC_HUMAN FN1 Fibronectin 2477 272.3 2 Secreted 0 2 Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia, corner fracture type 65 1 5 1986-07-21 P50991 TCPD_HUMAN CCT4 T-complex protein 1 subunit delta 539 57.9 2 3.6.1.- Cytoplasm; Melanosome 0 0 65 1 5 1996-10-01 P17987 TCPA_HUMAN TCP1 T-complex protein 1 subunit alpha 556 60.3 6 3.6.1.- Cytoplasm 0 1 Intellectual developmental disorder with polymicrogyria and seizures 64 1 5 1990-11-01 P21675 TAF1_HUMAN TAF1 Transcription initiation factor TFIID subunit 1 1893 214.7 X 2.3.1.48, 2.7.11.1 Nucleus 0 2 Dystonia 3, torsion, X-linked; Intellectual developmental disorder, X-linked, syndromic 33 64 1 5 1991-05-01 Q15393 SF3B3_HUMAN SF3B3 Splicing factor 3B subunit 3 1217 135.6 16 Nucleus 0 0 64 1 5 1998-07-15 Q9NWT6 HIF1N_HUMAN HIF1AN Hypoxia-inducible factor 1-alpha inhibitor 349 40.3 10 1.14.11.30, 1.14.11.n4 Nucleus; Cytoplasm 0 0 64 1 5 2003-06-16 P01584 IL1B_HUMAN IL1B Interleukin-1 beta 269 30.7 2 Cytoplasm; Secreted; Lysosome 0 0 64 1 5 1986-07-21 P50990 TCPQ_HUMAN CCT8 T-complex protein 1 subunit theta 548 59.6 21 3.6.1.- Cytoplasm 0 0 64 1 5 1996-10-01 P07711 CATL1_HUMAN CTSL Procathepsin L 333 37.6 9 3.4.22.15 Lysosome; Apical cell membrane; Cytoplasmic vesicle; Secreted 0 0 64 1 5 1988-04-01 P40227 TCPZ_HUMAN CCT6A T-complex protein 1 subunit zeta 531 58 7 3.6.1.- Cytoplasm 0 0 64 1 5 1995-02-01 P78371 TCPB_HUMAN CCT2 T-complex protein 1 subunit beta 535 57.5 12 3.6.1.- Cytoplasm 0 0 64 1 5 1998-07-15 Q8WZ42 TITIN_HUMAN TTN Titin 34350 3816 2 2.7.11.1 Cytoplasm; Nucleus 0 6 Myopathy, myofibrillar, 9, with early respiratory failure; Cardiomyopathy, familial hypertrophic, 9; Cardiomyopathy, dilated, 1G; Tardive tibial muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 10; Congenital myopathy 5 with cardiomyopathy 64 1 5 2006-06-13 Q9GZT9 EGLN1_HUMAN EGLN1 Egl nine homolog 1 426 46 1 1.14.11.29 Cytoplasm; Nucleus 0 1 Erythrocytosis, familial, 3 64 1 5 2003-06-16 Q99832 TCPH_HUMAN CCT7 T-complex protein 1 subunit eta 543 59.4 2 3.6.1.- Cytoplasm 0 0 64 1 5 1997-11-01 P04626 ERBB2_HUMAN ERBB2 Receptor tyrosine-protein kinase erbB-2 1255 137.9 17 2.7.10.1 Cell membrane; Cell projection 1 5 Glioma; Ovarian cancer; Lung cancer; Gastric cancer; Visceral neuropathy, familial, 2, autosomal recessive 63 1 5 1987-08-13 P0C0S8 H2A1_HUMAN H2AC11 Histone H2A type 1 130 14.1 6 Nucleus; Chromosome 0 0 63 1 5 1986-07-21 P21802 FGFR2_HUMAN FGFR2 Fibroblast growth factor receptor 2 821 92 10 2.7.10.1 Cell membrane; Golgi apparatus; Cytoplasmic vesicle 1 10 Crouzon syndrome; Jackson-Weiss syndrome; Apert syndrome; Pfeiffer syndrome; Beare-Stevenson cutis gyrata syndrome; Familial scaphocephaly syndrome; Lacrimo-auriculo-dento-digital syndrome 1; Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis; Bent bone dysplasia syndrome 1; Saethre-Chotzen syndrome 63 1 5 1991-05-01 Q9BWJ5 SF3B5_HUMAN SF3B5 Splicing factor 3B subunit 5 86 10.1 6 Nucleus 0 0 63 1 5 2002-02-11 A0A5B9 TRBC2_HUMAN TRBC2 T cell receptor beta constant 2 178 20 Cell membrane 1 0 63 1 4 2010-04-20 Q6P161 RM54_HUMAN MRPL54 Large ribosomal subunit protein mL54 138 15.8 19 Mitochondrion 0 0 63 1 3 2007-02-20 P14735 IDE_HUMAN IDE Insulin-degrading enzyme 1019 118 10 3.4.24.56 Cytoplasm; Cell membrane; Secreted 0 0 62 1 5 1990-04-01 P52732 KIF11_HUMAN KIF11 Kinesin-like protein KIF11 1056 119.2 10 Cytoplasm 0 1 Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development 62 1 5 1996-10-01 P82932 RT06_HUMAN MRPS6 Small ribosomal subunit protein bS6m 125 14.2 21 Mitochondrion 0 0 62 1 5 2001-05-04 P05388 RLA0_HUMAN RPLP0 Large ribosomal subunit protein uL10 317 34.3 12 Nucleus; Cytoplasm 0 0 62 1 5 1988-11-01 P13010 XRCC5_HUMAN XRCC5 DNA repair protein Ku80 732 82.7 2 4.2.99.18, 5.6.2.4 Nucleus; Chromosome 0 0 62 1 5 1990-01-01 Q9Y399 RT02_HUMAN MRPS2 Small ribosomal subunit protein uS2m 296 33.2 9 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 36 62 1 5 2002-10-19 O60783 RT14_HUMAN MRPS14 Small ribosomal subunit protein uS14m 128 15.1 1 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 38 62 1 5 2004-01-16 P25774 CATS_HUMAN CTSS Cathepsin S 331 37.5 1 3.4.22.27 Lysosome; Secreted; Cytoplasmic vesicle 0 0 62 1 5 1992-05-01 P51398 RT29_HUMAN DAP3 Small ribosomal subunit protein mS29 398 45.6 1 3.6.5.- Mitochondrion 0 1 Perrault syndrome 7 62 1 5 1996-10-01 Q8NBP7 PCSK9_HUMAN PCSK9 Proprotein convertase subtilisin/kexin type 9 692 74.3 1 3.4.21.- Cytoplasm; Secreted; Endosome; Lysosome; Cell surface; Endoplasmic reticulum; Golgi apparatus 0 1 Hypercholesterolemia, familial, 3 62 1 5 2003-11-07 P82650 RT22_HUMAN MRPS22 Small ribosomal subunit protein mS22 360 41.3 3 Mitochondrion 0 2 Combined oxidative phosphorylation deficiency 5; Ovarian dysgenesis 7 62 1 5 2001-04-27 Q7RTV0 PHF5A_HUMAN PHF5A PHD finger-like domain-containing protein 5A 110 12.4 22 Nucleus; Nucleus speckle 0 0 62 1 5 2004-04-26 Q92552 RT27_HUMAN MRPS27 Small ribosomal subunit protein mS27 414 47.6 5 Cytoplasm; Mitochondrion 0 0 62 1 5 2002-03-27 Q96EY7 PTCD3_HUMAN PTCD3 Small ribosomal subunit protein mS39 689 78.6 2 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 51 62 1 5 2007-10-02 O15235 RT12_HUMAN MRPS12 Small ribosomal subunit protein uS12m 138 15.2 19 Mitochondrion 0 0 62 1 4 1998-07-15 P82673 RT35_HUMAN MRPS35 Small ribosomal subunit protein mS35 323 36.8 12 Mitochondrion 0 0 62 1 4 2006-02-07 Q9Y3D3 RT16_HUMAN MRPS16 Small ribosomal subunit protein bS16m 137 15.3 10 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 2 62 1 4 2001-04-27 Q9Y2Q9 RT28_HUMAN MRPS28 Small ribosomal subunit protein bS1m 187 20.8 8 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 47 62 1 4 2002-07-26 P82914 RT15_HUMAN MRPS15 Small ribosomal subunit protein uS15m 257 29.8 1 Mitochondrion matrix 0 0 62 1 4 2001-04-27 P82933 RT09_HUMAN MRPS9 Small ribosomal subunit protein uS9m 396 45.8 2 Mitochondrion 0 0 62 1 4 2002-01-23 Q9Y2R5 RT17_HUMAN MRPS17 Small ribosomal subunit protein uS17m 130 14.5 7 Mitochondrion 0 0 62 1 4 2001-04-27 P82663 RT25_HUMAN MRPS25 Small ribosomal subunit protein mS25 173 20.1 3 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 50 62 1 4 2001-04-27 P82675 RT05_HUMAN MRPS5 Small ribosomal subunit protein uS5m 430 48 2 Mitochondrion 0 0 62 1 4 2002-10-19 Q9Y2R9 RT07_HUMAN MRPS7 Small ribosomal subunit protein uS7m 242 28.1 17 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 34 62 1 4 2007-01-23 Q9BYN8 RT26_HUMAN MRPS26 Small ribosomal subunit protein mS26 205 24.2 20 Mitochondrion 0 0 62 1 3 2003-02-01 Q96EL2 RT24_HUMAN MRPS24 Small ribosomal subunit protein uS3m 167 19 7 Mitochondrion 0 0 62 1 3 2007-01-23 P82664 RT10_HUMAN MRPS10 Small ribosomal subunit protein uS10m 201 23 6 Mitochondrion 0 0 62 1 3 2001-12-13 Q9Y291 RT33_HUMAN MRPS33 Small ribosomal subunit protein mS33 106 12.6 7 Mitochondrion 0 0 62 1 3 2002-10-19 Q9Y676 RT18B_HUMAN MRPS18B Small ribosomal subunit protein mS40 258 29.4 6 Mitochondrion 0 0 61 1 5 2002-10-19 P82930 RT34_HUMAN MRPS34 Small ribosomal subunit protein mS34 218 25.7 16 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 32 61 1 5 2002-10-19 P06396 GELS_HUMAN GSN Gelsolin 782 85.7 9 Cytoplasm 0 1 Amyloidosis, hereditary systemic 4, Finnish type 61 1 5 1988-01-01 P14618 KPYM_HUMAN PKM Pyruvate kinase PKM 531 57.9 15 2.7.1.40 Cytoplasm; Nucleus 0 0 61 1 5 1990-04-01 P62837 UB2D2_HUMAN UBE2D2 Ubiquitin-conjugating enzyme E2 D2 147 16.7 5 2.3.2.23 0 0 61 1 5 2004-08-16 O75874 IDHC_HUMAN IDH1 Isocitrate dehydrogenase [NADP] cytoplasmic 414 46.7 2 1.1.1.42 Cytoplasm; Peroxisome 0 1 Glioma 61 1 5 2000-05-30 P04818 TYSY_HUMAN TYMS Thymidylate synthase 313 35.7 18 2.1.1.45 Nucleus; Cytoplasm; Mitochondrion; Mitochondrion matrix; Mitochondrion inner membrane 0 1 Dyskeratosis congenita, digenic 61 1 5 1987-08-13 P35269 T2FA_HUMAN GTF2F1 General transcription factor IIF subunit 1 517 58.2 19 Nucleus 0 0 61 1 5 1994-02-01 P63316 TNNC1_HUMAN TNNC1 Troponin C, slow skeletal and cardiac muscles 161 18.4 3 0 2 Cardiomyopathy, dilated, 1Z; Cardiomyopathy, familial hypertrophic, 13 61 1 5 1987-08-13 Q9Y3D5 RT18C_HUMAN MRPS18C Small ribosomal subunit protein bS18m 142 15.9 4 Mitochondrion 0 0 61 1 4 2002-10-19 Q9Y3D9 RT23_HUMAN MRPS23 Small ribosomal subunit protein mS23 190 21.8 17 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 46 61 1 4 2000-05-30 Q92665 RT31_HUMAN MRPS31 Small ribosomal subunit protein mS31 395 45.3 13 Mitochondrion 0 0 61 1 4 2002-10-19 P05089 ARGI1_HUMAN ARG1 Arginase-1 322 34.7 6 3.5.3.1 Cytoplasm; Cytoplasmic granule 0 1 Argininemia 60 1 5 1987-08-13 Q09472 EP300_HUMAN EP300 Histone acetyltransferase p300 2414 264.2 22 2.3.1.48 Cytoplasm; Nucleus; Chromosome 0 2 Rubinstein-Taybi syndrome 2; Menke-Hennekam syndrome 2 60 1 5 1998-07-15 P61218 RPAB2_HUMAN POLR2F DNA-directed RNA polymerases I, II, and III subunit RPABC2 127 14.5 22 Nucleus 0 0 60 1 5 2004-05-10 Q03164 KMT2A_HUMAN KMT2A Histone-lysine N-methyltransferase 2A 3969 431.8 11 2.1.1.364 Nucleus 0 1 Wiedemann-Steiner syndrome 60 1 5 1993-10-01 P02787 TRFE_HUMAN TF Serotransferrin 698 77.1 3 Secreted 0 1 Atransferrinemia 60 1 5 1986-07-21 Q92974 ARHG2_HUMAN ARHGEF2 Rho guanine nucleotide exchange factor 2 986 111.5 1 Cytoplasm; Cell junction; Golgi apparatus; Cell projection; Cytoplasmic vesicle 0 1 Neurodevelopmental disorder with midbrain and hindbrain malformations 60 1 5 2000-05-30 P82912 RT11_HUMAN MRPS11 Small ribosomal subunit protein uS11m 194 20.6 15 Mitochondrion 0 0 60 1 4 2002-05-27 P80188 NGAL_HUMAN LCN2 Neutrophil gelatinase-associated lipocalin 198 22.6 9 Secreted; Cytoplasmic granule lumen; Cytoplasmic vesicle lumen 0 0 59 1 5 1993-04-01 Q9NWT8 AKIP_HUMAN AURKAIP1 Small ribosomal subunit protein bS22, mitochondrial 199 22.4 1 Mitochondrion matrix; Nucleus 0 0 59 1 5 2003-05-16 Q9H0U6 RM18_HUMAN MRPL18 Large ribosomal subunit protein uL18m 180 20.6 6 Mitochondrion 0 0 59 1 5 2004-01-16 P49773 HINT1_HUMAN HINT1 Adenosine 5'-monophosphoramidase HINT1 126 13.8 5 3.9.1.- Cytoplasm; Nucleus 0 1 Neuromyotonia and axonal neuropathy, autosomal recessive 59 1 5 1996-10-01 P04062 GBA1_HUMAN GBA1 Lysosomal acid glucosylceramidase 536 59.7 1 3.2.1.45 Lysosome membrane 0 7 Gaucher disease; Gaucher disease 1; Gaucher disease 2; Gaucher disease 3; Gaucher disease 3C; Gaucher disease perinatal lethal; Parkinson disease 58 1 5 1986-11-01 P06756 ITAV_HUMAN ITGAV Integrin alpha-V 1048 116 2 Cell membrane; Cell junction 1 1 Immune dysregulation, neurodevelopmental defects, and colitis 58 1 5 1988-01-01 Q9NWU5 RM22_HUMAN MRPL22 Large ribosomal subunit protein uL22m 206 23.6 5 Mitochondrion 0 0 58 1 5 2006-11-28 P12956 XRCC6_HUMAN XRCC6 DNA repair protein Ku70 609 69.8 22 4.2.99.18, 5.6.2.4 Nucleus; Chromosome; Cytoplasm 0 0 58 1 5 1990-01-01 P13569 CFTR_HUMAN CFTR Cystic fibrosis transmembrane conductance regulator 1480 168.1 7 Apical cell membrane; Early endosome membrane; Cell membrane; Recycling endosome membrane; Endoplasmic reticulum membrane; Nucleus 12 2 Cystic fibrosis; Congenital bilateral absence of the vas deferens 58 1 5 1990-01-01 P54274 TERF1_HUMAN TERF1 Telomeric repeat-binding factor 1 439 50.2 8 Nucleus; Cytoplasm; Chromosome 0 0 58 1 5 1996-10-01 P13984 T2FB_HUMAN GTF2F2 General transcription factor IIF subunit 2 249 28.4 13 Nucleus 0 0 58 1 5 1990-01-01 P27707 DCK_HUMAN DCK Deoxycytidine kinase 260 30.5 4 2.7.1.74 Nucleus 0 0 58 1 5 1992-08-01 P04150 GCR_HUMAN NR3C1 Glucocorticoid receptor 777 85.7 5 Cytoplasm; Nucleus; Mitochondrion; Chromosome 0 1 Glucocorticoid resistance, generalized 58 1 5 1986-11-01 P30613 KPYR_HUMAN PKLR Pyruvate kinase PKLR 574 61.8 1 2.7.1.40 0 2 Pyruvate kinase hyperactivity; Anemia, congenital, non-spherocytic hemolytic, 2 58 1 5 1993-04-01 P52434 RPAB3_HUMAN POLR2H DNA-directed RNA polymerases I, II, and III subunit RPABC3 150 17.1 3 Nucleus 0 0 58 1 5 1996-10-01 Q86TS9 RM52_HUMAN MRPL52 Large ribosomal subunit protein mL52 123 13.7 14 Mitochondrion 0 0 58 1 5 2007-01-23 Q9Y251 HPSE_HUMAN HPSE Heparanase 543 61.1 4 3.2.1.166 Lysosome membrane; Secreted; Nucleus 0 0 58 1 5 2005-10-11 Q9P0J6 RM36_HUMAN MRPL36 Large ribosomal subunit protein bL36m 103 11.8 5 Mitochondrion 0 0 58 1 4 2002-10-19 P53803 RPAB4_HUMAN POLR2K DNA-directed RNA polymerases I, II, and III subunit RPABC4 58 7 8 Nucleus 0 0 57 1 5 1996-10-01 P62875 RPAB5_HUMAN POLR2L DNA-directed RNA polymerases I, II, and III subunit RPABC5 67 7.6 11 Nucleus 0 0 57 1 5 2004-08-16 P19388 RPAB1_HUMAN POLR2E DNA-directed RNA polymerases I, II, and III subunit RPABC1 210 24.6 19 Nucleus 0 0 57 1 5 1990-11-01 P31153 METK2_HUMAN MAT2A S-adenosylmethionine synthase isoform type-2 395 43.7 2 2.5.1.6 0 0 57 1 5 1993-07-01 P06239 LCK_HUMAN LCK Tyrosine-protein kinase Lck 509 58 1 2.7.10.2 Cell membrane; Cytoplasm 0 1 Immunodeficiency 22 57 1 5 1988-01-01 Q9UKV8 AGO2_HUMAN AGO2 Protein argonaute-2 859 97.2 8 3.1.26.n2 Cytoplasm; Nucleus 0 1 Lessel-Kreienkamp syndrome 57 1 5 2000-12-01 P27338 AOFB_HUMAN MAOB Amine oxidase [flavin-containing] B 520 58.8 X 1.4.3.21, 1.4.3.4 Mitochondrion outer membrane 1 0 56 1 5 1992-08-01 P00740 FA9_HUMAN F9 Coagulation factor IX 461 51.8 X 3.4.21.22 Secreted 0 3 Hemophilia B; Thrombophilia, X-linked, due to factor IX defect; Warfarin sensitivity, X-linked 56 1 5 1986-07-21 P24928 RPB1_HUMAN POLR2A DNA-directed RNA polymerase II subunit RPB1 1970 217.2 17 2.7.7.6 Nucleus; Cytoplasm; Chromosome 0 1 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 56 1 5 1992-03-01 P00915 CAH1_HUMAN CA1 Carbonic anhydrase 1 261 28.9 8 4.2.1.1 Cytoplasm 0 0 56 1 5 1986-07-21 P15692 VEGFA_HUMAN VEGFA Vascular endothelial growth factor A, long form 395 43.6 6 Cytoplasm; Nucleus 0 1 Microvascular complications of diabetes 1 56 1 5 1990-04-01 Q9UGL1 KDM5B_HUMAN KDM5B Lysine-specific demethylase 5B 1544 175.7 1 1.14.11.67 Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 65 56 1 5 2007-06-26 O15178 TBXT_HUMAN TBXT T-box transcription factor T 435 47.4 6 Nucleus 0 3 Neural tube defects; Chordoma; Sacral agenesis with vertebral anomalies 56 1 5 1999-07-15 P19784 CSK22_HUMAN CSNK2A2 Casein kinase II subunit alpha' 350 41.2 16 2.7.11.1 Nucleus; Cytoplasm 0 0 56 1 5 1991-02-01 Q03181 PPARD_HUMAN PPARD Peroxisome proliferator-activated receptor delta 441 49.9 6 Nucleus 0 0 56 1 5 1993-10-01 P82921 RT21_HUMAN MRPS21 Small ribosomal subunit protein bS21m 87 10.7 1 Mitochondrion 0 0 56 1 4 2001-05-04 P27708 PYR1_HUMAN CAD Multifunctional protein CAD 2225 243 2 Cytoplasm; Nucleus 0 1 Developmental and epileptic encephalopathy 50 55 1 5 1992-08-01 P28907 CD38_HUMAN CD38 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 300 34.3 4 3.2.2.-, 3.2.2.6 Cell surface; Cell membrane 1 0 55 1 5 1992-12-01 O00267 SPT5H_HUMAN SUPT5H Transcription elongation factor SPT5 1087 121 19 Nucleus 0 0 55 1 5 2005-11-22 P10415 BCL2_HUMAN BCL2 Apoptosis regulator Bcl-2 239 26.3 18 Mitochondrion outer membrane; Nucleus membrane; Endoplasmic reticulum membrane; Cytoplasm 1 0 55 1 5 1989-07-01 Q00403 TF2B_HUMAN GTF2B Transcription initiation factor IIB 316 34.8 1 2.3.1.48 Nucleus; Chromosome 0 0 55 1 5 1992-12-01 Q16611 BAK_HUMAN BAK1 Bcl-2 homologous antagonist/killer 211 23.4 6 Mitochondrion outer membrane 1 0 55 1 5 1997-11-01 Q9H8M2 BRD9_HUMAN BRD9 Bromodomain-containing protein 9 597 67 5 Nucleus 0 0 55 1 5 2006-05-30 P62993 GRB2_HUMAN GRB2 Growth factor receptor-bound protein 2 217 25.2 17 Nucleus; Cytoplasm; Endosome; Golgi apparatus 0 0 55 1 5 2004-08-31 P50613 CDK7_HUMAN CDK7 Cyclin-dependent kinase 7 346 39 5 2.7.11.22, 2.7.11.23 Nucleus; Cytoplasm 0 0 54 1 5 1996-10-01 P52657 T2AG_HUMAN GTF2A2 Transcription initiation factor IIA subunit 2 109 12.5 15 Nucleus 0 0 54 1 5 1996-10-01 P02730 B3AT_HUMAN SLC4A1 Band 3 anion transport protein 911 101.8 17 Cell membrane; Basolateral cell membrane 12 5 Ovalocytosis, Southeast Asian; Spherocytosis 4; Renal tubular acidosis, distal, 1; Renal tubular acidosis, distal, 4, with hemolytic anemia; Cryohydrocytosis 54 1 5 1986-07-21 P13726 TF_HUMAN F3 Tissue factor 295 33.1 1 Membrane 1 0 54 1 5 1990-01-01 P35968 VGFR2_HUMAN KDR Vascular endothelial growth factor receptor 2 1356 151.5 4 2.7.10.1 Cell junction; Endoplasmic reticulum; Cell membrane 1 1 Hemangioma, capillary infantile 54 1 5 1994-06-01 Q9UNA4 POLI_HUMAN POLI DNA polymerase iota 740 83 18 2.7.7.7 Nucleus 0 0 54 1 5 2005-02-15 P03950 ANGI_HUMAN ANG Angiogenin 147 16.6 14 3.1.27.- Secreted; Nucleus; Cytoplasm 0 1 Amyotrophic lateral sclerosis 9 54 1 5 1986-10-23 P17612 KAPCA_HUMAN PRKACA cAMP-dependent protein kinase catalytic subunit alpha 351 40.6 19 2.7.11.11 Cytoplasm; Cell membrane; Membrane; Nucleus; Mitochondrion 0 2 Primary pigmented nodular adrenocortical disease 4; Cardioacrofacial dysplasia 1 54 1 5 1990-08-01 Q9Y2J2 E41L3_HUMAN EPB41L3 Band 4.1-like protein 3 1087 120.7 18 Cytoplasm; Cell junction; Cell membrane 0 0 54 1 5 2001-12-05 Q6SZW1 SARM1_HUMAN SARM1 NAD(+) hydrolase SARM1 724 79.4 17 3.2.2.6 Cytoplasm; Cell projection; Synapse; Mitochondrion 0 0 53 1 5 2005-05-10 Q6ZYL4 TF2H5_HUMAN GTF2H5 General transcription factor IIH subunit 5 71 8.1 6 Nucleus; Cytoplasm 0 1 Trichothiodystrophy 3, photosensitive 53 1 5 2005-06-07 P06241 FYN_HUMAN FYN Tyrosine-protein kinase Fyn 537 60.8 6 2.7.10.2 Cytoplasm; Nucleus; Cell membrane; Perikaryon 0 0 53 1 5 1988-01-01 Q96DI7 SNR40_HUMAN SNRNP40 U5 small nuclear ribonucleoprotein 40 kDa protein 357 39.3 1 Nucleus 0 0 53 1 5 2005-06-07 Q9BY41 HDAC8_HUMAN HDAC8 Histone deacetylase 8 377 41.8 X 3.5.1.98 Nucleus; Chromosome; Cytoplasm 0 1 Cornelia de Lange syndrome 5 53 1 5 2003-04-11 P10721 KIT_HUMAN KIT Mast/stem cell growth factor receptor Kit 976 109.9 4 2.7.10.1 Cell membrane 1 6 Piebald trait; Gastrointestinal stromal tumor; Testicular germ cell tumor; Leukemia, acute myelogenous; Mastocytosis, cutaneous; Mastocytosis, systemic 52 1 5 1989-07-01 P22455 FGFR4_HUMAN FGFR4 Fibroblast growth factor receptor 4 802 88 5 2.7.10.1 Cell membrane; Endosome; Endoplasmic reticulum 1 0 52 1 5 1991-08-01 P30419 NMT1_HUMAN NMT1 Glycylpeptide N-tetradecanoyltransferase 1 496 56.8 17 2.3.1.97 Cytoplasm; Membrane 0 0 52 1 5 1993-04-01 Q13888 TF2H2_HUMAN GTF2H2 General transcription factor IIH subunit 2 395 44.4 5 Nucleus 0 0 52 1 5 2001-10-18 P20290 BTF3_HUMAN BTF3 Transcription factor BTF3 206 22.2 5 Cytoplasm; Nucleus 0 0 52 1 5 1991-02-01 P01375 TNFA_HUMAN TNF Tumor necrosis factor 233 25.6 6 Cell membrane 1 2 Psoriatic arthritis; Immunodeficiency 127 52 1 5 1986-07-21 P11473 VDR_HUMAN VDR Vitamin D3 receptor 427 48.3 12 Nucleus; Cytoplasm 0 1 Rickets vitamin D-dependent 2A 52 1 5 1989-10-01 P19447 ERCC3_HUMAN ERCC3 General transcription and DNA repair factor IIH helicase/translocase subunit XPB 782 89.3 2 5.6.2.4 Nucleus 0 2 Xeroderma pigmentosum complementation group B; Trichothiodystrophy 2, photosensitive 52 1 5 1991-02-01 P29597 TYK2_HUMAN TYK2 Non-receptor tyrosine-protein kinase TYK2 1187 133.7 19 2.7.10.2 0 1 Immunodeficiency 35 52 1 5 1993-04-01 P52655 TF2AA_HUMAN GTF2A1 Transcription initiation factor IIA subunit 1 376 41.5 14 Nucleus 0 0 52 1 5 1996-10-01 P32780 TF2H1_HUMAN GTF2H1 General transcription factor IIH subunit 1 548 62 11 Nucleus 0 0 52 1 5 1993-10-01 P09467 F16P1_HUMAN FBP1 Fructose-1,6-bisphosphatase 1 338 36.8 9 3.1.3.11 0 1 Fructose-1,6-bisphosphatase deficiency 51 1 5 1989-07-01 P18074 ERCC2_HUMAN ERCC2 General transcription and DNA repair factor IIH helicase subunit XPD 760 86.9 19 5.6.2.3 Nucleus; Cytoplasm 0 3 Xeroderma pigmentosum complementation group D; Trichothiodystrophy 1, photosensitive; Cerebro-oculo-facio-skeletal syndrome 2 51 1 5 1990-11-01 P23458 JAK1_HUMAN JAK1 Tyrosine-protein kinase JAK1 1154 133.3 1 2.7.10.2 Endomembrane system 0 1 Autoinflammation, immune dysregulation, and eosinophilia 51 1 5 1991-11-01 P36544 ACHA7_HUMAN CHRNA7 Neuronal acetylcholine receptor subunit alpha-7 502 56.4 15 Postsynaptic cell membrane; Cell membrane 4 0 51 1 5 1994-06-01 P08603 CFAH_HUMAN CFH Complement factor H 1231 139.1 1 Secreted 0 4 Basal laminar drusen; Complement factor H deficiency; Hemolytic uremic syndrome, atypical, 1; Macular degeneration, age-related, 4 51 1 5 1988-08-01 Q92759 TF2H4_HUMAN GTF2H4 General transcription factor IIH subunit 4 462 52.2 6 Nucleus 0 1 Xeroderma pigmentosum, complementation group J 51 1 5 2001-10-18 Q9UBH6 S53A1_HUMAN XPR1 Solute carrier family 53 member 1 696 81.5 1 Cell membrane 10 1 Basal ganglia calcification, idiopathic, 6 51 1 5 2008-02-05 P04746 AMYP_HUMAN AMY2A Pancreatic alpha-amylase 511 57.7 1 3.2.1.1 Secreted 0 0 51 1 5 1987-08-13 Q13889 TF2H3_HUMAN GTF2H3 General transcription factor IIH subunit 3 308 34.4 12 Nucleus 0 0 51 1 5 2001-10-18 O76074 PDE5A_HUMAN PDE5A cGMP-specific 3',5'-cyclic phosphodiesterase 875 100 4 3.1.4.35 0 0 50 1 5 1999-07-15 P21589 5NTD_HUMAN NT5E 5'-nucleotidase 574 63.4 6 3.1.3.35, 3.1.3.5, 3.1.3.89, 3.1.3.91, 3.1.3.99 Cell membrane 0 1 Calcification of joints and arteries 50 1 5 1991-05-01 O94925 GLSK_HUMAN GLS Glutaminase kidney isoform, mitochondrial 669 73.5 2 3.5.1.2 Mitochondrion; Cytoplasm 0 3 Developmental and epileptic encephalopathy 71; CASGID syndrome; Global developmental delay, progressive ataxia, and elevated glutamine 50 1 5 2001-01-24 P35222 CTNB1_HUMAN CTNNB1 Catenin beta-1 781 85.5 3 Cytoplasm; Nucleus; Cell junction; Cell membrane; Synapse 0 7 Colorectal cancer; Pilomatrixoma; Medulloblastoma; Ovarian cancer; Mesothelioma, malignant; Neurodevelopmental disorder with spastic diplegia and visual defects; Vitreoretinopathy, exudative 7 50 1 5 1994-02-01 P67775 PP2AA_HUMAN PPP2CA Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform 309 35.6 5 3.1.3.16 Cytoplasm; Nucleus; Chromosome 0 1 Houge-Janssens syndrome 3 50 1 5 2004-10-11 P45452 MMP13_HUMAN MMP13 Collagenase 3 471 53.8 11 3.4.24.- Secreted 0 3 Spondyloepimetaphyseal dysplasia, Missouri type; Metaphyseal anadysplasia 1; Metaphyseal dysplasia, Spahr type 49 1 5 1995-11-01 Q09028 RBBP4_HUMAN RBBP4 Histone-binding protein RBBP4 425 47.7 1 Nucleus; Chromosome 0 0 49 1 5 1995-11-01 O96013 PAK4_HUMAN PAK4 Serine/threonine-protein kinase PAK 4 591 64.1 19 2.7.11.1 Cytoplasm 0 0 49 1 5 2001-01-24 P05164 PERM_HUMAN MPO Myeloperoxidase 745 83.9 17 1.11.2.2 Lysosome; Cytolytic granule; Cytoplasmic vesicle; Secreted; Nucleus; Chromosome 0 1 Myeloperoxidase deficiency 49 1 5 1987-08-13 P00747 PLMN_HUMAN PLG Plasminogen 810 90.6 6 Secreted 0 2 Plasminogen deficiency; Angioedema, hereditary, 4 49 1 5 1986-07-21 P08579 RU2B_HUMAN SNRPB2 U2 small nuclear ribonucleoprotein B'' 225 25.5 20 Nucleus 0 0 49 1 5 1988-08-01 P09661 RU2A_HUMAN SNRPA1 U2 small nuclear ribonucleoprotein A' 255 28.4 15 Nucleus 0 0 49 1 5 1989-07-01 Q9GZQ8 MLP3B_HUMAN MAP1LC3B Microtubule-associated protein 1 light chain 3 beta 125 14.7 16 Cytoplasmic vesicle; Endomembrane system; Mitochondrion membrane; Cytoplasm 0 0 49 1 5 2001-12-05 P04179 SODM_HUMAN SOD2 Superoxide dismutase [Mn], mitochondrial 222 24.8 6 1.15.1.1 Mitochondrion matrix 0 1 Microvascular complications of diabetes 6 48 1 5 1987-03-20 P04275 VWF_HUMAN VWF von Willebrand factor 2813 309.3 12 Secreted 0 3 von Willebrand disease 1; von Willebrand disease 2; von Willebrand disease 3 48 1 5 1987-03-20 Q12962 TAF10_HUMAN TAF10 Transcription initiation factor TFIID subunit 10 218 21.7 11 Nucleus 0 0 48 1 5 1998-07-15 Q13616 CUL1_HUMAN CUL1 Cullin-1 776 89.7 7 0 0 48 1 5 1997-11-01 Q15459 SF3A1_HUMAN SF3A1 Splicing factor 3A subunit 1 793 88.9 22 Nucleus; Nucleus speckle 0 0 48 1 5 1997-11-01 Q9NUW8 TYDP1_HUMAN TDP1 Tyrosyl-DNA phosphodiesterase 1 608 68.4 14 3.1.4.- Nucleus; Cytoplasm 0 1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 48 1 5 2003-10-24 P09958 FURIN_HUMAN FURIN Furin 794 86.7 15 3.4.21.75 Golgi apparatus; Cell membrane; Secreted; Endosome membrane 1 0 48 1 5 1989-07-01 Q8TEK3 DOT1L_HUMAN DOT1L Histone-lysine N-methyltransferase, H3 lysine-79 specific 1537 164.9 19 2.1.1.360 Nucleus; Cytoplasm 0 1 Nil-Deshwar neurodevelopmental syndrome 48 1 5 2002-11-15 Q92769 HDAC2_HUMAN HDAC2 Histone deacetylase 2 488 55.4 6 3.5.1.98 Nucleus; Cytoplasm 0 0 48 1 5 1998-07-15 Q460N3 PAR15_HUMAN PARP15 Protein mono-ADP-ribosyltransferase PARP15 678 74.6 3 2.4.2.- Nucleus 0 0 48 1 5 2006-10-17 P29083 T2EA_HUMAN GTF2E1 General transcription factor IIE subunit 1 439 49.5 3 Nucleus 0 0 48 1 5 1992-12-01 P56537 IF6_HUMAN EIF6 Eukaryotic translation initiation factor 6 245 26.6 20 Cytoplasm; Nucleus 0 0 48 1 5 1998-07-15 Q15059 BRD3_HUMAN BRD3 Bromodomain-containing protein 3 726 79.5 9 Nucleus; Chromosome 0 0 48 1 5 2001-01-11 P02679 FIBG_HUMAN FGG Fibrinogen gamma chain 453 51.5 4 Secreted 0 2 Congenital afibrinogenemia; Dysfibrinogenemia, congenital 47 1 5 1986-07-21 P32322 P5CR1_HUMAN PYCR1 Pyrroline-5-carboxylate reductase 1, mitochondrial 319 33.4 17 1.5.1.2 Mitochondrion 0 2 Cutis laxa, autosomal recessive, 2B; Cutis laxa, autosomal recessive, 3B 47 1 5 1993-10-01 P51946 CCNH_HUMAN CCNH Cyclin-H 323 37.6 5 Nucleus 0 0 47 1 5 1996-10-01 Q13435 SF3B2_HUMAN SF3B2 Splicing factor 3B subunit 2 895 100.2 11 Nucleus; Nucleus speckle 0 1 Craniofacial microsomia 1 47 1 5 1997-11-01 Q06609 RAD51_HUMAN RAD51 DNA repair protein RAD51 homolog 1 339 37 15 3.6.4.- Chromosome; Nucleus; Cytoplasm; Mitochondrion matrix 0 3 Breast cancer; Mirror movements 2; Fanconi anemia, complementation group R 47 1 5 1994-06-01 Q460N5 PAR14_HUMAN PARP14 Protein mono-ADP-ribosyltransferase PARP14 1801 202.8 3 2.4.2.- Nucleus; Cytoplasm 0 0 47 1 5 2006-07-25 P78527 PRKDC_HUMAN PRKDC DNA-dependent protein kinase catalytic subunit 4128 469.1 8 2.7.11.1 Nucleus; Cytoplasm 0 1 Immunodeficiency 26 with or without neurologic abnormalities 47 1 5 2001-04-27 O15527 OGG1_HUMAN OGG1 N-glycosylase/DNA lyase 345 38.8 3 Nucleus; Nucleus speckle; Nucleus matrix 0 1 Renal cell carcinoma 47 1 5 2000-12-01 Q05315 LEG10_HUMAN CLC Galectin-10 142 16.5 19 Cytoplasm; Cytoplasmic granule 0 0 47 1 5 1994-06-01 Q9UBC3 DNM3B_HUMAN DNMT3B DNA (cytosine-5)-methyltransferase 3B 853 95.8 20 2.1.1.37 Nucleus 0 2 Immunodeficiency-centromeric instability-facial anomalies syndrome 1; Facioscapulohumeral muscular dystrophy 4, digenic 47 1 5 2001-09-26 Q9UBK2 PRGC1_HUMAN PPARGC1A Peroxisome proliferator-activated receptor gamma coactivator 1-alpha 798 91 4 Nucleus 0 0 47 1 5 2004-05-10 P55210 CASP7_HUMAN CASP7 Caspase-7 303 34.3 10 3.4.22.60 Cytoplasm; Nucleus; Secreted 0 0 47 1 5 1996-10-01 P00338 LDHA_HUMAN LDHA L-lactate dehydrogenase A chain 332 36.7 11 1.1.1.27 Cytoplasm 0 1 Glycogen storage disease 11 46 1 5 1986-07-21 P29375 KDM5A_HUMAN KDM5A Lysine-specific demethylase 5A 1690 192.1 12 1.14.11.67 Nucleus 0 1 El Hayek-Chahrour neurodevelopmental syndrome 46 1 5 1992-12-01 P48730 KC1D_HUMAN CSNK1D Casein kinase I isoform delta 415 47.3 17 2.7.11.1 Cytoplasm; Nucleus; Cell membrane; Golgi apparatus 0 1 Advanced sleep phase syndrome, familial, 2 46 1 5 1996-02-01 P60953 CDC42_HUMAN CDC42 Cell division control protein 42 homolog 191 21.3 1 3.6.5.2 Cell membrane; Cytoplasm; Midbody; Cell projection; Cytoplasmic vesicle 0 1 Takenouchi-Kosaki syndrome 46 1 5 2004-04-13 P01009 A1AT_HUMAN SERPINA1 Alpha-1-antitrypsin 418 46.7 14 Secreted; Endoplasmic reticulum 0 1 Alpha-1-antitrypsin deficiency 46 1 5 1986-07-21 P08069 IGF1R_HUMAN IGF1R Insulin-like growth factor 1 receptor 1367 154.8 15 2.7.10.1 Cell membrane 1 1 Insulin-like growth factor 1 resistance 46 1 5 1988-08-01 P62136 PP1A_HUMAN PPP1CA Serine/threonine-protein phosphatase PP1-alpha catalytic subunit 330 37.5 11 3.1.3.16 Cytoplasm; Nucleus; Postsynaptic density 0 0 46 1 5 1988-08-01 O43521 B2L11_HUMAN BCL2L11 Bcl-2-like protein 11 198 22.2 2 Endomembrane system 0 0 45 1 5 2001-10-18 Q12830 BPTF_HUMAN BPTF Nucleosome-remodeling factor subunit BPTF 3046 338.3 17 Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 45 1 5 1999-07-15 Q12888 TP53B_HUMAN TP53BP1 TP53-binding protein 1 1972 213.6 15 Nucleus; Chromosome 0 0 45 1 5 1998-07-15 P06730 IF4E_HUMAN EIF4E Eukaryotic translation initiation factor 4E 217 25.1 4 Cytoplasm; Nucleus; Nucleus speckle 0 1 Autism 19 45 1 5 1988-01-01 P61077 UB2D3_HUMAN UBE2D3 Ubiquitin-conjugating enzyme E2 D3 147 16.7 4 2.3.2.23 Cell membrane; Endosome membrane 0 0 45 1 5 2004-04-26 Q92918 M4K1_HUMAN MAP4K1 Mitogen-activated protein kinase kinase kinase kinase 1 833 91.3 19 2.7.11.1 0 0 45 1 5 2003-03-28 Q96T88 UHRF1_HUMAN UHRF1 E3 ubiquitin-protein ligase UHRF1 793 89.8 19 2.3.2.27 Nucleus; Chromosome 0 0 45 1 5 2005-06-07 P31641 SC6A6_HUMAN SLC6A6 Sodium- and chloride-dependent taurine transporter 620 69.8 3 Cell membrane; Mitochondrion inner membrane 12 1 Hypotaurinemic retinal degeneration and cardiomyopathy 45 1 5 1993-07-01 Q8N6T7 SIR6_HUMAN SIRT6 NAD-dependent protein deacylase sirtuin-6 355 39.1 19 2.3.1.- Nucleus; Chromosome; Endoplasmic reticulum 0 0 45 1 5 2003-10-31 Q9BVC4 LST8_HUMAN MLST8 Target of rapamycin complex subunit LST8 326 35.9 16 Lysosome membrane; Cytoplasm 0 0 45 1 5 2008-04-08 P36897 TGFR1_HUMAN TGFBR1 TGF-beta receptor type-1 503 56 9 2.7.11.30 Cell membrane; Cell junction; Cell surface; Membrane raft 1 2 Loeys-Dietz syndrome 1; Multiple self-healing squamous epithelioma 44 1 5 1994-06-01 P61088 UBE2N_HUMAN UBE2N Ubiquitin-conjugating enzyme E2 N 152 17.1 12 2.3.2.23 Nucleus; Cytoplasm 0 0 44 1 5 2004-04-26 Q96BP2 CHCH1_HUMAN CHCHD1 Small ribosomal subunit protein mS37 118 13.5 10 Mitochondrion; Nucleus 0 0 44 1 5 2005-04-12 P08254 MMP3_HUMAN MMP3 Stromelysin-1 477 54 11 3.4.24.17 Secreted; Nucleus; Cytoplasm 0 1 Coronary heart disease 6 44 1 5 1988-08-01 O00481 BT3A1_HUMAN BTN3A1 Butyrophilin subfamily 3 member A1 513 57.7 6 Cell membrane 1 0 44 1 5 2005-02-01 Q5S007 LRRK2_HUMAN LRRK2 Leucine-rich repeat serine/threonine-protein kinase 2 2527 286.1 12 2.7.11.1, 3.6.5.- Cytoplasmic vesicle; Perikaryon; Golgi apparatus membrane; Cell projection; Endoplasmic reticulum membrane; Endosome; Lysosome; Mitochondrion outer membrane; Cytoplasm 0 1 Parkinson disease 8 44 1 5 2006-01-24 O15294 OGT1_HUMAN OGT UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit 1046 116.9 X 2.4.1.255 Nucleus; Cytoplasm 0 1 Intellectual developmental disorder, X-linked 106 44 1 5 2000-05-30 P11086 PNMT_HUMAN PNMT Phenylethanolamine N-methyltransferase 282 30.9 17 2.1.1.28 0 0 44 1 5 1989-07-01 Q9NTG7 SIR3_HUMAN SIRT3 NAD-dependent protein deacetylase sirtuin-3, mitochondrial 399 43.6 11 2.3.1.286 Mitochondrion matrix 0 0 44 1 5 2003-10-31 O95786 RIGI_HUMAN RIGI Antiviral innate immune response receptor RIG-I 925 106.6 9 Cytoplasm; Cell projection; Cell junction 0 1 Singleton-Merten syndrome 2 44 1 5 2005-11-08 Q13148 TADBP_HUMAN TARDBP TAR DNA-binding protein 43 414 44.7 1 Nucleus; Cytoplasm; Mitochondrion 0 1 Amyotrophic lateral sclerosis 10 44 1 5 2002-03-27 Q16552 IL17_HUMAN IL17A Interleukin-17A 155 17.5 6 Secreted 0 0 44 1 5 1997-11-01 Q12797 ASPH_HUMAN ASPH Aspartyl/asparaginyl beta-hydroxylase 758 85.9 8 1.14.11.16 Endoplasmic reticulum membrane 1 1 Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs 43 1 5 1997-11-01 Q9H7Z6 KAT8_HUMAN KAT8 Histone acetyltransferase KAT8 458 52.4 16 2.3.1.48 Nucleus; Chromosome; Mitochondrion 0 1 Li-Ghorbani-Weisz-Hubshman syndrome 43 1 5 2005-07-05 Q9Y4B6 DCAF1_HUMAN DCAF1 DDB1- and CUL4-associated factor 1 1507 169 3 Cytoplasm; Nucleus 0 0 43 1 5 2007-05-15 P08195 4F2_HUMAN SLC3A2 Amino acid transporter heavy chain SLC3A2 529 57.9 11 Apical cell membrane; Cell membrane; Cell junction; Lysosome membrane; Melanosome; Basolateral cell membrane 1 0 43 1 5 1988-08-01 Q15843 NEDD8_HUMAN NEDD8 Ubiquitin-like protein NEDD8 81 9.1 14 Nucleus 0 0 43 1 5 1997-11-01 Q15858 SCN9A_HUMAN SCN9A Sodium channel protein type 9 subunit alpha 1988 226.4 2 Cell membrane; Cell projection 24 3 Primary erythermalgia; Indifference to pain, congenital, autosomal recessive; Paroxysmal extreme pain disorder 43 1 5 2004-11-23 O95166 GBRAP_HUMAN GABARAP Gamma-aminobutyric acid receptor-associated protein 117 13.9 17 Cytoplasmic vesicle; Endomembrane system; Cytoplasm; Golgi apparatus membrane 0 0 43 1 5 2004-03-01 P41212 ETV6_HUMAN ETV6 Transcription factor ETV6 452 53 12 Nucleus 0 3 Myeloproliferative disorder chronic with eosinophilia; Leukemia, acute myelogenous; Thrombocytopenia 5 43 1 5 1995-02-01 Q99814 EPAS1_HUMAN EPAS1 Endothelial PAS domain-containing protein 1 870 96.5 2 Nucleus; Nucleus speckle 0 1 Erythrocytosis, familial, 4 43 1 5 1998-12-15 P07766 CD3E_HUMAN CD3E T-cell surface glycoprotein CD3 epsilon chain 207 23.1 11 Cell membrane 1 1 Immunodeficiency 18 43 1 5 1988-08-01 P12883 MYH7_HUMAN MYH7 Myosin-7 1935 223.1 14 Cytoplasm 0 6 Cardiomyopathy, familial hypertrophic, 1; Congenital myopathy 7A, myosin storage, autosomal dominant; Cardiomyopathy, dilated, 1S; Myopathy, distal, 1; Congenital myopathy 7B, myosin storage, autosomal recessive; Left ventricular non-compaction 5 43 1 5 1989-10-01 P31749 AKT1_HUMAN AKT1 RAC-alpha serine/threonine-protein kinase 480 55.7 14 2.7.11.1 Cytoplasm; Nucleus; Cell membrane; Mitochondrion intermembrane space 0 4 Breast cancer; Colorectal cancer; Proteus syndrome; Cowden syndrome 6 43 1 5 1993-07-01 Q12874 SF3A3_HUMAN SF3A3 Splicing factor 3A subunit 3 501 58.8 1 Nucleus speckle; Nucleus 0 0 43 1 5 2001-08-29 Q16769 QPCT_HUMAN QPCT Glutaminyl-peptide cyclotransferase 361 40.9 2 2.3.2.5 Secreted 0 0 43 1 5 1997-11-01 Q9Y6K1 DNM3A_HUMAN DNMT3A DNA (cytosine-5)-methyltransferase 3A 912 101.9 2 2.1.1.37 Nucleus; Chromosome; Cytoplasm 0 3 Tatton-Brown-Rahman syndrome; Leukemia, acute myelogenous; Heyn-Sproul-Jackson syndrome 43 1 5 2001-09-26 O00408 PDE2A_HUMAN PDE2A cGMP-dependent 3',5'-cyclic phosphodiesterase 941 105.7 11 3.1.4.17 Cell membrane 0 1 Intellectual developmental disorder with paroxysmal dyskinesia or seizures 43 1 5 1998-07-15 P27540 ARNT_HUMAN ARNT Aryl hydrocarbon receptor nuclear translocator 789 86.6 1 Nucleus 0 0 43 1 5 1992-08-01 P49902 5NTC_HUMAN NT5C2 Cytosolic purine 5'-nucleotidase 561 65 10 3.1.3.5, 3.1.3.99 Cytoplasm 0 1 Spastic paraplegia 45, autosomal recessive 43 1 5 1996-10-01 P62508 ERR3_HUMAN ESRRG Estrogen-related receptor gamma 458 51.3 1 Nucleus 0 0 43 1 5 2004-07-19 Q9BYW2 SETD2_HUMAN SETD2 Histone-lysine N-methyltransferase SETD2 2564 287.6 3 2.1.1.359 Nucleus; Chromosome 0 6 Renal cell carcinoma; Luscan-Lumish syndrome; Leukemia, acute lymphoblastic; Leukemia, acute myelogenous; Intellectual developmental disorder, autosomal dominant 70; Rabin-Pappas syndrome 43 1 5 2006-10-17 P01275 GLUC_HUMAN GCG Pro-glucagon 180 20.9 2 Secreted 0 0 42 1 5 1986-07-21 P27694 RFA1_HUMAN RPA1 Replication protein A 70 kDa DNA-binding subunit 616 68.1 17 Nucleus 0 1 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 6 42 1 5 1992-08-01 P29084 T2EB_HUMAN GTF2E2 Transcription initiation factor IIE subunit beta 291 33 8 Nucleus 0 1 Trichothiodystrophy 6, non-photosensitive 42 1 5 1992-12-01 P01031 CO5_HUMAN C5 Complement C5 1676 188.3 9 Secreted 0 1 Complement component 5 deficiency 42 1 5 1986-07-21 P23946 CMA1_HUMAN CMA1 Chymase 247 27.3 14 3.4.21.39 Secreted; Cytoplasmic granule 0 0 42 1 5 1992-03-01 P29466 CASP1_HUMAN CASP1 Caspase-1 404 45.2 11 3.4.22.36 Cytoplasm; Cell membrane 0 0 42 1 5 1993-04-01 P30518 V2R_HUMAN AVPR2 Vasopressin V2 receptor 371 40.3 X Cell membrane 7 2 Nephrogenic syndrome of inappropriate antidiuresis; Diabetes insipidus, nephrogenic, 1, X-linked 42 1 5 1993-04-01 P52333 JAK3_HUMAN JAK3 Tyrosine-protein kinase JAK3 1124 125.1 19 2.7.10.2 Endomembrane system; Cytoplasm 0 1 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative 42 1 5 1996-10-01 Q07343 PDE4B_HUMAN PDE4B 3',5'-cyclic-AMP phosphodiesterase 4B 736 83.3 1 3.1.4.53 Cytoplasm; Cell membrane 0 0 42 1 5 1995-02-01 Q12866 MERTK_HUMAN MERTK Tyrosine-protein kinase Mer 999 110.2 2 2.7.10.1 Cell membrane 1 1 Retinitis pigmentosa 38 42 1 5 2000-12-01 Q15427 SF3B4_HUMAN SF3B4 Splicing factor 3B subunit 4 424 44.4 1 Nucleus 0 1 Acrofacial dysostosis 1, Nager type 42 1 5 1997-11-01 O75909 CCNK_HUMAN CCNK Cyclin-K 580 64.2 14 Nucleus 0 1 Intellectual developmental disorder with hypertelorism and distinctive facies 42 1 5 2000-12-01 O95271 TNKS1_HUMAN TNKS Poly [ADP-ribose] polymerase tankyrase-1 1327 142 8 2.4.2.30 Cytoplasm; Golgi apparatus membrane; Nucleus; Chromosome 0 0 42 1 5 2002-03-27 P28845 DHI1_HUMAN HSD11B1 11-beta-hydroxysteroid dehydrogenase 1 292 32.4 1 1.1.1.146 Endoplasmic reticulum membrane 1 1 Cortisone reductase deficiency 2 42 1 5 1992-12-01 Q13617 CUL2_HUMAN CUL2 Cullin-2 745 87 10 Nucleus 0 0 42 1 5 1997-11-01 Q14191 WRN_HUMAN WRN Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN 1432 162.5 8 Nucleus; Chromosome 0 2 Werner syndrome; Colorectal cancer 42 1 5 1998-12-15 Q15562 TEAD2_HUMAN TEAD2 Transcriptional enhancer factor TEF-4 447 49.2 19 Nucleus 0 0 42 1 5 1997-11-01 O14561 ACPM_HUMAN NDUFAB1 Acyl carrier protein, mitochondrial 156 17.4 16 Mitochondrion 0 0 41 1 5 1999-07-15 P07355 ANXA2_HUMAN ANXA2 Annexin A2 339 38.6 15 Secreted; Melanosome 0 0 41 1 5 1988-04-01 P09382 LEG1_HUMAN LGALS1 Galectin-1 135 14.7 22 Secreted; Cytoplasm 0 0 41 1 5 1989-07-01 P20701 ITAL_HUMAN ITGAL Integrin alpha-L 1170 128.8 16 Cell membrane; Membrane raft 1 0 41 1 5 1991-02-01 P46937 YAP1_HUMAN YAP1 Transcriptional coactivator YAP1 504 54.5 11 Cytoplasm; Nucleus; Cell junction; Cell membrane 0 1 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development 41 1 5 1995-11-01 Q13153 PAK1_HUMAN PAK1 Serine/threonine-protein kinase PAK 1 545 60.6 11 2.7.11.1 Cytoplasm; Cell junction; Cell projection; Cell membrane; Nucleus; Chromosome 0 1 Intellectual developmental disorder with macrocephaly, seizures, and speech delay 41 1 5 1997-11-01 P00491 PNPH_HUMAN PNP Purine nucleoside phosphorylase 289 32.1 14 2.4.2.1 Cytoplasm 0 1 Purine nucleoside phosphorylase deficiency 41 1 5 1986-07-21 P30153 2AAA_HUMAN PPP2R1A Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform 589 65.3 19 Cytoplasm; Nucleus; Chromosome; Lateral cell membrane; Cell projection 0 1 Houge-Janssens syndrome 2 41 1 5 1993-04-01 P02675 FIBB_HUMAN FGB Fibrinogen beta chain 491 55.9 4 Secreted 0 2 Congenital afibrinogenemia; Dysfibrinogenemia, congenital 41 1 5 1986-07-21 P53582 MAP11_HUMAN METAP1 Methionine aminopeptidase 1 386 43.2 4 3.4.11.18 Cytoplasm 0 0 41 1 5 1996-10-01 Q8TF76 HASP_HUMAN HASPIN Serine/threonine-protein kinase haspin 798 88.5 17 2.7.11.1 Nucleus; Chromosome; Cytoplasm 0 0 41 1 5 2004-03-01 P26368 U2AF2_HUMAN U2AF2 Splicing factor U2AF 65 kDa subunit 475 53.5 19 Nucleus 0 1 Developmental delay, dysmorphic facies, and brain anomalies 40 1 5 1992-08-01 O43924 PDE6D_HUMAN PDE6D Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta 150 17.4 2 Cytoplasm; Cytoplasmic vesicle membrane 0 1 Joubert syndrome 22 40 1 5 1999-07-15 Q05397 FAK1_HUMAN PTK2 Focal adhesion kinase 1 1052 119.2 8 2.7.10.2 Cell junction; Cell membrane; Cytoplasm; Nucleus 0 0 40 1 5 1994-02-01 O43570 CAH12_HUMAN CA12 Carbonic anhydrase 12 354 39.5 15 4.2.1.1 Membrane; Cell membrane 1 1 Hyperchlorhidrosis, isolated 40 1 5 1999-07-15 P00746 CFAD_HUMAN CFD Complement factor D 253 27 19 3.4.21.46 Secreted 0 1 Complement factor D deficiency 40 1 5 1986-07-21 P08631 HCK_HUMAN HCK Tyrosine-protein kinase HCK 526 59.6 20 2.7.10.2 Cytoplasmic vesicle; Cytoplasm 0 1 Autoinflammation with pulmonary and cutaneous vasculitis 40 1 5 1988-08-01 P22102 PUR2_HUMAN GART Trifunctional purine biosynthetic protein adenosine-3 1010 107.8 21 0 0 40 1 5 1991-08-01 Q15428 SF3A2_HUMAN SF3A2 Splicing factor 3A subunit 2 464 49.3 19 Nucleus 0 0 40 1 5 1997-11-01 P50579 MAP2_HUMAN METAP2 Methionine aminopeptidase 2 478 52.9 12 3.4.11.18 Cytoplasm 0 0 40 1 5 1996-10-01 Q03431 PTH1R_HUMAN PTH1R Parathyroid hormone/parathyroid hormone-related peptide receptor 593 66.4 3 Cell membrane 7 4 Metaphyseal chondrodysplasia, Jansen type; Chondrodysplasia Blomstrand type; Eiken syndrome; Primary failure of tooth eruption 40 1 5 1993-10-01 Q8TDS4 HCAR2_HUMAN HCAR2 Hydroxycarboxylic acid receptor 2 363 41.9 12 Cell membrane 7 0 40 1 5 2005-12-06 Q9Y6E0 STK24_HUMAN STK24 Serine/threonine-protein kinase 24 443 49.3 13 2.7.11.1 Cytoplasm; Nucleus; Membrane 0 0 40 1 5 2001-02-21 O00214 LEG8_HUMAN LGALS8 Galectin-8 317 35.8 1 Cytoplasmic vesicle; Cytoplasm 0 0 39 1 5 1997-11-01 P68363 TBA1B_HUMAN TUBA1B Tubulin alpha-1B chain 451 50.2 12 3.6.5.- Cytoplasm 0 0 39 1 5 1987-08-13 Q9NYV4 CDK12_HUMAN CDK12 Cyclin-dependent kinase 12 1490 164.2 17 2.7.11.22, 2.7.11.23 Nucleus; Nucleus speckle 0 0 39 1 5 2000-12-01 O15151 MDM4_HUMAN MDM4 Protein Mdm4 490 54.9 1 Nucleus; Cytoplasm 0 1 Bone marrow failure syndrome 6 39 1 5 2000-05-30 P02671 FIBA_HUMAN FGA Fibrinogen alpha chain 866 95 4 Secreted 0 3 Congenital afibrinogenemia; Amyloidosis, hereditary systemic 2; Dysfibrinogenemia, congenital 39 1 5 1986-07-21 P08263 GSTA1_HUMAN GSTA1 Glutathione S-transferase A1 222 25.6 6 2.5.1.18 Cytoplasm 0 0 39 1 5 1988-08-01 P19429 TNNI3_HUMAN TNNI3 Troponin I, cardiac muscle 210 24 19 0 4 Cardiomyopathy, familial hypertrophic, 7; Cardiomyopathy, familial restrictive 1; Cardiomyopathy, dilated, 2A; Cardiomyopathy, dilated, 1FF 39 1 5 1991-02-01 Q13546 RIPK1_HUMAN RIPK1 Receptor-interacting serine/threonine-protein kinase 1 671 75.9 6 2.7.11.1 Cytoplasm; Cell membrane 0 2 Immunodeficiency 57 with autoinflammation; Autoinflammation with episodic fever and lymphadenopathy 39 1 5 1997-11-01 Q8IYW5 RN168_HUMAN RNF168 E3 ubiquitin-protein ligase RNF168 571 65 3 2.3.2.27 Nucleus 0 1 Riddle syndrome 39 1 5 2006-07-11 Q92731 ESR2_HUMAN ESR2 Estrogen receptor beta 530 59.2 14 Nucleus 0 1 Ovarian dysgenesis 8 39 1 5 1999-07-15 Q9BZE4 GTPB4_HUMAN GTPBP4 GTP-binding protein 4 634 74 10 Nucleus 0 0 39 1 5 2001-10-24 P28223 5HT2A_HUMAN HTR2A 5-hydroxytryptamine receptor 2A 471 52.6 13 Cell membrane; Cell projection; Cytoplasmic vesicle; Membrane; Presynapse 7 0 39 1 5 1992-12-01 P45983 MK08_HUMAN MAPK8 Mitogen-activated protein kinase 8 427 48.3 10 2.7.11.24 Cytoplasm; Nucleus; Synapse 0 0 39 1 5 1995-11-01 Q9NR97 TLR8_HUMAN TLR8 Toll-like receptor 8 1041 119.8 X Endosome membrane 1 1 Immunodeficiency 98 with autoinflammation, X-linked 39 1 5 2002-01-31 Q9UHA3 RLP24_HUMAN RSL24D1 Probable ribosome biogenesis protein RLP24 163 19.6 15 Nucleus 0 0 39 1 4 2004-09-27 P0C024 NUDT7_HUMAN NUDT7 Peroxisomal coenzyme A diphosphatase NUDT7 238 26.9 16 3.6.1.-, 3.6.1.77 Peroxisome 0 0 38 1 5 2005-07-05 P08246 ELNE_HUMAN ELANE Neutrophil elastase 267 28.5 19 3.4.21.37 Cytoplasmic vesicle; Lysosome; Cytolytic granule; Nucleus 0 2 Cyclic haematopoiesis; Neutropenia, severe congenital 1, autosomal dominant 38 1 5 1988-08-01 P09693 CD3G_HUMAN CD3G T-cell surface glycoprotein CD3 gamma chain 182 20.5 11 Cell membrane 1 1 Immunodeficiency 17 38 1 5 1989-07-01 P20963 CD3Z_HUMAN CD247 T-cell surface glycoprotein CD3 zeta chain 164 18.7 1 Cell membrane 1 1 Immunodeficiency 25 38 1 5 1991-02-01 Q15119 PDK2_HUMAN PDK2 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 2, mitochondrial 407 46.2 17 2.7.11.2 Mitochondrion matrix 0 0 38 1 5 1998-07-15 P11142 HSP7C_HUMAN HSPA8 Heat shock cognate 71 kDa protein 646 70.9 11 3.6.4.10 Cytoplasm; Melanosome; Nucleus; Cell membrane; Lysosome membrane 0 0 38 1 5 1989-07-01 O96017 CHK2_HUMAN CHEK2 Serine/threonine-protein kinase Chk2 543 60.9 22 2.7.11.1 Nucleus 0 4 Tumor predisposition syndrome 4; Prostate cancer; Osteogenic sarcoma; Breast cancer 38 1 5 2000-05-30 P50053 KHK_HUMAN KHK Ketohexokinase 298 32.5 2 2.7.1.3 0 1 Fructosuria 38 1 5 1996-10-01 Q15910 EZH2_HUMAN EZH2 Histone-lysine N-methyltransferase EZH2 746 85.4 7 2.1.1.356 Nucleus 0 1 Weaver syndrome 38 1 5 1998-07-15 P49759 CLK1_HUMAN CLK1 Dual specificity protein kinase CLK1 484 57.3 2 2.7.12.1 Nucleus 0 0 38 1 5 1996-10-01 Q9UHN1 DPOG2_HUMAN POLG2 DNA polymerase subunit gamma-2 485 54.9 17 Mitochondrion; Mitochondrion matrix 0 3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4; Mitochondrial DNA depletion syndrome 16, hepatic type; Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type 38 1 5 2001-11-16 Q9Y230 RUVB2_HUMAN RUVBL2 RuvB-like 2 463 51.2 19 3.6.4.12 Nucleus matrix; Nucleus; Cytoplasm; Membrane; Dynein axonemal particle 0 0 38 1 5 2003-02-01 P35414 APJ_HUMAN APLNR Apelin receptor 380 42.7 11 Cell membrane 7 0 37 1 5 1994-06-01 P07148 FABPL_HUMAN FABP1 Fatty acid-binding protein, liver 127 14.2 2 Cytoplasm 0 0 37 1 5 1988-04-01 P08173 ACM4_HUMAN CHRM4 Muscarinic acetylcholine receptor M4 479 53 11 Cell membrane; Postsynaptic cell membrane 7 0 37 1 5 1988-08-01 Q08881 ITK_HUMAN ITK Tyrosine-protein kinase ITK/TSK 620 71.8 5 2.7.10.2 Cytoplasm; Nucleus 0 1 Lymphoproliferative syndrome 1 37 1 5 1994-10-01 Q12879 NMDE1_HUMAN GRIN2A Glutamate receptor ionotropic, NMDA 2A 1464 165.3 16 Cell projection; Cell membrane; Synapse; Postsynaptic cell membrane; Cytoplasmic vesicle membrane 3 1 Epilepsy, focal, with speech disorder and with or without impaired intellectual development 37 1 5 2001-06-01 P27635 RL10_HUMAN RPL10 Large ribosomal subunit protein uL16 214 24.6 X Cytoplasm 0 2 Autism, X-linked 5; Intellectual developmental disorder, X-linked, syndromic 35 37 1 5 1992-08-01 Q15116 PDCD1_HUMAN PDCD1 Programmed cell death protein 1 288 31.6 2 Cell membrane 1 1 Autoimmune disease, multisystem, infantile-onset, 4 37 1 5 1997-11-01 O14733 MP2K7_HUMAN MAP2K7 Dual specificity mitogen-activated protein kinase kinase 7 419 47.5 19 2.7.12.2 Nucleus; Cytoplasm 0 0 37 1 5 2000-05-30 P04899 GNAI2_HUMAN GNAI2 Guanine nucleotide-binding protein G(i) subunit alpha-2 355 40.5 3 3.6.5.- Cytoplasm; Cell membrane; Membrane 0 0 37 1 5 1987-08-13 P10599 THIO_HUMAN TXN Thioredoxin 105 11.7 9 Nucleus; Cytoplasm; Secreted 0 0 37 1 5 1989-07-01 P60568 IL2_HUMAN IL2 Interleukin-2 153 17.6 4 Secreted 0 0 37 1 5 1986-07-21 Q96PN6 ADCYA_HUMAN ADCY10 Adenylate cyclase type 10 1610 187.1 1 4.6.1.1 Cell membrane; Cytoplasm; Nucleus; Cell projection; Mitochondrion 0 1 Hypercalciuria absorptive 2 37 1 5 2008-02-05 P18206 VINC_HUMAN VCL Vinculin 1134 123.8 10 Cell membrane; Cell junction; Cytoplasm; Cell projection 0 2 Cardiomyopathy, dilated, 1W; Cardiomyopathy, familial hypertrophic, 15 37 1 5 1990-11-01 P55212 CASP6_HUMAN CASP6 Caspase-6 293 33.3 4 3.4.22.59 Cytoplasm; Nucleus 0 0 37 1 5 1996-10-01 Q07812 BAX_HUMAN BAX Apoptosis regulator BAX 192 21.2 19 Mitochondrion outer membrane; Cytoplasm; Nucleus 1 0 37 1 5 1995-02-01 O75475 PSIP1_HUMAN PSIP1 PC4 and SFRS1-interacting protein 530 60.1 9 Nucleus 0 0 36 1 5 2005-07-05 P0DPB6 RPAC2_HUMAN POLR1D DNA-directed RNA polymerases I and III subunit RPAC2 133 15.2 13 Nucleus 0 1 Treacher Collins syndrome 2 36 1 5 2017-11-22 P54098 DPOG1_HUMAN POLG DNA polymerase subunit gamma-1 1239 139.6 15 2.7.7.7 Mitochondrion; Mitochondrion matrix 0 7 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1; Sensory ataxic neuropathy dysarthria and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4A; Mitochondrial DNA depletion syndrome 4B; Leigh syndrome; Spinocerebellar ataxia with epilepsy 36 1 5 1996-10-01 Q14790 CASP8_HUMAN CASP8 Caspase-8 479 55.4 2 3.4.22.61 Cytoplasm; Nucleus; Cell projection 0 1 Caspase-8 deficiency 36 1 5 1997-11-01 Q99459 CDC5L_HUMAN CDC5L Cell division cycle 5-like protein 802 92.3 6 Nucleus; Nucleus speckle; Cytoplasm 0 0 36 1 5 2005-08-16 Q9Y265 RUVB1_HUMAN RUVBL1 RuvB-like 1 456 50.2 3 3.6.4.12 Nucleus matrix; Nucleus; Cytoplasm; Membrane; Dynein axonemal particle 0 0 36 1 5 2003-02-01 O15392 BIRC5_HUMAN BIRC5 Baculoviral IAP repeat-containing protein 5 142 16.4 17 Cytoplasm; Nucleus; Chromosome; Midbody 0 0 36 1 5 2000-05-30 O43791 SPOP_HUMAN SPOP Speckle-type POZ protein 374 42.1 17 Nucleus; Nucleus speckle; Cytoplasm 0 2 Nabais Sa-de Vries syndrome 1; Nabais Sa-de Vries syndrome 2 36 1 5 2000-05-30 O60216 RAD21_HUMAN RAD21 Double-strand-break repair protein rad21 homolog 631 71.7 8 Nucleus; Nucleus matrix; Chromosome; Cytoplasm 0 2 Cornelia de Lange syndrome 4 with or without midline brain defects; Mungan syndrome 36 1 5 2002-11-15 Q07699 SCN1B_HUMAN SCN1B Sodium channel regulatory subunit beta-1 218 24.7 19 Cell membrane; Perikaryon; Cell projection 1 4 Generalized epilepsy with febrile seizures plus 1; Brugada syndrome 5; Atrial fibrillation, familial, 13; Developmental and epileptic encephalopathy 52 36 1 5 1996-10-01 Q9UNP9 PPIE_HUMAN PPIE Peptidyl-prolyl cis-trans isomerase E 301 33.4 1 5.2.1.8 Nucleus 0 0 36 1 5 2001-02-21 P01130 LDLR_HUMAN LDLR Low-density lipoprotein receptor 860 95.4 19 Cell membrane; Membrane; Golgi apparatus; Early endosome; Late endosome; Lysosome 1 1 Hypercholesterolemia, familial, 1 36 1 5 1986-07-21 P14210 HGF_HUMAN HGF Hepatocyte growth factor 728 83.1 7 0 1 Deafness, autosomal recessive, 39 36 1 5 1990-01-01 P23975 SC6A2_HUMAN SLC6A2 Sodium-dependent noradrenaline transporter 617 69.3 16 Cell membrane; Cell projection; Synapse 12 1 Orthostatic intolerance 36 1 5 1992-03-01 P24863 CCNC_HUMAN CCNC Cyclin-C 283 33.2 6 Nucleus 0 0 36 1 5 1992-03-01 Q9Y3B4 SF3B6_HUMAN SF3B6 Splicing factor 3B subunit 6 125 14.6 2 Nucleus 0 0 36 1 5 2001-01-24 P41223 BUD31_HUMAN BUD31 Protein BUD31 homolog 144 17 7 Nucleus 0 0 36 1 5 1995-02-01 P49336 CDK8_HUMAN CDK8 Cyclin-dependent kinase 8 464 53.3 13 2.7.11.22, 2.7.11.23 Nucleus 0 1 Intellectual developmental disorder with hypotonia and behavioral abnormalities 36 1 5 1996-02-01 P50148 GNAQ_HUMAN GNAQ Guanine nucleotide-binding protein G(q) subunit alpha 359 42.1 9 3.6.5.- Cell membrane; Golgi apparatus; Nucleus; Nucleus membrane 0 2 Capillary malformations, congenital; Sturge-Weber syndrome 36 1 5 1996-10-01 P53396 ACLY_HUMAN ACLY ATP-citrate synthase 1101 120.8 17 2.3.3.8 Cytoplasm 0 0 36 1 5 1996-10-01 Q14160 SCRIB_HUMAN SCRIB Protein scribble homolog 1655 177.7 8 Cell membrane; Cell junction; Cell projection; Cytoplasm; Postsynapse; Presynapse 0 1 Neural tube defects 36 1 5 2004-07-19 Q9Y618 NCOR2_HUMAN NCOR2 Nuclear receptor corepressor 2 2514 273.7 12 Nucleus 0 0 36 1 5 2000-12-01 O15160 RPAC1_HUMAN POLR1C DNA-directed RNA polymerases I and III subunit RPAC1 346 39.3 6 Nucleus; Cytoplasm 0 2 Treacher Collins syndrome 3; Leukodystrophy, hypomyelinating, 11 36 1 5 1998-12-15 Q12791 KCMA1_HUMAN KCNMA1 Calcium-activated potassium channel subunit alpha-1 1236 137.6 10 Cell membrane 7 4 Paroxysmal non-kinesigenic dyskinesia 3 with or without generalized epilepsy; Epilepsy, idiopathic generalized 16; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome 36 1 5 2004-04-13 Q7LBC6 KDM3B_HUMAN KDM3B Lysine-specific demethylase 3B 1761 191.6 5 1.14.11.65 Nucleus 0 1 Diets-Jongmans syndrome 36 1 5 2006-05-16 Q96EP0 RNF31_HUMAN RNF31 E3 ubiquitin-protein ligase RNF31 1072 119.7 14 2.3.2.31 Cytoplasm 0 1 Immunodeficiency 115 with autoinflammation 36 1 5 2004-03-15 O60939 SCN2B_HUMAN SCN2B Sodium channel regulatory subunit beta-2 215 24.3 11 Cell membrane; Cell projection 1 1 Atrial fibrillation, familial, 14 35 1 5 2001-01-11 P17947 SPI1_HUMAN SPI1 Transcription factor PU.1 270 31.1 11 Nucleus 0 1 Agammaglobulinemia 10, autosomal dominant 35 1 5 1990-11-01 P18858 DNLI1_HUMAN LIG1 DNA ligase 1 919 101.7 19 6.5.1.1 Nucleus 0 1 Immunodeficiency 96 35 1 5 1990-11-01 Q8WY64 MYLIP_HUMAN MYLIP E3 ubiquitin-protein ligase MYLIP 445 49.9 6 2.3.2.27 Cytoplasm; Cell membrane 0 0 35 1 5 2004-11-09 Q9UKD2 MRT4_HUMAN MRTO4 mRNA turnover protein 4 homolog 239 27.6 1 Nucleus; Cytoplasm 0 0 35 1 5 2004-08-16 P01854 IGHE_HUMAN IGHE Immunoglobulin heavy constant epsilon 546 59.5 14 Secreted 1 0 35 1 5 1986-07-21 Q13426 XRCC4_HUMAN XRCC4 DNA repair protein XRCC4 336 38.3 5 Nucleus; Chromosome 0 1 Short stature, microcephaly, and endocrine dysfunction 35 1 5 2004-03-01 P01111 RASN_HUMAN NRAS GTPase NRas 189 21.2 1 3.6.5.2 Cell membrane; Golgi apparatus membrane 0 7 Leukemia, juvenile myelomonocytic; Noonan syndrome 6; RAS-associated autoimmune leukoproliferative disorder 1; Melanocytic nevus syndrome, congenital; Melanosis, neurocutaneous; Keratinocytic non-epidermolytic nevus; Thyroid cancer, non-medullary, 2 35 1 5 1986-07-21 P35557 HXK4_HUMAN GCK Hexokinase-4 465 52.2 7 2.7.1.1 Cytoplasm; Nucleus; Mitochondrion 0 4 Maturity-onset diabetes of the young 2; Hyperinsulinemic hypoglycemia, familial, 3; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal, 1 35 1 5 1994-06-01 P47929 LEG7_HUMAN LGALS7 Galectin-7 136 15.1 19 Cytoplasm; Nucleus; Secreted 0 0 35 1 5 1996-02-01 O43660 PLRG1_HUMAN PLRG1 Pleiotropic regulator 1 514 57.2 4 Nucleus; Nucleus speckle 0 0 35 1 5 2003-11-07 P49736 MCM2_HUMAN MCM2 DNA replication licensing factor MCM2 904 101.9 3 3.6.4.12 Nucleus; Chromosome 0 1 Deafness, autosomal dominant, 70 35 1 5 1996-10-01 Q13224 NMDE2_HUMAN GRIN2B Glutamate receptor ionotropic, NMDA 2B 1484 166.4 12 Cell membrane; Postsynaptic cell membrane; Cell projection; Late endosome; Lysosome; Cytoplasm 3 2 Intellectual developmental disorder, autosomal dominant 6, with or without seizures; Developmental and epileptic encephalopathy 27 35 1 5 2001-06-20 Q16778 H2B2E_HUMAN H2BC21 Histone H2B type 2-E 126 13.9 1 Nucleus; Chromosome 0 0 35 1 5 2000-05-30 Q9HD26 GOPC_HUMAN GOPC Golgi-associated PDZ and coiled-coil motif-containing protein 462 50.5 6 Cytoplasm; Golgi apparatus membrane; Golgi apparatus; Synapse; Postsynaptic density; Cell projection 0 0 35 1 5 2005-11-08 Q15750 TAB1_HUMAN TAB1 TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 504 54.6 22 Cytoplasm; Endoplasmic reticulum membrane 0 0 35 1 5 2000-12-01 Q9BRT6 LLPH_HUMAN LLPH Protein LLP homolog 129 15.2 12 Nucleus; Chromosome 0 0 35 1 4 2007-02-06 P49450 CENPA_HUMAN CENPA Histone H3-like centromeric protein A 140 16 2 Nucleus; Chromosome 0 0 34 1 5 1996-02-01 Q08345 DDR1_HUMAN DDR1 Epithelial discoidin domain-containing receptor 1 913 101.1 6 2.7.10.1 Cell membrane 1 0 34 1 5 1995-02-01 Q16514 TAF12_HUMAN TAF12 Transcription initiation factor TFIID subunit 12 161 17.9 1 Nucleus 0 0 34 1 5 1998-07-15 Q8NEB9 PK3C3_HUMAN PIK3C3 Phosphatidylinositol 3-kinase catalytic subunit type 3 887 101.5 18 2.7.1.137 Midbody; Late endosome; Cytoplasmic vesicle 0 0 34 1 5 2005-12-06 Q8NET8 TRPV3_HUMAN TRPV3 Transient receptor potential cation channel subfamily V member 3 790 90.6 17 Cell membrane; Cytoplasm; Lysosome 6 2 Olmsted syndrome 1; Palmoplantar keratoderma, non-epidermolytic, focal 2 34 1 5 2005-04-26 Q9H7B4 SMYD3_HUMAN SMYD3 Histone-lysine N-methyltransferase SMYD3 428 49.1 1 2.1.1.354 Cytoplasm; Nucleus 0 0 34 1 5 2003-05-16 P84077 ARF1_HUMAN ARF1 ADP-ribosylation factor 1 181 20.7 1 3.6.5.2 Golgi apparatus membrane; Synapse; Postsynaptic density 0 1 Periventricular nodular heterotopia 8 34 1 5 2004-08-16 Q96KQ7 EHMT2_HUMAN EHMT2 Histone-lysine N-methyltransferase EHMT2 1210 132.4 6 2.1.1.-, 2.1.1.367 Nucleus; Chromosome 0 0 34 1 5 2002-11-15 P02788 TRFL_HUMAN LTF Lactotransferrin 710 78.2 3 3.4.21.- Secreted; Cytoplasmic granule 0 0 34 1 5 1986-07-21 P07949 RET_HUMAN RET Proto-oncogene tyrosine-protein kinase receptor Ret 1114 124.3 10 2.7.10.1 Cell membrane; Endosome membrane 1 5 Hirschsprung disease 1; Medullary thyroid carcinoma; Multiple neoplasia 2B; Pheochromocytoma; Multiple neoplasia 2A 34 1 5 1988-08-01 P10828 THB_HUMAN THRB Thyroid hormone receptor beta 461 52.8 3 Nucleus 0 3 Thyroid hormone resistance, generalized, autosomal dominant; Thyroid hormone resistance, generalized, autosomal recessive; Selective pituitary thyroid hormone resistance 34 1 5 1989-07-01 P48061 SDF1_HUMAN CXCL12 Stromal cell-derived factor 1 93 10.7 10 Secreted 0 0 34 1 5 1996-02-01 Q9H999 PANK3_HUMAN PANK3 Pantothenate kinase 3 370 41.1 5 2.7.1.33 Cytoplasm 0 0 34 1 5 2003-01-17 P13747 HLAE_HUMAN HLA-E HLA class I histocompatibility antigen, alpha chain E 358 40.1 6 Cell membrane; Golgi apparatus membrane 1 0 34 1 5 1990-01-01 P49327 FAS_HUMAN FASN Fatty acid synthase 2511 273.4 17 2.3.1.85 Cytoplasm; Melanosome 0 0 34 1 5 1996-02-01 P18669 PGAM1_HUMAN PGAM1 Phosphoglycerate mutase 1 254 28.8 10 5.4.2.11, 5.4.2.4 0 0 33 1 5 1990-11-01 Q9BRQ3 NUD22_HUMAN NUDT22 Uridine diphosphate glucose pyrophosphatase NUDT22 303 32.6 11 3.6.1.- 0 0 33 1 5 2006-12-12 O43353 RIPK2_HUMAN RIPK2 Receptor-interacting serine/threonine-protein kinase 2 540 61.2 8 2.7.11.1 Cytoplasm; Cell membrane; Endoplasmic reticulum 0 0 33 1 5 2002-05-02 P08174 DAF_HUMAN CD55 Complement decay-accelerating factor 381 41.4 1 Cell membrane 0 1 Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 33 1 5 1988-08-01 P61073 CXCR4_HUMAN CXCR4 C-X-C chemokine receptor type 4 352 39.7 2 Cell membrane; Cell junction; Early endosome; Late endosome; Lysosome 7 1 WHIM syndrome 1 33 1 5 2004-04-26 P63279 UBC9_HUMAN UBE2I SUMO-conjugating enzyme UBC9 158 18 16 2.3.2.- Nucleus; Cytoplasm 0 0 33 1 5 2004-10-11 Q9P013 CWC15_HUMAN CWC15 Spliceosome-associated protein CWC15 homolog 229 26.6 11 Nucleus 0 0 33 1 5 2007-06-26 P40261 NNMT_HUMAN NNMT Nicotinamide N-methyltransferase 264 29.6 11 2.1.1.1 Cytoplasm 0 0 33 1 5 1995-02-01 P62495 ERF1_HUMAN ETF1 Eukaryotic peptide chain release factor subunit 1 437 49 5 Cytoplasm 0 0 33 1 5 2004-07-19 Q13093 PAFA_HUMAN PLA2G7 Platelet-activating factor acetylhydrolase 441 50.1 6 3.1.1.47 Secreted 0 1 Platelet-activating factor acetylhydrolase deficiency 33 1 5 1997-11-01 Q7KYR7 BT2A1_HUMAN BTN2A1 Butyrophilin subfamily 2 member A1 527 59.6 6 Membrane 1 0 33 1 5 2005-02-01 P07814 SYEP_HUMAN EPRS1 Bifunctional glutamate/proline--tRNA ligase 1512 170.6 1 Cytoplasm; Membrane 0 1 Leukodystrophy, hypomyelinating, 15 33 1 5 1988-08-01 P11021 BIP_HUMAN HSPA5 Endoplasmic reticulum chaperone BiP 654 72.3 9 3.6.4.10 Endoplasmic reticulum lumen; Melanosome; Cytoplasm; Cell surface 0 0 33 1 5 1989-07-01 P22681 CBL_HUMAN CBL E3 ubiquitin-protein ligase CBL 906 99.6 11 2.3.2.27 Cytoplasm; Cell membrane; Cell projection; Golgi apparatus 0 1 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 33 1 5 1991-08-01 P49792 RBP2_HUMAN RANBP2 E3 SUMO-protein ligase RanBP2 3224 358.2 2 2.3.2.- Nucleus; Nucleus membrane; Nucleus envelope 0 1 Encephalopathy, acute, infection-induced, 3 33 1 5 1996-10-01 Q13936 CAC1C_HUMAN CACNA1C Voltage-dependent L-type calcium channel subunit alpha-1C 2221 249 12 Cell membrane; Perikaryon; Postsynaptic density membrane; Cell projection 24 4 Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 33 1 5 1999-07-15 Q96RD7 PANX1_HUMAN PANX1 Pannexin-1 426 48.1 11 Cell membrane; Endoplasmic reticulum membrane 4 1 Oocyte/zygote/embryo maturation arrest 7 33 1 5 2002-01-23 O94906 PRP6_HUMAN PRPF6 Pre-mRNA-processing factor 6 941 106.9 20 Nucleus; Nucleus speckle 0 1 Retinitis pigmentosa 60 33 1 5 2002-10-19 P38398 BRCA1_HUMAN BRCA1 Breast cancer type 1 susceptibility protein 1863 207.7 17 2.3.2.27 Nucleus; Chromosome; Cytoplasm 0 5 Breast cancer; Breast-ovarian cancer, familial, 1; Ovarian cancer; Pancreatic cancer 4; Fanconi anemia, complementation group S 33 1 5 1994-10-01 Q6NXT2 H3C_HUMAN H3-5 Histone H3.3C 135 15.2 12 Nucleus; Chromosome 0 0 33 1 5 2006-10-17 Q8IU60 DCP2_HUMAN DCP2 m7GpppN-mRNA hydrolase 420 48.4 5 3.6.1.62 Cytoplasm; Nucleus 0 0 33 1 5 2005-03-01 Q9NV96 CC50A_HUMAN CDC50A Cell cycle control protein 50A 361 40.7 6 Membrane; Cell membrane; Golgi apparatus; Cytoplasmic vesicle; Apical cell membrane 2 0 33 1 5 2006-06-27 P83876 TXN4A_HUMAN TXNL4A Thioredoxin-like protein 4A 142 16.8 18 Nucleus 0 1 Burn-McKeown syndrome 32 1 5 2004-04-26 Q13573 SNW1_HUMAN SNW1 SNW domain-containing protein 1 536 61.5 14 Nucleus 0 0 32 1 5 1997-11-01 O14775 GNB5_HUMAN GNB5 Guanine nucleotide-binding protein subunit beta-5 395 43.6 15 Membrane 0 2 Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia; Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia 32 1 5 1998-07-15 P05198 IF2A_HUMAN EIF2S1 Eukaryotic translation initiation factor 2 subunit 1 315 36.1 14 Cytoplasm; Mitochondrion 0 0 32 1 5 1987-08-13 Q8WTS6 SETD7_HUMAN SETD7 Histone-lysine N-methyltransferase SETD7 366 40.7 4 2.1.1.364 Nucleus; Chromosome 0 0 32 1 5 2002-11-15 Q9BUI4 RPC3_HUMAN POLR3C DNA-directed RNA polymerase III subunit RPC3 534 60.6 1 Nucleus 0 0 32 1 5 2004-07-05 P05019 IGF1_HUMAN IGF1 Insulin-like growth factor 1 195 21.8 12 Secreted 0 1 Insulin-like growth factor I deficiency 32 1 5 1987-08-13 P08238 HS90B_HUMAN HSP90AB1 Heat shock protein HSP 90-beta 724 83.3 6 Cytoplasm; Melanosome; Nucleus; Secreted; Cell membrane; Dynein axonemal particle; Cell surface 0 0 32 1 5 1988-08-01 P55769 NH2L1_HUMAN SNU13 NHP2-like protein 1 128 14.2 22 Nucleus 0 0 32 1 5 1997-11-01 P63272 SPT4H_HUMAN SUPT4H1 Transcription elongation factor SPT4 117 13.2 17 Nucleus 0 0 32 1 5 2004-10-11 Q05940 VMAT2_HUMAN SLC18A2 Synaptic vesicular amine transporter 514 55.7 10 Cytoplasmic vesicle; Cell projection 12 1 Parkinsonism-dystonia 2, infantile-onset 32 1 5 1994-10-01 Q15691 MARE1_HUMAN MAPRE1 Microtubule-associated protein RP/EB family member 1 268 30 20 Cytoplasm; Golgi apparatus; Cell membrane 0 0 32 1 5 2002-01-23 P23258 TBG1_HUMAN TUBG1 Tubulin gamma-1 chain 451 51.2 17 Cytoplasm 0 1 Cortical dysplasia, complex, with other brain malformations 4 32 1 5 1991-11-01 P49407 ARRB1_HUMAN ARRB1 Beta-arrestin-1 418 47.1 11 Cytoplasm; Nucleus; Cell membrane; Membrane; Cell projection; Cytoplasmic vesicle 0 0 32 1 5 1996-02-01 Q15109 RAGE_HUMAN AGER Advanced glycation end product-specific receptor 404 42.8 6 Cell membrane; Cell projection; Early endosome; Nucleus 1 0 32 1 5 1997-11-01 P21554 CNR1_HUMAN CNR1 Cannabinoid receptor 1 472 52.9 6 Cell membrane; Membrane raft; Mitochondrion outer membrane; Cell projection; Presynapse 7 1 Obesity 32 1 5 1991-05-01 P37268 FDFT_HUMAN FDFT1 Squalene synthase 417 48.1 8 2.5.1.21 Endoplasmic reticulum membrane 2 1 Squalene synthase deficiency 32 1 5 1994-10-01 P49848 TAF6_HUMAN TAF6 Transcription initiation factor TFIID subunit 6 677 72.7 7 Nucleus 0 1 Alazami-Yuan syndrome 32 1 5 1996-10-01 Q13464 ROCK1_HUMAN ROCK1 Rho-associated protein kinase 1 1354 158.2 18 2.7.11.39 Cytoplasm; Golgi apparatus membrane; Cell projection; Cell membrane 0 0 32 1 5 2004-05-24 Q14680 MELK_HUMAN MELK Maternal embryonic leucine zipper kinase 651 74.6 9 2.7.11.1 Cell membrane 0 0 32 1 5 2004-07-19 Q9NW64 RBM22_HUMAN RBM22 Pre-mRNA-splicing factor RBM22 420 46.9 5 Nucleus; Cytoplasm 0 0 32 1 5 2006-10-03 O00268 TAF4_HUMAN TAF4 Transcription initiation factor TFIID subunit 4 1085 110.1 20 Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 73 31 1 5 1998-07-15 P21728 DRD1_HUMAN DRD1 Dopamine receptor D1 446 49.3 5 Postsynaptic cell membrane; Cell projection; Endoplasmic reticulum membrane 7 0 31 1 5 1991-05-01 P47870 GBRB2_HUMAN GABRB2 Gamma-aminobutyric acid receptor subunit beta-2 512 59.2 5 Postsynaptic cell membrane; Cell membrane; Cytoplasmic vesicle membrane 4 1 Epileptic encephalopathy, infantile or early childhood, 2 31 1 5 1996-02-01 P49137 MAPK2_HUMAN MAPKAPK2 MAP kinase-activated protein kinase 2 400 45.6 1 2.7.11.1 Cytoplasm; Nucleus 0 0 31 1 5 1996-02-01 P51531 SMCA2_HUMAN SMARCA2 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 1590 181.3 9 3.6.4.- Nucleus 0 3 Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome; Schizophrenia 31 1 5 1996-10-01 Q14416 GRM2_HUMAN GRM2 Metabotropic glutamate receptor 2 872 95.6 3 Cell membrane; Synapse; Cell projection 7 0 31 1 5 1997-11-01 Q16594 TAF9_HUMAN TAF9 Transcription initiation factor TFIID subunit 9 264 29 5 Nucleus 0 0 31 1 5 1997-11-01 Q9UK73 FEM1B_HUMAN FEM1B Protein fem-1 homolog B 627 70.3 15 Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities 31 1 5 2008-03-18 O15393 TMPS2_HUMAN TMPRSS2 Transmembrane protease serine 2 492 53.9 21 3.4.21.122 Cell membrane 1 0 31 1 5 1998-07-15 P04234 CD3D_HUMAN CD3D T-cell surface glycoprotein CD3 delta chain 171 18.9 11 Cell membrane 1 1 Immunodeficiency 19, severe combined 31 1 5 1987-03-20 P10809 CH60_HUMAN HSPD1 60 kDa heat shock protein, mitochondrial 573 61.1 2 5.6.1.7 Mitochondrion matrix 0 2 Spastic paraplegia 13, autosomal dominant; Leukodystrophy, hypomyelinating, 4 31 1 5 1989-07-01 P35247 SFTPD_HUMAN SFTPD Pulmonary surfactant-associated protein D 375 37.7 10 Secreted 0 0 31 1 5 1994-02-01 P41180 CASR_HUMAN CASR Extracellular calcium-sensing receptor 1078 120.7 3 Cell membrane 7 4 Hypocalciuric hypercalcemia, familial 1; Hyperparathyroidism, neonatal severe; Hypocalcemia, autosomal dominant 1; Epilepsy, idiopathic generalized 8 31 1 5 1995-02-01 P78536 ADA17_HUMAN ADAM17 Disintegrin and metalloproteinase domain-containing protein 17 824 93 2 3.4.24.86 Cell membrane 1 2 Hypotrichosis 16; Inflammatory skin and bowel disease, neonatal, 1 31 1 5 2001-06-20 Q92905 CSN5_HUMAN COPS5 COP9 signalosome complex subunit 5 334 37.6 8 3.4.-.- Cytoplasm; Nucleus; Cytoplasmic vesicle 0 0 31 1 5 2004-11-23 Q9UQ80 PA2G4_HUMAN PA2G4 Proliferation-associated protein 2G4 394 43.8 12 Cytoplasm; Nucleus 0 0 31 1 5 2001-04-27 P02647 APOA1_HUMAN APOA1 Apolipoprotein A-I 267 30.8 11 Secreted 0 4 Hypoalphalipoproteinemia, primary, 2; Hypoalphalipoproteinemia, primary, 2, intermediate; Familial apolipoprotein gene cluster deletion syndrome; Amyloidosis, hereditary systemic 3 31 1 5 1986-07-21 P49917 DNLI4_HUMAN LIG4 DNA ligase 4 911 104 13 6.5.1.1 Nucleus 0 2 LIG4 syndrome; Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation 31 1 5 1996-10-01 Q86X55 CARM1_HUMAN CARM1 Histone-arginine methyltransferase CARM1 608 65.9 19 2.1.1.319 Nucleus; Cytoplasm; Chromosome 0 0 31 1 5 2005-01-04 Q8IVV7 GID4_HUMAN GID4 Glucose-induced degradation protein 4 homolog 300 33.5 17 0 0 31 1 5 2005-08-16 Q9BPX1 DHB14_HUMAN HSD17B14 L-fucose dehydrogenase 270 28.3 19 1.1.1.122 Cytoplasm 0 0 31 1 5 2005-10-11 O75417 DPOLQ_HUMAN POLQ DNA polymerase theta 2590 289.6 3 Nucleus; Chromosome 0 1 Breast cancer 31 1 5 2000-05-30 P25054 APC_HUMAN APC Adenomatous polyposis coli protein 2843 311.6 5 Cell junction; Cytoplasm; Cell projection; Cell membrane 0 6 Familial adenomatous polyposis 1; Desmoid disease, hereditary; Medulloblastoma; Gastric cancer; Hepatocellular carcinoma; Gastric adenocarcinoma and proximal polyposis of the stomach 31 1 5 1992-05-01 Q13563 PKD2_HUMAN PKD2 Polycystin-2 968 109.7 4 Cell projection; Endoplasmic reticulum membrane; Cell membrane; Basolateral cell membrane; Cytoplasmic vesicle membrane; Golgi apparatus; Vesicle; Secreted 6 1 Polycystic kidney disease 2 with or without polycystic liver disease 31 1 5 1999-07-15 Q15542 TAF5_HUMAN TAF5 Transcription initiation factor TFIID subunit 5 800 86.8 10 Nucleus 0 0 31 1 5 1998-07-15 Q9BZJ0 CRNL1_HUMAN CRNKL1 Crooked neck-like protein 1 848 100.5 20 Nucleus; Nucleus speckle 0 1 Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia 31 1 5 2003-02-01 Q9H1D9 RPC6_HUMAN POLR3F DNA-directed RNA polymerase III subunit RPC6 316 35.7 20 Nucleus 0 1 Immunodeficiency 101, varicella zoster virus-specific 31 1 5 2002-03-27 P01871 IGHM_HUMAN IGHM Immunoglobulin heavy constant mu 474 51.9 14 Secreted 1 1 Agammaglobulinemia 1, autosomal recessive 31 1 5 1986-07-21 P06280 AGAL_HUMAN GLA Alpha-galactosidase A 429 48.8 X 3.2.1.22 Lysosome 0 1 Fabry disease 31 1 5 1988-01-01 P11215 ITAM_HUMAN ITGAM Integrin alpha-M 1152 127.2 16 Cell membrane; Membrane raft 1 1 Systemic lupus erythematosus 6 31 1 5 1989-07-01 P42858 HD_HUMAN HTT Huntingtin 3142 347.6 4 Cytoplasm; Nucleus; Early endosome 0 2 Huntington disease; Lopes-Maciel-Rodan syndrome 31 1 5 1995-11-01 Q7Z7C8 TAF8_HUMAN TAF8 Transcription initiation factor TFIID subunit 8 310 34.3 6 Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 31 1 5 2008-01-15 Q9NVU0 RPC5_HUMAN POLR3E DNA-directed RNA polymerase III subunit RPC5 708 79.9 16 Nucleus 0 0 31 1 5 2003-03-28 O43395 PRPF3_HUMAN PRPF3 U4/U6 small nuclear ribonucleoprotein Prp3 683 77.5 1 Nucleus; Nucleus speckle 0 1 Retinitis pigmentosa 18 30 1 5 2003-09-26 P31645 SC6A4_HUMAN SLC6A4 Sodium-dependent serotonin transporter 630 70.3 17 Cell membrane; Endomembrane system; Endosome membrane; Synapse; Cell junction; Cell projection 12 0 30 1 5 1993-07-01 P41145 OPRK_HUMAN OPRK1 Kappa-type opioid receptor 380 42.6 8 Cell membrane 7 0 30 1 5 1995-02-01 P54289 CA2D1_HUMAN CACNA2D1 Voltage-dependent calcium channel subunit alpha-2/delta-1 1103 124.6 7 Membrane; Cell membrane 1 1 Developmental and epileptic encephalopathy 110 30 1 5 1996-10-01 Q86U86 PB1_HUMAN PBRM1 Protein polybromo-1 1689 192.9 3 Nucleus 0 1 Renal cell carcinoma 30 1 5 2005-08-30 O60760 HPGDS_HUMAN HPGDS Hematopoietic prostaglandin D synthase 199 23.3 4 5.3.99.2 Cytoplasm 0 0 30 1 5 2000-05-30 P43246 MSH2_HUMAN MSH2 DNA mismatch repair protein Msh2 934 104.7 2 Nucleus; Chromosome 0 5 Lynch syndrome 1; Muir-Torre syndrome; Endometrial cancer; Mismatch repair cancer syndrome 2; Colorectal cancer 30 1 5 1995-11-01 P08235 MCR_HUMAN NR3C2 Mineralocorticoid receptor 984 107.1 4 Cytoplasm; Nucleus; Endoplasmic reticulum membrane 0 2 Pseudohypoaldosteronism 1, autosomal dominant; Early-onset hypertension with severe exacerbation in pregnancy 30 1 5 1988-08-01 P62491 RB11A_HUMAN RAB11A Ras-related protein Rab-11A 216 24.4 15 3.6.5.2 Cell membrane; Endosome membrane; Recycling endosome membrane; Cleavage furrow; Cytoplasmic vesicle; Golgi apparatus membrane; Golgi apparatus; Cytoplasmic vesicle membrane; Cell projection 0 0 30 1 5 2004-07-19 Q16790 CAH9_HUMAN CA9 Carbonic anhydrase 9 459 49.7 9 4.2.1.1 Nucleus; Cell membrane; Cell projection 1 0 30 1 5 1999-07-15 Q5VWG9 TAF3_HUMAN TAF3 Transcription initiation factor TFIID subunit 3 929 103.6 10 Nucleus 0 0 30 1 5 2006-07-11 Q8WWY3 PRP31_HUMAN PRPF31 U4/U6 small nuclear ribonucleoprotein Prp31 499 55.5 19 Nucleus; Nucleus speckle 0 1 Retinitis pigmentosa 11 30 1 5 2006-03-21 Q92542 NICA_HUMAN NCSTN Nicastrin 709 78.4 1 Membrane; Cytoplasmic vesicle membrane; Melanosome 1 1 Acne inversa, familial, 1 30 1 5 1998-07-15 P00558 PGK1_HUMAN PGK1 Phosphoglycerate kinase 1 417 44.6 X 2.7.11.1, 2.7.2.3 Cytoplasm; Mitochondrion matrix 0 1 Phosphoglycerate kinase 1 deficiency 30 1 5 1986-07-21 P02689 MYP2_HUMAN PMP2 Myelin P2 protein 132 14.9 8 Cytoplasm 0 1 Charcot-Marie-Tooth disease, demyelinating, type 1G 30 1 5 1986-07-21 P51955 NEK2_HUMAN NEK2 Serine/threonine-protein kinase Nek2 445 51.8 1 2.7.11.1 Nucleus; Cytoplasm; Chromosome 0 1 Retinitis pigmentosa 67 30 1 5 1996-10-01 Q9UGN5 PARP2_HUMAN PARP2 Poly [ADP-ribose] polymerase 2 583 66.2 14 2.4.2.30 Nucleus; Chromosome 0 0 30 1 5 2001-09-26 O15382 BCAT2_HUMAN BCAT2 Branched-chain-amino-acid aminotransferase, mitochondrial 392 44.3 19 2.6.1.42 Mitochondrion 0 1 Hypervalinemia and hyperleucine-isoleucinemia 30 1 5 1998-07-15 P01591 IGJ_HUMAN JCHAIN Immunoglobulin J chain 159 18.1 4 Secreted 0 0 30 1 5 1986-07-21 P30988 CALCR_HUMAN CALCR Calcitonin receptor 474 55.3 7 Cell membrane 7 0 30 1 5 1993-07-01 P55899 FCGRN_HUMAN FCGRT IgG receptor FcRn large subunit p51 365 39.7 19 Cell membrane; Endosome membrane 1 0 30 1 5 1997-11-01 Q15022 SUZ12_HUMAN SUZ12 Polycomb protein SUZ12 739 83.1 17 Nucleus 0 1 Imagawa-Matsumoto syndrome 30 1 5 2003-07-11 Q96RT7 GCP6_HUMAN TUBGCP6 Gamma-tubulin complex component 6 1819 200.5 22 Cytoplasm 0 1 Microcephaly and chorioretinopathy, autosomal recessive, 1 30 1 5 2002-05-02 Q99685 MGLL_HUMAN MGLL Monoglyceride lipase 303 33.3 3 3.1.1.23 Cytoplasm; Membrane 0 0 30 1 5 2004-05-10 O94762 RECQ5_HUMAN RECQL5 ATP-dependent DNA helicase Q5 991 108.9 17 5.6.2.4 Nucleus 0 0 29 1 5 2000-05-30 P02649 APOE_HUMAN APOE Apolipoprotein E 317 36.2 19 Secreted; Extracellular vesicle; Endosome 0 4 Hyperlipoproteinemia 3; Alzheimer disease 2; Sea-blue histiocyte disease; Lipoprotein glomerulopathy 29 1 5 1986-07-21 P14649 MYL6B_HUMAN MYL6B Myosin light chain 6B 208 22.8 12 0 0 29 1 5 1990-04-01 P36776 LONM_HUMAN LONP1 Lon protease homolog, mitochondrial 959 106.5 19 3.4.21.53 Mitochondrion matrix 0 1 CODAS syndrome 29 1 5 1994-06-01 P60174 TPIS_HUMAN TPI1 Triosephosphate isomerase 249 26.7 12 5.3.1.1 Cytoplasm 0 1 Triosephosphate isomerase deficiency 29 1 5 1986-07-21 Q9UJW3 DNM3L_HUMAN DNMT3L DNA (cytosine-5)-methyltransferase 3-like 386 43.6 21 Nucleus 0 0 29 1 5 2001-09-26 Q9Y2Y1 RPC10_HUMAN POLR3K DNA-directed RNA polymerase III subunit RPC10 108 12.3 16 Nucleus 0 1 Leukodystrophy, hypomyelinating, 21 29 1 5 2001-09-26 Q9Y5A9 YTHD2_HUMAN YTHDF2 YTH domain-containing family protein 2 579 62.3 1 Cytoplasm; Nucleus 0 0 29 1 5 2003-02-12 L0R8F8 MIDUO_HUMAN MIEF1 Mitochondrial ribosome and complex I assembly factor AltMIEF1 70 8.4 22 Mitochondrion matrix 0 0 29 1 5 2017-03-15 P05423 RPC4_HUMAN POLR3D DNA-directed RNA polymerase III subunit RPC4 398 44.4 8 Nucleus 0 0 29 1 5 1988-11-01 P08908 5HT1A_HUMAN HTR1A 5-hydroxytryptamine receptor 1A 422 46.1 5 Cell membrane; Cell projection 7 1 Periodic fever, menstrual cycle-dependent 29 1 5 1988-11-01 Q15436 SC23A_HUMAN SEC23A Protein transport protein Sec23A 765 86.2 14 Cytoplasmic vesicle; Endoplasmic reticulum membrane; Cytoplasm 0 1 Craniolenticulosutural dysplasia 29 1 5 1997-11-01 P14780 MMP9_HUMAN MMP9 Matrix metalloproteinase-9 707 78.5 20 3.4.24.35 Secreted 0 2 Intervertebral disc disease; Metaphyseal anadysplasia 2 29 1 5 1990-04-01 P33176 KINH_HUMAN KIF5B Kinesin-1 heavy chain 963 109.7 10 Cytoplasm; Cytolytic granule membrane; Lysosome membrane 0 0 29 1 5 1993-10-01 Q16740 CLPP_HUMAN CLPP ATP-dependent Clp protease proteolytic subunit, mitochondrial 277 30.2 19 3.4.21.92 Mitochondrion matrix 0 1 Perrault syndrome 3 29 1 5 1998-07-15 Q9BT78 CSN4_HUMAN COPS4 COP9 signalosome complex subunit 4 406 46.3 4 Cytoplasm; Nucleus; Cytoplasmic vesicle 0 0 29 1 5 2004-11-23 Q9BW61 DDA1_HUMAN DDA1 DET1- and DDB1-associated protein 1 102 11.8 19 0 0 29 1 5 2007-11-13 Q9NW08 RPC2_HUMAN POLR3B DNA-directed RNA polymerase III subunit RPC2 1133 127.8 12 2.7.7.6 Nucleus; Cytoplasm 0 2 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, type 1I 29 1 5 2003-03-28 Q9UNQ0 ABCG2_HUMAN ABCG2 Broad substrate specificity ATP-binding cassette transporter ABCG2 655 72.3 4 7.6.2.-, 7.6.2.2 Cell membrane; Apical cell membrane; Mitochondrion membrane 6 0 29 1 5 2001-01-24 Q9Y535 RPC8_HUMAN POLR3H DNA-directed RNA polymerase III subunit RPC8 204 22.9 22 Nucleus 0 0 29 1 5 2003-03-28 O14802 RPC1_HUMAN POLR3A DNA-directed RNA polymerase III subunit RPC1 1390 155.6 10 2.7.7.6 Nucleus; Cytoplasm 0 2 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Wiedemann-Rautenstrauch syndrome 29 1 5 1998-07-15 O60563 CCNT1_HUMAN CCNT1 Cyclin-T1 726 80.7 12 Nucleus 0 0 29 1 5 2000-12-01 O75531 BAF_HUMAN BANF1 Barrier-to-autointegration factor 89 10.1 11 Nucleus; Chromosome; Nucleus envelope; Cytoplasm 0 1 Nestor-Guillermo progeria syndrome 29 1 5 1999-07-15 P05107 ITB2_HUMAN ITGB2 Integrin beta-2 769 84.8 21 Cell membrane; Membrane raft 1 1 Leukocyte adhesion deficiency 1 29 1 5 1987-08-13 P05112 IL4_HUMAN IL4 Interleukin-4 153 17.5 5 Secreted 0 1 Ischemic stroke 29 1 5 1987-08-13 P05121 PAI1_HUMAN SERPINE1 Plasminogen activator inhibitor 1 402 45.1 7 Secreted 0 1 Plasminogen activator inhibitor-1 deficiency 29 1 5 1987-08-13 Q13618 CUL3_HUMAN CUL3 Cullin-3 768 88.9 2 Nucleus; Golgi apparatus; Cell projection; Cytoplasm 0 2 Pseudohypoaldosteronism 2E; Neurodevelopmental disorder with or without autism or seizures 29 1 5 1997-11-01 Q7L5N1 CSN6_HUMAN COPS6 COP9 signalosome complex subunit 6 327 36.2 7 Nucleus; Cytoplasm 0 0 29 1 5 2004-11-23 Q99933 BAG1_HUMAN BAG1 BAG family molecular chaperone regulator 1 345 38.8 9 Nucleus; Cytoplasm 0 0 29 1 5 1997-11-01 Q9NUM4 T106B_HUMAN TMEM106B Transmembrane protein 106B 274 31.1 7 Late endosome membrane; Lysosome membrane; Cell membrane 1 3 Frontotemporal dementia 2; Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Leukodystrophy, hypomyelinating, 16 29 1 5 2006-06-27 O75575 RPC9_HUMAN CRCP DNA-directed RNA polymerase III subunit RPC9 148 16.9 7 Nucleus; Cell membrane 0 0 29 1 5 2002-05-10 P05091 ALDH2_HUMAN ALDH2 Aldehyde dehydrogenase, mitochondrial 517 56.4 12 1.2.1.19, 1.2.1.24, 1.2.1.3, 1.2.1.36, 1.2.1.46 Mitochondrion 0 1 AMED syndrome, digenic 29 1 5 1987-08-13 P11940 PABP1_HUMAN PABPC1 Polyadenylate-binding protein 1 636 70.7 8 Cytoplasm; Nucleus; Cell projection 0 0 29 1 5 1989-10-01 P46531 NOTC1_HUMAN NOTCH1 Neurogenic locus notch homolog protein 1 2555 272.5 9 Cell membrane; Late endosome membrane 1 2 Aortic valve disease 1; Adams-Oliver syndrome 5 29 1 5 1995-11-01 P61201 CSN2_HUMAN COPS2 COP9 signalosome complex subunit 2 443 51.6 15 Cytoplasm; Nucleus 0 0 29 1 5 2004-05-10 Q13409 DC1I2_HUMAN DYNC1I2 Cytoplasmic dynein 1 intermediate chain 2 638 71.5 2 Cytoplasm 0 1 Neurodevelopmental disorder with microcephaly and structural brain anomalies 29 1 5 1997-11-01 Q13490 BIRC2_HUMAN BIRC2 Baculoviral IAP repeat-containing protein 2 618 69.9 11 2.3.2.27 Cytoplasm; Nucleus 0 0 29 1 5 1997-11-01 Q96EH3 MASU1_HUMAN MALSU1 Mitochondrial assembly of ribosomal large subunit protein 1 234 26.2 7 Mitochondrion matrix 0 0 29 1 5 2006-03-21 Q9UBQ5 EIF3K_HUMAN EIF3K Eukaryotic translation initiation factor 3 subunit K 218 25.1 19 Nucleus; Cytoplasm 0 0 29 1 5 2002-09-19 O15318 RPC7_HUMAN POLR3G DNA-directed RNA polymerase III subunit RPC7 223 25.9 5 Nucleus; Cytoplasm 0 0 28 1 5 2005-02-01 O60502 OGA_HUMAN OGA Protein O-GlcNAcase 916 102.9 10 3.2.1.169 Nucleus 0 0 28 1 5 2006-10-03 P01909 DQA1_HUMAN HLA-DQA1 HLA class II histocompatibility antigen, DQ alpha 1 chain 254 27.8 6 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endosome membrane; Lysosome membrane 1 0 28 1 5 1986-07-21 P51532 SMCA4_HUMAN SMARCA4 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4 1647 184.6 19 3.6.4.- Nucleus 0 3 Rhabdoid tumor predisposition syndrome 2; Coffin-Siris syndrome 4; Otosclerosis 12 28 1 5 1996-10-01 Q13509 TBB3_HUMAN TUBB3 Tubulin beta-3 chain 450 50.4 16 Cytoplasm; Cell projection 0 2 Fibrosis of extraocular muscles, congenital, 3A; Cortical dysplasia, complex, with other brain malformations 1 28 1 5 1998-07-15 Q14152 EIF3A_HUMAN EIF3A Eukaryotic translation initiation factor 3 subunit A 1382 166.6 10 Cytoplasm 0 0 28 1 5 2000-05-30 Q15543 TAF13_HUMAN TAF13 Transcription initiation factor TFIID subunit 13 124 14.3 1 Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 60 28 1 5 1998-07-15 Q9BSJ2 GCP2_HUMAN TUBGCP2 Gamma-tubulin complex component 2 902 102.5 10 Cytoplasm 0 1 Cortical dysplasia, complex, with other brain malformations 15 28 1 5 2002-06-06 Q9GZS3 SKI8_HUMAN SKIC8 Superkiller complex protein 8 305 33.6 15 Nucleus; Cytoplasm 0 0 28 1 5 2006-07-11 Q9UNS2 CSN3_HUMAN COPS3 COP9 signalosome complex subunit 3 423 47.9 17 Cytoplasm; Nucleus; Cell junction 0 0 28 1 5 2004-11-23 O00482 NR5A2_HUMAN NR5A2 Nuclear receptor subfamily 5 group A member 2 541 61.3 1 Nucleus; Chromosome 0 0 28 1 5 1998-07-15 P14061 DHB1_HUMAN HSD17B1 17-beta-hydroxysteroid dehydrogenase type 1 328 35 17 1.1.1.51 Cytoplasm 0 0 28 1 5 1990-01-01 P39748 FEN1_HUMAN FEN1 Flap endonuclease 1 380 42.6 11 3.1.-.- Nucleus 0 0 28 1 5 1995-02-01 Q15545 TAF7_HUMAN TAF7 Transcription initiation factor TFIID subunit 7 349 40.3 5 Nucleus 0 0 28 1 5 1998-07-15 Q9UGJ1 GCP4_HUMAN TUBGCP4 Gamma-tubulin complex component 4 667 76.1 15 Cytoplasm 0 1 Microcephaly and chorioretinopathy, autosomal recessive, 3 28 1 5 2002-08-02 Q9UM07 PADI4_HUMAN PADI4 Protein-arginine deiminase type-4 663 74.1 1 3.5.3.15 Cytoplasm; Nucleus; Cytoplasmic granule 0 1 Rheumatoid arthritis 28 1 5 2001-01-11 Q9Y3C6 PPIL1_HUMAN PPIL1 Peptidyl-prolyl cis-trans isomerase-like 1 166 18.2 6 5.2.1.8 Nucleus 0 1 Pontocerebellar hypoplasia 14 28 1 5 2002-04-16 P29016 CD1B_HUMAN CD1B T-cell surface glycoprotein CD1b 333 36.9 1 Cell membrane; Endosome membrane; Lysosome membrane 1 0 28 1 5 1992-12-01 P47813 IF1AX_HUMAN EIF1AX Eukaryotic translation initiation factor 1A, X-chromosomal 144 16.5 X Cytoplasm 0 0 28 1 5 1996-02-01 P50750 CDK9_HUMAN CDK9 Cyclin-dependent kinase 9 372 42.8 9 2.7.11.22, 2.7.11.23 Nucleus; Cytoplasm 0 0 28 1 5 1996-10-01 P60228 EIF3E_HUMAN EIF3E Eukaryotic translation initiation factor 3 subunit E 445 52.2 8 Cytoplasm; Nucleus 0 0 28 1 5 2004-01-16 Q13098 CSN1_HUMAN GPS1 COP9 signalosome complex subunit 1 491 55.5 17 Cytoplasm; Nucleus 0 0 28 1 5 1997-11-01 Q16658 FSCN1_HUMAN FSCN1 Fascin 493 54.5 7 Cytoplasm; Cell projection; Cell junction 0 0 28 1 5 1997-11-01 O15350 P73_HUMAN TP73 Tumor protein p73 636 69.6 1 Nucleus; Cytoplasm 0 1 Ciliary dyskinesia, primary, 47, and lissencephaly 28 1 5 2000-12-01 P0C0S5 H2AZ_HUMAN H2AZ1 Histone H2A.Z 128 13.6 4 Nucleus; Chromosome 0 0 28 1 5 2005-12-06 P16104 H2AX_HUMAN H2AX Histone H2AX 143 15.1 11 Nucleus; Chromosome 0 0 28 1 5 1990-04-01 P17707 DCAM_HUMAN AMD1 S-adenosylmethionine decarboxylase proenzyme 334 38.3 6 4.1.1.50 0 0 28 1 5 1990-08-01 P29320 EPHA3_HUMAN EPHA3 Ephrin type-A receptor 3 983 110.1 3 2.7.10.1 Cell membrane 1 1 Colorectal cancer 28 1 5 1992-12-01 P38435 VKGC_HUMAN GGCX Vitamin K-dependent gamma-carboxylase 758 87.6 2 4.1.1.90 Endoplasmic reticulum membrane 9 2 Combined deficiency of vitamin K-dependent clotting factors 1; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 28 1 5 1994-10-01 P51787 KCNQ1_HUMAN KCNQ1 Potassium voltage-gated channel subfamily KQT member 1 676 74.7 11 Cell membrane; Cytoplasmic vesicle membrane; Early endosome; Membrane raft; Endoplasmic reticulum; Basolateral cell membrane; Apical cell membrane 6 5 Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Atrial fibrillation, familial, 3; Short QT syndrome 2; Type 2 diabetes mellitus 28 1 5 1996-10-01 Q15544 TAF11_HUMAN TAF11 Transcription initiation factor TFIID subunit 11 211 23.3 6 Nucleus 0 0 28 1 5 1998-07-15 Q96RT8 GCP5_HUMAN TUBGCP5 Gamma-tubulin complex component 5 1024 118.3 15 Cytoplasm 0 0 28 1 5 2002-05-02 Q9C0B1 FTO_HUMAN FTO Alpha-ketoglutarate-dependent dioxygenase FTO 505 58.3 16 Nucleus; Nucleus speckle; Cytoplasm 0 2 Growth retardation, developmental delay, and facial dysmorphism; Obesity 28 1 5 2007-05-01 P02545 LMNA_HUMAN LMNA Prelamin-A/C 664 74.1 1 Nucleus lamina; Nucleus envelope; Nucleus; Nucleus matrix 0 11 Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; Cardiomyopathy, dilated, 1A; Lipodystrophy, familial partial, 2; Charcot-Marie-Tooth disease, axonal, type 2B1; Hutchinson-Gilford progeria syndrome; Cardiomyopathy, dilated, with hypergonadotropic hypogonadism; Mandibuloacral dysplasia with type A lipodystrophy; Restrictive dermopathy 2; Heart-hand syndrome Slovenian type; Muscular dystrophy congenital LMNA-related 28 1 5 1986-07-21 P15559 NQO1_HUMAN NQO1 NAD(P)H dehydrogenase [quinone] 1 274 30.9 16 1.6.5.2 Cytoplasm 0 0 28 1 5 1990-04-01 Q6P1X5 TAF2_HUMAN TAF2 Transcription initiation factor TFIID subunit 2 1199 137 8 Nucleus 0 1 Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity 28 1 5 2006-10-17 Q7L2H7 EIF3M_HUMAN EIF3M Eukaryotic translation initiation factor 3 subunit M 374 42.5 11 Cytoplasm 0 0 28 1 5 2007-10-23 Q96S37 S22AC_HUMAN SLC22A12 Solute carrier family 22 member 12 553 59.6 11 Apical cell membrane 12 1 Hypouricemia renal 1 28 1 5 2007-10-23 Q99627 CSN8_HUMAN COPS8 COP9 signalosome complex subunit 8 209 23.2 2 Cytoplasm; Nucleus 0 0 28 1 5 2004-11-23 Q9Y262 EIF3L_HUMAN EIF3L Eukaryotic translation initiation factor 3 subunit L 564 66.7 22 Cytoplasm 0 0 28 1 5 2002-09-19 O95478 NSA2_HUMAN NSA2 Ribosome biogenesis protein NSA2 homolog 260 30.1 5 Nucleus 0 0 28 1 4 2003-09-19 P0DOY2 IGLC2_HUMAN IGLC2 Immunoglobulin lambda constant 2 106 11.3 22 Secreted; Cell membrane 0 0 28 1 4 2017-03-15 O75376 NCOR1_HUMAN NCOR1 Nuclear receptor corepressor 1 2440 270.2 17 Nucleus 0 0 27 1 5 2000-12-01 P10153 RNAS2_HUMAN RNASE2 Non-secretory ribonuclease 161 18.4 14 4.6.1.18 Lysosome; Cytoplasmic granule 0 0 27 1 5 1989-07-01 P34897 GLYM_HUMAN SHMT2 Serine hydroxymethyltransferase, mitochondrial 504 56 12 2.1.2.1 Mitochondrion; Mitochondrion matrix; Mitochondrion inner membrane; Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 27 1 5 1994-02-01 P47871 GLR_HUMAN GCGR Glucagon receptor 477 54 17 Cell membrane 7 1 Mahvash disease 27 1 5 1996-02-01 P98155 VLDLR_HUMAN VLDLR Very low-density lipoprotein receptor 873 96.1 9 Cell membrane; Membrane 1 1 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 27 1 5 1996-10-01 O14776 TCRG1_HUMAN TCERG1 Transcription elongation regulator 1 1098 123.9 5 Nucleus 0 0 27 1 5 2004-09-27 P49768 PSN1_HUMAN PSEN1 Presenilin-1 467 52.7 14 3.4.23.- Endoplasmic reticulum; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic granule; Cell membrane; Cell projection; Early endosome; Early endosome membrane; Synapse 9 5 Alzheimer disease 3; Frontotemporal dementia 1; Cardiomyopathy, dilated, 1U; Acne inversa, familial, 3; Pick disease of the brain 27 1 5 1996-10-01 P52815 RM12_HUMAN MRPL12 Large ribosomal subunit protein bL12m 198 21.3 17 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 45 27 1 5 1996-10-01 Q15758 AAAT_HUMAN SLC1A5 Neutral amino acid transporter B(0) 541 56.6 19 Cell membrane; Apical cell membrane; Melanosome 8 0 27 1 5 1998-07-15 Q99613 EIF3C_HUMAN EIF3C Eukaryotic translation initiation factor 3 subunit C 913 105.3 16 Cytoplasm 0 0 27 1 5 2000-05-30 Q99683 M3K5_HUMAN MAP3K5 Mitogen-activated protein kinase kinase kinase 5 1374 154.5 6 2.7.11.25 Cytoplasm; Endoplasmic reticulum 0 0 27 1 5 2000-05-30 Q9UQF2 JIP1_HUMAN MAPK8IP1 C-Jun-amino-terminal kinase-interacting protein 1 711 77.5 11 Cytoplasm; Nucleus; Endoplasmic reticulum membrane; Mitochondrion membrane 0 1 Type 2 diabetes mellitus 27 1 5 2001-12-05 Q9Y3C8 UFC1_HUMAN UFC1 Ubiquitin-fold modifier-conjugating enzyme 1 167 19.5 1 0 1 Neurodevelopmental disorder with spasticity and poor growth 27 1 5 2000-05-30 O75581 LRP6_HUMAN LRP6 Low-density lipoprotein receptor-related protein 6 1613 180.4 12 Cell membrane; Endoplasmic reticulum; Membrane raft 1 4 Coronary artery disease, autosomal dominant, 2; Tooth agenesis, selective, 7; Vitreoretinopathy, exudative 8; Osteopetrosis, autosomal dominant 4 27 1 5 2004-05-10 P00390 GSHR_HUMAN GSR Glutathione reductase, mitochondrial 522 56.3 8 1.8.1.7 Mitochondrion 0 1 Anemia, congenital, non-spherocytic hemolytic, 10 27 1 5 1986-07-21 P41594 GRM5_HUMAN GRM5 Metabotropic glutamate receptor 5 1212 132.5 11 Cell membrane 7 0 27 1 5 1995-11-01 Q96CW5 GCP3_HUMAN TUBGCP3 Gamma-tubulin complex component 3 907 103.6 13 Cytoplasm 0 0 27 1 5 2002-06-06 O00303 EIF3F_HUMAN EIF3F Eukaryotic translation initiation factor 3 subunit F 357 37.6 11 Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 67 27 1 5 2000-05-30 O15372 EIF3H_HUMAN EIF3H Eukaryotic translation initiation factor 3 subunit H 352 39.9 8 Cytoplasm 0 0 27 1 5 2000-05-30 O43504 LTOR5_HUMAN LAMTOR5 Ragulator complex protein LAMTOR5 91 9.6 1 Lysosome; Cytoplasm 0 0 27 1 5 1999-07-15 P01008 ANT3_HUMAN SERPINC1 Antithrombin-III 464 52.6 1 Secreted 0 1 Antithrombin III deficiency 27 1 5 1986-07-21 P19544 WT1_HUMAN WT1 Wilms tumor protein 449 49.2 11 Nucleus; Cytoplasm 0 6 Frasier syndrome; Wilms tumor 1; Denys-Drash syndrome; Nephrotic syndrome 4; Meacham syndrome; Mesothelioma, malignant 27 1 5 1991-02-01 P26358 DNMT1_HUMAN DNMT1 DNA (cytosine-5)-methyltransferase 1 1616 183.2 19 2.1.1.37 Nucleus; Chromosome 0 2 Neuropathy, hereditary sensory, 1E; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant 27 1 5 1992-05-01 Q15291 RBBP5_HUMAN RBBP5 Retinoblastoma-binding protein 5 538 59.2 1 Nucleus 0 0 27 1 5 2001-10-18 Q8N8S7 ENAH_HUMAN ENAH Protein enabled homolog 591 66.5 1 Cytoplasm; Cell projection; Synapse; Cell junction 0 0 27 1 5 2004-06-07 O60306 AQR_HUMAN AQR RNA helicase aquarius 1485 171.3 15 3.6.4.13 Nucleus 0 0 27 1 5 2006-10-17 P22557 HEM0_HUMAN ALAS2 5-aminolevulinate synthase, erythroid-specific, mitochondrial 587 64.6 X 2.3.1.37 Mitochondrion inner membrane 0 2 Anemia, sideroblastic, 1; Erythropoietic protoporphyria, X-linked dominant 27 1 5 1991-08-01 P30291 WEE1_HUMAN WEE1 Wee1-like protein kinase 646 71.6 11 2.7.10.2 Nucleus 0 0 27 1 5 1993-04-01 P60891 PRPS1_HUMAN PRPS1 Ribose-phosphate pyrophosphokinase 1 318 34.8 X 2.7.6.1 0 4 Phosphoribosylpyrophosphate synthetase superactivity; Charcot-Marie-Tooth disease, X-linked recessive, 5; ARTS syndrome; Deafness, X-linked, 1 27 1 5 2004-04-13 Q96FI4 NEIL1_HUMAN NEIL1 Endonuclease 8-like 1 390 43.7 15 3.2.2.-, 4.2.99.18 Cytoplasm; Nucleus; Chromosome 0 0 27 1 5 2004-12-07 Q9HCG8 CWC22_HUMAN CWC22 Pre-mRNA-splicing factor CWC22 homolog 908 105.5 2 Nucleus; Nucleus speckle 0 0 27 1 5 2007-09-11 Q9NZ42 PEN2_HUMAN PSENEN Gamma-secretase subunit PEN-2 101 12 19 Endoplasmic reticulum membrane; Golgi apparatus; Cell membrane; Membrane 1 1 Acne inversa, familial, 2, with or without Dowling-Degos disease 27 1 5 2003-09-26 Q9UBL3 ASH2L_HUMAN ASH2L Set1/Ash2 histone methyltransferase complex subunit ASH2 628 68.7 8 Nucleus 0 0 27 1 5 2003-06-16 Q9UI30 TR112_HUMAN TRMT112 Multifunctional methyltransferase subunit TRM112-like protein 125 14.2 11 Nucleus; Cytoplasm 0 0 27 1 5 2004-05-24 Q9Y5P4 CERT_HUMAN CERT1 Ceramide transfer protein 624 70.8 5 Cytoplasm; Golgi apparatus; Endoplasmic reticulum 0 1 Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies 27 1 5 2002-05-15 P01011 AACT_HUMAN SERPINA3 Alpha-1-antichymotrypsin 423 47.7 14 Secreted 0 0 26 1 5 1986-07-21 P01270 PTHY_HUMAN PTH Parathyroid hormone 115 12.9 11 Secreted 0 1 Hypoparathyroidism, familial isolated, 1 26 1 5 1986-07-21 P08670 VIME_HUMAN VIM Vimentin 466 53.7 10 Cytoplasm; Nucleus matrix; Cell membrane; Cell projection 0 1 Cataract 30, multiple types 26 1 5 1988-01-01 P21359 NF1_HUMAN NF1 Neurofibromin 2839 319.4 17 Nucleus; Cell membrane 0 6 Neurofibromatosis 1; Leukemia, juvenile myelomonocytic; Watson syndrome; Familial spinal neurofibromatosis; Neurofibromatosis-Noonan syndrome; Colorectal cancer 26 1 5 1991-05-01 Q13309 SKP2_HUMAN SKP2 S-phase kinase-associated protein 2 424 47.8 5 Cytoplasm; Nucleus 0 0 26 1 5 2003-10-03 Q13976 KGP1_HUMAN PRKG1 cGMP-dependent protein kinase 1 671 76.4 10 2.7.11.12 Cytoplasm 0 1 Aortic aneurysm, familial thoracic 8 26 1 5 2000-05-30 Q14289 FAK2_HUMAN PTK2B Protein-tyrosine kinase 2-beta 1009 115.9 8 2.7.10.2 Cytoplasm; Cell membrane; Cell junction; Cell projection; Nucleus 0 0 26 1 5 1998-07-15 Q14566 MCM6_HUMAN MCM6 DNA replication licensing factor MCM6 821 92.9 2 3.6.4.12 Nucleus; Chromosome 0 0 26 1 5 1997-11-01 Q16548 B2LA1_HUMAN BCL2A1 Bcl-2-related protein A1 175 20.1 15 Cytoplasm 0 0 26 1 5 1997-11-01 Q92630 DYRK2_HUMAN DYRK2 Dual specificity tyrosine-phosphorylation-regulated kinase 2 601 66.7 12 2.7.12.1 Cytoplasm; Nucleus 0 0 26 1 5 2001-04-27 O75899 GABR2_HUMAN GABBR2 Gamma-aminobutyric acid type B receptor subunit 2 941 105.8 9 Cell membrane; Postsynaptic cell membrane 7 2 Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy 59 26 1 5 2001-01-11 O95831 AIFM1_HUMAN AIFM1 Apoptosis-inducing factor 1, mitochondrial 613 66.9 X 1.6.99.- Mitochondrion intermembrane space; Mitochondrion inner membrane; Cytoplasm; Nucleus 0 4 Combined oxidative phosphorylation deficiency 6; Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia; Deafness, X-linked, 5, with peripheral neuropathy; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy 26 1 5 2001-04-27 P00751 CFAB_HUMAN CFB Complement factor B 764 85.5 6 3.4.21.47 Secreted 0 3 Macular degeneration, age-related, 14; Hemolytic uremic syndrome, atypical, 4; Complement factor B deficiency 26 1 5 1986-07-21 P35790 CHKA_HUMAN CHKA Choline kinase alpha 457 52.2 11 2.7.1.32 Cytoplasm 0 1 Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures 26 1 5 1994-06-01 P42568 AF9_HUMAN MLLT3 Protein AF-9 568 63.4 9 Nucleus; Chromosome 0 0 26 1 5 1995-11-01 P78356 PI42B_HUMAN PIP4K2B Phosphatidylinositol 5-phosphate 4-kinase type-2 beta 416 47.4 17 2.7.1.149 Endoplasmic reticulum membrane; Cell membrane; Nucleus; Cytoplasm 0 0 26 1 5 2004-05-24 Q03111 ENL_HUMAN MLLT1 Protein ENL 559 62.1 19 Nucleus 0 0 26 1 5 1994-02-01 Q08AG7 MZT1_HUMAN MZT1 Mitotic-spindle organizing protein 1 82 8.5 13 Cytoplasm 0 0 26 1 5 2008-05-20 Q13501 SQSTM_HUMAN SQSTM1 Sequestosome-1 440 47.7 5 Cytoplasmic vesicle; Preautophagosomal structure; Cytoplasm; Nucleus; Late endosome; Lysosome; Endoplasmic reticulum 0 4 Paget disease of bone 3; Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Myopathy, distal, with rimmed vacuoles 26 1 5 2005-10-11 Q14232 EI2BA_HUMAN EIF2B1 Translation initiation factor eIF2B subunit alpha 305 33.7 12 Cytoplasm 0 1 Leukoencephalopathy with vanishing white matter 1 26 1 5 1997-11-01 Q15047 SETB1_HUMAN SETDB1 Histone-lysine N-methyltransferase SETDB1 1291 143.2 1 2.1.1.366 Nucleus; Cytoplasm; Chromosome 0 0 26 1 5 2002-11-15 Q9NXA8 SIR5_HUMAN SIRT5 NAD-dependent protein deacylase sirtuin-5, mitochondrial 310 33.9 6 2.3.1.- Mitochondrion matrix; Mitochondrion intermembrane space; Cytoplasm; Nucleus 0 0 26 1 5 2003-10-31 O00541 PESC_HUMAN PES1 Pescadillo homolog 588 68 22 Nucleus; Chromosome 0 0 26 1 5 2002-06-20 O15371 EIF3D_HUMAN EIF3D Eukaryotic translation initiation factor 3 subunit D 548 64 22 Cytoplasm 0 0 26 1 5 2000-05-30 O75460 ERN1_HUMAN ERN1 Serine/threonine-protein kinase/endoribonuclease IRE1 977 109.7 17 Endoplasmic reticulum membrane 1 0 26 1 5 2004-08-16 P0DP25 CALM3_HUMAN CALM3 Calmodulin-3 149 16.8 14 Cytoplasm 0 2 Ventricular tachycardia, catecholaminergic polymorphic, 6; Long QT syndrome 16 26 1 5 2017-05-10 P10412 H14_HUMAN H1-4 Histone H1.4 219 21.9 6 Nucleus; Chromosome 0 1 Rahman syndrome 26 1 5 1989-07-01 P21333 FLNA_HUMAN FLNA Filamin-A 2647 280.7 X Cytoplasm; Perikaryon; Cell projection 0 10 Periventricular nodular heterotopia 1; Otopalatodigital syndrome 1; Otopalatodigital syndrome 2; Frontometaphyseal dysplasia 1; Melnick-Needles syndrome; Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked; FG syndrome 2; Terminal osseous dysplasia; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome, X-linked 26 1 5 1991-05-01 Q9H9Q4 NHEJ1_HUMAN NHEJ1 Non-homologous end-joining factor 1 299 33.3 2 Nucleus; Chromosome 0 2 Immunodeficiency 124, severe combined; Microphthalmia/coloboma 13 26 1 5 2006-03-21 Q9HCS7 SYF1_HUMAN XAB2 Pre-mRNA-splicing factor SYF1 855 100 19 Nucleus 0 0 26 1 5 2002-11-15 O43290 SNUT1_HUMAN SART1 U4/U6.U5 tri-snRNP-associated protein 1 800 90.3 11 Nucleus 0 0 26 1 5 2006-02-07 P24046 GBRR1_HUMAN GABRR1 Gamma-aminobutyric acid receptor subunit rho-1 479 55.9 6 Postsynaptic cell membrane; Cell membrane 4 0 26 1 5 1992-03-01 Q16875 F263_HUMAN PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 520 59.6 10 0 0 26 1 5 1998-07-15 Q8N371 KDM8_HUMAN KDM8 Bifunctional peptidase and arginyl-hydroxylase JMJD5 416 47.3 16 1.14.11.73, 3.4.-.- Nucleus; Chromosome 0 0 26 1 5 2007-06-26 Q99986 VRK1_HUMAN VRK1 Serine/threonine-protein kinase VRK1 396 45.5 14 2.7.11.1 Nucleus; Cytoplasm 0 2 Pontocerebellar hypoplasia 1A; Neuronopathy, distal hereditary motor, autosomal recessive 10 26 1 5 2003-10-10 Q9H3D4 P63_HUMAN TP63 Tumor protein 63 680 76.8 3 Nucleus 0 8 Acro-dermato-ungual-lacrimal-tooth syndrome; Ankyloblepharon-ectodermal defects-cleft lip/palate; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; Split-hand/foot malformation 4; Limb-mammary syndrome; Rapp-Hodgkin syndrome; Orofacial cleft 8; Premature ovarian failure 21 26 1 5 2005-01-04 O00488 ZN593_HUMAN ZNF593 Zinc finger protein 593 134 15.2 1 Nucleus; Cytoplasm 0 0 26 1 5 2002-03-27 O60508 PRP17_HUMAN CDC40 Pre-mRNA-processing factor 17 579 65.5 6 Nucleus; Nucleus speckle 0 1 Pontocerebellar hypoplasia 15 26 1 5 2001-09-26 P07333 CSF1R_HUMAN CSF1R Macrophage colony-stimulating factor 1 receptor 972 108 5 Cell membrane 1 2 Leukoencephalopathy, hereditary diffuse, with spheroids 1; Brain abnormalities, neurodegeneration, and dysosteosclerosis 26 1 5 1988-04-01 P08754 GNAI3_HUMAN GNAI3 Guanine nucleotide-binding protein G(i) subunit alpha-3 354 40.5 1 Cytoplasm; Cell membrane 0 1 Auriculocondylar syndrome 1 26 1 5 1988-11-01 P09601 HMOX1_HUMAN HMOX1 Heme oxygenase 1 288 32.8 22 1.14.14.18 Endoplasmic reticulum membrane 1 1 Heme oxygenase 1 deficiency 26 1 5 1989-07-01 Q16655 MAR1_HUMAN MLANA Melanoma antigen recognized by T-cells 1 118 13.2 9 Endoplasmic reticulum membrane; Golgi apparatus; Melanosome 1 0 26 1 5 1997-11-01 Q7KZ85 SPT6H_HUMAN SUPT6H Transcription elongation factor SPT6 1726 199.1 17 Nucleus 0 0 26 1 5 2004-08-31 Q92736 RYR2_HUMAN RYR2 Ryanodine receptor 2 4967 564.6 1 Sarcoplasmic reticulum membrane 6 2 Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 26 1 5 2001-09-26 Q9P243 ZFAT_HUMAN ZFAT Zinc finger protein ZFAT 1243 139 8 Nucleus; Cytoplasm 0 0 26 1 5 2003-09-19 Q9UDY8 MALT1_HUMAN MALT1 Mucosa-associated lymphoid tissue lymphoma translocation protein 1 824 92.3 18 3.4.22.- Cytoplasm; Nucleus 0 1 Immunodeficiency 12 26 1 5 2002-05-02 O43172 PRP4_HUMAN PRPF4 U4/U6 small nuclear ribonucleoprotein Prp4 522 58.4 9 Nucleus; Nucleus speckle 0 1 Retinitis pigmentosa 70 25 1 5 2002-05-02 O43526 KCNQ2_HUMAN KCNQ2 Potassium voltage-gated channel subfamily KQT member 2 872 95.8 20 Cell membrane 6 2 Seizures, benign familial neonatal 1; Developmental and epileptic encephalopathy 7 25 1 5 2001-06-01 O43598 DNPH1_HUMAN DNPH1 5-hydroxymethyl-dUMP N-hydrolase 174 19.1 6 3.2.2.- Cytoplasm; Nucleus 0 0 25 1 5 2005-05-10 P09038 FGF2_HUMAN FGF2 Fibroblast growth factor 2 288 30.8 4 Secreted; Nucleus 0 0 25 1 5 1988-11-01 P23193 TCEA1_HUMAN TCEA1 Transcription elongation factor A protein 1 301 34 8 Nucleus 0 0 25 1 5 1991-11-01 P30260 CDC27_HUMAN CDC27 Cell division cycle protein 27 homolog 824 91.9 17 Nucleus; Cytoplasm 0 0 25 1 5 1993-04-01 P41091 IF2G_HUMAN EIF2S3 Eukaryotic translation initiation factor 2 subunit 3 472 51.1 X 3.6.5.3 Cytoplasm 0 1 MEHMO syndrome 25 1 5 1995-02-01 P61956 SUMO2_HUMAN SUMO2 Small ubiquitin-related modifier 2 95 10.9 17 Nucleus 0 0 25 1 5 2004-06-07 Q16665 HIF1A_HUMAN HIF1A Hypoxia-inducible factor 1-alpha 826 92.7 14 Cytoplasm; Nucleus; Nucleus speckle 0 0 25 1 5 1997-11-01 Q8TD43 TRPM4_HUMAN TRPM4 Transient receptor potential cation channel subfamily M member 4 1214 134.3 19 Cell membrane; Endoplasmic reticulum; Golgi apparatus 6 2 Progressive familial heart block 1B; Erythrokeratodermia variabilis et progressiva 6 25 1 5 2006-10-31 Q9NQ11 AT132_HUMAN ATP13A2 Polyamine-transporting ATPase 13A2 1180 128.8 1 7.6.2.- Lysosome membrane; Late endosome membrane; Endosome; Cytoplasmic vesicle 10 2 Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 25 1 5 2001-06-01 O00411 RPOM_HUMAN POLRMT DNA-directed RNA polymerase, mitochondrial 1230 138.6 19 2.7.7.6 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 55 25 1 5 1998-12-15 O60894 RAMP1_HUMAN RAMP1 Receptor activity-modifying protein 1 148 17 2 Cell membrane 1 0 25 1 5 2000-12-01 O60911 CATL2_HUMAN CTSV Cathepsin L2 334 37.3 9 3.4.22.43 Lysosome 0 0 25 1 5 1998-12-15 P04181 OAT_HUMAN OAT Ornithine aminotransferase, mitochondrial 439 48.5 10 2.6.1.13 Mitochondrion matrix 0 1 Gyrate atrophy of choroid and retina 25 1 5 1987-03-20 P05165 PCCA_HUMAN PCCA Propionyl-CoA carboxylase alpha chain, mitochondrial 728 80.1 13 6.4.1.3 Mitochondrion matrix 0 1 Propionic acidemia type I 25 1 5 1987-08-13 P46093 GPR4_HUMAN GPR4 G protein-coupled receptor 4 362 41 19 Cell membrane 7 0 25 1 5 1995-11-01 P49770 EI2BB_HUMAN EIF2B2 Translation initiation factor eIF2B subunit beta 351 39 14 Cytoplasm 0 1 Leukoencephalopathy with vanishing white matter 2 25 1 5 1996-10-01 Q8NFU5 IPMK_HUMAN IPMK Inositol polyphosphate multikinase 416 47.2 10 2.7.1.140, 2.7.1.151, 2.7.1.153 Nucleus 0 0 25 1 5 2004-07-19 Q92831 KAT2B_HUMAN KAT2B Histone acetyltransferase KAT2B 832 93 3 2.3.1.48 Nucleus; Cytoplasm 0 0 25 1 5 2002-10-19 Q9BZ95 NSD3_HUMAN NSD3 Histone-lysine N-methyltransferase NSD3 1437 161.6 8 2.1.1.370, 2.1.1.371 Nucleus; Chromosome 0 0 25 1 5 2006-10-31 Q9UHA4 LTOR3_HUMAN LAMTOR3 Ragulator complex protein LAMTOR3 124 13.6 4 Late endosome membrane 0 0 25 1 5 2002-10-25 Q9UQ84 EXO1_HUMAN EXO1 Exonuclease 1 846 94.1 1 3.1.-.- Nucleus 0 0 25 1 5 2006-01-24 O15439 MRP4_HUMAN ABCC4 ATP-binding cassette sub-family C member 4 1325 149.5 13 7.6.2.-, 7.6.2.2, 7.6.2.3 Basolateral cell membrane; Apical cell membrane 12 0 25 1 5 1998-07-15 P00451 FA8_HUMAN F8 Coagulation factor VIII 2351 267 X Secreted 0 2 Hemophilia A; Thrombophilia 13, X-linked, due to factor VIII defect 25 1 5 1986-07-21 P12268 IMDH2_HUMAN IMPDH2 Inosine-5'-monophosphate dehydrogenase 2 514 55.8 3 1.1.1.205 Cytoplasm; Nucleus 0 0 25 1 5 1989-10-01 P49023 PAXI_HUMAN PXN Paxillin 591 64.5 12 Cytoplasm; Cell junction 0 0 25 1 5 1996-02-01 Q05086 UBE3A_HUMAN UBE3A Ubiquitin-protein ligase E3A 875 100.7 15 2.3.2.26 Cytoplasm; Nucleus 0 1 Angelman syndrome 25 1 5 1997-11-01 Q13144 EI2BE_HUMAN EIF2B5 Translation initiation factor eIF2B subunit epsilon 721 80.4 3 Cytoplasm 0 1 Leukoencephalopathy with vanishing white matter 5 25 1 5 1997-11-01 Q86W56 PARG_HUMAN PARG Poly(ADP-ribose) glycohydrolase 976 111.1 10 3.2.1.143 Nucleus 0 0 25 1 5 2004-10-25 Q8TE23 TS1R2_HUMAN TAS1R2 Taste receptor type 1 member 2 839 95.2 1 Cell membrane 7 0 25 1 5 2005-01-04 Q96BI3 APH1A_HUMAN APH1A Gamma-secretase subunit APH-1A 265 29 1 Endoplasmic reticulum membrane; Golgi apparatus 7 0 25 1 5 2003-09-26 Q99640 PMYT1_HUMAN PKMYT1 Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase 499 54.5 16 2.7.11.1 Endoplasmic reticulum membrane; Golgi apparatus membrane 0 0 25 1 5 2004-11-23 Q9BYG3 MK67I_HUMAN NIFK MKI67 FHA domain-interacting nucleolar phosphoprotein 293 34.2 2 Nucleus; Chromosome 0 0 25 1 5 2005-07-19 Q9NR50 EI2BG_HUMAN EIF2B3 Translation initiation factor eIF2B subunit gamma 452 50.2 1 Cytoplasm 0 1 Leukoencephalopathy with vanishing white matter 3 25 1 5 2001-09-26 Q9UHD2 TBK1_HUMAN TBK1 Serine/threonine-protein kinase TBK1 729 83.6 12 2.7.11.1 Cytoplasm 0 4 Glaucoma 1, open angle, P; Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced, 8, herpes-specific; Autoinflammation with arthritis and vasculitis 25 1 5 2005-12-20 Q9UQ35 SRRM2_HUMAN SRRM2 Serine/arginine repetitive matrix protein 2 2752 299.6 16 Nucleus; Nucleus speckle 0 1 Intellectual developmental disorder, autosomal dominant 72 25 1 5 2006-09-05 O43318 M3K7_HUMAN MAP3K7 Mitogen-activated protein kinase kinase kinase 7 606 67.2 6 2.7.11.25 Cytoplasm; Cell membrane 0 2 Frontometaphyseal dysplasia 2; Cardiospondylocarpofacial syndrome 25 1 5 2000-12-01 P22830 HEMH_HUMAN FECH Ferrochelatase, mitochondrial 423 47.9 18 4.98.1.1 Mitochondrion inner membrane 0 1 Protoporphyria, erythropoietic, 1 25 1 5 1991-08-01 P35372 OPRM_HUMAN OPRM1 Mu-type opioid receptor 400 44.8 6 Cell membrane; Cell projection; Perikaryon; Endosome 7 0 25 1 5 1994-06-01 P55055 NR1H2_HUMAN NR1H2 Oxysterols receptor LXR-beta 460 51 19 Nucleus 0 0 25 1 5 1996-10-01 Q16602 CALRL_HUMAN CALCRL Calcitonin gene-related peptide type 1 receptor 461 53 2 Cell membrane 7 1 Lymphatic malformation 8 25 1 5 1997-11-01 Q9GZU1 MCLN1_HUMAN MCOLN1 Mucolipin-1 580 65 19 Late endosome membrane; Lysosome membrane; Cytoplasmic vesicle membrane; Cell projection; Cytoplasmic vesicle; Cell membrane 6 2 Mucolipidosis 4; Corneal dystrophy, Lisch epithelial 25 1 5 2004-07-19 Q9NRG4 SMYD2_HUMAN SMYD2 N-lysine methyltransferase SMYD2 433 49.7 1 2.1.1.- Cytoplasm; Nucleus 0 0 25 1 5 2004-05-10 O14786 NRP1_HUMAN NRP1 Neuropilin-1 923 103.1 10 Mitochondrion membrane; Cell membrane; Cytoplasm 1 0 25 1 5 2000-05-30 O76083 PDE9A_HUMAN PDE9A High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A 593 68.5 21 3.1.4.35 Cell projection; Cytoplasm; Golgi apparatus; Endoplasmic reticulum; Cell membrane 0 0 25 1 5 1999-07-15 P01106 MYC_HUMAN MYC Myc proto-oncogene protein 454 50.6 8 Nucleus; Cytoplasm; Chromosome 0 1 Burkitt lymphoma 25 1 5 1986-07-21 P11413 G6PD_HUMAN G6PD Glucose-6-phosphate 1-dehydrogenase 515 59.3 X 1.-.-.-, 1.1.1.49 Cytoplasm; Membrane 0 1 Anemia, congenital, non-spherocytic hemolytic, 1 25 1 5 1989-10-01 P22894 MMP8_HUMAN MMP8 Neutrophil collagenase 467 53.4 11 3.4.24.34 Cytoplasmic granule; Secreted 0 0 25 1 5 1991-08-01 P45379 TNNT2_HUMAN TNNT2 Troponin T, cardiac muscle 298 35.9 1 0 3 Cardiomyopathy, familial hypertrophic, 2; Cardiomyopathy, dilated, 1D; Cardiomyopathy, familial restrictive 3 25 1 5 1995-11-01 P51681 CCR5_HUMAN CCR5 C-C chemokine receptor type 5 352 40.5 3 Cell membrane 7 1 Type 1 diabetes mellitus 22 25 1 5 1996-10-01 Q0VGL1 LTOR4_HUMAN LAMTOR4 Ragulator complex protein LAMTOR4 99 10.7 7 Lysosome 0 0 25 1 5 2008-03-18 Q5VST9 OBSCN_HUMAN OBSCN Obscurin 7968 868.5 1 2.7.11.1 Cytoplasm; Cell membrane; Nucleus 0 1 Rhabdomyolysis 1 25 1 5 2006-05-16 Q9H9Q2 CSN7B_HUMAN COPS7B COP9 signalosome complex subunit 7b 264 29.6 2 Cytoplasm; Nucleus 0 0 25 1 5 2004-11-23 Q9UI10 EI2BD_HUMAN EIF2B4 Translation initiation factor eIF2B subunit delta 523 57.6 2 Cytoplasm 0 1 Leukoencephalopathy with vanishing white matter 4 25 1 5 2000-12-01 Q9Y5Y6 ST14_HUMAN ST14 Suppressor of tumorigenicity 14 protein 855 94.8 11 3.4.21.109 Membrane 1 1 Ichthyosis, congenital, autosomal recessive 11 25 1 5 2001-02-21 Q6DKI1 RL7L_HUMAN RPL7L1 Ribosomal protein uL30-like 255 29.7 6 0 0 25 1 3 2004-09-27 P12694 ODBA_HUMAN BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial 445 50.5 19 1.2.4.4 Mitochondrion matrix 0 1 Maple syrup urine disease 1A 24 1 5 1989-10-01 P13051 UNG_HUMAN UNG Uracil-DNA glycosylase 313 34.6 12 3.2.2.27 Mitochondrion 0 1 Immunodeficiency with hyper-IgM 5 24 1 5 1990-01-01 P22897 MRC1_HUMAN MRC1 Macrophage mannose receptor 1 1456 166 10 Endosome membrane; Cell membrane 1 0 24 1 5 1991-08-01 P33991 MCM4_HUMAN MCM4 DNA replication licensing factor MCM4 863 96.6 8 3.6.4.12 Nucleus; Chromosome 0 1 Immunodeficiency 54 24 1 5 1994-02-01 Q8N4E7 FTMT_HUMAN FTMT Ferritin, mitochondrial 242 27.5 5 1.16.3.1 Mitochondrion 0 0 24 1 5 2005-04-26 P13639 EF2_HUMAN EEF2 Elongation factor 2 858 95.3 19 3.6.5.- Cytoplasm; Nucleus 0 1 Spinocerebellar ataxia 26 24 1 5 1990-01-01 P25205 MCM3_HUMAN MCM3 DNA replication licensing factor MCM3 808 91 6 3.6.4.12 Nucleus; Chromosome 0 0 24 1 5 1992-05-01 P33993 MCM7_HUMAN MCM7 DNA replication licensing factor MCM7 719 81.3 7 3.6.4.12 Nucleus; Chromosome 0 0 24 1 5 1994-02-01 Q13541 4EBP1_HUMAN EIF4EBP1 Eukaryotic translation initiation factor 4E-binding protein 1 118 12.6 8 Cytoplasm; Nucleus 0 0 24 1 5 2003-09-19 Q96P20 NLRP3_HUMAN NLRP3 NACHT, LRR and PYD domains-containing protein 3 1036 118.2 1 3.6.4.- Cytoplasm; Inflammasome; Golgi apparatus membrane; Endoplasmic reticulum; Mitochondrion; Secreted; Nucleus 0 5 Familial cold autoinflammatory syndrome 1; Muckle-Wells syndrome; Chronic infantile neurologic cutaneous and articular syndrome; Keratoendothelitis fugax hereditaria; Deafness, autosomal dominant, 34, with or without inflammation 24 1 5 2002-05-02 Q9UKL4 CXD2_HUMAN GJD2 Gap junction delta-2 protein 321 36.1 15 Cell membrane; Cell junction 4 0 24 1 5 2000-12-01 P04233 HG2A_HUMAN CD74 HLA class II histocompatibility antigen gamma chain 296 33.5 5 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endosome; Lysosome; Secreted 1 0 24 1 5 1987-03-20 P29033 CXB2_HUMAN GJB2 Gap junction beta-2 protein 226 26.2 13 Cell membrane; Cell junction 4 7 Deafness, autosomal recessive, 1A; Deafness, autosomal dominant, 3A; Vohwinkel syndrome; Keratoderma, palmoplantar, with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Bart-Pumphrey syndrome; Ichthyosis hystrix-like with deafness syndrome 24 1 5 1992-12-01 P55265 DSRAD_HUMAN ADAR Double-stranded RNA-specific adenosine deaminase 1226 136.1 1 3.5.4.37 Cytoplasm; Nucleus 0 2 Dyschromatosis symmetrica hereditaria; Aicardi-Goutieres syndrome 6 24 1 5 1996-10-01 Q13765 NACA_HUMAN NACA Nascent polypeptide-associated complex subunit alpha 215 23.4 12 Cytoplasm; Nucleus 0 0 24 1 5 2005-07-19 Q96RR4 KKCC2_HUMAN CAMKK2 Calcium/calmodulin-dependent protein kinase kinase 2 588 64.7 12 2.7.11.17 Nucleus; Cytoplasm; Cell projection 0 0 24 1 5 2004-12-07 Q99972 MYOC_HUMAN MYOC Myocilin 504 57 1 Secreted; Golgi apparatus; Cytoplasmic vesicle; Mitochondrion; Mitochondrion intermembrane space; Mitochondrion inner membrane; Mitochondrion outer membrane; Rough endoplasmic reticulum; Cell projection 0 2 Glaucoma 1, open angle, A; Glaucoma 3, primary congenital, A 24 1 5 1998-07-15 Q9UBS5 GABR1_HUMAN GABBR1 Gamma-aminobutyric acid type B receptor subunit 1 961 108.3 6 Cell membrane; Postsynaptic cell membrane; Cell projection 7 1 Neurodevelopmental disorder with language delay and variable cognitive abnormalities 24 1 5 2001-01-11 Q9UI95 MD2L2_HUMAN MAD2L2 Mitotic spindle assembly checkpoint protein MAD2B 211 24.3 1 Nucleus; Cytoplasm; Chromosome 0 1 Fanconi anemia, complementation group V 24 1 5 2001-01-11 P00352 AL1A1_HUMAN ALDH1A1 Aldehyde dehydrogenase 1A1 501 54.9 9 1.2.1.19, 1.2.1.28, 1.2.1.3, 1.2.1.36 Cytoplasm; Cell projection 0 0 24 1 5 1986-07-21 P02741 CRP_HUMAN CRP C-reactive protein 224 25 1 Secreted 0 0 24 1 5 1986-07-21 P08183 MDR1_HUMAN ABCB1 ATP-dependent translocase ABCB1 1280 141.5 7 Cell membrane; Apical cell membrane; Cytoplasm 12 2 Inflammatory bowel disease 13; Encephalopathy, acute transient 24 1 5 1988-08-01 P20585 MSH3_HUMAN MSH3 DNA mismatch repair protein Msh3 1137 127.4 5 0 2 Endometrial cancer; Familial adenomatous polyposis 4 24 1 5 1991-02-01 P21579 SYT1_HUMAN SYT1 Synaptotagmin-1 422 47.6 12 Cytoplasmic vesicle; Cytoplasm 1 1 Baker-Gordon syndrome 24 1 5 1991-05-01 P21953 ODBB_HUMAN BCKDHB 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial 392 43.1 6 1.2.4.4 Mitochondrion matrix 0 1 Maple syrup urine disease 1B 24 1 5 1991-08-01 P30989 NTR1_HUMAN NTSR1 Neurotensin receptor type 1 418 46.3 20 Cell membrane; Membrane raft 7 0 24 1 5 1993-07-01 Q12809 KCNH2_HUMAN KCNH2 Voltage-gated inwardly rectifying potassium channel KCNH2 1159 126.7 7 Cell membrane 6 2 Long QT syndrome 2; Short QT syndrome 1 24 1 5 2000-05-30 Q12931 TRAP1_HUMAN TRAP1 Heat shock protein 75 kDa, mitochondrial 704 80.1 16 Mitochondrion; Mitochondrion inner membrane; Mitochondrion matrix 0 0 24 1 5 1999-07-15 Q13191 CBLB_HUMAN CBLB E3 ubiquitin-protein ligase CBL-B 982 109.5 3 2.3.2.27 Cytoplasm 0 1 Autoimmune disease, multisystem, infantile-onset, 3 24 1 5 2000-12-01 Q14573 ITPR3_HUMAN ITPR3 Inositol 1,4,5-trisphosphate-gated calcium channel ITPR3 2671 304.1 6 Endoplasmic reticulum membrane; Cytoplasmic vesicle 6 2 Charcot-Marie-Tooth disease, demyelinating, type 1J; Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy 24 1 5 2001-11-02 Q8N300 SVBP_HUMAN SVBP Small vasohibin-binding protein 66 7.8 1 Cytoplasm; Secreted 0 1 Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 24 1 5 2006-05-02 Q93077 H2A1C_HUMAN H2AC6 Histone H2A type 1-C 130 14.1 6 Nucleus; Chromosome 0 0 24 1 5 2001-01-24 Q9H1D0 TRPV6_HUMAN TRPV6 Transient receptor potential cation channel subfamily V member 6 765 87.3 7 Cell membrane 6 1 Hyperparathyroidism, transient neonatal 24 1 5 2005-04-26 P00492 HPRT_HUMAN HPRT1 Hypoxanthine-guanine phosphoribosyltransferase 218 24.6 X 2.4.2.8 Cytoplasm 0 2 Lesch-Nyhan syndrome; Hyperuricemia, HPRT-related 24 1 5 1986-07-21 P04035 HMDH_HUMAN HMGCR 3-hydroxy-3-methylglutaryl-coenzyme A reductase 888 97.5 5 1.1.1.34 Endoplasmic reticulum membrane; Peroxisome membrane 8 1 Muscular dystrophy, limb-girdle, autosomal recessive 28 24 1 5 1986-11-01 P11717 MPRI_HUMAN IGF2R Cation-independent mannose-6-phosphate receptor 2491 274.4 6 Golgi apparatus membrane; Endosome membrane 1 0 24 1 5 1989-10-01 Q9BUQ8 DDX23_HUMAN DDX23 Probable ATP-dependent RNA helicase DDX23 820 95.6 12 3.6.4.13 Nucleus; Chromosome 0 0 24 1 5 2005-06-07 Q9NP97 DLRB1_HUMAN DYNLRB1 Dynein light chain roadblock-type 1 96 10.9 20 Cytoplasm 0 0 24 1 5 2003-04-23 Q9Y2J8 PADI2_HUMAN PADI2 Protein-arginine deiminase type-2 665 75.6 1 3.5.3.15 Cytoplasm 0 0 24 1 5 2000-05-30 O43237 DC1L2_HUMAN DYNC1LI2 Cytoplasmic dynein 1 light intermediate chain 2 492 54.1 16 Cytoplasm 0 0 23 1 5 1998-07-15 O75369 FLNB_HUMAN FLNB Filamin-B 2602 278.2 3 Cytoplasm 0 5 Atelosteogenesis 1; Atelosteogenesis 3; Boomerang dysplasia; Larsen syndrome; Spondylocarpotarsal synostosis syndrome 23 1 5 2003-11-07 P06734 FCER2_HUMAN FCER2 Low affinity immunoglobulin epsilon Fc receptor 321 36.5 19 Cell membrane; Secreted 1 0 23 1 5 1988-01-01 P15941 MUC1_HUMAN MUC1 Mucin-1 1255 122.1 1 Apical cell membrane 1 1 Tubulointerstitial kidney disease, autosomal dominant 2 23 1 5 1990-04-01 P21860 ERBB3_HUMAN ERBB3 Receptor tyrosine-protein kinase erbB-3 1342 148.1 12 2.7.10.1 Cell membrane 1 3 Lethal congenital contracture syndrome 2; Erythroleukemia, familial; Visceral neuropathy, familial, 1, autosomal recessive 23 1 5 1991-05-01 P30043 BLVRB_HUMAN BLVRB Flavin reductase (NADPH) 206 22.1 19 1.5.1.30 Cytoplasm 0 0 23 1 5 1993-04-01 P35637 FUS_HUMAN FUS RNA-binding protein FUS 526 53.4 16 Nucleus 0 3 Angiomatoid fibrous histiocytoma; Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; Tremor, hereditary essential 4 23 1 5 1994-06-01 Q15418 KS6A1_HUMAN RPS6KA1 Ribosomal protein S6 kinase alpha-1 735 82.7 1 2.7.11.1 Nucleus; Cytoplasm 0 0 23 1 5 1998-12-15 Q504T8 MIDN_HUMAN MIDN Midnolin 468 49.2 19 Nucleus; Cytoplasm 0 0 23 1 5 2007-05-15 Q9NYG5 APC11_HUMAN ANAPC11 Anaphase-promoting complex subunit 11 84 9.8 17 Cytoplasm; Nucleus 0 0 23 1 5 2001-08-29 P33992 MCM5_HUMAN MCM5 DNA replication licensing factor MCM5 734 82.3 22 3.6.4.12 Nucleus; Chromosome 0 1 Meier-Gorlin syndrome 8 23 1 5 1994-02-01 P34947 GRK5_HUMAN GRK5 G protein-coupled receptor kinase 5 590 67.8 10 2.7.11.16 Cytoplasm; Nucleus; Cell membrane 0 0 23 1 5 1994-02-01 P54578 UBP14_HUMAN USP14 Ubiquitin carboxyl-terminal hydrolase 14 494 56.1 18 3.4.19.12 Cytoplasm; Cell membrane 0 0 23 1 5 1996-10-01 P78310 CXAR_HUMAN CXADR Coxsackievirus and adenovirus receptor 365 40 21 Cell membrane; Basolateral cell membrane; Cell junction 1 0 23 1 5 2000-05-30 Q14974 IMB1_HUMAN KPNB1 Importin subunit beta-1 876 97.2 17 Cytoplasm; Nucleus envelope 0 0 23 1 5 1997-11-01 Q7L0J3 SV2A_HUMAN SV2A Synaptic vesicle glycoprotein 2A 742 82.7 1 Presynapse; Cytoplasmic vesicle 12 1 Developmental and epileptic encephalopathy 113 23 1 5 2006-06-13 Q7Z3F1 LYCHS_HUMAN GPR155 Lysosomal cholesterol signaling protein 870 96.9 2 Lysosome membrane 17 0 23 1 5 2005-06-21 Q9NZ08 ERAP1_HUMAN ERAP1 Endoplasmic reticulum aminopeptidase 1 941 107.2 5 3.4.11.- Endoplasmic reticulum membrane 1 0 23 1 5 2002-03-05 P36969 GPX4_HUMAN GPX4 Phospholipid hydroperoxide glutathione peroxidase GPX4 197 22.2 19 1.11.1.12 Mitochondrion 0 1 Spondylometaphyseal dysplasia, Sedaghatian type 23 1 5 1994-06-01 P46976 GLYG_HUMAN GYG1 Glycogenin-1 350 39.4 3 2.4.1.186 Cytoplasm; Nucleus 0 2 Glycogen storage disease 15; Polyglucosan body myopathy 2 23 1 5 1995-11-01 P54760 EPHB4_HUMAN EPHB4 Ephrin type-B receptor 4 987 108.3 7 2.7.10.1 Cell membrane 1 2 Lymphatic malformation 7; Capillary malformation-arteriovenous malformation 2 23 1 5 1996-10-01 P78358 CTG1B_HUMAN CTAG1A Cancer/testis antigen 1 180 18 X Cytoplasm 0 0 23 1 5 1998-12-15 Q15561 TEAD4_HUMAN TEAD4 Transcriptional enhancer factor TEF-3 434 48.3 12 Nucleus 0 0 23 1 5 1997-11-01 Q16236 NF2L2_HUMAN NFE2L2 Nuclear factor erythroid 2-related factor 2 605 67.8 2 Cytoplasm; Nucleus 0 1 Immunodeficiency, developmental delay, and hypohomocysteinemia 23 1 5 1999-07-15 Q9UJX6 ANC2_HUMAN ANAPC2 Anaphase-promoting complex subunit 2 822 93.8 9 0 0 23 1 5 2003-10-03 Q13823 NOG2_HUMAN GNL2 Nucleolar GTP-binding protein 2 731 83.7 1 Nucleus 0 0 23 1 5 1998-07-15 Q14457 BECN1_HUMAN BECN1 Beclin-1 450 51.9 17 Cytoplasm; Golgi apparatus; Endosome membrane; Endoplasmic reticulum membrane; Mitochondrion membrane; Endosome; Cytoplasmic vesicle 0 0 23 1 5 1998-07-15 Q14587 ZN268_HUMAN ZNF268 Zinc finger protein 268 947 108.4 12 Cytoplasm 0 0 23 1 5 2000-12-01 Q9UMS4 PRP19_HUMAN PRPF19 Pre-mRNA-processing factor 19 504 55.2 11 2.3.2.27 Nucleus; Cytoplasm; Lipid droplet 0 0 23 1 5 2004-11-23 O14746 TERT_HUMAN TERT Telomerase reverse transcriptase 1132 127 5 2.7.7.49 Nucleus; Chromosome; Cytoplasm 0 5 Aplastic anemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1; Dyskeratosis congenita, autosomal recessive, 4; Melanoma, cutaneous malignant 9 23 1 5 2000-05-30 O95989 NUDT3_HUMAN NUDT3 Diphosphoinositol polyphosphate phosphohydrolase 1 172 19.5 6 3.6.1.52 Cytoplasm; Nucleus 0 0 23 1 5 2005-07-05 P02753 RET4_HUMAN RBP4 Retinol-binding protein 4 201 23 10 Secreted 0 2 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome; Microphthalmia/Coloboma 10 23 1 5 1986-07-21 P05166 PCCB_HUMAN PCCB Propionyl-CoA carboxylase beta chain, mitochondrial 539 58.2 3 6.4.1.3 Mitochondrion matrix 0 1 Propionic acidemia type II 23 1 5 1987-08-13 P13501 CCL5_HUMAN CCL5 C-C motif chemokine 5 91 10 17 Secreted 0 0 23 1 5 1990-01-01 P30046 DOPD_HUMAN DDT D-dopachrome decarboxylase 118 12.7 22 4.1.1.84 Cytoplasm 0 0 23 1 5 1993-04-01 P31644 GBRA5_HUMAN GABRA5 Gamma-aminobutyric acid receptor subunit alpha-5 462 52.1 15 Postsynaptic cell membrane; Cell membrane 4 1 Developmental and epileptic encephalopathy 79 23 1 5 1993-07-01 P49642 PRI1_HUMAN PRIM1 DNA primase small subunit 420 49.9 12 2.7.7.102 0 1 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome 23 1 5 1996-02-01 P54619 AAKG1_HUMAN PRKAG1 5'-AMP-activated protein kinase subunit gamma-1 331 37.6 12 0 0 23 1 5 1996-10-01 P61224 RAP1B_HUMAN RAP1B Ras-related protein Rap-1b 184 20.8 12 3.6.5.2 Cell membrane; Cytoplasm; Cell junction 0 1 Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies 23 1 5 2004-05-10 Q13231 CHIT1_HUMAN CHIT1 Chitotriosidase-1 466 51.7 1 3.2.1.14 Secreted; Lysosome 0 0 23 1 5 2003-10-24 Q6PKG0 LARP1_HUMAN LARP1 La-related protein 1 1096 123.5 5 Cytoplasm; Cytoplasmic granule 0 0 23 1 5 2005-08-16 Q8NC51 SERB1_HUMAN SERBP1 SERPINE1 mRNA-binding protein 1 408 45 1 Cytoplasm; Nucleus 0 0 23 1 5 2004-09-27 Q9BPZ7 SIN1_HUMAN MAPKAP1 Target of rapamycin complex 2 subunit MAPKAP1 522 59.1 9 Cell membrane; Endoplasmic reticulum membrane; Early endosome membrane; Late endosome membrane; Lysosome membrane; Golgi apparatus membrane; Mitochondrion outer membrane; Cytoplasm; Nucleus 0 0 23 1 5 2001-08-14 Q9BXB1 LGR4_HUMAN LGR4 Leucine-rich repeat-containing G protein-coupled receptor 4 951 104.5 11 Cell membrane 7 2 Osteoporosis; Delayed puberty, self-limited 23 1 5 2002-06-20 Q9Y6W6 DUS10_HUMAN DUSP10 Dual specificity protein phosphatase 10 482 52.6 1 3.1.3.16, 3.1.3.48 Cytoplasm; Nucleus 0 0 23 1 5 2002-01-23 O43826 G6PT1_HUMAN SLC37A4 Glucose-6-phosphate exchanger SLC37A4 429 46.4 Endoplasmic reticulum membrane 12 4 Glycogen storage disease 1B; Glycogen storage disease 1C; Glycogen storage disease 1D; Congenital disorder of glycosylation 2W 22 1 5 1998-12-15 P02786 TFR1_HUMAN TFRC Transferrin receptor protein 1 760 84.9 3 Cell membrane; Melanosome 1 1 Immunodeficiency 46 22 1 5 1986-07-21 P07359 GP1BA_HUMAN GP1BA Platelet glycoprotein Ib alpha chain 652 71.5 17 Membrane 1 4 Non-arteritic anterior ischemic optic neuropathy; Bernard-Soulier syndrome; Bernard-Soulier syndrome A2, autosomal dominant; von Willebrand disease, platelet-type 22 1 5 1988-04-01 P07737 PROF1_HUMAN PFN1 Profilin-1 140 15.1 17 Cytoplasm 0 1 Amyotrophic lateral sclerosis 18 22 1 5 1988-08-01 P12830 CADH1_HUMAN CDH1 Cadherin-1 882 97.5 16 Cell junction; Cell membrane; Endosome; Golgi apparatus; Cytoplasm 1 5 Diffuse gastric and lobular breast cancer syndrome; Endometrial cancer; Ovarian cancer; Breast cancer, lobular; Blepharocheilodontic syndrome 1 22 1 5 1989-10-01 P14920 OXDA_HUMAN DAO D-amino-acid oxidase 347 39.5 12 1.4.3.3 Peroxisome matrix; Cytoplasm; Presynaptic active zone; Secreted 0 2 Schizophrenia; Amyotrophic lateral sclerosis 22 1 5 1990-04-01 P16410 CTLA4_HUMAN CTLA4 Cytotoxic T-lymphocyte protein 4 223 24.7 2 Cell membrane 1 1 Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation 22 1 5 1990-08-01 P43005 EAA3_HUMAN SLC1A1 Excitatory amino acid transporter 3 524 57.1 9 Cell membrane; Apical cell membrane; Synapse; Early endosome membrane; Late endosome membrane; Recycling endosome membrane 8 2 Dicarboxylic aminoaciduria; Schizophrenia 18 22 1 5 1995-11-01 P48775 T23O_HUMAN TDO2 Tryptophan 2,3-dioxygenase 406 47.9 4 1.13.11.11 0 1 Hypertryptophanemia 22 1 5 1996-02-01 P49643 PRI2_HUMAN PRIM2 DNA primase large subunit 509 58.8 6 0 0 22 1 5 1996-02-01 P49761 CLK3_HUMAN CLK3 Dual specificity protein kinase CLK3 490 58.6 15 2.7.12.1 Nucleus; Cytoplasm; Cytoplasmic vesicle 0 0 22 1 5 1996-10-01 Q86TU7 SETD3_HUMAN SETD3 Actin-histidine N-methyltransferase 594 67.3 14 2.1.1.85 Cytoplasm; Nucleus 0 0 22 1 5 2006-10-31 Q8NB16 MLKL_HUMAN MLKL Mixed lineage kinase domain-like protein 471 54.5 16 Cytoplasm; Cell membrane; Nucleus 0 0 22 1 5 2006-09-05 Q96DE5 APC16_HUMAN ANAPC16 Anaphase-promoting complex subunit 16 110 11.7 10 Cytoplasm; Nucleus; Chromosome 0 0 22 1 5 2005-07-19 Q9NR09 BIRC6_HUMAN BIRC6 Dual E2 ubiquitin-conjugating enzyme/E3 ubiquitin-protein ligase BIRC6 4857 530.3 2 2.3.2.24 Golgi apparatus; Endosome; Cytoplasm; Midbody 0 0 22 1 5 2001-01-24 O14936 CSKP_HUMAN CASK Peripheral plasma membrane protein CASK 926 105.1 X 2.7.11.1 Nucleus; Cytoplasm; Cell membrane 0 2 Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia; FG syndrome 4 22 1 5 1999-07-15 O15514 RPB4_HUMAN POLR2D DNA-directed RNA polymerase II subunit RPB4 142 16.3 2 Nucleus 0 0 22 1 5 1998-07-15 O96028 NSD2_HUMAN NSD2 Histone-lysine N-methyltransferase NSD2 1365 152.3 4 2.1.1.357 Nucleus; Chromosome 0 1 Rauch-Steindl syndrome 22 1 5 2006-10-31 P10145 IL8_HUMAN CXCL8 Interleukin-8 99 11.1 4 Secreted 0 0 22 1 5 1989-07-01 P24864 CCNE1_HUMAN CCNE1 G1/S-specific cyclin-E1 410 47.1 19 Nucleus 0 0 22 1 5 1992-03-01 P26718 NKG2D_HUMAN KLRK1 NKG2-D type II integral membrane protein 216 25.3 12 Cell membrane 1 0 22 1 5 1992-08-01 P61981 1433G_HUMAN YWHAG 14-3-3 protein gamma 247 28.3 7 Cytoplasm; Mitochondrion matrix 0 1 Developmental and epileptic encephalopathy 56 22 1 5 2004-06-07 Q9HC16 ABC3G_HUMAN APOBEC3G DNA dC->dU-editing enzyme APOBEC-3G 384 46.4 22 3.5.4.38 Cytoplasm; Nucleus 0 0 22 1 5 2004-03-01 Q9NRX1 PNO1_HUMAN PNO1 RNA-binding protein PNO1 252 27.9 2 Nucleus 0 0 22 1 5 2007-01-09 Q9UJ71 CLC4K_HUMAN CD207 C-type lectin domain family 4 member K 328 36.7 2 Membrane 1 1 Birbeck granule deficiency 22 1 5 2006-02-21 Q9UQM7 KCC2A_HUMAN CAMK2A Calcium/calmodulin-dependent protein kinase type II subunit alpha 478 54.1 5 2.7.11.17 Synapse; Postsynaptic density; Cell projection 0 2 Intellectual developmental disorder, autosomal dominant 53; Intellectual developmental disorder, autosomal recessive 63 22 1 5 2002-04-16 P19235 EPOR_HUMAN EPOR Erythropoietin receptor 508 55.1 19 Cell membrane 1 1 Erythrocytosis, familial, 1 22 1 5 1990-11-01 P23443 KS6B1_HUMAN RPS6KB1 Ribosomal protein S6 kinase beta-1 525 59.1 17 2.7.11.1 Synapse; Mitochondrion outer membrane; Mitochondrion 0 0 22 1 5 1991-11-01 P53041 PPP5_HUMAN PPP5C Serine/threonine-protein phosphatase 5 499 56.9 19 3.1.3.16 Nucleus; Cytoplasm; Cell membrane 0 0 22 1 5 1996-10-01 P63010 AP2B1_HUMAN AP2B1 AP-2 complex subunit beta 937 104.6 17 Cell membrane; Membrane 0 0 22 1 5 2004-08-31 P78352 DLG4_HUMAN DLG4 Disks large homolog 4 724 80.5 17 Cell membrane; Postsynaptic density; Synapse; Cytoplasm; Cell projection; Presynapse 0 1 Intellectual developmental disorder, autosomal dominant 62 22 1 5 1997-11-01 Q03518 TAP1_HUMAN TAP1 Antigen peptide transporter 1 748 81 6 7.4.2.14 Endoplasmic reticulum membrane 10 1 MHC class I deficiency 1 22 1 5 1994-06-01 Q6IAA8 LTOR1_HUMAN LAMTOR1 Ragulator complex protein LAMTOR1 161 17.7 11 Lysosome membrane; Late endosome membrane 0 0 22 1 5 2007-02-06 Q8N122 RPTOR_HUMAN RPTOR Regulatory-associated protein of mTOR 1335 149 17 Lysosome membrane; Cytoplasm; Cytoplasmic granule 0 0 22 1 5 2004-04-26 Q9NPC2 KCNK9_HUMAN KCNK9 Potassium channel subfamily K member 9 374 42.3 8 Cell membrane; Mitochondrion inner membrane; Cell projection 4 1 Birk-Barel syndrome 22 1 5 2001-04-27 Q9Y2Q5 LTOR2_HUMAN LAMTOR2 Ragulator complex protein LAMTOR2 125 13.5 1 Late endosome membrane; Lysosome membrane 0 1 Immunodeficiency due to defect in MAPBP-interacting protein 22 1 5 2001-01-24 P15813 CD1D_HUMAN CD1D Antigen-presenting glycoprotein CD1d 335 37.7 1 Cell membrane; Basolateral cell membrane; Endosome membrane; Lysosome membrane; Endoplasmic reticulum membrane 1 0 22 1 5 1990-04-01 P37173 TGFR2_HUMAN TGFBR2 TGF-beta receptor type-2 567 64.6 3 2.7.11.30 Cell membrane; Membrane raft 1 3 Hereditary non-polyposis colorectal cancer 6; Esophageal cancer; Loeys-Dietz syndrome 2 22 1 5 1994-10-01 P38919 IF4A3_HUMAN EIF4A3 Eukaryotic initiation factor 4A-III 411 46.9 17 3.6.4.13 Nucleus; Nucleus speckle; Cytoplasm 0 1 Richieri-Costa-Pereira syndrome 22 1 5 1995-02-01 P62487 RPB7_HUMAN POLR2G DNA-directed RNA polymerase II subunit RPB7 172 19.3 11 Nucleus 0 0 22 1 5 2004-07-19 Q05193 DYN1_HUMAN DNM1 Dynamin-1 864 97.4 9 3.6.5.5 Cell membrane; Membrane; Cytoplasmic vesicle; Presynapse 0 2 Developmental and epileptic encephalopathy 31A; Developmental and epileptic encephalopathy 31B 22 1 5 1994-02-01 Q13362 2A5G_HUMAN PPP2R5C Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform 524 61.1 14 Nucleus; Chromosome 0 1 Houge-Janssens syndrome 4 22 1 5 2000-05-30 Q15661 TRYB1_HUMAN TPSAB1 Tryptase alpha/beta-1 275 30.5 16 3.4.21.59 Secreted 0 0 22 1 5 2001-10-18 Q9H9B1 EHMT1_HUMAN EHMT1 Histone-lysine N-methyltransferase EHMT1 1298 141.5 9 2.1.1.-, 2.1.1.367 Nucleus; Chromosome 0 1 Kleefstra syndrome 1 22 1 5 2002-11-15 O14745 NHRF1_HUMAN NHERF1 Na(+)/H(+) exchange regulatory cofactor NHE-RF1 358 38.9 17 Cytoplasm; Apical cell membrane; Endomembrane system; Cell projection 0 1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2 22 1 5 2004-02-02 O75934 SPF27_HUMAN BCAS2 Pre-mRNA-splicing factor SPF27 225 26.1 1 Nucleus 0 0 22 1 5 2005-05-10 P03952 KLKB1_HUMAN KLKB1 Plasma kallikrein 638 71.3 4 3.4.21.34 Secreted 0 1 Prekallikrein deficiency 22 1 5 1986-10-23 P05556 ITB1_HUMAN ITGB1 Integrin beta-1 798 88.4 10 Cell membrane; Cell projection; Recycling endosome; Melanosome; Cleavage furrow; Cell junction 1 0 22 1 5 1988-11-01 P28062 PSB8_HUMAN PSMB8 Proteasome subunit beta type-8 276 30.4 6 3.4.25.1 Cytoplasm; Nucleus 0 1 Proteasome-associated autoinflammatory syndrome 1 22 1 5 1992-08-01 Q00534 CDK6_HUMAN CDK6 Cyclin-dependent kinase 6 326 36.9 7 2.7.11.22 Cytoplasm; Nucleus; Cell projection 0 1 Microcephaly 12, primary, autosomal recessive 22 1 5 1993-04-01 Q04656 ATP7A_HUMAN ATP7A Copper-transporting ATPase 1 1500 163.4 X 7.2.2.8 Golgi apparatus; Cell membrane; Melanosome membrane; Early endosome membrane; Cell projection; Postsynaptic density 8 3 Menkes disease; Occipital horn syndrome; Neuronopathy, distal hereditary motor, X-linked 22 1 5 1994-06-01 Q9HAW0 BRF2_HUMAN BRF2 Transcription factor IIIB 50 kDa subunit 419 46.5 8 Nucleus 0 0 22 1 5 2008-05-20 Q9NZD2 GLTP_HUMAN GLTP Glycolipid transfer protein 209 23.9 12 Cytoplasm 0 0 22 1 5 2002-03-27 P02511 CRYAB_HUMAN CRYAB Alpha-crystallin B chain 175 20.2 11 Cytoplasm; Nucleus; Secreted; Lysosome 0 4 Myopathy, myofibrillar, 2A, adult-onset; Cataract 16, multiple types; Myopathy, myofibrillar, 2B, infantile-onset; Cardiomyopathy, dilated, 1II 21 1 5 1986-07-21 P04406 G3P_HUMAN GAPDH Glyceraldehyde-3-phosphate dehydrogenase 335 36.1 12 1.2.1.12 Cytoplasm; Nucleus; Membrane 0 0 21 1 5 1986-07-21 P09884 DPOLA_HUMAN POLA1 DNA polymerase alpha catalytic subunit 1462 165.9 X 2.7.7.7 Nucleus; Cytoplasm 0 2 Pigmentary disorder, reticulate, with systemic manifestations, X-linked; Van Esch-O'Driscoll syndrome 21 1 5 1989-07-01 P16455 MGMT_HUMAN MGMT Methylated-DNA--protein-cysteine methyltransferase 207 21.6 10 2.1.1.63 Nucleus 0 0 21 1 5 1990-08-01 P63098 CANB1_HUMAN PPP3R1 Calcineurin subunit B type 1 170 19.3 2 Cytoplasm; Cell membrane 0 0 21 1 5 1988-01-01 P68036 UB2L3_HUMAN UBE2L3 Ubiquitin-conjugating enzyme E2 L3 154 17.9 22 2.3.2.23 Nucleus; Cytoplasm 0 0 21 1 5 2004-10-11 Q08209 PP2BA_HUMAN PPP3CA Protein phosphatase 3 catalytic subunit alpha 521 58.7 4 3.1.3.16 Cytoplasm; Cell membrane; Cell projection 0 2 Epileptic encephalopathy, infantile or early childhood, 1; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 21 1 5 1996-02-01 Q13042 CDC16_HUMAN CDC16 Cell division cycle protein 16 homolog 620 71.7 13 Cytoplasm 0 0 21 1 5 2003-10-03 Q8N7H5 PAF1_HUMAN PAF1 RNA polymerase II-associated factor 1 homolog 531 60 19 Nucleus 0 0 21 1 5 2008-04-08 Q8NHZ8 CDC26_HUMAN CDC26 Anaphase-promoting complex subunit CDC26 85 9.8 9 Nucleus 0 0 21 1 5 2007-01-09 Q92794 KAT6A_HUMAN KAT6A Histone acetyltransferase KAT6A 2004 225 8 2.3.1.48 Nucleus 0 1 Arboleda-Tham syndrome 21 1 5 1998-07-15 Q9UNE7 CHIP_HUMAN STUB1 E3 ubiquitin-protein ligase CHIP 303 34.9 16 2.3.2.27 Cytoplasm; Nucleus; Mitochondrion 0 2 Spinocerebellar ataxia, autosomal recessive, 16; Spinocerebellar ataxia 48 21 1 5 2005-10-25 O43809 CPSF5_HUMAN NUDT21 Cleavage and polyadenylation specificity factor subunit 5 227 26.2 16 Nucleus; Cytoplasm 0 0 21 1 5 2006-02-07 P07437 TBB5_HUMAN TUBB Tubulin beta chain 444 49.7 6 Cytoplasm 0 2 Cortical dysplasia, complex, with other brain malformations 6; Skin creases, congenital symmetric circumferential, 1 21 1 5 1987-08-13 P07858 CATB_HUMAN CTSB Cathepsin B 339 37.8 8 3.4.22.1 Lysosome; Melanosome; Secreted; Apical cell membrane 0 1 Keratolytic winter erythema 21 1 5 1988-08-01 P12955 PEPD_HUMAN PEPD Xaa-Pro dipeptidase 493 54.5 19 3.4.13.9 0 1 Prolidase deficiency 21 1 5 1990-01-01 P23919 KTHY_HUMAN DTYMK Thymidylate kinase 212 23.8 2 2.7.4.9 0 1 Neurodegeneration, childhood-onset, with progressive microcephaly 21 1 5 1992-03-01 P49711 CTCF_HUMAN CTCF Transcriptional repressor CTCF 727 82.8 16 Nucleus; Chromosome 0 1 Intellectual developmental disorder, autosomal dominant 21 21 1 5 1996-10-01 P52435 RPB11_HUMAN POLR2J DNA-directed RNA polymerase II subunit RPB11-a 117 13.3 7 Nucleus 0 0 21 1 5 1996-10-01 P52565 GDIR1_HUMAN ARHGDIA Rho GDP-dissociation inhibitor 1 204 23.2 17 Cytoplasm 0 1 Nephrotic syndrome 8 21 1 5 1996-10-01 Q03519 TAP2_HUMAN TAP2 Antigen peptide transporter 2 686 75.7 6 7.4.2.14 Endoplasmic reticulum membrane 9 1 MHC class I deficiency 2 21 1 5 1994-06-01 Q13569 TDG_HUMAN TDG G/T mismatch-specific thymine DNA glycosylase 410 46.1 12 3.2.2.29 Nucleus 0 0 21 1 5 1998-12-15 Q16186 ADRM1_HUMAN ADRM1 Proteasomal ubiquitin receptor ADRM1 407 42.2 20 Cytoplasm; Nucleus 0 0 21 1 5 1997-11-01 Q6PD62 CTR9_HUMAN CTR9 RNA polymerase-associated protein CTR9 homolog 1173 133.5 11 Nucleus speckle 0 0 21 1 5 2006-04-04 Q92876 KLK6_HUMAN KLK6 Kallikrein-6 244 26.9 19 3.4.21.- Secreted; Nucleus; Cytoplasm; Mitochondrion; Microsome 0 0 21 1 5 1998-12-15 Q92973 TNPO1_HUMAN TNPO1 Transportin-1 898 102.4 5 Cytoplasm; Nucleus 0 0 21 1 5 1997-11-01 Q96GG9 DCNL1_HUMAN DCUN1D1 DCN1-like protein 1 259 30.1 3 Nucleus; Cytoplasm 0 0 21 1 5 2005-08-30 Q99816 TS101_HUMAN TSG101 Tumor susceptibility gene 101 protein 390 43.9 11 Cytoplasm; Early endosome membrane; Late endosome membrane; Midbody; Nucleus 0 0 21 1 5 2000-12-01 Q9UBN7 HDAC6_HUMAN HDAC6 Protein deacetylase HDAC6 1215 131.4 X 3.5.1.- Cytoplasm; Nucleus; Perikaryon; Cell projection 0 1 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 21 1 5 2000-12-01 Q9UBQ0 VPS29_HUMAN VPS29 Vacuolar protein sorting-associated protein 29 182 20.5 12 Cytoplasm; Membrane; Endosome membrane; Early endosome; Late endosome 0 0 21 1 5 2002-11-25 O43175 SERA_HUMAN PHGDH D-3-phosphoglycerate dehydrogenase 533 56.7 1 1.1.1.95 0 2 Phosphoglycerate dehydrogenase deficiency; Neu-Laxova syndrome 1 21 1 5 1999-07-15 P05161 ISG15_HUMAN ISG15 Ubiquitin-like protein ISG15 165 17.9 1 Cytoplasm; Secreted 0 1 Immunodeficiency 38, with basal ganglia calcification 21 1 5 1987-08-13 P12643 BMP2_HUMAN BMP2 Bone morphogenetic protein 2 396 44.7 20 Secreted 0 2 Brachydactyly A2; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 21 1 5 1989-10-01 P22736 NR4A1_HUMAN NR4A1 Nuclear receptor subfamily 4immunitygroup A member 1 598 64.5 12 Nucleus; Cytoplasm; Mitochondrion 0 0 21 1 5 1991-08-01 P23141 EST1_HUMAN CES1 Liver carboxylesterase 1 567 62.5 16 Endoplasmic reticulum lumen; Cytoplasm; Lipid droplet 0 0 21 1 5 1991-11-01 P55884 EIF3B_HUMAN EIF3B Eukaryotic translation initiation factor 3 subunit B 814 92.5 7 Cytoplasm 0 0 21 1 5 1997-11-01 Q53GS9 UBP39_HUMAN USP39 Ubiquitin carboxyl-terminal hydrolase 39 565 65.4 2 3.4.19.12 Nucleus 0 0 21 1 5 2006-02-21 Q7L523 RRAGA_HUMAN RRAGA Ras-related GTP-binding protein A 313 36.6 9 3.6.5.- Cytoplasm; Nucleus; Lysosome membrane 0 0 21 1 5 2006-06-13 Q9NPB1 NT5M_HUMAN NT5M 5'(3')-deoxyribonucleotidase, mitochondrial 228 25.9 17 3.1.3.- Mitochondrion 0 0 21 1 5 2003-10-31 Q9UJX3 APC7_HUMAN ANAPC7 Anaphase-promoting complex subunit 7 565 63.1 12 Cytoplasm; Nucleus 0 1 Ferguson-Bonni neurodevelopmental syndrome 21 1 5 2003-10-03 Q9UL62 TRPC5_HUMAN TRPC5 Short transient receptor potential channel 5 973 111.4 X Cell membrane 6 0 21 1 5 2000-12-01 Q9UPY3 DICER_HUMAN DICER1 Endoribonuclease Dicer 1922 218.7 14 3.1.26.3 Cytoplasm 0 4 Pleuropulmonary blastoma; Goiter multinodular 1, with or without Sertoli-Leydig cell tumors; Rhabdomyosarcoma, embryonal, 2; Global developmental delay, lung cysts, overgrowth, and Wilms tumor 21 1 5 2002-10-25 Q9Y6A2 CP46A_HUMAN CYP46A1 Cholesterol 24-hydroxylase 500 56.8 14 1.14.14.25 Endoplasmic reticulum membrane; Microsome membrane; Postsynapse; Presynapse; Cell projection 1 0 21 1 5 2001-01-24 O15164 TIF1A_HUMAN TRIM24 Transcription intermediary factor 1-alpha 1050 116.8 7 2.3.2.27 Nucleus; Cytoplasm; Mitochondrion 0 0 21 1 5 1999-07-15 O96019 ACL6A_HUMAN ACTL6A Actin-like protein 6A 429 47.5 3 Nucleus 0 0 21 1 5 2002-09-19 P01019 ANGT_HUMAN AGT Angiotensinogen 476 52.1 1 Secreted 0 2 Essential hypertension; Renal tubular dysgenesis 21 1 5 1986-07-21 P19387 RPB3_HUMAN POLR2C DNA-directed RNA polymerase II subunit RPB3 275 31.4 16 Nucleus 0 0 21 1 5 1990-11-01 P21453 S1PR1_HUMAN S1PR1 Sphingosine 1-phosphate receptor 1 382 42.8 1 Cell membrane; Endosome; Membrane raft 7 0 21 1 5 1991-05-01 P24821 TENA_HUMAN TNC Tenascin 2201 240.9 9 Secreted 0 1 Deafness, autosomal dominant, 56 21 1 5 1992-03-01 P36954 RPB9_HUMAN POLR2I DNA-directed RNA polymerase II subunit RPB9 125 14.5 19 Nucleus 0 0 21 1 5 1994-06-01 P43034 LIS1_HUMAN PAFAH1B1 Platelet-activating factor acetylhydrolase IB subunit beta 410 46.6 17 Cytoplasm; Nucleus membrane 0 3 Lissencephaly 1; Subcortical band heterotopia; Miller-Dieker lissencephaly syndrome 21 1 5 1995-11-01 P63167 DYL1_HUMAN DYNLL1 Dynein light chain 1, cytoplasmic 89 10.4 12 Cytoplasm; Chromosome; Nucleus; Mitochondrion 0 0 21 1 5 2004-09-27 Q12756 KIF1A_HUMAN KIF1A Kinesin-like protein KIF1A 1690 191.1 2 5.6.1.3 Cytoplasm; Cell projection; Synapse; Cytoplasmic vesicle 0 4 Spastic paraplegia 30A, autosomal dominant; Spastic paraplegia 30B, autosomal recessive; Neuropathy, hereditary sensory, 2C; NESCAV syndrome 21 1 5 1997-11-01 Q58F21 BRDT_HUMAN BRDT Bromodomain testis-specific protein 947 108 1 Nucleus 0 1 Spermatogenic failure 21 21 1 5 2006-05-30 Q9BVP2 GNL3_HUMAN GNL3 Guanine nucleotide-binding protein-like 3 549 62 3 Nucleus 0 0 21 1 5 2005-04-12 Q9H1A4 APC1_HUMAN ANAPC1 Anaphase-promoting complex subunit 1 1944 216.5 2 0 1 Rothmund-Thomson syndrome 1 21 1 5 2003-10-03 Q9HB90 RRAGC_HUMAN RRAGC Ras-related GTP-binding protein C 399 44.2 1 3.6.5.- Cytoplasm; Nucleus; Lysosome membrane 0 1 Long-Olsen-Distelmaier syndrome 21 1 5 2006-06-13 Q9UJX5 APC4_HUMAN ANAPC4 Anaphase-promoting complex subunit 4 808 92.1 4 Nucleus 0 0 21 1 5 2003-10-03 A5YKK6 CNOT1_HUMAN CNOT1 CCR4-NOT transcription complex subunit 1 2376 266.9 16 Cytoplasm; Nucleus 0 2 Holoprosencephaly 12 with or without pancreatic agenesis; Vissers-Bodmer syndrome 21 1 5 2008-01-15 O43314 VIP2_HUMAN PPIP5K2 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 1243 140.4 5 2.7.4.24 Cytoplasm 0 1 Deafness, autosomal recessive, 100 21 1 5 2008-01-15 O60260 PRKN_HUMAN PRKN E3 ubiquitin-protein ligase parkin 465 51.6 6 2.3.2.31 Cytoplasm; Nucleus; Endoplasmic reticulum; Mitochondrion; Mitochondrion outer membrane; Cell projection; Postsynaptic density; Presynapse 0 2 Parkinson disease; Parkinson disease 2 21 1 5 2004-10-11 O75116 ROCK2_HUMAN ROCK2 Rho-associated protein kinase 2 1388 160.9 2 2.7.11.39 Cytoplasm; Cell membrane; Nucleus 0 0 21 1 5 2004-05-24 P14921 ETS1_HUMAN ETS1 Protein C-ets-1 441 50.4 11 Nucleus; Cytoplasm 0 0 21 1 5 1990-04-01 P16157 ANK1_HUMAN ANK1 Ankyrin-1 1881 206.3 8 Cytoplasm 0 1 Spherocytosis 1 21 1 5 1990-04-01 P17752 TPH1_HUMAN TPH1 Tryptophan 5-hydroxylase 1 444 51 11 1.14.16.4 0 0 21 1 5 1990-08-01 P61006 RAB8A_HUMAN RAB8A Ras-related protein Rab-8A 207 23.7 19 3.6.5.2 Cell membrane; Golgi apparatus; Endosome membrane; Recycling endosome membrane; Cell projection; Cytoplasmic vesicle; Cytoplasm; Midbody; Lysosome 0 0 21 1 5 2004-04-26 Q01650 LAT1_HUMAN SLC7A5 Large neutral amino acids transporter small subunit 1 507 55 16 Apical cell membrane; Cell membrane; Lysosome membrane 12 0 21 1 5 1994-06-01 Q9UJM8 HAOX1_HUMAN HAO1 2-Hydroxyacid oxidase 1 370 40.9 20 1.1.3.15 Peroxisome matrix 0 0 21 1 5 2001-02-21 Q9UM13 APC10_HUMAN ANAPC10 Anaphase-promoting complex subunit 10 185 21.3 4 0 0 21 1 5 2003-08-29 O15169 AXIN1_HUMAN AXIN1 Axin-1 862 95.6 16 Cytoplasm; Nucleus; Membrane; Cell membrane; Late endosome 0 3 Hepatocellular carcinoma; Caudal duplication anomaly; Craniometadiaphyseal osteosclerosis with hip dysplasia 20 1 5 2000-12-01 P19634 SL9A1_HUMAN SLC9A1 Sodium/hydrogen exchanger 1 815 90.8 1 Cell membrane; Basolateral cell membrane 13 1 Lichtenstein-Knorr syndrome 20 1 5 1991-02-01 P25025 CXCR2_HUMAN CXCR2 C-X-C chemokine receptor type 2 360 40.8 2 Cell membrane 7 1 WHIM syndrome 2 20 1 5 1992-05-01 P25098 GRK2_HUMAN GRK2 G protein-coupled receptor kinase 2 689 79.6 11 2.7.11.16 Cytoplasm; Cell membrane; Cell projection; Postsynapse; Presynapse 0 0 20 1 5 1992-05-01 Q6FI13 H2A2A_HUMAN H2AC18 Histone H2A type 2-A 130 14.1 1 Nucleus; Chromosome 0 0 20 1 5 2005-12-20 Q8WVM7 STAG1_HUMAN STAG1 Cohesin subunit SA-1 1258 144.4 3 Nucleus; Chromosome 0 1 Intellectual developmental disorder, autosomal dominant 47 20 1 5 2003-03-25 Q96PC3 AP1S3_HUMAN AP1S3 AP-1 complex subunit sigma-3 154 18.3 2 Golgi apparatus; Cytoplasmic vesicle membrane; Membrane 0 1 Psoriasis 15, pustular 20 1 5 2002-06-20 Q96PU5 NED4L_HUMAN NEDD4L E3 ubiquitin-protein ligase NEDD4-like 975 111.9 18 2.3.2.26, 2.3.2.36 Cytoplasm; Golgi apparatus; Endosome 0 1 Periventricular nodular heterotopia 7 20 1 5 2005-08-30 Q9UJY5 GGA1_HUMAN GGA1 ADP-ribosylation factor-binding protein GGA1 639 70.4 22 Golgi apparatus; Endosome membrane; Early endosome membrane 0 0 20 1 5 2001-06-20 O15455 TLR3_HUMAN TLR3 Toll-like receptor 3 904 103.8 4 Endoplasmic reticulum membrane; Endosome membrane; Early endosome 1 1 Immunodeficiency 83, susceptibility to viral infections 20 1 5 2002-01-31 O60701 UGDH_HUMAN UGDH UDP-glucose 6-dehydrogenase 494 55 4 1.1.1.22 0 1 Developmental and epileptic encephalopathy 84 20 1 5 1998-12-15 P06401 PRGR_HUMAN PGR Progesterone receptor 933 99 11 Nucleus; Cytoplasm 0 0 20 1 5 1988-01-01 P09455 RET1_HUMAN RBP1 Retinol-binding protein 1 135 15.9 3 Cytoplasm; Lipid droplet 0 0 20 1 5 1989-07-01 P30876 RPB2_HUMAN POLR2B DNA-directed RNA polymerase II subunit RPB2 1174 133.9 4 2.7.7.6 Nucleus 0 0 20 1 5 1993-07-01 Q13951 PEBB_HUMAN CBFB Core-binding factor subunit beta 182 21.5 16 Nucleus 0 1 Cleidocranial dysplasia 2 20 1 5 1997-11-01 Q9BUH6 PAXX_HUMAN PAXX Protein PAXX 204 21.6 9 Nucleus; Chromosome 0 0 20 1 5 2007-05-01 Q9HD34 LYRM4_HUMAN LYRM4 LYR motif-containing protein 4 91 10.8 6 Mitochondrion; Nucleus 0 1 Combined oxidative phosphorylation deficiency 19 20 1 5 2004-04-26 Q9UJX2 CDC23_HUMAN CDC23 Cell division cycle protein 23 homolog 597 68.8 5 0 0 20 1 5 2003-10-03 Q9Y657 SPIN1_HUMAN SPIN1 Spindlin-1 262 29.6 9 Nucleus 0 0 20 1 5 2001-06-20 O60218 AK1BA_HUMAN AKR1B10 Aldo-keto reductase family 1 member B10 316 36 7 1.1.1.300, 1.1.1.54 Lysosome; Secreted 0 0 20 1 5 2002-05-10 P00439 PH4H_HUMAN PAH Phenylalanine-4-hydroxylase 452 51.9 12 1.14.16.1 0 1 Phenylalanine hydroxylase deficiency 20 1 5 1986-07-21 P29460 IL12B_HUMAN IL12B Interleukin-12 subunit beta 328 37.2 5 Secreted 0 2 Immunodeficiency 29; Psoriasis 11 20 1 5 1993-04-01 P40189 IL6RB_HUMAN IL6ST Interleukin-6 receptor subunit beta 918 103.5 5 Cell membrane 1 4 Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections; Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections; Stuve-Wiedemann syndrome 2; Immunodeficiency 94 with autoinflammation and dysmorphic facies 20 1 5 1995-02-01 P40967 PMEL_HUMAN PMEL Melanocyte protein PMEL 661 70.3 12 Endoplasmic reticulum membrane; Golgi apparatus; Endosome; Melanosome; Extracellular vesicle; Secreted 1 0 20 1 5 1995-02-01 P52948 NUP98_HUMAN NUP98 Nuclear pore complex protein Nup98-Nup96 1817 197.6 11 3.4.21.- Nucleus membrane; Nucleus 0 0 20 1 5 1996-10-01 Q13283 G3BP1_HUMAN G3BP1 Ras GTPase-activating protein-binding protein 1 466 52.2 5 3.6.4.12, 3.6.4.13 Cytoplasm; Perikaryon; Nucleus 0 0 20 1 5 2001-07-11 Q14116 IL18_HUMAN IL18 Interleukin-18 193 22.3 11 Cytoplasm; Secreted 0 0 20 1 5 1998-07-15 Q14832 GRM3_HUMAN GRM3 Metabotropic glutamate receptor 3 879 98.9 7 Cell membrane 7 0 20 1 5 1997-11-01 Q15465 SHH_HUMAN SHH Sonic hedgehog protein 462 49.6 7 3.1.-.- Endoplasmic reticulum membrane; Golgi apparatus membrane 0 7 Microphthalmia/Coloboma 5; Holoprosencephaly 3; Solitary median maxillary central incisor; Triphalangeal thumb with polysyndactyly; Preaxial polydactyly 2; Hypoplasia or aplasia of tibia with polydactyly; Laurin-Sandrow syndrome 20 1 5 1999-07-15 Q16873 LTC4S_HUMAN LTC4S Leukotriene C4 synthase 150 16.6 5 4.4.1.20 Nucleus outer membrane; Endoplasmic reticulum membrane; Nucleus membrane 4 0 20 1 5 1997-11-01 Q6P1J9 CDC73_HUMAN CDC73 Parafibromin 531 60.6 1 Nucleus 0 3 Hyperparathyroidism 1; Hyperparathyroidism 2 with jaw tumors; Parathyroid carcinoma 20 1 5 2005-12-20 O15118 NPC1_HUMAN NPC1 NPC intracellular cholesterol transporter 1 1278 142.2 18 Late endosome membrane; Lysosome membrane 13 1 Niemann-Pick disease C1 20 1 5 2000-05-30 O76021 RL1D1_HUMAN RSL1D1 Ribosomal L1 domain-containing protein 1 490 55 16 Nucleus 0 0 20 1 5 2005-04-26 P07602 SAP_HUMAN PSAP Prosaposin 524 58.1 10 Lysosome 0 5 Combined saposin deficiency; Metachromatic leukodystrophy due to saposin B deficiency; Gaucher disease, atypical, due to saposin C deficiency; Krabbe disease, atypical, due to saposin A deficiency; Parkinson disease 24, autosomal dominant 20 1 5 1988-04-01 P49913 CAMP_HUMAN CAMP Cathelicidin antimicrobial peptide 170 19.3 3 Secreted; Vesicle 0 0 20 1 5 1996-10-01 P62330 ARF6_HUMAN ARF6 ADP-ribosylation factor 6 175 20.1 14 3.6.5.2 Cytoplasm; Cell membrane; Endosome membrane; Recycling endosome membrane; Cell projection; Cleavage furrow; Midbody; Early endosome membrane; Golgi apparatus 0 0 20 1 5 2004-07-05 Q02880 TOP2B_HUMAN TOP2B DNA topoisomerase 2-beta 1626 183.3 3 5.6.2.2 Nucleus 0 1 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 20 1 5 1993-07-01 Q10567 AP1B1_HUMAN AP1B1 AP-1 complex subunit beta-1 949 104.6 22 Golgi apparatus; Cytoplasmic vesicle 0 1 Keratitis-ichthyosis-deafness syndrome, autosomal recessive 20 1 5 1996-10-01 Q8WVC0 LEO1_HUMAN LEO1 RNA polymerase-associated protein LEO1 666 75.4 15 Nucleus 0 0 20 1 5 2006-07-25 Q9H7E2 TDRD3_HUMAN TDRD3 Tudor domain-containing protein 3 651 73.2 13 Cytoplasm; Nucleus 0 0 20 1 5 2003-03-25 Q9UBF8 PI4KB_HUMAN PI4KB Phosphatidylinositol 4-kinase beta 816 91.4 1 2.7.1.67 Endomembrane system; Mitochondrion outer membrane; Rough endoplasmic reticulum membrane; Golgi apparatus; Golgi apparatus membrane; Cytoplasm 0 1 Deafness, autosomal dominant, 87 20 1 5 2003-11-14 Q9UJX4 APC5_HUMAN ANAPC5 Anaphase-promoting complex subunit 5 755 85.1 12 Nucleus; Cytoplasm 0 0 20 1 5 2003-10-03 Q9UK05 GDF2_HUMAN GDF2 Growth/differentiation factor 2 429 47.3 10 Secreted 0 1 Telangiectasia, hereditary hemorrhagic, 5 20 1 5 2001-02-21 Q9Y294 ASF1A_HUMAN ASF1A Histone chaperone ASF1A 204 23 6 Nucleus; Chromosome 0 0 20 1 5 2007-04-17 Q9Y468 LMBL1_HUMAN L3MBTL1 Lethal(3)malignant brain tumor-like protein 1 840 92.3 20 Nucleus 0 0 20 1 5 2002-09-19 O95486 SC24A_HUMAN SEC24A Protein transport protein Sec24A 1093 119.7 5 Cytoplasmic vesicle; Endoplasmic reticulum membrane; Cytoplasm 0 0 20 1 5 2001-02-21 P01137 TGFB1_HUMAN TGFB1 Transforming growth factor beta-1 proprotein 390 44.3 19 Secreted 0 2 Camurati-Engelmann disease 1; Inflammatory bowel disease, immunodeficiency, and encephalopathy 20 1 5 1986-07-21 P0DP24 CALM2_HUMAN CALM2 Calmodulin-2 149 16.8 14 Cytoplasm 0 1 Long QT syndrome 15 20 1 5 2017-05-10 P23470 PTPRG_HUMAN PTPRG Receptor-type tyrosine-protein phosphatase gamma 1445 162 3 3.1.3.48 Membrane 1 0 20 1 5 1991-11-01 P29590 PML_HUMAN PML Protein PML 882 97.6 15 Nucleus; Cytoplasm; Endoplasmic reticulum membrane; Early endosome membrane 0 0 20 1 5 1993-04-01 P49419 AL7A1_HUMAN ALDH7A1 Alpha-aminoadipic semialdehyde dehydrogenase 539 58.5 5 1.2.1.31 Mitochondrion 0 1 Epilepsy, early-onset, 4, vitamin B6-dependent 20 1 5 1996-02-01 P51570 GALK1_HUMAN GALK1 Galactokinase 392 42.3 17 2.7.1.6 0 1 Galactosemia 2 20 1 5 1996-10-01 Q9C029 TRIM7_HUMAN TRIM7 E3 ubiquitin-protein ligase TRIM7 511 56.6 5 2.3.2.27 Nucleus; Cytoplasm; Golgi apparatus 0 0 20 1 5 2002-06-06 Q9Y697 NFS1_HUMAN NFS1 Cysteine desulfurase 457 50.2 20 2.8.1.7 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 52 20 1 5 2001-04-27 O00444 PLK4_HUMAN PLK4 Serine/threonine-protein kinase PLK4 970 109 4 2.7.11.21 Cytoplasm; Nucleus; Cleavage furrow 0 1 Microcephaly and chorioretinopathy, autosomal recessive, 2 19 1 5 2004-08-16 O75821 EIF3G_HUMAN EIF3G Eukaryotic translation initiation factor 3 subunit G 320 35.6 19 Cytoplasm; Nucleus 0 0 19 1 5 2000-05-30 O95777 LSM8_HUMAN LSM8 U6 snRNA-associated Sm-like protein LSm8 96 10.4 7 Nucleus 0 0 19 1 5 2000-12-01 P41440 S19A1_HUMAN SLC19A1 Reduced folate transporter 591 64.9 21 Cell membrane; Apical cell membrane; Basolateral cell membrane 12 2 Megaloblastic anemia, folate-responsive; Immunodeficiency 114, folate-responsive 19 1 5 1995-11-01 P50213 IDH3A_HUMAN IDH3A Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial 366 39.6 15 1.1.1.41 Mitochondrion 0 1 Retinitis pigmentosa 90 19 1 5 1996-10-01 P62310 LSM3_HUMAN LSM3 U6 snRNA-associated Sm-like protein LSm3 102 11.8 3 Nucleus 0 0 19 1 5 2004-07-05 Q9BZV2 S19A3_HUMAN SLC19A3 Thiamine transporter 2 496 55.7 2 Membrane 12 1 Basal ganglia disease, biotin-thiamine responsive 19 1 5 2006-04-18 Q9HBA0 TRPV4_HUMAN TRPV4 Transient receptor potential cation channel subfamily V member 4 871 98.3 12 Cell membrane; Apical cell membrane; Cell junction; Cell projection 6 10 Brachyolmia 3; Spondylometaphyseal dysplasia Kozlowski type; Metatropic dysplasia; Neuronopathy, distal hereditary motor, autosomal dominant 8; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C; Scapuloperoneal spinal muscular atrophy; Spondyloepiphyseal dysplasia, Maroteaux type; Parastremmatic dwarfism; Digital arthropathy-brachydactyly, familial; Avascular necrosis of the femoral head, primary 2 19 1 5 2005-04-26 Q9Y5Z0 BACE2_HUMAN BACE2 Beta-secretase 2 518 56.2 21 3.4.23.45 Cell membrane; Golgi apparatus; Endoplasmic reticulum; Endosome; Melanosome 1 0 19 1 5 2000-05-30 O75832 PSD10_HUMAN PSMD10 26S proteasome non-ATPase regulatory subunit 10 226 24.4 X Cytoplasm; Nucleus 0 0 19 1 5 2002-05-10 P10253 LYAG_HUMAN GAA Lysosomal alpha-glucosidase 952 105.3 17 3.2.1.20 Lysosome; Lysosome membrane 0 2 Pompe disease, infantile-onset; Pompe disease, late-onset 19 1 5 1989-07-01 P30305 MPIP2_HUMAN CDC25B M-phase inducer phosphatase 2 580 65 20 3.1.3.48 Cytoplasm 0 0 19 1 5 1993-04-01 P35520 CBS_HUMAN CBS Cystathionine beta-synthase 551 60.6 21 4.2.1.22 Cytoplasm; Nucleus 0 1 Cystathionine beta-synthase deficiency 19 1 5 1994-06-01 P59665 DEF1_HUMAN DEFA1 Neutrophil defensin 1 94 10.2 8 Secreted 0 0 19 1 5 2003-04-30 P62312 LSM6_HUMAN LSM6 U6 snRNA-associated Sm-like protein LSm6 80 9.1 4 Cytoplasm; Nucleus 0 0 19 1 5 2004-07-05 Q07157 ZO1_HUMAN TJP1 Tight junction protein 1 1748 195.5 15 Cell membrane; Cell junction; Cell projection 0 0 19 1 5 1994-10-01 Q15306 IRF4_HUMAN IRF4 Interferon regulatory factor 4 451 51.8 6 Nucleus; Cytoplasm 0 2 Multiple myeloma; Immunodeficiency 131 19 1 5 1997-11-01 Q695T7 S6A19_HUMAN SLC6A19 Sodium-dependent neutral amino acid transporter B(0)AT1 634 71.1 5 Cell membrane; Apical cell membrane 12 3 Hartnup disorder; Hyperglycinuria; Iminoglycinuria 19 1 5 2005-08-30 Q9BS18 APC13_HUMAN ANAPC13 Anaphase-promoting complex subunit 13 74 8.5 3 Nucleus 0 0 19 1 5 2006-10-17 Q9Y333 LSM2_HUMAN LSM2 U6 snRNA-associated Sm-like protein LSm2 95 10.8 6 Nucleus 0 0 19 1 5 2000-12-01 O95619 YETS4_HUMAN YEATS4 YEATS domain-containing protein 4 227 26.5 12 Nucleus 0 0 19 1 5 2005-02-15 P06132 DCUP_HUMAN UROD Uroporphyrinogen decarboxylase 367 40.8 1 4.1.1.37 Cytoplasm 0 2 Familial porphyria cutanea tarda; Hepatoerythropoietic porphyria 19 1 5 1988-01-01 P06737 PYGL_HUMAN PYGL Glycogen phosphorylase, liver form 847 97.1 14 2.4.1.1 Cytoplasm 0 1 Glycogen storage disease 6 19 1 5 1988-01-01 P29973 CNGA1_HUMAN CNGA1 Cyclic nucleotide-gated channel alpha-1 686 79.1 4 Photoreceptor outer segment membrane; Cell membrane 7 1 Retinitis pigmentosa 49 19 1 5 1993-04-01 P61024 CKS1_HUMAN CKS1B Cyclin-dependent kinases regulatory subunit 1 79 9.7 1 0 0 19 1 5 2004-04-26 Q13371 PHLP_HUMAN PDCL Phosducin-like protein 301 34.3 9 Cell projection 0 0 19 1 5 1999-07-15 Q16595 FRDA_HUMAN FXN Frataxin, mitochondrial 210 23.1 9 1.16.3.1 Mitochondrion 0 1 Friedreich ataxia 19 1 5 1999-07-15 Q7Z6Z7 HUWE1_HUMAN HUWE1 E3 ubiquitin-protein ligase HUWE1 4374 481.9 X 2.3.2.26 Cytoplasm; Nucleus; Mitochondrion 0 1 Intellectual developmental disorder, X-linked, syndromic, Turner type 19 1 5 2004-07-19 Q8TAF3 WDR48_HUMAN WDR48 WD repeat-containing protein 48 677 76.2 3 Nucleus; Cytoplasm; Lysosome; Late endosome 0 0 19 1 5 2005-12-20 Q9UK45 LSM7_HUMAN LSM7 U6 snRNA-associated Sm-like protein LSm7 103 11.6 19 Nucleus 0 1 Leukodystrophy and cerebellar atrophy 19 1 5 2000-12-01 O00370 LORF2_HUMAN LINE-1 retrotransposable element ORF2 protein 1275 149 0 0 19 1 5 2014-01-22 O76090 BEST1_HUMAN BEST1 Bestrophin-1 585 67.7 11 Cell membrane; Basolateral cell membrane 4 4 Macular dystrophy, vitelliform, 2; Retinitis pigmentosa 50; Bestrophinopathy, autosomal recessive; Vitreoretinochoroidopathy 19 1 5 1999-07-15 P01042 KNG1_HUMAN KNG1 Kininogen-1 644 72 3 Secreted 0 2 High molecular weight kininogen deficiency; Angioedema, hereditary, 6 19 1 5 1986-07-21 P06400 RB_HUMAN RB1 Retinoblastoma-associated protein 928 106.2 13 Nucleus; Cytoplasm 0 3 Childhood cancer retinoblastoma; Bladder cancer; Osteogenic sarcoma 19 1 5 1988-01-01 P15291 B4GT1_HUMAN B4GALT1 Beta-1,4-galactosyltransferase 1 398 43.9 9 2.4.1.- Golgi apparatus 1 2 Congenital disorder of glycosylation 2D; Combined low LDL and fibrinogen 19 1 5 1990-04-01 P17302 CXA1_HUMAN GJA1 Gap junction alpha-1 protein 382 43 6 Cell membrane; Cell junction; Endoplasmic reticulum 4 8 Oculodentodigital dysplasia; Oculodentodigital dysplasia, autosomal recessive; Syndactyly 3; Hypoplastic left heart syndrome 1; Hallermann-Streiff syndrome; Craniometaphyseal dysplasia, autosomal recessive; Erythrokeratodermia variabilis et progressiva 3; Palmoplantar keratoderma and congenital alopecia 1 19 1 5 1990-08-01 P21730 C5AR1_HUMAN C5AR1 C5a anaphylatoxin chemotactic receptor 1 350 39.3 19 Cell membrane; Cytoplasmic vesicle 7 0 19 1 5 1991-05-01 P46527 CDN1B_HUMAN CDKN1B Cyclin-dependent kinase inhibitor 1B 198 22.1 12 Nucleus; Cytoplasm; Endosome 0 1 Multiple endocrine neoplasia 4 19 1 5 1995-11-01 P56373 P2RX3_HUMAN P2RX3 P2X purinoceptor 3 397 44.3 11 Cell membrane 2 0 19 1 5 1998-07-15 P56524 HDAC4_HUMAN HDAC4 Histone deacetylase 4 1084 119 2 3.5.1.98 Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with central hypotonia and dysmorphic facies 19 1 5 1998-07-15 P78417 GSTO1_HUMAN GSTO1 Glutathione S-transferase omega-1 241 27.6 10 2.5.1.18 Cytoplasm 0 0 19 1 5 1999-07-15 Q13507 TRPC3_HUMAN TRPC3 Short transient receptor potential channel 3 921 105.5 4 Cell membrane 6 1 Spinocerebellar ataxia 41 19 1 5 2000-12-01 Q6V1X1 DPP8_HUMAN DPP8 Dipeptidyl peptidase 8 898 103.4 15 3.4.14.5 Cytoplasm 0 0 19 1 5 2005-06-07 Q86T24 KAISO_HUMAN ZBTB33 Transcriptional regulator Kaiso 672 74.5 X Nucleus; Cytoplasm 0 0 19 1 5 2005-12-20 Q96AP0 ACD_HUMAN ACD Adrenocortical dysplasia protein homolog 458 49 16 Nucleus; Chromosome 0 2 Dyskeratosis congenita, autosomal dominant, 6; Dyskeratosis congenita, autosomal recessive, 7 19 1 5 2006-05-30 O75311 GLRA3_HUMAN GLRA3 Glycine receptor subunit alpha-3 464 53.8 4 Postsynaptic cell membrane; Perikaryon; Cell projection; Synapse; Cell membrane 4 0 19 1 5 1998-12-15 P08913 ADA2A_HUMAN ADRA2A Alpha-2A adrenergic receptor 465 50.6 10 Cell membrane 7 1 Lipodystrophy, familial partial, 8 19 1 5 1988-11-01 P22223 CADH3_HUMAN CDH3 Cadherin-3 829 91.4 16 Cell membrane 1 2 Hypotrichosis congenital with juvenile macular dystrophy; Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 19 1 5 1991-08-01 P23528 COF1_HUMAN CFL1 Cofilin-1 166 18.5 11 Nucleus matrix; Cytoplasm; Cell projection 0 0 19 1 5 1991-11-01 P31751 AKT2_HUMAN AKT2 RAC-beta serine/threonine-protein kinase 481 55.8 19 2.7.11.1 Cytoplasm; Nucleus; Cell membrane; Early endosome 0 2 Type 2 diabetes mellitus; Hypoinsulinemic hypoglycemia with hemihypertrophy 19 1 5 1993-07-01 Q13105 ZBT17_HUMAN ZBTB17 Zinc finger and BTB domain-containing protein 17 803 87.9 1 Nucleus 0 0 19 1 5 1998-07-15 Q16543 CDC37_HUMAN CDC37 Hsp90 co-chaperone Cdc37 378 44.5 19 Cytoplasm 0 0 19 1 5 2002-06-20 Q8WUM4 PDC6I_HUMAN PDCD6IP Programmed cell death 6-interacting protein 868 96 3 Cytoplasm; Melanosome; Secreted; Cell junction; Midbody 0 1 Microcephaly 29, primary, autosomal recessive 19 1 5 2003-05-23 Q9UBT6 POLK_HUMAN POLK DNA polymerase kappa 870 98.8 5 2.7.7.7 Nucleus 0 0 19 1 5 2005-02-15 Q9Y4Y9 LSM5_HUMAN LSM5 U6 snRNA-associated Sm-like protein LSm5 91 9.9 7 Nucleus 0 0 19 1 5 2000-12-01 Q9Y4Z0 LSM4_HUMAN LSM4 U6 snRNA-associated Sm-like protein LSm4 139 15.4 19 Nucleus 0 0 19 1 5 2000-12-01 P0CF51 TRGC1_HUMAN TRGC1 T cell receptor gamma constant 1 173 19.8 Cell membrane 1 0 19 1 3 2010-04-20 O00329 PK3CD_HUMAN PIK3CD Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform 1044 119.5 1 2.7.1.137, 2.7.1.153 Cytoplasm 0 3 Immunodeficiency 14A with lymphoproliferation, autosomal dominant; Immunodeficiency 14B, autosomal recessive; Roifman-Chitayat syndrome 18 1 5 1998-07-15 O60568 PLOD3_HUMAN PLOD3 Multifunctional procollagen lysine hydroxylase and glycosyltransferase LH3 738 84.8 7 Rough endoplasmic reticulum; Endoplasmic reticulum lumen; Endoplasmic reticulum membrane; Secreted 0 1 BCARD syndrome 18 1 5 1998-12-15 P13688 CEAM1_HUMAN CEACAM1 Cell adhesion molecule CEACAM1 526 57.6 19 Cell projection; Apical cell membrane 1 0 18 1 5 1990-01-01 P43629 KI3L1_HUMAN KIR3DL1 Killer cell immunoglobulin-like receptor 3DL1 444 49.1 19 Cell membrane 1 0 18 1 5 1995-11-01 Q09161 NCBP1_HUMAN NCBP1 Nuclear cap-binding protein subunit 1 790 91.8 9 Nucleus; Cytoplasm 0 0 18 1 5 1996-10-01 Q13158 FADD_HUMAN FADD FAS-associated death domain protein 208 23.3 11 Cytoplasm 0 1 Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations 18 1 5 1997-11-01 Q16533 SNPC1_HUMAN SNAPC1 snRNA-activating protein complex subunit 1 368 43 14 Nucleus 0 0 18 1 5 2000-05-30 Q6NS38 ALKB2_HUMAN ALKBH2 DNA oxidative demethylase ALKBH2 261 29.3 12 1.14.11.33 Nucleus 0 0 18 1 5 2006-05-30 Q92541 RTF1_HUMAN RTF1 RNA polymerase-associated protein RTF1 homolog 710 80.3 15 Nucleus 0 0 18 1 5 2006-10-31 Q9BSA9 TM175_HUMAN TMEM175 Endosomal/lysosomal proton channel TMEM175 504 55.6 4 Endosome membrane; Lysosome membrane 12 1 Parkinson disease 18 1 5 2007-04-03 Q9NQR1 KMT5A_HUMAN KMT5A N-lysine methyltransferase KMT5A 393 42.9 12 2.1.1.- Nucleus; Chromosome 0 0 18 1 5 2002-11-15 Q9Y2M0 FAN1_HUMAN FAN1 Fanconi-associated nuclease 1 1017 114.2 15 3.1.21.-, 3.1.4.1 Nucleus 0 1 Interstitial nephritis, karyomegalic 18 1 5 2007-11-13 P23368 MAOM_HUMAN ME2 NAD-dependent malic enzyme, mitochondrial 584 65.4 18 1.1.1.38 Mitochondrion matrix 0 0 18 1 5 1991-11-01 P48426 PI42A_HUMAN PIP4K2A Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha 406 46.2 10 2.7.1.149 Cell membrane; Nucleus; Lysosome; Cytoplasm; Photoreceptor inner segment; Cell projection 0 0 18 1 5 1996-02-01 P52298 NCBP2_HUMAN NCBP2 Nuclear cap-binding protein subunit 2 156 18 3 Nucleus; Cytoplasm 0 0 18 1 5 1996-10-01 P60006 APC15_HUMAN ANAPC15 Anaphase-promoting complex subunit 15 121 14.3 11 0 0 18 1 5 2003-11-14 P78540 ARGI2_HUMAN ARG2 Arginase-2, mitochondrial 354 38.6 14 3.5.3.1 Mitochondrion 0 0 18 1 5 1997-11-01 Q13126 MTAP_HUMAN MTAP S-methyl-5'-thioadenosine phosphorylase 283 31.2 9 2.4.2.28 Cytoplasm; Nucleus 0 1 Diaphyseal medullary stenosis with malignant fibrous histiocytoma 18 1 5 1997-11-01 Q14397 GCKR_HUMAN GCKR Glucokinase regulatory protein 625 68.7 2 Cytoplasm; Nucleus; Mitochondrion 0 0 18 1 5 1997-11-01 Q15554 TERF2_HUMAN TERF2 Telomeric repeat-binding factor 2 542 59.6 16 Nucleus; Chromosome 0 0 18 1 5 2002-06-20 Q4VCS5 AMOT_HUMAN AMOT Angiomotin 1084 118.1 X Cell junction 0 0 18 1 5 2005-09-27 Q5SXM2 SNPC4_HUMAN SNAPC4 snRNA-activating protein complex subunit 4 1469 159.4 9 Nucleus 0 1 Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction 18 1 5 2005-10-25 Q8N0V3 RBFA_HUMAN RBFA Putative ribosome-binding factor A, mitochondrial 343 38.4 18 Mitochondrion 0 0 18 1 5 2005-08-16 Q8NBK3 SUMF1_HUMAN SUMF1 Formylglycine-generating enzyme 374 40.6 3 1.8.3.7 Endoplasmic reticulum lumen 0 1 Multiple sulfatase deficiency 18 1 5 2003-07-25 Q9BV86 NTM1A_HUMAN NTMT1 N-terminal Xaa-Pro-Lys N-methyltransferase 1 223 25.4 9 2.1.1.244 Nucleus 0 0 18 1 5 2005-11-08 Q9ULZ3 ASC_HUMAN PYCARD Apoptosis-associated speck-like protein containing a CARD 195 21.6 16 Cytoplasm; Inflammasome; Endoplasmic reticulum; Mitochondrion; Nucleus 0 0 18 1 5 2001-10-18 P78410 BT3A2_HUMAN BTN3A2 Butyrophilin subfamily 3 member A2 334 36.4 6 Cell membrane 1 0 18 1 5 2005-02-01 Q01831 XPC_HUMAN XPC DNA repair protein complementing XP-C cells 940 106 3 Nucleus; Chromosome; Cytoplasm 0 1 Xeroderma pigmentosum complementation group C 18 1 5 1993-07-01 Q14653 IRF3_HUMAN IRF3 Interferon regulatory factor 3 427 47.2 19 Cytoplasm; Nucleus; Mitochondrion 0 1 Encephalopathy, acute, infection-induced, 7, herpes-specific 18 1 5 1997-11-01 Q8NE86 MCU_HUMAN MCU Calcium uniporter protein, mitochondrial 351 39.9 10 Mitochondrion inner membrane 2 0 18 1 5 2007-04-03 Q92743 HTRA1_HUMAN HTRA1 Serine protease HTRA1 480 51.3 10 3.4.21.- Cell membrane; Secreted; Cytoplasm 0 2 Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 18 1 5 2001-09-26 Q9H1K1 ISCU_HUMAN ISCU Iron-sulfur cluster assembly enzyme ISCU 167 18 12 Mitochondrion 0 1 Myopathy with exercise intolerance Swedish type 18 1 5 2005-04-26 Q9UBL9 P2RX2_HUMAN P2RX2 P2X purinoceptor 2 471 51.8 12 Cell membrane 2 1 Deafness, autosomal dominant, 41 18 1 5 2001-01-24 Q9Y5K2 KLK4_HUMAN KLK4 Kallikrein-4 254 27 19 3.4.21.- Secreted 0 1 Amelogenesis imperfecta, hypomaturation type, 2A1 18 1 5 2000-12-01 O95243 MBD4_HUMAN MBD4 Methyl-CpG-binding domain protein 4 580 66.1 3 3.2.2.- Nucleus 0 2 Tumor predisposition syndrome 2; Melanoma, uveal, 1 18 1 5 2004-07-19 O95819 M4K4_HUMAN MAP4K4 Mitogen-activated protein kinase kinase kinase kinase 4 1239 142.1 2 2.7.11.1 Cytoplasm 0 0 18 1 5 2003-03-28 P19474 RO52_HUMAN TRIM21 E3 ubiquitin-protein ligase TRIM21 475 54.2 11 2.3.2.27 Cytoplasm; Cytoplasmic vesicle; Nucleus 0 0 18 1 5 1991-02-01 P20839 IMDH1_HUMAN IMPDH1 Inosine-5'-monophosphate dehydrogenase 1 514 55.4 7 1.1.1.205 Cytoplasm; Nucleus 0 2 Retinitis pigmentosa 10; Leber congenital amaurosis 11 18 1 5 1991-02-01 P24530 EDNRB_HUMAN EDNRB Endothelin receptor type B 442 49.6 13 Cell membrane 7 3 Waardenburg syndrome 4A; Hirschsprung disease 2; ABCD syndrome 18 1 5 1992-03-01 Q07864 DPOE1_HUMAN POLE DNA polymerase epsilon catalytic subunit A 2286 261.5 12 2.7.7.7 Nucleus 0 3 Colorectal cancer 12; Facial dysmorphism, immunodeficiency, livedo, and short stature; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 18 1 5 1994-10-01 Q07912 ACK1_HUMAN TNK2 Activated CDC42 kinase 1 1038 114.6 3 2.7.10.2, 2.7.11.1 Cell membrane; Nucleus; Endosome; Cell junction; Cytoplasmic vesicle membrane; Cytoplasmic vesicle; Membrane; Cytoplasm 0 0 18 1 5 2003-10-24 Q14683 SMC1A_HUMAN SMC1A Structural maintenance of chromosomes protein 1A 1233 143.2 X Nucleus; Chromosome 0 2 Cornelia de Lange syndrome 2; Developmental and epileptic encephalopathy 85 with or without midline brain defects 18 1 5 2003-03-25 Q15819 UB2V2_HUMAN UBE2V2 Ubiquitin-conjugating enzyme E2 variant 2 145 16.4 8 0 0 18 1 5 2004-08-31 Q6ZN18 AEBP2_HUMAN AEBP2 Zinc finger protein AEBP2 517 54.5 12 Nucleus 0 0 18 1 5 2008-06-10 Q92556 ELMO1_HUMAN ELMO1 Engulfment and cell motility protein 1 727 83.8 7 Cytoplasm; Cell membrane 0 0 18 1 5 1997-11-01 O14684 PTGES_HUMAN PTGES Prostaglandin E synthase 152 17.1 9 5.3.99.3 Membrane; Cytoplasm 4 0 18 1 5 2000-05-30 O14980 XPO1_HUMAN XPO1 Exportin-1 1071 123.4 2 Cytoplasm; Nucleus 0 0 18 1 5 2005-06-21 O75385 ULK1_HUMAN ULK1 Serine/threonine-protein kinase ULK1 1050 112.6 12 2.7.11.1 Cytoplasm; Preautophagosomal structure 0 0 18 1 5 1999-07-15 P01215 GLHA_HUMAN CGA Glycoprotein hormones alpha chain 116 13.1 6 Secreted 0 0 18 1 5 1986-07-21 P23025 XPA_HUMAN XPA DNA repair protein complementing XP-A cells 273 31.4 9 Nucleus 0 1 Xeroderma pigmentosum complementation group A 18 1 5 1991-11-01 P35613 BASI_HUMAN BSG Basigin 385 42.2 19 Melanosome 1 0 18 1 5 1994-06-01 P49257 LMAN1_HUMAN LMAN1 Protein ERGIC-53 510 57.5 18 Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane 1 1 Factor V and factor VIII combined deficiency 1 18 1 5 1996-02-01 P53634 CATC_HUMAN CTSC Dipeptidyl peptidase 1 463 51.9 11 3.4.14.1 Lysosome 0 3 Papillon-Lefevre syndrome; Haim-Munk syndrome; Periodontititis, aggressive, 1 18 1 5 1996-10-01 Q16581 C3AR_HUMAN C3AR1 C3a anaphylatoxin chemotactic receptor 482 53.9 12 Cell membrane 7 0 18 1 5 1998-07-15 Q8IVW8 SPNS2_HUMAN SPNS2 Sphingosine-1-phosphate transporter SPNS2 549 58 17 Cell membrane; Endosome membrane 11 1 Deafness, autosomal recessive, 115 18 1 5 2007-10-02 Q8N1Q1 CAH13_HUMAN CA13 Carbonic anhydrase 13 262 29.4 8 4.2.1.1 Cytoplasm 0 0 18 1 5 2003-05-09 Q8TDY2 RBCC1_HUMAN RB1CC1 RB1-inducible coiled-coil protein 1 1594 183.1 8 Nucleus; Cytoplasm; Preautophagosomal structure; Lysosome 0 0 18 1 5 2005-11-22 Q92966 SNPC3_HUMAN SNAPC3 snRNA-activating protein complex subunit 3 411 46.8 9 Nucleus 0 0 18 1 5 2000-05-30 Q99538 LGMN_HUMAN LGMN Legumain 433 49.4 14 3.4.22.34 Lysosome 0 0 18 1 5 1997-11-01 Q9Y5N5 HEMK2_HUMAN HEMK2 Methyltransferase HEMK2 214 23 21 Nucleus 0 0 18 1 5 2000-05-30 Q9Y5S9 RBM8A_HUMAN RBM8A RNA-binding protein 8A 174 19.9 1 Nucleus; Nucleus speckle; Cytoplasm 0 1 Thrombocytopenia-absent radius syndrome 18 1 5 2000-12-01 A0A0K0K1A5 TVB65_HUMAN TRBV6-5 T cell receptor beta variable 6-5 114 12.4 7 Cell membrane 0 0 18 1 4 2018-04-25 O15269 SPTC1_HUMAN SPTLC1 Serine palmitoyltransferase 1 473 52.7 9 2.3.1.50 Endoplasmic reticulum membrane 1 2 Amyotrophic lateral sclerosis 27, juvenile; Neuropathy, hereditary sensory and autonomic, 1A 17 1 5 2000-05-30 O15554 KCNN4_HUMAN KCNN4 Intermediate conductance calcium-activated potassium channel protein 4 427 47.7 19 Cell membrane; Cell projection 6 1 Dehydrated hereditary stomatocytosis 2 17 1 5 2001-11-16 O75762 TRPA1_HUMAN TRPA1 Transient receptor potential cation channel subfamily A member 1 1119 127.5 8 Cell membrane 6 1 Episodic pain syndrome, familial, 1 17 1 5 2004-12-21 P08172 ACM2_HUMAN CHRM2 Muscarinic acetylcholine receptor M2 466 51.7 7 Cell membrane; Postsynaptic cell membrane 7 1 Major depressive disorder 17 1 5 1988-08-01 P24666 PPAC_HUMAN ACP1 Low molecular weight phosphotyrosine protein phosphatase 158 18 2 3.1.3.48 Cytoplasm 0 0 17 1 5 1992-03-01 P26447 S10A4_HUMAN S100A4 Protein S100-A4 101 11.7 1 Secreted; Nucleus; Cytoplasm 0 0 17 1 5 1992-08-01 P32241 VIPR1_HUMAN VIPR1 Vasoactive intestinal polypeptide receptor 1 457 51.5 3 Cell membrane 7 0 17 1 5 1993-10-01 Q14896 MYPC3_HUMAN MYBPC3 Myosin-binding protein C, cardiac-type 1274 140.8 11 0 3 Cardiomyopathy, familial hypertrophic, 4; Cardiomyopathy, dilated, 1MM; Left ventricular non-compaction 10 17 1 5 1999-07-15 Q16878 CDO1_HUMAN CDO1 Cysteine dioxygenase type 1 200 23 5 1.13.11.20 0 0 17 1 5 1997-11-01 Q8N5Z0 AADAT_HUMAN AADAT Kynurenine/alpha-aminoadipate aminotransferase, mitochondrial 425 47.4 4 Mitochondrion 0 0 17 1 5 2004-04-13 Q9Y6K9 NEMO_HUMAN IKBKG NF-kappa-B essential modulator 419 48.2 X Cytoplasm; Nucleus 0 4 Ectodermal dysplasia and immunodeficiency 1; Immunodeficiency 33; Incontinentia pigmenti; Autoinflammatory disease, systemic, X-linked 17 1 5 2000-05-30 O95563 MPC2_HUMAN MPC2 Mitochondrial pyruvate carrier 2 127 14.3 1 Mitochondrion inner membrane 3 0 17 1 5 2002-09-19 P05093 CP17A_HUMAN CYP17A1 Steroid 17-alpha-hydroxylase/17,20 lyase 508 57.4 10 1.14.14.19 Endoplasmic reticulum membrane; Microsome membrane 0 1 Adrenal hyperplasia 5 17 1 5 1987-08-13 P05305 EDN1_HUMAN EDN1 Endothelin-1 212 24.4 6 Secreted 0 2 Question mark ears, isolated; Auriculocondylar syndrome 3 17 1 5 1988-11-01 P15309 PPAP_HUMAN ACP3 Prostatic acid phosphatase 386 44.6 3 3.1.3.2 Secreted 1 0 17 1 5 1990-04-01 P30874 SSR2_HUMAN SSTR2 Somatostatin receptor type 2 369 41.3 17 Cell membrane; Cytoplasm 7 0 17 1 5 1993-07-01 P31946 1433B_HUMAN YWHAB 14-3-3 protein beta/alpha 246 28.1 20 Cytoplasm; Melanosome 0 0 17 1 5 1993-07-01 P55957 BID_HUMAN BID BH3-interacting domain death agonist 195 22 22 Cytoplasm; Mitochondrion membrane; Mitochondrion outer membrane 0 0 17 1 5 1997-11-01 Q53G59 KLH12_HUMAN KLHL12 Kelch-like protein 12 568 63.3 1 Cytoplasmic vesicle 0 0 17 1 5 2006-05-16 Q8NI22 MCFD2_HUMAN MCFD2 Multiple coagulation factor deficiency protein 2 146 16.4 2 Endoplasmic reticulum-Golgi intermediate compartment; Endoplasmic reticulum; Golgi apparatus 0 1 Factor V and factor VIII combined deficiency 2 17 1 5 2004-06-21 Q969W0 SPTSA_HUMAN SPTSSA Serine palmitoyltransferase small subunit A 71 8.5 14 Endoplasmic reticulum membrane 2 2 Spastic paraplegia 90A, autosomal dominant; Spastic paraplegia 90B, autosomal recessive 17 1 5 2005-07-05 Q9NYV8 T2R14_HUMAN TAS2R14 Taste receptor type 2 member 14 317 36.2 12 Membrane 7 0 17 1 5 2003-04-11 O15519 CFLAR_HUMAN CFLAR CASP8 and FADD-like apoptosis regulator 480 55.3 2 0 0 17 1 5 2000-12-01 O43741 AAKB2_HUMAN PRKAB2 5'-AMP-activated protein kinase subunit beta-2 272 30.3 1 0 0 17 1 5 1998-12-15 O95926 SYF2_HUMAN SYF2 Pre-mRNA-splicing factor SYF2 243 28.7 1 Nucleus 0 0 17 1 5 2006-09-19 P00748 FA12_HUMAN F12 Coagulation factor XII 615 67.8 5 3.4.21.38 Secreted 0 2 Factor XII deficiency; Angioedema, hereditary, 3 17 1 5 1986-07-21 P05231 IL6_HUMAN IL6 Interleukin-6 212 23.7 7 Secreted 0 1 Rheumatoid arthritis systemic juvenile 17 1 5 1987-08-13 P09622 DLDH_HUMAN DLD Dihydrolipoyl dehydrogenase, mitochondrial 509 54.2 7 1.8.1.4 Mitochondrion matrix; Nucleus; Cell projection; Cytoplasmic vesicle 0 1 Dihydrolipoamide dehydrogenase deficiency 17 1 5 1989-07-01 P12319 FCERA_HUMAN FCER1A High affinity immunoglobulin epsilon receptor subunit alpha 257 29.6 1 Cell membrane 1 0 17 1 5 1989-10-01 P23677 IP3KA_HUMAN ITPKA Inositol-trisphosphate 3-kinase A 461 51 15 2.7.1.127 Cytoplasm 0 0 17 1 5 1991-11-01 P54687 BCAT1_HUMAN BCAT1 Branched-chain-amino-acid aminotransferase, cytosolic 386 43 12 2.6.1.42 Cytoplasm 0 0 17 1 5 1996-10-01 Q06830 PRDX1_HUMAN PRDX1 Peroxiredoxin-1 199 22.1 1 1.11.1.24 Cytoplasm; Melanosome 0 0 17 1 5 1994-06-01 Q12834 CDC20_HUMAN CDC20 Cell division cycle protein 20 homolog 499 54.7 1 Cytoplasm; Chromosome 0 1 Oocyte/zygote/embryo maturation arrest 14 17 1 5 2003-10-03 Q9H165 BC11A_HUMAN BCL11A BCL11 transcription factor A 835 91.2 2 Cytoplasm; Nucleus; Chromosome 0 1 Intellectual developmental disorder with persistence of fetal hemoglobin 17 1 5 2004-03-01 O00244 ATOX1_HUMAN ATOX1 Copper transport protein ATOX1 68 7.4 5 Cytoplasm; Nucleus 0 0 17 1 5 2000-05-30 O00299 CLIC1_HUMAN CLIC1 Chloride intracellular channel protein 1 241 26.9 6 Nucleus; Nucleus membrane; Cytoplasm; Cell membrane; Endoplasmic reticulum 1 0 17 1 5 1998-07-15 O00629 IMA3_HUMAN KPNA4 Importin subunit alpha-3 521 57.9 3 Cytoplasm; Nucleus 0 0 17 1 5 1997-11-01 O75771 RA51D_HUMAN RAD51D DNA repair protein RAD51 homolog 4 328 35 17 Nucleus; Cytoplasm; Chromosome 0 1 Breast-ovarian cancer, familial, 4 17 1 5 1999-07-15 P02792 FRIL_HUMAN FTL Ferritin light chain 175 20 19 Cytoplasmic vesicle; Cytoplasm; Autolysosome 0 3 Hyperferritinemia with or without cataract; Neurodegeneration with brain iron accumulation 3; L-ferritin deficiency 17 1 5 1986-07-21 P12259 FA5_HUMAN F5 Coagulation factor V 2224 251.7 1 Secreted 0 5 Factor V deficiency; Thrombophilia due to activated protein C resistance; Budd-Chiari syndrome; Ischemic stroke; Pregnancy loss, recurrent, 1 17 1 5 1989-10-01 P13987 CD59_HUMAN CD59 CD59 glycoprotein 128 14.2 11 Cell membrane; Secreted 0 1 Hemolytic anemia, CD59-mediated, with or without polyneuropathy 17 1 5 1990-01-01 P21580 TNAP3_HUMAN TNFAIP3 Tumor necrosis factor alpha-induced protein 3 790 89.6 6 2.3.2.-, 3.4.19.12 Cytoplasm; Nucleus; Lysosome 0 1 Autoinflammatory syndrome, familial, Behcet-like 1 17 1 5 1991-05-01 P52292 IMA1_HUMAN KPNA2 Importin subunit alpha-1 529 57.9 17 Cytoplasm; Nucleus 0 0 17 1 5 1996-10-01 P54725 RD23A_HUMAN RAD23A Lysine-specific demethylase RAD23A 363 39.6 19 1.14.11.- Nucleus 0 0 17 1 5 1996-10-01 Q01469 FABP5_HUMAN FABP5 Fatty acid-binding protein 5 135 15.2 8 Cytoplasm; Nucleus; Synapse; Postsynaptic density; Secreted 0 0 17 1 5 1993-04-01 Q12824 SNF5_HUMAN SMARCB1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 385 44.1 22 Nucleus 0 3 Rhabdoid tumor predisposition syndrome 1; Schwannomatosis 1; Coffin-Siris syndrome 3 17 1 5 2000-12-01 Q15906 VPS72_HUMAN VPS72 Vacuolar protein sorting-associated protein 72 homolog 364 40.6 1 Nucleus 0 0 17 1 5 1997-11-01 Q99523 SORT_HUMAN SORT1 Sortilin 831 92.1 1 Golgi apparatus; Endosome membrane; Endoplasmic reticulum membrane; Nucleus membrane; Cell membrane; Lysosome membrane 1 0 17 1 5 2000-12-01 Q9UBZ9 REV1_HUMAN REV1 Translesion synthesis protein REV1 1251 138.2 2 Nucleus 0 0 17 1 5 2005-02-15 O00571 DDX3X_HUMAN DDX3X ATP-dependent RNA helicase DDX3X 662 73.2 X 3.6.4.13 Cell membrane; Nucleus; Cytoplasm; Inflammasome; Cell projection 0 1 Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type 17 1 5 1998-07-15 O15270 SPTC2_HUMAN SPTLC2 Serine palmitoyltransferase 2 562 62.9 14 2.3.1.50 Endoplasmic reticulum membrane 1 1 Neuropathy, hereditary sensory and autonomic, 1C 17 1 5 2000-05-30 O43502 RA51C_HUMAN RAD51C DNA repair protein RAD51 homolog 3 376 42.2 17 Nucleus; Cytoplasm; Mitochondrion 0 2 Fanconi anemia complementation group O; Breast-ovarian cancer, familial, 3 17 1 5 1998-12-15 P04040 CATA_HUMAN CAT Catalase 527 59.8 11 1.11.1.6 Peroxisome matrix 0 1 Acatalasemia 17 1 5 1986-11-01 P07738 PMGE_HUMAN BPGM Bisphosphoglycerate mutase 259 30 7 5.4.2.4 0 1 Erythrocytosis, familial, 8 17 1 5 1988-08-01 P08758 ANXA5_HUMAN ANXA5 Annexin A5 320 35.9 4 0 1 Pregnancy loss, recurrent, 3 17 1 5 1988-11-01 P14555 PA2GA_HUMAN PLA2G2A Phospholipase A2, membrane associated 144 16.1 1 3.1.1.4 Secreted; Cell membrane; Mitochondrion outer membrane 0 0 17 1 5 1990-01-01 P21549 AGT1_HUMAN AGXT Alanine--glyoxylate aminotransferase 392 43 2 2.6.1.44 Peroxisome 0 1 Hyperoxaluria primary 1 17 1 5 1991-05-01 P41222 PTGDS_HUMAN PTGDS Prostaglandin-H2 D-isomerase 190 21 9 5.3.99.2 Rough endoplasmic reticulum; Nucleus membrane; Golgi apparatus; Cytoplasm; Secreted 0 0 17 1 5 1995-02-01 P42575 CASP2_HUMAN CASP2 Caspase-2 452 50.7 7 3.4.22.55 0 1 Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly 17 1 5 1995-11-01 P48552 NRIP1_HUMAN NRIP1 Nuclear receptor-interacting protein 1 1158 126.9 21 Nucleus 0 1 Congenital anomalies of kidney and urinary tract 3 17 1 5 1996-02-01 P54764 EPHA4_HUMAN EPHA4 Ephrin type-A receptor 4 986 109.9 2 2.7.10.1 Cell membrane; Cell projection; Postsynaptic density membrane; Early endosome; Cell junction 1 0 17 1 5 1996-10-01 Q01959 SC6A3_HUMAN SLC6A3 Sodium-dependent dopamine transporter 620 68.5 5 Cell membrane; Cell projection 12 1 Parkinsonism-dystonia 1, infantile-onset 17 1 5 1993-04-01 Q02763 TIE2_HUMAN TEK Angiopoietin-1 receptor 1124 125.8 9 2.7.10.1 Cell membrane; Cell junction; Cytoplasm; Secreted 1 2 Dominantly inherited venous malformations; Glaucoma 3, primary congenital, E 17 1 5 1994-02-01 Q14344 GNA13_HUMAN GNA13 Guanine nucleotide-binding protein subunit alpha-13 377 44.1 17 Cell membrane; Melanosome; Cytoplasm; Nucleus 0 0 17 1 5 1997-11-01 Q96RJ0 TAAR1_HUMAN TAAR1 Trace amine-associated receptor 1 339 39.1 6 Endomembrane system; Endoplasmic reticulum membrane; Cell membrane 7 0 17 1 5 2003-11-07 Q9Y5B9 SP16H_HUMAN SUPT16H FACT complex subunit SPT16 1047 119.9 14 Nucleus; Chromosome 0 1 Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 17 1 5 2006-07-11 Q2NL82 TSR1_HUMAN TSR1 Pre-rRNA-processing protein TSR1 homolog 804 91.8 17 Nucleus 0 0 17 1 4 2007-11-13 P0DOX7 IGK_HUMAN Immunoglobulin kappa light chain 214 23.4 Secreted; Cell membrane 0 0 17 1 3 2017-03-15 O15245 S22A1_HUMAN SLC22A1 Solute carrier family 22 member 1 554 61.2 6 Basolateral cell membrane; Apical cell membrane; Lateral cell membrane; Basal cell membrane; Cell membrane 12 0 16 1 5 2008-05-20 O43543 XRCC2_HUMAN XRCC2 DNA repair protein XRCC2 280 32 7 Nucleus; Cytoplasm 0 3 Fanconi anemia, complementation group U; Spermatogenic failure 50; Premature ovarian failure 17 16 1 5 2002-04-03 P06126 CD1A_HUMAN CD1A T-cell surface glycoprotein CD1a 327 37.1 1 Cell membrane; Membrane raft; Endosome membrane 1 0 16 1 5 1988-01-01 P07305 H10_HUMAN H1-0 Histone H1.0 194 20.9 22 Nucleus; Chromosome 0 0 16 1 5 1988-04-01 P08519 APOA_HUMAN LPA Apolipoprotein(a) 2040 226.5 6 3.4.21.- 0 0 16 1 5 1988-08-01 P11233 RALA_HUMAN RALA Ras-related protein Ral-A 206 23.6 7 3.6.5.2 Cell membrane; Cleavage furrow; Midbody; Mitochondrion 0 1 Hiatt-Neu-Cooper neurodevelopmental syndrome 16 1 5 1989-07-01 P17676 CEBPB_HUMAN CEBPB CCAAT/enhancer-binding protein beta 345 36.1 20 Nucleus; Cytoplasm 0 0 16 1 5 1990-08-01 P36871 PGM1_HUMAN PGM1 Phosphoglucomutase-1 562 61.4 1 5.4.2.2 Cytoplasm 0 1 Congenital disorder of glycosylation 1T 16 1 5 1994-06-01 P60033 CD81_HUMAN CD81 CD81 antigen 236 25.8 11 Cell membrane; Basolateral cell membrane 4 1 Immunodeficiency, common variable, 6 16 1 5 2003-11-21 P61604 CH10_HUMAN HSPE1 10 kDa heat shock protein, mitochondrial 102 10.9 2 Mitochondrion matrix 0 0 16 1 5 2004-05-24 Q13043 STK4_HUMAN STK4 Serine/threonine-protein kinase 4 487 55.6 20 2.7.11.1 Cytoplasm; Nucleus 0 1 Immunodeficiency 110 with lymphoproliferation 16 1 5 2001-02-21 Q13216 ERCC8_HUMAN ERCC8 DNA excision repair protein ERCC-8 396 44.1 5 Nucleus; Chromosome; Nucleus matrix 0 2 Cockayne syndrome A; UV-sensitive syndrome 2 16 1 5 1998-07-15 Q13416 ORC2_HUMAN ORC2 Origin recognition complex subunit 2 577 66 2 Nucleus 0 0 16 1 5 1997-11-01 Q14524 SCN5A_HUMAN SCN5A Sodium channel protein type 5 subunit alpha 2016 226.9 3 Cell membrane; Cytoplasm; Cell junction 24 9 Progressive familial heart block 1A; Long QT syndrome 3; Brugada syndrome 1; Sick sinus syndrome 1; Familial paroxysmal ventricular fibrillation 1; Sudden infant death syndrome; Atrial standstill 1; Cardiomyopathy, dilated, 1E; Atrial fibrillation, familial, 10 16 1 5 1998-12-15 Q6R327 RICTR_HUMAN RICTOR Rapamycin-insensitive companion of mTOR 1708 192.2 5 Cell membrane; Endoplasmic reticulum membrane; Lysosome membrane 0 0 16 1 5 2007-10-23 Q8IXH7 NELFD_HUMAN NELFCD Negative elongation factor C/D 590 66.2 20 Nucleus 0 0 16 1 5 2003-11-14 Q8NHL6 LIRB1_HUMAN LILRB1 Leukocyte immunoglobulin-like receptor subfamily B member 1 650 70.8 Cell membrane 1 0 16 1 5 2003-10-03 Q92633 LPAR1_HUMAN LPAR1 Lysophosphatidic acid receptor 1 364 41.1 9 Cell surface; Cell membrane; Endosome 7 0 16 1 5 1997-11-01 Q92833 JARD2_HUMAN JARID2 Protein Jumonji 1246 138.7 6 Nucleus 0 1 Developmental delay with variable intellectual disability and dysmorphic facies 16 1 5 2001-01-11 O60462 NRP2_HUMAN NRP2 Neuropilin-2 931 104.8 2 Membrane 1 0 16 1 5 2000-12-01 P07320 CRGD_HUMAN CRYGD Gamma-crystallin D 174 20.7 2 0 1 Cataract 4, multiple types 16 1 5 1988-04-01 P09104 ENOG_HUMAN ENO2 Gamma-enolase 434 47.3 12 4.2.1.11 Cytoplasm; Cell membrane 0 0 16 1 5 1989-07-01 P09237 MMP7_HUMAN MMP7 Matrilysin 267 29.7 11 3.4.24.23 Secreted 0 0 16 1 5 1989-07-01 P40938 RFC3_HUMAN RFC3 Replication factor C subunit 3 356 40.6 13 Nucleus 0 0 16 1 5 1995-02-01 P41143 OPRD_HUMAN OPRD1 Delta-type opioid receptor 372 40.4 1 Cell membrane 7 0 16 1 5 1995-02-01 Q5TCY1 TTBK1_HUMAN TTBK1 Tau-tubulin kinase 1 1321 142.7 6 2.7.11.1 Cytoplasm 0 0 16 1 5 2006-05-16 Q9NP58 ABCB6_HUMAN ABCB6 ATP-binding cassette sub-family B member 6 842 93.9 2 Cell membrane; Mitochondrion outer membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Endosome membrane; Lysosome membrane; Late endosome membrane; Early endosome membrane; Secreted; Mitochondrion; Endosome; Melanosome membrane 11 3 Microphthalmia/Coloboma 7; Dyschromatosis universalis hereditaria 3; Pseudohyperkalemia, familial, 2, due to red cell leak 16 1 5 2001-02-21 Q9NR28 DBLOH_HUMAN DIABLO Diablo IAP-binding mitochondrial protein 239 27.1 12 Mitochondrion; Cytoplasm 0 1 Deafness, autosomal dominant, 64 16 1 5 2001-10-18 Q9NZV8 KCND2_HUMAN KCND2 A-type voltage-gated potassium channel KCND2 630 70.5 7 Cell membrane; Cell projection; Synapse; Perikaryon; Postsynaptic cell membrane; Cell junction 6 0 16 1 5 2003-11-07 Q9UHX1 PUF60_HUMAN PUF60 Poly(U)-binding-splicing factor PUF60 559 59.9 8 Nucleus 0 1 Verheij syndrome 16 1 5 2007-09-11 P01833 PIGR_HUMAN PIGR Polymeric immunoglobulin receptor 764 83.3 1 Cell membrane 1 0 16 1 5 1986-07-21 P02724 GLPA_HUMAN GYPA Glycophorin-A 150 16.4 4 Cell membrane 1 0 16 1 5 1986-07-21 P07741 APT_HUMAN APRT Adenine phosphoribosyltransferase 180 19.6 16 2.4.2.7 Cytoplasm 0 1 Adenine phosphoribosyltransferase deficiency 16 1 5 1988-08-01 P08311 CATG_HUMAN CTSG Cathepsin G 255 28.8 14 3.4.21.20 Cell membrane; Cytoplasmic granule; Secreted; Cytoplasm; Lysosome; Nucleus 0 0 16 1 5 1988-08-01 P08473 NEP_HUMAN MME Neprilysin 750 85.5 3 3.4.24.11 Cell membrane 1 2 Charcot-Marie-Tooth disease, axonal, type 2T; Spinocerebellar ataxia 43 16 1 5 1988-08-01 P13995 MTDC_HUMAN MTHFD2 Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial 350 37.9 2 Mitochondrion 0 0 16 1 5 1990-01-01 P35250 RFC2_HUMAN RFC2 Replication factor C subunit 2 354 39.2 7 Nucleus 0 0 16 1 5 1994-02-01 P40937 RFC5_HUMAN RFC5 Replication factor C subunit 5 340 38.5 12 Nucleus 0 0 16 1 5 1995-02-01 P60059 SC61G_HUMAN SEC61G Protein transport protein Sec61 subunit gamma 68 7.7 7 Endoplasmic reticulum membrane 1 0 16 1 5 2003-11-21 P60842 IF4A1_HUMAN EIF4A1 Eukaryotic initiation factor 4A-I 406 46.2 17 3.6.4.13 Cytoplasm; Cell membrane 0 0 16 1 5 1987-08-13 Q01860 PO5F1_HUMAN POU5F1 POU domain, class 5, transcription factor 1 360 38.6 6 Cytoplasm; Nucleus 0 0 16 1 5 1993-07-01 Q04760 LGUL_HUMAN GLO1 Lactoylglutathione lyase 184 20.8 6 4.4.1.5 0 0 16 1 5 1993-10-01 Q13635 PTC1_HUMAN PTCH1 Protein patched homolog 1 1447 160.5 9 Cell membrane; Cell projection 12 3 Basal cell nevus syndrome 1; Basal cell carcinoma; Holoprosencephaly 7 16 1 5 2000-05-30 Q16630 CPSF6_HUMAN CPSF6 Cleavage and polyadenylation specificity factor subunit 6 551 59.2 12 Nucleus; Nucleus speckle; Cytoplasm 0 0 16 1 5 2006-02-07 Q9NQS7 INCE_HUMAN INCENP Inner centromere protein 918 105.4 11 Nucleus; Chromosome; Cytoplasm; Midbody 0 0 16 1 5 2003-04-23 Q9UBT2 SAE2_HUMAN UBA2 SUMO-activating enzyme subunit 2 640 71.2 19 2.3.2.- Cytoplasm; Nucleus 0 1 ACCES syndrome 16 1 5 2004-02-16 Q9Y3R4 NEUR2_HUMAN NEU2 Sialidase-2 380 42.3 2 3.2.1.18 Cytoplasm 0 0 16 1 5 2001-11-16 P01344 IGF2_HUMAN IGF2 Insulin-like growth factor 2 180 20.1 11 Secreted 0 2 Silver-Russell syndrome 1; Silver-Russell syndrome 3 16 1 5 1986-07-21 P01861 IGHG4_HUMAN IGHG4 Immunoglobulin heavy constant gamma 4 396 43.8 14 Secreted 1 0 16 1 5 1986-07-21 P08476 INHBA_HUMAN INHBA Inhibin beta A chain 426 47.4 7 Secreted 0 0 16 1 5 1988-08-01 P22001 KCNA3_HUMAN KCNA3 Potassium voltage-gated channel subfamily A member 3 575 63.8 1 Cell membrane 6 0 16 1 5 1991-08-01 P35030 TRY3_HUMAN PRSS3 Trypsin-3 304 32.5 9 3.4.21.4 Secreted 0 0 16 1 5 1994-02-01 P35609 ACTN2_HUMAN ACTN2 Alpha-actinin-2 894 103.9 1 Cytoplasm 0 4 Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction; Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction; Congenital myopathy 8; Myopathy, distal, 6, adult onset, autosomal dominant 16 1 5 1994-06-01 P52895 AK1C2_HUMAN AKR1C2 Aldo-keto reductase family 1 member C2 323 36.7 10 1.1.1.112, 1.1.1.209, 1.1.1.51, 1.1.1.62, 1.3.1.20 Cytoplasm 0 1 46,XY sex reversal 8 16 1 5 1996-10-01 P53990 IST1_HUMAN IST1 IST1 homolog 364 39.8 16 Cytoplasmic vesicle; Cytoplasm; Midbody; Nucleus envelope 0 0 16 1 5 1996-10-01 P54284 CACB3_HUMAN CACNB3 Voltage-dependent L-type calcium channel subunit beta-3 484 54.5 12 Cytoplasm 0 0 16 1 5 1996-10-01 Q00059 TFAM_HUMAN TFAM Transcription factor A, mitochondrial 246 29.1 10 Mitochondrion; Mitochondrion matrix 0 1 Mitochondrial DNA depletion syndrome 15, hepatocerebral type 16 1 5 1993-10-01 Q92887 MRP2_HUMAN ABCC2 ATP-binding cassette sub-family C member 2 1545 174.2 10 7.6.2.-, 7.6.2.2, 7.6.2.3 Apical cell membrane 17 1 Dubin-Johnson syndrome 16 1 5 1998-07-15 Q9NZL3 ZN224_HUMAN ZNF224 Zinc finger protein 224 707 82.3 19 Nucleus 0 0 16 1 5 2000-12-08 Q9UNN5 FAF1_HUMAN FAF1 FAS-associated factor 1 650 74 1 Nucleus 0 0 16 1 5 2002-05-02 P17301 ITA2_HUMAN ITGA2 Integrin alpha-2 1181 129.3 5 Membrane 1 1 Fetomaternal alloimmune thrombocytopenia 3 16 1 5 1990-08-01 P35249 RFC4_HUMAN RFC4 Replication factor C subunit 4 363 39.7 3 Nucleus 0 1 Morimoto-Ryu-Malicdan neuromuscular syndrome 16 1 5 1994-02-01 P40306 PSB10_HUMAN PSMB10 Proteasome subunit beta type-10 273 28.9 16 3.4.25.1 Cytoplasm; Nucleus 0 2 Proteasome-associated autoinflammatory syndrome 5; Immunodeficiency 121 with autoinflammation 16 1 5 1995-02-01 P42262 GRIA2_HUMAN GRIA2 Glutamate receptor 2 883 98.8 4 Cell membrane; Postsynaptic cell membrane; Postsynaptic density membrane 3 1 Neurodevelopmental disorder with language impairment and behavioral abnormalities 16 1 5 1995-11-01 P48147 PPCE_HUMAN PREP Prolyl endopeptidase 710 80.7 6 3.4.21.26 Cytoplasm 0 0 16 1 5 1996-02-01 P60468 SC61B_HUMAN SEC61B Protein transport protein Sec61 subunit beta 96 10 9 Endoplasmic reticulum membrane 1 0 16 1 5 2004-02-16 P68032 ACTC_HUMAN ACTC1 Actin, alpha cardiac muscle 1 377 42 15 3.6.4.- Cytoplasm 0 3 Cardiomyopathy, dilated, 1R; Cardiomyopathy, familial hypertrophic, 11; Atrial septal defect 5 16 1 5 1987-03-20 P78348 ASIC1_HUMAN ASIC1 Acid-sensing ion channel 1 528 59.9 12 Cell membrane; Postsynaptic cell membrane; Cell projection 2 0 16 1 5 2001-12-05 Q06210 GFPT1_HUMAN GFPT1 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 699 78.8 2 2.6.1.16 0 1 Myasthenic syndrome, congenital, 12 16 1 5 1994-06-01 Q7RTX0 TS1R3_HUMAN TAS1R3 Taste receptor type 1 member 3 852 93.4 1 Cell membrane 7 0 16 1 5 2005-01-04 Q8TEQ6 GEMI5_HUMAN GEMIN5 Gem-associated protein 5 1508 168.6 5 Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 16 1 5 2003-09-19 Q92547 TOPB1_HUMAN TOPBP1 DNA topoisomerase 2-binding protein 1 1522 170.7 3 Nucleus; Chromosome; Cytoplasm 0 0 16 1 5 2005-04-26 Q96H22 CENPN_HUMAN CENPN Centromere protein N 339 39.6 16 Nucleus; Chromosome 0 0 16 1 5 2006-09-19 Q96QZ7 MAGI1_HUMAN MAGI1 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 1 1491 164.6 3 Cell junction; Cell membrane 0 0 16 1 5 2004-09-27 Q9NR48 ASH1L_HUMAN ASH1L Histone-lysine N-methyltransferase ASH1L 2969 332.8 1 2.1.1.359, 2.1.1.367 Nucleus; Cell junction; Chromosome 0 1 Intellectual developmental disorder, autosomal dominant 52 16 1 5 2006-10-31 Q9NVD7 PARVA_HUMAN PARVA Alpha-parvin 372 42.2 11 Cell junction; Cell membrane; Cytoplasm 0 0 16 1 5 2002-01-23 Q9Y6F1 PARP3_HUMAN PARP3 Protein mono-ADP-ribosyltransferase PARP3 533 60.1 3 2.4.2.- Nucleus; Chromosome; Cytoplasm 0 0 16 1 5 2001-09-26 Q96SE7 ZN347_HUMAN ZNF347 Zinc finger protein 347 839 95.8 19 Nucleus 0 0 16 1 4 2002-09-19 O43913 ORC5_HUMAN ORC5 Origin recognition complex subunit 5 435 50.3 7 Nucleus; Chromosome 0 0 15 1 5 1999-07-15 O60264 SMCA5_HUMAN SMARCA5 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 1052 121.9 4 3.6.4.- Nucleus; Chromosome 0 0 15 1 5 2004-10-25 O95714 HERC2_HUMAN HERC2 E3 ubiquitin-protein ligase HERC2 4834 527.2 15 2.3.2.26 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 38 15 1 5 2006-04-04 P03956 MMP1_HUMAN MMP1 Interstitial collagenase 469 54 11 3.4.24.7 Secreted 0 0 15 1 5 1986-10-23 P08637 FCG3A_HUMAN FCGR3A Low affinity immunoglobulin gamma Fc region receptor III-A 254 29.1 1 Cell membrane; Secreted 1 1 Immunodeficiency 20 15 1 5 1988-08-01 P16234 PGFRA_HUMAN PDGFRA Platelet-derived growth factor receptor alpha 1089 122.7 4 2.7.10.1 Cell membrane; Cell projection; Golgi apparatus 1 2 Gastrointestinal stromal tumor; GIST-plus syndrome 15 1 5 1990-04-01 P16615 AT2A2_HUMAN ATP2A2 Sarcoplasmic/endoplasmic reticulum calcium ATPase 2 1042 114.8 12 7.2.2.10 Endoplasmic reticulum membrane; Sarcoplasmic reticulum membrane 10 3 Acrokeratosis verruciformis; Darier disease; Rhabdomyolysis 2 15 1 5 1990-08-01 P17787 ACHB2_HUMAN CHRNB2 Neuronal acetylcholine receptor subunit beta-2 502 57 1 Synaptic cell membrane; Cell membrane 4 1 Epilepsy, nocturnal frontal lobe, 3 15 1 5 1990-08-01 P25103 NK1R_HUMAN TACR1 Substance-P receptor 407 46.3 2 Cell membrane; Early endosome 7 0 15 1 5 1992-05-01 P46934 NEDD4_HUMAN NEDD4 E3 ubiquitin-protein ligase NEDD4 1319 149.1 15 2.3.2.26 Cytoplasm; Nucleus; Cell membrane 0 0 15 1 5 1995-11-01 P60022 DEFB1_HUMAN DEFB1 Beta-defensin 1 68 7.4 8 Secreted; Membrane 0 0 15 1 5 2003-11-21 Q16637 SMN_HUMAN SMN1 Survival motor neuron protein 294 31.8 5 Nucleus; Cytoplasm; Cytoplasmic granule; Perikaryon; Cell projection 0 4 Spinal muscular atrophy 1; Spinal muscular atrophy 2; Spinal muscular atrophy 3; Spinal muscular atrophy 4 15 1 5 1997-11-01 Q5TA45 INT11_HUMAN INTS11 Integrator complex subunit 11 600 67.7 1 3.1.27.- Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 15 1 5 2006-10-31 Q8NB78 KDM1B_HUMAN KDM1B Lysine-specific histone demethylase 2 822 92.1 6 1.14.99.66 Nucleus; Chromosome 0 0 15 1 5 2006-07-25 Q99496 RING2_HUMAN RNF2 E3 ubiquitin-protein ligase RING2 336 37.7 1 2.3.2.27 Nucleus; Cytoplasm; Chromosome 0 1 Luo-Schoch-Yamamoto syndrome 15 1 5 2005-04-26 Q9BVA6 FICD_HUMAN FICD Protein adenylyltransferase FICD 458 51.8 12 2.7.7.108 Endoplasmic reticulum membrane 1 1 Spastic paraplegia 92, autosomal recessive 15 1 5 2008-02-05 Q9GZZ1 NAA50_HUMAN NAA50 N-alpha-acetyltransferase 50 169 19.4 3 2.3.1.258 Cytoplasm; Nucleus 0 0 15 1 5 2007-05-01 Q9H3N8 HRH4_HUMAN HRH4 Histamine H4 receptor 390 44.5 18 Cell membrane 7 0 15 1 5 2001-06-01 P00738 HPT_HUMAN HP Haptoglobin 406 45.2 16 Secreted 0 1 Anhaptoglobinemia 15 1 5 1986-07-21 P18615 NELFE_HUMAN NELFE Negative elongation factor E 380 43.2 6 Nucleus; Chromosome 0 0 15 1 5 1990-11-01 P41208 CETN2_HUMAN CETN2 Centrin-2 172 19.7 X Cytoplasm; Nucleus envelope; Nucleus 0 0 15 1 5 1995-02-01 P41743 KPCI_HUMAN PRKCI Protein kinase C iota type 596 68.3 3 2.7.11.13 Cytoplasm; Membrane; Endosome; Nucleus 0 0 15 1 5 1995-11-01 Q7L266 ASGL1_HUMAN ASRGL1 Isoaspartyl peptidase/L-asparaginase 308 32.1 11 3.4.19.5, 3.5.1.1 Cytoplasm 0 0 15 1 5 2007-10-02 Q7Z6M4 MTEF4_HUMAN MTERF4 Transcription termination factor 4, mitochondrial 381 44 2 Mitochondrion 0 0 15 1 5 2006-10-31 Q96CB9 NSUN4_HUMAN NSUN4 5-cytosine rRNA methyltransferase NSUN4 384 43.1 1 2.1.1.- Mitochondrion 0 0 15 1 5 2007-05-29 Q9NV88 INT9_HUMAN INTS9 Integrator complex subunit 9 658 73.8 8 Nucleus; Cytoplasm 0 0 15 1 5 2006-10-31 Q9UBD5 ORC3_HUMAN ORC3 Origin recognition complex subunit 3 711 82.3 6 Nucleus; Chromosome 0 0 15 1 5 2000-12-01 Q9Y4E8 UBP15_HUMAN USP15 Ubiquitin carboxyl-terminal hydrolase 15 981 112.4 12 3.4.19.12 Cytoplasm; Nucleus; Mitochondrion 0 0 15 1 5 2000-12-01 O75143 ATG13_HUMAN ATG13 Autophagy-related protein 13 517 56.6 11 Cytoplasm; Preautophagosomal structure 0 0 15 1 5 2002-01-23 P02708 ACHA_HUMAN CHRNA1 Acetylcholine receptor subunit alpha 457 51.8 2 Postsynaptic cell membrane; Cell membrane 4 3 Multiple pterygium syndrome, lethal type; Myasthenic syndrome, congenital, 1A, slow-channel; Myasthenic syndrome, congenital, 1B, fast-channel 15 1 5 1986-07-21 P51812 KS6A3_HUMAN RPS6KA3 Ribosomal protein S6 kinase alpha-3 740 83.7 X 2.7.11.1 Nucleus; Cytoplasm 0 2 Coffin-Lowry syndrome; Intellectual developmental disorder, X-linked 19 15 1 5 1996-10-01 P62820 RAB1A_HUMAN RAB1A Ras-related protein Rab-1A 205 22.7 2 3.6.5.2 Golgi apparatus; Endoplasmic reticulum; Early endosome; Cytoplasm; Membrane; Melanosome 0 0 15 1 5 2004-08-16 Q12933 TRAF2_HUMAN TRAF2 TNF receptor-associated factor 2 501 55.9 9 2.3.2.27 Cytoplasm 0 0 15 1 5 2000-05-30 Q14671 PUM1_HUMAN PUM1 Pumilio homolog 1 1186 126.5 1 Cytoplasm; Cytoplasmic granule 0 1 Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism 15 1 5 2004-02-02 Q53HL2 BOREA_HUMAN CDCA8 Borealin 280 31.3 1 Nucleus; Cytoplasm; Chromosome 0 0 15 1 5 2006-07-25 Q92804 RBP56_HUMAN TAF15 TATA-binding protein-associated factor 2N 592 61.8 17 Nucleus; Cytoplasm 0 0 15 1 5 2000-12-01 Q96NY9 MUS81_HUMAN MUS81 Structure-specific endonuclease subunit MUS81 551 61.2 11 3.1.22.- Nucleus 0 0 15 1 5 2004-04-13 Q96RU2 UBP28_HUMAN USP28 Ubiquitin carboxyl-terminal hydrolase 28 1077 122.5 11 3.4.19.12 Nucleus 0 0 15 1 5 2002-03-27 Q9H2S1 KCNN2_HUMAN KCNN2 Small conductance calcium-activated potassium channel protein 2 579 63.8 5 Membrane; Cytoplasm 6 2 Dystonia 34, myoclonic; Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 15 1 5 2001-11-16 Q9H3P2 NELFA_HUMAN NELFA Negative elongation factor A 528 57.3 4 Nucleus 0 0 15 1 5 2003-11-14 O00182 LEG9_HUMAN LGALS9 Galectin-9 355 39.5 17 Cytoplasm; Nucleus; Secreted 0 0 15 1 5 1997-11-01 O00522 KRIT1_HUMAN KRIT1 Krev interaction trapped protein 1 736 84.3 7 Cytoplasm; Cell membrane; Cell junction 0 1 Cerebral cavernous malformations 1 15 1 5 2001-04-27 O43929 ORC4_HUMAN ORC4 Origin recognition complex subunit 4 436 50.4 2 Nucleus 0 1 Meier-Gorlin syndrome 2 15 1 5 1999-07-15 O94782 UBP1_HUMAN USP1 Ubiquitin carboxyl-terminal hydrolase 1 785 88.2 1 3.4.19.12 Nucleus 0 0 15 1 5 2000-12-01 P00488 F13A_HUMAN F13A1 Coagulation factor XIII A chain 732 83.3 6 2.3.2.13 Cytoplasm; Secreted 0 1 Factor XIII subunit A deficiency 15 1 5 1986-07-21 P08034 CXB1_HUMAN GJB1 Gap junction beta-1 protein 283 32 X Cell membrane; Cell junction 4 2 Charcot-Marie-Tooth disease, X-linked dominant, 1; Dejerine-Sottas syndrome 15 1 5 1988-08-01 P11388 TOP2A_HUMAN TOP2A DNA topoisomerase 2-alpha 1531 174.4 17 5.6.2.2 Cytoplasm; Nucleus 0 0 15 1 5 1989-07-01 P11802 CDK4_HUMAN CDK4 Cyclin-dependent kinase 4 303 33.7 12 2.7.11.22 Cytoplasm; Nucleus; Nucleus membrane 0 2 Melanoma, cutaneous malignant 3; Microcephaly 31, primary, autosomal recessive 15 1 5 1989-10-01 P16333 NCK1_HUMAN NCK1 SH2/SH3 adapter protein NCK1 377 42.9 3 Cytoplasm; Endoplasmic reticulum; Nucleus 0 0 15 1 5 1990-08-01 P19838 NFKB1_HUMAN NFKB1 Nuclear factor NF-kappa-B p105 subunit 968 105.4 4 Cytoplasm 0 1 Immunodeficiency, common variable, 12, with autoimmunity 15 1 5 1991-02-01 P54646 AAPK2_HUMAN PRKAA2 5'-AMP-activated protein kinase catalytic subunit alpha-2 552 62.3 1 2.7.11.1 Cytoplasm; Nucleus; Late endosome 0 0 15 1 5 1996-10-01 P78324 SHPS1_HUMAN SIRPA Tyrosine-protein phosphatase non-receptor type substrate 1 504 55 20 Membrane 1 0 15 1 5 2003-03-28 Q08722 CD47_HUMAN CD47 Leukocyte surface antigen CD47 323 35.2 3 Cell membrane 5 0 15 1 5 1995-11-01 Q10589 BST2_HUMAN BST2 Bone marrow stromal antigen 2 180 19.8 19 Golgi apparatus; Cell membrane; Membrane raft; Cytoplasm; Apical cell membrane 1 0 15 1 5 1996-10-01 Q13347 EIF3I_HUMAN EIF3I Eukaryotic translation initiation factor 3 subunit I 325 36.5 1 Cytoplasm 0 0 15 1 5 1997-11-01 Q15050 RRS1_HUMAN RRS1 Ribosome biogenesis regulatory protein homolog 365 41.2 8 Nucleus 0 0 15 1 5 1998-07-15 Q16555 DPYL2_HUMAN DPYSL2 Dihydropyrimidinase-related protein 2 572 62.3 8 Cytoplasm; Membrane 0 0 15 1 5 1998-07-15 Q71U36 TBA1A_HUMAN TUBA1A Tubulin alpha-1A chain 451 50.1 12 3.6.5.- Cytoplasm 0 1 Lissencephaly 3 15 1 5 1987-08-13 Q8WTR7 ZN473_HUMAN ZNF473 Zinc finger protein 473 871 100.2 19 Nucleus 0 0 15 1 5 2004-08-31 Q9NPF7 IL23A_HUMAN IL23A Interleukin-23 subunit alpha 189 20.7 12 Secreted 0 0 15 1 5 2006-10-31 Q9NZJ5 E2AK3_HUMAN EIF2AK3 Eukaryotic translation initiation factor 2-alpha kinase 3 1116 125.2 2 2.7.11.1 Endoplasmic reticulum membrane 1 1 Wolcott-Rallison syndrome 15 1 5 2001-09-26 Q9NZM5 NOP53_HUMAN NOP53 Ribosome biogenesis protein NOP53 478 54.4 19 Nucleus 0 0 15 1 5 2001-09-26 O00206 TLR4_HUMAN TLR4 Toll-like receptor 4 839 95.7 9 Cell membrane; Early endosome; Cell projection 1 0 15 1 5 2002-02-11 O14641 DVL2_HUMAN DVL2 Segment polarity protein dishevelled homolog DVL-2 736 78.9 17 Cell membrane; Cytoplasm; Cytoplasmic vesicle; Nucleus 0 0 15 1 5 2000-05-30 O94759 TRPM2_HUMAN TRPM2 Transient receptor potential cation channel subfamily M member 2 1503 171.2 21 Cell membrane; Perikaryon; Cell projection; Cytoplasmic vesicle; Lysosome 6 0 15 1 5 2000-05-30 P04271 S100B_HUMAN S100B Protein S100-B 92 10.7 21 Cytoplasm; Nucleus; Secreted 0 0 15 1 5 1987-03-20 P07360 CO8G_HUMAN C8G Complement component C8 gamma chain 202 22.3 9 Secreted; Target cell membrane 0 0 15 1 5 1988-04-01 P11387 TOP1_HUMAN TOP1 DNA topoisomerase 1 765 90.7 20 5.6.2.1 Nucleus 0 0 15 1 5 1989-07-01 P11712 CP2C9_HUMAN CYP2C9 Cytochrome P450 2C9 490 55.6 10 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 15 1 5 1989-10-01 P15144 AMPN_HUMAN ANPEP Aminopeptidase N 967 109.5 15 3.4.11.2 Cell membrane 1 0 15 1 5 1990-04-01 P20936 RASA1_HUMAN RASA1 Ras GTPase-activating protein 1 1047 116.4 5 Cytoplasm 0 1 Capillary malformation-arteriovenous malformation 1 15 1 5 1991-02-01 P22607 FGFR3_HUMAN FGFR3 Fibroblast growth factor receptor 3 806 87.7 4 2.7.10.1 Cell membrane; Cytoplasmic vesicle; Endoplasmic reticulum 1 15 Achondroplasia; Crouzon syndrome with acanthosis nigricans; Thanatophoric dysplasia 1; Thanatophoric dysplasia 2; Hypochondroplasia; Bladder cancer; Cervical cancer; Camptodactyly, tall stature, and hearing loss syndrome; Multiple myeloma; Lacrimo-auriculo-dento-digital syndrome 2; Keratinocytic non-epidermolytic nevus; Muenke syndrome; Keratosis, seborrheic; Testicular germ cell tumor; Achondroplasia, severe, with developmental delay and acanthosis nigricans 15 1 5 1991-08-01 P25685 DNJB1_HUMAN DNAJB1 DnaJ homolog subfamily B member 1 340 38 19 Cytoplasm; Nucleus 0 0 15 1 5 1992-05-01 P41567 EIF1_HUMAN EIF1 Eukaryotic translation initiation factor 1 113 12.7 17 Cytoplasm 0 0 15 1 5 1995-11-01 P43026 GDF5_HUMAN GDF5 Growth/differentiation factor 5 501 55.4 20 Secreted; Cell membrane 0 9 Acromesomelic dysplasia 2A; Acromesomelic dysplasia 2C; Brachydactyly C; Acromesomelic dysplasia 2B; Symphalangism, proximal 1B; Multiple synostoses syndrome 2; Brachydactyly A2; Osteoarthritis 5; Brachydactyly A1, C 15 1 5 1995-11-01 P43403 ZAP70_HUMAN ZAP70 Tyrosine-protein kinase ZAP-70 619 69.9 2 2.7.10.2 Cytoplasm; Cell membrane 0 2 Immunodeficiency 48; Autoimmune disease, multisystem, infantile-onset, 2 15 1 5 1995-11-01 P54132 BLM_HUMAN BLM RecQ-like DNA helicase BLM 1417 159 15 5.6.2.4 Nucleus 0 1 Bloom syndrome 15 1 5 1996-10-01 Q13418 ILK_HUMAN ILK Scaffold protein ILK 452 51.4 11 Cell junction; Cell membrane; Cell projection; Cytoplasm; Nucleus 0 0 15 1 5 2000-12-01 Q13838 DX39B_HUMAN DDX39B Spliceosome RNA helicase DDX39B 428 49 6 3.6.4.13 Nucleus; Nucleus speckle; Cytoplasm 0 0 15 1 5 1997-11-01 Q15382 RHEB_HUMAN RHEB GTP-binding protein Rheb 184 20.5 7 3.6.5.- Endomembrane system; Lysosome membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane; Cytoplasm 0 0 15 1 5 2000-05-30 Q676U5 A16L1_HUMAN ATG16L1 Autophagy-related protein 16-1 607 68.3 2 Cytoplasm; Preautophagosomal structure membrane; Endosome membrane; Lysosome membrane 0 1 Inflammatory bowel disease 10 15 1 5 2005-04-12 Q96DC9 OTUB2_HUMAN OTUB2 Ubiquitin thioesterase OTUB2 234 27.2 14 3.4.19.12 0 0 15 1 5 2004-03-01 Q96HA8 NTAQ1_HUMAN NTAQ1 Protein N-terminal glutamine amidohydrolase 205 23.7 8 3.5.1.122 Cytoplasm; Nucleus 0 0 15 1 5 2007-03-06 Q99714 HCD2_HUMAN HSD17B10 3-hydroxyacyl-CoA dehydrogenase type-2 261 26.9 X 1.1.1.35 Mitochondrion; Mitochondrion matrix 0 1 HSD10 mitochondrial disease 15 1 5 1997-11-01 Q99835 SMO_HUMAN SMO Protein smoothened 787 86.4 7 Cell membrane; Cell projection 7 1 Curry-Jones syndrome 15 1 5 2000-05-30 Q9HBH9 MKNK2_HUMAN MKNK2 MAP kinase-interacting serine/threonine-protein kinase 2 465 51.9 19 2.7.11.1 Nucleus 0 0 15 1 5 2003-04-30 Q9NZC2 TREM2_HUMAN TREM2 Triggering receptor expressed on myeloid cells 2 230 25.4 6 Cell membrane 1 2 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2; Alzheimer disease 17 15 1 5 2004-07-19 Q9UBU9 NXF1_HUMAN NXF1 Nuclear RNA export factor 1 619 70.2 11 Nucleus; Nucleus speckle; Nucleus envelope; Cytoplasm 0 0 15 1 5 2002-03-27 Q9Y297 FBW1A_HUMAN BTRC F-box/WD repeat-containing protein 1A 605 68.9 10 Cytoplasm; Nucleus 0 0 15 1 5 2001-02-21 Q96QZ0 PANX3_HUMAN PANX3 Pannexin-3 392 44.7 11 Cell membrane; Cell junction; Endoplasmic reticulum membrane 4 0 15 1 4 2002-01-23 P02452 CO1A1_HUMAN COL1A1 Collagen alpha-1(I) chain 1464 138.9 17 Secreted 0 9 Caffey disease; Ehlers-Danlos syndrome, classic type, 1; Ehlers-Danlos syndrome, arthrochalasia type, 1; Osteogenesis imperfecta 1; Osteogenesis imperfecta 2; Osteogenesis imperfecta 3; Osteogenesis imperfecta 4; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1; Osteoporosis 14 1 5 1986-07-21 P05362 ICAM1_HUMAN ICAM1 Intercellular adhesion molecule 1 532 57.8 19 Cell membrane 1 0 14 1 5 1988-11-01 P08253 MMP2_HUMAN MMP2 72 kDa type IV collagenase 660 73.9 16 3.4.24.24 Secreted; Membrane; Nucleus 0 1 Multicentric osteolysis, nodulosis, and arthropathy 14 1 5 1988-08-01 P08648 ITA5_HUMAN ITGA5 Integrin alpha-5 1049 114.5 12 Cell membrane; Cell junction 1 0 14 1 5 1988-08-01 P09493 TPM1_HUMAN TPM1 Tropomyosin alpha-1 chain 284 32.7 15 Cytoplasm 0 3 Cardiomyopathy, familial hypertrophic, 3; Cardiomyopathy, dilated, 1Y; Left ventricular non-compaction 9 14 1 5 1989-07-01 P09936 UCHL1_HUMAN UCHL1 Ubiquitin carboxyl-terminal hydrolase isozyme L1 223 24.8 4 3.4.19.12 Cytoplasm; Endoplasmic reticulum membrane 0 3 Parkinson disease 5; Spastic paraplegia 79A, autosomal dominant, with ataxia; Spastic paraplegia 79B, autosomal recessive 14 1 5 1989-07-01 P10276 RARA_HUMAN RARA Retinoic acid receptor alpha 462 50.8 17 Nucleus; Cytoplasm 0 0 14 1 5 1989-07-01 P10635 CP2D6_HUMAN CYP2D6 Cytochrome P450 2D6 497 55.8 22 1.14.14.- Endoplasmic reticulum membrane; Microsome membrane 0 0 14 1 5 1989-07-01 P25106 ACKR3_HUMAN ACKR3 Atypical chemokine receptor 3 362 41.5 2 Cell membrane; Early endosome; Recycling endosome 7 1 Oculomotor-abducens synkinesis 14 1 5 1992-05-01 P28347 TEAD1_HUMAN TEAD1 Transcriptional enhancer factor TEF-1 426 47.9 11 Nucleus 0 1 Sveinsson chorioretinal atrophy 14 1 5 1992-12-01 P31785 IL2RG_HUMAN IL2RG Cytokine receptor common subunit gamma 369 42.3 X Cell membrane; Cell surface 1 2 Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative; X-linked combined immunodeficiency 14 1 5 1993-07-01 P35270 SPRE_HUMAN SPR Sepiapterin reductase 261 28 2 1.1.1.153 Cytoplasm 0 1 Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency 14 1 5 1994-02-01 P46060 RAGP1_HUMAN RANGAP1 Ran GTPase-activating protein 1 587 63.5 22 Cytoplasm; Nucleus; Nucleus envelope; Chromosome 0 0 14 1 5 1995-11-01 P49356 FNTB_HUMAN FNTB Protein farnesyltransferase subunit beta 437 48.8 14 2.5.1.58 0 0 14 1 5 1996-02-01 P51857 AK1D1_HUMAN AKR1D1 Aldo-keto reductase family 1 member D1 326 37.4 7 1.3.1.3 Cytoplasm 0 1 Congenital bile acid synthesis defect 2 14 1 5 1996-10-01 P63172 DYLT1_HUMAN DYNLT1 Dynein light chain Tctex-type 1 113 12.5 6 Golgi apparatus; Cytoplasm 0 0 14 1 5 2004-09-27 Q13162 PRDX4_HUMAN PRDX4 Peroxiredoxin-4 271 30.5 X 1.11.1.24 Cytoplasm; Endoplasmic reticulum 0 0 14 1 5 1998-07-15 Q14315 FLNC_HUMAN FLNC Filamin-C 2725 291 7 Cytoplasm; Membrane 0 4 Myopathy, myofibrillar, 5; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5 14 1 5 2003-06-16 Q14451 GRB7_HUMAN GRB7 Growth factor receptor-bound protein 7 532 59.7 17 Cytoplasm; Cell junction; Cell membrane; Cytoplasmic granule; Cell projection 0 0 14 1 5 1999-07-15 Q8IW19 APLF_HUMAN APLF Aprataxin and PNK-like factor 511 57 2 3.1.-.- Nucleus; Chromosome; Cytoplasm 0 0 14 1 5 2005-08-16 Q92600 CNOT9_HUMAN CNOT9 CCR4-NOT transcription complex subunit 9 299 33.6 2 Nucleus; Cytoplasm 0 0 14 1 5 2008-04-08 Q92830 KAT2A_HUMAN KAT2A Histone acetyltransferase KAT2A 837 93.9 17 2.3.1.48 Nucleus; Chromosome; Cytoplasm 0 0 14 1 5 2001-04-27 Q96CV9 OPTN_HUMAN OPTN Optineurin 577 65.9 10 Cytoplasm; Golgi apparatus; Cytoplasmic vesicle; Recycling endosome 0 3 Glaucoma 1, open angle, E; Glaucoma, normal pressure; Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia 14 1 5 2005-03-29 Q96RQ3 MCCA_HUMAN MCCC1 Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial 725 80.5 3 6.4.1.4 Mitochondrion matrix 0 1 3-methylcrotonoyl-CoA carboxylase 1 deficiency 14 1 5 2002-03-05 Q99836 MYD88_HUMAN MYD88 Myeloid differentiation primary response protein MyD88 296 33.2 3 Cytoplasm; Nucleus 0 2 Immunodeficiency 68; Macroglobulinemia, Waldenstrom, 1 14 1 5 2001-10-18 Q9HCC0 MCCB_HUMAN MCCC2 Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial 563 61.3 5 6.4.1.4 Mitochondrion matrix 0 1 3-methylcrotonoyl-CoA carboxylase 2 deficiency 14 1 5 2002-03-05 Q9NX46 ADPRS_HUMAN ADPRS ADP-ribosylhydrolase ARH3 363 38.9 1 Nucleus; Cytoplasm; Chromosome; Mitochondrion matrix 0 1 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 14 1 5 2007-02-06 Q9ULW0 TPX2_HUMAN TPX2 Targeting protein for Xklp2 747 85.7 20 Nucleus; Cytoplasm 0 0 14 1 5 2001-02-21 Q9ULX3 NOB1_HUMAN NOB1 RNA-binding protein NOB1 412 46.7 16 3.1.-.- Nucleus 0 0 14 1 5 2006-05-02 O00757 F16P2_HUMAN FBP2 Fructose-1,6-bisphosphatase isozyme 2 339 36.7 9 3.1.3.11 Cell junction; Cytoplasm; Nucleus 0 1 Leukodystrophy, childhood-onset, remitting 14 1 5 1998-07-15 O94804 STK10_HUMAN STK10 Serine/threonine-protein kinase 10 968 112.1 5 2.7.11.1 Cell membrane 0 1 Testicular germ cell tumor 14 1 5 2001-01-24 P01876 IGHA1_HUMAN IGHA1 Immunoglobulin heavy constant alpha 1 398 42.8 14 Secreted 1 0 14 1 5 1986-07-21 P07237 PDIA1_HUMAN P4HB Protein disulfide-isomerase 508 57.1 17 5.3.4.1 Endoplasmic reticulum; Endoplasmic reticulum lumen; Melanosome; Cell membrane 0 1 Cole-Carpenter syndrome 1 14 1 5 1988-04-01 P18564 ITB6_HUMAN ITGB6 Integrin beta-6 788 85.9 2 Cell membrane; Cell junction 1 1 Amelogenesis imperfecta 1H 14 1 5 1990-11-01 P20339 RAB5A_HUMAN RAB5A Ras-related protein Rab-5A 215 23.7 3 3.6.5.2 Cell membrane; Early endosome membrane; Melanosome; Cytoplasmic vesicle; Cell projection; Membrane; Cytoplasm; Endosome membrane 0 0 14 1 5 1991-02-01 P35236 PTN7_HUMAN PTPN7 Tyrosine-protein phosphatase non-receptor type 7 360 40.5 1 3.1.3.48 Cytoplasm 0 0 14 1 5 1994-02-01 P36542 ATPG_HUMAN ATP5F1C ATP synthase F(1) complex subunit gamma, mitochondrial 298 33 10 Mitochondrion inner membrane 0 0 14 1 5 1994-06-01 P55011 S12A2_HUMAN SLC12A2 Solute carrier family 12 member 2 1212 131.4 5 Basolateral cell membrane 12 3 Deafness, autosomal dominant, 78; Delpire-McNeill syndrome; Kilquist syndrome 14 1 5 1996-10-01 P61960 UFM1_HUMAN UFM1 Ubiquitin-fold modifier 1 85 9.1 13 Nucleus; Cytoplasm 0 1 Leukodystrophy, hypomyelinating, 14 14 1 5 2004-06-07 Q03188 CENPC_HUMAN CENPC Centromere protein C 943 106.8 4 Nucleus; Chromosome 0 0 14 1 5 1993-10-01 Q09328 MGT5A_HUMAN MGAT5 Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A 741 84.5 2 2.4.1.155 Golgi apparatus membrane 1 0 14 1 5 1995-11-01 Q13164 MK07_HUMAN MAPK7 Mitogen-activated protein kinase 7 816 88.4 17 2.7.11.24 Cytoplasm; Nucleus 0 0 14 1 5 1997-11-01 Q15466 NR0B2_HUMAN NR0B2 Nuclear receptor subfamily 0 group B member 2 257 28.1 1 Nucleus; Cytoplasm 0 1 Obesity 14 1 5 2000-12-01 Q16774 KGUA_HUMAN GUK1 Guanylate kinase 197 21.7 1 2.7.4.8 Photoreceptor inner segment; Cytoplasm 0 1 Mitochondrial DNA depletion syndrome 21 14 1 5 1997-11-01 Q71F23 CENPU_HUMAN CENPU Centromere protein U 418 47.5 4 Cytoplasm; Nucleus; Chromosome 0 0 14 1 5 2006-07-25 Q86TI2 DPP9_HUMAN DPP9 Dipeptidyl peptidase 9 863 98.3 19 3.4.14.5 Cytoplasm 0 1 Hatipoglu immunodeficiency syndrome 14 1 5 2005-06-07 Q8NFZ4 NLGN2_HUMAN NLGN2 Neuroligin-2 835 90.8 17 Cell membrane; Postsynaptic cell membrane; Presynaptic cell membrane; Cell projection; Synapse 1 0 14 1 5 2003-05-23 Q8WXF7 ATLA1_HUMAN ATL1 Atlastin-1 558 63.5 14 3.6.5.- Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell projection 2 2 Spastic paraplegia 3, autosomal dominant; Neuropathy, hereditary sensory, 1D 14 1 5 2003-10-24 Q93034 CUL5_HUMAN CUL5 Cullin-5 780 91 11 Nucleus 0 0 14 1 5 1997-11-01 Q96AY2 EME1_HUMAN EME1 Structure-specific endonuclease subunit EME1 570 63.3 17 Nucleus 0 0 14 1 5 2006-02-21 Q96SD1 DCR1C_HUMAN DCLRE1C Protein artemis 692 78.4 10 3.1.-.- Nucleus 0 3 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation; Severe combined immunodeficiency Athabaskan type; Omenn syndrome 14 1 5 2005-07-19 Q9H0R8 GBRL1_HUMAN GABARAPL1 Gamma-aminobutyric acid receptor-associated protein-like 1 117 14 12 Cytoplasmic vesicle; Cytoplasmic vesicle membrane; Cytoplasm; Endoplasmic reticulum; Golgi apparatus 0 0 14 1 5 2004-03-01 Q9NUX5 POTE1_HUMAN POT1 Protection of telomeres protein 1 634 71.4 7 Nucleus; Chromosome 0 3 Tumor predisposition syndrome 3; Cerebroretinal microangiopathy with calcifications and cysts 3; Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 8 14 1 5 2004-07-19 Q9UER7 DAXX_HUMAN DAXX Death domain-associated protein 6 740 81.4 6 Cytoplasm; Nucleus; Chromosome 0 0 14 1 5 2002-11-01 Q9Y2R2 PTN22_HUMAN PTPN22 Tyrosine-protein phosphatase non-receptor type 22 807 91.7 1 3.1.3.48 Cytoplasm 0 4 Systemic lupus erythematosus; Type 1 diabetes mellitus; Rheumatoid arthritis; Vitiligo 14 1 5 2002-03-27 O14727 APAF_HUMAN APAF1 Apoptotic protease-activating factor 1 1248 141.8 12 Cytoplasm 0 0 14 1 5 1998-07-15 O43613 OX1R_HUMAN HCRTR1 Orexin/Hypocretin receptor type 1 425 47.5 1 Cell membrane 7 0 14 1 5 2000-05-30 O60673 REV3L_HUMAN REV3L DNA polymerase zeta catalytic subunit 3130 352.8 6 2.7.7.7 Nucleus 0 0 14 1 5 1998-12-15 O75947 ATP5H_HUMAN ATP5PD ATP synthase peripheral stalk subunit d, mitochondrial 161 18.5 17 Mitochondrion; Mitochondrion inner membrane 0 0 14 1 5 2000-05-30 O94760 DDAH1_HUMAN DDAH1 N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 285 31.1 1 3.5.3.18 0 0 14 1 5 2000-05-30 P01040 CYTA_HUMAN CSTA Cystatin-A 98 11 3 Cytoplasm 0 1 Peeling skin syndrome 4 14 1 5 1986-07-21 P02749 APOH_HUMAN APOH Beta-2-glycoprotein 1 345 38.3 17 Secreted 0 0 14 1 5 1986-07-21 P06681 CO2_HUMAN C2 Complement C2 752 83.3 6 Secreted; Cell surface 0 2 Macular degeneration, age-related, 14; Complement component 2 deficiency 14 1 5 1988-01-01 P07992 ERCC1_HUMAN ERCC1 DNA excision repair protein ERCC-1 297 32.6 19 Nucleus 0 1 Cerebro-oculo-facio-skeletal syndrome 4 14 1 5 1988-08-01 P15927 RFA2_HUMAN RPA2 Replication protein A 32 kDa subunit 270 29.2 1 Nucleus 0 0 14 1 5 1990-04-01 P23467 PTPRB_HUMAN PTPRB Receptor-type tyrosine-protein phosphatase beta 1997 224.3 12 3.1.3.48 Membrane 1 0 14 1 5 1991-11-01 P24539 AT5F1_HUMAN ATP5PB ATP synthase peripheral stalk subunit b, mitochondrial 256 28.9 1 Mitochondrion; Mitochondrion inner membrane 0 0 14 1 5 1992-03-01 P25942 TNR5_HUMAN CD40 Tumor necrosis factor receptor superfamily member 5 277 30.6 20 Cell membrane 1 1 Immunodeficiency with hyper-IgM 3 14 1 5 1992-05-01 P41250 GARS_HUMAN GARS1 Glycine--tRNA ligase 739 83.2 7 6.1.1.14 Cytoplasm; Cell projection; Secreted 0 3 Charcot-Marie-Tooth disease, axonal, type 2D; Neuronopathy, distal hereditary motor, autosomal dominant 5; Spinal muscular atrophy, infantile, James type 14 1 5 1995-02-01 P62166 NCS1_HUMAN NCS1 Neuronal calcium sensor 1 190 21.9 9 Golgi apparatus; Postsynaptic density; Cytoplasm; Cell membrane; Membrane 0 0 14 1 5 2004-06-21 Q13113 PDZ1I_HUMAN PDZK1IP1 PDZK1-interacting protein 1 114 12.2 1 Apical cell membrane 1 0 14 1 5 2000-05-30 Q15303 ERBB4_HUMAN ERBB4 Receptor tyrosine-protein kinase erbB-4 1308 146.8 2 2.7.10.1 Cell membrane 1 1 Amyotrophic lateral sclerosis 19 14 1 5 1998-12-15 Q6P179 ERAP2_HUMAN ERAP2 Endoplasmic reticulum aminopeptidase 2 960 110.5 5 3.4.11.- Endoplasmic reticulum membrane 1 0 14 1 5 2008-01-15 Q7L8A9 VASH1_HUMAN VASH1 Tubulinyl-Tyr carboxypeptidase 1 365 41 14 3.4.17.17 Cytoplasm; Secreted 0 0 14 1 5 2005-04-12 Q86VB7 C163A_HUMAN CD163 Scavenger receptor cysteine-rich type 1 protein M130 1156 125.5 12 Cell membrane 1 0 14 1 5 2006-05-30 Q8NAV1 PR38A_HUMAN PRPF38A Pre-mRNA-splicing factor 38A 312 37.5 1 Nucleus 0 0 14 1 5 2007-05-15 Q8WX92 NELFB_HUMAN NELFB Negative elongation factor B 628 70.1 9 Nucleus 0 0 14 1 5 2003-11-14 Q8WYQ5 DGCR8_HUMAN DGCR8 Microprocessor complex subunit DGCR8 773 86 22 Nucleus 0 0 14 1 5 2002-10-10 Q9H492 MLP3A_HUMAN MAP1LC3A Microtubule-associated protein 1 light chain 3 alpha 121 14.3 20 Cytoplasmic vesicle; Endomembrane system; Cytoplasm 0 0 14 1 5 2002-11-08 Q9NNX6 CD209_HUMAN CD209 CD209 antigen 404 45.8 19 Membrane raft 1 0 14 1 5 2004-04-13 Q9NVX2 NLE1_HUMAN NLE1 Notchless protein homolog 1 485 53.3 17 Nucleus 0 0 14 1 5 2003-09-19 Q9Y2U9 KLDC2_HUMAN KLHDC2 Kelch domain-containing protein 2 406 46.1 14 Nucleus 0 0 14 1 5 2003-02-12 P09871 C1S_HUMAN C1S Complement C1s subcomponent 688 76.7 12 3.4.21.42 Secreted; Cell surface 0 2 Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type, 2 14 1 5 1989-07-01 P14635 CCNB1_HUMAN CCNB1 G2/mitotic-specific cyclin-B1 433 48.3 5 Cytoplasm; Nucleus 0 0 14 1 5 1990-04-01 P16066 ANPRA_HUMAN NPR1 Atrial natriuretic peptide receptor 1 1061 118.9 1 4.6.1.2 Membrane 1 0 14 1 5 1990-04-01 P27918 PROP_HUMAN CFP Properdin 469 51.3 X Secreted 0 1 Properdin deficiency 14 1 5 1992-08-01 P48059 LIMS1_HUMAN LIMS1 LIM and senescent cell antigen-like-containing domain protein 1 325 37.3 2 Cell junction; Cell membrane 0 0 14 1 5 1996-02-01 P49354 FNTA_HUMAN FNTA Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha 379 44.4 8 2.5.1.58, 2.5.1.59 0 0 14 1 5 1996-02-01 P60880 SNP25_HUMAN SNAP25 Synaptosomal-associated protein 25 206 23.3 20 Cytoplasm; Cell membrane; Synapse; Photoreceptor inner segment 0 1 Developmental and epileptic encephalopathy 117 14 1 5 2004-04-13 P61326 MGN_HUMAN MAGOH Protein mago nashi homolog 146 17.2 1 Nucleus; Nucleus speckle; Cytoplasm 0 0 14 1 5 2004-05-10 P98073 ENTK_HUMAN TMPRSS15 Enteropeptidase 1019 112.9 21 3.4.21.9 Membrane 1 1 Enterokinase deficiency 14 1 5 1996-02-01 P98088 MUC5A_HUMAN MUC5AC Mucin-5AC 5654 585.6 11 Secreted 0 0 14 1 5 1996-02-01 Q02153 GCYB1_HUMAN GUCY1B1 Guanylate cyclase soluble subunit beta-1 619 70.5 4 4.6.1.2 Cytoplasm 0 0 14 1 5 1993-07-01 Q04637 IF4G1_HUMAN EIF4G1 Eukaryotic translation initiation factor 4 gamma 1 1599 175.5 3 Cytoplasm; Nucleus 0 1 Parkinson disease 18 14 1 5 1995-02-01 Q13315 ATM_HUMAN ATM Serine-protein kinase ATM 3056 350.7 11 2.7.11.1 Nucleus; Cytoplasmic vesicle; Cytoplasm; Peroxisome matrix 0 1 Ataxia telangiectasia 14 1 5 2001-04-27 Q13415 ORC1_HUMAN ORC1 Origin recognition complex subunit 1 861 97.4 1 Nucleus 0 1 Meier-Gorlin syndrome 1 14 1 5 1997-11-01 Q13523 PRP4K_HUMAN PRP4K Serine/threonine-protein kinase PRP4 homolog 1007 117 6 2.7.11.1 Nucleus; Chromosome 0 0 14 1 5 1998-07-15 Q14498 RBM39_HUMAN RBM39 RNA-binding protein 39 530 59.4 20 Nucleus speckle 0 0 14 1 5 2003-02-01 Q14562 DHX8_HUMAN DHX8 ATP-dependent RNA helicase DHX8 1220 139.3 17 3.6.4.13 Nucleus 0 0 14 1 5 1998-07-15 Q8N697 S15A4_HUMAN SLC15A4 Solute carrier family 15 member 4 577 62 12 Lysosome membrane; Endosome membrane; Early endosome membrane 12 0 14 1 5 2008-06-10 Q96LB1 MRGX2_HUMAN MRGPRX2 Mas-related G protein-coupled receptor member X2 330 37.1 11 Cell membrane 7 0 14 1 5 2004-07-19 Q9H477 RBSK_HUMAN RBKS Ribokinase 322 34.1 2 2.7.1.15 Cytoplasm; Nucleus 0 0 14 1 5 2002-01-23 Q9HB14 KCNKD_HUMAN KCNK13 Potassium channel subfamily K member 13 408 45.4 14 Cell membrane 4 0 14 1 5 2002-11-01 Q9UBB5 MBD2_HUMAN MBD2 Methyl-CpG-binding domain protein 2 411 43.3 18 Nucleus; Chromosome 0 0 14 1 5 2004-07-19 A0AVT1 UBA6_HUMAN UBA6 Ubiquitin-like modifier-activating enzyme 6 1052 118 4 6.2.1.45 0 0 14 1 5 2007-02-20 O43602 DCX_HUMAN DCX Neuronal migration protein doublecortin 365 40.6 X Cytoplasm; Cell projection 0 2 Lissencephaly, X-linked 1; Subcortical band heterotopia X-linked 14 1 5 2000-05-30 P13500 CCL2_HUMAN CCL2 C-C motif chemokine 2 99 11 17 Secreted 0 0 14 1 5 1990-01-01 P16581 LYAM2_HUMAN SELE E-selectin 610 66.7 1 Cell membrane 1 0 14 1 5 1990-08-01 P27448 MARK3_HUMAN MARK3 MAP/microtubule affinity-regulating kinase 3 753 84.4 14 2.7.11.1 Cell membrane; Cell projection; Cytoplasm 0 1 Visual impairment and progressive phthisis bulbi 14 1 5 1992-08-01 P29350 PTN6_HUMAN PTPN6 Tyrosine-protein phosphatase non-receptor type 6 595 67.6 12 3.1.3.48 Cytoplasm; Nucleus 0 0 14 1 5 1992-12-01 P31327 CPSM_HUMAN CPS1 Carbamoyl-phosphate synthase [ammonia], mitochondrial 1500 164.9 2 6.3.4.16 Mitochondrion; Nucleus; Cell membrane 0 1 Carbamoyl phosphate synthetase 1 deficiency 14 1 5 1993-07-01 P32238 CCKAR_HUMAN CCKAR Cholecystokinin receptor type A 428 47.8 4 Cell membrane 7 0 14 1 5 1993-10-01 P33897 ABCD1_HUMAN ABCD1 ATP-binding cassette sub-family D member 1 745 82.9 X 3.1.2.-, 7.6.2.- Peroxisome membrane; Mitochondrion membrane; Lysosome membrane; Endoplasmic reticulum membrane 5 1 Adrenoleukodystrophy 14 1 5 1994-02-01 P42166 LAP2A_HUMAN TMPO Lamina-associated polypeptide 2, isoform alpha 694 75.5 12 Nucleus; Chromosome 0 0 14 1 5 1995-11-01 P49682 CXCR3_HUMAN CXCR3 C-X-C chemokine receptor type 3 368 40.7 X Cell membrane 7 0 14 1 5 1996-02-01 P51587 BRCA2_HUMAN BRCA2 Breast cancer type 2 susceptibility protein 3418 384.2 13 Chromosome; Nucleus; Cytoplasm 0 6 Breast cancer; Pancreatic cancer 2; Breast-ovarian cancer, familial, 2; Fanconi anemia complementation group D1; Glioma 3; Medulloblastoma 14 1 5 1996-10-01 P61619 S61A1_HUMAN SEC61A1 Protein transport protein Sec61 subunit alpha isoform 1 476 52.3 3 Endoplasmic reticulum membrane 10 3 Tubulointerstitial kidney disease, autosomal dominant 5; Immunodeficiency, common variable, 15; Neutropenia, severe congenital, 11, autosomal dominant 14 1 5 2004-06-07 Q01543 FLI1_HUMAN FLI1 Friend leukemia integration 1 transcription factor 452 51 11 Nucleus 0 2 Ewing sarcoma; Bleeding disorder, platelet-type, 21 14 1 5 1993-07-01 Q07011 TNR9_HUMAN TNFRSF9 Tumor necrosis factor receptor superfamily member 9 255 27.9 1 Cell membrane 1 1 Immunodeficiency 109 with lymphoproliferation 14 1 5 1995-02-01 Q15046 SYK_HUMAN KARS1 Lysine--tRNA ligase 597 68 16 2.7.7.-, 6.1.1.6 Cytoplasm; Nucleus; Cell membrane; Secreted 0 4 Charcot-Marie-Tooth disease, recessive intermediate B; Deafness, autosomal recessive, 89; Deafness, congenital, and adult-onset progressive leukoencephalopathy; Leukoencephalopathy, progressive, infantile-onset, with or without deafness 14 1 5 1997-11-01 Q15149 PLEC_HUMAN PLEC Plectin 4684 531.8 8 Cytoplasm; Cell junction; Cell projection 0 5 Epidermolysis bullosa simplex 5C, with pyloric atresia; Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5A, Ogna type; Muscular dystrophy, limb-girdle, autosomal recessive 17; Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive 14 1 5 2001-06-01 Q86VP6 CAND1_HUMAN CAND1 Cullin-associated NEDD8-dissociated protein 1 1230 136.4 12 Cytoplasm; Nucleus 0 0 14 1 5 2005-06-07 Q8TCU6 PREX1_HUMAN PREX1 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein 1659 186.2 20 Cytoplasm; Cell membrane 0 0 14 1 5 2003-01-17 Q9BYC5 FUT8_HUMAN FUT8 Alpha-(1,6)-fucosyltransferase 575 66.5 14 2.4.1.68 Golgi apparatus 1 1 Congenital disorder of glycosylation with defective fucosylation 1 14 1 5 2002-03-05 Q9C0D3 ZY11B_HUMAN ZYG11B Protein zyg-11 homolog B 744 83.9 1 Cytoplasm 0 0 14 1 5 2007-10-02 Q9NPA0 EMC7_HUMAN EMC7 Endoplasmic reticulum membrane protein complex subunit 7 242 26.5 15 Endoplasmic reticulum membrane 1 0 14 1 5 2006-06-27 Q9UBE0 SAE1_HUMAN SAE1 SUMO-activating enzyme subunit 1 346 38.5 19 Nucleus 0 0 14 1 5 2004-02-16 Q9NXL6 SIDT1_HUMAN SIDT1 SID1 transmembrane family member 1 827 93.8 3 Membrane 11 0 14 1 4 2005-04-26 A6H8Y1 BDP1_HUMAN BDP1 Transcription factor TFIIIB component B'' homolog 2624 293.9 5 Nucleus 0 1 Deafness, autosomal recessive, 112 13 1 5 2008-05-20 O14508 SOCS2_HUMAN SOCS2 Suppressor of cytokine signaling 2 198 22.2 12 Cytoplasm 0 0 13 1 5 2002-04-16 O14763 TR10B_HUMAN TNFRSF10B Tumor necrosis factor receptor superfamily member 10B 440 47.9 8 Membrane 1 1 Squamous cell carcinoma of the head and neck 13 1 5 2001-09-26 O15399 NMDE4_HUMAN GRIN2D Glutamate receptor ionotropic, NMDA 2D 1336 143.8 19 Cell membrane; Postsynaptic cell membrane 3 1 Developmental and epileptic encephalopathy 46 13 1 5 2001-08-29 O43464 HTRA2_HUMAN HTRA2 Serine protease HTRA2, mitochondrial 458 48.8 2 3.4.21.108 Mitochondrion intermembrane space; Mitochondrion membrane 1 2 3-methylglutaconic aciduria 8; Parkinson disease 13 13 1 5 2001-09-26 O75367 H2AY_HUMAN MACROH2A1 Core histone macro-H2A.1 369 39.2 5 Nucleus; Chromosome 0 0 13 1 5 2001-01-24 P02743 SAMP_HUMAN APCS Serum amyloid P-component 223 25.4 1 Secreted 0 0 13 1 5 1986-07-21 P17643 TYRP1_HUMAN TYRP1 5,6-dihydroxyindole-2-carboxylic acid oxidase 537 60.7 9 1.14.18.- Melanosome membrane 1 1 Albinism, oculocutaneous, 3 13 1 5 1990-08-01 P19438 TNR1A_HUMAN TNFRSF1A Tumor necrosis factor receptor superfamily member 1A 455 50.5 12 Cell membrane; Golgi apparatus membrane; Secreted 1 2 Periodic fever, familial, autosomal dominant; Multiple sclerosis 5 13 1 5 1991-02-01 P21980 TGM2_HUMAN TGM2 Protein-glutamine gamma-glutamyltransferase 2 687 77.3 20 2.3.2.13 Cytoplasm; Nucleus; Chromosome; Secreted; Cell membrane; Mitochondrion 0 0 13 1 5 1991-08-01 P23416 GLRA2_HUMAN GLRA2 Glycine receptor subunit alpha-2 452 52 X Postsynaptic cell membrane; Synapse; Cell membrane; Cell projection 4 1 Intellectual developmental disorder, X-linked, syndromic, Pilorge type 13 1 5 1991-11-01 P35670 ATP7B_HUMAN ATP7B Copper-transporting ATPase 2 1465 157.3 13 7.2.2.8 Golgi apparatus; Late endosome 8 1 Wilson disease 13 1 5 1994-06-01 P36222 CH3L1_HUMAN CHI3L1 Chitinase-3-like protein 1 383 42.6 1 Secreted; Cytoplasm; Endoplasmic reticulum 0 2 Asthma-related traits 7; Schizophrenia 13 1 5 1994-06-01 P42566 EPS15_HUMAN EPS15 Epidermal growth factor receptor substrate 15 896 98.7 1 Cytoplasm; Cell membrane; Membrane 0 0 13 1 5 1995-11-01 P56470 LEG4_HUMAN LGALS4 Galectin-4 323 35.9 19 0 0 13 1 5 1998-07-15 P99999 CYC_HUMAN CYCS Cytochrome c 105 11.7 7 Mitochondrion intermembrane space 0 1 Thrombocytopenia 4 13 1 5 1986-07-21 Q03405 UPAR_HUMAN PLAUR Urokinase plasminogen activator surface receptor 335 37 19 Cell membrane; Cell projection 0 0 13 1 5 1994-02-01 Q10570 CPSF1_HUMAN CPSF1 Cleavage and polyadenylation specificity factor subunit 1 1443 160.9 8 Nucleus 0 1 Myopia 27, autosomal dominant 13 1 5 1996-10-01 Q8N138 ORML3_HUMAN ORMDL3 ORM1-like protein 3 153 17.5 17 Endoplasmic reticulum membrane 4 1 Asthma 13 1 5 2005-11-08 Q8TBC4 UBA3_HUMAN UBA3 NEDD8-activating enzyme E1 catalytic subunit 463 51.9 3 6.2.1.64 0 0 13 1 5 2004-07-19 Q969U7 PSMG2_HUMAN PSMG2 Proteasome assembly chaperone 2 264 29.4 18 Nucleus 0 1 Proteasome-associated autoinflammatory syndrome 4 13 1 5 2008-02-26 Q96CA5 BIRC7_HUMAN BIRC7 Baculoviral IAP repeat-containing protein 7 298 32.8 20 2.3.2.27 Nucleus; Cytoplasm; Golgi apparatus 0 0 13 1 5 2002-07-11 Q96GA3 LTV1_HUMAN LTV1 Protein LTV1 homolog 475 54.9 6 Cytoplasm 0 1 Inflammatory poikiloderma with hair abnormalities and acral keratoses 13 1 5 2007-09-11 Q9BXW9 FACD2_HUMAN FANCD2 Fanconi anemia group D2 protein 1451 164.1 3 Nucleus 0 1 Fanconi anemia complementation group D2 13 1 5 2005-06-07 Q9C0J8 WDR33_HUMAN WDR33 pre-mRNA 3' end processing protein WDR33 1336 145.9 2 Nucleus 0 0 13 1 5 2002-04-03 Q9UJQ4 SALL4_HUMAN SALL4 Sal-like protein 4 1053 112.2 20 Cytoplasm; Nucleus 0 2 Duane-radial ray syndrome; IVIC syndrome 13 1 5 2002-10-19 Q9Y5U8 MPC1_HUMAN MPC1 Mitochondrial pyruvate carrier 1 109 12.3 6 Mitochondrion inner membrane 3 1 Mitochondrial pyruvate carrier deficiency 13 1 5 2002-09-19 A8MT69 CENPX_HUMAN CENPX Centromere protein X 81 9 17 Nucleus; Chromosome 0 0 13 1 5 2008-05-20 O15234 CASC3_HUMAN CASC3 Protein CASC3 703 76.3 17 Cytoplasm; Nucleus; Nucleus speckle; Cell projection 0 0 13 1 5 2000-05-30 O95639 CPSF4_HUMAN CPSF4 Cleavage and polyadenylation specificity factor subunit 4 269 30.3 7 Nucleus 0 0 13 1 5 2003-10-24 P05109 S10A8_HUMAN S100A8 Protein S100-A8 93 10.8 1 Secreted; Cytoplasm; Cell membrane 0 0 13 1 5 1987-08-13 P06702 S10A9_HUMAN S100A9 Protein S100-A9 114 13.2 1 Secreted; Cytoplasm; Cell membrane 0 0 13 1 5 1988-01-01 P0DUB6 AMY1A_HUMAN AMY1A Alpha-amylase 1A 511 57.8 1 3.2.1.1 Secreted 0 0 13 1 5 2020-12-02 P10586 PTPRF_HUMAN PTPRF Receptor-type tyrosine-protein phosphatase F 1907 212.9 1 3.1.3.48 Membrane 1 1 Aplasia or hypoplasia of the breasts and/or nipples 2 13 1 5 1989-07-01 P20042 IF2B_HUMAN EIF2S2 Eukaryotic translation initiation factor 2 subunit 2 333 38.4 20 Cytoplasm 0 0 13 1 5 1991-02-01 P26599 PTBP1_HUMAN PTBP1 Polypyrimidine tract-binding protein 1 557 59.6 19 Nucleus; Cytoplasm 0 1 STAD syndrome 13 1 5 1992-08-01 P35226 BMI1_HUMAN BMI1 Polycomb complex protein BMI-1 326 36.9 10 Nucleus; Cytoplasm 0 0 13 1 5 1994-02-01 P43166 CAH7_HUMAN CA7 Carbonic anhydrase 7 264 29.7 16 4.2.1.1 Cytoplasm 0 0 13 1 5 1995-11-01 P48431 SOX2_HUMAN SOX2 Transcription factor SOX-2 317 34.3 3 Nucleus speckle; Cytoplasm; Nucleus 0 1 Microphthalmia, syndromic, 3 13 1 5 1996-02-01 P48546 GIPR_HUMAN GIPR Gastric inhibitory polypeptide receptor 466 53.2 19 Cell membrane 7 0 13 1 5 1996-02-01 P56696 KCNQ4_HUMAN KCNQ4 Potassium voltage-gated channel subfamily KQT member 4 695 77.1 1 Basal cell membrane 6 1 Deafness, autosomal dominant, 2A 13 1 5 1999-07-15 P78380 OLR1_HUMAN OLR1 Oxidized low-density lipoprotein receptor 1 273 31 12 Cell membrane; Membrane raft; Secreted 1 0 13 1 5 2005-08-16 P78563 RED1_HUMAN ADARB1 Double-stranded RNA-specific editase 1 741 80.8 21 3.5.4.37 Nucleus 0 1 Neurodevelopmental disorder with hypotonia, microcephaly, and seizures 13 1 5 1997-11-01 P98161 PKD1_HUMAN PKD1 Polycystin-1 4303 462.5 16 Cell membrane; Cell projection; Endoplasmic reticulum; Golgi apparatus; Vesicle; Secreted 11 1 Polycystic kidney disease 1 with or without polycystic liver disease 13 1 5 1996-10-01 Q04844 ACHE_HUMAN CHRNE Acetylcholine receptor subunit epsilon 493 54.7 17 Postsynaptic cell membrane; Cell membrane 4 3 Myasthenic syndrome, congenital, 4A, slow-channel; Myasthenic syndrome, congenital, 4B, fast-channel; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 13 1 5 1994-02-01 Q12959 DLG1_HUMAN DLG1 Disks large homolog 1 904 100.5 3 Cell membrane; Basolateral cell membrane; Endoplasmic reticulum membrane; Postsynaptic density; Synapse; Apical cell membrane; Cell junction; Cytoplasm 0 0 13 1 5 1997-11-01 Q13155 AIMP2_HUMAN AIMP2 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 320 35.3 7 Cytoplasm; Nucleus 0 1 Leukodystrophy, hypomyelinating, 17 13 1 5 1997-11-01 Q14181 DPOA2_HUMAN POLA2 DNA polymerase alpha subunit B 598 65.9 11 Nucleus 0 0 13 1 5 1999-07-15 Q7L0Y3 TM10C_HUMAN TRMT10C tRNA methyltransferase 10 homolog C 403 47.3 3 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 30 13 1 5 2007-11-13 Q8NB49 AT11C_HUMAN ATP11C Phospholipid-transporting ATPase IG 1132 129.5 X 7.6.2.1 Cell membrane; Endoplasmic reticulum membrane; Early endosome membrane; Recycling endosome membrane 10 1 Hemolytic anemia, congenital, X-linked 13 1 5 2003-04-30 Q96LA8 ANM6_HUMAN PRMT6 Protein arginine N-methyltransferase 6 375 41.9 1 2.1.1.319 Nucleus 0 0 13 1 5 2002-03-27 Q9NV35 NUD15_HUMAN NUDT15 Nucleotide triphosphate diphosphatase NUDT15 164 18.6 13 3.6.1.68, 3.6.1.76, 3.6.1.9 0 0 13 1 5 2005-07-05 Q9Y5X3 SNX5_HUMAN SNX5 Sorting nexin-5 404 46.8 20 Endosome; Early endosome; Early endosome membrane; Cell membrane; Cytoplasmic vesicle membrane; Cytoplasm; Cell projection 0 0 13 1 5 2000-12-01 O00625 PIR_HUMAN PIR Pirin 290 32.1 X 1.13.11.24 Nucleus; Cytoplasm 0 0 13 1 5 2001-06-01 O14646 CHD1_HUMAN CHD1 ATP-dependent chromatin remodeler CHD1 1710 196.7 5 3.6.4.- Nucleus; Cytoplasm 0 1 Pilarowski-Bjornsson syndrome 13 1 5 1998-07-15 O60229 KALRN_HUMAN KALRN Kalirin 2986 340.3 3 2.7.11.1 Cytoplasm 0 0 13 1 5 2000-12-01 O75084 FZD7_HUMAN FZD7 Frizzled-7 574 63.6 2 Cell membrane; Endosome membrane 7 0 13 1 5 2001-12-05 P01023 A2MG_HUMAN A2M Alpha-2-macroglobulin 1474 163.3 12 Secreted 0 0 13 1 5 1986-07-21 P01189 COLI_HUMAN POMC Pro-opiomelanocortin 267 29.4 2 Secreted 0 2 Obesity; Obesity, early-onset, with adrenal insufficiency and red hair 13 1 5 1986-07-21 P01563 IFNA2_HUMAN IFNA2 Interferon alpha-2 188 21.6 9 Secreted 0 0 13 1 5 1986-07-21 P06744 G6PI_HUMAN GPI Glucose-6-phosphate isomerase 558 63.1 19 5.3.1.9 Cytoplasm; Secreted 0 1 Anemia, congenital, non-spherocytic hemolytic, 4 13 1 5 1988-01-01 P09429 HMGB1_HUMAN HMGB1 High mobility group protein B1 215 24.9 13 Nucleus; Chromosome; Cytoplasm; Secreted; Cell membrane; Endosome; Endoplasmic reticulum-Golgi intermediate compartment 0 0 13 1 5 1989-07-01 P10321 HLAC_HUMAN HLA-C HLA class I histocompatibility antigen, C alpha chain 366 40.6 6 Cell membrane; Endoplasmic reticulum membrane 1 1 Psoriasis 1 13 1 5 1989-07-01 P15151 PVR_HUMAN PVR Poliovirus receptor 417 45.3 19 Cell membrane 1 0 13 1 5 1990-04-01 P20366 TKN1_HUMAN TAC1 Protachykinin-1 129 15 7 Secreted 0 0 13 1 5 1991-02-01 P25090 FPR2_HUMAN FPR2 N-formyl peptide receptor 2 351 39 19 Cell membrane 7 0 13 1 5 1992-05-01 P35225 IL13_HUMAN IL13 Interleukin-13 146 15.8 5 Secreted 0 1 Allergic rhinitis 13 1 5 1994-02-01 P38936 CDN1A_HUMAN CDKN1A Cyclin-dependent kinase inhibitor 1 164 18.1 6 Cytoplasm; Nucleus 0 0 13 1 5 1995-02-01 P68104 EF1A1_HUMAN EEF1A1 Elongation factor 1-alpha 1 462 50.1 6 3.6.5.- Cytoplasm; Nucleus; Cell membrane 0 0 13 1 5 1987-08-13 Q07001 ACHD_HUMAN CHRND Acetylcholine receptor subunit delta 517 58.9 2 Postsynaptic cell membrane; Cell membrane 4 4 Multiple pterygium syndrome, lethal type; Myasthenic syndrome, congenital, 3A, slow-channel; Myasthenic syndrome, congenital, 3B, fast-channel; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency 13 1 5 1994-06-01 Q10471 GALT2_HUMAN GALNT2 Polypeptide N-acetylgalactosaminyltransferase 2 571 64.7 1 2.4.1.41 Golgi apparatus; Secreted 1 1 Congenital disorder of glycosylation 2T 13 1 5 2004-08-16 Q15485 FCN2_HUMAN FCN2 Ficolin-2 313 34 9 Secreted; Cell surface 0 0 13 1 5 2001-02-21 Q92797 SYMPK_HUMAN SYMPK Symplekin 1274 141.1 19 Cytoplasm; Cell junction; Cell membrane; Nucleus 0 0 13 1 5 2000-12-01 Q9NPD8 UBE2T_HUMAN UBE2T Ubiquitin-conjugating enzyme E2 T 197 22.5 1 2.3.2.23 Nucleus 0 1 Fanconi anemia complementation group T 13 1 5 2005-08-16 Q9NPF5 DMAP1_HUMAN DMAP1 DNA methyltransferase 1-associated protein 1 467 53 1 Nucleus; Cytoplasm 0 0 13 1 5 2002-02-21 Q9UBP6 TRMB_HUMAN METTL1 tRNA (guanine-N(7)-)-methyltransferase 276 31.5 12 2.1.1.33 Nucleus 0 0 13 1 5 2003-06-20 Q9UQ13 SHOC2_HUMAN SHOC2 Leucine-rich repeat protein SHOC-2 582 64.9 10 Cytoplasm; Nucleus 0 1 Noonan syndrome-like disorder with loose anagen hair 1 13 1 5 2001-06-20 O43520 AT8B1_HUMAN ATP8B1 Phospholipid-transporting ATPase IC 1251 143.7 18 7.6.2.1 Cell membrane; Apical cell membrane; Cell projection; Endoplasmic reticulum; Golgi apparatus 10 3 Cholestasis, progressive familial intrahepatic, 1; Cholestasis, benign recurrent intrahepatic, 1; Cholestasis of pregnancy, intrahepatic 1 13 1 5 2000-05-30 P01033 TIMP1_HUMAN TIMP1 Metalloproteinase inhibitor 1 207 23.2 X Secreted 0 0 13 1 5 1986-07-21 P01133 EGF_HUMAN EGF Pro-epidermal growth factor 1207 134 4 Membrane 1 1 Hypomagnesemia 4 13 1 5 1986-07-21 P01160 ANF_HUMAN NPPA Natriuretic peptides A 151 16.4 1 Secreted 0 2 Atrial standstill 2; Atrial fibrillation, familial, 6 13 1 5 1986-07-21 P11230 ACHB_HUMAN CHRNB1 Acetylcholine receptor subunit beta 501 56.7 17 Postsynaptic cell membrane; Cell membrane 4 2 Myasthenic syndrome, congenital, 2A, slow-channel; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency 13 1 5 1989-07-01 P16144 ITB4_HUMAN ITGB4 Integrin beta-4 1822 202.2 17 Cell membrane; Cell junction 1 2 Epidermolysis bullosa, junctional 5A, intermediate; Epidermolysis bullosa, junctional 5B, with pyloric atresia 13 1 5 1990-04-01 P18887 XRCC1_HUMAN XRCC1 DNA repair protein XRCC1 633 69.5 19 Nucleus; Chromosome 0 1 Spinocerebellar ataxia, autosomal recessive, 26 13 1 5 1990-11-01 P26045 PTN3_HUMAN PTPN3 Tyrosine-protein phosphatase non-receptor type 3 913 104 9 3.1.3.48 Cell membrane; Cytoplasm 0 0 13 1 5 1992-05-01 P40879 S26A3_HUMAN SLC26A3 Chloride anion exchanger 764 84.5 7 Apical cell membrane; Membrane; Cell membrane 10 1 Diarrhea 1, secretory chloride, congenital 13 1 5 1995-02-01 P49916 DNLI3_HUMAN LIG3 DNA ligase 3 1009 112.9 17 6.5.1.1 Mitochondrion 0 1 Mitochondrial DNA depletion syndrome 20, MNGIE type 13 1 5 1996-10-01 P61086 UBE2K_HUMAN UBE2K Ubiquitin-conjugating enzyme E2 K 200 22.4 4 2.3.2.23 Cytoplasm 0 0 13 1 5 2004-04-26 Q13895 BYST_HUMAN BYSL Bystin 437 49.6 6 Cytoplasm; Nucleus 0 0 13 1 5 1998-12-15 Q5T4S7 UBR4_HUMAN UBR4 E3 ubiquitin-protein ligase UBR4 5183 573.8 1 2.3.2.27 Cytoplasm; Endosome; Nucleus 0 1 Episodic ataxia 8 13 1 5 2007-05-15 Q8N2Z9 CENPS_HUMAN CENPS Centromere protein S 138 15.9 1 Nucleus; Chromosome 0 0 13 1 5 2006-09-19 Q8TDX7 NEK7_HUMAN NEK7 Serine/threonine-protein kinase Nek7 302 34.6 1 2.7.11.34 Nucleus; Cytoplasm 0 0 13 1 5 2003-10-03 Q96QK1 VPS35_HUMAN VPS35 Vacuolar protein sorting-associated protein 35 796 91.7 16 Cytoplasm; Membrane; Endosome; Early endosome; Late endosome 0 1 Parkinson disease 17 13 1 5 2002-11-25 Q9ULK4 MED23_HUMAN MED23 Mediator of RNA polymerase II transcription subunit 23 1368 156.5 6 Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy 13 1 5 2003-02-22 Q9UNN8 EPCR_HUMAN PROCR Endothelial protein C receptor 238 26.7 20 Membrane 1 0 13 1 5 2001-04-27 Q9Y4K3 TRAF6_HUMAN TRAF6 TNF receptor-associated factor 6 522 59.6 11 2.3.2.27 Cytoplasm; Nucleus; Lipid droplet 0 0 13 1 5 2003-05-09 O43542 XRCC3_HUMAN XRCC3 DNA repair protein XRCC3 346 37.9 14 Nucleus; Cytoplasm; Mitochondrion 0 2 Breast cancer; Melanoma, cutaneous malignant 6 13 1 5 2002-04-03 O95456 PSMG1_HUMAN PSMG1 Proteasome assembly chaperone 1 288 32.9 21 Cytoplasm; Endoplasmic reticulum 0 0 13 1 5 2000-05-30 P04278 SHBG_HUMAN SHBG Sex hormone-binding globulin 402 43.8 17 Secreted 0 0 13 1 5 1987-03-20 P06493 CDK1_HUMAN CDK1 Cyclin-dependent kinase 1 297 34.1 10 2.7.11.22, 2.7.11.23 Nucleus; Cytoplasm; Mitochondrion 0 0 13 1 5 1988-01-01 P07204 TRBM_HUMAN THBD Thrombomodulin 575 60.3 20 Membrane 1 2 Thrombophilia due to thrombomodulin defect; Hemolytic uremic syndrome, atypical, 6 13 1 5 1988-04-01 P10147 CCL3_HUMAN CCL3 C-C motif chemokine 3 92 10.1 17 Secreted 0 0 13 1 5 1989-07-01 P10515 ODP2_HUMAN DLAT Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial 647 69 11 2.3.1.12 Mitochondrion matrix 0 1 Pyruvate dehydrogenase E2 deficiency 13 1 5 1989-07-01 P16452 EPB42_HUMAN EPB42 Protein 4.2 691 77 15 Cell membrane; Cytoplasm 0 1 Spherocytosis 5 13 1 5 1990-08-01 P17706 PTN2_HUMAN PTPN2 Tyrosine-protein phosphatase non-receptor type 2 415 48.5 18 3.1.3.48 Endoplasmic reticulum; Endoplasmic reticulum-Golgi intermediate compartment 0 0 13 1 5 1990-08-01 P20813 CP2B6_HUMAN CYP2B6 Cytochrome P450 2B6 491 56.3 19 1.14.13.- Endoplasmic reticulum membrane; Microsome membrane 0 0 13 1 5 1991-02-01 P22626 ROA2_HUMAN HNRNPA2B1 Heterogeneous nuclear ribonucleoproteins A2/B1 353 37.4 7 Nucleus; Cytoplasm; Cytoplasmic granule; Secreted 0 2 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2; Oculopharyngeal muscular dystrophy 2 13 1 5 1991-08-01 P23246 SFPQ_HUMAN SFPQ Splicing factor, proline- and glutamine-rich 707 76.1 1 Nucleus speckle; Nucleus matrix; Cytoplasm 0 0 13 1 5 1991-11-01 P23381 SYWC_HUMAN WARS1 Tryptophan--tRNA ligase, cytoplasmic 471 53.2 14 6.1.1.2 Cytoplasm 0 2 Neuronopathy, distal hereditary motor, autosomal dominant 9; Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities 13 1 5 1991-11-01 P25116 PAR1_HUMAN F2R Proteinase-activated receptor 1 425 47.4 5 Cell membrane 7 0 13 1 5 1992-05-01 P29218 IMPA1_HUMAN IMPA1 Inositol monophosphatase 1 277 30.2 8 3.1.3.25 Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 59 13 1 5 1992-12-01 P29401 TKT_HUMAN TKT Transketolase 623 67.9 3 2.2.1.1 0 1 Short stature, developmental delay, and congenital heart defects 13 1 5 1992-12-01 P29992 GNA11_HUMAN GNA11 Guanine nucleotide-binding protein subunit alpha-11 359 42.1 19 3.6.5.- Cell membrane; Cytoplasm 0 2 Hypocalciuric hypercalcemia, familial 2; Hypocalcemia, autosomal dominant 2 13 1 5 1993-04-01 P35228 NOS2_HUMAN NOS2 Nitric oxide synthase, inducible 1153 131.1 17 1.14.13.39 Cytoplasm 0 0 13 1 5 1994-02-01 P54829 PTN5_HUMAN PTPN5 Tyrosine-protein phosphatase non-receptor type 5 565 63.5 11 3.1.3.48 Endoplasmic reticulum membrane 2 0 13 1 5 1996-10-01 Q01970 PLCB3_HUMAN PLCB3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 1234 138.8 11 3.1.4.11 Cytoplasm; Membrane; Nucleus 0 1 Spondylometaphyseal dysplasia with corneal dystrophy 13 1 5 1993-07-01 Q14203 DCTN1_HUMAN DCTN1 Dynactin subunit 1 1278 141.7 2 Cytoplasm; Nucleus envelope 0 3 Neuronopathy, distal hereditary motor, autosomal dominant 14; Amyotrophic lateral sclerosis; Perry syndrome 13 1 5 1997-11-01 Q92889 XPF_HUMAN ERCC4 DNA repair endonuclease XPF 916 104.5 16 3.1.-.- Nucleus; Chromosome 0 4 Xeroderma pigmentosum complementation group F; XFE progeroid syndrome; Xeroderma pigmentosum type F/Cockayne syndrome; Fanconi anemia complementation group Q 13 1 5 1997-11-01 Q96L91 EP400_HUMAN EP400 E1A-binding protein p400 3159 343.5 12 3.6.4.- Nucleus 0 0 13 1 5 2004-11-23 Q99879 H2B1M_HUMAN H2BC14 Histone H2B type 1-M 126 14 6 Nucleus; Chromosome 0 0 13 1 5 2000-05-30 Q9BXH1 BBC3_HUMAN BBC3 Bcl-2-binding component 3, isoforms 1/2 193 20.5 19 Mitochondrion 0 0 13 1 5 2004-12-21 Q9UH17 ABC3B_HUMAN APOBEC3B DNA dC->dU-editing enzyme APOBEC-3B 382 45.9 22 3.5.4.38 Nucleus 0 0 13 1 5 2001-01-11 Q9UKV5 AMFR_HUMAN AMFR E3 ubiquitin-protein ligase AMFR 643 73 16 2.3.2.36 Endoplasmic reticulum membrane 7 1 Spastic paraplegia 89, autosomal recessive 13 1 5 2003-09-19 Q8NHY6 ZFP28_HUMAN ZFP28 Zinc finger protein 28 homolog 868 98.7 19 Nucleus 0 0 13 1 4 2003-08-04 Q5JVG2 ZN484_HUMAN ZNF484 Zinc finger protein 484 852 98.2 9 Nucleus 0 0 13 1 3 2006-05-02 O60741 HCN1_HUMAN HCN1 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 890 98.8 5 Cell membrane 6 2 Developmental and epileptic encephalopathy 24; Generalized epilepsy with febrile seizures plus 10 12 1 5 2003-02-28 P07998 RNAS1_HUMAN RNASE1 Ribonuclease pancreatic 156 17.6 14 4.6.1.18 Secreted 0 0 12 1 5 1988-08-01 P10619 PPGB_HUMAN CTSA Lysosomal protective protein 480 54.5 20 3.4.16.5 Lysosome 0 2 Galactosialidosis; Brain small vessel disease 6 with leukoencephalopathy 12 1 5 1989-07-01 P15104 GLNA_HUMAN GLUL Glutamine synthetase 373 42.1 1 6.3.1.2 Cytoplasm; Microsome; Mitochondrion; Cell membrane 0 2 Glutamine deficiency, congenital; Developmental and epileptic encephalopathy 116 12 1 5 1990-04-01 P23921 RIR1_HUMAN RRM1 Ribonucleoside-diphosphate reductase large subunit 792 90.1 11 1.17.4.1 Cytoplasm 0 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 12 1 5 1992-03-01 P31941 ABC3A_HUMAN APOBEC3A DNA dC->dU-editing enzyme APOBEC-3A 199 23 22 3.5.4.38 Nucleus; Cytoplasm 0 0 12 1 5 1993-07-01 P43681 ACHA4_HUMAN CHRNA4 Neuronal acetylcholine receptor subunit alpha-4 627 70 20 Synaptic cell membrane; Cell membrane 4 1 Epilepsy, nocturnal frontal lobe, 1 12 1 5 1995-11-01 P46100 ATRX_HUMAN ATRX Chromatin remodeler ATRX 2492 282.6 X 3.6.4.- Nucleus; Chromosome 0 3 Alpha-thalassemia/impaired intellectual development syndrome, X-linked; Intellectual disability-hypotonic facies syndrome, X-linked, 1; Alpha-thalassemia myelodysplasia syndrome 12 1 5 1995-11-01 P49790 NU153_HUMAN NUP153 Nuclear pore complex protein Nup153 1475 153.9 6 Nucleus; Nucleus membrane 0 0 12 1 5 1996-10-01 Q02108 GCYA1_HUMAN GUCY1A1 Guanylate cyclase soluble subunit alpha-1 690 77.5 4 4.6.1.2 Cytoplasm 0 1 Moyamoya disease 6 with or without achalasia 12 1 5 1993-07-01 Q13257 MD2L1_HUMAN MAD2L1 Mitotic spindle assembly checkpoint protein MAD2A 205 23.5 4 Nucleus; Chromosome; Cytoplasm 0 0 12 1 5 2001-01-11 Q13485 SMAD4_HUMAN SMAD4 SMAD family member 4 552 60.4 18 Cytoplasm; Nucleus 0 5 Pancreatic cancer; Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Colorectal cancer; Myhre syndrome 12 1 5 2001-05-04 Q14839 CHD4_HUMAN CHD4 ATP-dependent chromatin remodeler CHD4 1912 218 12 3.6.4.- Nucleus; Cytoplasm 0 1 Sifrim-Hitz-Weiss syndrome 12 1 5 1999-07-15 Q16777 H2A2C_HUMAN H2AC20 Histone H2A type 2-C 129 14 1 Nucleus; Chromosome 0 0 12 1 5 2001-01-24 Q16836 HCDH_HUMAN HADH Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial 314 34.3 4 1.1.1.35 Mitochondrion matrix 0 2 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4 12 1 5 1997-11-01 Q4U2R8 S22A6_HUMAN SLC22A6 Solute carrier family 22 member 6 563 61.8 11 Basolateral cell membrane; Basal cell membrane 12 0 12 1 5 2008-03-18 Q5NUL3 FFAR4_HUMAN FFAR4 Free fatty acid receptor 4 361 40.5 10 Cell membrane; Endosome membrane; Lysosome membrane 7 0 12 1 5 2005-05-10 Q92900 RENT1_HUMAN UPF1 Regulator of nonsense transcripts 1 1129 124.3 19 5.6.2.3, 5.6.2.5 Cytoplasm; Nucleus 0 0 12 1 5 2001-10-18 Q96JP0 FEM1C_HUMAN FEM1C Protein fem-1 homolog C 617 68.7 5 0 0 12 1 5 2008-03-18 Q9GZZ9 UBA5_HUMAN UBA5 Ubiquitin-like modifier-activating enzyme 5 404 44.9 3 Cytoplasm; Nucleus; Endoplasmic reticulum membrane; Golgi apparatus 0 2 Developmental and epileptic encephalopathy 44; Spinocerebellar ataxia, autosomal recessive, 24 12 1 5 2005-09-27 Q9NRR4 RNC_HUMAN DROSHA Ribonuclease 3 1374 159.3 5 3.1.26.3 Nucleus; Cytoplasm 0 0 12 1 5 2002-01-23 Q9UQB8 BAIP2_HUMAN BAIAP2 BAR/IMD domain-containing adapter protein 2 552 60.9 17 Cytoplasm; Membrane; Cell projection 0 1 Developmental and epileptic encephalopathy 120 12 1 5 2005-08-30 A6NJ78 MET15_HUMAN METTL15 12S rRNA N(4)-cytidine methyltransferase METTL15 407 46.1 11 2.1.1.- Mitochondrion matrix 0 0 12 1 5 2007-10-23 O60231 DHX16_HUMAN DHX16 Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 1041 119.3 6 3.6.4.13 Nucleus; Cytoplasm 0 1 Neuromuscular oculoauditory syndrome 12 1 5 1998-12-15 P07332 FES_HUMAN FES Tyrosine-protein kinase Fes/Fps 822 93.5 15 2.7.10.2 Cytoplasm; Cell membrane; Cytoplasmic vesicle; Golgi apparatus; Cell junction 0 0 12 1 5 1988-04-01 P11586 C1TC_HUMAN MTHFD1 C-1-tetrahydrofolate synthase, cytoplasmic 935 101.5 14 Cytoplasm 0 3 Neural tube defects, folate-sensitive; Colorectal cancer; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12 1 5 1989-10-01 P30044 PRDX5_HUMAN PRDX5 Peroxiredoxin-5, mitochondrial 214 22.1 11 1.11.1.24 Mitochondrion 0 0 12 1 5 1993-04-01 P49862 KLK7_HUMAN KLK7 Kallikrein-7 253 27.5 19 3.4.21.117 Secreted 0 0 12 1 5 1996-10-01 P50281 MMP14_HUMAN MMP14 Matrix metalloproteinase-14 582 65.9 14 3.4.24.80 Cell membrane; Melanosome; Cytoplasm 1 1 Winchester syndrome 12 1 5 1996-10-01 P51553 IDH3G_HUMAN IDH3G Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial 393 42.8 X Mitochondrion; Photoreceptor inner segment 0 1 Retinitis pigmentosa 99 12 1 5 1996-10-01 P53539 FOSB_HUMAN FOSB Protein FosB 338 35.9 19 Nucleus 0 0 12 1 5 1996-10-01 P58335 ANTR2_HUMAN ANTXR2 Anthrax toxin receptor 2 489 53.7 4 Cell membrane 1 1 Hyaline fibromatosis syndrome 12 1 5 2001-11-02 Q03468 ERCC6_HUMAN ERCC6 DNA excision repair protein ERCC-6 1493 168.4 10 3.6.4.- Nucleus; Chromosome 0 5 Cockayne syndrome B; Cerebro-oculo-facio-skeletal syndrome 1; De Sanctis-Cacchione syndrome; Macular degeneration, age-related, 5; UV-sensitive syndrome 1 12 1 5 1993-10-01 Q13421 MSLN_HUMAN MSLN Mesothelin 622 68.1 16 Cell membrane; Golgi apparatus 0 0 12 1 5 2000-05-30 Q13547 HDAC1_HUMAN HDAC1 Histone deacetylase 1 482 55.1 1 3.5.1.98 Nucleus 0 0 12 1 5 1997-11-01 Q14676 MDC1_HUMAN MDC1 Mediator of DNA damage checkpoint protein 1 2089 226.7 6 Nucleus; Chromosome 0 0 12 1 5 2005-07-05 Q2YD98 UVSSA_HUMAN UVSSA UV-stimulated scaffold protein A 709 80.6 4 Chromosome 0 1 UV-sensitive syndrome 3 12 1 5 2008-02-05 Q8N4H5 TOM5_HUMAN TOMM5 Mitochondrial import receptor subunit TOM5 homolog 51 6 9 Mitochondrion outer membrane 1 0 12 1 5 2006-04-04 Q96RN5 MED15_HUMAN MED15 Mediator of RNA polymerase II transcription subunit 15 788 86.8 22 Cytoplasm; Nucleus 0 0 12 1 5 2002-04-16 Q9BXJ9 NAA15_HUMAN NAA15 N-alpha-acetyltransferase 15, NatA auxiliary subunit 866 101.3 4 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities 12 1 5 2005-01-04 Q9H5Q4 TFB2M_HUMAN TFB2M Dimethyladenosine transferase 2, mitochondrial 396 45.3 1 2.1.1.- Mitochondrion 0 0 12 1 5 2007-01-23 Q9Y478 AAKB1_HUMAN PRKAB1 5'-AMP-activated protein kinase subunit beta-1 270 30.4 12 0 0 12 1 5 2001-06-01 O14867 BACH1_HUMAN BACH1 Transcription regulator protein BACH1 736 82 21 Nucleus 0 0 12 1 5 1998-07-15 O43451 MGA_HUMAN MGAM Maltase-glucoamylase 2753 312 7 Apical cell membrane 1 0 12 1 5 2000-05-30 O75030 MITF_HUMAN MITF Microphthalmia-associated transcription factor 526 58.8 3 Nucleus; Cytoplasm; Lysosome membrane 0 4 Waardenburg syndrome 2A; Tietz albinism-deafness syndrome; Melanoma, cutaneous malignant 8; Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12 1 5 2001-02-21 O96008 TOM40_HUMAN TOMM40 Mitochondrial import receptor subunit TOM40 homolog 361 37.9 19 Mitochondrion outer membrane 19 0 12 1 5 2001-01-11 P01236 PRL_HUMAN PRL Prolactin 227 25.9 6 Secreted 0 0 12 1 5 1986-07-21 P16471 PRLR_HUMAN PRLR Prolactin receptor 622 69.5 5 Membrane 1 2 Multiple fibroadenomas of the breast; Hyperprolactinemia 12 1 5 1990-08-01 P17948 VGFR1_HUMAN FLT1 Vascular endothelial growth factor receptor 1 1338 150.8 13 2.7.10.1 Cell membrane; Endosome 1 0 12 1 5 1990-11-01 P18509 PACA_HUMAN ADCYAP1 Pituitary adenylate cyclase-activating polypeptide 176 18.8 18 Secreted 0 0 12 1 5 1990-11-01 P22087 FBRL_HUMAN FBL rRNA 2'-O-methyltransferase fibrillarin 321 33.8 19 2.1.1.- Nucleus 0 0 12 1 5 1991-08-01 P32455 GBP1_HUMAN GBP1 Guanylate-binding protein 1 592 67.9 1 3.6.1.-, 3.6.5.- Cytoplasmic vesicle membrane; Golgi apparatus membrane; Cell membrane; Cytoplasm; Secreted 0 0 12 1 5 1993-10-01 P54727 RD23B_HUMAN RAD23B Lysine-specific demethylase RAD23B 409 43.2 9 1.14.11.- Nucleus; Cytoplasm 0 0 12 1 5 1996-10-01 P60484 PTEN_HUMAN PTEN Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN 403 47.2 10 3.1.3.16, 3.1.3.48, 3.1.3.67 Cytoplasm; Nucleus; Cell projection; Postsynaptic density 0 7 Cowden syndrome 1; Lhermitte-Duclos disease; Squamous cell carcinoma of the head and neck; Endometrial cancer; Glioma 2; Prostate cancer; Macrocephaly/autism syndrome 12 1 5 2004-02-16 P84022 SMAD3_HUMAN SMAD3 SMAD family member 3 425 48.1 15 Cytoplasm; Nucleus 0 2 Colorectal cancer; Loeys-Dietz syndrome 3 12 1 5 2004-07-05 Q13131 AAPK1_HUMAN PRKAA1 5'-AMP-activated protein kinase catalytic subunit alpha-1 559 64 5 2.7.11.1 Cytoplasm; Nucleus; Late endosome 0 0 12 1 5 1998-07-15 Q13330 MTA1_HUMAN MTA1 Metastasis-associated protein MTA1 715 80.8 14 Nucleus 0 0 12 1 5 1997-11-01 Q14126 DSG2_HUMAN DSG2 Desmoglein-2 1118 122.3 18 Cell membrane; Cell junction; Cytoplasm 1 2 Arrhythmogenic right ventricular dysplasia, familial, 10; Cardiomyopathy, dilated, 1BB 12 1 5 1997-11-01 Q16695 H31T_HUMAN H3-4 Histone H3.1t 136 15.5 1 Nucleus; Chromosome 0 0 12 1 5 2001-09-26 Q2MKA7 RSPO1_HUMAN RSPO1 R-spondin-1 263 29 1 Secreted; Nucleus 0 1 Keratoderma, palmoplantar, with squamous cell carcinoma of skin and sex reversal 12 1 5 2006-05-16 Q5T0W9 SCK1B_HUMAN SACK1B Scaffolding CK1 anchoring protein B 1011 114.8 6 Cytoplasm; Membrane 0 0 12 1 5 2007-08-21 Q9C000 NLRP1_HUMAN NLRP1 NACHT, LRR and PYD domains-containing protein 1 1473 165.9 17 3.4.-.-, 3.6.4.- Cytoplasm; Nucleus 0 4 Vitiligo-associated multiple autoimmune disease 1; Palmoplantar carcinoma, multiple self-healing; Autoinflammation with arthritis and dyskeratosis; Respiratory papillomatosis, juvenile recurrent, congenital 12 1 5 2001-10-18 Q9H3P7 GCP60_HUMAN ACBD3 Golgi resident protein GCP60 528 60.6 1 Golgi apparatus membrane; Mitochondrion 0 0 12 1 5 2004-08-16 Q9NSU2 TREX1_HUMAN TREX1 Three-prime repair exonuclease 1 314 33.2 3 3.1.11.2 Nucleus; Cytoplasm; Endoplasmic reticulum membrane 0 4 Aicardi-Goutieres syndrome 1; Systemic lupus erythematosus; Chilblain lupus 1; Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 12 1 5 2004-05-24 Q9NY97 B3GN2_HUMAN B3GNT2 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2 397 46 2 2.4.1.149 Golgi apparatus membrane 1 0 12 1 5 2001-02-21 Q9P0U1 TOM7_HUMAN TOMM7 Mitochondrial import receptor subunit TOM7 homolog 55 6.2 7 Mitochondrion outer membrane 1 1 Garg-Mishra progeroid syndrome 12 1 5 2000-12-01 Q9Y6M5 ZNT1_HUMAN SLC30A1 Proton-coupled zinc antiporter SLC30A1 507 55.3 1 Cell membrane; Basolateral cell membrane; Cytoplasmic vesicle membrane; Cytoplasm; Endoplasmic reticulum membrane; Golgi apparatus membrane; Nucleus membrane; Postsynaptic density 6 0 12 1 5 2000-05-30 O14607 UTY_HUMAN UTY Histone demethylase UTY 1347 149.5 Y 1.14.11.68 Nucleus 0 0 12 1 5 1999-07-15 O75936 BODG_HUMAN BBOX1 Gamma-butyrobetaine dioxygenase 387 44.7 11 1.14.11.1 Cytoplasm 0 0 12 1 5 1999-07-15 P04070 PROC_HUMAN PROC Vitamin K-dependent protein C 461 52.1 2 3.4.21.69 Secreted; Golgi apparatus; Endoplasmic reticulum 0 2 Thrombophilia due to protein C deficiency, autosomal dominant; Thrombophilia due to protein C deficiency, autosomal recessive 12 1 5 1986-11-01 P07477 TRY1_HUMAN PRSS1 Serine protease 1 247 26.6 7 3.4.21.4 Secreted 0 1 Pancreatitis, hereditary 12 1 5 1988-04-01 P0DTU4 TRBR2_HUMAN TRB T cell receptor beta chain MC.7.G5 315 35.5 Cell membrane 1 0 12 1 5 2020-06-17 P19440 GGT1_HUMAN GGT1 Glutathione hydrolase 1 proenzyme 569 61.4 22 3.4.19.13 Cell membrane 1 1 Glutathionuria 12 1 5 1991-02-01 P20231 TRYB2_HUMAN TPSB2 Tryptase beta-2 275 30.7 16 3.4.21.59 Secreted 0 0 12 1 5 1991-02-01 P22914 CRYGS_HUMAN CRYGS Gamma-crystallin S 178 21 3 0 1 Cataract 20, multiple types 12 1 5 1991-08-01 P31639 SC5A2_HUMAN SLC5A2 Sodium/glucose cotransporter 2 672 72.9 16 Apical cell membrane 14 1 Renal glucosuria 12 1 5 1993-07-01 P41595 5HT2B_HUMAN HTR2B 5-hydroxytryptamine receptor 2B 481 54.3 2 Cell membrane; Synapse 7 0 12 1 5 1995-11-01 P61244 MAX_HUMAN MAX Protein max 160 18.3 14 Nucleus; Cell projection 0 2 Pheochromocytoma; Polydactyly-macrocephaly syndrome 12 1 5 2004-05-10 Q01523 DEF5_HUMAN DEFA5 Defensin alpha 5 94 10.1 8 Secreted; Cytoplasmic vesicle 0 0 12 1 5 1993-07-01 Q06787 FMR1_HUMAN FMR1 Fragile X messenger ribonucleoprotein 1 632 71.2 X Cytoplasm; Perikaryon; Cell projection; Synapse; Postsynaptic cell membrane; Presynaptic cell membrane; Nucleus; Chromosome; Cell membrane 0 3 Fragile X syndrome; Fragile X tremor/ataxia syndrome; Premature ovarian failure 1 12 1 5 1994-06-01 Q12852 M3K12_HUMAN MAP3K12 Mitogen-activated protein kinase kinase kinase 12 859 93.2 12 2.7.11.25 Cytoplasm; Cell membrane 0 0 12 1 5 2001-09-26 Q15388 TOM20_HUMAN TOMM20 Mitochondrial import receptor subunit TOM20 homolog 145 16.3 1 Mitochondrion outer membrane 1 0 12 1 5 1997-11-01 Q495A1 TIGIT_HUMAN TIGIT T-cell immunoreceptor with Ig and ITIM domains 244 26.3 3 Cell membrane 1 0 12 1 5 2007-09-11 Q7L5Y6 DET1_HUMAN DET1 DET1 homolog 550 63.8 15 Nucleus 0 0 12 1 5 2004-11-23 Q96B49 TOM6_HUMAN TOMM6 Mitochondrial import receptor subunit TOM6 homolog 74 8 6 Mitochondrion outer membrane 1 0 12 1 5 2007-09-11 Q99584 S10AD_HUMAN S100A13 Protein S100-A13 98 11.5 1 Cytoplasm; Secreted 0 0 12 1 5 1997-11-01 Q99969 RARR2_HUMAN RARRES2 Retinoic acid receptor responder protein 2 163 18.6 7 Secreted 0 0 12 1 5 2000-05-30 Q9BPX6 MICU1_HUMAN MICU1 Calcium uptake protein 1, mitochondrial 476 54.4 10 Mitochondrion intermembrane space; Mitochondrion inner membrane 0 1 Myopathy with extrapyramidal signs 12 1 5 2008-03-18 Q9HA72 CAHM2_HUMAN CALHM2 Calcium homeostasis modulator protein 2 323 36.2 10 Cell membrane 4 0 12 1 5 2005-06-07 Q9NZ45 CISD1_HUMAN CISD1 CDGSH iron-sulfur domain-containing protein 1 108 12.2 10 Mitochondrion outer membrane 1 0 12 1 5 2002-11-25 O43157 PLXB1_HUMAN PLXNB1 Plexin-B1 2135 232.3 3 Cell membrane 1 0 12 1 5 2004-08-31 O75400 PR40A_HUMAN PRPF40A Pre-mRNA-processing factor 40 homolog A 957 108.8 2 Nucleus speckle; Nucleus matrix 0 0 12 1 5 2003-08-22 O95985 TOP3B_HUMAN TOP3B DNA topoisomerase 3-beta-1 862 96.7 22 5.6.2.1 0 0 12 1 5 2000-05-30 P00736 C1R_HUMAN C1R Complement C1r subcomponent 705 80.1 3.4.21.41 Secreted; Cell surface 0 1 Ehlers-Danlos syndrome, periodontal type, 1 12 1 5 1986-07-21 P0C0L4 CO4A_HUMAN C4A Complement C4-A 1744 192.8 6 Secreted; Synapse; Cell projection 0 2 Complement component 4A deficiency; Systemic lupus erythematosus 12 1 5 1986-07-21 P19525 E2AK2_HUMAN EIF2AK2 Interferon-induced, double-stranded RNA-activated protein kinase 551 62.1 2 2.7.11.1 Cytoplasm; Nucleus 0 2 Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome; Dystonia 33 12 1 5 1991-02-01 P21964 COMT_HUMAN COMT Catechol O-methyltransferase 271 30 22 2.1.1.6 Cytoplasm 1 1 Schizophrenia 12 1 5 1991-08-01 P32245 MC4R_HUMAN MC4R Melanocortin receptor 4 332 36.9 18 Cell membrane; Cell projection 7 1 Obesity 12 1 5 1993-10-01 P33316 DUT_HUMAN DUT Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial 252 26.6 15 3.6.1.23 Nucleus 0 1 Bone marrow failure and diabetes mellitus syndrome 12 1 5 1994-02-01 P41227 NAA10_HUMAN NAA10 N-alpha-acetyltransferase 10 235 26.5 X 2.3.1.255 Cytoplasm; Nucleus 0 2 N-terminal acetyltransferase deficiency; Microphthalmia, syndromic, 1 12 1 5 1995-02-01 P45974 UBP5_HUMAN USP5 Ubiquitin carboxyl-terminal hydrolase 5 858 95.8 12 3.4.19.12 Cytoplasm; Nucleus 0 0 12 1 5 1996-02-01 P48167 GLRB_HUMAN GLRB Glycine receptor subunit beta 497 56.1 4 Postsynaptic cell membrane; Synapse; Cell projection; Cell membrane; Cytoplasm 4 1 Hyperekplexia 2 12 1 5 1996-02-01 P55081 MFAP1_HUMAN MFAP1 Microfibrillar-associated protein 1 439 52 15 Nucleus 0 0 12 1 5 1996-10-01 Q02790 FKBP4_HUMAN FKBP4 Peptidyl-prolyl cis-trans isomerase FKBP4 459 51.8 12 5.2.1.8 Cytoplasm; Mitochondrion; Nucleus; Cell projection 0 0 12 1 5 1993-07-01 Q02817 MUC2_HUMAN MUC2 Mucin-2 5289 550.9 Secreted 0 0 12 1 5 1994-06-01 Q12923 PTN13_HUMAN PTPN13 Tyrosine-protein phosphatase non-receptor type 13 2485 276.9 4 3.1.3.48 Cytoplasm; Nucleus; Cell projection 0 0 12 1 5 2000-12-01 Q68CP4 HGNAT_HUMAN HGSNAT Heparan-alpha-glucosaminide N-acetyltransferase 663 73.3 8 2.3.1.78 Lysosome membrane 11 2 Mucopolysaccharidosis 3C; Retinitis pigmentosa 73 12 1 5 2007-01-23 Q8IYU8 MICU2_HUMAN MICU2 Calcium uptake protein 2, mitochondrial 434 49.7 13 Mitochondrion intermembrane space; Mitochondrion inner membrane 0 0 12 1 5 2006-10-03 Q96BN8 OTUL_HUMAN OTULIN Ubiquitin thioesterase otulin 352 40.3 5 3.4.19.12 Cytoplasm 0 3 Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive; Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant; Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection 12 1 5 2006-11-28 Q96J02 ITCH_HUMAN ITCH E3 ubiquitin-protein ligase Itchy homolog 903 102.8 20 2.3.2.26 Cell membrane; Cytoplasm; Nucleus; Early endosome membrane; Endosome membrane 0 1 Autoimmune disease, multisystem, with facial dysmorphism 12 1 5 2003-10-03 Q96SB4 SRPK1_HUMAN SRPK1 SRSF protein kinase 1 655 74.3 6 2.7.11.1 Cytoplasm; Nucleus; Nucleus speckle; Chromosome 0 0 12 1 5 2005-06-21 Q9GZV3 SC5A7_HUMAN SLC5A7 High affinity choline transporter 1 580 63.2 2 Presynaptic cell membrane; Cell projection; Early endosome membrane; Cytoplasmic vesicle 13 2 Neuronopathy, distal hereditary motor, autosomal dominant 7; Myasthenic syndrome, congenital, 20, presynaptic 12 1 5 2004-12-07 Q9NS69 TOM22_HUMAN TOMM22 Mitochondrial import receptor subunit TOM22 homolog 142 15.5 22 Mitochondrion outer membrane 1 0 12 1 5 2002-10-19 Q9NYG8 KCNK4_HUMAN KCNK4 Potassium channel subfamily K member 4 393 42.7 11 Cell membrane; Cell projection 4 1 Facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome 12 1 5 2001-02-21 Q9UQE7 SMC3_HUMAN SMC3 Structural maintenance of chromosomes protein 3 1217 141.5 10 Nucleus; Chromosome 0 1 Cornelia de Lange syndrome 3 with or without midline brain defects 12 1 5 2003-03-25 Q9Y275 TN13B_HUMAN TNFSF13B Tumor necrosis factor ligand superfamily member 13B 285 31.2 13 Cell membrane 1 0 12 1 5 2001-02-21 Q9Y279 VSIG4_HUMAN VSIG4 V-set and immunoglobulin domain-containing protein 4 399 44 X Membrane 1 0 12 1 5 2005-02-15 Q9Y3D6 FIS1_HUMAN FIS1 Mitochondrial fission 1 protein 152 16.9 7 Mitochondrion outer membrane; Peroxisome membrane 1 0 12 1 5 2003-07-19 Q9Y5K6 CD2AP_HUMAN CD2AP CD2-associated protein 639 71.5 6 Cytoplasm; Cell projection; Cell junction 0 1 Focal segmental glomerulosclerosis 3 12 1 5 2003-04-23 Q9Y6N7 ROBO1_HUMAN ROBO1 Roundabout homolog 1 1651 180.9 3 Cell membrane; Cell projection; Endoplasmic reticulum-Golgi intermediate compartment membrane 1 3 Neurooculorenal syndrome; Nystagmus 8, congenital, autosomal recessive; Pituitary hormone deficiency, combined or isolated, 8 12 1 5 2004-06-21 B7Z8K6 TRDC_HUMAN TRDC T cell receptor delta constant 153 17.1 Cell membrane 1 0 12 1 4 2010-04-20 Q7Z7J7 LHPL4_HUMAN LHFPL4 LHFPL tetraspan subfamily member 4 protein 247 27 3 Cell projection; Postsynaptic cell membrane 4 0 12 1 4 2007-05-01 A0A0B4J271 TVAL3_HUMAN TRAV12-3 T cell receptor alpha variable 12-3 114 13.2 14 Cell membrane 0 0 12 1 3 2018-02-28 O15541 R113A_HUMAN RNF113A E3 ubiquitin-protein ligase RNF113A 343 38.8 X 2.3.2.27 Nucleus; Nucleus speckle 0 1 Trichothiodystrophy 5, non-photosensitive 11 1 5 1998-07-15 O43719 HTSF1_HUMAN HTATSF1 17S U2 SnRNP complex component HTATSF1 755 85.9 X Nucleus; Chromosome 0 0 11 1 5 2006-09-05 O75390 CISY_HUMAN CS Citrate synthase, mitochondrial 466 51.7 12 2.3.3.1 Mitochondrion matrix 0 0 11 1 5 1999-07-15 O75554 WBP4_HUMAN WBP4 WW domain-binding protein 4 376 42.5 13 Nucleus; Nucleus speckle 0 1 Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities 11 1 5 2005-06-07 P02745 C1QA_HUMAN C1QA Complement C1q subcomponent subunit A 245 26 1 Secreted; Cell surface 0 1 C1q deficiency 1 11 1 5 1986-07-21 P02747 C1QC_HUMAN C1QC Complement C1q subcomponent subunit C 245 25.8 1 Secreted; Cell surface 0 1 C1q deficiency 3 11 1 5 1986-07-21 P08621 RU17_HUMAN SNRNP70 U1 small nuclear ribonucleoprotein 70 kDa 437 51.6 19 Nucleus speckle; Nucleus 0 0 11 1 5 1988-08-01 P13671 CO6_HUMAN C6 Complement component C6 934 104.8 5 Secreted; Target cell membrane 2 1 Complement component 6 deficiency 11 1 5 1990-01-01 P21796 VDAC1_HUMAN VDAC1 Non-selective voltage-gated ion channel VDAC1 283 30.8 5 Mitochondrion outer membrane; Cell membrane; Membrane raft 19 0 11 1 5 1991-05-01 P29353 SHC1_HUMAN SHC1 SHC-transforming protein 1 583 62.8 1 Cytoplasm; Cell junction 0 0 11 1 5 1992-12-01 P35555 FBN1_HUMAN FBN1 Fibrillin-1 2871 312.3 15 Secreted 0 8 Marfan syndrome; Ectopia lentis 1, isolated, autosomal dominant; Weill-Marchesani syndrome 2; Overlap connective tissue disease; Stiff skin syndrome; Geleophysic dysplasia 2; Acromicric dysplasia; Marfanoid-progeroid-lipodystrophy syndrome 11 1 5 1994-06-01 P48735 IDHP_HUMAN IDH2 Isocitrate dehydrogenase [NADP], mitochondrial 452 50.9 15 1.1.1.42 Mitochondrion 0 2 D-2-hydroxyglutaric aciduria 2; Glioma 11 1 5 1996-02-01 P49019 HCAR3_HUMAN HCAR3 Hydroxycarboxylic acid receptor 3 387 44.5 12 Cell membrane 7 0 11 1 5 1996-02-01 P62258 1433E_HUMAN YWHAE 14-3-3 protein epsilon 255 29.2 17 Nucleus; Cytoplasm; Melanosome 0 0 11 1 5 2004-07-05 P98194 AT2C1_HUMAN ATP2C1 Calcium-transporting ATPase type 2C member 1 919 100.6 3 7.2.2.10 Golgi apparatus 10 1 Hailey-Hailey disease 11 1 5 2000-05-30 Q08945 SSRP1_HUMAN SSRP1 FACT complex subunit SSRP1 709 81.1 11 Nucleus; Chromosome 0 0 11 1 5 1995-02-01 Q13111 CAF1A_HUMAN CHAF1A Chromatin assembly factor 1 subunit A 956 106.9 19 Nucleus 0 0 11 1 5 2001-10-18 Q15811 ITSN1_HUMAN ITSN1 Intersectin-1 1721 195.4 21 Endomembrane system; Synapse; Cell projection; Cell membrane; Membrane; Recycling endosome; Endosome; Cytoplasmic vesicle 0 0 11 1 5 1997-11-01 Q6NW40 RGMB_HUMAN RGMB Repulsive guidance molecule B 437 47.5 5 Cell membrane; Membrane raft 0 0 11 1 5 2004-08-16 Q8IY81 SPB1_HUMAN FTSJ3 pre-rRNA 2'-O-ribose RNA methyltransferase FTSJ3 847 96.6 17 2.1.1.- Nucleus 0 0 11 1 5 2005-08-16 Q8TAX9 GSDMB_HUMAN GSDMB Gasdermin-B 416 47.3 17 Cytoplasm 4 0 11 1 5 2008-04-08 Q8TCS8 PNPT1_HUMAN PNPT1 Polyribonucleotide nucleotidyltransferase 1, mitochondrial 783 86 2 2.7.7.8 Cytoplasm; Mitochondrion matrix; Mitochondrion intermembrane space 0 3 Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration; Spinocerebellar ataxia 25 11 1 5 2005-05-10 Q96RT1 ERBIN_HUMAN ERBIN Erbin 1412 158.3 5 Cell junction; Nucleus membrane; Basolateral cell membrane; Cytoplasm; Cell membrane 0 0 11 1 5 2004-07-19 Q9BUE0 MED18_HUMAN MED18 Mediator of RNA polymerase II transcription subunit 18 208 23.7 1 Nucleus 0 0 11 1 5 2007-09-11 Q9H204 MED28_HUMAN MED28 Mediator of RNA polymerase II transcription subunit 28 178 19.5 4 Nucleus; Cytoplasm; Membrane 0 0 11 1 5 2005-02-01 Q9UBU8 MO4L1_HUMAN MORF4L1 Mortality factor 4-like protein 1 362 41.5 15 Nucleus 0 0 11 1 5 2000-12-01 Q9UIQ6 LCAP_HUMAN LNPEP Leucyl-cystinyl aminopeptidase 1025 117.3 5 3.4.11.3 Cell membrane 1 0 11 1 5 2002-03-27 Q9ULV1 FZD4_HUMAN FZD4 Frizzled-4 537 59.9 11 Cell membrane 7 1 Vitreoretinopathy, exudative 1 11 1 5 2001-12-05 Q9Y244 POMP_HUMAN POMP Proteasome maturation protein 141 15.8 13 Cytoplasm; Nucleus; Microsome membrane 0 2 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma; Proteasome-associated autoinflammatory syndrome 2 11 1 5 2006-07-25 Q9Y2C4 EXOG_HUMAN EXOG Nuclease EXOG, mitochondrial 368 41.1 3 3.1.30.- Mitochondrion inner membrane 0 0 11 1 5 2001-09-26 O15357 SHIP2_HUMAN INPPL1 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 1258 138.6 11 3.1.3.86 Cytoplasm; Membrane; Cell projection; Basal cell membrane; Nucleus; Nucleus speckle 0 1 Opsismodysplasia 11 1 5 2007-09-11 O15552 FFAR2_HUMAN FFAR2 Free fatty acid receptor 2 330 37.1 19 Cell membrane 7 0 11 1 5 1998-07-15 O43447 PPIH_HUMAN PPIH Peptidyl-prolyl cis-trans isomerase H 177 19.2 1 5.2.1.8 Nucleus speckle; Cytoplasm 0 0 11 1 5 2003-09-26 O43614 OX2R_HUMAN HCRTR2 Orexin receptor type 2 444 50.7 6 Cell membrane 7 0 11 1 5 2000-05-30 O75586 MED6_HUMAN MED6 Mediator of RNA polymerase II transcription subunit 6 246 28.4 14 Nucleus 0 0 11 1 5 2003-02-28 O95149 SPN1_HUMAN SNUPN Snurportin-1 360 41.1 15 Nucleus; Cytoplasm 0 1 Muscular dystrophy, limb-girdle, autosomal recessive 29 11 1 5 2005-12-06 P00750 TPA_HUMAN PLAT Tissue-type plasminogen activator 562 62.9 8 3.4.21.68 Secreted 0 0 11 1 5 1986-07-21 P01135 TGFA_HUMAN TGFA Protransforming growth factor alpha 160 17 2 Secreted 1 0 11 1 5 1986-07-21 P01594 KV133_HUMAN IGKV1-33 Immunoglobulin kappa variable 1-33 117 12.8 2 Secreted; Cell membrane 0 0 11 1 5 1986-07-21 P02461 CO3A1_HUMAN COL3A1 Collagen alpha-1(III) chain 1466 138.6 2 Secreted 0 2 Ehlers-Danlos syndrome, vascular type; Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 11 1 5 1986-07-21 P10912 GHR_HUMAN GHR Growth hormone receptor 638 71.5 5 Cell membrane 1 2 Laron syndrome; Growth hormone insensitivity, partial 11 1 5 1989-07-01 P12272 PTHR_HUMAN PTHLH Parathyroid hormone-related protein 177 20.2 12 Secreted; Cytoplasm; Nucleus 0 1 Brachydactyly E2 11 1 5 1989-10-01 P13631 RARG_HUMAN RARG Retinoic acid receptor gamma 454 50.3 12 Nucleus; Cytoplasm 0 0 11 1 5 1990-01-01 P14598 NCF1_HUMAN NCF1 Neutrophil cytosol factor 1 390 44.7 7 Cytoplasm; Membrane 0 1 Granulomatous disease, chronic, autosomal recessive, 1 11 1 5 1990-04-01 P15531 NDKA_HUMAN NME1 Nucleoside diphosphate kinase A 152 17.1 17 2.7.4.6 Cytoplasm; Nucleus; Cell membrane 0 0 11 1 5 1990-04-01 P26012 ITB8_HUMAN ITGB8 Integrin beta-8 769 85.6 7 Cell membrane 1 0 11 1 5 1992-05-01 P28161 GSTM2_HUMAN GSTM2 Glutathione S-transferase Mu 2 218 25.7 1 2.5.1.18 Cytoplasm 0 0 11 1 5 1993-04-01 P35475 IDUA_HUMAN IDUA Alpha-L-iduronidase 653 72.7 4 3.2.1.76 Lysosome 0 3 Mucopolysaccharidosis 1H; Mucopolysaccharidosis 1H/S; Mucopolysaccharidosis 1S 11 1 5 1994-06-01 P36888 FLT3_HUMAN FLT3 Receptor-type tyrosine-protein kinase FLT3 993 112.9 13 2.7.10.1 Membrane; Endoplasmic reticulum lumen 1 1 Leukemia, acute myelogenous 11 1 5 1994-06-01 P39086 GRIK1_HUMAN GRIK1 Glutamate receptor ionotropic, kainate 1 918 104 21 Cell membrane; Postsynaptic cell membrane 3 0 11 1 5 1995-02-01 P50542 PEX5_HUMAN PEX5 Peroxisomal targeting signal 1 receptor 639 70.9 12 Cytoplasm; Peroxisome matrix 0 3 Peroxisome biogenesis disorder 2A; Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata 5 11 1 5 1996-10-01 P51159 RB27A_HUMAN RAB27A Ras-related protein Rab-27A 221 24.9 15 3.6.5.2 Membrane; Melanosome; Late endosome; Lysosome 0 1 Griscelli syndrome 2 11 1 5 1996-10-01 P51610 HCFC1_HUMAN HCFC1 Host cell factor 1 2035 208.7 X Cytoplasm; Nucleus 0 1 Methylmalonic aciduria and homocystinuria, cblX type 11 1 5 1996-10-01 Q00604 NDP_HUMAN NDP Norrin 133 15 X Secreted 0 2 Norrie disease; Vitreoretinopathy, exudative 2 11 1 5 1994-06-01 Q08188 TGM3_HUMAN TGM3 Protein-glutamine gamma-glutamyltransferase E 693 76.6 20 2.3.2.13 Cytoplasm 0 1 Uncombable hair syndrome 2 11 1 5 1995-02-01 Q13188 STK3_HUMAN STK3 Serine/threonine-protein kinase 3 491 56.3 8 2.7.11.1 Cytoplasm; Nucleus 0 0 11 1 5 2001-02-21 Q13363 CTBP1_HUMAN CTBP1 C-terminal-binding protein 1 440 47.5 4 1.1.1.- Cytoplasm; Nucleus 0 1 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 11 1 5 1998-07-15 Q13469 NFAC2_HUMAN NFATC2 Nuclear factor of activated T-cells, cytoplasmic 2 925 100.1 20 Cytoplasm; Nucleus 0 1 Joint contractures, osteochondromas, and B-cell lymphoma 11 1 5 2000-12-01 Q14028 CNGB1_HUMAN CNGB1 Cyclic nucleotide-gated channel beta-1 1251 139.7 16 Photoreceptor outer segment membrane; Cell projection 7 1 Retinitis pigmentosa 45 11 1 5 1997-11-01 Q15078 CD5R1_HUMAN CDK5R1 Cyclin-dependent kinase 5 activator 1 307 34.1 17 Cell membrane; Cell projection 0 0 11 1 5 1997-11-01 Q6P6C2 ALKB5_HUMAN ALKBH5 RNA demethylase ALKBH5 394 44.3 17 1.14.11.53 Nucleus speckle; Nucleus 0 0 11 1 5 2006-05-30 Q7Z434 MAVS_HUMAN MAVS Mitochondrial antiviral-signaling protein 540 56.5 20 Mitochondrion outer membrane; Mitochondrion; Peroxisome 1 0 11 1 5 2004-05-10 Q86W47 KCMB4_HUMAN KCNMB4 Calcium-activated potassium channel subunit beta-4 210 23.9 12 Membrane 2 0 11 1 5 2004-04-13 Q96NC0 ZMAT2_HUMAN ZMAT2 Zinc finger matrin-type protein 2 199 23.6 5 Nucleus 0 0 11 1 5 2004-09-27 Q96QV1 HHIP_HUMAN HHIP Hedgehog-interacting protein 700 78.9 4 Cell membrane; Secreted 0 0 11 1 5 2005-04-12 Q99418 CYH2_HUMAN CYTH2 Cytohesin-2 400 46.5 19 Cell membrane; Cytoplasm; Cell projection; Cell junction 0 0 11 1 5 1998-07-15 Q99728 BARD1_HUMAN BARD1 BRCA1-associated RING domain protein 1 777 86.6 2 2.3.2.27 Nucleus 0 0 11 1 5 2001-02-21 Q9BX66 SRBS1_HUMAN SORBS1 Sorbin and SH3 domain-containing protein 1 1292 142.5 10 Cell junction; Cell membrane; Cytoplasm; Nucleus; Nucleus matrix 0 0 11 1 5 2004-08-31 Q9BZX2 UCK2_HUMAN UCK2 Uridine-cytidine kinase 2 261 29.3 1 2.7.1.48 0 0 11 1 5 2002-05-02 Q9H3S7 PTN23_HUMAN PTPN23 Tyrosine-protein phosphatase non-receptor type 23 1636 179 3 3.1.3.48 Nucleus; Cytoplasm; Cytoplasmic vesicle; Endosome; Early endosome 0 1 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 11 1 5 2005-06-21 Q9H7D0 DOCK5_HUMAN DOCK5 Dedicator of cytokinesis protein 5 1870 215.3 8 Cytoplasm; Cell membrane; Cell projection 0 0 11 1 5 2003-07-03 Q9H8S9 MOB1A_HUMAN MOB1A MOB kinase activator 1A 216 25.1 2 0 0 11 1 5 2004-12-21 Q9UHV8 PP13_HUMAN LGALS13 Galactoside-binding soluble lectin 13 139 16.1 19 Cytoplasm; Nucleus matrix; Secreted 0 0 11 1 5 2004-01-16 Q9Y450 HBS1L_HUMAN HBS1L HBS1-like protein 684 75.5 6 3.6.5.- Cytoplasm 0 0 11 1 5 2005-05-10 O14807 RASM_HUMAN MRAS Ras-related protein M-Ras 208 23.8 3 3.6.5.2 Cell membrane 0 1 Noonan syndrome 11 11 1 5 2000-05-30 O15553 MEFV_HUMAN MEFV Pyrin 781 86.4 16 Cytoplasm; Cell projection; Nucleus; Cytoplasmic vesicle 0 3 Familial Mediterranean fever, autosomal recessive; Familial Mediterranean fever, autosomal dominant; Pyrin-associated autoinflammatory disease 11 1 5 2000-12-01 O60244 MED14_HUMAN MED14 Mediator of RNA polymerase II transcription subunit 14 1454 160.6 X Nucleus 0 0 11 1 5 2003-02-22 O60313 OPA1_HUMAN OPA1 Dynamin-like GTPase OPA1, mitochondrial 960 111.6 3 3.6.5.5 Mitochondrion inner membrane 1 5 Optic atrophy 1; Optic atrophy plus syndrome; Behr syndrome; Mitochondrial DNA depletion syndrome 14B, cardioencephalomyopathic type; Mitochondrial DNA depletion syndrome 14A, encephalomyopathic type 11 1 5 2001-09-26 P01034 CYTC_HUMAN CST3 Cystatin-C 146 15.8 20 Secreted 0 3 Cerebral amyloid angiopathy, CST3-related; Macular degeneration, age-related, 11; Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy 11 1 5 1986-07-21 P04141 CSF2_HUMAN CSF2 Granulocyte-macrophage colony-stimulating factor 144 16.3 5 Secreted 0 0 11 1 5 1986-11-01 P07996 TSP1_HUMAN THBS1 Thrombospondin-1 1170 129.4 15 Secreted; Cell surface; Endoplasmic reticulum; Sarcoplasmic reticulum 0 0 11 1 5 1988-08-01 P11511 CP19A_HUMAN CYP19A1 Aromatase 503 57.9 15 1.14.14.14 Endoplasmic reticulum membrane; Microsome membrane 2 2 Aromatase excess syndrome; Aromatase deficiency 11 1 5 1989-10-01 P11926 DCOR_HUMAN ODC1 Ornithine decarboxylase 461 51.1 2 4.1.1.17 0 1 Bachmann-Bupp syndrome 11 1 5 1989-10-01 P12724 ECP_HUMAN RNASE3 Eosinophil cationic protein 160 18.4 14 3.1.27.- Secreted 0 0 11 1 5 1989-10-01 P14416 DRD2_HUMAN DRD2 Dopamine receptor D2 443 50.6 11 Postsynaptic cell membrane; Cell membrane; Golgi apparatus membrane 7 0 11 1 5 1990-01-01 P24385 CCND1_HUMAN CCND1 G1/S-specific cyclin-D1 295 33.7 11 Nucleus; Cytoplasm; Nucleus membrane 0 1 Multiple myeloma 11 1 5 1992-03-01 P30793 GCH1_HUMAN GCH1 GTP cyclohydrolase 1 250 27.9 14 3.5.4.16 Cytoplasm; Nucleus 0 2 Hyperphenylalaninemia, BH4-deficient, B; Dystonia, dopa-responsive 11 1 5 1993-07-01 P30990 NEUT_HUMAN NTS Neurotensin/neuromedin N 170 19.8 12 Secreted; Cytoplasmic vesicle 0 0 11 1 5 1993-07-01 P41586 PACR_HUMAN ADCYAP1R1 Pituitary adenylate cyclase-activating polypeptide type I receptor 468 53.3 7 Cell membrane 7 0 11 1 5 1995-11-01 P42285 MTREX_HUMAN MTREX Exosome RNA helicase MTR4 1042 117.8 5 3.6.4.13 Nucleus; Nucleus speckle 0 0 11 1 5 1995-11-01 P50225 ST1A1_HUMAN SULT1A1 Sulfotransferase 1A1 295 34.2 16 2.8.2.1 Cytoplasm 0 0 11 1 5 1996-10-01 P50440 GATM_HUMAN GATM Glycine amidinotransferase, mitochondrial 423 48.5 15 2.1.4.1 Mitochondrion inner membrane 0 2 Cerebral creatine deficiency syndrome 3; Fanconi renotubular syndrome 1 11 1 5 1996-10-01 Q00653 NFKB2_HUMAN NFKB2 Nuclear factor NF-kappa-B p100 subunit 900 96.7 10 Nucleus; Cytoplasm 0 1 Immunodeficiency, common variable, 10 11 1 5 1993-10-01 Q14376 GALE_HUMAN GALE UDP-glucose 4-epimerase 348 38.3 1 5.1.3.2 0 2 Galactosemia 3; Thrombocytopenia 13, syndromic 11 1 5 1997-11-01 Q15717 ELAV1_HUMAN ELAVL1 ELAV-like protein 1 326 36.1 19 Cytoplasm; Nucleus 0 0 11 1 5 2001-02-21 Q6P2C8 MED27_HUMAN MED27 Mediator of RNA polymerase II transcription subunit 27 311 35.4 9 Nucleus 0 1 Neurodevelopmental disorder with spasticity, cataracts, and cerebellar atrophy 11 1 5 2005-11-08 Q7KZF4 SND1_HUMAN SND1 Staphylococcal nuclease domain-containing protein 1 910 102 7 3.1.31.1 Cytoplasm; Nucleus; Melanosome 0 0 11 1 5 2005-02-01 Q7Z2E3 APTX_HUMAN APTX Aprataxin 356 40.7 9 3.6.1.71, 3.6.1.72 Nucleus 0 1 Ataxia-oculomotor apraxia syndrome 11 1 5 2004-06-07 Q8TDQ0 HAVR2_HUMAN HAVCR2 Hepatitis A virus cellular receptor 2 301 33.4 5 Cell membrane; Cell junction 1 1 T-cell lymphoma, subcutaneous panniculitis-like 11 1 5 2005-09-27 Q96C86 DCPS_HUMAN DCPS m7GpppX diphosphatase 337 38.6 11 3.6.1.59 Cytoplasm; Nucleus 0 1 Al-Raqad syndrome 11 1 5 2005-03-01 Q96G25 MED8_HUMAN MED8 Mediator of RNA polymerase II transcription subunit 8 268 29.1 1 Nucleus 0 0 11 1 5 2003-05-23 Q96ST2 IWS1_HUMAN IWS1 Protein IWS1 homolog 819 92 2 Nucleus 0 0 11 1 5 2006-01-10 Q9BYM8 HOIL1_HUMAN RBCK1 RanBP-type and C3HC4-type zinc finger-containing protein 1 510 57.6 20 2.3.2.31 0 1 Polyglucosan body myopathy 1 with or without immunodeficiency 11 1 5 2001-09-26 Q9GZV5 WWTR1_HUMAN WWTR1 WW domain-containing transcription regulator protein 1 400 44.1 3 Nucleus; Cytoplasm; Cell membrane; Cell junction 0 0 11 1 5 2005-06-07 Q9H944 MED20_HUMAN MED20 Mediator of RNA polymerase II transcription subunit 20 212 23.2 6 Nucleus 0 0 11 1 5 2003-03-28 Q9NVP1 DDX18_HUMAN DDX18 ATP-dependent RNA helicase DDX18 670 75.4 2 3.6.4.13 Nucleus; Chromosome 0 0 11 1 5 2001-02-21 Q9UKK3 PARP4_HUMAN PARP4 Protein mono-ADP-ribosyltransferase PARP4 1724 192.6 13 2.4.2.- Cytoplasm; Nucleus 0 0 11 1 5 2001-09-26 O00308 WWP2_HUMAN WWP2 NEDD4-like E3 ubiquitin-protein ligase WWP2 870 98.9 16 2.3.2.26 Nucleus 0 0 11 1 5 2003-06-20 O00763 ACACB_HUMAN ACACB Acetyl-CoA carboxylase 2 2458 276.5 12 6.4.1.2 Mitochondrion 0 0 11 1 5 1997-11-01 O15075 DCLK1_HUMAN DCLK1 Serine/threonine-protein kinase DCLK1 740 82.2 13 2.7.11.1 0 0 11 1 5 2000-05-30 O43396 TXNL1_HUMAN TXNL1 Thioredoxin-like protein 1 289 32.3 18 Cytoplasm; Nucleus 0 0 11 1 5 2001-10-18 P02746 C1QB_HUMAN C1QB Complement C1q subcomponent subunit B 253 26.7 1 Secreted; Cell surface 0 1 C1q deficiency 2 11 1 5 1986-07-21 P02760 AMBP_HUMAN AMBP Protein AMBP 352 39 9 Secreted; Endoplasmic reticulum; Cytoplasm; Cell membrane; Nucleus membrane; Mitochondrion inner membrane 0 0 11 1 5 1986-07-21 P08397 HEM3_HUMAN HMBS Porphobilinogen deaminase 361 39.3 11 2.5.1.61 Cytoplasm 0 3 Acute intermittent porphyria; Encephalopathy, porphyria-related; Leukoencephalopathy, porphyria-related 11 1 5 1988-08-01 P10600 TGFB3_HUMAN TGFB3 Transforming growth factor beta-3 proprotein 412 47.3 14 Secreted 0 2 Arrhythmogenic right ventricular dysplasia, familial, 1; Loeys-Dietz syndrome 5 11 1 5 1989-07-01 P11509 CP2A6_HUMAN CYP2A6 Cytochrome P450 2A6 494 56.5 19 1.14.14.- Endoplasmic reticulum membrane; Microsome membrane 0 0 11 1 5 1986-07-21 P18754 RCC1_HUMAN RCC1 Regulator of chromosome condensation 421 45 1 Nucleus; Chromosome; Cytoplasm 0 1 Infection-induced acute-onset axonal neuropathy 11 1 5 1990-11-01 P20062 TCO2_HUMAN TCN2 Transcobalamin-2 427 47.5 22 Secreted 0 1 Transcobalamin II deficiency 11 1 5 1991-02-01 P30622 CLIP1_HUMAN CLIP1 CAP-Gly domain-containing linker protein 1 1438 162.2 12 Cytoplasm; Cytoplasmic vesicle membrane; Cell projection 0 0 11 1 5 1993-04-01 P36873 PP1G_HUMAN PPP1CC Serine/threonine-protein phosphatase PP1-gamma catalytic subunit 323 37 12 3.1.3.16 Cytoplasm; Nucleus; Nucleus speckle; Chromosome; Cleavage furrow; Midbody; Mitochondrion 0 0 11 1 5 1994-06-01 P55735 SEC13_HUMAN SEC13 Protein SEC13 homolog 322 35.5 3 Cytoplasmic vesicle; Endoplasmic reticulum membrane; Nucleus; Lysosome membrane 0 0 11 1 5 1997-11-01 P58753 TIRAP_HUMAN TIRAP Toll/interleukin-1 receptor domain-containing adapter protein 221 23.9 11 Cytoplasm; Cell membrane; Membrane 0 0 11 1 5 2002-03-27 P61812 TGFB2_HUMAN TGFB2 Transforming growth factor beta-2 proprotein 414 47.7 1 Secreted 0 2 Loeys-Dietz syndrome 4; Camurati-Engelmann disease 2 11 1 5 1988-08-01 Q01484 ANK2_HUMAN ANK2 Ankyrin-2 3957 433.7 4 Cytoplasm; Membrane; Apical cell membrane; Cell membrane; Postsynaptic cell membrane; Early endosome; Recycling endosome; Lysosome; Mitochondrion; Photoreceptor inner segment membrane 0 1 Long QT syndrome 4 11 1 5 1993-04-01 Q02297 NRG1_HUMAN NRG1 Pro-neuregulin-1, membrane-bound isoform 640 70.4 8 Cell membrane 1 0 11 1 5 2000-12-01 Q07890 SOS2_HUMAN SOS2 Son of sevenless homolog 2 1332 153 14 0 1 Noonan syndrome 9 11 1 5 1999-07-15 Q07960 RHG01_HUMAN ARHGAP1 Rho GTPase-activating protein 1 439 50.4 11 Cytoplasm 0 0 11 1 5 1998-07-15 Q12778 FOXO1_HUMAN FOXO1 Forkhead box protein O1 655 69.7 13 Cytoplasm; Nucleus 0 1 Rhabdomyosarcoma 2 11 1 5 1997-11-01 Q13112 CAF1B_HUMAN CHAF1B Chromatin assembly factor 1 subunit B 559 61.5 21 Nucleus; Cytoplasm 0 0 11 1 5 1998-07-15 Q14973 NTCP_HUMAN SLC10A1 Hepatic sodium/bile acid cotransporter 349 38.1 14 Cell membrane 9 1 Hypercholanemia, familial, 2 11 1 5 1997-11-01 Q15528 MED22_HUMAN MED22 Mediator of RNA polymerase II transcription subunit 22 200 22.2 9 Nucleus 0 0 11 1 5 1997-11-01 Q16853 AOC3_HUMAN AOC3 Amine oxidase [copper-containing] 3 763 84.6 17 1.4.3.21 Cell membrane 1 0 11 1 5 1997-11-01 Q53EL6 PDCD4_HUMAN PDCD4 Programmed cell death protein 4 469 51.7 10 Nucleus; Cytoplasm 0 0 11 1 5 2006-10-31 Q8TDZ2 MICA1_HUMAN MICAL1 [F-actin]-monooxygenase MICAL1 1067 117.9 6 1.14.13.225, 1.6.3.1 Cytoplasm; Endosome membrane; Midbody 0 0 11 1 5 2002-11-08 Q96HW7 INT4_HUMAN INTS4 Integrator complex subunit 4 963 108.2 11 Nucleus; Cytoplasm 0 0 11 1 5 2006-10-31 Q9BRD0 BUD13_HUMAN BUD13 BUD13 homolog 619 70.5 11 Nucleus 0 1 Achalasia-progeroid syndrome 11 1 5 2007-05-15 Q9BTT4 MED10_HUMAN MED10 Mediator of RNA polymerase II transcription subunit 10 135 15.7 5 Nucleus 0 0 11 1 5 2007-09-11 Q9GZT4 SRR_HUMAN SRR Serine racemase 340 36.6 17 5.1.1.18 0 0 11 1 5 2002-01-31 Q9GZU7 CTDS1_HUMAN CTDSP1 Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 261 29.2 2 3.1.3.16 Nucleus 0 0 11 1 5 2001-12-13 Q9H813 PACC1_HUMAN PACC1 Proton-activated chloride channel 350 40 1 Cell membrane 2 0 11 1 5 2007-03-06 Q9NVC6 MED17_HUMAN MED17 Mediator of RNA polymerase II transcription subunit 17 651 72.9 11 Nucleus 0 1 Microcephaly, postnatal progressive, with seizures and brain atrophy 11 1 5 2003-02-28 Q9NX74 DUS2_HUMAN DUS2 tRNA-dihydrouridine(20) synthase [NAD(P)+]-like 493 55.1 16 1.3.1.91 Cytoplasm; Endoplasmic reticulum 0 0 11 1 5 2005-08-16 Q9UIK4 DAPK2_HUMAN DAPK2 Death-associated protein kinase 2 370 42.9 15 2.7.11.1 Cytoplasm; Cytoplasmic vesicle 0 0 11 1 5 2003-11-28 Q9Y281 COF2_HUMAN CFL2 Cofilin-2 166 18.7 14 Nucleus matrix; Cytoplasm 0 1 Nemaline myopathy 7 11 1 5 2000-05-30 O00213 APBB1_HUMAN APBB1 Amyloid beta precursor protein binding family B member 1 710 77.2 11 Cell membrane; Cytoplasm; Nucleus; Cell projection; Nucleus speckle 0 0 11 1 5 2001-01-11 O00429 DNM1L_HUMAN DNM1L Dynamin-1-like protein 736 81.9 12 3.6.5.5 Cytoplasm; Golgi apparatus; Endomembrane system; Mitochondrion outer membrane; Peroxisome; Membrane; Cytoplasmic vesicle 0 2 Encephalopathy due to defective mitochondrial and peroxisomal fission 1; Optic atrophy 5 11 1 5 2005-05-10 O43513 MED7_HUMAN MED7 Mediator of RNA polymerase II transcription subunit 7 233 27.2 5 Nucleus 0 0 11 1 5 2003-02-28 O75140 DEPD5_HUMAN DEPDC5 GATOR1 complex protein DEPDC5 1603 181.3 22 Lysosome membrane; Cytoplasm 0 2 Epilepsy, familial focal, with variable foci 1; Developmental and epileptic encephalopathy 111 11 1 5 2002-04-03 O75923 DYSF_HUMAN DYSF Dysferlin 2080 237.3 2 Cell membrane; Cytoplasmic vesicle membrane; Late endosome membrane 1 3 Muscular dystrophy, limb-girdle, autosomal recessive 2; Miyoshi muscular dystrophy 1; Distal myopathy with anterior tibial onset 11 1 5 2002-01-23 O95071 UBR5_HUMAN UBR5 E3 ubiquitin-protein ligase UBR5 2799 309.4 8 2.3.2.26 Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with speech delay and behavioral abnormalities 11 1 5 2002-03-05 O95365 ZBT7A_HUMAN ZBTB7A Zinc finger and BTB domain-containing protein 7A 584 61.4 19 Nucleus 0 1 Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 11 1 5 2004-04-13 P05455 LA_HUMAN SSB Lupus La protein 408 46.8 2 Nucleus 0 0 11 1 5 1988-11-01 P07357 CO8A_HUMAN C8A Complement component C8 alpha chain 584 65.2 1 Secreted; Target cell membrane 4 1 Complement component 8 deficiency, 1 11 1 5 1988-04-01 P08047 SP1_HUMAN SP1 Transcription factor Sp1 785 80.7 12 Nucleus; Cytoplasm 0 0 11 1 5 1988-08-01 P0DSE2 TRBR1_HUMAN TRB M1-specific T cell receptor beta chain 310 34.8 Cell membrane 1 0 11 1 5 2019-05-08 P30556 AGTR1_HUMAN AGTR1 Type-1 angiotensin II receptor 359 41.1 3 Cell membrane 7 1 Renal tubular dysgenesis 11 1 5 1993-04-01 P34998 CRHR1_HUMAN CRHR1 Corticotropin-releasing hormone receptor 1 415 47.7 17 Cell membrane 7 0 11 1 5 1994-02-01 P36894 BMR1A_HUMAN BMPR1A Bone morphogenetic protein receptor type-1A 532 60.2 10 2.7.11.30 Cell membrane; Cell surface 1 2 Juvenile polyposis syndrome; Polyposis syndrome, mixed hereditary 2 11 1 5 1994-06-01 P43351 RAD52_HUMAN RAD52 DNA repair protein RAD52 homolog 418 46.2 12 Nucleus 0 0 11 1 5 1995-11-01 P46199 IF2M_HUMAN MTIF2 Translation initiation factor IF-2, mitochondrial 727 81.3 2 Mitochondrion 0 0 11 1 5 1995-11-01 Q02223 TNR17_HUMAN TNFRSF17 Tumor necrosis factor receptor superfamily member 17 184 20.2 16 Cell membrane; Endomembrane system 1 0 11 1 5 1993-07-01 Q13503 MED21_HUMAN MED21 Mediator of RNA polymerase II transcription subunit 21 144 15.6 12 Nucleus 0 0 11 1 5 2000-05-30 Q15006 EMC2_HUMAN EMC2 ER membrane protein complex subunit 2 297 34.8 8 Endoplasmic reticulum membrane 0 0 11 1 5 1998-07-15 Q15477 SKI2_HUMAN SKIC2 Superkiller complex protein 2 1246 137.8 6 3.6.4.13 Nucleus; Cytoplasm 0 1 Trichohepatoenteric syndrome 2 11 1 5 1997-11-01 Q5T2W1 NHRF3_HUMAN PDZK1 Na(+)/H(+) exchange regulatory cofactor NHE-RF3 519 57.1 1 Membrane; Cell membrane 0 0 11 1 5 2005-08-16 Q7LBR1 CHM1B_HUMAN CHMP1B Charged multivesicular body protein 1b 199 22.1 18 Cytoplasm; Endosome; Late endosome membrane 0 0 11 1 5 2005-08-30 Q96DE0 NUD16_HUMAN NUDT16 U8 snoRNA-decapping enzyme 195 21.3 3 3.6.1.62 Nucleus; Cytoplasm 0 0 11 1 5 2005-07-05 Q96HR3 MED30_HUMAN MED30 Mediator of RNA polymerase II transcription subunit 30 178 20.3 8 Nucleus 0 0 11 1 5 2006-06-13 Q9H3M7 TXNIP_HUMAN TXNIP Thioredoxin-interacting protein 391 43.7 1 Cytoplasm; Nucleus 0 0 11 1 5 2006-10-03 Q9NPI1 BRD7_HUMAN BRD7 Bromodomain-containing protein 7 651 74.1 16 Nucleus; Chromosome 0 0 11 1 5 2006-03-21 Q9NPJ6 MED4_HUMAN MED4 Mediator of RNA polymerase II transcription subunit 4 270 29.7 13 Nucleus 0 0 11 1 5 2003-02-28 Q9P086 MED11_HUMAN MED11 Mediator of RNA polymerase II transcription subunit 11 117 13.1 17 Nucleus 0 1 Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities 11 1 5 2007-09-11 Q9UBX2 DUX4_HUMAN DUX4 Double homeobox protein 4 424 44.9 4 Nucleus; Cytoplasm 0 1 Facioscapulohumeral muscular dystrophy 1 11 1 5 2006-10-17 Q9UKE5 TNIK_HUMAN TNIK TRAF2 and NCK-interacting protein kinase 1360 154.9 3 2.7.11.1 Nucleus; Cytoplasm; Recycling endosome 0 1 Intellectual developmental disorder, autosomal recessive 54 11 1 5 2003-02-28 Q9Y3C7 MED31_HUMAN MED31 Mediator of RNA polymerase II transcription subunit 31 131 15.8 17 Nucleus 0 0 11 1 5 2003-10-31 Q9Y5K5 UCHL5_HUMAN UCHL5 Ubiquitin carboxyl-terminal hydrolase isozyme L5 329 37.6 1 3.4.19.12 Cytoplasm; Nucleus 0 0 11 1 5 2001-09-26 Q9Y6N9 USH1C_HUMAN USH1C Harmonin 552 62.2 11 Cytoplasm; Cell projection 0 2 Usher syndrome 1C; Deafness, autosomal recessive, 18A 11 1 5 2002-01-23 Q9NWA0 MED9_HUMAN MED9 Mediator of RNA polymerase II transcription subunit 9 146 16.4 17 Nucleus 0 0 11 1 4 2007-09-11 Q9NY43 BARH2_HUMAN BARHL2 BarH-like 2 homeobox protein 387 42 1 Nucleus 0 0 11 1 3 2003-03-25 O60678 ANM3_HUMAN PRMT3 Protein arginine N-methyltransferase 3 531 59.9 11 2.1.1.319 Cytoplasm; Nucleus 0 0 10 1 5 2001-01-11 O75964 ATP5L_HUMAN ATP5MG ATP synthase F(0) complex subunit g, mitochondrial 103 11.4 11 Mitochondrion; Mitochondrion inner membrane 0 0 10 1 5 1998-12-15 O94768 ST17B_HUMAN STK17B Serine/threonine-protein kinase 17B 372 42.3 2 2.7.11.1 Nucleus; Cell membrane; Endoplasmic reticulum-Golgi intermediate compartment 0 0 10 1 5 2001-06-20 P00846 ATP6_HUMAN MT-ATP6 ATP synthase F(0) complex subunit a 226 24.8 MT Mitochondrion inner membrane 6 8 Neuropathy, ataxia, and retinitis pigmentosa; Leber hereditary optic neuropathy; Leigh syndrome; Mitochondrial infantile bilateral striatal necrosis; Mitochondrial complex V deficiency, mitochondrial 1; Myopathy, lactic acidosis, and sideroblastic anemia 3; Ataxia and polyneuropathy, adult-onset; Cardiomyopathy, infantile hypertrophic 10 1 5 1986-07-21 P02776 PLF4_HUMAN PF4 Platelet factor 4 101 10.8 4 Secreted 0 0 10 1 5 1986-07-21 P08887 IL6RA_HUMAN IL6R Interleukin-6 receptor subunit alpha 468 51.5 1 Cell membrane 1 1 Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections 10 1 5 1988-11-01 P11766 ADHX_HUMAN ADH5 Alcohol dehydrogenase class-3 374 39.7 4 1.1.1.1 Cytoplasm 0 1 AMED syndrome, digenic 10 1 5 1989-10-01 P19367 HXK1_HUMAN HK1 Hexokinase-1 917 102.5 10 2.7.1.1 Mitochondrion outer membrane; Cytoplasm 0 4 Anemia, congenital, non-spherocytic hemolytic, 5; Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79; Neurodevelopmental disorder with visual defects and brain anomalies 10 1 5 1990-11-01 P20036 DPA1_HUMAN HLA-DPA1 HLA class II histocompatibility antigen, DP alpha 1 chain 260 29.4 6 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endosome membrane; Lysosome membrane 1 0 10 1 5 1986-07-21 P26038 MOES_HUMAN MSN Moesin 577 67.8 X Cell membrane; Cytoplasm; Apical cell membrane; Cell projection 0 1 Immunodeficiency 50 10 1 5 1992-05-01 P29017 CD1C_HUMAN CD1C T-cell surface glycoprotein CD1c 333 37.7 1 Cell membrane; Endosome membrane; Lysosome 1 0 10 1 5 1992-12-01 P30049 ATPD_HUMAN ATP5F1D ATP synthase F(1) complex subunit delta, mitochondrial 168 17.5 19 Mitochondrion; Mitochondrion inner membrane 0 1 Mitochondrial complex V deficiency, nuclear type 5 10 1 5 1993-04-01 P30533 AMRP_HUMAN LRPAP1 Alpha-2-macroglobulin receptor-associated protein 357 41.5 4 Rough endoplasmic reticulum lumen; Endoplasmic reticulum-Golgi intermediate compartment lumen; Golgi apparatus; Golgi apparatus lumen; Endosome lumen; Cell surface 0 1 Myopia 23, autosomal recessive 10 1 5 1993-04-01 P35221 CTNA1_HUMAN CTNNA1 Catenin alpha-1 906 100.1 5 Cytoplasm; Cell junction; Cell membrane; Nucleus 0 1 Macular dystrophy, patterned, 2 10 1 5 1994-02-01 P41159 LEP_HUMAN LEP Leptin 167 18.6 7 Secreted 0 1 Leptin deficiency 10 1 5 1995-02-01 P42224 STAT1_HUMAN STAT1 Signal transducer and activator of transcription 1-alpha/beta 750 87.3 2 Cytoplasm; Nucleus 0 3 Immunodeficiency 31B; Immunodeficiency 31A; Immunodeficiency 31C 10 1 5 1995-11-01 P43627 KI2L2_HUMAN KIR2DL2 Killer cell immunoglobulin-like receptor 2DL2 348 38.5 Cell membrane 1 0 10 1 5 1995-11-01 P46020 KPB1_HUMAN PHKA1 Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform 1223 137.3 X Cell membrane 0 1 Glycogen storage disease 9D 10 1 5 1995-11-01 P48547 KCNC1_HUMAN KCNC1 Voltage-gated potassium channel KCNC1 511 57.9 11 Cell membrane; Cell projection; Presynaptic cell membrane 6 1 Epilepsy, progressive myoclonic 7 10 1 5 1996-02-01 P52799 EFNB2_HUMAN EFNB2 Ephrin-B2 333 36.9 13 Cell membrane; Cell junction 1 0 10 1 5 1996-10-01 P56381 ATP5E_HUMAN ATP5F1E ATP synthase F(1) complex subunit epsilon, mitochondrial 51 5.8 20 Mitochondrion; Mitochondrion inner membrane 0 1 Mitochondrial complex V deficiency, nuclear type 3 10 1 5 1998-07-15 P56385 ATP5I_HUMAN ATP5ME ATP synthase F(0) complex subunit e, mitochondrial 69 7.9 4 Mitochondrion; Mitochondrion inner membrane 0 0 10 1 5 1998-07-15 P67870 CSK2B_HUMAN CSNK2B Casein kinase II subunit beta 215 24.9 6 Nucleus 0 1 Poirier-Bienvenu neurodevelopmental syndrome 10 1 5 2004-10-11 P80098 CCL7_HUMAN CCL7 C-C motif chemokine 7 99 11.2 17 Secreted 0 0 10 1 5 1992-12-01 Q13263 TIF1B_HUMAN TRIM28 Transcription intermediary factor 1-beta 835 88.6 19 Nucleus 0 1 Wilms tumor 7 10 1 5 1998-07-15 Q13470 TNK1_HUMAN TNK1 Non-receptor tyrosine-protein kinase TNK1 666 72.5 17 2.7.10.2 Cytoplasm; Membrane 0 0 10 1 5 2005-02-15 Q15582 BGH3_HUMAN TGFBI Transforming growth factor-beta-induced protein ig-h3 683 74.7 5 Secreted 0 7 Corneal dystrophy, epithelial basement membrane; Corneal dystrophy, Groenouw type 1; Corneal dystrophy, lattice type 1; Corneal dystrophy, Thiel-Behnke type; Corneal dystrophy, Reis-Bucklers type; Corneal dystrophy, lattice type 3A; Corneal dystrophy, Avellino type 10 1 5 1997-11-01 Q16281 CNGA3_HUMAN CNGA3 Cyclic nucleotide-gated channel alpha-3 694 78.8 2 Photoreceptor outer segment membrane; Cell membrane 7 1 Achromatopsia 2 10 1 5 1997-11-01 Q4FZB7 KMT5B_HUMAN KMT5B Histone-lysine N-methyltransferase KMT5B 885 99.2 11 Nucleus; Chromosome 0 1 Intellectual developmental disorder, autosomal dominant 51 10 1 5 2007-04-03 Q5SQI0 ATAT_HUMAN ATAT1 Alpha-tubulin N-acetyltransferase 1 421 46.8 6 2.3.1.108 Cytoplasm; Membrane; Cell junction; Cell projection 0 0 10 1 5 2008-09-02 Q5VTY9 HHAT_HUMAN HHAT Protein-cysteine N-palmitoyltransferase HHAT 493 57.3 1 2.3.1.- Endoplasmic reticulum membrane; Golgi apparatus membrane 10 1 Nivelon-Nivelon-Mabille syndrome 10 1 5 2005-12-20 Q71SY5 MED25_HUMAN MED25 Mediator of RNA polymerase II transcription subunit 25 747 78.2 19 Nucleus 0 2 Charcot-Marie-Tooth disease, axonal, type 2B2; Basel-Vanagaite-Smirin-Yosef syndrome 10 1 5 2007-10-02 Q86VP1 TAXB1_HUMAN TAX1BP1 Tax1-binding protein 1 789 90.9 7 Cytoplasm; Mitochondrion; Preautophagosomal structure; Cytoplasmic vesicle 0 0 10 1 5 2006-05-16 Q8IUQ4 SIAH1_HUMAN SIAH1 E3 ubiquitin-protein ligase SIAH1 282 31.1 16 2.3.2.27 Cytoplasm; Nucleus 0 1 Buratti-Harel syndrome 10 1 5 2004-04-26 Q99705 MCHR1_HUMAN MCHR1 Melanin-concentrating hormone receptor 1 353 38.9 22 Cell membrane 7 0 10 1 5 1997-11-01 Q9BVS4 RIOK2_HUMAN RIOK2 Serine/threonine-protein kinase RIO2 552 63.3 5 2.7.11.1 Cytoplasm 0 0 10 1 5 2004-12-07 Q9NP91 S6A20_HUMAN SLC6A20 Sodium- and chloride-dependent transporter XTRP3 592 65.9 3 Apical cell membrane 12 2 Hyperglycinuria; Iminoglycinuria 10 1 5 2004-03-29 Q9P0I2 EMC3_HUMAN EMC3 ER membrane protein complex subunit 3 261 30 3 Endoplasmic reticulum membrane 3 0 10 1 5 2005-07-19 Q9UPN6 SCAF8_HUMAN SCAF8 SR-related and CTD-associated factor 8 1271 140.5 6 Nucleus; Nucleus matrix 0 0 10 1 5 2003-05-09 Q9Y388 RBMX2_HUMAN RBMX2 RNA-binding motif protein, X-linked 2 322 37.3 X Nucleus 0 0 10 1 5 2001-02-21 Q9Y3B8 ORN_HUMAN REXO2 Oligoribonuclease, mitochondrial 237 26.8 11 3.1.15.- Mitochondrion intermembrane space; Mitochondrion matrix; Mitochondrion; Cytoplasm; Nucleus 0 0 10 1 5 2000-05-30 Q9Y6M4 KC1G3_HUMAN CSNK1G3 Casein kinase I isoform gamma-3 447 51.4 5 2.7.11.1 Cytoplasm 0 0 10 1 5 2000-05-30 A0JLT2 MED19_HUMAN MED19 Mediator of RNA polymerase II transcription subunit 19 244 26.3 11 Nucleus 0 0 10 1 5 2007-10-02 O00187 MASP2_HUMAN MASP2 Mannan-binding lectin serine protease 2 686 75.7 1 3.4.21.104 Secreted 0 1 MASP2 deficiency 10 1 5 2000-05-30 O00764 PDXK_HUMAN PDXK Pyridoxal kinase 312 35.1 21 2.7.1.35 Cytoplasm 0 1 Neuropathy, hereditary motor and sensory, 6C, with optic atrophy 10 1 5 1997-11-01 O75340 PDCD6_HUMAN PDCD6 Programmed cell death protein 6 191 21.9 5 Endoplasmic reticulum membrane; Cytoplasmic vesicle; Cytoplasm; Nucleus; Endosome 0 0 10 1 5 2001-01-11 P05023 AT1A1_HUMAN ATP1A1 Sodium/potassium-transporting ATPase subunit alpha-1 1023 112.9 1 7.2.2.13 Cell membrane; Basolateral cell membrane; Cell projection; Melanosome 10 2 Charcot-Marie-Tooth disease, axonal, type 2DD; Hypomagnesemia, seizures, and impaired intellectual development 2 10 1 5 1987-08-13 P05496 AT5G1_HUMAN ATP5MC1 ATP synthase F(0) complex subunit C1, mitochondrial 136 14.3 17 Mitochondrion membrane 2 0 10 1 5 1988-11-01 P06312 KV401_HUMAN IGKV4-1 Immunoglobulin kappa variable 4-1 121 13.4 2 Secreted; Cell membrane 0 0 10 1 5 1988-01-01 P07911 UROM_HUMAN UMOD Uromodulin 640 69.8 16 Apical cell membrane; Basolateral cell membrane; Cell projection 0 1 Tubulointerstitial kidney disease, autosomal dominant 1 10 1 5 1988-08-01 P11836 CD20_HUMAN MS4A1 B-lymphocyte antigen CD20 297 33.1 11 Cell membrane 4 1 Immunodeficiency, common variable, 5 10 1 5 1989-10-01 P15289 ARSA_HUMAN ARSA Arylsulfatase A 507 53.6 22 3.1.6.8 Endoplasmic reticulum; Lysosome 0 2 Metachromatic leukodystrophy; Multiple sulfatase deficiency 10 1 5 1990-04-01 P21673 SAT1_HUMAN SAT1 Diamine acetyltransferase 1 171 20 X 2.3.1.57 Cytoplasm 0 0 10 1 5 1991-05-01 P22466 GALA_HUMAN GAL Galanin peptides 123 13.3 11 Secreted 0 1 Epilepsy, familial temporal lobe, 8 10 1 5 1991-08-01 P23297 S10A1_HUMAN S100A1 Protein S100-A1 94 10.5 1 Cytoplasm; Sarcoplasmic reticulum; Mitochondrion 0 0 10 1 5 1991-11-01 P23526 SAHH_HUMAN AHCY Adenosylhomocysteinase 432 47.7 20 3.13.2.1 Cytoplasm; Melanosome; Nucleus; Endoplasmic reticulum 0 1 Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency 10 1 5 1991-11-01 P24394 IL4RA_HUMAN IL4R Interleukin-4 receptor subunit alpha 825 89.7 16 Cell membrane 1 0 10 1 5 1992-03-01 P31483 TIA1_HUMAN TIA1 Cytotoxic granule associated RNA binding protein TIA1 386 43 2 Nucleus; Cytoplasm 0 2 Welander distal myopathy; Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia 10 1 5 1993-07-01 P52756 RBM5_HUMAN RBM5 RNA-binding protein 5 815 92.2 3 Nucleus 0 0 10 1 5 1996-10-01 P56378 ATP68_HUMAN ATP5MJ ATP synthase F(0) complex subunit j, mitochondrial 58 6.7 14 Mitochondrion membrane 1 0 10 1 5 1998-07-15 Q00535 CDK5_HUMAN CDK5 Cyclin-dependent kinase 5 292 33.3 7 2.7.11.1 Cytoplasm; Nucleus; Cell membrane; Perikaryon; Cell projection; Postsynaptic density; Synapse 0 1 Lissencephaly 7, with cerebellar hypoplasia 10 1 5 1993-04-01 Q00610 CLH1_HUMAN CLTC Clathrin heavy chain 1 1675 191.6 17 Cytoplasmic vesicle membrane; Membrane; Melanosome; Cytoplasm 0 1 Intellectual developmental disorder, autosomal dominant 56 10 1 5 1992-12-01 Q05066 SRY_HUMAN SRY Sex-determining region Y protein 204 23.9 Y Nucleus speckle; Cytoplasm; Nucleus 0 2 46,XY sex reversal 1; 46,XX sex reversal 1 10 1 5 1994-06-01 Q13009 TIAM1_HUMAN TIAM1 Rho guanine nucleotide exchange factor TIAM1 1591 177.5 21 Cell junction; Cell membrane 0 1 Neurodevelopmental disorder with language delay and seizures 10 1 5 1997-11-01 Q13085 ACACA_HUMAN ACACA Acetyl-CoA carboxylase 1 2346 265.6 17 6.4.1.2 Cytoplasm 0 1 Acetyl-CoA carboxylase-alpha deficiency 10 1 5 1997-11-01 Q13137 CACO2_HUMAN CALCOCO2 Calcium-binding and coiled-coil domain-containing protein 2 446 52.3 17 Cytoplasm; Cytoplasmic vesicle 0 0 10 1 5 2007-12-04 Q13422 IKZF1_HUMAN IKZF1 DNA-binding protein Ikaros 519 57.5 7 Nucleus 0 1 Immunodeficiency, common variable, 13 10 1 5 1998-12-15 Q14137 BOP1_HUMAN BOP1 Ribosome biogenesis protein BOP1 746 83.6 8 Nucleus 0 0 10 1 5 1997-11-01 Q15413 RYR3_HUMAN RYR3 Ryanodine receptor 3 4870 552 15 Sarcoplasmic reticulum membrane 7 1 Congenital myopathy 20 10 1 5 2001-09-26 Q15796 SMAD2_HUMAN SMAD2 SMAD family member 2 467 52.3 18 Cytoplasm; Nucleus 0 2 Congenital heart defects, multiple types, 8, with or without heterotaxy; Loeys-Dietz syndrome 6 10 1 5 2001-04-27 Q15797 SMAD1_HUMAN SMAD1 SMAD family member 1 465 52.3 4 Cytoplasm; Nucleus 0 0 10 1 5 2001-04-27 Q16850 CP51A_HUMAN CYP51A1 Lanosterol 14-alpha demethylase 509 57.3 7 1.14.14.154 Endoplasmic reticulum membrane; Microsome membrane 1 0 10 1 5 1997-11-01 Q6P1M3 L2GL2_HUMAN LLGL2 LLGL scribble cell polarity complex component 2 1020 113.4 17 Cytoplasm 0 0 10 1 5 2006-04-18 Q8NDL9 CBPC5_HUMAN AGBL5 Cytosolic carboxypeptidase-like protein 5 886 97.5 2 3.4.17.-, 3.4.17.24 Cytoplasm; Nucleus; Midbody 0 1 Retinitis pigmentosa 75 10 1 5 2007-10-02 Q8NI35 INADL_HUMAN PATJ InaD-like protein 1801 196.4 1 Cell junction; Apical cell membrane; Cytoplasm 0 0 10 1 5 2005-06-21 Q8WVB6 CTF18_HUMAN CHTF18 Chromosome transmission fidelity protein 18 homolog 975 107.4 16 Nucleus 0 0 10 1 5 2008-06-10 Q8WVK2 SNR27_HUMAN SNRNP27 U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein 155 18.9 2 Nucleus 0 0 10 1 5 2006-02-21 Q92466 DDB2_HUMAN DDB2 DNA damage-binding protein 2 427 47.9 11 Nucleus; Chromosome 0 1 Xeroderma pigmentosum complementation group E 10 1 5 2001-01-11 Q96HS1 PGAM5_HUMAN PGAM5 Serine/threonine-protein phosphatase PGAM5, mitochondrial 289 32 12 3.1.3.16 Mitochondrion outer membrane; Mitochondrion inner membrane 1 0 10 1 5 2007-05-29 Q96IY4 CBPB2_HUMAN CPB2 Carboxypeptidase B2 423 48.4 13 3.4.17.20 Secreted 0 0 10 1 5 2005-04-26 Q96L92 SNX27_HUMAN SNX27 Sorting nexin-27 541 61.3 1 Early endosome membrane; Cytoplasm 0 0 10 1 5 2002-03-27 Q9BQ52 RNZ2_HUMAN ELAC2 Zinc phosphodiesterase ELAC protein 2 826 92.2 17 3.1.26.11 Mitochondrion; Mitochondrion matrix; Nucleus 0 2 Prostate cancer, hereditary, 2; Combined oxidative phosphorylation deficiency 17 10 1 5 2004-01-16 Q9BRT9 SLD5_HUMAN GINS4 DNA replication complex GINS protein SLD5 223 26 8 Nucleus; Chromosome; Cytoplasm 0 0 10 1 5 2008-04-08 Q9H6F5 CCD86_HUMAN CCDC86 Coiled-coil domain-containing protein 86 360 40.2 11 Nucleus; Chromosome 0 0 10 1 5 2007-05-01 Q9H6P5 TASP1_HUMAN TASP1 Threonine aspartase 1 420 44.5 20 3.4.25.- 0 1 Suleiman-El-Hattab syndrome 10 1 5 2003-02-28 Q9NSP4 CENPM_HUMAN CENPM Centromere protein M 180 19.7 22 Nucleus; Cytoplasm; Chromosome 0 0 10 1 5 2004-05-10 Q9NVM9 INT13_HUMAN INTS13 Integrator complex subunit 13 706 80.2 12 Nucleus; Cytoplasm 0 0 10 1 5 2005-07-19 Q9NX70 MED29_HUMAN MED29 Mediator of RNA polymerase II transcription subunit 29 200 21.1 19 Nucleus 0 0 10 1 5 2007-05-29 Q9NY33 DPP3_HUMAN DPP3 Dipeptidyl peptidase 3 737 82.6 11 3.4.14.4 Cytoplasm 0 0 10 1 5 2001-04-27 Q9UQC2 GAB2_HUMAN GAB2 GRB2-associated-binding protein 2 676 74.5 11 Cytoplasm; Cell membrane; Membrane raft 0 0 10 1 5 2004-04-13 O60658 PDE8A_HUMAN PDE8A High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A 829 93.3 15 3.1.4.53 0 0 10 1 5 1999-07-15 O60895 RAMP2_HUMAN RAMP2 Receptor activity-modifying protein 2 175 19.6 17 Cell membrane 1 0 10 1 5 2000-12-01 O75880 SCO1_HUMAN SCO1 Cytochrome c oxidase assembly factor SCO1 301 33.8 17 Mitochondrion inner membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 4 10 1 5 2000-05-30 P01241 SOMA_HUMAN GH1 Somatotropin 217 24.8 17 Secreted 0 4 Growth hormone deficiency, isolated, 1A; Growth hormone deficiency, isolated, 1B; Kowarski syndrome; Growth hormone deficiency, isolated, 2 10 1 5 1986-07-21 P05412 JUN_HUMAN JUN Transcription factor Jun 331 35.7 1 Nucleus 0 0 10 1 5 1988-11-01 P12081 HARS1_HUMAN HARS1 Histidine--tRNA ligase, cytoplasmic 509 57.4 5 6.1.1.21 Cytoplasm 0 2 Usher syndrome 3B; Charcot-Marie-Tooth disease, axonal, type 2W 10 1 5 1989-10-01 P13674 P4HA1_HUMAN P4HA1 Prolyl 4-hydroxylase subunit alpha-1 534 61 10 1.14.11.2 Endoplasmic reticulum lumen 0 0 10 1 5 1990-01-01 P27797 CALR_HUMAN CALR Calreticulin 417 48.1 19 Endoplasmic reticulum lumen; Cytoplasm; Secreted; Cell surface; Sarcoplasmic reticulum lumen; Cytoplasmic vesicle; Cytolytic granule 0 0 10 1 5 1992-08-01 P28715 ERCC5_HUMAN ERCC5 DNA excision repair protein ERCC-5 1186 133.1 13 3.1.-.- Nucleus; Chromosome 0 2 Xeroderma pigmentosum complementation group G; Cerebro-oculo-facio-skeletal syndrome 3 10 1 5 1993-04-01 P28749 RBL1_HUMAN RBL1 Retinoblastoma-like protein 1 1068 120.8 20 Nucleus 0 0 10 1 5 1992-12-01 P32927 IL3RB_HUMAN CSF2RB Cytokine receptor common subunit beta 897 97.3 22 Membrane 1 1 Pulmonary surfactant metabolism dysfunction 5 10 1 5 1993-10-01 P38405 GNAL_HUMAN GNAL Guanine nucleotide-binding protein G(olf) subunit alpha 381 44.3 18 3.6.5.- Cell membrane 0 1 Dystonia 25 10 1 5 1994-10-01 P46379 BAG6_HUMAN BAG6 Large proline-rich protein BAG6 1132 119.4 6 Cytoplasm; Nucleus; Secreted 0 0 10 1 5 1995-11-01 P49959 MRE11_HUMAN MRE11 Double-strand break repair protein MRE11 708 80.6 11 3.1.-.- Nucleus; Chromosome 0 1 Ataxia-telangiectasia-like disorder 1 10 1 5 1996-10-01 P52907 CAZA1_HUMAN CAPZA1 F-actin-capping protein subunit alpha-1 286 32.9 1 Cytoplasm 0 0 10 1 5 1996-10-01 P55211 CASP9_HUMAN CASP9 Caspase-9 416 46.3 1 3.4.22.62 0 0 10 1 5 1996-10-01 P63261 ACTG_HUMAN ACTG1 Actin, cytoplasmic 2 375 41.8 17 3.6.4.- Cytoplasm 0 2 Deafness, autosomal dominant, 20; Baraitser-Winter syndrome 2 10 1 5 1986-07-21 Q13952 NFYC_HUMAN NFYC Nuclear transcription factor Y subunit gamma 458 50.3 1 Nucleus 0 0 10 1 5 2002-01-23 Q14108 SCRB2_HUMAN SCARB2 Lysosome membrane protein 2 478 54.3 4 Lysosome membrane 2 1 Epilepsy, progressive myoclonic 4, with or without renal failure 10 1 5 1997-11-01 Q14764 MVP_HUMAN MVP Major vault protein 893 99.3 16 Cytoplasm; Nucleus 0 0 10 1 5 1997-11-01 Q15633 TRBP2_HUMAN TARBP2 RISC-loading complex subunit TARBP2 366 39 12 Cytoplasm; Nucleus 0 0 10 1 5 1998-07-15 Q15637 SF01_HUMAN SF1 Splicing factor 1 639 68.3 11 Nucleus 0 0 10 1 5 2003-11-07 Q27J81 INF2_HUMAN INF2 Inverted formin-2 1249 135.6 14 Cytoplasm 0 2 Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E 10 1 5 2008-01-15 Q6P9B9 INT5_HUMAN INTS5 Integrator complex subunit 5 1019 108 11 Nucleus; Cytoplasm; Nucleus membrane 3 0 10 1 5 2006-10-31 Q75QN2 INT8_HUMAN INTS8 Integrator complex subunit 8 995 113.1 8 Nucleus; Chromosome 0 1 Neurodevelopmental disorder with cerebellar hypoplasia and spasticity 10 1 5 2006-10-31 Q8IY47 KBTB2_HUMAN KBTBD2 Kelch repeat and BTB domain-containing protein 2 623 71.3 7 0 0 10 1 5 2003-07-25 Q8N4V1 EMC5_HUMAN MMGT1 ER membrane protein complex subunit 5 131 14.7 X Endoplasmic reticulum membrane; Golgi apparatus membrane; Early endosome membrane 2 0 10 1 5 2007-05-01 Q8NFU1 BEST2_HUMAN BEST2 Bestrophin-2a 509 57.1 19 Cell membrane; Basolateral cell membrane 4 0 10 1 5 2003-11-21 Q8WXE1 ATRIP_HUMAN ATRIP ATR-interacting protein 791 85.8 3 Nucleus 0 0 10 1 5 2004-06-07 Q92847 GHSR_HUMAN GHSR Growth hormone secretagogue receptor type 1 366 41.3 3 Cell membrane 7 1 Growth hormone deficiency, isolated partial 10 1 5 1997-11-01 Q99848 EBP2_HUMAN EBNA1BP2 Probable rRNA-processing protein EBP2 306 34.9 1 Nucleus 0 0 10 1 5 2002-06-06 Q9BRS2 RIOK1_HUMAN RIOK1 Serine/threonine-protein kinase RIO1 568 65.6 6 2.7.11.1, 3.6.1.- Cytoplasm 0 0 10 1 5 2004-12-07 Q9BRX5 PSF3_HUMAN GINS3 DNA replication complex GINS protein PSF3 216 24.5 16 Nucleus; Chromosome 0 1 Meier-Gorlin syndrome 9 10 1 5 2008-04-08 Q9BX68 HINT2_HUMAN HINT2 Adenosine 5'-monophosphoramidase HINT2 163 17.2 9 3.9.1.- Mitochondrion 0 0 10 1 5 2004-08-31 Q9BZL1 UBL5_HUMAN UBL5 Ubiquitin-like protein 5 73 8.5 19 Cytoplasm; Nucleus 0 0 10 1 5 2004-09-13 Q9H9A7 RMI1_HUMAN RMI1 RecQ-mediated genome instability protein 1 625 70.1 9 Nucleus 0 0 10 1 5 2006-03-21 Q9P0K1 ADA22_HUMAN ADAM22 Disintegrin and metalloproteinase domain-containing protein 22 906 100.4 7 Cell membrane; Cell projection 1 1 Developmental and epileptic encephalopathy 61 10 1 5 2001-06-20 Q9UKF6 CPSF3_HUMAN CPSF3 Cleavage and polyadenylation specificity factor subunit 3 684 77.5 2 3.1.27.- Nucleus 0 1 Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures 10 1 5 2001-10-18 A4D1P6 WDR91_HUMAN WDR91 WD repeat-containing protein 91 747 83.3 7 Early endosome membrane; Late endosome membrane 0 0 10 1 5 2007-07-24 O00418 EF2K_HUMAN EEF2K Eukaryotic elongation factor 2 kinase 725 82.1 16 2.7.11.20 0 0 10 1 5 1998-07-15 O75147 OBSL1_HUMAN OBSL1 Obscurin-like protein 1 1896 206.9 2 Cytoplasm; Golgi apparatus 0 1 3M syndrome 2 10 1 5 2006-08-22 P01589 IL2RA_HUMAN IL2RA Interleukin-2 receptor subunit alpha 272 30.8 10 Membrane 1 2 Type 1 diabetes mellitus 10; Immunodeficiency 41 with lymphoproliferation and autoimmunity 10 1 5 1986-07-21 P01920 DQB1_HUMAN HLA-DQB1 HLA class II histocompatibility antigen, DQ beta 1 chain 261 30 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endosome membrane; Lysosome membrane 1 0 10 1 5 1986-07-21 P03928 ATP8_HUMAN MT-ATP8 ATP synthase F(0) complex subunit 8 68 8 MT Mitochondrion membrane 1 2 Mitochondrial complex V deficiency, mitochondrial 2; Cardiomyopathy, infantile hypertrophic 10 1 5 1986-07-21 P08727 K1C19_HUMAN KRT19 Keratin, type I cytoskeletal 19 400 44.1 17 0 0 10 1 5 1988-08-01 P10827 THA_HUMAN THRA Thyroid hormone receptor alpha 490 54.8 17 Nucleus 0 1 Hypothyroidism, congenital, non-goitrous, 6 10 1 5 1989-07-01 P11498 PYC_HUMAN PC Pyruvate carboxylase, mitochondrial 1178 129.6 11 6.4.1.1 Mitochondrion matrix 0 1 Pyruvate carboxylase deficiency 10 1 5 1989-10-01 P17535 JUND_HUMAN JUND Transcription factor JunD 347 35.2 19 Nucleus 0 0 10 1 5 1990-08-01 P17693 HLAG_HUMAN HLA-G HLA class I histocompatibility antigen, alpha chain G 338 38.2 6 Cell projection 1 0 10 1 5 1990-08-01 P22748 CAH4_HUMAN CA4 Carbonic anhydrase 4 312 35 17 4.2.1.1 Cell membrane 0 1 Retinitis pigmentosa 17 10 1 5 1991-08-01 P29972 AQP1_HUMAN AQP1 Aquaporin-1 269 28.5 7 Cell membrane 6 0 10 1 5 1993-04-01 P34972 CNR2_HUMAN CNR2 Cannabinoid receptor 2 360 39.7 1 Cell membrane; Cell projection; Perikaryon 7 0 10 1 5 1994-02-01 P35408 PE2R4_HUMAN PTGER4 Prostaglandin E2 receptor EP4 subtype 488 53.1 5 Cell membrane 7 0 10 1 5 1994-06-01 P35813 PPM1A_HUMAN PPM1A Protein phosphatase 1A 382 42.4 14 3.1.3.16 Nucleus; Cytoplasm; Membrane 0 0 10 1 5 1994-06-01 P46108 CRK_HUMAN CRK Adapter molecule crk 304 33.8 17 Cytoplasm; Cell membrane 0 0 10 1 5 1995-11-01 P47895 AL1A3_HUMAN ALDH1A3 Retinaldehyde dehydrogenase 3 512 56.1 15 1.2.1.36 Cytoplasm 0 1 Microphthalmia, isolated, 8 10 1 5 1996-02-01 P51149 RAB7A_HUMAN RAB7A Ras-related protein Rab-7a 207 23.5 3 3.6.5.2 Cytoplasmic vesicle; Late endosome membrane; Lysosome membrane; Melanosome membrane; Lipid droplet; Endosome membrane; Mitochondrion membrane 0 1 Charcot-Marie-Tooth disease, axonal, type 2B 10 1 5 1996-10-01 P56134 ATPK_HUMAN ATP5MF ATP synthase F(0) complex subunit f, mitochondrial 94 10.9 7 Mitochondrion; Mitochondrion inner membrane 1 0 10 1 5 1997-11-01 P61278 SMS_HUMAN SST Somatostatin 116 12.7 3 Secreted 0 0 10 1 5 1986-07-21 P78423 X3CL1_HUMAN CX3CL1 Fractalkine 397 42.2 16 Cell membrane 1 0 10 1 5 1999-07-15 Q02078 MEF2A_HUMAN MEF2A Myocyte-specific enhancer factor 2A 507 54.8 15 Nucleus 0 1 Coronary artery disease, autosomal dominant, 1 10 1 5 1995-11-01 Q12980 NPRL3_HUMAN NPRL3 GATOR1 complex protein NPRL3 569 63.6 16 Lysosome membrane 0 1 Epilepsy, familial focal, with variable foci 3 10 1 5 2001-09-26 Q13114 TRAF3_HUMAN TRAF3 TNF receptor-associated factor 3 568 64.5 14 2.3.2.27 Cytoplasm; Endosome; Mitochondrion 0 2 Immunodeficiency 132A; Immunodeficiency 132B 10 1 5 2000-05-30 Q14565 DMC1_HUMAN DMC1 Meiotic recombination protein DMC1 homolog 340 37.7 22 3.6.4.- Chromosome; Nucleus 0 0 10 1 5 1997-11-01 Q14691 PSF1_HUMAN GINS1 DNA replication complex GINS protein PSF1 196 23 20 Nucleus; Chromosome 0 1 Immunodeficiency 55 10 1 5 2000-05-30 Q16816 PHKG1_HUMAN PHKG1 Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform 387 45 7 2.7.11.19 0 0 10 1 5 1997-11-01 Q29983 MICA_HUMAN MICA MHC class I polypeptide-related sequence A 383 42.9 Cell membrane; Cytoplasm 1 2 Psoriasis 1; Psoriatic arthritis 10 1 5 2008-05-20 Q5T601 AGRF1_HUMAN ADGRF1 Adhesion G protein-coupled receptor F1 910 101.4 6 Cell membrane 7 0 10 1 5 2005-03-01 Q5UCC4 EMC10_HUMAN EMC10 ER membrane protein complex subunit 10 262 27.3 19 Endoplasmic reticulum membrane 1 1 Neurodevelopmental disorder with dysmorphic facies and variable seizures 10 1 5 2008-01-15 Q6ZRS2 SRCAP_HUMAN SRCAP Chromatin remodeling protein SRCAP 3230 343.6 16 3.6.4.- Nucleus 0 2 Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 10 1 5 2007-11-13 Q8NBJ5 GT251_HUMAN COLGALT1 Procollagen galactosyltransferase 1 622 71.6 19 2.4.1.50 Endoplasmic reticulum lumen 0 1 Brain small vessel disease 3 10 1 5 2007-12-04 Q8TAD8 SNIP1_HUMAN SNIP1 Smad nuclear-interacting protein 1 396 45.8 1 Nucleus 0 1 Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures 10 1 5 2004-06-07 Q8WZA1 PMGT1_HUMAN POMGNT1 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 660 75.3 1 2.4.1.- Golgi apparatus membrane 1 4 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3; Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B3; Muscular dystrophy-dystroglycanopathy limb-girdle C3; Retinitis pigmentosa 76 10 1 5 2005-08-16 Q96LR5 UB2E2_HUMAN UBE2E2 Ubiquitin-conjugating enzyme E2 E2 201 22.3 3 2.3.2.23 0 0 10 1 5 2004-05-24 Q96Q15 SMG1_HUMAN SMG1 Serine/threonine-protein kinase SMG1 3661 410.5 16 2.7.11.1 Nucleus; Cytoplasm 0 0 10 1 5 2006-04-04 Q9BUL8 PDC10_HUMAN PDCD10 Programmed cell death protein 10 212 24.7 3 Cytoplasm; Golgi apparatus membrane; Cell membrane 0 1 Cerebral cavernous malformations 3 10 1 5 2005-10-11 Q9BV81 EMC6_HUMAN EMC6 ER membrane protein complex subunit 6 110 12 17 Endoplasmic reticulum membrane 3 0 10 1 5 2006-10-31 Q9NZI2 KCIP1_HUMAN KCNIP1 A-type potassium channel modulatory protein KCNIP1 227 26.8 5 Cell membrane; Cytoplasm; Cell projection 0 0 10 1 5 2005-08-16 Q9Y248 PSF2_HUMAN GINS2 DNA replication complex GINS protein PSF2 185 21.4 16 Nucleus; Chromosome 0 0 10 1 5 2003-10-24 Q9Y2X0 MED16_HUMAN MED16 Mediator of RNA polymerase II transcription subunit 16 877 96.8 19 Nucleus 0 1 Guillouet-Gordon syndrome 10 1 5 2005-04-12 Q9Y376 CAB39_HUMAN CAB39 Calcium-binding protein 39 341 39.9 2 Cytoplasm 0 0 10 1 5 2001-08-14 O43189 PHF1_HUMAN PHF1 PHD finger protein 1 567 62.1 6 Nucleus; Cytoplasm 0 0 10 1 5 2000-12-01 O75448 MED24_HUMAN MED24 Mediator of RNA polymerase II transcription subunit 24 989 110.3 17 Nucleus 0 0 10 1 5 2002-06-24 O75694 NU155_HUMAN NUP155 Nuclear pore complex protein Nup155 1391 155.2 5 Nucleus; Nucleus membrane 0 1 Atrial fibrillation, familial, 15 10 1 5 1999-07-15 O75787 RENR_HUMAN ATP6AP2 Renin receptor 350 39 X Endoplasmic reticulum membrane; Lysosome membrane; Cytoplasmic vesicle; Cell projection; Endosome membrane 1 3 Intellectual developmental disorder, X-linked, syndromic, Hedera type; Parkinsonism with spasticity, X-linked; Congenital disorder of glycosylation 2R 10 1 5 2000-05-30 O95400 CD2B2_HUMAN CD2BP2 CD2 antigen cytoplasmic tail-binding protein 2 341 37.6 16 Cytoplasm; Nucleus 0 0 10 1 5 2003-05-30 P01303 NPY_HUMAN NPY Pro-neuropeptide Y 97 10.9 7 Secreted; Cytoplasmic vesicle 0 0 10 1 5 1986-07-21 P01709 LV208_HUMAN IGLV2-8 Immunoglobulin lambda variable 2-8 118 12.4 22 Secreted; Cell membrane 0 0 10 1 5 1986-07-21 P02458 CO2A1_HUMAN COL2A1 Collagen alpha-1(II) chain 1487 141.8 12 Secreted 0 17 Spondyloepiphyseal dysplasia congenital type; Spondyloepiphyseal dysplasia, Stanescu type; Spondyloepimetaphyseal dysplasia, Strudwick type; Achondrogenesis 2; Legg-Calve-Perthes disease; Kniest dysplasia; Avascular necrosis of femoral head, primary, 1; Osteoarthritis with mild chondrodysplasia; Platyspondylic lethal skeletal dysplasia Torrance type; Multiple epiphyseal dysplasia with myopia and conductive deafness; Spondyloperipheral dysplasia; Stickler syndrome 1; Stickler syndrome 1 non-syndromic ocular; Rhegmatogenous retinal detachment autosomal dominant; Czech dysplasia; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Spondylometaphyseal dysplasia, Algerian type 10 1 5 1986-07-21 P04440 DPB1_HUMAN HLA-DPB1 HLA class II histocompatibility antigen, DP beta 1 chain 258 29.2 6 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endosome membrane; Lysosome membrane 1 0 10 1 5 1987-08-13 P04920 B3A2_HUMAN SLC4A2 Anion exchange protein 2 1241 137 7 Apical cell membrane; Basolateral cell membrane 10 1 Osteopetrosis, autosomal recessive 9 10 1 5 1987-08-13 P10747 CD28_HUMAN CD28 T-cell-specific surface glycoprotein CD28 220 25.1 2 Cell membrane 1 1 Immunodeficiency 123 with HPV-related verrucosis 10 1 5 1989-07-01 P15498 VAV_HUMAN VAV1 Proto-oncogene vav 845 98.3 19 0 0 10 1 5 1990-04-01 P23610 HAP40_HUMAN F8A1 40-kDa huntingtin-associated protein 371 39.1 X Cytoplasm; Nucleus; Early endosome 0 0 10 1 5 1991-11-01 P25208 NFYB_HUMAN NFYB Nuclear transcription factor Y subunit beta 207 22.8 12 Nucleus 0 0 10 1 5 1992-05-01 P35244 RFA3_HUMAN RPA3 Replication protein A 14 kDa subunit 121 13.6 7 Nucleus 0 0 10 1 5 1994-02-01 P51668 UB2D1_HUMAN UBE2D1 Ubiquitin-conjugating enzyme E2 D1 147 16.6 10 2.3.2.23 Cytoplasm 0 0 10 1 5 1996-10-01 P53667 LIMK1_HUMAN LIMK1 LIM domain kinase 1 647 72.6 7 2.7.11.1 Cytoplasm; Nucleus; Cell projection 0 0 10 1 5 1996-10-01 P63151 2ABA_HUMAN PPP2R2A Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B alpha isoform 447 51.7 8 0 0 10 1 5 2004-09-27 P67809 YBOX1_HUMAN YBX1 Y-box-binding protein 1 324 35.9 1 Cytoplasm; Nucleus; Cytoplasmic granule; Secreted 0 0 10 1 5 2004-10-11 Q07666 KHDR1_HUMAN KHDRBS1 KH domain-containing, RNA-binding, signal transduction-associated protein 1 443 48.2 1 Nucleus; Cytoplasm; Membrane 0 0 10 1 5 2005-04-12 Q14258 TRI25_HUMAN TRIM25 E3 ubiquitin/ISG15 ligase TRIM25 630 71 17 6.3.2.n3 Cytoplasm; Nucleus 0 0 10 1 5 2001-01-24 Q14914 PTGR1_HUMAN PTGR1 Prostaglandin reductase 1 329 35.9 9 Cytoplasm 0 0 10 1 5 1997-11-01 Q15650 TRIP4_HUMAN TRIP4 Activating signal cointegrator 1 581 66.1 15 Nucleus; Cytoplasm 0 2 Spinal muscular atrophy with congenital bone fractures 1; Muscular dystrophy, congenital, Davignon-Chauveau type 10 1 5 1997-11-01 Q7Z3B4 NUP54_HUMAN NUP54 Nucleoporin p54 507 55.4 4 Nucleus; Nucleus membrane 0 1 Dystonia 37, early-onset, with striatal lesions 10 1 5 2003-10-31 Q8IUX4 ABC3F_HUMAN APOBEC3F DNA dC->dU-editing enzyme APOBEC-3F 373 45 22 3.5.4.38 Cytoplasm 0 0 10 1 5 2004-03-29 Q8N766 EMC1_HUMAN EMC1 ER membrane protein complex subunit 1 993 111.8 1 Endoplasmic reticulum membrane 1 1 Cerebellar atrophy, visual impairment, and psychomotor retardation 10 1 5 2006-09-05 Q8WTW4 NPRL2_HUMAN NPRL2 GATOR1 complex protein NPRL2 380 43.7 3 Lysosome membrane 0 1 Epilepsy, familial focal, with variable foci 2 10 1 5 2004-05-10 Q92826 HXB13_HUMAN HOXB13 Homeobox protein Hox-B13 284 30.7 17 Nucleus 0 1 Prostate cancer, hereditary, 9 10 1 5 1997-11-01 Q96F46 I17RA_HUMAN IL17RA Interleukin-17 receptor A 866 96.1 22 Cell membrane 1 1 Immunodeficiency 51 10 1 5 2002-05-02 Q9BTD8 RBM42_HUMAN RBM42 RNA-binding protein 42 480 50.4 19 Nucleus; Cytoplasm 0 0 10 1 5 2007-10-23 Q9BYJ9 YTHD1_HUMAN YTHDF1 YTH domain-containing family protein 1 559 60.9 20 Cytoplasm 0 0 10 1 5 2003-02-12 Q9H169 STMN4_HUMAN STMN4 Stathmin-4 189 22.1 8 Golgi apparatus; Cell projection 0 0 10 1 5 2001-11-16 Q9H6T3 RPAP3_HUMAN RPAP3 RNA polymerase II-associated protein 3 665 75.7 12 0 0 10 1 5 2007-09-11 Q9H6W3 RIOX1_HUMAN RIOX1 Ribosomal oxygenase 1 641 71.1 14 Nucleus 0 0 10 1 5 2006-12-12 Q9NVX7 KBTB4_HUMAN KBTBD4 Kelch repeat and BTB domain-containing protein 4 534 59.9 11 0 0 10 1 5 2004-01-16 Q9P0U3 SENP1_HUMAN SENP1 Sentrin-specific protease 1 644 73.5 12 3.4.22.- Nucleus; Cytoplasm 0 0 10 1 5 2002-11-28 Q9UMX1 SUFU_HUMAN SUFU Suppressor of fused homolog 484 53.9 10 Cytoplasm; Nucleus; Cell projection 0 3 Medulloblastoma; Joubert syndrome 32; Basal cell nevus syndrome 2 10 1 5 2005-04-12 Q9Y4X5 ARI1_HUMAN ARIH1 E3 ubiquitin-protein ligase ARIH1 557 64.1 15 2.3.2.31 Cytoplasm; Nucleus 0 0 10 1 5 2001-09-26 Q8TDN6 BRX1_HUMAN BRIX1 Ribosome biogenesis protein BRX1 homolog 353 41.4 5 Nucleus 0 0 10 1 4 2003-05-09 P33552 CKS2_HUMAN CKS2 Cyclin-dependent kinases regulatory subunit 2 79 9.9 9 0 0 10 1 3 1994-02-01 Q9Y3C1 NOP16_HUMAN NOP16 Nucleolar protein 16 178 21.2 5 Nucleus 0 0 10 1 3 2000-05-30 O00478 BT3A3_HUMAN BTN3A3 Butyrophilin subfamily 3 member A3 584 65 6 Cell membrane 1 0 9 1 5 2005-02-01 O00762 UBE2C_HUMAN UBE2C Ubiquitin-conjugating enzyme E2 C 179 19.7 20 2.3.2.23 0 0 9 1 5 1998-12-15 O14907 TX1B3_HUMAN TAX1BP3 Tax1-binding protein 3 124 13.7 17 Cytoplasm; Nucleus; Cell membrane 0 0 9 1 5 2006-05-02 O15540 FABP7_HUMAN FABP7 Fatty acid-binding protein, brain 132 14.9 6 Cytoplasm 0 0 9 1 5 1998-07-15 O60942 MCE1_HUMAN RNGTT mRNA-capping enzyme 597 68.6 6 Nucleus 0 0 9 1 5 2000-05-30 O75151 PHF2_HUMAN PHF2 Lysine-specific demethylase PHF2 1096 120.8 9 1.14.11.- Nucleus; Chromosome 0 0 9 1 5 2003-08-15 O75396 SC22B_HUMAN SEC22B Vesicle-trafficking protein SEC22b 215 24.7 1 Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus; Melanosome 1 0 9 1 5 2004-03-29 P02748 CO9_HUMAN C9 Complement component C9 559 63.2 5 Secreted; Target cell membrane 4 2 Complement component 9 deficiency; Macular degeneration, age-related, 15 9 1 5 1986-07-21 P07492 GRP_HUMAN GRP Gastrin-releasing peptide 148 16.2 18 Secreted; Cytoplasmic vesicle; Cell projection 0 0 9 1 5 1988-04-01 P10646 TFPI1_HUMAN TFPI Tissue factor pathway inhibitor 304 35 2 Secreted 0 0 9 1 5 1989-07-01 P16473 TSHR_HUMAN TSHR Thyrotropin receptor 764 86.8 14 Cell membrane; Basolateral cell membrane 7 3 Hypothyroidism, congenital, non-goitrous, 1; Familial gestational hyperthyroidism; Hyperthyroidism, non-autoimmune 9 1 5 1990-08-01 P27449 VATL_HUMAN ATP6V0C V-type proton ATPase 16 kDa proteolipid subunit c 155 15.7 16 Cytoplasmic vesicle; Lysosome membrane 4 1 Epilepsy, early-onset, 3, with or without developmental delay 9 1 5 1992-08-01 P43358 MAGA4_HUMAN MAGEA4 Melanoma-associated antigen 4 317 34.9 X 0 0 9 1 5 1995-11-01 P48960 AGRE5_HUMAN ADGRE5 Adhesion G protein-coupled receptor E5 835 91.9 19 Cell membrane 7 0 9 1 5 1996-02-01 P50552 VASP_HUMAN VASP Vasodilator-stimulated phosphoprotein 380 39.8 19 Cytoplasm; Cell junction; Cell projection 0 0 9 1 5 1996-10-01 P57105 SYJ2B_HUMAN SYNJ2BP Synaptojanin-2-binding protein 145 15.9 14 Mitochondrion outer membrane 1 0 9 1 5 2000-12-01 Q13564 ULA1_HUMAN NAE1 NEDD8-activating enzyme E1 regulatory subunit 534 60.2 16 Cell membrane 0 1 Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia 9 1 5 2004-07-19 Q13705 AVR2B_HUMAN ACVR2B Activin receptor type-2B 512 57.7 3 2.7.11.30 Cell membrane 1 1 Heterotaxy, visceral, 4, autosomal 9 1 5 1997-11-01 Q13822 ENPP2_HUMAN ENPP2 Autotaxin 863 99 8 3.1.4.39, 3.1.4.4 Secreted 0 0 9 1 5 2002-09-19 Q13882 PTK6_HUMAN PTK6 Protein-tyrosine kinase 6 451 51.8 20 2.7.10.2 Cytoplasm; Nucleus; Cell projection; Membrane 0 0 9 1 5 2000-12-01 Q15020 SART3_HUMAN SART3 Spliceosome associated factor 3, U4/U6 recycling protein 963 109.9 12 Nucleus; Nucleus speckle; Cytoplasm 0 0 9 1 5 2006-02-07 Q5JWF2 GNAS1_HUMAN GNAS Guanine nucleotide-binding protein G(s) subunit alpha isoforms XLas 1037 111 20 3.6.5.- Cell membrane; Apical cell membrane 0 3 ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism 1B; Pseudohypoparathyroidism 1C 9 1 5 2006-10-17 Q6ZSG1 ARK2C_HUMAN ARK2C E3 ubiquitin-protein ligase ARK2C 346 39.5 18 2.3.2.27 Nucleus 0 0 9 1 5 2006-07-11 Q86SQ9 DHDDS_HUMAN DHDDS Dehydrodolichyl diphosphate synthase complex subunit DHDDS 333 38.7 1 2.5.1.87 Endoplasmic reticulum membrane 0 3 Retinitis pigmentosa 59; Developmental delay and seizures with or without movement abnormalities; Congenital disorder of glycosylation 1BB 9 1 5 2004-04-13 Q86U70 LDB1_HUMAN LDB1 LIM domain-binding protein 1 411 46.5 10 Nucleus 0 0 9 1 5 2005-07-05 Q86W50 MET16_HUMAN METTL16 RNA N(6)-adenosine-methyltransferase METTL16 562 63.6 17 2.1.1.348 Nucleus; Cytoplasm 0 0 9 1 5 2007-11-13 Q8IWA4 MFN1_HUMAN MFN1 Mitofusin-1 741 84.2 3 3.6.5.- Mitochondrion outer membrane 2 0 9 1 5 2004-05-24 Q8NEZ4 KMT2C_HUMAN KMT2C Histone-lysine N-methyltransferase 2C 4911 541.4 7 2.1.1.364 Nucleus 0 1 Kleefstra syndrome 2 9 1 5 2003-10-10 Q8TAQ2 SMRC2_HUMAN SMARCC2 SWI/SNF complex subunit SMARCC2 1214 132.9 12 Nucleus 0 1 Coffin-Siris syndrome 8 9 1 5 2005-01-04 Q8TB45 DPTOR_HUMAN DEPTOR DEP domain-containing mTOR-interacting protein 409 46.3 8 Lysosome membrane 0 0 9 1 5 2007-04-17 Q8WTX7 CAST1_HUMAN CASTOR1 Cytosolic arginine sensor for mTORC1 subunit 1 329 36.3 22 Cytoplasm 0 0 9 1 5 2008-09-02 Q92997 DVL3_HUMAN DVL3 Segment polarity protein dishevelled homolog DVL-3 716 78.1 3 Cytoplasm 0 1 Robinow syndrome, autosomal dominant 3 9 1 5 2000-05-30 Q96EB6 SIR1_HUMAN SIRT1 NAD-dependent protein deacetylase sirtuin-1 747 81.7 10 2.3.1.286 Nucleus; Cytoplasm 0 0 9 1 5 2003-10-31 Q96EE3 SEH1_HUMAN SEH1L Nucleoporin SEH1 360 39.6 18 Chromosome; Nucleus; Lysosome membrane 0 0 9 1 5 2003-03-28 Q99619 SPSB2_HUMAN SPSB2 SPRY domain-containing SOCS box protein 2 263 28.6 12 Cytoplasm 0 0 9 1 5 2006-05-30 Q99828 CIB1_HUMAN CIB1 Calcium and integrin-binding protein 1 191 21.7 15 Membrane; Cell membrane; Apical cell membrane; Cell projection; Cytoplasm; Nucleus; Perikaryon 0 1 Epidermodysplasia verruciformis 3 9 1 5 1997-11-01 Q9BYX4 IFIH1_HUMAN IFIH1 Interferon-induced helicase C domain-containing protein 1 1025 116.7 2 3.6.4.13 Cytoplasm; Nucleus; Mitochondrion 0 4 Type 1 diabetes mellitus 19; Aicardi-Goutieres syndrome 7; Singleton-Merten syndrome 1; Immunodeficiency 95 9 1 5 2005-04-12 Q9GZN1 ARP6_HUMAN ACTR6 Actin-related protein 6 396 45.8 12 Cytoplasm; Nucleus 0 0 9 1 5 2003-01-27 Q9H0U4 RAB1B_HUMAN RAB1B Ras-related protein Rab-1B 201 22.2 11 3.6.5.2 Cytoplasm; Membrane; Preautophagosomal structure membrane 0 0 9 1 5 2002-09-19 Q9H6E5 STPAP_HUMAN TUT1 Speckle targeted PIP5K1A-regulated poly(A) polymerase 874 93.8 11 2.7.7.19 Nucleus; Nucleus speckle 0 0 9 1 5 2006-10-31 Q9HCH5 SYTL2_HUMAN SYTL2 Synaptotagmin-like protein 2 934 104.9 11 Cytoplasm; Cell membrane 0 0 9 1 5 2003-07-25 Q9HD23 MRS2_HUMAN MRS2 Magnesium transporter MRS2 homolog, mitochondrial 443 50.3 6 Mitochondrion inner membrane 2 0 9 1 5 2005-11-22 Q9NQW8 CNGB3_HUMAN CNGB3 Cyclic nucleotide-gated channel beta-3 809 92.2 8 Photoreceptor outer segment membrane; Cell membrane 7 2 Stargardt disease 1; Achromatopsia 3 9 1 5 2004-03-29 Q9Y6L6 SO1B1_HUMAN SLCO1B1 Solute carrier organic anion transporter family member 1B1 691 76.4 12 Basolateral cell membrane; Basal cell membrane 12 1 Hyperbilirubinemia, Rotor type 9 1 5 2000-12-01 O43402 EMC8_HUMAN EMC8 ER membrane protein complex subunit 8 210 23.8 16 Endoplasmic reticulum membrane 0 0 9 1 5 2001-09-26 O75970 MPDZ_HUMAN MPDZ Multiple PDZ domain protein 2070 221.6 9 Cell membrane; Apical cell membrane; Postsynaptic density; Cell projection; Cell junction; Synapse 0 1 Hydrocephalus, congenital, 2, with or without brain or eye anomalies 9 1 5 2005-06-21 O95363 SYFM_HUMAN FARS2 Phenylalanine--tRNA ligase, mitochondrial 451 52.4 6 6.1.1.20 Mitochondrion matrix; Mitochondrion 0 2 Combined oxidative phosphorylation deficiency 14; Spastic paraplegia 77, autosomal recessive 9 1 5 2004-11-23 O95863 SNAI1_HUMAN SNAI1 Zinc finger protein SNAI1 264 29.1 20 Nucleus; Cytoplasm 0 0 9 1 5 2000-05-30 O95970 LGI1_HUMAN LGI1 Leucine-rich glioma-inactivated protein 1 557 63.8 10 Secreted; Synapse; Cytoplasm 0 2 Epilepsy, familial temporal lobe, 1; Developmental and epileptic encephalopathy 121 9 1 5 2003-07-03 P06576 ATPB_HUMAN ATP5F1B ATP synthase F(1) complex subunit beta, mitochondrial 529 56.6 12 7.1.2.2 Mitochondrion inner membrane 0 2 Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2; Dystonia 38 9 1 5 1988-01-01 P07988 PSPB_HUMAN SFTPB Pulmonary surfactant-associated protein B 381 42.1 2 Secreted 0 2 Pulmonary surfactant metabolism dysfunction 1; Respiratory distress syndrome in premature infants 9 1 5 1988-08-01 P12318 FCG2A_HUMAN FCGR2A Low affinity immunoglobulin gamma Fc region receptor II-a 317 35 1 Cell membrane 1 0 9 1 5 1989-10-01 P12532 KCRU_HUMAN CKMT1A Creatine kinase U-type, mitochondrial 417 47 15 2.7.3.2 Mitochondrion inner membrane 0 0 9 1 5 1989-10-01 P20023 CR2_HUMAN CR2 Complement receptor type 2 1033 112.9 1 Cell membrane 1 2 Systemic lupus erythematosus 9; Immunodeficiency, common variable, 7 9 1 5 1991-02-01 P20702 ITAX_HUMAN ITGAX Integrin alpha-X 1163 127.8 16 Cell membrane 1 0 9 1 5 1991-02-01 P39060 COIA1_HUMAN COL18A1 Collagen alpha-1(XVIII) chain 1754 178.2 21 Secreted 0 2 Knobloch syndrome 1; Glaucoma, primary closed-angle 9 1 5 1995-02-01 P48740 MASP1_HUMAN MASP1 Mannan-binding lectin serine protease 1 699 79.2 3 3.4.21.- Secreted 0 1 3MC syndrome 1 9 1 5 1996-02-01 P49662 CASP4_HUMAN CASP4 Caspase-4 377 43.3 11 3.4.22.57 Cytoplasm; Endoplasmic reticulum membrane; Mitochondrion; Inflammasome; Secreted 0 0 9 1 5 1996-02-01 P51798 CLCN7_HUMAN CLCN7 H(+)/Cl(-) exchange transporter 7 805 88.7 16 Lysosome membrane 10 3 Osteopetrosis, autosomal recessive 4; Osteopetrosis, autosomal dominant 2; Hypopigmentation, organomegaly, and delayed myelination and development 9 1 5 1996-10-01 P61011 SRP54_HUMAN SRP54 Signal recognition particle subunit SRP54 504 55.7 14 3.6.5.4 Nucleus speckle; Cytoplasm; Endoplasmic reticulum 0 1 Neutropenia, severe congenital 8, autosomal dominant 9 1 5 2004-04-26 P61978 HNRPK_HUMAN HNRNPK Heterogeneous nuclear ribonucleoprotein K 463 51 9 Cytoplasm; Nucleus; Cell projection 0 1 Au-Kline syndrome 9 1 5 2004-06-07 Q16512 PKN1_HUMAN PKN1 Serine/threonine-protein kinase N1 942 103.9 19 2.7.11.13 Cytoplasm; Nucleus; Endosome; Cell membrane; Cleavage furrow; Midbody 0 0 9 1 5 1999-07-15 Q16651 PRSS8_HUMAN PRSS8 Prostasin 343 36.4 16 3.4.21.- Cell membrane 1 0 9 1 5 1997-11-01 Q16763 UBE2S_HUMAN UBE2S Ubiquitin-conjugating enzyme E2 S 222 23.8 19 2.3.2.23 0 0 9 1 5 1997-11-01 Q2TAY7 SMU1_HUMAN SMU1 WD40 repeat-containing protein SMU1 513 57.5 9 Cytoplasm; Nucleus; Nucleus speckle 0 0 9 1 5 2006-05-30 Q401N2 ZACN_HUMAN ZACN Ligand-gated cation channel ZACN 412 45.8 17 Cell membrane 4 0 9 1 5 2008-02-05 Q5J8M3 EMC4_HUMAN EMC4 ER membrane protein complex subunit 4 183 20.1 15 Endoplasmic reticulum membrane 3 0 9 1 5 2006-10-03 Q66K64 DCA15_HUMAN DCAF15 DDB1- and CUL4-associated factor 15 600 66.5 19 0 0 9 1 5 2008-01-15 Q6P5S7 RNK_HUMAN RNASEK Ribonuclease kappa 137 15.4 17 3.1.-.- Endomembrane system; Cytoplasmic vesicle 2 0 9 1 5 2008-07-22 Q86Y38 XYLT1_HUMAN XYLT1 Xylosyltransferase 1 959 107.6 16 2.4.2.26 Golgi apparatus membrane; Secreted 1 2 Desbuquois dysplasia 2; Pseudoxanthoma elasticum 9 1 5 2005-05-10 Q92890 UFD1_HUMAN UFD1 Ubiquitin recognition factor in ER-associated degradation protein 1 307 34.5 22 Nucleus; Cytoplasm 0 0 9 1 5 1997-11-01 Q96EY4 TMA16_HUMAN TMA16 Translation machinery-associated protein 16 203 23.9 4 Nucleus 0 0 9 1 5 2008-02-26 Q96JM7 LMBL3_HUMAN L3MBTL3 Lethal(3)malignant brain tumor-like protein 3 780 88.3 6 Nucleus 0 0 9 1 5 2005-04-26 Q96PU4 UHRF2_HUMAN UHRF2 E3 ubiquitin-protein ligase UHRF2 802 90 9 2.3.2.27 Nucleus; Chromosome 0 0 9 1 5 2005-06-07 Q99638 RAD9A_HUMAN RAD9A Cell cycle checkpoint control protein RAD9A 391 42.5 11 3.1.11.2 Nucleus 0 0 9 1 5 2006-03-07 Q9BU64 CENPO_HUMAN CENPO Centromere protein O 300 33.8 2 Nucleus; Chromosome 0 0 9 1 5 2006-09-19 Q9H1Y0 ATG5_HUMAN ATG5 Autophagy protein 5 275 32.4 6 Cytoplasm; Preautophagosomal structure membrane 0 1 Spinocerebellar ataxia, autosomal recessive, 25 9 1 5 2001-11-16 Q9H3R5 CENPH_HUMAN CENPH Centromere protein H 247 28.5 5 Nucleus; Chromosome 0 0 9 1 5 2005-11-08 Q9NXV2 KCTD5_HUMAN KCTD5 BTB/POZ domain-containing protein KCTD5 234 26.1 16 Cytoplasm; Nucleus 0 0 9 1 5 2004-07-19 Q9UHB7 AFF4_HUMAN AFF4 AF4/FMR2 family member 4 1163 127.5 5 Nucleus; Chromosome 0 1 CHOPS syndrome 9 1 5 2006-06-13 Q9UHB9 SRP68_HUMAN SRP68 Signal recognition particle subunit SRP68 627 70.7 17 Cytoplasm; Nucleus; Endoplasmic reticulum 0 1 Neutropenia, severe congenital, 10, autosomal recessive 9 1 5 2001-01-11 Q9ULR0 ISY1_HUMAN ISY1 Pre-mRNA-splicing factor ISY1 homolog 285 33 3 Nucleus 0 0 9 1 5 2006-05-16 Q9UNS1 TIM_HUMAN TIMELESS Protein timeless homolog 1208 138.7 12 Nucleus; Chromosome 0 1 Advanced sleep phase syndrome, familial, 4 9 1 5 2005-03-15 Q9Y4A5 TRRAP_HUMAN TRRAP Transformation/transcription domain-associated protein 3859 437.6 7 Nucleus 0 2 Developmental delay with or without dysmorphic facies and autism; Deafness, autosomal dominant, 75 9 1 5 2003-11-28 A8MW92 P20L1_HUMAN PHF20L1 PHD finger protein 20-like protein 1 1017 115 8 Nucleus 0 0 9 1 5 2008-05-20 O14842 FFAR1_HUMAN FFAR1 Free fatty acid receptor 1 300 31.5 19 Cell membrane 7 0 9 1 5 1998-07-15 O15342 VA0E1_HUMAN ATP6V0E1 V-type proton ATPase subunit e 1 81 9.4 5 Membrane 2 0 9 1 5 1998-07-15 O15394 NCAM2_HUMAN NCAM2 Neural cell adhesion molecule 2 837 93 21 Cell membrane 1 0 9 1 5 1998-07-15 O43252 PAPS1_HUMAN PAPSS1 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 624 70.8 4 0 0 9 1 5 2000-05-30 O43639 NCK2_HUMAN NCK2 Cytoplasmic protein NCK2 380 42.9 2 Cytoplasm; Endoplasmic reticulum 0 0 9 1 5 2000-12-01 O43837 IDH3B_HUMAN IDH3B Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial 385 42.2 20 Mitochondrion 0 1 Retinitis pigmentosa 46 9 1 5 1999-07-15 O60566 BUB1B_HUMAN BUB1B Mitotic checkpoint serine/threonine-protein kinase BUB1 beta 1050 119.5 15 2.7.11.1 Cytoplasm; Nucleus; Chromosome 0 2 Premature chromatid separation trait; Mosaic variegated aneuploidy syndrome 1 9 1 5 2000-05-30 P00325 ADH1B_HUMAN ADH1B All-trans-retinol dehydrogenase [NAD(+)] ADH1B 375 39.8 4 1.1.1.105 Cytoplasm 0 0 9 1 5 1986-07-21 P01210 PENK_HUMAN PENK Proenkephalin-A 267 30.8 8 Cytoplasmic vesicle; Secreted 0 0 9 1 5 1986-07-21 P05543 THBG_HUMAN SERPINA7 Thyroxine-binding globulin 415 46.3 X Secreted 0 0 9 1 5 1988-11-01 P06307 CCKN_HUMAN CCK Cholecystokinin 115 12.7 3 Secreted 0 0 9 1 5 1988-01-01 P07339 CATD_HUMAN CTSD Cathepsin D 412 44.6 11 3.4.23.5 Lysosome; Melanosome; Secreted 0 1 Ceroid lipofuscinosis, neuronal, 10 9 1 5 1988-04-01 P13727 PRG2_HUMAN PRG2 Bone marrow proteoglycan 222 25.2 11 Secreted 0 0 9 1 5 1990-01-01 P22301 IL10_HUMAN IL10 Interleukin-10 178 20.5 1 Secreted 0 0 9 1 5 1991-08-01 P23415 GLRA1_HUMAN GLRA1 Glycine receptor subunit alpha-1 457 52.6 5 Postsynaptic cell membrane; Synapse; Perikaryon; Cell projection; Cell membrane 4 1 Hyperekplexia 1 9 1 5 1991-11-01 P35523 CLCN1_HUMAN CLCN1 Chloride channel protein 1 988 108.6 7 Cell membrane 5 2 Myotonia congenita, autosomal dominant; Myotonia congenita, autosomal recessive 9 1 5 1994-06-01 P42684 ABL2_HUMAN ABL2 Tyrosine-protein kinase ABL2 1182 128.3 1 2.7.10.2 Cytoplasm 0 0 9 1 5 1995-11-01 P43146 DCC_HUMAN DCC Netrin receptor DCC 1447 158.5 18 Membrane 1 2 Mirror movements 1; Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development 9 1 5 1995-11-01 P48047 ATPO_HUMAN ATP5PO ATP synthase peripheral stalk subunit OSCP, mitochondrial 213 23.3 21 Mitochondrion; Mitochondrion inner membrane 0 1 Mitochondrial complex V deficiency, nuclear type 7 9 1 5 1996-02-01 P52179 MYOM1_HUMAN MYOM1 Myomesin-1 1685 187.6 18 Cytoplasm 0 0 9 1 5 1996-10-01 P52564 MP2K6_HUMAN MAP2K6 Dual specificity mitogen-activated protein kinase kinase 6 334 37.5 17 2.7.12.2 Nucleus; Cytoplasm 0 0 9 1 5 1996-10-01 P80511 S10AC_HUMAN S100A12 Protein S100-A12 92 10.6 1 Secreted; Cytoplasm; Cell membrane 0 0 9 1 5 1996-10-01 Q06455 MTG8_HUMAN RUNX1T1 Protein CBFA2T1 604 67.6 8 Nucleus 0 0 9 1 5 1997-11-01 Q13352 CENPR_HUMAN ITGB3BP Centromere protein R 177 20.2 1 Nucleus; Chromosome 0 0 9 1 5 2004-07-19 Q13356 PPIL2_HUMAN PPIL2 RING-type E3 ubiquitin-protein ligase PPIL2 520 58.8 22 2.3.2.27 Nucleus 0 0 9 1 5 2002-10-10 Q13432 U119A_HUMAN UNC119 Protein unc-119 homolog A 240 27 17 Cytoplasm 0 2 Immunodeficiency 13; Cone-rod dystrophy 24 9 1 5 1997-11-01 Q14432 PDE3A_HUMAN PDE3A cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A 1141 125 12 3.1.4.17 Membrane; Cytoplasm 6 1 Hypertension and brachydactyly syndrome 9 1 5 1998-07-15 Q15054 DPOD3_HUMAN POLD3 DNA polymerase delta subunit 3 466 51.4 11 Cytoplasm; Nucleus 0 1 Immunodeficiency 122 9 1 5 1998-07-15 Q15233 NONO_HUMAN NONO Non-POU domain-containing octamer-binding protein 471 54.2 X Nucleus; Nucleus speckle; Chromosome 0 1 Intellectual developmental disorder, X-linked, syndromic 34 9 1 5 1998-07-15 Q15849 UT2_HUMAN SLC14A2 Urea transporter 2 920 101.2 18 Apical cell membrane; Cell membrane 17 0 9 1 5 1997-11-01 Q15904 VAS1_HUMAN ATP6AP1 V-type proton ATPase subunit S1 470 52 X Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cytoplasmic vesicle 1 1 Immunodeficiency 47 9 1 5 2001-01-11 Q16773 KAT1_HUMAN KYAT1 Kynurenine--oxoglutarate transaminase 1 422 47.9 9 2.6.1.7 Cytoplasm 0 0 9 1 5 2004-04-13 Q16881 TRXR1_HUMAN TXNRD1 Thioredoxin reductase 1, cytoplasmic 649 70.9 12 1.8.1.9 Cytoplasm 0 0 9 1 5 1997-11-01 Q6ZNX1 SHLD3_HUMAN SHLD3 Shieldin complex subunit 3 250 28.8 5 Chromosome 0 0 9 1 5 2017-03-15 Q7L2Z9 CENPQ_HUMAN CENPQ Centromere protein Q 268 30.6 6 Nucleus; Chromosome 0 0 9 1 5 2005-07-05 Q8IWT6 LRC8A_HUMAN LRRC8A Volume-regulated anion channel subunit LRRC8A 810 94.2 9 Cell membrane; Lysosome membrane 4 1 Agammaglobulinemia 5, autosomal dominant 9 1 5 2003-10-03 Q8IZA0 K319L_HUMAN KIAA0319L Dyslexia-associated protein KIAA0319-like protein 1049 115.7 1 Cytoplasmic granule membrane; Golgi apparatus membrane; Golgi apparatus; Cell membrane 2 0 9 1 5 2008-04-29 Q8N3R9 PALS1_HUMAN PALS1 Protein PALS1 675 77.3 14 Golgi apparatus; Cell membrane; Endomembrane system; Cell junction; Cell projection; Perikaryon; Apical cell membrane 0 0 9 1 5 2003-01-10 Q8N3U4 STAG2_HUMAN STAG2 Cohesin subunit SA-2 1231 141.3 X Nucleus; Chromosome 0 2 Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linked 9 1 5 2003-03-25 Q96E22 NGBR_HUMAN NUS1 Dehydrodolichyl diphosphate synthase complex subunit NUS1 293 33.2 6 2.5.1.87 Endoplasmic reticulum membrane 3 2 Congenital disorder of glycosylation 1AA; Intellectual developmental disorder, autosomal dominant 55, with seizures 9 1 5 2007-01-23 Q96GD0 PLPP_HUMAN PDXP Chronophin 296 31.7 22 3.1.3.16, 3.1.3.74 Cytoplasm; Cell projection; Cell membrane 0 0 9 1 5 2004-03-01 Q96MU8 KREM1_HUMAN KREMEN1 Kremen protein 1 473 51.7 22 Cell membrane 1 1 Ectodermal dysplasia 13, hair/tooth type 9 1 5 2002-05-15 Q96PD4 IL17F_HUMAN IL17F Interleukin-17F 163 18 6 Secreted 0 1 Candidiasis, familial, 6 9 1 5 2002-01-31 Q9BZW2 S13A1_HUMAN SLC13A1 Solute carrier family 13 member 1 595 66.1 7 Apical cell membrane 11 0 9 1 5 2002-09-19 Q9NS75 CLTR2_HUMAN CYSLTR2 Cysteinyl leukotriene receptor 2 346 39.6 13 Cell membrane 7 0 9 1 5 2002-02-11 Q9NZK7 PA2GE_HUMAN PLA2G2E Group IIE secretory phospholipase A2 142 16 1 3.1.1.4 Secreted; Cytoplasm 0 0 9 1 5 2002-02-11 Q9UMR2 DD19B_HUMAN DDX19B ATP-dependent RNA helicase DDX19B 479 53.9 16 3.6.4.13 Cytoplasm; Nucleus 0 0 9 1 5 2000-12-01 Q9UPN9 TRI33_HUMAN TRIM33 E3 ubiquitin-protein ligase TRIM33 1127 122.5 1 2.3.2.27 Nucleus 0 1 Developmental dysplasia of the hip 4 9 1 5 2001-01-24 Q9Y6Y9 LY96_HUMAN LY96 Lymphocyte antigen 96 160 18.5 8 Secreted 0 0 9 1 5 2002-03-27 O43683 BUB1_HUMAN BUB1 Mitotic checkpoint serine/threonine-protein kinase BUB1 1085 122.4 2 2.7.11.1 Nucleus; Chromosome 0 1 Microcephaly 30, primary, autosomal recessive 9 1 5 2000-05-30 O94874 UFL1_HUMAN UFL1 E3 UFM1-protein ligase 1 794 89.6 6 2.3.2.- Endoplasmic reticulum membrane; Cytoplasm; Nucleus; Chromosome 0 0 9 1 5 2005-06-21 O95749 GGPPS_HUMAN GGPS1 Geranylgeranyl pyrophosphate synthase 300 34.9 1 2.5.1.- Cytoplasm 0 1 Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 9 1 5 2000-05-30 P04004 VTNC_HUMAN VTN Vitronectin 478 54.3 17 Secreted 0 0 9 1 5 1986-10-23 P04632 CPNS1_HUMAN CAPNS1 Calpain small subunit 1 268 28.3 19 Cytoplasm; Cell membrane 0 1 Pulmonary hypertension, primary, 6 9 1 5 1987-08-13 P05026 AT1B1_HUMAN ATP1B1 Sodium/potassium-transporting ATPase subunit beta-1 303 35.1 1 Cell membrane; Apical cell membrane 1 0 9 1 5 1987-08-13 P08559 ODPA_HUMAN PDHA1 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial 390 43.3 X 1.2.4.1 Mitochondrion matrix 0 1 Pyruvate dehydrogenase E1-alpha deficiency 9 1 5 1988-08-01 P13807 GYS1_HUMAN GYS1 Glycogen [starch] synthase, muscle 737 83.8 19 2.4.1.11 0 1 Muscle glycogen storage disease 0 9 1 5 1990-01-01 P16435 NCPR_HUMAN POR NADPH--cytochrome P450 reductase 677 76.7 7 1.6.2.4 Endoplasmic reticulum membrane 1 2 Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis; Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency 9 1 5 1990-08-01 P18859 ATP5J_HUMAN ATP5PF ATP synthase peripheral stalk subunit F6, mitochondrial 108 12.6 21 Mitochondrion; Mitochondrion inner membrane 0 0 9 1 5 1990-11-01 P20138 CD33_HUMAN CD33 Myeloid cell surface antigen CD33 364 39.8 19 Cell membrane 1 0 9 1 5 1991-02-01 P22314 UBA1_HUMAN UBA1 Ubiquitin-like modifier-activating enzyme 1 1058 117.8 X 6.2.1.45 Cytoplasm; Mitochondrion; Nucleus 0 2 Spinal muscular atrophy X-linked 2; VEXAS syndrome 9 1 5 1991-08-01 P25705 ATPA_HUMAN ATP5F1A ATP synthase F(1) complex subunit alpha, mitochondrial 553 59.8 18 Mitochondrion; Mitochondrion inner membrane; Cell membrane 0 3 Combined oxidative phosphorylation deficiency 22; Mitochondrial complex V deficiency, nuclear type 4A; Mitochondrial complex V deficiency, nuclear type 4B 9 1 5 1992-05-01 P26010 ITB7_HUMAN ITGB7 Integrin beta-7 798 86.9 12 Cell membrane 1 0 9 1 5 1992-05-01 P26196 DDX6_HUMAN DDX6 Probable ATP-dependent RNA helicase DDX6 483 54.4 11 3.6.4.13 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder with impaired language and dysmorphic facies 9 1 5 1992-05-01 P29372 3MG_HUMAN MPG DNA-3-methyladenine glycosylase 298 32.9 16 3.2.2.21 Cytoplasm; Mitochondrion matrix; Nucleus 0 0 9 1 5 1992-12-01 P32929 CGL_HUMAN CTH Cystathionine gamma-lyase 405 44.5 1 4.4.1.1 Cytoplasm 0 1 Cystathioninuria 9 1 5 1993-10-01 P35367 HRH1_HUMAN HRH1 Histamine H1 receptor 487 55.8 3 Cell membrane 7 0 9 1 5 1994-06-01 P39687 AN32A_HUMAN ANP32A Acidic leucine-rich nuclear phosphoprotein 32 family member A 249 28.6 15 Nucleus; Cytoplasm; Endoplasmic reticulum 0 0 9 1 5 1995-02-01 P40818 UBP8_HUMAN USP8 Ubiquitin carboxyl-terminal hydrolase 8 1118 127.5 15 3.4.19.12 Cytoplasm; Nucleus; Endosome membrane; Cell membrane 0 1 Pituitary adenoma 4, ACTH-secreting 9 1 5 1995-02-01 P41273 TNFL9_HUMAN TNFSF9 Tumor necrosis factor ligand superfamily member 9 254 26.6 19 Membrane 1 0 9 1 5 1995-02-01 P49591 SYSC_HUMAN SARS1 Serine--tRNA ligase, cytoplasmic 514 58.8 1 6.1.1.11 Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with microcephaly, ataxia, and seizures 9 1 5 1996-02-01 P49789 FHIT_HUMAN FHIT Bis(5'-adenosyl)-triphosphatase 147 16.9 3 3.6.1.29 Cytoplasm; Mitochondrion; Nucleus 0 0 9 1 5 1996-10-01 P51452 DUS3_HUMAN DUSP3 Dual specificity protein phosphatase 3 185 20.5 17 3.1.3.16, 3.1.3.48 Nucleus; Cytoplasm 0 0 9 1 5 1996-10-01 P55017 S12A3_HUMAN SLC12A3 Solute carrier family 12 member 3 1021 113.1 16 Cell membrane; Apical cell membrane 12 1 Gitelman syndrome 9 1 5 1996-10-01 P57764 GSDMD_HUMAN GSDMD Gasdermin-D 484 52.8 8 Cytoplasm; Inflammasome 4 0 9 1 5 2001-02-21 P61421 VA0D1_HUMAN ATP6V0D1 V-type proton ATPase subunit d 1 351 40.3 16 Membrane; Lysosome membrane; Cytoplasmic vesicle 0 0 9 1 5 2004-05-24 Q07955 SRSF1_HUMAN SRSF1 Serine/arginine-rich splicing factor 1 248 27.7 17 Chromosome; Cytoplasm; Nucleus speckle 0 1 Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities 9 1 5 1995-02-01 Q14527 HLTF_HUMAN HLTF DNA-dependent ATPase/E3 ubiquitin-protein ligase HLTF 1009 113.9 3 2.3.2.27, 3.6.4.- Nucleus; Chromosome 0 0 9 1 5 2005-03-01 Q14654 KCJ11_HUMAN KCNJ11 ATP-sensitive inward rectifier potassium channel 11 390 43.5 11 Membrane 2 4 Hyperinsulinemic hypoglycemia, familial, 2; Diabetes mellitus, permanent neonatal, 2; Diabetes mellitus, transient neonatal, 3; Maturity-onset diabetes of the young 13 9 1 5 1997-11-01 Q14674 ESPL1_HUMAN ESPL1 Separin 2120 233.2 12 3.4.22.49 Cytoplasm; Nucleus 0 0 9 1 5 2003-03-25 Q5T011 SZT2_HUMAN SZT2 KICSTOR complex protein SZT2 3432 378 1 Lysosome membrane; Peroxisome 0 1 Developmental and epileptic encephalopathy 18 9 1 5 2007-02-06 Q6IPU0 CENPP_HUMAN CENPP Centromere protein P 288 33.2 9 Nucleus; Chromosome 0 0 9 1 5 2006-09-19 Q6UX04 CWC27_HUMAN CWC27 Spliceosome-associated protein CWC27 homolog 472 53.8 5 Nucleus 0 1 Retinitis pigmentosa with or without skeletal anomalies 9 1 5 2008-01-15 Q86WC4 OSTM1_HUMAN OSTM1 Osteopetrosis-associated transmembrane protein 1 334 37.3 6 Lysosome membrane 1 1 Osteopetrosis, autosomal recessive 5 9 1 5 2004-08-16 Q8IWV8 UBR2_HUMAN UBR2 E3 ubiquitin-protein ligase UBR2 1755 200.5 6 2.3.2.27 Nucleus; Chromosome 0 0 9 1 5 2005-08-16 Q8IYB3 SRRM1_HUMAN SRRM1 Serine/arginine repetitive matrix protein 1 904 102.3 1 Nucleus matrix; Nucleus speckle 0 0 9 1 5 2005-12-06 Q8WWM9 CYGB_HUMAN CYGB Cytoglobin 190 21.4 17 Cytoplasm; Nucleus 0 0 9 1 5 2002-05-27 Q92674 CENPI_HUMAN CENPI Centromere protein I 756 86.7 X Nucleus; Chromosome 0 0 9 1 5 1997-11-01 Q96SY0 INT14_HUMAN INTS14 Integrator complex subunit 14 518 57.5 15 Nucleus 0 0 9 1 5 2007-07-24 Q99437 VATO_HUMAN ATP6V0B V-type proton ATPase 21 kDa proteolipid subunit c'' 205 21.4 1 Cytoplasmic vesicle 5 0 9 1 5 1999-07-15 Q99707 METH_HUMAN MTR Methionine synthase 1265 140.5 1 2.1.1.13 Cytoplasm 0 2 Homocystinuria-megaloblastic anemia, cblG type; Neural tube defects, folate-sensitive 9 1 5 1997-11-01 Q9BS16 CENPK_HUMAN CENPK Centromere protein K 269 31.7 5 Nucleus; Chromosome 0 0 9 1 5 2006-09-19 Q9BZV1 UBXN6_HUMAN UBXN6 UBX domain-containing protein 6 441 49.8 19 Cytoplasm; Membrane; Nucleus; Early endosome membrane; Late endosome membrane; Lysosome membrane 0 0 9 1 5 2003-05-16 Q9C0C9 UBE2O_HUMAN UBE2O (E3-independent) E2 ubiquitin-conjugating enzyme 1292 141.3 17 2.3.2.24 Cytoplasm; Nucleus 0 0 9 1 5 2007-03-20 Q9H0W8 SMG9_HUMAN SMG9 Nonsense-mediated mRNA decay factor SMG9 520 57.7 19 0 2 Heart and brain malformation syndrome; Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 9 1 5 2007-05-29 Q9NUB1 ACS2L_HUMAN ACSS1 Acetyl-coenzyme A synthetase 2-like, mitochondrial 689 74.9 20 6.2.1.1 Mitochondrion matrix 0 0 9 1 5 2003-04-23 Q9P0J7 KCMF1_HUMAN KCMF1 E3 ubiquitin-protein ligase KCMF1 381 41.9 2 2.3.2.27 Cytoplasm; Late endosome; Lysosome 0 0 9 1 5 2008-09-02 Q9P289 STK26_HUMAN STK26 Serine/threonine-protein kinase 26 416 46.5 X 2.7.11.1 Cytoplasm; Golgi apparatus 0 0 9 1 5 2005-08-16 Q9UDR5 AASS_HUMAN AASS Alpha-aminoadipic semialdehyde synthase, mitochondrial 926 102.1 7 Mitochondrion 0 2 Hyperlysinemia, 1; 2,4-dienoyl-CoA reductase deficiency 9 1 5 2004-04-13 Q9Y6X9 MORC2_HUMAN MORC2 ATPase MORC2 1032 117.8 22 3.6.1.- Nucleus; Cytoplasm; Chromosome; Nucleus matrix 0 2 Charcot-Marie-Tooth disease, axonal, type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 9 1 5 2002-07-26 O00311 CDC7_HUMAN CDC7 Cell division cycle 7-related protein kinase 574 63.9 1 2.7.11.1 Nucleus 0 0 9 1 5 2001-01-11 O15085 ARHGB_HUMAN ARHGEF11 Rho guanine nucleotide exchange factor 11 1522 167.7 1 Cytoplasm; Membrane 0 0 9 1 5 2003-08-29 O60844 ZG16_HUMAN ZG16 Zymogen granule membrane protein 16 167 18.1 16 Secreted; Zymogen granule lumen; Golgi apparatus lumen 0 0 9 1 5 2005-03-01 P04003 C4BPA_HUMAN C4BPA C4b-binding protein alpha chain 597 67 1 Secreted 0 0 9 1 5 1986-10-23 P05546 HEP2_HUMAN SERPIND1 Heparin cofactor 2 499 57.1 22 0 1 Thrombophilia due to heparin cofactor 2 deficiency 9 1 5 1988-11-01 P09132 SRP19_HUMAN SRP19 Signal recognition particle 19 kDa protein 144 16.2 5 Cytoplasm; Nucleus 0 0 9 1 5 1989-07-01 P09917 LOX5_HUMAN ALOX5 Polyunsaturated fatty acid 5-lipoxygenase 674 78 10 1.13.11.- Cytoplasm; Nucleus matrix; Nucleus membrane; Nucleus envelope; Nucleus intermembrane space 0 0 9 1 5 1989-07-01 P10826 RARB_HUMAN RARB Retinoic acid receptor beta 455 50.5 3 Nucleus; Cytoplasm 0 1 Microphthalmia, syndromic, 12 9 1 5 1989-07-01 P11177 ODPB_HUMAN PDHB Pyruvate dehydrogenase E1 component subunit beta, mitochondrial 359 39.2 3 1.2.4.1 Mitochondrion matrix 0 1 Pyruvate dehydrogenase E1-beta deficiency 9 1 5 1989-07-01 P25311 ZA2G_HUMAN AZGP1 Zinc-alpha-2-glycoprotein 298 34.3 7 Secreted 0 0 9 1 5 1992-05-01 P35348 ADA1A_HUMAN ADRA1A Alpha-1A adrenergic receptor 466 51.5 8 Nucleus membrane; Cell membrane; Cytoplasm; Membrane 7 0 9 1 5 1994-06-01 P46091 CML2_HUMAN CMKLR2 Chemerin-like receptor 2 355 41.4 2 Cell membrane 7 0 9 1 5 1995-11-01 P48067 SC6A9_HUMAN SLC6A9 Sodium- and chloride-dependent glycine transporter 1 706 78.3 1 Cell membrane 12 2 Glycine encephalopathy with normal serum glycine; Scoliosis, isolated, 6 9 1 5 1996-02-01 P48357 LEPR_HUMAN LEPR Leptin receptor 1165 132.5 1 Cell membrane; Basolateral cell membrane 1 1 Leptin receptor deficiency 9 1 5 1996-02-01 P48551 INAR2_HUMAN IFNAR2 Interferon alpha/beta receptor 2 515 57.8 21 Cell membrane 1 1 Immunodeficiency 45 9 1 5 1996-02-01 P51608 MECP2_HUMAN MECP2 Methyl-CpG-binding protein 2 486 52.4 X Nucleus 0 6 Angelman syndrome; Intellectual developmental disorder, X-linked, syndromic 13; Rett syndrome; Autism, X-linked 3; Encephalopathy, neonatal severe, due to MECP2 mutations; Intellectual developmental disorder, X-linked, syndromic, Lubs type 9 1 5 1996-10-01 Q13535 ATR_HUMAN ATR Serine/threonine-protein kinase ATR 2644 301.4 3 2.7.11.1 Nucleus; Chromosome; Nucleus envelope 0 2 Seckel syndrome 1; Cutaneous telangiectasia and cancer syndrome, familial 9 1 5 2005-03-29 Q13557 KCC2D_HUMAN CAMK2D Calcium/calmodulin-dependent protein kinase type II subunit delta 499 56.4 4 2.7.11.17 Cell membrane; Sarcoplasmic reticulum membrane 0 0 9 1 5 1997-11-01 Q16620 NTRK2_HUMAN NTRK2 BDNF/NT-3 growth factors receptor 822 92 9 2.7.10.1 Cell membrane; Endosome membrane; Early endosome membrane; Cell projection; Cytoplasm; Postsynaptic density 1 2 Developmental and epileptic encephalopathy 58; Obesity, hyperphagia, and developmental delay 9 1 5 1997-11-01 Q6VAB6 KSR2_HUMAN KSR2 Kinase suppressor of Ras 2 950 107.6 12 2.7.11.1 Cytoplasm; Membrane 0 0 9 1 5 2004-12-21 Q8NEM0 MCPH1_HUMAN MCPH1 Microcephalin 835 92.8 8 Cytoplasm 0 1 Microcephaly 1, primary, autosomal recessive 9 1 5 2004-05-24 Q92785 REQU_HUMAN DPF2 Zinc finger protein ubi-d4 391 44.2 11 Nucleus; Cytoplasm 0 1 Coffin-Siris syndrome 7 9 1 5 1997-11-01 Q96SZ5 AEDO_HUMAN ADO 2-aminoethanethiol dioxygenase 270 29.8 10 1.13.11.19 0 0 9 1 5 2004-10-11 Q9BYP7 WNK3_HUMAN WNK3 Serine/threonine-protein kinase WNK3 1800 198.4 X 2.7.11.1 Cytoplasm 0 1 Prieto syndrome 9 1 5 2004-02-02 Q9H2F5 EPC1_HUMAN EPC1 Enhancer of polycomb homolog 1 836 93.5 10 Nucleus; Cytoplasm 0 0 9 1 5 2005-02-15 Q9H9E1 ANRA2_HUMAN ANKRA2 Ankyrin repeat family A protein 2 313 34.3 5 Cytoplasm; Membrane 0 0 9 1 5 2003-01-10 Q9UH99 SUN2_HUMAN SUN2 SUN domain-containing protein 2 717 80.3 22 Nucleus inner membrane; Nucleus envelope; Endosome membrane 1 0 9 1 5 2002-08-02 Q9UL03 INT6_HUMAN INTS6 Integrator complex subunit 6 887 100.4 13 Nucleus; Chromosome 0 0 9 1 5 2006-10-31 Q9UPY8 MARE3_HUMAN MAPRE3 Microtubule-associated protein RP/EB family member 3 281 32 2 Cytoplasm 0 0 9 1 5 2002-01-23 Q9Y2U5 M3K2_HUMAN MAP3K2 Mitogen-activated protein kinase kinase kinase 2 619 69.7 2 2.7.11.25 Cytoplasm; Nucleus 0 0 9 1 5 2000-05-30 Q9Y5A7 NUB1_HUMAN NUB1 NEDD8 ultimate buster 1 615 70.5 7 Nucleus 0 0 9 1 5 2000-12-01 Q9UPC5 GPR34_HUMAN GPR34 Probable G protein-coupled receptor 34 381 43.9 X Cell membrane 7 0 9 1 4 2001-01-24 Q5SRI9 MANEA_HUMAN MANEA Glycoprotein endo-alpha-1,2-mannosidase 462 53.7 6 3.2.1.130 Golgi apparatus membrane 1 0 9 1 4 2007-04-03 Q8TDV5 GP119_HUMAN GPR119 Glucose-dependent insulinotropic receptor 335 36.9 X Cell membrane 7 0 9 1 4 2005-04-12 Q9Y2L8 ZKSC5_HUMAN ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 839 96.9 7 Nucleus 0 0 9 1 4 2000-12-01 A0A0B4J279 TVA21_HUMAN TRAV21 T cell receptor alpha variable 21 112 12.3 14 Cell membrane 0 0 9 1 3 2018-02-28 O14933 UB2L6_HUMAN UBE2L6 Ubiquitin/ISG15-conjugating enzyme E2 L6 153 17.8 11 2.3.2.23 0 0 8 1 5 2000-05-30 O15533 TPSN_HUMAN TAPBP Tapasin 448 47.6 6 Endoplasmic reticulum membrane 1 1 MHC class I deficiency 3 8 1 5 2001-01-24 O94901 SUN1_HUMAN SUN1 SUN domain-containing protein 1 785 87.1 7 Nucleus inner membrane 1 0 8 1 5 2002-08-02 O95342 ABCBB_HUMAN ABCB11 Bile salt export pump 1321 146.4 2 7.6.2.- Apical cell membrane; Recycling endosome membrane; Endosome; Cell membrane 12 2 Cholestasis, progressive familial intrahepatic, 2; Cholestasis, benign recurrent intrahepatic, 2 8 1 5 2001-01-24 O95393 BMP10_HUMAN BMP10 Bone morphogenetic protein 10 424 48 2 Secreted 0 0 8 1 5 2001-02-21 P01579 IFNG_HUMAN IFNG Interferon gamma 166 19.3 12 Secreted 0 2 Aplastic anemia; Immunodeficiency 69 8 1 5 1986-07-21 P01732 CD8A_HUMAN CD8A T-cell surface glycoprotein CD8 alpha chain 235 25.7 2 Cell membrane 1 1 Immunodeficiency 116 8 1 5 1986-07-21 P09603 CSF1_HUMAN CSF1 Macrophage colony-stimulating factor 1 554 60.2 1 Cell membrane 1 0 8 1 5 1989-07-01 P09914 IFIT1_HUMAN IFIT1 Antiviral innate immune response effector IFIT1 478 55.4 10 Cytoplasm 0 0 8 1 5 1989-07-01 P11308 ERG_HUMAN ERG Transcriptional regulator ERG 479 53.8 21 Nucleus; Cytoplasm 0 2 Ewing sarcoma; Lymphatic malformation 14 8 1 5 1989-07-01 P14784 IL2RB_HUMAN IL2RB Interleukin-2 receptor subunit beta 551 61.1 22 Cell membrane 1 1 Immunodeficiency 63 with lymphoproliferation and autoimmunity 8 1 5 1990-04-01 P15170 ERF3A_HUMAN GSPT1 Eukaryotic peptide chain release factor GTP-binding subunit ERF3A 499 55.8 16 3.6.5.- 0 0 8 1 5 1990-04-01 P23468 PTPRD_HUMAN PTPRD Receptor-type tyrosine-protein phosphatase delta 1912 214.8 9 3.1.3.48 Membrane 1 0 8 1 5 1991-11-01 P26022 PTX3_HUMAN PTX3 Pentraxin-related protein PTX3 381 42 3 Secreted 0 0 8 1 5 1992-05-01 P28335 5HT2C_HUMAN HTR2C 5-hydroxytryptamine receptor 2C 458 51.8 X Cell membrane 7 0 8 1 5 1992-12-01 P31948 STIP1_HUMAN STIP1 Stress-induced-phosphoprotein 1 543 62.6 11 Cytoplasm; Nucleus; Dynein axonemal particle 0 0 8 1 5 1993-07-01 P42658 DPP6_HUMAN DPP6 A-type potassium channel modulatory protein DPP6 865 97.6 7 Cell membrane 1 2 Familial paroxysmal ventricular fibrillation 2; Intellectual developmental disorder, autosomal dominant 33 8 1 5 1995-11-01 P43489 TNR4_HUMAN TNFRSF4 Tumor necrosis factor receptor superfamily member 4 277 29.3 1 Membrane 1 1 Immunodeficiency 16 8 1 5 1995-11-01 P46089 GPR3_HUMAN GPR3 G protein-coupled receptor 3 330 35 1 Cell membrane 7 0 8 1 5 1995-11-01 P47756 CAPZB_HUMAN CAPZB F-actin-capping protein subunit beta 272 30.6 1 Cytoplasm 0 0 8 1 5 1996-02-01 P48039 MTR1A_HUMAN MTNR1A Melatonin receptor type 1A 350 39.4 4 Cell membrane 7 0 8 1 5 1996-02-01 P55854 SUMO3_HUMAN SUMO3 Small ubiquitin-related modifier 3 103 11.6 21 Cytoplasm; Nucleus 0 0 8 1 5 1997-11-01 Q00341 VIGLN_HUMAN HDLBP Vigilin 1268 141.4 2 Cytoplasm; Nucleus 0 0 8 1 5 1997-11-01 Q02094 RHAG_HUMAN RHAG Ammonium transporter Rh type A 409 44.2 6 Membrane 12 2 Regulator type Rh-null hemolytic anemia; Overhydrated hereditary stomatocytosis 8 1 5 1994-06-01 Q14596 NBR1_HUMAN NBR1 Next to BRCA1 gene 1 protein 966 107.4 17 Cytoplasm; Cytoplasmic vesicle; Lysosome 0 0 8 1 5 1997-11-01 Q15024 EXOS7_HUMAN EXOSC7 Exosome complex component RRP42 291 31.8 3 Nucleus; Cytoplasm 0 0 8 1 5 2002-06-06 Q15326 ZMY11_HUMAN ZMYND11 Zinc finger MYND domain-containing protein 11 602 71 10 Nucleus; Chromosome 0 1 Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities 8 1 5 2000-12-01 Q15746 MYLK_HUMAN MYLK Myosin light chain kinase, smooth muscle 1914 210.7 3 2.7.11.18 Cytoplasm; Cell projection; Cleavage furrow 0 2 Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 8 1 5 1998-07-15 Q16181 SEPT7_HUMAN SEPTIN7 Septin-7 437 50.7 7 Cytoplasm; Chromosome; Cleavage furrow; Midbody; Cell projection 0 0 8 1 5 1997-11-01 Q16696 CP2AD_HUMAN CYP2A13 Cytochrome P450 2A13 494 56.7 19 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 8 1 5 1998-12-15 Q16864 VATF_HUMAN ATP6V1F V-type proton ATPase subunit F 119 13.4 7 Cytoplasmic vesicle 0 0 8 1 5 1997-11-01 Q8IUC6 TCAM1_HUMAN TICAM1 TIR domain-containing adapter molecule 1 712 76.4 19 Cytoplasmic vesicle; Cytoplasm; Mitochondrion 0 1 Encephalopathy, acute, infection-induced, 6, herpes-specific 8 1 5 2008-02-05 Q8NER1 TRPV1_HUMAN TRPV1 Transient receptor potential cation channel subfamily V member 1 839 95 17 Postsynaptic cell membrane; Cell projection; Cell membrane 6 0 8 1 5 2005-04-26 Q92784 DPF3_HUMAN DPF3 Zinc finger protein DPF3 378 43.1 14 Nucleus 0 0 8 1 5 1997-11-01 Q92956 TNR14_HUMAN TNFRSF14 Tumor necrosis factor receptor superfamily member 14 283 30.4 1 Cell membrane 1 0 8 1 5 2001-04-27 Q96B26 EXOS8_HUMAN EXOSC8 Exosome complex component RRP43 276 30 13 Cytoplasm; Nucleus 0 1 Pontocerebellar hypoplasia 1C 8 1 5 2002-07-11 Q96LW4 PRIPO_HUMAN PRIMPOL DNA-directed primase/polymerase protein 560 64.4 4 2.7.7.102, 2.7.7.7 Nucleus; Mitochondrion matrix; Chromosome 0 1 Myopia 22, autosomal dominant 8 1 5 2007-03-06 Q96RJ3 TR13C_HUMAN TNFRSF13C Tumor necrosis factor receptor superfamily member 13C 184 18.9 22 Membrane 1 1 Immunodeficiency, common variable, 4 8 1 5 2002-05-27 Q9H9Z2 LN28A_HUMAN LIN28A Protein lin-28 homolog A 209 22.7 1 Cytoplasm; Rough endoplasmic reticulum; Nucleus 0 0 8 1 5 2006-10-17 Q9NRF8 PYRG2_HUMAN CTPS2 CTP synthase 2 586 65.7 X 6.3.4.2 Cytoplasm; Nucleus 0 0 8 1 5 2006-07-25 Q9NVH2 INT7_HUMAN INTS7 Integrator complex subunit 7 962 106.8 1 Nucleus; Chromosome; Cytoplasm 0 0 8 1 5 2006-10-31 Q9NVR2 INT10_HUMAN INTS10 Integrator complex subunit 10 710 82.2 8 Nucleus 0 0 8 1 5 2006-05-16 Q9NW38 FANCL_HUMAN FANCL E3 ubiquitin-protein ligase FANCL 375 42.9 2 2.3.2.27 Cytoplasm; Nucleus 0 1 Fanconi anemia complementation group L 8 1 5 2003-10-10 Q9UL18 AGO1_HUMAN AGO1 Protein argonaute-1 857 97.2 1 Cytoplasm 0 1 Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 8 1 5 2000-12-01 Q9Y2C3 B3GT5_HUMAN B3GALT5 Beta-1,3-galactosyltransferase 5 310 36.2 21 2.4.1.- Golgi apparatus membrane 1 0 8 1 5 2001-02-21 Q9Y5X1 SNX9_HUMAN SNX9 Sorting nexin-9 595 66.6 6 Cytoplasmic vesicle membrane; Cell membrane; Cytoplasmic vesicle; Golgi apparatus; Cell projection; Cytoplasm 0 0 8 1 5 2000-12-01 Q9Y5Y9 SCNAA_HUMAN SCN10A Sodium channel protein type 10 subunit alpha 1956 220.6 3 Cell membrane 24 1 Episodic pain syndrome, familial, 2 8 1 5 2004-12-21 O14520 AQP7_HUMAN AQP7 Aquaporin-7 342 37.2 9 Cell membrane; Cytoplasmic vesicle membrane; Lipid droplet 6 0 8 1 5 1998-07-15 O43678 NDUA2_HUMAN NDUFA2 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 99 10.9 5 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 13 8 1 5 1999-07-15 O75348 VATG1_HUMAN ATP6V1G1 V-type proton ATPase subunit G 1 118 13.8 9 Apical cell membrane 0 0 8 1 5 2000-05-30 O75604 UBP2_HUMAN USP2 Ubiquitin carboxyl-terminal hydrolase 2 605 68.1 11 3.4.19.12 Cytoplasm 0 0 8 1 5 2000-12-01 O75717 WDHD1_HUMAN WDHD1 WD repeat and HMG-box DNA-binding protein 1 1129 126 14 Nucleus 0 0 8 1 5 2003-02-22 O95251 KAT7_HUMAN KAT7 Histone acetyltransferase KAT7 611 70.6 17 2.3.1.48 Nucleus; Chromosome; Cytoplasm 0 0 8 1 5 2005-07-05 O95931 CBX7_HUMAN CBX7 Chromobox protein homolog 7 251 28.3 22 Nucleus 0 0 8 1 5 2001-08-29 P01138 NGF_HUMAN NGF Beta-nerve growth factor 241 27 1 Secreted; Endosome lumen 0 1 Neuropathy, hereditary sensory and autonomic, 5 8 1 5 1986-07-21 P02654 APOC1_HUMAN APOC1 Apolipoprotein C-I 83 9.3 19 Secreted 0 0 8 1 5 1986-07-21 P04075 ALDOA_HUMAN ALDOA Fructose-bisphosphate aldolase A 364 39.4 16 4.1.2.13 Cytoplasm 0 1 Glycogen storage disease 12 8 1 5 1986-11-01 P13497 BMP1_HUMAN BMP1 Bone morphogenetic protein 1 986 111.2 8 3.4.24.19 Golgi apparatus; Secreted 0 1 Osteogenesis imperfecta 13 8 1 5 1990-01-01 P21281 VATB2_HUMAN ATP6V1B2 V-type proton ATPase subunit B, brain isoform 511 56.5 8 Apical cell membrane; Melanosome; Cytoplasm; Cytoplasmic vesicle 0 2 Zimmermann-Laband syndrome 2; Deafness, congenital, with onychodystrophy, autosomal dominant 8 1 5 1991-05-01 P30047 GFRP_HUMAN GCHFR GTP cyclohydrolase 1 feedback regulatory protein 84 9.7 15 Nucleus; Nucleus membrane; Cytoplasm 0 0 8 1 5 1993-04-01 P36404 ARL2_HUMAN ARL2 ADP-ribosylation factor-like protein 2 184 20.9 11 Mitochondrion intermembrane space; Cytoplasm; Nucleus 0 1 Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 8 1 5 1994-06-01 Q13185 CBX3_HUMAN CBX3 Chromobox protein homolog 3 183 20.8 7 Nucleus 0 0 8 1 5 1997-11-01 Q2M2I8 AAK1_HUMAN AAK1 AP2-associated protein kinase 1 961 103.9 2 2.7.11.1 Cell membrane; Membrane; Presynapse 0 0 8 1 5 2006-10-03 Q5JRX3 PREP_HUMAN PITRM1 Presequence protease, mitochondrial 1037 117.4 10 3.4.24.- Mitochondrion matrix 0 1 Spinocerebellar ataxia, autosomal recessive, 30 8 1 5 2006-09-19 Q70CQ3 UBP30_HUMAN USP30 Ubiquitin carboxyl-terminal hydrolase 30 517 58.5 12 3.4.19.12 Mitochondrion outer membrane 1 0 8 1 5 2004-09-13 Q86V24 PAQR2_HUMAN ADIPOR2 Adiponectin receptor protein 2 386 43.9 12 Cell membrane 7 0 8 1 5 2003-11-14 Q8IVT5 KSR1_HUMAN KSR1 Kinase suppressor of Ras 1 923 102.2 17 2.7.11.1 Cytoplasm; Membrane; Cell membrane; Cell projection; Endoplasmic reticulum membrane 0 0 8 1 5 2004-12-21 Q8IXI2 MIRO1_HUMAN RHOT1 Mitochondrial Rho GTPase 1 618 70.8 17 3.6.5.- Mitochondrion outer membrane 1 0 8 1 5 2006-06-13 Q8NCC3 PAG15_HUMAN PLA2G15 Lysosomal phospholipase A and acyltransferase 412 46.7 16 2.3.1.-, 3.1.1.32, 3.1.1.4 Lysosome; Secreted; Membrane 0 0 8 1 5 2004-03-01 Q96GM5 SMRD1_HUMAN SMARCD1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 515 58.2 12 Nucleus 0 1 Coffin-Siris syndrome 11 8 1 5 2003-01-17 Q96QE5 TEFM_HUMAN TEFM Transcription elongation factor, mitochondrial 360 41.7 17 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 58 8 1 5 2008-07-22 Q96QU1 PCD15_HUMAN PCDH15 Protocadherin-15 1955 216.1 10 Cell membrane 1 3 Usher syndrome 1F; Usher syndrome 1D/F; Deafness, autosomal recessive, 23 8 1 5 2002-01-31 Q9BUZ4 TRAF4_HUMAN TRAF4 TNF receptor-associated factor 4 470 53.5 17 2.3.2.27 Cytoplasm; Nucleus; Cell junction; Cell membrane 0 0 8 1 5 2003-05-09 Q9H0M0 WWP1_HUMAN WWP1 NEDD4-like E3 ubiquitin-protein ligase WWP1 922 105.2 8 2.3.2.26 Cytoplasm; Cell membrane; Nucleus; Cell junction 0 0 8 1 5 2003-06-20 Q9H221 ABCG8_HUMAN ABCG8 ATP-binding cassette sub-family G member 8 673 75.7 2 7.6.2.- Cell membrane; Apical cell membrane 6 2 Gallbladder disease 4; Sitosterolemia 1 8 1 5 2001-12-05 Q9H222 ABCG5_HUMAN ABCG5 ATP-binding cassette sub-family G member 5 651 72.5 2 7.6.2.- Cell membrane; Apical cell membrane 6 1 Sitosterolemia 2 8 1 5 2001-12-05 Q9H4I9 EMRE_HUMAN SMDT1 Essential MCU regulator, mitochondrial 107 11.4 22 Mitochondrion inner membrane 1 0 8 1 5 2007-07-24 Q9HC62 SENP2_HUMAN SENP2 Sentrin-specific protease 2 589 67.9 3 3.4.22.- Nucleus; Nucleus membrane; Cytoplasm 0 0 8 1 5 2002-11-28 Q9NWY4 HPF1_HUMAN HPF1 Histone PARylation factor 1 346 39.4 4 Chromosome; Nucleus 0 0 8 1 5 2007-07-10 Q9UI12 VATH_HUMAN ATP6V1H V-type proton ATPase subunit H 483 55.9 8 Cytoplasmic vesicle 0 0 8 1 5 2001-01-24 Q9ULU4 ZMYD8_HUMAN ZMYND8 MYND-type zinc finger-containing chromatin reader ZMYND8 1186 131.7 20 Nucleus; Chromosome; Cytoplasm 0 0 8 1 5 2002-11-25 Q9UM54 MYO6_HUMAN MYO6 Unconventional myosin-VI 1294 149.7 6 Golgi apparatus; Nucleus; Cytoplasm; Membrane; Cytoplasmic vesicle; Cell projection; Endosome 0 3 Deafness, autosomal dominant, 22; Deafness, autosomal recessive, 37; Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy 8 1 5 2001-04-27 O00222 GRM8_HUMAN GRM8 Metabotropic glutamate receptor 8 908 101.7 7 Cell membrane 7 0 8 1 5 1997-11-01 O00401 WASL_HUMAN WASL Actin nucleation-promoting factor WASL 505 54.8 7 Cytoplasm; Nucleus 0 0 8 1 5 2001-04-27 O00443 P3C2A_HUMAN PIK3C2A Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha 1686 190.7 11 2.7.1.137, 2.7.1.153, 2.7.1.154 Cell membrane; Cytoplasmic vesicle; Nucleus; Cytoplasm; Golgi apparatus 0 1 Oculoskeletodental syndrome 8 1 5 2005-08-30 O14493 CLD4_HUMAN CLDN4 Claudin-4 209 22.1 7 Cell junction; Cell membrane 4 0 8 1 5 2000-05-30 O14944 EREG_HUMAN EREG Proepiregulin 169 19 4 Secreted 1 0 8 1 5 2000-05-30 O43148 MCES_HUMAN RNMT mRNA cap guanine-N(7) methyltransferase 476 54.8 18 2.1.1.56 Nucleus 0 0 8 1 5 2006-09-05 O43257 ZNHI1_HUMAN ZNHIT1 Zinc finger HIT domain-containing protein 1 154 17.5 7 Nucleus 0 0 8 1 5 2004-04-13 O75306 NDUS2_HUMAN NDUFS2 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial 463 52.5 1 7.1.1.2 Mitochondrion inner membrane 0 2 Mitochondrial complex I deficiency, nuclear type 6; Leber-like hereditary optic neuropathy, autosomal recessive 2 8 1 5 1999-07-15 O95402 MED26_HUMAN MED26 Mediator of RNA polymerase II transcription subunit 26 600 65.4 19 Nucleus 0 0 8 1 5 2003-02-28 P02818 OSTCN_HUMAN BGLAP Osteocalcin 100 11 1 Secreted 0 0 8 1 5 1986-07-21 P05187 PPB1_HUMAN ALPP Alkaline phosphatase, placental type 535 58 2 3.1.3.1 Cell membrane 1 0 8 1 5 1987-08-13 P05771 KPCB_HUMAN PRKCB Protein kinase C beta type 671 76.9 16 2.7.11.13 Cytoplasm; Nucleus; Membrane 0 0 8 1 5 1987-08-13 P06733 ENOA_HUMAN ENO1 Alpha-enolase 434 47.2 1 4.2.1.11 Cytoplasm; Cell membrane 0 0 8 1 5 1988-01-01 P07306 ASGR1_HUMAN ASGR1 Asialoglycoprotein receptor 1 291 33.2 17 Cell membrane 1 0 8 1 5 1988-04-01 P07358 CO8B_HUMAN C8B Complement component C8 beta chain 591 66.9 1 Secreted; Target cell membrane 4 1 Complement component 8 deficiency, 2 8 1 5 1988-04-01 P08567 PLEK_HUMAN PLEK Pleckstrin 350 40.1 2 0 0 8 1 5 1988-08-01 P09341 GROA_HUMAN CXCL1 Growth-regulated alpha protein 107 11.3 4 Secreted 0 0 8 1 5 1989-07-01 P09619 PGFRB_HUMAN PDGFRB Platelet-derived growth factor receptor beta 1106 124 5 2.7.10.1 Cell membrane; Cytoplasmic vesicle; Lysosome lumen 1 8 Myeloproliferative disorder chronic with eosinophilia; Leukemia, acute myelogenous; Leukemia, juvenile myelomonocytic; Basal ganglia calcification, idiopathic, 4; Myofibromatosis, infantile 1; Kosaki overgrowth syndrome; Premature aging syndrome, Penttinen type; Ocular pterygium-digital keloid dysplasia syndrome 8 1 5 1989-07-01 P13693 TCTP_HUMAN TPT1 Translationally-controlled tumor protein 172 19.6 13 Cytoplasm 0 0 8 1 5 1990-01-01 P13861 KAP2_HUMAN PRKAR2A cAMP-dependent protein kinase type II-alpha regulatory subunit 404 45.5 3 Cytoplasm; Cell membrane 0 0 8 1 5 1990-01-01 P16885 PLCG2_HUMAN PLCG2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 1265 147.9 16 3.1.4.11 Membrane raft 0 2 Familial cold autoinflammatory syndrome 3; Autoinflammation, antibody deficiency, and immune dysregulation 8 1 5 1990-08-01 P18577 RHCE_HUMAN RHCE Blood group Rh(CE) polypeptide 417 45.5 1 Membrane 11 1 Rh-null, amorph type 8 1 5 1990-11-01 P23284 PPIB_HUMAN PPIB Peptidyl-prolyl cis-trans isomerase B 216 23.7 15 5.2.1.8 Virion 0 1 Osteogenesis imperfecta 9 8 1 5 1991-11-01 P27361 MK03_HUMAN MAPK3 Mitogen-activated protein kinase 3 379 43.1 16 2.7.11.24 Cytoplasm; Nucleus; Membrane; Cell junction 0 0 8 1 5 1992-08-01 P28799 GRN_HUMAN GRN Progranulin 593 63.5 17 Secreted; Lysosome 0 2 Frontotemporal dementia 2; Ceroid lipofuscinosis, neuronal, 11 8 1 5 1992-12-01 P29965 CD40L_HUMAN CD40LG CD40 ligand 261 29.3 X Cell membrane; Cell surface 1 1 Immunodeficiency with hyper-IgM, type 1 8 1 5 1993-04-01 P31151 S10A7_HUMAN S100A7 Protein S100-A7 101 11.5 1 Cytoplasm; Secreted 0 0 8 1 5 1993-07-01 P35568 IRS1_HUMAN IRS1 Insulin receptor substrate 1 1242 131.6 2 Cytoplasm; Nucleus 0 1 Type 2 diabetes mellitus 8 1 5 1994-06-01 P36543 VATE1_HUMAN ATP6V1E1 V-type proton ATPase subunit E 1 226 26.1 22 Apical cell membrane; Cytoplasmic vesicle; Lysosome membrane 0 1 Cutis laxa, autosomal recessive, 2C 8 1 5 1994-06-01 P38646 HSPA9_HUMAN HSPA9 Stress-70 protein, mitochondrial 679 73.7 5 3.6.4.10 Mitochondrion; Nucleus; Cytoplasm; Mitochondrion matrix 0 2 Anemia, sideroblastic, 4; Even-plus syndrome 8 1 5 1995-02-01 P41235 HNF4A_HUMAN HNF4A Hepatocyte nuclear factor 4-alpha 474 52.8 20 Nucleus 0 3 Maturity-onset diabetes of the young 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 8 1 5 1995-02-01 P43088 PF2R_HUMAN PTGFR Prostaglandin F2-alpha receptor 359 40.1 1 Cell membrane 7 0 8 1 5 1995-11-01 P45381 ACY2_HUMAN ASPA Aspartoacylase 313 35.7 17 3.5.1.15 Cytoplasm; Nucleus 0 1 Canavan disease 8 1 5 1995-11-01 P47869 GBRA2_HUMAN GABRA2 Gamma-aminobutyric acid receptor subunit alpha-2 451 51.3 4 Postsynaptic cell membrane; Cell membrane; Cytoplasmic vesicle membrane; Cell projection 4 1 Developmental and epileptic encephalopathy 78 8 1 5 1996-02-01 P52701 MSH6_HUMAN MSH6 DNA mismatch repair protein Msh6 1360 152.8 2 Nucleus; Chromosome 0 4 Lynch syndrome 5; Endometrial cancer; Mismatch repair cancer syndrome 3; Colorectal cancer 8 1 5 1996-10-01 P53597 SUCA_HUMAN SUCLG1 Succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial 346 36.3 2 6.2.1.4, 6.2.1.5 Mitochondrion 0 1 Mitochondrial DNA depletion syndrome 9 8 1 5 1996-10-01 P54219 VMAT1_HUMAN SLC18A1 Chromaffin granule amine transporter 525 56.3 8 Cytoplasmic vesicle 12 0 8 1 5 1996-10-01 P54762 EPHB1_HUMAN EPHB1 Ephrin type-B receptor 1 984 109.9 3 2.7.10.1 Cell membrane; Early endosome membrane; Cell projection 1 0 8 1 5 1996-10-01 Q00613 HSF1_HUMAN HSF1 Heat shock factor protein 1 529 57.3 8 Nucleus; Cytoplasm; Chromosome 0 0 8 1 5 1994-02-01 Q01094 E2F1_HUMAN E2F1 Transcription factor E2F1 437 46.9 20 Nucleus 0 0 8 1 5 1993-07-01 Q02410 APBA1_HUMAN APBA1 Amyloid-beta A4 precursor protein-binding family A member 1 837 92.9 9 Cytoplasm; Nucleus 0 0 8 1 5 1996-02-01 Q09428 ABCC8_HUMAN ABCC8 ATP-binding cassette sub-family C member 8 1581 177 11 Cell membrane 17 5 Leucine-induced hypoglycemia; Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonatal, 3; Transient neonatal diabetes mellitus 2; Maturity-onset diabetes of the young 12 8 1 5 1995-11-01 Q14833 GRM4_HUMAN GRM4 Metabotropic glutamate receptor 4 912 101.9 6 Cell membrane 7 0 8 1 5 1997-11-01 Q49A26 GLYR1_HUMAN GLYR1 Cytokine-like nuclear factor N-PAC 553 60.5 16 Nucleus; Chromosome 0 0 8 1 5 2007-12-04 Q5JTH9 RRP12_HUMAN RRP12 RRP12-like protein 1297 143.7 10 Nucleus; Nucleus membrane 1 1 Basal ganglia calcification, idiopathic, 11, autosomal recessive 8 1 5 2005-07-19 Q7Z7L1 SLN11_HUMAN SLFN11 Schlafen family member 11 901 102.8 17 3.1.-.- Nucleus; Chromosome 0 0 8 1 5 2007-04-03 Q8IU57 INLR1_HUMAN IFNLR1 Interferon lambda receptor 1 520 57.7 1 Membrane 1 0 8 1 5 2004-11-23 Q8IZK6 MCLN2_HUMAN MCOLN2 Mucolipin-2 566 65.9 1 Cell membrane; Late endosome membrane; Lysosome membrane; Recycling endosome membrane 6 0 8 1 5 2004-07-19 Q8N0S6 CENPL_HUMAN CENPL Centromere protein L 344 39 1 Nucleus; Chromosome 0 0 8 1 5 2006-07-25 Q8N5J2 MINY1_HUMAN MINDY1 Ubiquitin carboxyl-terminal hydrolase MINDY-1 469 51.8 1 3.4.19.12 0 0 8 1 5 2008-07-22 Q8TB36 GDAP1_HUMAN GDAP1 Ganglioside-induced differentiation-associated protein 1 358 41.3 8 Mitochondrion outer membrane; Cytoplasm 2 4 Charcot-Marie-Tooth disease, demyelinating, type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease, axonal, type 2K; Charcot-Marie-Tooth disease, recessive intermediate A 8 1 5 2003-11-07 Q8TDW0 LRC8C_HUMAN LRRC8C Volume-regulated anion channel subunit LRRC8C 803 92.5 1 Cell membrane; Endoplasmic reticulum membrane 4 1 Telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature 8 1 5 2006-02-07 Q8WUM0 NU133_HUMAN NUP133 Nuclear pore complex protein Nup133 1156 129 1 Nucleus; Chromosome 0 2 Nephrotic syndrome 18; Galloway-Mowat syndrome 8 8 1 5 2003-03-28 Q96HY7 DHTK1_HUMAN DHTKD1 2-oxoadipate dehydrogenase complex component E1 919 103.1 10 1.2.4.- Mitochondrion 0 2 Charcot-Marie-Tooth disease, axonal, type 2Q; Alpha-aminoadipic and alpha-ketoadipic aciduria 8 1 5 2007-10-23 Q96N11 INT15_HUMAN INTS15 Integrator complex subunit 15 449 50 7 Nucleus; Chromosome 0 0 8 1 5 2003-07-25 Q99549 MPP8_HUMAN MPHOSPH8 M-phase phosphoprotein 8 860 97.2 13 Nucleus; Chromosome 0 0 8 1 5 2000-05-30 Q99594 TEAD3_HUMAN TEAD3 Transcriptional enhancer factor TEF-5 435 48.7 6 Nucleus 0 0 8 1 5 1997-11-01 Q99623 PHB2_HUMAN PHB2 Prohibitin-2 299 33.3 12 Mitochondrion inner membrane; Cytoplasm; Nucleus; Cell membrane 0 0 8 1 5 2005-09-27 Q99873 ANM1_HUMAN PRMT1 Protein arginine N-methyltransferase 1 371 42.5 19 2.1.1.319 Nucleus; Cytoplasm; Lysosome membrane 0 0 8 1 5 1997-11-01 Q9H9S5 FKRP_HUMAN FKRP Ribitol 5-phosphate transferase FKRP 495 54.6 19 2.7.8.- Golgi apparatus membrane; Secreted; Cell membrane; Rough endoplasmic reticulum; Cytoplasm 1 3 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5; Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5; Muscular dystrophy-dystroglycanopathy limb-girdle C5 8 1 5 2004-04-13 Q9NP59 S40A1_HUMAN SLC40A1 Ferroportin 571 62.5 2 Cell membrane; Basolateral cell membrane 12 1 Hemochromatosis 4 8 1 5 2004-06-07 Q9NQT4 EXOS5_HUMAN EXOSC5 Exosome complex component RRP46 235 25.2 19 Nucleus; Cytoplasm 0 1 Cerebellar ataxia, brain abnormalities, and cardiac conduction defects 8 1 5 2001-06-01 Q9NQT5 EXOS3_HUMAN EXOSC3 Exosome complex component RRP40 275 29.6 9 Cytoplasm; Nucleus 0 1 Pontocerebellar hypoplasia 1B 8 1 5 2001-06-01 Q9NVH0 EXD2_HUMAN EXD2 Exonuclease 3'-5' domain-containing protein 2 621 70.4 14 3.1.11.1 Mitochondrion outer membrane; Mitochondrion matrix; Nucleus; Chromosome 1 0 8 1 5 2003-10-24 Q9NVI1 FANCI_HUMAN FANCI Fanconi anemia group I protein 1328 149.3 15 Nucleus; Cytoplasm 0 1 Fanconi anemia complementation group I 8 1 5 2006-09-05 Q9NZM3 ITSN2_HUMAN ITSN2 Intersectin-2 1697 193.5 2 Cytoplasm 0 0 8 1 5 2002-04-03 Q9UJ41 RABX5_HUMAN RABGEF1 Rab5 GDP/GTP exchange factor 491 56.9 7 Cytoplasm; Early endosome; Recycling endosome 0 0 8 1 5 2004-07-05 Q9Y221 NIP7_HUMAN NIP7 60S ribosome subunit biogenesis protein NIP7 homolog 180 20.5 16 Nucleus 0 0 8 1 5 2004-12-07 Q9Y2Q0 AT8A1_HUMAN ATP8A1 Phospholipid-transporting ATPase IA 1164 131.4 4 7.6.2.1 Cytoplasmic vesicle; Cytoplasmic granule; Cell membrane; Endoplasmic reticulum; Golgi apparatus 10 0 8 1 5 2000-05-30 Q9Y5N1 HRH3_HUMAN HRH3 Histamine H3 receptor 445 48.7 20 Cell membrane 7 0 8 1 5 2001-11-16 O00459 P85B_HUMAN PIK3R2 Phosphatidylinositol 3-kinase regulatory subunit beta 728 81.5 19 0 1 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 8 1 5 1998-12-15 O00512 BCL9_HUMAN BCL9 B-cell CLL/lymphoma 9 protein 1426 149.3 1 Nucleus 0 0 8 1 5 2002-09-19 O15264 MK13_HUMAN MAPK13 Mitogen-activated protein kinase 13 365 42.1 6 2.7.11.24 0 0 8 1 5 2000-05-30 O75582 KS6A5_HUMAN RPS6KA5 Ribosomal protein S6 kinase alpha-5 802 89.9 14 2.7.11.1 Nucleus; Cytoplasm 0 0 8 1 5 2003-10-24 P04114 APOB_HUMAN APOB Apolipoprotein B-100 4563 515.5 2 Cytoplasm; Secreted; Lipid droplet 0 2 Hypobetalipoproteinemia, familial, 1; Hypercholesterolemia, familial, 2 8 1 5 1986-11-01 P06748 NPM_HUMAN NPM1 Nucleophosmin 294 32.6 5 Nucleus; Cytoplasm 0 0 8 1 5 1988-01-01 P07686 HEXB_HUMAN HEXB Beta-hexosaminidase subunit beta 556 63.1 5 3.2.1.52 Lysosome; Cytoplasmic vesicle 0 1 GM2-gangliosidosis 2 8 1 5 1988-04-01 P09681 GIP_HUMAN GIP Gastric inhibitory polypeptide 153 17.1 17 Secreted 0 0 8 1 5 1989-07-01 P10643 CO7_HUMAN C7 Complement component C7 843 93.5 5 Secreted; Target cell membrane 0 1 Complement component 7 deficiency 8 1 5 1989-07-01 P13236 CCL4_HUMAN CCL4 C-C motif chemokine 4 92 10.2 17 Secreted 0 0 8 1 5 1990-01-01 P14859 PO2F1_HUMAN POU2F1 POU domain, class 2, transcription factor 1 743 76.5 1 Nucleus 0 0 8 1 5 1990-04-01 P15336 ATF2_HUMAN ATF2 Cyclic AMP-dependent transcription factor ATF-2 505 54.5 2 Nucleus; Cytoplasm; Mitochondrion outer membrane 0 0 8 1 5 1990-04-01 P16278 BGAL_HUMAN GLB1 Beta-galactosidase 677 76.1 3 3.2.1.23 Lysosome 0 4 GM1-gangliosidosis 1; GM1-gangliosidosis 2; GM1-gangliosidosis 3; Mucopolysaccharidosis 4B 8 1 5 1990-08-01 P20711 DDC_HUMAN DDC Aromatic-L-amino-acid decarboxylase 480 53.9 7 4.1.1.28 0 1 Aromatic L-amino-acid decarboxylase deficiency 8 1 5 1991-02-01 P20809 IL11_HUMAN IL11 Interleukin-11 199 21.4 19 Secreted 0 0 8 1 5 1991-02-01 P30101 PDIA3_HUMAN PDIA3 Protein disulfide-isomerase A3 505 56.8 15 5.3.4.1 Endoplasmic reticulum; Endoplasmic reticulum lumen; Melanosome 0 0 8 1 5 1993-04-01 P34896 GLYC_HUMAN SHMT1 Serine hydroxymethyltransferase, cytosolic 483 53.1 17 2.1.2.1 Cytoplasm; Nucleus 0 0 8 1 5 1994-02-01 P35579 MYH9_HUMAN MYH9 Myosin-9 1960 226.5 22 Cytoplasm; Cytoplasmic vesicle; Cell membrane 0 2 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness, autosomal dominant, 17 8 1 5 1994-06-01 P43354 NR4A2_HUMAN NR4A2 Nuclear receptor subfamily 4 group A member 2 598 66.6 2 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 8 1 5 1995-11-01 P51788 CLCN2_HUMAN CLCN2 Chloride channel protein 2 898 98.5 3 Cell membrane; Basolateral cell membrane; Cell projection 10 5 Epilepsy, idiopathic generalized 11; Juvenile absence epilepsy 2; Juvenile myoclonic epilepsy 8; Leukoencephalopathy with ataxia; Hyperaldosteronism, familial, 2 8 1 5 1996-10-01 P54278 PMS2_HUMAN PMS2 Mismatch repair endonuclease PMS2 862 95.8 7 3.1.-.- Nucleus 0 2 Lynch syndrome 4; Mismatch repair cancer syndrome 4 8 1 5 1996-10-01 P54577 SYYC_HUMAN YARS1 Tyrosine--tRNA ligase, cytoplasmic 528 59.1 1 6.1.1.1 Cytoplasm; Nucleus 0 2 Charcot-Marie-Tooth disease, dominant intermediate C; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 8 1 5 1996-10-01 P57789 KCNKA_HUMAN KCNK10 Potassium channel subfamily K member 10 538 59.8 14 Cell membrane 4 0 8 1 5 2001-04-27 P78363 ABCA4_HUMAN ABCA4 Retinal-specific phospholipid-transporting ATPase ABCA4 2273 255.9 1 7.6.2.1 Membrane; Endoplasmic reticulum; Cytoplasmic vesicle; Cell projection 12 5 Stargardt disease 1; Fundus flavimaculatus; Macular degeneration, age-related, 2; Cone-rod dystrophy 3; Retinitis pigmentosa 19 8 1 5 2000-05-30 Q04759 KPCT_HUMAN PRKCQ Protein kinase C theta type 706 81.9 10 2.7.11.13 Cytoplasm; Cell membrane 0 0 8 1 5 1993-10-01 Q04828 AK1C1_HUMAN AKR1C1 Aldo-keto reductase family 1 member C1 323 36.8 10 1.1.1.-, 1.1.1.112, 1.1.1.209, 1.1.1.210, 1.1.1.357, 1.1.1.51, 1.1.1.53, 1.1.1.62, 1.3.1.20 Cytoplasm 0 0 8 1 5 1993-10-01 Q06265 EXOS9_HUMAN EXOSC9 Exosome complex component RRP45 439 48.9 4 Cytoplasm; Nucleus 0 1 Pontocerebellar hypoplasia 1D 8 1 5 2001-06-01 Q13219 PAPP1_HUMAN PAPPA Pappalysin-1 1627 181 9 3.4.24.79 Secreted 0 0 8 1 5 2001-09-26 Q13619 CUL4A_HUMAN CUL4A Cullin-4A 759 87.7 13 0 0 8 1 5 1997-11-01 Q13868 EXOS2_HUMAN EXOSC2 Exosome complex component RRP4 293 32.8 9 Cytoplasm; Nucleus 0 1 Short stature, hearing loss, retinitis pigmentosa, and distinctive facies 8 1 5 2001-04-27 Q16654 PDK4_HUMAN PDK4 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial 411 46.5 7 2.7.11.2 Mitochondrion matrix 0 0 8 1 5 1998-07-15 Q5JVF3 PCID2_HUMAN PCID2 PCI domain-containing protein 2 399 46 13 Cytoplasm; Nucleus 0 0 8 1 5 2006-01-10 Q5VYS8 TUT7_HUMAN TUT7 Terminal uridylyltransferase 7 1495 171.2 9 2.7.7.52 Cytoplasm 0 0 8 1 5 2005-06-07 Q6NZY4 ZCHC8_HUMAN ZCCHC8 Zinc finger CCHC domain-containing protein 8 707 78.6 12 Nucleus 0 1 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 5 8 1 5 2005-05-10 Q7LC44 ARC_HUMAN ARC Activity-regulated cytoskeleton-associated protein 396 45.3 8 Extracellular vesicle membrane; Postsynaptic cell membrane; Synapse; Postsynaptic density; Early endosome membrane; Cell projection; Cytoplasm; Cytoplasmic vesicle 0 0 8 1 5 2007-01-23 Q7Z3C6 ATG9A_HUMAN ATG9A Autophagy-related protein 9A 839 94.4 2 Preautophagosomal structure membrane; Cytoplasmic vesicle; Golgi apparatus; Late endosome membrane; Recycling endosome membrane; Endoplasmic reticulum membrane; Mitochondrion membrane 4 0 8 1 5 2005-04-12 Q8N201 INT1_HUMAN INTS1 Integrator complex subunit 1 2190 244.3 7 Nucleus; Nucleus membrane 1 1 Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 8 1 5 2006-05-16 Q8N539 FBCD1_HUMAN FIBCD1 Fibrinogen C domain-containing protein 1 461 50.7 9 Membrane 1 0 8 1 5 2007-07-10 Q969G3 SMCE1_HUMAN SMARCE1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 411 46.6 17 Nucleus 0 2 Meningioma; Coffin-Siris syndrome 5 8 1 5 2004-10-25 Q96LI5 CNO6L_HUMAN CNOT6L CCR4-NOT transcription complex subunit 6-like 555 63 4 3.1.13.4 Cytoplasm; Nucleus 0 0 8 1 5 2008-01-15 Q9BSB4 ATGA1_HUMAN ATG101 Autophagy-related protein 101 218 25 12 Cytoplasm; Preautophagosomal structure 0 0 8 1 5 2007-07-10 Q9BSQ5 CCM2_HUMAN CCM2 Cerebral cavernous malformations 2 protein 444 48.8 7 Cytoplasm 0 1 Cerebral cavernous malformations 2 8 1 5 2005-10-11 Q9H257 CARD9_HUMAN CARD9 Caspase recruitment domain-containing protein 9 536 62.2 9 Cytoplasm 0 1 Immunodeficiency 103, susceptibility to fungal infections 8 1 5 2002-01-31 Q9H668 STN1_HUMAN STN1 CST complex subunit STN1 368 42.1 10 Nucleus; Chromosome 0 1 Cerebroretinal microangiopathy with calcifications and cysts 2 8 1 5 2005-04-26 Q9HAU4 SMUF2_HUMAN SMURF2 E3 ubiquitin-protein ligase SMURF2 748 86.2 17 2.3.2.26 Nucleus; Cytoplasm; Cell membrane; Membrane raft 0 0 8 1 5 2001-12-13 Q9NS91 RAD18_HUMAN RAD18 E3 ubiquitin-protein ligase RAD18 495 56.2 3 2.3.2.27 Nucleus; Cytoplasm 0 0 8 1 5 2002-06-06 Q9NZU7 CABP1_HUMAN CABP1 Calcium-binding protein 1 370 39.8 12 Cytoplasm; Cell membrane; Golgi apparatus; Postsynaptic density 0 0 8 1 5 2001-04-27 Q9P2K8 E2AK4_HUMAN EIF2AK4 eIF-2-alpha kinase GCN2 1649 186.9 15 2.7.11.1 Cytoplasm 0 1 Pulmonary venoocclusive disease 2, autosomal recessive 8 1 5 2005-03-15 Q9UHW9 S12A6_HUMAN SLC12A6 Solute carrier family 12 member 6 1150 127.6 15 Cell membrane; Basolateral cell membrane 12 2 Agenesis of the corpus callosum, with peripheral neuropathy; Charcot-Marie-Tooth disease, axonal, type 2II 8 1 5 2002-12-13 Q9UP95 S12A4_HUMAN SLC12A4 Solute carrier family 12 member 4 1085 120.7 16 Cell membrane 12 0 8 1 5 2002-12-13 Q9Y3B2 EXOS1_HUMAN EXOSC1 Exosome complex component CSL4 195 21.5 10 Nucleus; Cytoplasm 0 1 Pontocerebellar hypoplasia 1F 8 1 5 2001-06-01 Q9Y3Q4 HCN4_HUMAN HCN4 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 1203 129 15 Cell membrane 6 3 Sick sinus syndrome 2; Brugada syndrome 8; Epilepsy, idiopathic generalized 18 8 1 5 2003-02-28 Q9Y572 RIPK3_HUMAN RIPK3 Receptor-interacting serine/threonine-protein kinase 3 518 56.9 14 2.7.11.1 Cytoplasm; Nucleus 0 0 8 1 5 2002-05-02 Q9Y5Y0 FLVC1_HUMAN FLVCR1 Choline/ethanolamine transporter FLVCR1 555 59.9 1 Cell membrane 12 2 Retinopathy-sensory neuropathy syndrome; Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia 8 1 5 2004-04-13 Q9Y6N5 SQOR_HUMAN SQOR Sulfide:quinone oxidoreductase, mitochondrial 450 50 15 1.8.5.8 Mitochondrion 0 1 Sulfide:quinone oxidoreductase deficiency 8 1 5 2002-12-13 O14558 HSPB6_HUMAN HSPB6 Heat shock protein beta-6 160 17.1 19 Cytoplasm; Nucleus; Secreted 0 0 8 1 5 1999-07-15 O95407 TNF6B_HUMAN TNFRSF6B Tumor necrosis factor receptor superfamily member 6B 300 32.7 20 Secreted 0 0 8 1 5 2002-05-27 P01213 PDYN_HUMAN PDYN Proenkephalin-B 254 28.4 20 Secreted 0 1 Spinocerebellar ataxia 23 8 1 5 1986-07-21 P05387 RLA2_HUMAN RPLP2 Large ribosomal subunit protein P2 115 11.7 11 0 0 8 1 5 1988-11-01 P16871 IL7RA_HUMAN IL7R Interleukin-7 receptor subunit alpha 459 51.6 5 Cell membrane 1 2 Immunodeficiency 104, severe combined; Multiple sclerosis 3 8 1 5 1990-08-01 P17900 SAP3_HUMAN GM2A Ganglioside GM2 activator 193 20.8 5 Lysosome 0 1 GM2-gangliosidosis AB 8 1 5 1990-11-01 P22392 NDKB_HUMAN NME2 Nucleoside diphosphate kinase B 152 17.3 17 2.7.4.6 Cytoplasm; Nucleus; Cell projection 0 0 8 1 5 1991-08-01 P29074 PTN4_HUMAN PTPN4 Tyrosine-protein phosphatase non-receptor type 4 926 105.9 2 3.1.3.48 Cell membrane; Cytoplasm 0 0 8 1 5 1992-12-01 P35318 ADML_HUMAN ADM Pro-adrenomedullin 185 20.4 11 Secreted 0 0 8 1 5 1994-02-01 P38606 VATA_HUMAN ATP6V1A V-type proton ATPase catalytic subunit A 617 68.3 3 7.1.2.2 Cytoplasm; Cytoplasmic vesicle; Lysosome membrane 0 2 Cutis laxa, autosomal recessive, 2D; Epileptic encephalopathy, infantile or early childhood, 3 8 1 5 1994-10-01 P57081 WDR4_HUMAN WDR4 tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 412 45.5 21 Nucleus; Chromosome 0 2 Galloway-Mowat syndrome 6; Microcephaly, growth deficiency, seizures, and brain malformations 8 1 5 2000-12-01 Q01826 SATB1_HUMAN SATB1 DNA-binding protein SATB1 763 86 3 Nucleus matrix; Nucleus 0 2 Den Hoed-de Boer-Voisin syndrome; Developmental delay with dysmorphic facies and dental anomalies 8 1 5 1993-10-01 Q13258 PD2R_HUMAN PTGDR Prostaglandin D2 receptor 359 40.3 14 Cell membrane 7 1 Asthma-related traits 1 8 1 5 1997-11-01 Q14118 DAG1_HUMAN DAG1 Dystroglycan 1 895 97.4 3 Secreted; Synapse 1 2 Muscular dystrophy-dystroglycanopathy limb-girdle C9; Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A9 8 1 5 1997-11-01 Q14623 IHH_HUMAN IHH Indian hedgehog protein 411 45.3 2 3.1.-.- Endoplasmic reticulum membrane; Golgi apparatus membrane 0 2 Brachydactyly A1; Acrocapitofemoral dysplasia 8 1 5 1999-07-15 Q15025 TNIP1_HUMAN TNIP1 TNFAIP3-interacting protein 1 636 71.9 5 Cytoplasm; Nucleus 0 0 8 1 5 2002-01-23 Q16666 IF16_HUMAN IFI16 Gamma-interferon-inducible protein 16 785 88.3 1 Nucleus; Cytoplasm 0 0 8 1 5 1997-11-01 Q5RKV6 EXOS6_HUMAN EXOSC6 Exosome complex component MTR3 272 28.2 16 Cytoplasm; Nucleus 0 0 8 1 5 2007-05-15 Q6QNK2 AGRD1_HUMAN ADGRD1 Adhesion G protein-coupled receptor D1 874 96.5 12 Cell membrane 7 0 8 1 5 2005-02-15 Q6UXX9 RSPO2_HUMAN RSPO2 R-spondin-2 243 28.3 8 Secreted 0 2 Tetraamelia syndrome 2; Humerofemoral hypoplasia with radiotibial ray deficiency 8 1 5 2006-05-16 Q8WYA6 CTBL1_HUMAN CTNNBL1 Beta-catenin-like protein 1 563 65.2 20 Nucleus 0 1 Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias 8 1 5 2003-02-28 Q92879 CELF1_HUMAN CELF1 CUGBP Elav-like family member 1 486 52.1 11 Nucleus; Cytoplasm 0 0 8 1 5 2001-10-18 Q96ES7 SGF29_HUMAN SGF29 SAGA-associated factor 29 293 33.2 16 Nucleus 0 0 8 1 5 2007-02-06 Q96HY6 DDRGK_HUMAN DDRGK1 DDRGK domain-containing protein 1 314 35.6 20 Endoplasmic reticulum membrane 1 1 Spondyloepimetaphyseal dysplasia, Shohat type 8 1 5 2003-09-26 Q99551 MTEF1_HUMAN MTERF1 Transcription termination factor 1, mitochondrial 399 45.8 7 Mitochondrion 0 0 8 1 5 2000-12-01 Q99558 M3K14_HUMAN MAP3K14 Mitogen-activated protein kinase kinase kinase 14 947 104 17 2.7.11.25 Cytoplasm 0 1 Immunodeficiency 112 8 1 5 2001-06-01 Q9BVL2 NUP58_HUMAN NUP58 Nucleoporin p58/p45 599 60.9 13 Nucleus; Nucleus membrane 0 0 8 1 5 2003-10-10 Q9BYN0 SRXN1_HUMAN SRXN1 Sulfiredoxin-1 137 14.3 20 1.8.98.2 Cytoplasm 0 0 8 1 5 2003-04-30 Q9BZP6 CHIA_HUMAN CHIA Acidic mammalian chitinase 476 52.3 1 3.2.1.14 Secreted 0 0 8 1 5 2003-10-24 Q9C086 IN80B_HUMAN INO80B INO80 complex subunit B 356 38.6 2 Nucleus 0 0 8 1 5 2005-09-27 Q9H0H0 INT2_HUMAN INTS2 Integrator complex subunit 2 1196 133.4 17 Nucleus; Nucleus membrane; Cytoplasm 1 0 8 1 5 2006-05-16 Q9H2K0 IF3M_HUMAN MTIF3 Translation initiation factor IF-3, mitochondrial 278 31.7 13 Mitochondrion 0 0 8 1 5 2007-03-06 Q9H3H5 GPT_HUMAN DPAGT1 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 408 46.1 11 2.7.8.15 Endoplasmic reticulum membrane 10 2 Congenital disorder of glycosylation 1J; Myasthenic syndrome, congenital, 13 8 1 5 2001-08-29 Q9NPD3 EXOS4_HUMAN EXOSC4 Exosome complex component RRP41 245 26.4 8 Cytoplasm; Nucleus 0 0 8 1 5 2001-06-01 Q9NRW4 DUS22_HUMAN DUSP22 Dual specificity protein phosphatase 22 184 20.9 6 3.1.3.16, 3.1.3.48 Cytoplasm 0 0 8 1 5 2006-06-27 Q9NYL2 M3K20_HUMAN MAP3K20 Mitogen-activated protein kinase kinase kinase 20 800 91.2 2 2.7.11.25 Cytoplasm; Nucleus 0 2 Split-foot malformation with mesoaxial polydactyly; Myopathy, centronuclear, 6, with fiber-type disproportion 8 1 5 2005-07-05 Q9NZD4 AHSP_HUMAN AHSP Alpha-hemoglobin-stabilizing protein 102 11.8 16 Cytoplasm 0 0 8 1 5 2002-10-10 Q9NZM1 MYOF_HUMAN MYOF Myoferlin 2061 234.7 10 Cell membrane; Nucleus membrane; Cytoplasmic vesicle membrane; Late endosome membrane 1 1 Angioedema, hereditary, 7 8 1 5 2002-01-23 Q9P0J0 NDUAD_HUMAN NDUFA13 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 144 16.7 19 Mitochondrion inner membrane; Nucleus 1 2 Hurthle cell thyroid carcinoma; Mitochondrial complex I deficiency, nuclear type 28 8 1 5 2002-03-27 Q9UKG1 DP13A_HUMAN APPL1 DCC-interacting protein 13-alpha 709 79.7 3 Early endosome membrane; Nucleus; Cytoplasm; Endosome; Cell projection; Cytoplasmic vesicle 0 1 Maturity-onset diabetes of the young 14 8 1 5 2005-03-15 Q9Y231 FUT9_HUMAN FUT9 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 359 42.1 6 2.4.1.152 Golgi apparatus; Golgi apparatus membrane 1 0 8 1 5 2004-11-09 Q9Y5K8 VATD_HUMAN ATP6V1D V-type proton ATPase subunit D 247 28.3 14 Membrane; Cytoplasmic vesicle; Lysosome membrane; Cytoplasm; Cell projection 0 0 8 1 5 2000-12-01 P59540 T2R46_HUMAN TAS2R46 Taste receptor type 2 member 46 309 35.5 12 Membrane; Cell projection 7 0 8 1 4 2003-04-11 Q8N8U2 CDYL2_HUMAN CDYL2 Chromodomain Y-like protein 2 506 56.5 16 Nucleus 0 0 8 1 4 2003-09-19 Q9BYD6 RM01_HUMAN MRPL1 Large ribosomal subunit protein uL1m 325 36.9 4 Mitochondrion 0 0 8 1 4 2006-10-17 A0A075B6T6 TVAL2_HUMAN TRAV12-2 T cell receptor alpha variable 12-2 113 12.8 14 Cell membrane 0 0 8 1 3 2018-02-28 Q99603 TRGV9_HUMAN TRGV9 T cell receptor gamma variable 9 122 13.4 7 Cell membrane 0 0 8 1 3 2019-01-16 O14497 ARI1A_HUMAN ARID1A AT-rich interactive domain-containing protein 1A 2285 242 1 Nucleus 0 1 Coffin-Siris syndrome 2 7 1 5 2000-12-01 O14618 CCS_HUMAN CCS Copper chaperone for superoxide dismutase 274 29 11 Cytoplasm 0 0 7 1 5 2002-01-31 O15446 RPA34_HUMAN POLR1G DNA-directed RNA polymerase I subunit RPA34 510 55 19 Nucleus; Chromosome 0 0 7 1 5 2006-03-21 O43181 NDUS4_HUMAN NDUFS4 NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial 175 20.1 5 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 1 7 1 5 1998-07-15 O60667 FCMR_HUMAN FCMR Immunoglobulin mu Fc receptor 390 43.1 1 Cell membrane; Early endosome membrane; Golgi apparatus; Lysosome membrane 1 0 7 1 5 2007-04-17 O60921 HUS1_HUMAN HUS1 Checkpoint protein HUS1 280 31.7 7 Nucleus; Cytoplasm 0 0 7 1 5 2006-03-07 O60930 RNH1_HUMAN RNASEH1 Ribonuclease H1 286 32.1 2 3.1.26.4 Cytoplasm 0 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 7 1 5 2001-04-27 O75334 LIPA2_HUMAN PPFIA2 Liprin-alpha-2 1257 143.3 12 Cytoplasm; Cell surface; Cell projection 0 0 7 1 5 2004-02-16 O75438 NDUB1_HUMAN NDUFB1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 58 7 14 Mitochondrion inner membrane 1 0 7 1 5 1999-07-15 O95139 NDUB6_HUMAN NDUFB6 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 128 15.5 9 Mitochondrion inner membrane 1 0 7 1 5 1999-07-15 O95169 NDUB8_HUMAN NDUFB8 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial 186 21.8 10 Mitochondrion inner membrane 1 1 Mitochondrial complex I deficiency, nuclear type 32 7 1 5 1999-07-15 O95298 NDUC2_HUMAN NDUFC2 NADH dehydrogenase [ubiquinone] 1 subunit C2 119 14.2 11 Mitochondrion inner membrane 1 1 Mitochondrial complex I deficiency, nuclear type 36 7 1 5 1999-07-15 O95497 VNN1_HUMAN VNN1 Pantetheinase 513 57 6 3.5.1.92 Cell membrane 0 0 7 1 5 2001-04-27 O96000 NDUBA_HUMAN NDUFB10 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 172 20.8 16 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 35 7 1 5 1999-07-15 P01764 HV323_HUMAN IGHV3-23 Immunoglobulin heavy variable 3-23 117 12.6 14 Secreted; Cell membrane 0 0 7 1 5 1986-07-21 P03915 NU5M_HUMAN MT-ND5 NADH-ubiquinone oxidoreductase chain 5 603 67 MT 7.1.1.2 Mitochondrion inner membrane 15 3 Leber hereditary optic neuropathy; Leigh syndrome; Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome 7 1 5 1986-07-21 P04180 LCAT_HUMAN LCAT Phosphatidylcholine-sterol acyltransferase 440 49.6 16 2.3.1.43 Secreted 0 2 Lecithin-cholesterol acyltransferase deficiency; Fish-eye disease 7 1 5 1987-03-20 P09758 TACD2_HUMAN TACSTD2 Tumor-associated calcium signal transducer 2 323 35.7 1 Membrane 1 1 Corneal dystrophy, gelatinous drop-like 7 1 5 1989-07-01 P13591 NCAM1_HUMAN NCAM1 Neural cell adhesion molecule 1 858 94.6 11 Cell membrane 1 0 7 1 5 1990-01-01 P15529 MCP_HUMAN CD46 Membrane cofactor protein 392 43.7 1 Cytoplasmic vesicle 1 1 Hemolytic uremic syndrome, atypical, 2 7 1 5 1990-04-01 P17050 NAGAB_HUMAN NAGA Alpha-N-acetylgalactosaminidase 411 46.6 22 3.2.1.49 Lysosome 0 2 Schindler disease; Kanzaki disease 7 1 5 1990-08-01 P17812 PYRG1_HUMAN CTPS1 CTP synthase 1 591 66.7 1 6.3.4.2 Cytoplasm; Nucleus; Chromosome 0 1 Immunodeficiency 24 7 1 5 1990-08-01 P19099 C11B2_HUMAN CYP11B2 Cytochrome P450 11B2, mitochondrial 503 57.6 8 Mitochondrion inner membrane 0 2 Corticosterone methyloxidase 1 deficiency; Corticosterone methyloxidase 2 deficiency 7 1 5 1990-11-01 P19835 CEL_HUMAN CEL Bile salt-activated lipase 753 79.3 9 3.1.1.13, 3.1.1.3, 3.1.1.6 Secreted 0 1 Maturity-onset diabetes of the young 8 with exocrine dysfunction 7 1 5 1991-02-01 P20700 LMNB1_HUMAN LMNB1 Lamin-B1 586 66.4 5 Nucleus lamina 0 3 Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical; Leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical; Microcephaly 26, primary, autosomal dominant 7 1 5 1991-02-01 P25445 TNR6_HUMAN FAS Tumor necrosis factor receptor superfamily member 6 335 37.7 10 Cell membrane; Membrane raft 1 1 Autoimmune lymphoproliferative syndrome 1A 7 1 5 1992-05-01 P30838 AL3A1_HUMAN ALDH3A1 Aldehyde dehydrogenase, dimeric NADP-preferring 453 50.4 17 1.2.1.5 Cytoplasm 0 0 7 1 5 1993-07-01 P36021 MOT8_HUMAN SLC16A2 Monocarboxylate transporter 8 539 59.5 X Cell membrane; Apical cell membrane 12 1 Monocarboxylate transporter 8 deficiency 7 1 5 1994-06-01 P37023 ACVL1_HUMAN ACVRL1 Activin receptor type-1-like 503 56.1 12 2.7.11.30 Cell membrane 1 1 Telangiectasia, hereditary hemorrhagic, 2 7 1 5 1994-06-01 P41181 AQP2_HUMAN AQP2 Aquaporin-2 271 28.8 12 Apical cell membrane; Basolateral cell membrane; Cell membrane; Cytoplasmic vesicle membrane; Golgi apparatus 6 1 Diabetes insipidus, nephrogenic, 2, autosomal 7 1 5 1995-02-01 P48066 S6A11_HUMAN SLC6A11 Sodium- and chloride-dependent GABA transporter 3 632 70.6 3 Cell membrane 12 0 7 1 5 1996-02-01 P49458 SRP09_HUMAN SRP9 Signal recognition particle 9 kDa protein 86 10.1 1 Cytoplasm 0 0 7 1 5 1996-02-01 P49821 NDUV1_HUMAN NDUFV1 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial 464 50.8 11 7.1.1.2 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 4 7 1 5 1996-10-01 P51970 NDUA8_HUMAN NDUFA8 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 172 20.1 9 Mitochondrion inner membrane; Mitochondrion intermembrane space; Mitochondrion 0 1 Mitochondrial complex I deficiency, nuclear type 37 7 1 5 1996-10-01 P52597 HNRPF_HUMAN HNRNPF Heterogeneous nuclear ribonucleoprotein F 415 45.7 10 Nucleus 0 0 7 1 5 1996-10-01 P55263 ADK_HUMAN ADK Adenosine kinase 362 40.5 10 2.7.1.20 Cytoplasm 0 1 Hypermethioninemia due to adenosine kinase deficiency 7 1 5 1996-10-01 P61587 RND3_HUMAN RND3 Rho-related GTP-binding protein RhoE 244 27.4 2 3.6.5.2 Golgi apparatus membrane 0 0 7 1 5 2004-05-24 P78383 S35B1_HUMAN SLC35B1 Solute carrier family 35 member B1 322 35.8 17 Endoplasmic reticulum membrane 10 0 7 1 5 2005-11-22 P78504 JAG1_HUMAN JAG1 Protein jagged-1 1218 133.8 20 Membrane; Cell membrane 1 4 Alagille syndrome 1; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, type 2HH 7 1 5 2002-05-02 Q01064 PDE1B_HUMAN PDE1B Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B 536 61.4 12 3.1.4.17 Cytoplasm 0 0 7 1 5 1993-04-01 Q01813 PFKAP_HUMAN PFKP ATP-dependent 6-phosphofructokinase, platelet type 784 85.6 10 2.7.1.11 Cytoplasm 0 0 7 1 5 1993-07-01 Q04756 HGFA_HUMAN HGFAC Hepatocyte growth factor activator serine protease 655 70.7 4 3.4.21.- Secreted 0 0 7 1 5 1994-06-01 Q13133 NR1H3_HUMAN NR1H3 Oxysterols receptor LXR-alpha 447 50.4 11 Nucleus; Cytoplasm 0 0 7 1 5 2000-05-30 Q15027 ACAP1_HUMAN ACAP1 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 740 81.5 17 Recycling endosome membrane 0 0 7 1 5 1998-07-15 Q16572 VACHT_HUMAN SLC18A3 Vesicular acetylcholine transporter 532 56.9 10 Cytoplasmic vesicle 12 1 Myasthenic syndrome, congenital, 21, presynaptic 7 1 5 2003-09-19 Q16718 NDUA5_HUMAN NDUFA5 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 116 13.5 7 Mitochondrion inner membrane 0 0 7 1 5 1997-11-01 Q2NKJ3 CTC1_HUMAN CTC1 CST complex subunit CTC1 1217 134.6 17 Nucleus; Chromosome 0 1 Cerebroretinal microangiopathy with calcifications and cysts 1 7 1 5 2007-05-15 Q53GL7 PAR10_HUMAN PARP10 Protein mono-ADP-ribosyltransferase PARP10 1025 110 8 2.4.2.- Nucleus; Cytoplasm 0 0 7 1 5 2006-10-17 Q68E01 INT3_HUMAN INTS3 Integrator complex subunit 3 1043 118.1 1 Nucleus; Cytoplasm 0 0 7 1 5 2006-10-31 Q6PGP7 SKI3_HUMAN SKIC3 Superkiller complex protein 3 1564 175.5 5 Cytoplasm; Nucleus 0 1 Trichohepatoenteric syndrome 1 7 1 5 2006-10-03 Q86Y39 NDUAB_HUMAN NDUFA11 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11 141 14.9 19 Mitochondrion inner membrane 2 1 Mitochondrial complex I deficiency, nuclear type 14 7 1 5 2004-09-13 Q8IU85 KCC1D_HUMAN CAMK1D Calcium/calmodulin-dependent protein kinase type 1D 385 42.9 10 2.7.11.17 Cytoplasm; Nucleus 0 0 7 1 5 2004-12-07 Q8IXH6 T53I2_HUMAN TP53INP2 Tumor protein p53-inducible nuclear protein 2 220 24 20 Cytoplasm; Nucleus; Cytoplasmic vesicle 0 0 7 1 5 2003-07-11 Q8IYD8 FANCM_HUMAN FANCM Fanconi anemia group M protein 2048 232.2 14 3.6.4.13 Nucleus 0 2 Spermatogenic failure 28; Premature ovarian failure 15 7 1 5 2005-10-25 Q8IYV9 IZUM1_HUMAN IZUMO1 Izumo sperm-egg fusion protein 1 350 38.9 19 Cell membrane; Cytoplasmic vesicle 1 0 7 1 5 2006-01-10 Q8N448 LNX2_HUMAN LNX2 Ligand of Numb protein X 2 690 76 13 0 0 7 1 5 2003-02-28 Q8NEZ5 FBX22_HUMAN FBXO22 F-box only protein 22 403 44.5 15 Cytoplasm; Nucleus 0 1 Tayoun-Maawali syndrome 7 1 5 2003-05-09 Q8WWN8 ARAP3_HUMAN ARAP3 Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3 1544 169.8 5 Cytoplasm; Cell membrane; Cell projection 0 0 7 1 5 2005-08-16 Q92673 SORL_HUMAN SORL1 Sortilin-related receptor 2214 248.4 11 Golgi apparatus membrane; Golgi apparatus; Endosome membrane; Early endosome membrane; Recycling endosome membrane; Endoplasmic reticulum membrane; Endosome; Cell membrane; Cytoplasmic vesicle; Secreted 1 1 Alzheimer disease 7 1 5 2000-12-01 Q92888 ARHG1_HUMAN ARHGEF1 Rho guanine nucleotide exchange factor 1 912 102.4 19 Cytoplasm; Membrane 0 1 Immunodeficiency 62 7 1 5 2003-08-29 Q96QB1 RHG07_HUMAN DLC1 Rho GTPase-activating protein 7 1528 170.6 8 Cytoplasm; Cell junction; Membrane 0 0 7 1 5 2002-11-08 Q96QF0 RAB3I_HUMAN RAB3IP Rab-3A-interacting protein 476 53 12 Cytoplasm; Nucleus; Cell projection; Vesicle 0 0 7 1 5 2005-07-19 Q9BVI0 PHF20_HUMAN PHF20 PHD finger protein 20 1012 115.4 20 Nucleus 0 0 7 1 5 2003-07-11 Q9BXA5 SUCR1_HUMAN SUCNR1 Succinate receptor 1 334 38.7 3 Cell membrane 7 0 7 1 5 2004-05-24 Q9H0H5 RGAP1_HUMAN RACGAP1 Rac GTPase-activating protein 1 632 71 12 Nucleus; Cytoplasm; Cytoplasmic vesicle; Cleavage furrow; Midbody; Cell membrane 0 1 Anemia, congenital dyserythropoietic, 3B, autosomal recessive 7 1 5 2006-03-21 Q9H611 PIF1_HUMAN PIF1 ATP-dependent DNA helicase PIF1 641 69.8 15 5.6.2.3 Nucleus 0 0 7 1 5 2005-07-19 Q9NP71 MLXPL_HUMAN MLXIPL Carbohydrate-responsive element-binding protein 852 93.1 7 Cytoplasm; Nucleus 0 0 7 1 5 2002-01-23 Q9NQG6 MID51_HUMAN MIEF1 Mitochondrial dynamics protein MIEF1 463 51.3 22 Mitochondrion outer membrane 1 1 Optic atrophy 14 7 1 5 2007-11-13 Q9NRA2 S17A5_HUMAN SLC17A5 Sialin 495 54.6 6 Basolateral cell membrane; Cytoplasmic vesicle; Lysosome membrane 12 2 Salla disease; Infantile sialic acid storage disorder 7 1 5 2004-06-07 Q9NX14 NDUBB_HUMAN NDUFB11 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial 153 17.3 X Mitochondrion inner membrane 1 2 Linear skin defects with multiple congenital anomalies 3; Mitochondrial complex I deficiency, nuclear type 30 7 1 5 2003-07-03 Q9P000 COMD9_HUMAN COMMD9 COMM domain-containing protein 9 198 21.8 11 Nucleus; Cytoplasmic vesicle 0 0 7 1 5 2004-08-16 Q9P1U0 RPA12_HUMAN POLR1H DNA-directed RNA polymerase I subunit RPA12 126 13.9 6 Nucleus 0 0 7 1 5 2005-08-02 Q9P2E7 PCD10_HUMAN PCDH10 Protocadherin-10 1040 112.9 4 Cell membrane 1 0 7 1 5 2004-01-16 Q9Y3C4 TPRKB_HUMAN TPRKB EKC/KEOPS complex subunit TPRKB 175 19.7 2 Cytoplasm; Nucleus 0 1 Galloway-Mowat syndrome 5 7 1 5 2007-03-06 Q9Y4I1 MYO5A_HUMAN MYO5A Unconventional myosin-Va 1855 215.4 15 0 1 Griscelli syndrome 1 7 1 5 2001-04-27 Q9Y4U1 MMAC_HUMAN MMACHC Cyanocobalamin reductase / alkylcobalamin dealkylase 282 31.7 1 Cytoplasm 0 1 Methylmalonic aciduria and homocystinuria, cblC type 7 1 5 2006-01-10 A6ND01 JUNO_HUMAN IZUMO1R Sperm-egg fusion protein Juno 250 28.7 11 Cell membrane; Cell projection 0 0 7 1 5 2008-05-20 O00217 NDUS8_HUMAN NDUFS8 NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial 210 23.7 11 7.1.1.2 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 2 7 1 5 1997-11-01 O00602 FCN1_HUMAN FCN1 Ficolin-1 326 35.1 9 Secreted; Cell surface 0 0 7 1 5 2001-02-21 O14764 GBRD_HUMAN GABRD Gamma-aminobutyric acid receptor subunit delta 452 50.7 1 Cell membrane 4 2 Generalized epilepsy with febrile seizures plus 5; Epilepsy, idiopathic generalized 10 7 1 5 1998-07-15 O15460 P4HA2_HUMAN P4HA2 Prolyl 4-hydroxylase subunit alpha-2 535 60.9 5 1.14.11.2 Endoplasmic reticulum lumen 0 1 Myopia 25, autosomal dominant 7 1 5 2002-05-02 O43676 NDUB3_HUMAN NDUFB3 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 98 11.4 2 Mitochondrion inner membrane 1 1 Mitochondrial complex I deficiency, nuclear type 25 7 1 5 1999-07-15 O75473 LGR5_HUMAN LGR5 Leucine-rich repeat-containing G protein-coupled receptor 5 907 100 12 Cell membrane; Golgi apparatus 7 0 7 1 5 2002-06-20 O75489 NDUS3_HUMAN NDUFS3 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial 264 30.2 11 7.1.1.2 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 8 7 1 5 1998-12-15 O75509 TNR21_HUMAN TNFRSF21 Tumor necrosis factor receptor superfamily member 21 655 71.8 6 Cell membrane 1 0 7 1 5 2002-05-27 O95150 TNF15_HUMAN TNFSF15 Tumor necrosis factor ligand superfamily member 15 251 28.1 9 Membrane 1 0 7 1 5 2002-06-06 P03905 NU4M_HUMAN MT-ND4 NADH-ubiquinone oxidoreductase chain 4 459 51.6 MT 7.1.1.2 Mitochondrion inner membrane 11 3 Leber hereditary optic neuropathy; Leber hereditary optic neuropathy with dystonia; Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome 7 1 5 1986-07-21 P09919 CSF3_HUMAN CSF3 Granulocyte colony-stimulating factor 207 22.3 17 Secreted 0 0 7 1 5 1989-07-01 P0DSE1 TRAR1_HUMAN TRA M1-specific T cell receptor alpha chain 268 29.6 Cell membrane 1 0 7 1 5 2019-05-08 P11310 ACADM_HUMAN ACADM Medium-chain specific acyl-CoA dehydrogenase, mitochondrial 421 46.6 1 1.3.8.7 Mitochondrion matrix 0 1 Acyl-CoA dehydrogenase medium-chain deficiency 7 1 5 1989-07-01 P17174 AATC_HUMAN GOT1 Aspartate aminotransferase, cytoplasmic 413 46.2 10 2.6.1.1, 2.6.1.3 Cytoplasm 0 0 7 1 5 1990-08-01 P19878 NCF2_HUMAN NCF2 Neutrophil cytosol factor 2 526 59.8 1 Cytoplasm 0 1 Granulomatous disease, chronic, autosomal recessive, 2 7 1 5 1991-02-01 P20671 H2A1D_HUMAN H2AC7 Histone H2A type 1-D 130 14.1 6 Nucleus; Chromosome 0 0 7 1 5 1991-02-01 P32119 PRDX2_HUMAN PRDX2 Peroxiredoxin-2 198 21.9 19 1.11.1.24 Cytoplasm 0 0 7 1 5 1993-10-01 P35346 SSR5_HUMAN SSTR5 Somatostatin receptor type 5 364 39.2 16 Cell membrane 7 0 7 1 5 1994-06-01 P35354 PGH2_HUMAN PTGS2 Prostaglandin G/H synthase 2 604 69 1 1.14.99.1 Microsome membrane; Endoplasmic reticulum membrane; Nucleus inner membrane; Nucleus outer membrane 0 0 7 1 5 1994-06-01 P37108 SRP14_HUMAN SRP14 Signal recognition particle 14 kDa protein 136 14.6 15 Cytoplasm 0 0 7 1 5 1994-10-01 P40692 MLH1_HUMAN MLH1 DNA mismatch repair protein Mlh1 756 84.6 3 Nucleus; Chromosome 0 5 Lynch syndrome 2; Mismatch repair cancer syndrome 1; Muir-Torre syndrome; Endometrial cancer; Colorectal cancer 7 1 5 1995-02-01 P42081 CD86_HUMAN CD86 T-lymphocyte activation antigen CD86 329 37.7 3 Cell membrane 1 0 7 1 5 1995-11-01 P43004 EAA2_HUMAN SLC1A2 Excitatory amino acid transporter 2 574 62.1 11 Cell membrane 8 1 Developmental and epileptic encephalopathy 41 7 1 5 1995-11-01 P43378 PTN9_HUMAN PTPN9 Tyrosine-protein phosphatase non-receptor type 9 593 68 15 3.1.3.48 Cytoplasm 0 0 7 1 5 1995-11-01 P46063 RECQ1_HUMAN RECQL ATP-dependent DNA helicase Q1 649 73.5 12 5.6.2.4 Nucleus 0 1 RECON progeroid syndrome 7 1 5 1995-11-01 P49005 DPOD2_HUMAN POLD2 DNA polymerase delta subunit 2 469 51.3 7 Nucleus 0 0 7 1 5 1996-02-01 P50135 HNMT_HUMAN HNMT Histamine N-methyltransferase 292 33.3 2 2.1.1.8 Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 51 7 1 5 1996-10-01 P50591 TNF10_HUMAN TNFSF10 Tumor necrosis factor ligand superfamily member 10 281 32.5 3 Cell membrane; Secreted 1 0 7 1 5 1996-10-01 P51160 PDE6C_HUMAN PDE6C Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' 858 99.1 10 3.1.4.35 Photoreceptor outer segment membrane 0 2 Cone dystrophy 4; Achromatopsia 5 7 1 5 1996-10-01 P54709 AT1B3_HUMAN ATP1B3 Sodium/potassium-transporting ATPase subunit beta-3 279 31.5 3 Apical cell membrane; Basolateral cell membrane; Melanosome 1 0 7 1 5 1996-10-01 P55789 ALR_HUMAN GFER FAD-linked sulfhydryl oxidase ALR 205 23.4 16 1.8.3.2 Mitochondrion intermembrane space; Mitochondrion 0 1 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay 7 1 5 1997-11-01 P56192 SYMC_HUMAN MARS1 Methionine--tRNA ligase, cytoplasmic 900 101.1 12 6.1.1.10 Cytoplasm; Nucleus 0 4 Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2U; Trichothiodystrophy 9, non-photosensitive; Spastic paraplegia 70, autosomal recessive 7 1 5 1997-11-01 P57740 NU107_HUMAN NUP107 Nuclear pore complex protein Nup107 925 106.4 12 Nucleus membrane; Nucleus; Chromosome 0 3 Nephrotic syndrome 11; Ovarian dysgenesis 6; Galloway-Mowat syndrome 7 7 1 5 2001-01-11 P81274 GPSM2_HUMAN GPSM2 G protein-signaling modulator 2 684 76.7 1 Cytoplasm; Lateral cell membrane 0 1 Chudley-McCullough syndrome 7 1 5 2000-05-30 Q00975 CAC1B_HUMAN CACNA1B Voltage-dependent N-type calcium channel subunit alpha-1B 2339 262.5 9 Membrane 24 1 Neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements 7 1 5 1996-10-01 Q14103 HNRPD_HUMAN HNRNPD Heterogeneous nuclear ribonucleoprotein D0 355 38.4 4 Nucleus; Cytoplasm 0 0 7 1 5 2001-02-21 Q15019 SEPT2_HUMAN SEPTIN2 Septin-2 361 41.5 2 Cytoplasm; Chromosome; Cleavage furrow; Midbody; Cell projection 0 0 7 1 5 1997-11-01 Q2TAZ0 ATG2A_HUMAN ATG2A Autophagy-related protein 2 homolog A 1938 212.9 11 Preautophagosomal structure membrane; Lipid droplet; Endoplasmic reticulum membrane 0 0 7 1 5 2008-01-15 Q86WV5 TEN1L_HUMAN TEN1 CST complex subunit TEN1 123 13.9 17 Nucleus; Chromosome 0 0 7 1 5 2008-05-20 Q8IV08 PLD3_HUMAN PLD3 5'-3' exonuclease PLD3 490 54.7 19 3.1.16.1 Lysosome lumen; Early endosome membrane; Late endosome membrane; Endosome membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane 1 1 Spinocerebellar ataxia 46 7 1 5 2007-03-20 Q8WVM0 TFB1M_HUMAN TFB1M Dimethyladenosine transferase 1, mitochondrial 346 39.5 6 2.1.1.- Mitochondrion 0 0 7 1 5 2007-01-23 Q8WXC6 CSN9_HUMAN COPS9 COP9 signalosome complex subunit 9 57 6.2 2 Nucleus; Cytoplasm 0 0 7 1 5 2008-04-29 Q93050 VPP1_HUMAN ATP6V0A1 V-type proton ATPase 116 kDa subunit a 1 837 96.4 17 Cytoplasmic vesicle; Melanosome 8 2 Developmental and epileptic encephalopathy 104; Neurodevelopmental disorder with epilepsy and brain atrophy 7 1 5 1998-12-15 Q96B97 SH3K1_HUMAN SH3KBP1 SH3 domain-containing kinase-binding protein 1 665 73.1 X Cytoplasm; Cytoplasmic vesicle membrane; Synapse; Cell junction 0 1 Immunodeficiency 61 7 1 5 2003-05-23 Q96FW1 OTUB1_HUMAN OTUB1 Ubiquitin thioesterase OTUB1 271 31.3 11 3.4.19.12 Cytoplasm 0 0 7 1 5 2004-03-01 Q9GZS1 RPA49_HUMAN POLR1E DNA-directed RNA polymerase I subunit RPA49 419 47.3 9 Nucleus 0 0 7 1 5 2005-04-26 Q9H237 PORCN_HUMAN PORCN Protein-serine O-palmitoleoyltransferase porcupine 461 52.3 X 2.3.1.250 Endoplasmic reticulum membrane 8 1 Focal dermal hypoplasia 7 1 5 2005-10-25 Q9H2X3 CLC4M_HUMAN CLEC4M C-type lectin domain family 4 member M 399 45.4 19 Cell membrane 1 0 7 1 5 2004-04-13 Q9H8M5 CNNM2_HUMAN CNNM2 Metal transporter CNNM2 875 96.6 10 Cell membrane 3 2 Hypomagnesemia 6; Hypomagnesemia, seizures, and impaired intellectual development 1 7 1 5 2007-07-24 Q9H9Y6 RPA2_HUMAN POLR1B DNA-directed RNA polymerase I subunit RPA2 1135 128.2 2 2.7.7.6 Nucleus; Chromosome 0 1 Treacher Collins syndrome 4 7 1 5 2001-05-04 Q9UBU7 DBF4A_HUMAN DBF4 Protein DBF4 homolog A 674 76.9 7 Nucleus 0 0 7 1 5 2006-05-02 Q9ULT6 ZNRF3_HUMAN ZNRF3 E3 ubiquitin-protein ligase ZNRF3 936 100.6 22 2.3.2.27 Cell membrane 1 0 7 1 5 2007-02-20 Q9ULW8 PADI3_HUMAN PADI3 Protein-arginine deiminase type-3 664 74.7 1 3.5.3.15 Cytoplasm 0 1 Uncombable hair syndrome 1 7 1 5 2001-01-11 Q9UNA0 ATS5_HUMAN ADAMTS5 A disintegrin and metalloproteinase with thrombospondin motifs 5 930 101.7 21 3.4.24.- Secreted 0 0 7 1 5 2000-12-01 Q9Y566 SHAN1_HUMAN SHANK1 SH3 and multiple ankyrin repeat domains protein 1 2161 225 19 Cytoplasm; Postsynaptic density; Synapse 0 0 7 1 5 2002-07-26 O00167 EYA2_HUMAN EYA2 Protein phosphatase EYA2 538 59.2 20 3.1.3.48 Cytoplasm; Nucleus 0 0 7 1 5 1998-07-15 O15239 NDUA1_HUMAN NDUFA1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1 70 8.1 X Mitochondrion inner membrane 1 1 Mitochondrial complex I deficiency, nuclear type 12 7 1 5 1998-07-15 O43920 NDUS5_HUMAN NDUFS5 NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 106 12.5 1 Mitochondrion inner membrane; Mitochondrion intermembrane space 0 0 7 1 5 1998-12-15 O60832 DKC1_HUMAN DKC1 H/ACA ribonucleoprotein complex subunit DKC1 514 57.7 X 5.4.99.- Nucleus 0 3 Dyskeratosis congenita, X-linked; Hoyeraal-Hreidarsson syndrome; Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 7 1 5 1998-12-15 O60896 RAMP3_HUMAN RAMP3 Receptor activity-modifying protein 3 148 16.5 7 Cell membrane; Membrane 1 0 7 1 5 2000-12-01 O60934 NBN_HUMAN NBN Nibrin 754 85 8 Nucleus; Chromosome 0 3 Nijmegen breakage syndrome; Breast cancer; Aplastic anemia 7 1 5 2006-04-04 O75122 CLAP2_HUMAN CLASP2 CLIP-associating protein 2 1294 141.1 3 Cytoplasm; Chromosome; Golgi apparatus; Cell membrane; Cell projection 0 0 7 1 5 2005-10-11 O75380 NDUS6_HUMAN NDUFS6 NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial 124 13.7 5 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 9 7 1 5 1998-12-15 O95319 CELF2_HUMAN CELF2 CUGBP Elav-like family member 2 508 54.3 10 Nucleus; Cytoplasm 0 1 Developmental and epileptic encephalopathy 97 7 1 5 2007-07-10 O95391 SLU7_HUMAN SLU7 Pre-mRNA-splicing factor SLU7 586 68.4 5 Nucleus; Nucleus speckle; Cytoplasm 0 0 7 1 5 2007-05-29 O95477 ABCA1_HUMAN ABCA1 Phospholipid-transporting ATPase ABCA1 2261 254.3 9 7.6.2.1 Cell membrane; Endosome 15 2 Tangier disease; Hypoalphalipoproteinemia, primary, 1 7 1 5 2000-12-01 P07101 TY3H_HUMAN TH Tyrosine 3-monooxygenase 528 58.6 11 1.14.16.2 Cytoplasm; Nucleus; Cell projection; Cytoplasmic vesicle 0 1 Segawa syndrome autosomal recessive 7 1 5 1988-04-01 P13498 CY24A_HUMAN CYBA Cytochrome b-245 light chain 195 21 16 Cell membrane 4 1 Granulomatous disease, chronic, autosomal recessive, 4 7 1 5 1990-01-01 P13612 ITA4_HUMAN ITGA4 Integrin alpha-4 1032 114.9 2 Membrane 1 0 7 1 5 1990-01-01 P20591 MX1_HUMAN MX1 Interferon-induced GTP-binding protein Mx1 662 75.5 21 Cytoplasm; Endoplasmic reticulum membrane 0 0 7 1 5 1991-02-01 P21695 GPDA_HUMAN GPD1 Glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic 349 37.6 12 1.1.1.8 Cytoplasm 0 1 Hypertriglyceridemia, transient infantile 7 1 5 1991-05-01 P22413 ENPP1_HUMAN ENPP1 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 925 104.9 6 Cell membrane; Basolateral cell membrane 1 5 Ossification of the posterior longitudinal ligament of the spine; Arterial calcification of infancy, generalized, 1; Type 2 diabetes mellitus; Hypophosphatemic rickets, autosomal recessive, 2; Cole disease 7 1 5 1991-08-01 P28329 CLAT_HUMAN CHAT Choline O-acetyltransferase 748 82.5 10 2.3.1.6 0 1 Myasthenic syndrome, congenital, 6, presynaptic 7 1 5 1992-12-01 P35558 PCKGC_HUMAN PCK1 Phosphoenolpyruvate carboxykinase, cytosolic [GTP] 622 69.2 20 4.1.1.32 Cytoplasm; Endoplasmic reticulum 0 1 Phosphoenolpyruvate carboxykinase deficiency, cytosolic 7 1 5 1994-06-01 P35658 NU214_HUMAN NUP214 Nuclear pore complex protein Nup214 2090 213.6 9 Nucleus 0 1 Encephalopathy, acute, infection-induced, 9 7 1 5 1994-06-01 P41597 CCR2_HUMAN CCR2 C-C chemokine receptor type 2 374 41.9 3 Cell membrane 7 1 Polycystic lung disease 7 1 5 1995-11-01 P42226 STAT6_HUMAN STAT6 Signal transducer and activator of transcription 6 847 94.1 12 Cytoplasm; Nucleus 0 1 Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections 7 1 5 1995-11-01 P49281 NRAM2_HUMAN SLC11A2 Natural resistance-associated macrophage protein 2 568 62.3 12 Mitochondrion outer membrane; Golgi apparatus; Recycling endosome membrane 12 1 Anemia, hypochromic microcytic, with iron overload 1 7 1 5 1996-02-01 P52735 VAV2_HUMAN VAV2 Guanine nucleotide exchange factor VAV2 878 101.3 9 0 0 7 1 5 1996-10-01 P54253 ATX1_HUMAN ATXN1 Ataxin-1 815 86.9 6 Cytoplasm; Nucleus 0 1 Spinocerebellar ataxia 1 7 1 5 1996-10-01 P60604 UB2G2_HUMAN UBE2G2 Ubiquitin-conjugating enzyme E2 G2 165 18.6 21 2.3.2.23 Endoplasmic reticulum; Lipid droplet 0 0 7 1 5 2004-03-15 P63027 VAMP2_HUMAN VAMP2 Vesicle-associated membrane protein 2 116 12.7 17 Cytoplasmic vesicle; Cell membrane 1 1 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 7 1 5 2004-08-31 Q00872 MYPC1_HUMAN MYBPC1 Myosin-binding protein C, slow-type 1141 128.3 12 0 3 Arthrogryposis, distal, 1B; Lethal congenital contracture syndrome 4; Congenital myopathy 16 7 1 5 1994-02-01 Q01780 EXOSX_HUMAN EXOSC10 Exosome complex component 10 885 100.8 1 3.1.13.- Cytoplasm; Nucleus 0 0 7 1 5 1993-10-01 Q06278 AOXA_HUMAN AOX1 Aldehyde oxidase 1338 147.9 2 1.2.3.1 Cytoplasm 0 0 7 1 5 1994-06-01 Q06520 ST2A1_HUMAN SULT2A1 Sulfotransferase 2A1 285 33.8 19 2.8.2.2 Cytoplasm 0 0 7 1 5 1995-11-01 Q07954 LRP1_HUMAN LRP1 Prolow-density lipoprotein receptor-related protein 1 4544 504.6 12 Golgi outpost; Cytoplasm 1 2 Keratosis pilaris atrophicans; Developmental dysplasia of the hip 3 7 1 5 1996-10-01 Q13873 BMPR2_HUMAN BMPR2 Bone morphogenetic protein receptor type-2 1038 115.2 2 2.7.11.30 Cell membrane 1 2 Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1, autosomal dominant 7 1 5 2000-12-01 Q16795 NDUA9_HUMAN NDUFA9 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial 377 42.5 12 Mitochondrion matrix 0 1 Mitochondrial complex I deficiency, nuclear type 26 7 1 5 1997-11-01 Q5JW98 CAHM4_HUMAN CALHM4 Calcium homeostasis modulator protein 4 314 35.1 6 Cell membrane 4 0 7 1 5 2005-06-07 Q5K651 SAMD9_HUMAN SAMD9 Sterile alpha motif domain-containing protein 9 1589 184.3 7 Cytoplasm 0 3 Tumoral calcinosis, normophosphatemic, familial; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2 7 1 5 2005-07-19 Q5VW32 BROX_HUMAN BROX BRO1 domain-containing protein BROX 411 46.5 1 Nucleus membrane 0 0 7 1 5 2007-09-11 Q7Z2W4 ZCCHV_HUMAN ZC3HAV1 Zinc finger CCCH-type antiviral protein 1 902 101.4 7 Nucleus; Lysosome; Late endosome 0 0 7 1 5 2004-05-10 Q8NBJ9 SIDT2_HUMAN SIDT2 SID1 transmembrane family member 2 832 94.5 11 Lysosome membrane; Cell membrane 10 0 7 1 5 2005-04-26 Q8NBS9 TXND5_HUMAN TXNDC5 Thioredoxin domain-containing protein 5 432 47.6 6 1.8.4.-, 5.3.4.1 Endoplasmic reticulum lumen 0 0 7 1 5 2003-04-11 Q8NE01 CNNM3_HUMAN CNNM3 Metal transporter CNNM3 707 76.1 2 Cell membrane 4 0 7 1 5 2007-07-24 Q8NI77 KI18A_HUMAN KIF18A Kinesin-like protein KIF18A 898 102.3 11 Cell projection; Cytoplasm; Nucleus 0 0 7 1 5 2005-05-10 Q96JH7 VCIP1_HUMAN VCPIP1 Deubiquitinating protein VCPIP1 1222 134.3 8 3.4.19.12 Nucleus; Cytoplasm; Endoplasmic reticulum; Golgi apparatus 0 0 7 1 5 2004-02-16 Q96LA9 MRGX4_HUMAN MRGPRX4 Mas-related G protein-coupled receptor member X4 322 36.5 11 Cell membrane 7 0 7 1 5 2004-07-19 Q96LB2 MRGX1_HUMAN MRGPRX1 Mas-related G protein-coupled receptor member X1 322 36.3 11 Cell membrane 7 0 7 1 5 2004-07-19 Q96P68 OXGR1_HUMAN OXGR1 2-oxoglutarate receptor 1 337 38.3 13 Cell membrane 7 1 Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis 7 1 5 2003-10-10 Q96RK0 CIC_HUMAN CIC Protein capicua homolog 2517 258 19 Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 45 7 1 5 2005-09-27 Q9H1A3 METL9_HUMAN METTL9 Protein-L-histidine N-pros-methyltransferase 318 36.5 16 2.1.1.- Endoplasmic reticulum; Mitochondrion 0 0 7 1 5 2008-02-05 Q9H3R0 KDM4C_HUMAN KDM4C Lysine-specific demethylase 4C 1056 120 9 1.14.11.66 Nucleus 0 0 7 1 5 2004-02-16 Q9NPI8 FANCF_HUMAN FANCF Fanconi anemia group F protein 374 42.3 11 Nucleus 0 1 Fanconi anemia complementation group F 7 1 5 2002-10-10 Q9NQG5 RPR1B_HUMAN RPRD1B Regulation of nuclear pre-mRNA domain-containing protein 1B 326 36.9 20 Nucleus 0 0 7 1 5 2002-10-10 Q9NXS2 QPCTL_HUMAN QPCTL Glutaminyl-peptide cyclotransferase-like protein 382 42.9 19 2.3.2.5 Golgi apparatus membrane 1 0 7 1 5 2007-09-11 Q9NY12 GAR1_HUMAN GAR1 H/ACA ribonucleoprotein complex subunit 1 217 22.3 4 Nucleus 0 0 7 1 5 2004-08-31 Q9NZL9 MAT2B_HUMAN MAT2B Methionine adenosyltransferase 2 subunit beta 334 37.6 5 0 0 7 1 5 2007-05-15 Q9P2J5 SYLC_HUMAN LARS1 Leucine--tRNA ligase, cytoplasmic 1176 134.5 5 6.1.1.4 Cytoplasm 0 1 Infantile liver failure syndrome 1 7 1 5 2004-06-07 Q9UBP0 SPAST_HUMAN SPAST Spastin 616 67.2 2 5.6.1.1 Membrane; Endoplasmic reticulum; Midbody; Cytoplasm; Nucleus; Cell projection 0 1 Spastic paraplegia 4, autosomal dominant 7 1 5 2001-01-11 Q9UI09 NDUAC_HUMAN NDUFA12 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 145 17.1 12 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 23 7 1 5 2000-12-01 Q9UJA3 MCM8_HUMAN MCM8 DNA helicase MCM8 840 93.7 20 5.6.2.4 Nucleus; Chromosome; Cytoplasm; Mitochondrion matrix 0 1 Premature ovarian failure 10 7 1 5 2003-01-17 Q9ULK5 VANG2_HUMAN VANGL2 Vang-like protein 2 521 59.7 1 Cell membrane 4 1 Neural tube defects 7 1 5 2003-10-31 Q9Y4P1 ATG4B_HUMAN ATG4B Cysteine protease ATG4B 393 44.3 2 3.4.22.- Cytoplasm; Cytoplasmic vesicle; Endoplasmic reticulum; Mitochondrion 0 0 7 1 5 2005-03-15 Q9Y6M9 NDUB9_HUMAN NDUFB9 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 179 21.8 8 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 24 7 1 5 2000-05-30 O14893 GEMI2_HUMAN GEMIN2 Gem-associated protein 2 280 31.6 14 Nucleus; Cytoplasm 0 0 7 1 5 1999-07-15 O15105 SMAD7_HUMAN SMAD7 SMAD family member 7 426 46.4 18 Nucleus; Cytoplasm 0 1 Colorectal cancer 3 7 1 5 2001-05-04 O15305 PMM2_HUMAN PMM2 Phosphomannomutase 2 246 28.1 16 5.4.2.8 Cytoplasm 0 1 Congenital disorder of glycosylation 1A 7 1 5 1998-07-15 O43524 FOXO3_HUMAN FOXO3 Forkhead box protein O3 673 71.3 6 Cytoplasm; Nucleus; Mitochondrion matrix; Mitochondrion outer membrane 0 0 7 1 5 2000-05-30 O43557 TNF14_HUMAN TNFSF14 Tumor necrosis factor ligand superfamily member 14 240 26.4 19 Cell membrane 1 0 7 1 5 2001-02-21 O60493 SNX3_HUMAN SNX3 Sorting nexin-3 162 18.8 6 Early endosome; Cytoplasmic vesicle 0 0 7 1 5 2000-12-01 O60547 GMDS_HUMAN GMDS GDP-mannose 4,6 dehydratase 372 42 6 4.2.1.47 0 0 7 1 5 2000-12-01 O60573 IF4E2_HUMAN EIF4E2 Eukaryotic translation initiation factor 4E type 2 245 28.4 2 Cytoplasm 0 0 7 1 5 2003-04-11 O75351 VPS4B_HUMAN VPS4B Vacuolar protein sorting-associated protein 4B 444 49.3 18 3.6.4.6 Late endosome membrane 0 1 Dentin dysplasia 1B 7 1 5 2000-12-01 O75419 CDC45_HUMAN CDC45 Cell division control protein 45 homolog 566 65.6 22 Nucleus; Chromosome 0 1 Meier-Gorlin syndrome 7 7 1 5 2000-05-30 O76094 SRP72_HUMAN SRP72 Signal recognition particle subunit SRP72 671 74.6 4 Cytoplasm; Endoplasmic reticulum 0 1 Bone marrow failure syndrome 1 7 1 5 1998-12-15 O95167 NDUA3_HUMAN NDUFA3 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3 84 9.3 19 Mitochondrion inner membrane 1 0 7 1 5 1999-07-15 O95182 NDUA7_HUMAN NDUFA7 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 113 12.6 19 Mitochondrion inner membrane 0 0 7 1 5 1999-07-15 P00367 DHE3_HUMAN GLUD1 Glutamate dehydrogenase 1, mitochondrial 558 61.4 10 1.4.1.3 Mitochondrion; Endoplasmic reticulum 0 1 Hyperinsulinemic hypoglycemia, familial, 6 7 1 5 1986-07-21 P00709 LALBA_HUMAN LALBA Alpha-lactalbumin 142 16.2 12 Secreted 0 0 7 1 5 1986-07-21 P03891 NU2M_HUMAN MT-ND2 NADH-ubiquinone oxidoreductase chain 2 347 39 MT 7.1.1.2 Mitochondrion inner membrane 10 3 Leber hereditary optic neuropathy; Alzheimer disease mitochondrial; Leigh syndrome 7 1 5 1986-07-21 P11169 GTR3_HUMAN SLC2A3 Solute carrier family 2, facilitated glucose transporter member 3 496 53.9 12 Cell membrane; Perikaryon; Cell projection 12 0 7 1 5 1989-07-01 P11229 ACM1_HUMAN CHRM1 Muscarinic acetylcholine receptor M1 460 51.4 11 Cell membrane; Postsynaptic cell membrane 7 0 7 1 5 1989-07-01 P15311 EZRI_HUMAN EZR Ezrin 586 69.4 6 Apical cell membrane; Cell projection; Cytoplasm 0 0 7 1 5 1990-04-01 P17568 NDUB7_HUMAN NDUFB7 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 137 16.4 19 Mitochondrion inner membrane; Mitochondrion intermembrane space 0 1 Mitochondrial complex I deficiency, nuclear type 39 7 1 5 1990-08-01 P19404 NDUV2_HUMAN NDUFV2 NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial 249 27.4 18 7.1.1.2 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 7 7 1 5 1990-11-01 P20273 CD22_HUMAN CD22 B-cell receptor CD22 847 95.3 19 Cell membrane 1 0 7 1 5 1991-02-01 P23511 NFYA_HUMAN NFYA Nuclear transcription factor Y subunit alpha 347 36.9 6 Nucleus 0 0 7 1 5 1991-11-01 P28065 PSB9_HUMAN PSMB9 Proteasome subunit beta type-9 219 23.3 6 3.4.25.1 Cytoplasm; Nucleus 0 2 Proteasome-associated autoinflammatory syndrome 3; Proteasome-associated autoinflammatory syndrome 6 7 1 5 1992-08-01 P28331 NDUS1_HUMAN NDUFS1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial 727 79.5 2 7.1.1.2 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 5 7 1 5 1992-12-01 P28702 RXRB_HUMAN RXRB Retinoic acid receptor RXR-beta 533 56.9 6 Nucleus; Cytoplasm 0 0 7 1 5 1992-12-01 P32248 CCR7_HUMAN CCR7 C-C chemokine receptor type 7 378 42.9 17 Cell membrane 7 0 7 1 5 1993-10-01 P40926 MDHM_HUMAN MDH2 Malate dehydrogenase, mitochondrial 338 35.5 7 1.1.1.37 Mitochondrion matrix 0 1 Developmental and epileptic encephalopathy 51 7 1 5 1995-02-01 P42701 I12R1_HUMAN IL12RB1 Interleukin-12 receptor subunit beta-1 662 73.1 19 Membrane 1 1 Immunodeficiency 30 7 1 5 1995-11-01 P50052 AGTR2_HUMAN AGTR2 Type-2 angiotensin II receptor 363 41.2 X Cell membrane 7 0 7 1 5 1996-10-01 P51659 DHB4_HUMAN HSD17B4 Peroxisomal multifunctional enzyme type 2 736 79.7 5 Peroxisome 0 2 D-bifunctional protein deficiency; Perrault syndrome 1 7 1 5 1996-10-01 P52566 GDIR2_HUMAN ARHGDIB Rho GDP-dissociation inhibitor 2 201 23 12 Cytoplasm 0 0 7 1 5 1996-10-01 P53671 LIMK2_HUMAN LIMK2 LIM domain kinase 2 638 72.2 22 2.7.11.1 Cytoplasm 0 0 7 1 5 1996-10-01 P55085 PAR2_HUMAN F2RL1 Proteinase-activated receptor 2 397 44.1 5 Cell membrane 7 0 7 1 5 1996-10-01 P56181 NDUV3_HUMAN NDUFV3 NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial 108 11.9 21 Mitochondrion inner membrane 0 0 7 1 5 1997-11-01 P60903 S10AA_HUMAN S100A10 Protein S100-A10 97 11.2 1 0 0 7 1 5 1988-08-01 Q08AH3 ACS2A_HUMAN ACSM2A Acyl-coenzyme A synthetase ACSM2A, mitochondrial 577 64.2 16 6.2.1.2 Mitochondrion 0 0 7 1 5 2007-10-02 Q13232 NDKC_HUMAN NME3 Nucleoside diphosphate kinase C 169 19 16 2.7.4.6 Mitochondrion outer membrane; Cytoplasm 0 0 7 1 5 1998-12-15 Q15375 EPHA7_HUMAN EPHA7 Ephrin type-A receptor 7 998 112.1 6 2.7.10.1 Cell membrane 1 0 7 1 5 1997-11-01 Q15628 TRADD_HUMAN TRADD Tumor necrosis factor receptor type 1-associated DEATH domain protein 312 34.2 16 Nucleus; Cytoplasm 0 0 7 1 5 1997-11-01 Q2I0M4 LRC26_HUMAN LRRC26 Leucine-rich repeat-containing protein 26 334 34.9 9 Cell membrane; Cytoplasm 1 0 7 1 5 2007-11-13 Q6IEG0 SNR48_HUMAN SNRNP48 U11/U12 small nuclear ribonucleoprotein 48 kDa protein 339 40 6 Nucleus 0 0 7 1 5 2005-07-19 Q6PI25 CNIH2_HUMAN CNIH2 Protein cornichon homolog 2 160 18.9 11 Endoplasmic reticulum membrane; Postsynaptic cell membrane; Cell projection; Postsynaptic density 3 0 7 1 5 2005-03-15 Q6XZF7 DNMBP_HUMAN DNMBP Dynamin-binding protein 1577 177.3 10 Cytoplasm; Golgi apparatus; Synapse; Cell junction 0 1 Cataract 48 7 1 5 2004-12-07 Q86TM6 SYVN1_HUMAN SYVN1 E3 ubiquitin-protein ligase synoviolin 617 67.7 11 2.3.2.27 Endoplasmic reticulum membrane 6 0 7 1 5 2007-03-20 Q86WJ1 CHD1L_HUMAN CHD1L ATP-dependent chromatin remodeler CHD1L 897 101 1 3.6.4.- Nucleus; Chromosome 0 0 7 1 5 2008-04-29 Q8NFN8 GP156_HUMAN GPR156 Probable G protein-coupled receptor 156 814 89.1 3 Cell membrane 7 1 Deafness, autosomal recessive, 121 7 1 5 2005-08-16 Q8NG31 KNL1_HUMAN KNL1 Outer kinetochore KNL1 complex subunit KNL1 2342 265.4 15 Nucleus; Chromosome; Cytoplasm 0 1 Microcephaly 4, primary, autosomal recessive 7 1 5 2005-05-24 Q8NHY2 COP1_HUMAN COP1 E3 ubiquitin-protein ligase COP1 731 80.5 1 2.3.2.27 Nucleus speckle; Cytoplasm 0 0 7 1 5 2004-11-23 Q8TCB7 METL6_HUMAN METTL6 tRNA N(3)-cytidine methyltransferase METTL6 284 33.3 3 2.1.1.- Cytoplasm; Nucleus 0 0 7 1 5 2003-10-03 Q92583 CCL17_HUMAN CCL17 C-C motif chemokine 17 94 10.5 16 Secreted 0 0 7 1 5 1998-07-15 Q92692 NECT2_HUMAN NECTIN2 Nectin-2 538 57.7 19 Cell membrane 1 0 7 1 5 2001-01-11 Q92871 PMM1_HUMAN PMM1 Phosphomannomutase 1 262 29.7 22 5.4.2.8 Cytoplasm 0 0 7 1 5 1997-11-01 Q92959 SO2A1_HUMAN SLCO2A1 Solute carrier organic anion transporter family member 2A1 643 70 3 Cell membrane; Basal cell membrane; Cytoplasm; Lysosome 12 2 PHOAR2-enteropathy syndrome; Hypertrophic osteoarthropathy, primary, autosomal dominant 7 1 5 1998-12-15 Q99748 NRTN_HUMAN NRTN Neurturin 197 22.4 19 Secreted 0 0 7 1 5 1997-11-01 Q9BUR4 TCAB1_HUMAN WRAP53 Telomerase Cajal body protein 1 548 59.3 17 Nucleus; Chromosome 0 1 Dyskeratosis congenita, autosomal recessive, 3 7 1 5 2006-06-27 Q9H078 CLPB_HUMAN CLPB Mitochondrial disaggregase 707 78.7 11 3.6.1.- Mitochondrion intermembrane space 0 3 3-methylglutaconic aciduria 7B; 3-methylglutaconic aciduria 7A; Neutropenia, severe congenital 9, autosomal dominant 7 1 5 2002-11-08 Q9H2G2 SLK_HUMAN SLK STE20-like serine/threonine-protein kinase 1235 142.7 10 2.7.11.1 Cytoplasm 0 0 7 1 5 2006-05-02 Q9H479 FN3K_HUMAN FN3K Fructosamine-3-kinase 309 35.2 17 2.7.1.171 0 0 7 1 5 2001-05-04 Q9H875 PKRI1_HUMAN PRKRIP1 PRKR-interacting protein 1 184 21 7 Nucleus 0 0 7 1 5 2008-03-18 Q9HCE7 SMUF1_HUMAN SMURF1 E3 ubiquitin-protein ligase SMURF1 757 86.1 7 2.3.2.26 Cytoplasm; Cell membrane 0 0 7 1 5 2001-12-13 Q9HD40 SPCS_HUMAN SEPSECS O-phosphoseryl-tRNA(Sec) selenium transferase 501 55.7 4 2.9.1.2 Cytoplasm 0 1 Pontocerebellar hypoplasia 2D 7 1 5 2005-03-29 Q9HD67 MYO10_HUMAN MYO10 Unconventional myosin-X 2058 237.3 5 Cytoplasm; Cell projection 0 0 7 1 5 2001-12-05 Q9NX24 NHP2_HUMAN NHP2 H/ACA ribonucleoprotein complex subunit 2 153 17.2 5 Nucleus 0 1 Dyskeratosis congenita, autosomal recessive, 2 7 1 5 2005-07-05 Q9UHC9 NPCL1_HUMAN NPC1L1 NPC1-like intracellular cholesterol transporter 1 1359 148.7 7 Apical cell membrane; Cell membrane; Cytoplasmic vesicle membrane 13 0 7 1 5 2005-08-30 Q9UKS7 IKZF2_HUMAN IKZF2 Zinc finger protein Helios 526 59.6 2 Nucleus 0 2 Immunodysregulation with variable immunodeficiency and autoimmunity; ICHAD syndrome 7 1 5 2000-12-01 Q9UNG2 TNF18_HUMAN TNFSF18 Tumor necrosis factor ligand superfamily member 18 177 20.3 1 Cell membrane 1 0 7 1 5 2001-02-21 O00198 HRK_HUMAN HRK Activator of apoptosis harakiri 91 9.9 12 Membrane; Mitochondrion 1 0 7 1 5 1997-11-01 O00499 BIN1_HUMAN BIN1 Myc box-dependent-interacting protein 1 593 64.7 2 Nucleus; Cytoplasm; Endosome; Cell membrane 0 1 Myopathy, centronuclear, 2 7 1 5 2001-07-11 O14976 GAK_HUMAN GAK Cyclin-G-associated kinase 1311 143.2 4 2.7.11.1 Cytoplasm; Golgi apparatus; Cell junction; Cytoplasmic vesicle 0 0 7 1 5 2001-08-29 O15496 PA2GX_HUMAN PLA2G10 Group 10 secretory phospholipase A2 165 18.2 16 3.1.1.4 Secreted; Lysosome; Cytoplasmic vesicle 0 0 7 1 5 1998-12-15 O43278 SPIT1_HUMAN SPINT1 Kunitz-type protease inhibitor 1 529 58.4 15 Secreted; Cytoplasm; Cell membrane 0 0 7 1 5 2001-02-21 O43293 DAPK3_HUMAN DAPK3 Death-associated protein kinase 3 454 52.5 19 2.7.11.1 Nucleus; Cytoplasm; Chromosome; Midbody 0 0 7 1 5 2003-11-28 O43674 NDUB5_HUMAN NDUFB5 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial 189 21.8 3 Mitochondrion inner membrane 1 0 7 1 5 1999-07-15 O60603 TLR2_HUMAN TLR2 Toll-like receptor 2 784 89.8 4 Membrane; Cytoplasmic vesicle; Membrane raft 1 0 7 1 5 2002-01-31 O60671 RAD1_HUMAN RAD1 Cell cycle checkpoint protein RAD1 282 31.8 5 Nucleus 0 0 7 1 5 2006-03-07 O60869 EDF1_HUMAN EDF1 Endothelial differentiation-related factor 1 148 16.4 9 Cytoplasm; Nucleus 0 0 7 1 5 2005-04-12 O75251 NDUS7_HUMAN NDUFS7 NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial 213 23.6 19 7.1.1.2 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 3 7 1 5 1999-07-15 O94788 AL1A2_HUMAN ALDH1A2 Retinal dehydrogenase 2 518 56.7 15 1.2.1.36 Cytoplasm 0 1 Diaphragmatic hernia 4, with cardiovascular defects 7 1 5 1999-07-15 O95602 RPA1_HUMAN POLR1A DNA-directed RNA polymerase I subunit RPA1 1720 194.8 2 2.7.7.6 Nucleus; Chromosome 0 2 Acrofacial dysostosis, Cincinnati type; Leukodystrophy, hypomyelinating, 27 7 1 5 2000-12-01 P06729 CD2_HUMAN CD2 T-cell surface antigen CD2 351 39.4 1 Cell membrane 1 0 7 1 5 1988-01-01 P07195 LDHB_HUMAN LDHB L-lactate dehydrogenase B chain 334 36.6 12 1.1.1.27 Cytoplasm; Mitochondrion inner membrane 0 1 Lactate dehydrogenase B deficiency 7 1 5 1988-04-01 P07954 FUMH_HUMAN FH Fumarate hydratase, mitochondrial 510 54.6 1 4.2.1.2 Mitochondrion 0 2 Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer 7 1 5 1988-08-01 P08138 TNR16_HUMAN NGFR Tumor necrosis factor receptor superfamily member 16 427 45.2 17 Cell membrane; Cytoplasm; Perikaryon; Cell projection 1 0 7 1 5 1988-08-01 P08588 ADRB1_HUMAN ADRB1 Beta-1 adrenergic receptor 477 51.2 10 Cell membrane 7 0 7 1 5 1988-08-01 P09488 GSTM1_HUMAN GSTM1 Glutathione S-transferase Mu 1 218 25.7 1 2.5.1.18 Cytoplasm 0 0 7 1 5 1989-07-01 P0C6T2 OST4_HUMAN OST4 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 4 37 4.2 2 Endoplasmic reticulum; Endoplasmic reticulum membrane 1 0 7 1 5 2008-04-08 P0DN86 CGB3_HUMAN CGB3 Choriogonadotropin subunit beta 3 165 17.7 19 Secreted 0 0 7 1 5 2016-05-11 P12104 FABPI_HUMAN FABP2 Fatty acid-binding protein, intestinal 132 15.2 4 Cytoplasm 0 0 7 1 5 1989-10-01 P12314 FCGR1_HUMAN FCGR1A High affinity immunoglobulin gamma Fc receptor I 374 42.6 1 Cell membrane 1 0 7 1 5 1989-10-01 P17927 CR1_HUMAN CR1 Complement receptor type 1 2039 223.7 1 Membrane 1 0 7 1 5 1990-11-01 P24752 THIL_HUMAN ACAT1 Acetyl-CoA acetyltransferase, mitochondrial 427 45.2 11 2.3.1.9 Mitochondrion 0 1 3-ketothiolase deficiency 7 1 5 1992-03-01 P26678 PPLA_HUMAN PLN Phospholamban 52 6.1 6 Endoplasmic reticulum membrane; Sarcoplasmic reticulum membrane; Mitochondrion membrane; Membrane 1 2 Cardiomyopathy, dilated, 1P; Cardiomyopathy, familial hypertrophic, 18 7 1 5 1992-08-01 P27348 1433T_HUMAN YWHAQ 14-3-3 protein theta 245 27.8 2 Cytoplasm 0 0 7 1 5 1992-08-01 P29374 ARI4A_HUMAN ARID4A AT-rich interactive domain-containing protein 4A 1257 142.8 14 Nucleus 0 0 7 1 5 1992-12-01 P30519 HMOX2_HUMAN HMOX2 Heme oxygenase 2 316 36 16 1.14.14.18 Microsome membrane; Endoplasmic reticulum membrane 1 0 7 1 5 1993-04-01 P47992 XCL1_HUMAN XCL1 Lymphotactin 114 12.5 1 Secreted 0 0 7 1 5 1996-02-01 P51575 P2RX1_HUMAN P2RX1 P2X purinoceptor 1 399 45 17 Cell membrane 2 0 7 1 5 1996-10-01 P53816 PLAT3_HUMAN PLAAT3 Phospholipase A and acyltransferase 3 162 17.9 11 2.3.1.-, 3.1.1.32, 3.1.1.4 Cell membrane; Cytoplasm; Peroxisome membrane; Mitochondrion membrane; Nucleus envelope; Lysosome membrane; Endoplasmic reticulum membrane 1 1 Lipodystrophy, familial partial, 9 7 1 5 1996-10-01 P54252 ATX3_HUMAN ATXN3 Ataxin-3 361 41.3 14 3.4.19.12 Nucleus matrix; Nucleus; Lysosome membrane 0 1 Spinocerebellar ataxia 3 7 1 5 1996-10-01 P56199 ITA1_HUMAN ITGA1 Integrin alpha-1 1179 130.8 5 Membrane 1 0 7 1 5 1997-11-01 P56556 NDUA6_HUMAN NDUFA6 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6 128 15.1 22 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 33 7 1 5 1998-07-15 P61081 UBC12_HUMAN UBE2M NEDD8-conjugating enzyme Ubc12 183 20.9 19 2.3.2.34 0 0 7 1 5 2004-04-26 Q02080 MEF2B_HUMAN MEF2B Myocyte-specific enhancer factor 2B 365 38.6 19 Nucleus 0 0 7 1 5 1995-11-01 Q07075 AMPE_HUMAN ENPEP Glutamyl aminopeptidase 957 109.2 4 3.4.11.7 Cell membrane 1 0 7 1 5 1994-10-01 Q0JRZ9 FCHO2_HUMAN FCHO2 F-BAR domain only protein 2 810 88.9 5 Membrane 0 0 7 1 5 2006-12-12 Q13477 MADCA_HUMAN MADCAM1 Mucosal addressin cell adhesion molecule 1 382 40.2 19 Membrane 1 0 7 1 5 2004-02-02 Q13651 I10R1_HUMAN IL10RA Interleukin-10 receptor subunit alpha 578 63 11 Cell membrane; Cytoplasm 1 1 Inflammatory bowel disease 28, autosomal recessive 7 1 5 1998-07-15 Q13813 SPTN1_HUMAN SPTAN1 Spectrin alpha chain, non-erythrocytic 1 2472 284.5 9 Cytoplasm 0 4 Developmental and epileptic encephalopathy 5; Developmental delay with or without epilepsy; Neuronopathy, distal hereditary motor, autosomal dominant 11; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 7 1 5 1997-11-01 Q641Q2 WAC2A_HUMAN WASHC2A WASH complex subunit 2A 1341 147.2 10 Early endosome membrane; Cell membrane 0 0 7 1 5 2008-02-05 Q7Z3J2 VP35L_HUMAN VPS35L VPS35 endosomal protein-sorting factor-like 963 109.6 16 Membrane; Endosome 1 1 Ritscher-Schinzel syndrome 3 7 1 5 2007-11-13 Q86V25 VASH2_HUMAN VASH2 Tubulinyl-Tyr carboxypeptidase 2 355 40.5 1 3.4.17.17 Cytoplasm; Secreted 0 0 7 1 5 2005-04-12 Q8IY92 SLX4_HUMAN SLX4 Structure-specific endonuclease subunit SLX4 1834 200 16 Nucleus 0 1 Fanconi anemia complementation group P 7 1 5 2004-07-19 Q8IZL8 PELP1_HUMAN PELP1 Proline-, glutamic acid- and leucine-rich protein 1 1130 119.7 17 Nucleus; Cytoplasm 0 0 7 1 5 2006-10-03 Q8N1F7 NUP93_HUMAN NUP93 Nuclear pore complex protein Nup93 819 93.5 16 Nucleus membrane; Nucleus; Nucleus envelope 0 1 Nephrotic syndrome 12 7 1 5 2004-01-16 Q8N423 LIRB2_HUMAN LILRB2 Leukocyte immunoglobulin-like receptor subfamily B member 2 597 65 19 Cell membrane 1 0 7 1 5 2003-10-03 Q8NEW0 ZNT7_HUMAN SLC30A7 Zinc transporter 7 376 41.6 1 Golgi apparatus membrane; Cytoplasmic vesicle; Golgi apparatus; Sarcoplasmic reticulum; Mitochondrion; Cytoplasm 6 1 Ziegler-Huang syndrome 7 1 5 2008-01-15 Q8WUA2 PPIL4_HUMAN PPIL4 Peptidyl-prolyl cis-trans isomerase-like 4 492 57.2 6 5.2.1.8 Nucleus 0 0 7 1 5 2006-04-18 Q8WW01 SEN15_HUMAN TSEN15 tRNA-splicing endonuclease subunit Sen15 171 18.6 1 Nucleus 0 1 Pontocerebellar hypoplasia 2F 7 1 5 2004-07-19 Q92859 NEO1_HUMAN NEO1 Neogenin 1461 160 15 Cell membrane 1 0 7 1 5 2000-12-01 Q969H0 FBXW7_HUMAN FBXW7 F-box/WD repeat-containing protein 7 707 79.7 4 Nucleus; Chromosome 0 1 Developmental delay, hypotonia, and impaired language 7 1 5 2004-03-01 Q96AE4 FUBP1_HUMAN FUBP1 Far upstream element-binding protein 1 644 67.6 1 Nucleus 0 0 7 1 5 2003-09-26 Q96NN9 AIFM3_HUMAN AIFM3 Apoptosis-inducing factor 3 605 66.8 22 1.-.-.- Mitochondrion 0 0 7 1 5 2006-10-31 Q99741 CDC6_HUMAN CDC6 DNA replication factor CDC6 560 62.7 17 Nucleus; Cytoplasm 0 1 Meier-Gorlin syndrome 5 7 1 5 2004-07-19 Q9BYT8 NEUL_HUMAN NLN Neurolysin, mitochondrial 704 80.7 5 3.4.24.16 Mitochondrion intermembrane space; Cytoplasm 0 0 7 1 5 2002-03-27 Q9C005 DPY30_HUMAN DPY30 Protein dpy-30 homolog 99 11.3 2 Nucleus; Golgi apparatus 0 0 7 1 5 2001-07-11 Q9HB96 FANCE_HUMAN FANCE Fanconi anemia group E protein 536 58.7 6 Nucleus 0 1 Fanconi anemia complementation group E 7 1 5 2004-03-15 Q9HCU8 DPOD4_HUMAN POLD4 DNA polymerase delta subunit 4 107 12.4 11 Nucleus 0 0 7 1 5 2001-09-26 Q9NP55 BPIA1_HUMAN BPIFA1 BPI fold-containing family A member 1 256 26.7 20 Secreted 0 0 7 1 5 2001-10-18 Q9NPE3 NOP10_HUMAN NOP10 H/ACA ribonucleoprotein complex subunit 3 64 7.7 15 Nucleus 0 3 Dyskeratosis congenita, autosomal recessive, 1; Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2; Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 9 7 1 5 2004-10-11 Q9NWW6 NRK1_HUMAN NMRK1 Nicotinamide riboside kinase 1 199 23.2 9 2.7.1.22 0 0 7 1 5 2004-07-19 Q9NYY3 PLK2_HUMAN PLK2 Serine/threonine-protein kinase PLK2 685 78.2 5 2.7.11.21 Cytoplasm; Cell projection 0 0 7 1 5 2001-01-11 Q9NZJ4 SACS_HUMAN SACS Sacsin 4579 521.1 13 Cytoplasm 0 1 Spastic ataxia Charlevoix-Saguenay type 7 1 5 2001-02-21 Q9UHP3 UBP25_HUMAN USP25 Ubiquitin carboxyl-terminal hydrolase 25 1055 122.2 21 3.4.19.12 Cytoplasm 0 1 Epilepsy, idiopathic generalized 19 7 1 5 2000-05-30 Q9UJM3 ERRFI_HUMAN ERRFI1 ERBB receptor feedback inhibitor 1 462 50.6 1 Cytoplasm; Cell membrane; Nucleus 0 0 7 1 5 2003-01-27 Q9ULV8 CBLC_HUMAN CBLC E3 ubiquitin-protein ligase CBL-C 474 52.5 19 2.3.2.27 0 0 7 1 5 2000-12-01 O15037 KHNYN_HUMAN KHNYN Protein KHNYN 678 74.5 14 0 0 7 1 4 2005-03-29 O43414 ERI3_HUMAN ERI3 ERI1 exoribonuclease 3 337 37.2 1 3.1.-.- 0 0 7 1 4 2008-03-18 O95178 NDUB2_HUMAN NDUFB2 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial 105 12.1 7 Mitochondrion inner membrane 0 0 7 1 4 1999-07-15 Q9NVU7 SDA1_HUMAN SDAD1 Protein SDA1 homolog 687 79.9 4 Nucleus 0 0 7 1 4 2007-05-15 Q68DU8 KCD16_HUMAN KCTD16 BTB/POZ domain-containing protein KCTD16 428 49.1 5 Presynaptic cell membrane; Postsynaptic cell membrane 0 0 7 1 4 2006-09-05 Q9Y2T5 GPR52_HUMAN GPR52 G protein-coupled receptor 52 361 41.4 1 Cell membrane 7 0 7 1 4 2000-12-01 O43677 NDUC1_HUMAN NDUFC1 NADH dehydrogenase [ubiquinone] 1 subunit C1, mitochondrial 76 8.7 4 Mitochondrion inner membrane 1 0 7 1 4 1999-07-15 O95168 NDUB4_HUMAN NDUFB4 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 129 15.2 3 Mitochondrion inner membrane 1 0 7 1 4 1999-07-15 P07311 ACYP1_HUMAN ACYP1 Acylphosphatase-1 99 11.3 14 3.6.1.7 0 0 7 1 4 1988-04-01 A0A1B0GX56 TRDV1_HUMAN TRDV1 T cell receptor delta variable 1 115 13 14 Cell membrane 0 0 7 1 3 2018-12-05 A0A0B4J2E0 TVBL4_HUMAN TRBV12-4 T cell receptor beta variable 12-4 115 13 7 Cell membrane 0 0 7 1 3 2018-05-23 Q9UNZ5 L10K_HUMAN C19orf53 Leydig cell tumor 10 kDa protein homolog 99 10.6 19 0 0 7 1 2 2001-11-02 O14939 PLD2_HUMAN PLD2 Phospholipase D2 933 106 17 3.1.4.4 Cell membrane 0 0 6 1 5 2001-02-21 O15263 DFB4A_HUMAN DEFB4A Defensin beta 4A 64 7 8 Secreted 0 0 6 1 5 1998-07-15 O43143 DHX15_HUMAN DHX15 ATP-dependent RNA helicase DHX15 795 90.9 4 3.6.4.13 Nucleus 0 0 6 1 5 1998-12-15 O43715 TRIA1_HUMAN TRIAP1 TP53-regulated inhibitor of apoptosis 1 76 8.8 12 Mitochondrion; Mitochondrion intermembrane space 0 0 6 1 5 2000-12-01 O60784 TOM1_HUMAN TOM1 Target of Myb1 membrane trafficking protein 492 53.8 22 Cytoplasm; Endosome membrane; Early endosome membrane 0 1 Immunodeficiency 85 6 1 5 2002-11-15 O75175 CNOT3_HUMAN CNOT3 CCR4-NOT transcription complex subunit 3 753 81.9 19 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder with speech delay, autism and dysmorphic facies 6 1 5 2004-04-13 P02774 VTDB_HUMAN GC Vitamin D-binding protein 474 52.9 4 Secreted 0 0 6 1 5 1986-07-21 P04844 RPN2_HUMAN RPN2 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 631 69.3 20 Endoplasmic reticulum; Endoplasmic reticulum membrane 3 0 6 1 5 1987-08-13 P11441 UBL4A_HUMAN UBL4A Ubiquitin-like protein 4A 157 17.8 X Cytoplasm; Nucleus 0 0 6 1 5 1989-10-01 P15428 PGDH_HUMAN HPGD 15-hydroxyprostaglandin dehydrogenase [NAD(+)] 266 29 4 1.1.1.141 Cytoplasm 0 3 Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; Cranioosteoarthropathy; Digital clubbing, isolated congenital 6 1 5 1990-04-01 P17252 KPCA_HUMAN PRKCA Protein kinase C alpha type 672 76.8 17 2.7.11.13 Cytoplasm; Cell membrane; Mitochondrion membrane; Nucleus 0 0 6 1 5 1990-08-01 P20815 CP3A5_HUMAN CYP3A5 Cytochrome P450 3A5 502 57.1 7 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 6 1 5 1991-02-01 P20823 HNF1A_HUMAN HNF1A Hepatocyte nuclear factor 1-alpha 631 67.4 12 Nucleus 0 3 Hepatic adenomas familial; Maturity-onset diabetes of the young 3; Type 1 diabetes mellitus 20 6 1 5 1991-02-01 P21583 SCF_HUMAN KITLG Kit ligand 273 30.9 12 Cell membrane 1 3 Hyperpigmentation with or without hypopigmentation, familial progressive; Deafness, congenital, unilateral or asymmetric; Waardenburg syndrome 2F 6 1 5 1991-05-01 P25929 NPY1R_HUMAN NPY1R Neuropeptide Y receptor type 1 384 44.4 4 Cell membrane 7 0 6 1 5 1992-05-01 P28340 DPOD1_HUMAN POLD1 DNA polymerase delta catalytic subunit 1107 123.6 19 2.7.7.7 Nucleus 0 3 Colorectal cancer 10; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome; Immunodeficiency 120 6 1 5 1992-12-01 P30307 MPIP3_HUMAN CDC25C M-phase inducer phosphatase 3 473 53.4 5 3.1.3.48 Nucleus 0 0 6 1 5 1993-04-01 P35232 PHB1_HUMAN PHB1 Prohibitin 1 272 29.8 17 Mitochondrion inner membrane; Nucleus; Cytoplasm; Cell membrane 0 0 6 1 5 1994-02-01 P35462 DRD3_HUMAN DRD3 Dopamine receptor D3 400 44.2 3 Cell membrane 7 2 Tremor, hereditary essential 1; Schizophrenia 6 1 5 1994-06-01 P41240 CSK_HUMAN CSK Tyrosine-protein kinase CSK 450 50.7 15 2.7.10.4 Cytoplasm; Cell membrane 0 0 6 1 5 1995-02-01 P41968 MC3R_HUMAN MC3R Melanocortin receptor 3 323 36 20 Cell membrane 7 0 6 1 5 1995-11-01 P45973 CBX5_HUMAN CBX5 Chromobox protein homolog 5 191 22.2 12 Nucleus; Chromosome 0 0 6 1 5 1995-11-01 P46109 CRKL_HUMAN CRKL Crk-like protein 303 33.8 22 0 0 6 1 5 1995-11-01 P49771 FLT3L_HUMAN FLT3LG Fms-related tyrosine kinase 3 ligand 235 26.4 19 Cell membrane 1 1 Immunodeficiency 125 6 1 5 1996-10-01 P51813 BMX_HUMAN BMX Cytoplasmic tyrosine-protein kinase BMX 675 78 X 2.7.10.2 Cytoplasm 0 0 6 1 5 1996-10-01 P55196 AFAD_HUMAN AFDN Afadin 1824 206.8 6 Cell junction 0 0 6 1 5 1996-10-01 P59666 DEF3_HUMAN DEFA3 Neutrophil defensin 3 94 10.2 8 Secreted 0 0 6 1 5 2003-04-30 P60763 RAC3_HUMAN RAC3 Ras-related C3 botulinum toxin substrate 3 192 21.4 17 3.6.5.2 Cytoplasm; Endomembrane system; Cell projection; Cell membrane 0 1 Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 6 1 5 2004-04-13 P78406 RAE1L_HUMAN RAE1 mRNA export factor RAE1 368 41 20 Cytoplasm; Nucleus; Nucleus envelope 0 0 6 1 5 1998-07-15 P83916 CBX1_HUMAN CBX1 Chromobox protein homolog 1 185 21.4 17 Nucleus 0 0 6 1 5 2004-06-07 Q01668 CAC1D_HUMAN CACNA1D Voltage-dependent L-type calcium channel subunit alpha-1D 2161 245.1 3 Membrane 24 2 Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities 6 1 5 1999-07-15 Q01974 ROR2_HUMAN ROR2 Tyrosine-protein kinase transmembrane receptor ROR2 943 104.8 9 2.7.10.1 Cell membrane 1 2 Brachydactyly B1; Robinow syndrome, autosomal recessive 1 6 1 5 2001-04-27 Q07108 CD69_HUMAN CD69 Early activation antigen CD69 199 22.6 12 Cell membrane 1 0 6 1 5 1994-10-01 Q13325 IFIT5_HUMAN IFIT5 Interferon-induced protein with tetratricopeptide repeats 5 482 55.8 10 Cell projection 0 0 6 1 5 2000-05-30 Q13489 BIRC3_HUMAN BIRC3 Baculoviral IAP repeat-containing protein 3 604 68.4 11 2.3.2.27 Cytoplasm; Nucleus 0 0 6 1 5 1997-11-01 Q13586 STIM1_HUMAN STIM1 Stromal interaction molecule 1 685 77.4 11 Cell membrane; Endoplasmic reticulum membrane; Cytoplasm; Sarcoplasmic reticulum 1 3 Immunodeficiency 10; Myopathy, tubular aggregate, 1; Stormorken syndrome 6 1 5 2001-11-02 Q13867 BLMH_HUMAN BLMH Bleomycin hydrolase 455 52.6 17 3.4.22.40 Cytoplasm; Cytoplasmic granule 0 0 6 1 5 1998-07-15 Q14392 LRC32_HUMAN LRRC32 Transforming growth factor beta activator LRRC32 662 72 11 Cell membrane; Cell surface 1 1 Cleft palate, proliferative retinopathy, and developmental delay 6 1 5 1997-11-01 Q14995 NR1D2_HUMAN NR1D2 Nuclear receptor subfamily 1 group D member 2 579 64.6 3 Nucleus; Cytoplasm 0 0 6 1 5 1999-07-15 Q15276 RABE1_HUMAN RABEP1 Rab GTPase-binding effector protein 1 862 99.3 17 Cytoplasm; Early endosome; Recycling endosome; Cytoplasmic vesicle 0 0 6 1 5 2004-05-24 Q15435 PP1R7_HUMAN PPP1R7 Protein phosphatase 1 regulatory subunit 7 360 41.6 2 Nucleus 0 0 6 1 5 2006-06-13 Q15645 PCH2_HUMAN TRIP13 Pachytene checkpoint protein 2 homolog 432 48.6 5 0 2 Mosaic variegated aneuploidy syndrome 3; Oocyte/zygote/embryo maturation arrest 9 6 1 5 1997-11-01 Q15813 TBCE_HUMAN TBCE Tubulin-specific chaperone E 527 59.3 1 Cytoplasm 0 3 Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome 1; Encephalopathy, progressive, with amyotrophy and optic atrophy 6 1 5 2006-02-07 Q16849 PTPRN_HUMAN PTPRN Receptor-type tyrosine-protein phosphatase-like N 979 105.8 2 Membrane; Cytoplasmic vesicle; Perikaryon; Cell projection; Synapse; Cell membrane; Endosome 1 0 6 1 5 1997-11-01 Q496J9 SV2C_HUMAN SV2C Synaptic vesicle glycoprotein 2C 727 82.3 5 Cytoplasmic vesicle 12 0 6 1 5 2006-06-13 Q5JUK3 KCNT1_HUMAN KCNT1 Potassium channel subfamily T member 1 1230 138.3 9 Cell membrane 6 2 Developmental and epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 6 1 5 2005-08-30 Q5TA50 CPTP_HUMAN CPTP Ceramide-1-phosphate transfer protein 214 24.4 1 Cytoplasm; Golgi apparatus; Cell membrane; Endosome membrane; Nucleus outer membrane 0 0 6 1 5 2008-02-05 Q6DN90 IQEC1_HUMAN IQSEC1 IQ motif and SEC7 domain-containing protein 1 963 108.3 3 Cytoplasm; Nucleus; Postsynaptic density; Cytoplasmic vesicle 0 1 Intellectual developmental disorder with short stature and behavioral abnormalities 6 1 5 2006-07-11 Q6ZMT4 KDM7A_HUMAN KDM7A Lysine-specific demethylase 7A 941 106.6 7 Nucleus 0 0 6 1 5 2006-03-07 Q86YL7 PDPN_HUMAN PDPN Podoplanin 162 16.7 1 Membrane; Cell projection; Membrane raft; Apical cell membrane; Basolateral cell membrane 1 0 6 1 5 2006-02-21 Q86YT6 MIB1_HUMAN MIB1 E3 ubiquitin-protein ligase MIB1 1006 110.1 18 2.3.2.27 Cytoplasm; Cell membrane 0 1 Left ventricular non-compaction 7 6 1 5 2005-07-05 Q8N8N7 PTGR2_HUMAN PTGR2 Prostaglandin reductase 2 351 38.5 14 1.3.1.48 Cytoplasm 0 0 6 1 5 2005-04-26 Q8NCM2 KCNH5_HUMAN KCNH5 Voltage-gated delayed rectifier potassium channel KCNH5 988 111.9 14 Membrane 6 1 Developmental and epileptic encephalopathy 112 6 1 5 2002-11-28 Q8ND04 SMG8_HUMAN SMG8 Nonsense-mediated mRNA decay factor SMG8 991 109.7 17 0 1 Alzahrani-Kuwahara syndrome 6 1 5 2007-10-02 Q8TAT6 NPL4_HUMAN NPLOC4 Nuclear protein localization protein 4 homolog 608 68.1 17 Cytoplasm; Endoplasmic reticulum; Nucleus 0 0 6 1 5 2004-03-29 Q8WUI4 HDAC7_HUMAN HDAC7 Histone deacetylase 7 952 102.9 12 3.5.1.98 Nucleus; Cytoplasm 0 0 6 1 5 2003-05-16 Q92945 FUBP2_HUMAN KHSRP Far upstream element-binding protein 2 711 73.1 19 Nucleus; Cytoplasm 0 0 6 1 5 2003-09-26 Q96A83 COQA1_HUMAN COL26A1 Collagen alpha-1(XXVI) chain 441 45.4 7 Secreted 0 0 6 1 5 2003-10-03 Q96F86 EDC3_HUMAN EDC3 Enhancer of mRNA-decapping protein 3 508 56.1 15 Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 50 6 1 5 2005-11-22 Q99759 M3K3_HUMAN MAP3K3 Mitogen-activated protein kinase kinase kinase 3 626 70.9 17 2.7.11.25 0 1 Cerebral cavernous malformations 5 6 1 5 1997-11-01 Q9BTP7 FAP24_HUMAN FAAP24 Fanconi anemia core complex-associated protein 24 215 23.9 19 Nucleus 0 0 6 1 5 2007-01-09 Q9GZV9 FGF23_HUMAN FGF23 Fibroblast growth factor 23 251 28 12 Secreted 0 2 Hypophosphatemic rickets, autosomal dominant; Tumoral calcinosis, hyperphosphatemic, familial, 2 6 1 5 2001-04-27 Q9GZX6 IL22_HUMAN IL22 Interleukin-22 179 20 12 Secreted 0 0 6 1 5 2001-11-16 Q9HCK4 ROBO2_HUMAN ROBO2 Roundabout homolog 2 1378 151.2 3 Membrane 1 1 Vesicoureteral reflux 2 6 1 5 2004-06-21 Q9NQC7 CYLD_HUMAN CYLD Ubiquitin carboxyl-terminal hydrolase CYLD 956 107.3 16 3.4.19.12 Cytoplasm; Cell membrane 0 4 Cylindromatosis, familial; Trichoepithelioma, multiple familial, 1; Brooke-Spiegler syndrome; Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 6 1 5 2004-08-16 Q9NZ52 GGA3_HUMAN GGA3 ADP-ribosylation factor-binding protein GGA3 723 78.3 17 Golgi apparatus; Endosome membrane; Early endosome membrane; Recycling endosome membrane 0 0 6 1 5 2001-06-20 Q9ULC3 RAB23_HUMAN RAB23 Ras-related protein Rab-23 237 26.7 6 3.6.5.2 Cell membrane; Cytoplasm; Cytoplasmic vesicle; Endosome membrane 0 1 Carpenter syndrome 1 6 1 5 2001-01-11 Q9Y5Z4 HEBP2_HUMAN HEBP2 Heme-binding protein 2 205 22.9 6 Cytoplasm; Mitochondrion 0 0 6 1 5 2006-01-24 O14862 AIM2_HUMAN AIM2 Interferon-inducible protein AIM2 343 39 1 Cytoplasm; Inflammasome; Nucleus 0 0 6 1 5 1999-07-15 O15054 KDM6B_HUMAN KDM6B Lysine-specific demethylase 6B 1643 176.6 17 1.14.11.68 Nucleus 0 1 Stolerman neurodevelopmental syndrome 6 1 5 2007-06-26 O15287 FANCG_HUMAN FANCG Fanconi anemia group G protein 622 68.6 9 Nucleus; Cytoplasm 0 1 Fanconi anemia complementation group G 6 1 5 1999-07-15 O60239 3BP5_HUMAN SH3BP5 SH3 domain-binding protein 5 455 50.4 3 Cytoplasmic vesicle membrane; Mitochondrion 0 0 6 1 5 2002-01-23 O60931 CTNS_HUMAN CTNS Cystinosin 367 41.7 17 Lysosome membrane; Melanosome membrane 7 3 Cystinosis, nephropathic type; Cystinosis, adult, non-nephropathic type; Cystinosis, late-onset juvenile or adolescent nephropathic type 6 1 5 2001-02-21 O75015 FCG3B_HUMAN FCGR3B Low affinity immunoglobulin gamma Fc region receptor III-B 233 26.2 1 Cell membrane; Secreted 0 0 6 1 5 2000-05-30 P01593 KVD33_HUMAN IGKV1D-33 Immunoglobulin kappa variable 1D-33 117 12.8 2 Secreted; Cell membrane 0 0 6 1 5 1986-07-21 P01860 IGHG3_HUMAN IGHG3 Immunoglobulin heavy constant gamma 3 446 49.1 14 Secreted 1 0 6 1 5 1986-07-21 P04839 CY24B_HUMAN CYBB NADPH oxidase 2 570 65.3 X 1.6.3.- Cell membrane 6 2 Granulomatous disease, chronic, X-linked; Immunodeficiency 34 6 1 5 1987-08-13 P06703 S10A6_HUMAN S100A6 Protein S100-A6 90 10.2 1 Nucleus envelope; Cytoplasm; Cell membrane 0 0 6 1 5 1988-01-01 P08575 PTPRC_HUMAN PTPRC Receptor-type tyrosine-protein phosphatase C 1306 147.5 1 3.1.3.48 Cell membrane; Membrane raft; Synapse 1 2 Multiple sclerosis; Immunodeficiency 105, severe combined 6 1 5 1988-08-01 P10398 ARAF_HUMAN ARAF Serine/threonine-protein kinase A-Raf 606 67.6 X 2.7.11.1 0 0 6 1 5 1988-04-01 P11277 SPTB1_HUMAN SPTB Spectrin beta chain, erythrocytic 2137 246.5 14 Cytoplasm 0 2 Elliptocytosis 3; Spherocytosis 2 6 1 5 1989-07-01 P11532 DMD_HUMAN DMD Dystrophin 3685 426.8 X Cell membrane; Cytoplasm; Postsynaptic cell membrane 0 3 Duchenne muscular dystrophy; Becker muscular dystrophy; Cardiomyopathy, dilated, 3B 6 1 5 1989-10-01 P13645 K1C10_HUMAN KRT10 Keratin, type I cytoskeletal 10 584 58.8 17 Secreted; Cell surface; Cytoplasm 0 5 Epidermolytic hyperkeratosis 2A; Epidermolytic hyperkeratosis 2B, autosomal recessive; Ichthyosis, annular epidermolytic, 1; Ichthyosis with confetti; Ichthyosis histrix, Lambert type 6 1 5 1990-01-01 P18627 LAG3_HUMAN LAG3 Lymphocyte activation gene 3 protein 525 57.4 12 Cell membrane 1 0 6 1 5 1990-11-01 P21731 TA2R_HUMAN TBXA2R Thromboxane A2 receptor 343 37.4 19 Cell membrane 7 1 Bleeding disorder, platelet-type, 13 6 1 5 1991-05-01 P25021 HRH2_HUMAN HRH2 Histamine H2 receptor 359 40.1 5 Cell membrane 7 0 6 1 5 1992-05-01 P30038 AL4A1_HUMAN ALDH4A1 Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial 563 61.7 1 1.2.1.88 Mitochondrion matrix 0 1 Hyperprolinemia 2 6 1 5 1993-04-01 P30084 ECHM_HUMAN ECHS1 Enoyl-CoA hydratase, mitochondrial 290 31.4 10 4.2.1.17, 5.3.3.8 Mitochondrion matrix 0 1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 6 1 5 1993-04-01 P33681 CD80_HUMAN CD80 T-lymphocyte activation antigen CD80 288 33 3 Cell membrane 1 0 6 1 5 1994-02-01 P35659 DEK_HUMAN DEK Protein DEK 375 42.7 6 Nucleus 0 0 6 1 5 1994-06-01 P41226 UBA7_HUMAN UBA7 Ubiquitin-like modifier-activating enzyme 7 1012 111.7 3 6.2.1.- Cytoplasm; Nucleus 0 0 6 1 5 1995-02-01 P48029 SC6A8_HUMAN SLC6A8 Sodium- and chloride-dependent creatine transporter 1 635 70.5 X Cell membrane; Apical cell membrane 12 1 Cerebral creatine deficiency syndrome 1 6 1 5 1996-02-01 P50402 EMD_HUMAN EMD Emerin 254 29 X Nucleus inner membrane; Nucleus outer membrane 1 2 Emery-Dreifuss muscular dystrophy 1, X-linked; Cardiomyopathy, dilated, 3C 6 1 5 1996-10-01 P51685 CCR8_HUMAN CCR8 C-C chemokine receptor type 8 355 40.8 3 Cell membrane 7 0 6 1 5 1996-10-01 P51965 UB2E1_HUMAN UBE2E1 Ubiquitin-conjugating enzyme E2 E1 193 21.4 3 2.3.2.23 Nucleus 0 0 6 1 5 1996-10-01 P52803 EFNA5_HUMAN EFNA5 Ephrin-A5 228 26.3 5 Cell membrane; Membrane 0 0 6 1 5 1996-10-01 P53999 TCP4_HUMAN SUB1 Activated RNA polymerase II transcriptional coactivator p15 127 14.4 5 Nucleus 0 0 6 1 5 1996-10-01 P55010 IF5_HUMAN EIF5 Eukaryotic translation initiation factor 5 431 49.2 14 Cytoplasm 0 0 6 1 5 1996-10-01 P55089 UCN1_HUMAN UCN Urocortin 124 13.5 2 Secreted 0 0 6 1 5 1996-10-01 P55197 AF10_HUMAN MLLT10 Protein AF-10 1068 113.3 10 Nucleus 0 0 6 1 5 1996-10-01 P98175 RBM10_HUMAN RBM10 RNA-binding protein 10 930 103.5 X Nucleus 0 1 TARP syndrome 6 1 5 1996-10-01 Q04724 TLE1_HUMAN TLE1 Transducin-like enhancer protein 1 770 83.2 9 Nucleus 0 0 6 1 5 1994-02-01 Q0VG06 FP100_HUMAN FAAP100 Fanconi anemia core complex-associated protein 100 881 93.4 17 Nucleus 0 1 Fanconi anemia, complementation group X 6 1 5 2007-05-29 Q13285 STF1_HUMAN NR5A1 Steroidogenic factor 1 461 51.6 9 Nucleus 0 5 46,XY sex reversal 3; 46,XX sex reversal 4; Adrenal insufficiency, NR5A1-related; Premature ovarian failure 7; Spermatogenic failure 8 6 1 5 1998-07-15 Q13291 SLAF1_HUMAN SLAMF1 Signaling lymphocytic activation molecule 335 37.2 1 Cell membrane 1 0 6 1 5 2000-12-01 Q13625 ASPP2_HUMAN TP53BP2 Apoptosis-stimulating of p53 protein 2 1128 125.6 1 Cytoplasm; Nucleus 0 0 6 1 5 1998-07-15 Q15399 TLR1_HUMAN TLR1 Toll-like receptor 1 786 90.3 4 Cell membrane; Cytoplasmic vesicle; Membrane raft; Golgi apparatus 1 0 6 1 5 2002-01-31 Q7Z7L7 ZER1_HUMAN ZER1 Protein zer-1 homolog 766 88.2 9 0 0 6 1 5 2005-07-05 Q8IYM2 SLN12_HUMAN SLFN12 Ribonuclease SLFN12 578 67 17 3.1.-.- Nucleus; Cytoplasm 0 0 6 1 5 2007-04-03 Q8TDS7 MRGRD_HUMAN MRGPRD Mas-related G protein-coupled receptor member D 321 36.1 11 Cell membrane 7 0 6 1 5 2004-07-19 Q8TEP8 CE192_HUMAN CEP192 Centrosomal protein of 192 kDa 2537 279.1 18 Cytoplasm 0 0 6 1 5 2007-12-04 Q93063 EXT2_HUMAN EXT2 Exostosin-2 718 82.3 11 2.4.1.224 Golgi apparatus membrane; Golgi apparatus; Endoplasmic reticulum membrane; Secreted 1 2 Hereditary multiple exostoses 2; Seizures, scoliosis, and macrocephaly/microcephaly syndrome 6 1 5 1998-07-15 Q96E11 RRFM_HUMAN MRRF Ribosome-recycling factor, mitochondrial 262 29.3 9 Mitochondrion 0 0 6 1 5 2005-04-26 Q96E14 RMI2_HUMAN RMI2 RecQ-mediated genome instability protein 2 147 15.9 16 Nucleus 0 0 6 1 5 2007-08-21 Q96EP1 CHFR_HUMAN CHFR E3 ubiquitin-protein ligase CHFR 664 73.4 12 2.3.2.27 Nucleus 0 0 6 1 5 2004-02-02 Q96I99 SUCB2_HUMAN SUCLG2 Succinate--CoA ligase [GDP-forming] subunit beta, mitochondrial 432 46.5 3 6.2.1.4 Mitochondrion 0 0 6 1 5 2002-05-27 Q96P70 IPO9_HUMAN IPO9 Importin-9 1041 116 1 Cytoplasm; Nucleus 0 0 6 1 5 2004-02-02 Q96S44 PRPK_HUMAN TP53RK EKC/KEOPS complex subunit TP53RK 253 28.2 20 3.6.-.- Cytoplasm; Nucleus 0 1 Galloway-Mowat syndrome 4 6 1 5 2002-12-06 Q99570 PI3R4_HUMAN PIK3R4 Phosphoinositide 3-kinase regulatory subunit 4 1358 153.1 3 2.7.11.1 Late endosome; Cytoplasmic vesicle; Membrane 0 0 6 1 5 2005-12-06 Q9BRQ8 FSP1_HUMAN AIFM2 Ferroptosis suppressor protein 1 373 40.5 10 1.6.5.- Lipid droplet; Cell membrane; Cytoplasm; Mitochondrion membrane; Nucleus 1 0 6 1 5 2006-05-30 Q9BRX2 PELO_HUMAN PELO Protein pelota homolog 385 43.4 5 Cytoplasm 0 0 6 1 5 2004-10-11 Q9BSV6 SEN34_HUMAN TSEN34 tRNA-splicing endonuclease subunit Sen34 310 33.7 19 4.6.1.16 Nucleus 0 1 Pontocerebellar hypoplasia 2C 6 1 5 2004-07-19 Q9BZE2 PUS3_HUMAN PUS3 tRNA pseudouridine(38/39) synthase 481 55.6 11 5.4.99.45 Nucleus 0 1 Neurodevelopmental disorder with microcephaly and gray sclerae 6 1 5 2004-09-27 Q9GZX9 TWSG1_HUMAN TWSG1 Twisted gastrulation protein homolog 1 223 25 18 Secreted 0 0 6 1 5 2007-03-06 Q9H211 CDT1_HUMAN CDT1 DNA replication factor Cdt1 546 60.4 16 Nucleus; Chromosome 0 1 Meier-Gorlin syndrome 4 6 1 5 2004-12-07 Q9H6S0 YTDC2_HUMAN YTHDC2 3'-5' RNA helicase YTHDC2 1430 160.2 5 3.6.4.13 Cytoplasm 0 0 6 1 5 2006-09-05 Q9HC77 CPAP_HUMAN CPAP Centrosomal P4.1-associated protein 1338 153 13 Cytoplasm 0 2 Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 6 1 5 2005-04-26 Q9NQP4 PFD4_HUMAN PFDN4 Prefoldin subunit 4 134 15.3 20 Nucleus; Cytoplasm; Mitochondrion 0 0 6 1 5 2001-01-11 Q9NRK6 ABCBA_HUMAN ABCB10 ATP-binding cassette sub-family B member 10, mitochondrial 738 79.1 1 Mitochondrion inner membrane 6 0 6 1 5 2002-08-02 Q9NRM0 GTR9_HUMAN SLC2A9 Solute carrier family 2, facilitated glucose transporter member 9 540 58.7 4 Cell membrane; Basolateral cell membrane 12 1 Hypouricemia renal 2 6 1 5 2001-11-16 Q9NVS9 PNPO_HUMAN PNPO Pyridoxine-5'-phosphate oxidase 261 30 17 1.4.3.5 0 1 Pyridoxine-5'-phosphate oxidase deficiency 6 1 5 2003-09-26 Q9NXL9 MCM9_HUMAN MCM9 DNA helicase MCM9 1143 127.3 6 5.6.2.4 Nucleus; Chromosome 0 1 Ovarian dysgenesis 4 6 1 5 2005-07-05 Q9NZN9 AIPL1_HUMAN AIPL1 Aryl-hydrocarbon-interacting protein-like 1 384 43.9 17 Cytoplasm; Nucleus 0 1 Leber congenital amaurosis 4 6 1 5 2001-01-11 Q9NZZ3 CHMP5_HUMAN CHMP5 Charged multivesicular body protein 5 219 24.6 9 Cytoplasm; Endosome membrane; Midbody 0 0 6 1 5 2004-08-31 Q9P0N9 TBCD7_HUMAN TBC1D7 TBC1 domain family member 7 293 34 6 Lysosome membrane; Cytoplasmic vesicle; Cytoplasm 0 1 Macrocephaly/megalencephaly syndrome, autosomal recessive 6 1 5 2003-10-03 Q9P2I0 CPSF2_HUMAN CPSF2 Cleavage and polyadenylation specificity factor subunit 2 782 88.5 14 Nucleus 0 0 6 1 5 2001-10-18 Q9UEF7 KLOT_HUMAN KL Klotho 1012 116.2 13 3.2.1.31 Cell membrane; Apical cell membrane 1 1 Tumoral calcinosis, hyperphosphatemic, familial, 3 6 1 5 2005-10-11 Q9UGM3 DMBT1_HUMAN DMBT1 Scavenger receptor cysteine-rich domain-containing protein DMBT1 2413 260.7 10 Secreted 0 1 Glioma 6 1 5 2006-01-10 Q9UKJ1 PILRA_HUMAN PILRA Paired immunoglobulin-like type 2 receptor alpha 303 34 7 Cell membrane 1 0 6 1 5 2006-03-07 Q9ULG1 INO80_HUMAN INO80 Chromatin-remodeling ATPase INO80 1556 176.8 15 3.6.4.- Cytoplasm; Nucleus; Chromosome 0 0 6 1 5 2006-09-05 Q9ULI0 ATD2B_HUMAN ATAD2B ATPase family AAA domain-containing protein 2B 1458 164.9 2 Nucleus 0 0 6 1 5 2001-06-20 Q9Y239 NOD1_HUMAN NOD1 Nucleotide-binding oligomerization domain-containing protein 1 953 107.7 7 Cell membrane; Apical cell membrane; Basolateral cell membrane; Cytoplasm 0 0 6 1 5 2002-01-31 Q9Y3D8 KAD6_HUMAN AK6 Adenylate kinase isoenzyme 6 172 20.1 5 2.7.4.3 Cytoplasm; Nucleus 0 0 6 1 5 2000-05-30 Q9Y3E7 CHMP3_HUMAN CHMP3 Charged multivesicular body protein 3 222 25.1 2 Cytoplasm; Membrane; Endosome; Late endosome membrane 0 0 6 1 5 2005-08-30 Q9Y5L0 TNPO3_HUMAN TNPO3 Transportin-3 923 104.2 7 Nucleus envelope; Cytoplasm 0 1 Muscular dystrophy, limb-girdle, autosomal dominant 2 6 1 5 2004-08-16 O00178 GTPB1_HUMAN GTPBP1 GTP-binding protein 1 669 72.5 22 3.6.5.3 Cytoplasm 0 1 Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 6 1 5 2000-05-30 O15123 ANGP2_HUMAN ANGPT2 Angiopoietin-2 496 56.9 8 Secreted 0 1 Lymphatic malformation 10 6 1 5 2000-12-01 O15360 FANCA_HUMAN FANCA Fanconi anemia group A protein 1455 162.8 16 Nucleus; Cytoplasm 0 1 Fanconi anemia, complementation group A 6 1 5 2000-12-01 O43324 MCA3_HUMAN EEF1E1 Eukaryotic translation elongation factor 1 epsilon-1 174 19.8 6 Cytoplasm; Nucleus 0 0 6 1 5 2001-10-18 O43424 GRID2_HUMAN GRID2 Glutamate receptor ionotropic, delta-2 1007 113.4 4 Postsynaptic cell membrane 3 1 Spinocerebellar ataxia, autosomal recessive, 18 6 1 5 2002-11-15 O43776 SYNC_HUMAN NARS1 Asparagine--tRNA ligase, cytoplasmic 548 62.9 18 6.1.1.22 Cytoplasm 0 2 Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 6 1 5 1998-12-15 O43813 LANC1_HUMAN LANCL1 Glutathione S-transferase LANCL1 399 45.3 2 2.5.1.18 Cytoplasm; Cell membrane 0 0 6 1 5 2004-05-10 O60841 IF2P_HUMAN EIF5B Eukaryotic translation initiation factor 5B 1220 138.8 2 3.6.5.3 Cytoplasm 0 0 6 1 5 1998-12-15 O60925 PFD1_HUMAN PFDN1 Prefoldin subunit 1 122 14.2 5 0 0 6 1 5 2000-05-30 O75496 GEMI_HUMAN GMNN Geminin 209 23.6 6 Cytoplasm; Nucleus 0 1 Meier-Gorlin syndrome 6 6 1 5 2002-05-02 O75608 LYPA1_HUMAN LYPLA1 Acyl-protein thioesterase 1 230 24.7 8 3.1.2.- Cytoplasm; Cell membrane; Nucleus membrane; Endoplasmic reticulum 0 0 6 1 5 2004-01-16 O94886 TM63A_HUMAN TMEM63A Mechanosensitive cation channel TMEM63A 807 92.1 1 Lysosome membrane; Early endosome membrane; Cell membrane 11 1 Leukodystrophy, hypomyelinating, 19, transient infantile 6 1 5 2007-03-20 O95299 NDUAA_HUMAN NDUFA10 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial 355 40.8 2 Mitochondrion matrix 0 1 Mitochondrial complex I deficiency, nuclear type 22 6 1 5 1999-07-15 O95848 NUD14_HUMAN NUDT14 Uridine diphosphate glucose pyrophosphatase NUDT14 222 24.1 14 3.6.1.-, 3.6.1.13 Cytoplasm 0 0 6 1 5 2004-03-01 P01225 FSHB_HUMAN FSHB Follitropin subunit beta 129 14.7 11 Secreted 0 1 Hypogonadotropic hypogonadism 24 with or without anosmia 6 1 5 1986-07-21 P02686 MBP_HUMAN MBP Myelin basic protein 304 33.1 18 Myelin membrane 0 0 6 1 5 1986-07-21 P02778 CXL10_HUMAN CXCL10 C-X-C motif chemokine 10 98 10.9 4 Secreted 0 0 6 1 5 1986-07-21 P04792 HSPB1_HUMAN HSPB1 Heat shock protein beta-1 205 22.8 7 Cytoplasm; Nucleus 0 2 Charcot-Marie-Tooth disease, axonal, type 2F; Neuronopathy, distal hereditary motor, autosomal dominant 3 6 1 5 1987-08-13 P09234 RU1C_HUMAN SNRPC U1 small nuclear ribonucleoprotein C 159 17.4 6 Nucleus 0 0 6 1 5 1989-07-01 P10109 ADX_HUMAN FDX1 Adrenodoxin, mitochondrial 184 19.4 11 Mitochondrion matrix 0 0 6 1 5 1989-07-01 P11474 ERR1_HUMAN ESRRA Steroid hormone receptor ERR1 423 45.5 11 Nucleus; Cytoplasm 0 0 6 1 5 1989-10-01 P12111 CO6A3_HUMAN COL6A3 Collagen alpha-3(VI) chain 3177 343.7 2 Secreted 0 3 Bethlem myopathy 1C; Ullrich congenital muscular dystrophy 1C; Dystonia 27 6 1 5 1989-10-01 P39656 OST48_HUMAN DDOST Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit 456 50.8 1 Endoplasmic reticulum membrane 1 1 Congenital disorder of glycosylation 1R 6 1 5 1995-02-01 P42773 CDN2C_HUMAN CDKN2C Cyclin-dependent kinase 4 inhibitor C 168 18.1 1 0 0 6 1 5 1995-11-01 P43357 MAGA3_HUMAN MAGEA3 Melanoma-associated antigen 3 314 34.7 X 0 0 6 1 5 1995-11-01 P47898 5HT5A_HUMAN HTR5A 5-hydroxytryptamine receptor 5A 357 40.3 7 Cell membrane 7 0 6 1 5 1996-02-01 P48651 PTSS1_HUMAN PTDSS1 Phosphatidylserine synthase 1 473 55.5 8 2.7.8.29 Endoplasmic reticulum membrane 9 1 Lenz-Majewski hyperostotic dwarfism 6 1 5 1996-02-01 P49760 CLK2_HUMAN CLK2 Dual specificity protein kinase CLK2 499 60.1 1 2.7.12.1 Nucleus 0 0 6 1 5 1996-10-01 P61803 DAD1_HUMAN DAD1 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit DAD1 113 12.5 14 Endoplasmic reticulum membrane 3 0 6 1 5 2004-06-07 Q01344 IL5RA_HUMAN IL5RA Interleukin-5 receptor subunit alpha 420 47.7 3 Membrane 1 0 6 1 5 1993-07-01 Q06323 PSME1_HUMAN PSME1 Proteasome activator complex subunit 1 249 28.7 14 0 0 6 1 5 1995-11-01 Q12904 AIMP1_HUMAN AIMP1 Aminoacyl tRNA synthase complex-interacting multifunctional protein 1 312 34.4 4 Nucleus; Cytoplasm; Secreted; Endoplasmic reticulum; Golgi apparatus 0 1 Leukodystrophy, hypomyelinating, 3 6 1 5 2001-10-18 Q13237 KGP2_HUMAN PRKG2 cGMP-dependent protein kinase 2 762 87.4 4 2.7.11.12 Apical cell membrane 0 2 Spondylometaphyseal dysplasia, Pagnamenta type; Acromesomelic dysplasia 4 6 1 5 2000-05-30 Q13332 PTPRS_HUMAN PTPRS Receptor-type tyrosine-protein phosphatase S 1948 217 19 3.1.3.48 Cell membrane; Cell projection; Perikaryon; Cytoplasmic vesicle; Synapse; Postsynaptic density 1 0 6 1 5 2003-07-19 Q14019 COTL1_HUMAN COTL1 Coactosin-like protein 142 15.9 16 Cytoplasm; Nucleus 0 0 6 1 5 2002-07-11 Q14149 MORC3_HUMAN MORC3 MORC family CW-type zinc finger protein 3 939 107.1 21 Nucleus; Nucleus matrix; Chromosome 0 0 6 1 5 1997-11-01 Q14957 NMDE3_HUMAN GRIN2C Glutamate receptor ionotropic, NMDA 2C 1233 134.2 17 Cell membrane; Postsynaptic cell membrane 3 0 6 1 5 1997-11-01 Q15257 PTPA_HUMAN PTPA Serine/threonine-protein phosphatase 2A activator 358 40.7 9 5.2.1.8 Cytoplasm; Nucleus 0 1 Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development 6 1 5 2001-11-16 Q5TC82 RC3H1_HUMAN RC3H1 Roquin-1 1133 125.7 1 2.3.2.27 Cytoplasm; Cytoplasmic granule 0 1 Immune dysregulation and systemic hyperinflammation syndrome 6 1 5 2005-08-16 Q6N021 TET2_HUMAN TET2 Methylcytosine dioxygenase TET2 2002 223.8 4 1.14.11.80 Nucleus; Chromosome 0 3 Polycythemia vera; Myelodysplastic syndrome; Immunodeficiency 75 with lymphoproliferation 6 1 5 2008-03-18 Q6ZNE5 BAKOR_HUMAN ATG14 Beclin 1-associated autophagy-related key regulator 492 55.3 14 Cytoplasm; Endoplasmic reticulum membrane; Preautophagosomal structure membrane; Cytoplasmic vesicle 0 0 6 1 5 2005-06-07 Q7L1I2 SV2B_HUMAN SV2B Synaptic vesicle glycoprotein 2B 683 77.4 15 Cytoplasmic vesicle 12 0 6 1 5 2006-06-13 Q7L804 RFIP2_HUMAN RAB11FIP2 Rab11 family-interacting protein 2 512 58.3 10 Cell projection; Cell membrane; Recycling endosome membrane 0 0 6 1 5 2005-05-10 Q8IWT0 ARCH_HUMAN ZBTB8OS tRNA-splicing ligase-activating factor archease 167 19.5 1 2.7.7.- Cytoplasm; Nucleus 0 0 6 1 5 2007-05-01 Q8IXQ6 PARP9_HUMAN PARP9 Protein mono-ADP-ribosyltransferase PARP9 854 96.3 3 2.4.2.- Cytoplasm; Nucleus 0 0 6 1 5 2003-10-10 Q8IZY2 ABCA7_HUMAN ABCA7 Phospholipid-transporting ATPase ABCA7 2146 234.4 19 7.6.2.1 Cell membrane; Golgi apparatus membrane; Early endosome membrane; Cytoplasm; Cell projection 15 1 Alzheimer disease 9 6 1 5 2006-10-03 Q8N465 D2HDH_HUMAN D2HGDH D-2-hydroxyglutarate dehydrogenase, mitochondrial 521 56.4 2 1.1.99.39 Mitochondrion 0 1 D-2-hydroxyglutaric aciduria 1 6 1 5 2006-04-04 Q8NBL1 PGLT1_HUMAN POGLUT1 Protein O-glucosyltransferase 1 392 46.2 3 2.4.1.376 Endoplasmic reticulum lumen 0 2 Dowling-Degos disease 4; Muscular dystrophy, limb-girdle, autosomal recessive 21 6 1 5 2006-07-25 Q8NE35 CPEB3_HUMAN CPEB3 Cytoplasmic polyadenylation element-binding protein 3 698 76 10 Cytoplasm; Nucleus; Synapse; Cell projection; Postsynaptic density 0 0 6 1 5 2006-12-12 Q8TF42 UBS3B_HUMAN UBASH3B Ubiquitin-associated and SH3 domain-containing protein B 649 72.7 11 3.1.3.48 Cytoplasm; Nucleus 0 0 6 1 5 2006-07-11 Q92508 PIEZ1_HUMAN PIEZO1 Piezo-type mechanosensitive ion channel component 1 2521 286.8 16 Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cell membrane; Cell projection 38 2 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 6 1 5 2001-10-18 Q969F8 KISSR_HUMAN KISS1R KiSS-1 receptor 398 42.6 19 Cell membrane 7 2 Hypogonadotropic hypogonadism 8 with or without anosmia; Precocious puberty, central 1 6 1 5 2005-03-01 Q96AC1 FERM2_HUMAN FERMT2 Fermitin family homolog 2 680 77.9 14 Cytoplasm; Cell junction; Membrane; Cell projection; Nucleus; Cell surface 0 0 6 1 5 2003-11-07 Q96CT7 CC124_HUMAN CCDC124 Coiled-coil domain-containing protein 124 223 25.8 19 Cytoplasm; Midbody 0 0 6 1 5 2006-12-12 Q96IY1 NSL1_HUMAN NSL1 Kinetochore-associated protein NSL1 homolog 281 32.2 1 Nucleus; Chromosome 0 0 6 1 5 2003-07-19 Q96QT6 PHF12_HUMAN PHF12 PHD finger protein 12 1004 109.7 17 Nucleus 0 0 6 1 5 2005-07-19 Q99471 PFD5_HUMAN PFDN5 Prefoldin subunit 5 154 17.3 12 Nucleus 0 0 6 1 5 1997-11-01 Q9BTU6 P4K2A_HUMAN PI4K2A Phosphatidylinositol 4-kinase type 2-alpha 479 54 10 2.7.1.67 Golgi apparatus; Membrane raft; Cell projection; Presynaptic cell membrane; Synapse; Mitochondrion; Endosome; Endosome membrane; Cytoplasmic vesicle; Membrane; Cell membrane; Perikaryon 0 1 Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities 6 1 5 2007-05-01 Q9BTW9 TBCD_HUMAN TBCD Tubulin-specific chaperone D 1192 132.6 17 Cell junction; Lateral cell membrane; Cytoplasm 0 1 Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 6 1 5 2006-02-07 Q9BUN8 DERL1_HUMAN DERL1 Derlin-1 251 28.8 8 Endoplasmic reticulum membrane 6 0 6 1 5 2004-07-19 Q9BV38 WDR18_HUMAN WDR18 WD repeat-containing protein 18 432 47.4 19 Nucleus; Cytoplasm; Dynein axonemal particle 0 0 6 1 5 2002-05-27 Q9BXM7 PINK1_HUMAN PINK1 Serine/threonine-protein kinase PINK1, mitochondrial 581 62.8 1 2.7.11.1 Mitochondrion outer membrane; Mitochondrion inner membrane; Cytoplasm 0 1 Parkinson disease 6 6 1 5 2004-06-07 Q9BXP5 SRRT_HUMAN SRRT Serrate RNA effector molecule homolog 876 100.7 7 Nucleus; Cytoplasm 0 0 6 1 5 2002-01-23 Q9C040 TRIM2_HUMAN TRIM2 Tripartite motif-containing protein 2 744 81.5 4 2.3.2.27 Cytoplasm 0 1 Charcot-Marie-Tooth disease, axonal, type 2R 6 1 5 2002-06-06 Q9C0D0 PHAR1_HUMAN PHACTR1 Phosphatase and actin regulator 1 580 66.3 6 Cytoplasm; Synapse; Nucleus 0 1 Developmental and epileptic encephalopathy 70 6 1 5 2004-06-07 Q9H2J4 PDCL3_HUMAN PDCL3 Phosducin-like protein 3 239 27.6 2 Cytoplasm; Endoplasmic reticulum 0 0 6 1 5 2004-07-19 Q9H7H0 MET17_HUMAN METTL17 Ribosome assembly protein METTL17, mitochondrial 456 50.7 14 Mitochondrion matrix 0 0 6 1 5 2007-12-04 Q9NPF0 CD320_HUMAN CD320 CD320 antigen 282 29 19 Cell membrane 1 1 Methylmalonic aciduria, transient, due to transcobalamin receptor defect 6 1 5 2006-01-24 Q9NPP4 NLRC4_HUMAN NLRC4 NLR family CARD domain-containing protein 4 1024 116.2 2 Cytoplasm; Inflammasome 0 2 Autoinflammation with infantile enterocolitis; Familial cold autoinflammatory syndrome 4 6 1 5 2002-01-31 Q9NRY4 RHG35_HUMAN ARHGAP35 Rho GTPase-activating protein 35 1499 170.5 19 Cytoplasm; Nucleus; Cell membrane 0 0 6 1 5 2003-04-04 Q9UF56 FXL17_HUMAN FBXL17 F-box/LRR-repeat protein 17 701 75.7 5 Cytoplasm; Nucleus 0 0 6 1 5 2004-03-01 Q9UHV9 PFD2_HUMAN PFDN2 Prefoldin subunit 2 154 16.6 1 Nucleus; Cytoplasm; Mitochondrion 0 0 6 1 5 2001-01-11 Q9UKM7 MA1B1_HUMAN MAN1B1 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 699 79.6 9 3.2.1.113 Endoplasmic reticulum membrane 1 1 Rafiq syndrome 6 1 5 2001-11-16 Q9UM47 NOTC3_HUMAN NOTCH3 Neurogenic locus notch homolog protein 3 2321 243.6 19 Cell membrane 1 5 Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1; Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1; Myofibromatosis, infantile 2; Lateral meningocele syndrome; Lipodystrophy, familial partial, 1 6 1 5 2002-03-27 Q9Y210 TRPC6_HUMAN TRPC6 Short transient receptor potential channel 6 931 106.3 11 Cell membrane 6 1 Focal segmental glomerulosclerosis 2 6 1 5 2000-05-30 Q9Y286 SIGL7_HUMAN SIGLEC7 Sialic acid-binding Ig-like lectin 7 467 51.1 19 Membrane 1 0 6 1 5 2002-11-08 Q9Y2T6 GPR55_HUMAN GPR55 G protein-coupled receptor 55 319 36.6 2 Cell membrane 7 0 6 1 5 2005-05-10 Q9Y580 RBM7_HUMAN RBM7 RNA-binding protein 7 266 30.5 11 Nucleus 0 0 6 1 5 2000-12-01 Q9Y5S2 MRCKB_HUMAN CDC42BPB Serine/threonine-protein kinase MRCK beta 1711 194.3 14 2.7.11.1 Cytoplasm; Cell membrane; Cell junction; Cell projection 0 1 Chilton-Okur-Chung neurodevelopmental syndrome 6 1 5 2005-11-08 Q9Y6Q9 NCOA3_HUMAN NCOA3 Nuclear receptor coactivator 3 1424 155.3 20 2.3.1.48 Cytoplasm; Nucleus 0 0 6 1 5 2002-09-19 O14686 KMT2D_HUMAN KMT2D Histone-lysine N-methyltransferase 2D 5537 593.4 12 2.1.1.364 Nucleus 0 2 Kabuki syndrome 1; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 6 1 5 2003-10-10 O15212 PFD6_HUMAN PFDN6 Prefoldin subunit 6 129 14.6 6 0 0 6 1 5 1999-07-15 O15440 MRP5_HUMAN ABCC5 ATP-binding cassette sub-family C member 5 1437 160.7 3 7.6.2.-, 7.6.2.2 Basolateral cell membrane; Golgi apparatus lumen; Endosome membrane; Cytoplasmic granule; Apical cell membrane 13 0 6 1 5 1998-07-15 O43663 PRC1_HUMAN PRC1 Protein regulator of cytokinesis 1 620 71.6 15 Nucleus; Cytoplasm; Midbody; Chromosome 0 0 6 1 5 2006-04-04 O60318 GANP_HUMAN MCM3AP Germinal-center associated nuclear protein 1980 218.4 21 2.3.1.48 Nucleus envelope; Nucleus; Chromosome 0 1 Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 6 1 5 2000-05-30 O60503 ADCY9_HUMAN ADCY9 Adenylate cyclase type 9 1353 150.7 16 4.6.1.1 Cell membrane 12 0 6 1 5 1999-07-15 O75718 CRTAP_HUMAN CRTAP Cartilage-associated protein 401 46.6 3 Secreted 0 1 Osteogenesis imperfecta 7 6 1 5 2001-10-18 O94953 KDM4B_HUMAN KDM4B Lysine-specific demethylase 4B 1096 121.9 19 1.14.11.66 Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 65 6 1 5 2004-02-16 P04798 CP1A1_HUMAN CYP1A1 Cytochrome P450 1A1 512 58.2 15 1.14.14.1 Endoplasmic reticulum membrane; Mitochondrion inner membrane; Microsome membrane; Cytoplasm 0 0 6 1 5 1987-08-13 P07948 LYN_HUMAN LYN Tyrosine-protein kinase Lyn 512 58.6 8 2.7.10.2 Cell membrane; Nucleus; Cytoplasm; Golgi apparatus; Membrane 0 1 Autoinflammatory disease, systemic, with vasculitis 6 1 5 1988-08-01 P12277 KCRB_HUMAN CKB Creatine kinase B-type 381 42.6 14 2.7.3.2 Cytoplasm; Mitochondrion; Cell membrane 0 0 6 1 5 1989-10-01 P15085 CBPA1_HUMAN CPA1 Carboxypeptidase A1 419 47.1 7 3.4.17.1 Secreted 0 0 6 1 5 1990-04-01 P16070 CD44_HUMAN CD44 CD44 antigen 742 81.5 11 Cell membrane; Cell projection; Secreted 1 0 6 1 5 1990-04-01 P19623 SPEE_HUMAN SRM Spermidine synthase 302 33.8 1 2.5.1.16 0 0 6 1 5 1991-02-01 P20382 MCH_HUMAN PMCH Pro-MCH 165 18.7 12 Secreted 0 0 6 1 5 1991-02-01 P22033 MUTA_HUMAN MMUT Methylmalonyl-CoA mutase, mitochondrial 750 83.1 6 5.4.99.2 Mitochondrion matrix; Mitochondrion; Cytoplasm 0 1 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 6 1 5 1991-08-01 P28289 TMOD1_HUMAN TMOD1 Tropomodulin-1 359 40.6 9 Cytoplasm 0 0 6 1 5 1992-12-01 P30626 SORCN_HUMAN SRI Sorcin 198 21.7 7 Cytoplasm; Sarcoplasmic reticulum membrane 0 0 6 1 5 1993-04-01 P31415 CASQ1_HUMAN CASQ1 Calsequestrin-1 396 45.2 1 Endoplasmic reticulum; Sarcoplasmic reticulum; Sarcoplasmic reticulum lumen; Sarcoplasmic reticulum membrane; Mitochondrion matrix 0 2 Myopathy, vacuolar, with CASQ1 aggregates; Myopathy, tubular aggregate, 1 6 1 5 1993-07-01 P35240 MERL_HUMAN NF2 Merlin 595 69.7 22 Cell projection; Nucleus 0 2 Schwannomatosis, vestibular; Mesothelioma, malignant 6 1 5 1994-02-01 P35575 G6PC1_HUMAN G6PC1 Glucose-6-phosphatase catalytic subunit 1 357 40.5 17 3.1.3.9 Endoplasmic reticulum membrane 9 1 Glycogen storage disease 1A 6 1 5 1994-06-01 P42768 WASP_HUMAN WAS Actin nucleation-promoting factor WAS 502 52.9 X Cytoplasm; Nucleus 0 3 Wiskott-Aldrich syndrome; Thrombocytopenia 1; Neutropenia, severe congenital, X-linked 6 1 5 1995-11-01 P49588 SYAC_HUMAN AARS1 Alanine--tRNA ligase, cytoplasmic 968 106.8 16 6.1.1.7 Cytoplasm; Nucleus 0 4 Charcot-Marie-Tooth disease, axonal, type 2N; Developmental and epileptic encephalopathy 29; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, non-photosensitive 6 1 5 1996-02-01 P49638 TTPA_HUMAN TTPA Alpha-tocopherol transfer protein 278 31.8 8 Cytoplasm 0 1 Ataxia with vitamin E deficiency 6 1 5 1996-02-01 P50583 AP4A_HUMAN NUDT2 Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical] 147 16.8 9 3.6.1.17 0 1 Intellectual developmental disorder with or without peripheral neuropathy 6 1 5 1996-10-01 P53985 MOT1_HUMAN SLC16A1 Monocarboxylate transporter 1 500 53.9 1 Cell membrane; Basolateral cell membrane; Apical cell membrane 12 3 Symptomatic deficiency in lactate transport; Hyperinsulinemic hypoglycemia, familial, 7; Monocarboxylate transporter 1 deficiency 6 1 5 1996-10-01 P54652 HSP72_HUMAN HSPA2 Heat shock-related 70 kDa protein 2 639 70 14 Cytoplasm 0 0 6 1 5 1996-10-01 P60002 ELOF1_HUMAN ELOF1 Transcription elongation factor 1 homolog 83 9.5 19 Nucleus; Chromosome 0 0 6 1 5 2003-11-14 P61165 TM258_HUMAN TMEM258 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TMEM258 79 9.1 11 Membrane; Endoplasmic reticulum; Cytoplasm 2 0 6 1 5 2004-05-10 P78330 SERB_HUMAN PSPH Phosphoserine phosphatase 225 25 7 3.1.3.3 Cytoplasm 0 1 Phosphoserine phosphatase deficiency 6 1 5 2000-05-30 P78556 CCL20_HUMAN CCL20 C-C motif chemokine 20 96 10.8 2 Secreted 0 0 6 1 5 1997-11-01 P84095 RHOG_HUMAN RHOG Rho-related GTP-binding protein RhoG 191 21.3 11 3.6.5.2 Cell membrane 0 0 6 1 5 2004-08-16 Q02641 CACB1_HUMAN CACNB1 Voltage-dependent L-type calcium channel subunit beta-1 598 65.7 17 Cell membrane 0 0 6 1 5 1994-06-01 Q08211 DHX9_HUMAN DHX9 ATP-dependent RNA helicase A 1270 141 1 3.6.4.13 Nucleus; Cytoplasm 0 1 Intellectual developmental disorder, autosomal dominant 75 6 1 5 1995-02-01 Q12767 TMM94_HUMAN TMEM94 Transmembrane protein 94 1356 151.2 17 Endoplasmic reticulum membrane 10 1 Intellectual developmental disorder with cardiac defects and dysmorphic facies 6 1 5 1997-11-01 Q14444 CAPR1_HUMAN CAPRIN1 Caprin-1 709 78.4 11 Cytoplasm; Cell projection 0 2 Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline; Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder 6 1 5 1997-11-01 Q14721 KCNB1_HUMAN KCNB1 Potassium voltage-gated channel subfamily B member 1 858 95.9 20 Cell membrane; Perikaryon; Cell projection; Membrane; Postsynaptic cell membrane; Synapse; Lateral cell membrane 6 1 Developmental and epileptic encephalopathy 26 6 1 5 1998-07-15 Q14831 GRM7_HUMAN GRM7 Metabotropic glutamate receptor 7 915 102.3 3 Cell membrane 7 1 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 6 1 5 1997-11-01 Q15080 NCF4_HUMAN NCF4 Neutrophil cytosol factor 4 339 39 22 Cytoplasm; Endosome membrane; Membrane 0 1 Granulomatous disease, chronic, autosomal recessive, 3 6 1 5 2000-05-30 Q15084 PDIA6_HUMAN PDIA6 Protein disulfide-isomerase A6 440 48.1 2 5.3.4.1 Endoplasmic reticulum lumen; Cell membrane; Melanosome 0 0 6 1 5 1997-11-01 Q15223 NECT1_HUMAN NECTIN1 Nectin-1 517 57.2 11 Cell membrane; Cell junction; Presynaptic cell membrane 1 2 Ectodermal dysplasia, Margarita Island type; Non-syndromic orofacial cleft 7 6 1 5 2001-09-26 Q16394 EXT1_HUMAN EXT1 Exostosin-1 746 86.3 8 2.4.1.225 Golgi apparatus membrane; Golgi apparatus; Endoplasmic reticulum membrane 1 2 Hereditary multiple exostoses 1; Chondrosarcoma 6 1 5 1997-11-01 Q32P28 P3H1_HUMAN P3H1 Prolyl 3-hydroxylase 1 736 83.4 1 1.14.11.7 Secreted 0 1 Osteogenesis imperfecta 8 6 1 5 2006-06-27 Q3B726 RPA43_HUMAN POLR1F DNA-directed RNA polymerase I subunit RPA43 338 37.4 7 Nucleus 0 0 6 1 5 2007-05-29 Q5T9L3 WLS_HUMAN WLS Protein wntless homolog 541 62.3 1 Golgi apparatus membrane; Cytoplasmic vesicle membrane; Cell membrane; Endoplasmic reticulum membrane; Early endosome membrane 8 1 Zaki syndrome 6 1 5 2007-01-09 Q6NYC1 JMJD6_HUMAN JMJD6 Bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 403 46.5 17 1.14.11.- Nucleus; Cytoplasm 0 0 6 1 5 2005-06-07 Q7L014 DDX46_HUMAN DDX46 Probable ATP-dependent RNA helicase DDX46 1031 117.4 5 3.6.4.13 Nucleus speckle; Nucleus 0 0 6 1 5 2006-01-10 Q7Z2W7 TRPM8_HUMAN TRPM8 Transient receptor potential cation channel subfamily M member 8 1104 127.7 2 Cell membrane; Membrane raft; Endoplasmic reticulum membrane 6 0 6 1 5 2004-12-21 Q8N1G2 CMTR1_HUMAN CMTR1 Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 1 835 95.3 6 2.1.1.57 Nucleus 0 0 6 1 5 2006-10-03 Q8NB91 FANCB_HUMAN FANCB Fanconi anemia group B protein 859 97.7 X Nucleus 0 1 Fanconi anemia complementation group B 6 1 5 2005-10-25 Q92608 DOCK2_HUMAN DOCK2 Dedicator of cytokinesis protein 2 1830 211.9 5 Endomembrane system; Cytoplasm 0 1 Immunodeficiency 40 6 1 5 2003-07-03 Q92624 APBP2_HUMAN APPBP2 Amyloid protein-binding protein 2 585 66.9 17 Nucleus; Cytoplasm; Membrane 0 0 6 1 5 2004-07-19 Q92878 RAD50_HUMAN RAD50 DNA repair protein RAD50 1312 153.9 5 3.6.-.- Nucleus; Chromosome 0 1 Nijmegen breakage syndrome-like disorder 6 1 5 2005-02-01 Q92934 BAD_HUMAN BAD Bcl2-associated agonist of cell death 168 18.4 11 Mitochondrion outer membrane; Cytoplasm 0 0 6 1 5 1997-11-01 Q969R8 ITFG2_HUMAN ITFG2 KICSTOR complex protein ITFG2 447 49.3 12 Lysosome membrane 0 0 6 1 5 2007-05-29 Q96EY8 MMAB_HUMAN MMAB Corrinoid adenosyltransferase MMAB 250 27.4 12 2.5.1.- Mitochondrion 0 1 Methylmalonic aciduria, cblB type 6 1 5 2003-11-07 Q99500 S1PR3_HUMAN S1PR3 Sphingosine 1-phosphate receptor 3 378 42.3 9 Cell membrane 7 0 6 1 5 1997-11-01 Q9BQ15 SOSB1_HUMAN NABP2 SOSS complex subunit B1 211 22.3 12 Nucleus 0 0 6 1 5 2008-05-20 Q9H0F5 RNF38_HUMAN RNF38 E3 ubiquitin-protein ligase RNF38 515 57.6 9 2.3.2.27 Nucleus 0 0 6 1 5 2004-12-21 Q9H9F9 ARP5_HUMAN ACTR5 Actin-related protein 5 607 68.3 20 Nucleus; Cytoplasm 0 0 6 1 5 2006-07-25 Q9HAN9 NMNA1_HUMAN NMNAT1 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 279 31.9 1 2.7.7.1, 2.7.7.18 Nucleus 0 2 Leber congenital amaurosis 9; Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and Leber congenital amaurosis 6 1 5 2003-05-09 Q9HCN6 GPVI_HUMAN GP6 Platelet glycoprotein VI 339 36.9 19 Cell membrane 1 1 Bleeding disorder, platelet-type, 11 6 1 5 2006-04-04 Q9NP79 VTA1_HUMAN VTA1 Vacuolar protein sorting-associated protein VTA1 homolog 307 33.9 6 Cytoplasm; Endosome membrane 0 0 6 1 5 2003-05-09 Q9NP81 SYSM_HUMAN SARS2 Serine--tRNA ligase, mitochondrial 518 58.3 19 6.1.1.11 Mitochondrion matrix 0 1 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome 6 1 5 2002-10-10 Q9NR31 SAR1A_HUMAN SAR1A Small COPII coat GTPase SAR1A 198 22.4 10 3.6.5.2 Endoplasmic reticulum membrane; Golgi apparatus; Cytoplasm; Lysosome membrane 0 0 6 1 5 2001-06-20 Q9NR56 MBNL1_HUMAN MBNL1 Muscleblind-like protein 1 388 41.8 3 Nucleus; Cytoplasm; Cytoplasmic granule 0 2 Dystrophia myotonica 1; Corneal dystrophy, Fuchs endothelial, 3 6 1 5 2001-11-16 Q9NYB9 ABI2_HUMAN ABI2 Abl interactor 2 513 55.7 2 Cytoplasm; Nucleus 0 0 6 1 5 2004-07-19 Q9UBF6 RBX2_HUMAN RNF7 RING-box protein 2 113 12.7 3 2.3.2.27, 2.3.2.32 Cytoplasm; Nucleus 0 0 6 1 5 2003-10-03 Q9UK17 KCND3_HUMAN KCND3 A-type voltage-gated potassium channel KCND3 655 73.5 1 Cell membrane; Cell projection 6 2 Spinocerebellar ataxia 19; Brugada syndrome 9 6 1 5 2003-11-07 Q9UKA1 FBXL5_HUMAN FBXL5 F-box/LRR-repeat protein 5 691 78.6 4 Cytoplasm; Nucleus 0 0 6 1 5 2003-10-03 Q9UPP1 PHF8_HUMAN PHF8 Histone lysine demethylase PHF8 1060 117.9 X 1.14.11.-, 1.14.11.65 Nucleus 0 1 Intellectual developmental disorder, X-linked, syndromic, Siderius type 6 1 5 2004-07-19 Q9Y2H6 FND3A_HUMAN FNDC3A Fibronectin type-III domain-containing protein 3A 1198 131.9 13 Golgi apparatus membrane 1 0 6 1 5 2004-07-19 Q9Y530 OARD1_HUMAN OARD1 ADP-ribose glycohydrolase OARD1 152 17 6 Nucleus; Chromosome 0 0 6 1 5 2000-12-01 O00139 KIF2A_HUMAN KIF2A Kinesin-like protein KIF2A 706 80 5 Cytoplasm 0 1 Cortical dysplasia, complex, with other brain malformations 3 6 1 5 1998-07-15 O43709 BUD23_HUMAN BUD23 18S rRNA (guanine-N(7))-methyltransferase 281 31.9 7 2.1.1.- Nucleus; Cytoplasm 0 0 6 1 5 1999-07-15 O60870 KIN17_HUMAN KIN DNA/RNA-binding protein KIN17 393 45.4 10 Nucleus; Cytoplasm 0 0 6 1 5 2007-05-29 O60880 SH21A_HUMAN SH2D1A SH2 domain-containing protein 1A 128 14.2 X Cytoplasm 0 1 Lymphoproliferative syndrome, X-linked, 1 6 1 5 1999-07-15 O75044 SRGP2_HUMAN SRGAP2 SLIT-ROBO Rho GTPase-activating protein 2 1071 120.9 1 Cell membrane; Cell projection; Postsynaptic density; Postsynaptic cell membrane; Cytoplasmic vesicle; Nucleus; Cytoplasm 0 0 6 1 5 2004-06-07 O75436 VP26A_HUMAN VPS26A Vacuolar protein sorting-associated protein 26A 327 38.2 10 Cytoplasm; Endosome membrane; Early endosome 0 0 6 1 5 2001-02-21 O75570 RF1M_HUMAN MTRF1 Peptide chain release factor 1, mitochondrial 445 52.3 13 Mitochondrion 0 0 6 1 5 1998-12-15 O94855 SC24D_HUMAN SEC24D Protein transport protein Sec24D 1032 113 4 Cytoplasmic vesicle; Endoplasmic reticulum membrane; Cytoplasm 0 1 Cole-Carpenter syndrome 2 6 1 5 2001-02-21 P01127 PDGFB_HUMAN PDGFB Platelet-derived growth factor subunit B 241 27.3 22 Secreted 0 1 Basal ganglia calcification, idiopathic, 5 6 1 5 1986-07-21 P04843 RPN1_HUMAN RPN1 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 607 68.6 3 Endoplasmic reticulum membrane; Melanosome 1 0 6 1 5 1987-08-13 P05181 CP2E1_HUMAN CYP2E1 Cytochrome P450 2E1 493 56.8 10 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane; Mitochondrion inner membrane 0 0 6 1 5 1987-08-13 P05981 HEPS_HUMAN HPN Serine protease hepsin 417 45 19 3.4.21.106 Cell membrane; Apical cell membrane 1 0 6 1 5 1988-11-01 P06731 CEAM5_HUMAN CEACAM5 Cell adhesion molecule CEACAM5 702 76.8 19 Cell membrane; Apical cell membrane; Cell surface 0 0 6 1 5 1988-01-01 P07288 KLK3_HUMAN KLK3 Prostate-specific antigen 261 28.7 19 3.4.21.77 Secreted 0 0 6 1 5 1988-04-01 P0DOY3 IGLC3_HUMAN IGLC3 Immunoglobulin lambda constant 3 106 11.3 22 Secreted; Cell membrane 0 0 6 1 5 2017-03-15 P10082 PYY_HUMAN PYY Peptide YY 97 11.1 17 Secreted 0 0 6 1 5 1989-07-01 P11279 LAMP1_HUMAN LAMP1 Lysosome-associated membrane glycoprotein 1 417 44.9 13 Lysosome membrane; Endosome membrane; Late endosome membrane; Cell membrane; Cytolytic granule membrane 1 0 6 1 5 1989-07-01 P13797 PLST_HUMAN PLS3 Plastin-3 630 70.8 X Cytoplasm 0 2 Osteoporosis; Diaphragmatic hernia 5, X-linked 6 1 5 1990-01-01 P16152 CBR1_HUMAN CBR1 Carbonyl reductase [NADPH] 1 277 30.4 21 1.1.1.184 Cytoplasm 0 0 6 1 5 1990-04-01 P20340 RAB6A_HUMAN RAB6A Ras-related protein Rab-6A 208 23.6 11 3.6.5.2 Golgi apparatus membrane; Cytoplasmic vesicle 0 0 6 1 5 1991-02-01 P21912 SDHB_HUMAN SDHB Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial 280 31.6 1 1.3.5.1 Mitochondrion inner membrane 0 3 Pheochromocytoma/paraganglioma syndrome 4; Paraganglioma and gastric stromal sarcoma; Mitochondrial complex II deficiency, nuclear type 4 6 1 5 1991-05-01 P23471 PTPRZ_HUMAN PTPRZ1 Receptor-type tyrosine-protein phosphatase zeta 2315 254.6 7 3.1.3.48 Cell membrane; Secreted 1 0 6 1 5 1991-11-01 P32247 BRS3_HUMAN BRS3 Bombesin receptor subtype-3 399 44.4 X Cell membrane 7 0 6 1 5 1993-10-01 P40763 STAT3_HUMAN STAT3 Signal transducer and activator of transcription 3 770 88.1 17 Cytoplasm; Nucleus 0 2 Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections; Autoimmune disease, multisystem, infantile-onset, 1 6 1 5 1995-02-01 P42702 LIFR_HUMAN LIFR Leukemia inhibitory factor receptor 1097 123.7 5 Cell membrane 1 1 Stuve-Wiedemann syndrome 1 6 1 5 1995-11-01 P46087 NOP2_HUMAN NOP2 28S rRNA (cytosine(4447)-C(5))-methyltransferase 812 89.3 12 2.1.1.- Nucleus 0 0 6 1 5 1995-11-01 P49418 AMPH_HUMAN AMPH Amphiphysin 695 76.3 7 Cytoplasmic vesicle; Cytoplasm 0 0 6 1 5 1996-02-01 P51161 FABP6_HUMAN FABP6 Gastrotropin 128 14.4 5 Cytoplasm; Membrane 0 0 6 1 5 1996-10-01 P51693 APLP1_HUMAN APLP1 Amyloid beta precursor like protein 1 650 72.2 19 Cell membrane 1 0 6 1 5 1996-10-01 P58004 SESN2_HUMAN SESN2 Sestrin-2 480 54.5 1 1.11.1.- Cytoplasm 0 0 6 1 5 2001-04-27 P61758 PFD3_HUMAN VBP1 Prefoldin subunit 3 197 22.6 X Cytoplasm; Nucleus 0 0 6 1 5 2004-06-07 P81172 HEPC_HUMAN HAMP Hepcidin 84 9.4 19 Secreted 0 1 Hemochromatosis 2B 6 1 5 1998-12-15 Q00597 FANCC_HUMAN FANCC Fanconi anemia group C protein 558 63.4 9 Nucleus; Cytoplasm 0 1 Fanconi anemia complementation group C 6 1 5 1996-10-01 Q02224 CENPE_HUMAN CENPE Centromere-associated protein E 2701 316.4 4 Chromosome; Cytoplasm 0 1 Microcephaly 13, primary, autosomal recessive 6 1 5 1993-07-01 Q10588 BST1_HUMAN BST1 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 318 35.7 4 3.2.2.6 Cell membrane 0 0 6 1 5 1996-10-01 Q13324 CRHR2_HUMAN CRHR2 Corticotropin-releasing hormone receptor 2 411 47.7 7 Cell membrane 7 0 6 1 5 1997-11-01 Q14318 FKBP8_HUMAN FKBP8 Peptidyl-prolyl cis-trans isomerase FKBP8 412 44.6 19 5.2.1.8 Mitochondrion; Mitochondrion membrane 1 0 6 1 5 2000-05-30 Q15036 SNX17_HUMAN SNX17 Sorting nexin-17 470 52.9 2 Cytoplasm; Early endosome; Cytoplasmic vesicle membrane 0 0 6 1 5 1998-07-15 Q15274 NADC_HUMAN QPRT Nicotinate-nucleotide pyrophosphorylase [carboxylating] 297 30.8 16 2.4.2.19 0 0 6 1 5 1997-11-01 Q16222 UAP1_HUMAN UAP1 UDP-N-acetylhexosamine pyrophosphorylase 522 58.8 1 Cytoplasm 0 0 6 1 5 1999-07-15 Q16570 ACKR1_HUMAN ACKR1 Atypical chemokine receptor 1 336 35.6 1 Early endosome; Recycling endosome; Membrane 7 0 6 1 5 1997-11-01 Q5T848 MGLYR_HUMAN GPR158 Metabotropic glycine receptor 1215 135.5 10 Cell membrane; Postsynaptic cell membrane; Presynaptic cell membrane; Nucleus 7 0 6 1 5 2005-06-07 Q6IQ55 TTBK2_HUMAN TTBK2 Tau-tubulin kinase 2 1244 137.4 15 2.7.11.1 Cell projection; Cytoplasm; Nucleus 0 1 Spinocerebellar ataxia 11 6 1 5 2006-05-16 Q8TDD1 DDX54_HUMAN DDX54 ATP-dependent RNA helicase DDX54 881 98.6 12 3.6.4.13 Nucleus 0 0 6 1 5 2004-04-26 Q8TDX5 ACMSD_HUMAN ACMSD 2-amino-3-carboxymuconate-6-semialdehyde decarboxylase 336 38 2 4.1.1.45 0 0 6 1 5 2003-10-24 Q8WWT9 S13A3_HUMAN SLC13A3 Na(+)/dicarboxylate cotransporter 3 602 66.8 20 Cell membrane 11 1 Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate 6 1 5 2002-09-19 Q92837 FRAT1_HUMAN FRAT1 Proto-oncogene FRAT1 279 29.1 10 Cytoplasm 0 0 6 1 5 1998-07-15 Q93100 KPBB_HUMAN PHKB Phosphorylase b kinase regulatory subunit beta 1093 124.9 16 Cell membrane 0 1 Glycogen storage disease 9B 6 1 5 1997-11-01 Q96EK5 KBP_HUMAN KIFBP KIF-binding protein 621 71.8 10 Cytoplasm 0 1 Goldberg-Shprintzen syndrome 6 1 5 2005-08-30 Q96J94 PIWL1_HUMAN PIWIL1 Piwi-like protein 1 861 98.6 12 3.1.26.- Cytoplasm 0 0 6 1 5 2006-05-16 Q96T66 NMNA3_HUMAN NMNAT3 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 3 252 28.3 3 Mitochondrion 0 0 6 1 5 2004-05-10 Q9BQB6 VKOR1_HUMAN VKORC1 Vitamin K epoxide reductase complex subunit 1 163 18.2 16 1.17.4.4 Endoplasmic reticulum membrane 4 2 Combined deficiency of vitamin K-dependent clotting factors 2; Coumarin resistance 6 1 5 2005-04-12 Q9BR76 COR1B_HUMAN CORO1B Coronin-1B 489 54.2 11 Cytoplasm 0 0 6 1 5 2002-05-27 Q9BXC0 HCAR1_HUMAN HCAR1 Hydroxycarboxylic acid receptor 1 346 39.3 12 Cell membrane 7 0 6 1 5 2003-10-10 Q9BXW6 OSBL1_HUMAN OSBPL1A Oxysterol-binding protein-related protein 1 950 108.5 18 Late endosome 0 0 6 1 5 2002-02-11 Q9H251 CAD23_HUMAN CDH23 Cadherin-23 3354 369.5 10 Cell membrane 1 4 Usher syndrome 1D; Usher syndrome 1D/F; Deafness, autosomal recessive, 12; Pituitary adenoma 5, multiple types 6 1 5 2001-11-16 Q9HAR2 AGRL3_HUMAN ADGRL3 Adhesion G protein-coupled receptor L3 1447 161.8 4 Cell membrane; Postsynaptic cell membrane; Cell projection; Cell junction 7 0 6 1 5 2004-05-10 Q9HAU5 RENT2_HUMAN UPF2 Regulator of nonsense transcripts 2 1272 147.8 10 Cytoplasm 0 0 6 1 5 2005-03-01 Q9HBE5 IL21R_HUMAN IL21R Interleukin-21 receptor 538 59.1 16 Membrane 1 1 Immunodeficiency 56 6 1 5 2002-05-02 Q9NQ38 ISK5_HUMAN SPINK5 Serine protease inhibitor Kazal-type 5 1064 120.7 5 Secreted 0 1 Netherton syndrome 6 1 5 2001-05-04 Q9NQU5 PAK6_HUMAN PAK6 Serine/threonine-protein kinase PAK 6 681 74.9 15 2.7.11.1 Cytoplasm; Nucleus 0 0 6 1 5 2002-09-19 Q9NYJ8 TAB2_HUMAN TAB2 TGF-beta-activated kinase 1 and MAP3K7-binding protein 2 693 76.5 6 Membrane; Endosome membrane; Lysosome membrane; Cytoplasm 0 1 Congenital heart defects, multiple types, 2 6 1 5 2006-03-07 Q9NZQ3 SPN90_HUMAN NCKIPSD NCK-interacting protein with SH3 domain 722 79 3 Nucleus 0 0 6 1 5 2001-12-05 Q9P0U4 CXXC1_HUMAN CXXC1 CXXC-type zinc finger protein 1 656 75.7 18 Nucleus speckle; Nucleus 0 0 6 1 5 2002-03-27 Q9UHP7 CLC2D_HUMAN CLEC2D C-type lectin domain family 2 member D 191 21.8 12 Cell membrane 1 0 6 1 5 2008-01-15 Q9UM11 FZR1_HUMAN FZR1 Fizzy-related protein homolog 496 55.2 19 Nucleus 0 1 Developmental and epileptic encephalopathy 109 6 1 5 2003-10-03 Q9UN81 LORF1_HUMAN L1RE1 LINE-1 retrotransposable element ORF1 protein 338 40.1 Nucleus; Cytoplasm 0 0 6 1 5 2014-01-22 Q9Y2K7 KDM2A_HUMAN KDM2A Lysine-specific demethylase 2A 1162 132.8 11 1.14.11.27 Nucleus; Chromosome 0 0 6 1 5 2003-11-07 Q9Y3A5 SBDS_HUMAN SBDS Ribosome maturation protein SBDS 250 28.8 7 Cytoplasm; Nucleus 0 1 Shwachman-Diamond syndrome 1 6 1 5 2000-05-30 Q9Y5Y4 PD2R2_HUMAN PTGDR2 Prostaglandin D2 receptor 2 395 43.3 11 Cell membrane 7 0 6 1 5 2001-07-11 Q9Y664 KPTN_HUMAN KPTN KICSTOR complex protein kaptin 436 48.1 19 Lysosome membrane; Cell projection 0 1 Intellectual developmental disorder, autosomal recessive 41 6 1 5 2006-05-30 Q9Y6G5 COMDA_HUMAN COMMD10 COMM domain-containing protein 10 202 23 5 Cytoplasm; Nucleus 0 0 6 1 5 2004-08-16 Q49AH0 CDNF_HUMAN CDNF Cerebral dopamine neurotrophic factor 187 21 10 Secreted 0 0 6 1 4 2007-04-03 Q15391 P2Y14_HUMAN P2RY14 P2Y purinoceptor 14 338 39 3 Cell membrane 7 0 6 1 4 1998-07-15 A0A0B4J277 TVA22_HUMAN TRAV22 T cell receptor alpha variable 22 110 12.1 14 Cell membrane 0 0 6 1 3 2018-02-28 Q9UGV2 NDRG3_HUMAN NDRG3 Protein NDRG3 375 41.4 20 0 0 6 1 3 2000-12-01 B1AL88 NALF1_HUMAN NALF1 NALCN channel auxiliary factor 1 458 51.5 13 Cell membrane 2 0 5 1 5 2008-06-10 O00330 ODPX_HUMAN PDHX Pyruvate dehydrogenase protein X component, mitochondrial 501 54.1 11 Mitochondrion matrix 0 1 Pyruvate dehydrogenase E3-binding protein deficiency 5 1 5 1999-07-15 O14949 QCR8_HUMAN UQCRQ Cytochrome b-c1 complex subunit 8 82 9.9 5 Mitochondrion inner membrane 1 1 Mitochondrial complex III deficiency, nuclear type 4 5 1 5 1998-07-15 O14957 QCR10_HUMAN UQCR11 Cytochrome b-c1 complex subunit 10 56 6.6 19 Mitochondrion inner membrane 1 0 5 1 5 1998-12-15 O15111 IKKA_HUMAN CHUK Inhibitor of nuclear factor kappa-B kinase subunit alpha 745 84.6 10 2.7.11.10 Cytoplasm; Nucleus 0 2 Cocoon syndrome; Bartsocas-Papas syndrome 2 5 1 5 2001-06-01 O15265 ATX7_HUMAN ATXN7 Ataxin-7 892 95.5 3 Nucleus; Nucleus matrix; Cytoplasm 0 1 Spinocerebellar ataxia 7 5 1 5 1999-07-15 O43323 DHH_HUMAN DHH Desert hedgehog protein 396 43.6 12 3.1.-.- Endoplasmic reticulum membrane; Golgi apparatus membrane 0 2 46,XY gonadal dysgenesis with minifascicular neuropathy; 46,XY sex reversal 7 5 1 5 1999-07-15 O43566 RGS14_HUMAN RGS14 Regulator of G protein signaling 14 566 61.4 5 Nucleus; Cytoplasm; Membrane; Cell membrane; Cell projection; Postsynaptic density 0 0 5 1 5 1998-12-15 O43818 U3IP2_HUMAN RRP9 U3 small nucleolar RNA-interacting protein 2 475 51.8 3 Nucleus 0 0 5 1 5 2003-10-10 O43914 TYOBP_HUMAN TYROBP TYRO protein tyrosine kinase-binding protein 113 12.2 19 Cell membrane 1 1 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 5 1 5 2000-05-30 O95544 NADK_HUMAN NADK NAD kinase 446 49.2 1 2.7.1.23 0 0 5 1 5 2000-05-30 O95630 STABP_HUMAN STAMBP STAM-binding protein 424 48.1 2 3.4.19.- Nucleus; Membrane; Cytoplasm; Early endosome 0 1 Microcephaly-capillary malformation syndrome 5 1 5 2005-07-19 P01185 NEU2_HUMAN AVP Vasopressin-neurophysin 2-copeptin 164 17.3 20 Cytoplasmic vesicle 0 1 Diabetes insipidus, neurohypophyseal 5 1 5 1986-07-21 P02771 FETA_HUMAN AFP Alpha-fetoprotein 609 68.7 4 Secreted 0 2 Alpha-fetoprotein deficiency; Alpha-fetoprotein, hereditary persistence 5 1 5 1986-07-21 P07384 CAN1_HUMAN CAPN1 Calpain-1 catalytic subunit 714 81.9 11 3.4.22.52 Cytoplasm; Cell membrane 0 1 Spastic paraplegia 76, autosomal recessive 5 1 5 1988-04-01 P07910 HNRPC_HUMAN HNRNPC Heterogeneous nuclear ribonucleoproteins C1/C2 306 33.7 14 Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 74 5 1 5 1988-08-01 P08922 ROS1_HUMAN ROS1 Proto-oncogene tyrosine-protein kinase ROS 2347 263.9 6 2.7.10.1 Cell membrane 1 0 5 1 5 1988-11-01 P0DMS8 AA3R_HUMAN ADORA3 Adenosine receptor A3 318 36.2 1 Cell membrane 7 0 5 1 5 2015-04-01 P10632 CP2C8_HUMAN CYP2C8 Cytochrome P450 2C8 490 55.8 10 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 5 1 5 1989-07-01 P15260 INGR1_HUMAN IFNGR1 Interferon gamma receptor 1 489 54.4 6 Cell membrane 1 2 Immunodeficiency 27A; Immunodeficiency 27B 5 1 5 1990-04-01 P15374 UCHL3_HUMAN UCHL3 Ubiquitin carboxyl-terminal hydrolase isozyme L3 230 26.2 13 3.4.19.12 Cytoplasm 0 0 5 1 5 1990-04-01 P15923 TFE2_HUMAN TCF3 Transcription factor E2-alpha 654 67.6 19 Nucleus 0 2 Agammaglobulinemia 8A, autosomal dominant; Agammaglobulinemia 8B, autosomal recessive 5 1 5 1990-04-01 P17096 HMGA1_HUMAN HMGA1 High mobility group protein HMG-I/HMG-Y 107 11.7 6 Nucleus; Chromosome 0 0 5 1 5 1990-08-01 P17861 XBP1_HUMAN XBP1 X-box-binding protein 1 261 28.7 22 Endoplasmic reticulum 1 1 Major affective disorder 7 5 1 5 1990-11-01 P18510 IL1RA_HUMAN IL1RN Interleukin-1 receptor antagonist protein 177 20.1 2 Secreted 0 2 Microvascular complications of diabetes 4; Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis 5 1 5 1990-11-01 P21926 CD9_HUMAN CD9 CD9 antigen 228 25.4 12 Cell membrane; Membrane; Secreted 4 0 5 1 5 1991-05-01 P25874 UCP1_HUMAN UCP1 Mitochondrial brown fat uncoupling protein 1 307 33 4 Mitochondrion inner membrane 6 0 5 1 5 1992-05-01 P26639 SYTC_HUMAN TARS1 Threonine--tRNA ligase 1, cytoplasmic 723 83.4 5 6.1.1.3 Cytoplasm 0 1 Trichothiodystrophy 7, non-photosensitive 5 1 5 1992-08-01 P27037 AVR2A_HUMAN ACVR2A Activin receptor type-2A 513 57.8 2 2.7.11.30 Cell membrane 1 0 5 1 5 1992-08-01 P30542 AA1R_HUMAN ADORA1 Adenosine receptor A1 326 36.5 1 Cell membrane 7 0 5 1 5 1993-04-01 P31040 SDHA_HUMAN SDHA Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial 664 72.7 5 1.3.5.1 Mitochondrion inner membrane 0 5 Mitochondrial complex II deficiency, nuclear type 1; Leigh syndrome; Cardiomyopathy, dilated, 1GG; Pheochromocytoma/paraganglioma syndrome 5; Neurodegeneration with ataxia and late-onset optic atrophy 5 1 5 1993-07-01 P32239 GASR_HUMAN CCKBR Gastrin/cholecystokinin type B receptor 447 48.4 11 Cell membrane 7 0 5 1 5 1993-10-01 P33778 H2B1B_HUMAN H2BC3 Histone H2B type 1-B 126 14 6 Nucleus; Chromosome 0 0 5 1 5 1994-02-01 P37198 NUP62_HUMAN NUP62 Nuclear pore glycoprotein p62 522 53.3 19 Nucleus; Cytoplasm; Nucleus envelope 0 1 Infantile striatonigral degeneration 5 1 5 1994-10-01 P40259 CD79B_HUMAN CD79B B-cell antigen receptor complex-associated protein beta chain 229 26 17 Cell membrane 1 1 Agammaglobulinemia 6, autosomal recessive 5 1 5 1995-02-01 P47900 P2RY1_HUMAN P2RY1 P2Y purinoceptor 1 373 42.1 3 Cell membrane 7 0 5 1 5 1996-02-01 P49189 AL9A1_HUMAN ALDH9A1 4-trimethylaminobutyraldehyde dehydrogenase 494 53.8 1 1.2.1.47 Cytoplasm 0 0 5 1 5 1996-02-01 P49842 WHR1_HUMAN WHR1 Winged helix repair factor 1 254 28.5 6 Nucleus 0 0 5 1 5 1996-10-01 P51168 SCNNB_HUMAN SCNN1B Epithelial sodium channel subunit beta 640 72.7 16 Apical cell membrane; Cytoplasmic vesicle membrane 2 3 Pseudohypoaldosteronism 1B2, autosomal recessive; Liddle syndrome 1; Bronchiectasis with or without elevated sweat chloride 1 5 1 5 1996-10-01 P53365 ARFP2_HUMAN ARFIP2 Arfaptin-2 341 37.9 11 Golgi apparatus 0 0 5 1 5 1996-10-01 P59998 ARPC4_HUMAN ARPC4 Actin-related protein 2/3 complex subunit 4 168 19.7 3 Cytoplasm; Cell projection; Nucleus 0 1 Developmental delay, language impairment, and ocular abnormalities 5 1 5 2003-11-14 P61158 ARP3_HUMAN ACTR3 Actin-related protein 3 418 47.4 2 Cytoplasm; Cell projection; Nucleus 0 0 5 1 5 2004-05-10 P61160 ARP2_HUMAN ACTR2 Actin-related protein 2 394 44.8 2 Cytoplasm; Cell projection; Nucleus 0 0 5 1 5 2004-05-10 P98066 TSG6_HUMAN TNFAIP6 Tumor necrosis factor-inducible gene 6 protein 277 31.2 2 3.1.1.- Secreted 0 0 5 1 5 1996-02-01 Q01518 CAP1_HUMAN CAP1 Adenylyl cyclase-associated protein 1 475 51.9 1 Cell membrane 0 0 5 1 5 1993-07-01 Q01968 OCRL_HUMAN OCRL Inositol polyphosphate 5-phosphatase OCRL 901 104.2 X 3.1.3.36, 3.1.3.56 Cytoplasmic vesicle; Early endosome membrane; Membrane; Cell projection; Endosome; Golgi apparatus; Lysosome 0 2 Lowe oculocerebrorenal syndrome; Dent disease 2 5 1 5 1993-07-01 Q05823 RN5A_HUMAN RNASEL 2-5A-dependent ribonuclease 741 83.5 1 3.1.26.- Cytoplasm; Mitochondrion 0 1 Prostate cancer, hereditary, 1 5 1 5 1995-11-01 Q13177 PAK2_HUMAN PAK2 Serine/threonine-protein kinase PAK 2 524 58 3 2.7.11.1 Cytoplasm; Nucleus 0 1 Knobloch syndrome 2 5 1 5 1997-11-01 Q13630 FCL_HUMAN GFUS GDP-L-fucose synthase 321 35.9 8 1.1.1.271 0 0 5 1 5 2001-02-21 Q14669 TRIPC_HUMAN TRIP12 E3 ubiquitin-protein ligase TRIP12 2067 228.5 2 2.3.2.26 Nucleus 0 1 Clark-Baraitser syndrome 5 1 5 1997-11-01 Q14CM0 FRPD4_HUMAN FRMPD4 FERM and PDZ domain-containing protein 4 1322 144.4 X Cell projection 0 1 Intellectual developmental disorder, X-linked 104 5 1 5 2007-10-23 Q15120 PDK3_HUMAN PDK3 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial 406 46.9 X 2.7.11.2 Mitochondrion matrix 0 1 Charcot-Marie-Tooth disease, X-linked dominant, 6 5 1 5 1998-07-15 Q15185 TEBP_HUMAN PTGES3 Prostaglandin E synthase 3 160 18.7 12 5.3.99.3 Cytoplasm 0 0 5 1 5 2000-12-01 Q15366 PCBP2_HUMAN PCBP2 Poly(rC)-binding protein 2 365 38.6 12 Nucleus; Cytoplasm 0 0 5 1 5 2000-05-30 Q16798 MAON_HUMAN ME3 NADP-dependent malic enzyme, mitochondrial 604 67.1 11 1.1.1.40 Mitochondrion matrix 0 0 5 1 5 1997-11-01 Q16825 PTN21_HUMAN PTPN21 Tyrosine-protein phosphatase non-receptor type 21 1174 133.3 14 3.1.3.48 Cytoplasm 0 0 5 1 5 1997-11-01 Q2M1P5 KIF7_HUMAN KIF7 Kinesin-like protein KIF7 1343 150.6 15 Cell projection; Cytoplasm 0 5 Bardet-Biedl syndrome; Hydrolethalus syndrome 2; Acrocallosal syndrome; Joubert syndrome 12; Al-Gazali-Bakalinova syndrome 5 1 5 2007-10-23 Q2M385 MPEG1_HUMAN MPEG1 Macrophage-expressed gene 1 protein 716 78.6 11 Cytoplasmic vesicle membrane 5 1 Immunodeficiency 77 5 1 5 2008-03-18 Q4G0J3 LARP7_HUMAN LARP7 La-related protein 7 582 66.9 4 Nucleus 0 1 Alazami syndrome 5 1 5 2007-03-20 Q5SWA1 PR15B_HUMAN PPP1R15B Protein phosphatase 1 regulatory subunit 15B 713 79.1 1 0 1 Microcephaly, short stature, and impaired glucose metabolism 2 5 1 5 2008-02-26 Q5T6F0 DCA12_HUMAN DCAF12 DDB1- and CUL4-associated factor 12 453 50.5 9 Cytoplasm; Nucleus 0 0 5 1 5 2007-10-02 Q6PJG6 BRAT1_HUMAN BRAT1 Integrator complex assembly factor BRAT1 821 88.1 7 Nucleus; Cytoplasm 0 2 Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 5 1 5 2006-10-31 Q86UY6 NAA40_HUMAN NAA40 N-alpha-acetyltransferase 40 237 27.2 11 2.3.1.257 Cytoplasm; Nucleus 0 0 5 1 5 2007-05-01 Q8IWT1 SCN4B_HUMAN SCN4B Sodium channel regulatory subunit beta-4 228 25 11 Cell membrane 1 2 Long QT syndrome 10; Atrial fibrillation, familial, 17 5 1 5 2005-01-04 Q8IWV7 UBR1_HUMAN UBR1 E3 ubiquitin-protein ligase UBR1 1749 200.2 15 2.3.2.27 Cytoplasm 0 1 Johanson-Blizzard syndrome 5 1 5 2005-08-16 Q8N488 RYBP_HUMAN RYBP RING1 and YY1-binding protein 228 24.8 3 Nucleus; Cytoplasm 0 0 5 1 5 2005-05-10 Q8TBX8 PI42C_HUMAN PIP4K2C Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma 421 47.3 12 2.7.1.149 Endoplasmic reticulum; Cytoplasm 0 0 5 1 5 2007-05-01 Q8TDU6 GPBAR_HUMAN GPBAR1 G protein-coupled bile acid receptor 1 330 35.2 2 Cell membrane 7 0 5 1 5 2005-12-06 Q8WUF5 IASPP_HUMAN PPP1R13L RelA-associated inhibitor 828 89.1 19 Cytoplasm; Nucleus 0 1 Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities 5 1 5 2003-08-15 Q8WUQ7 CATIN_HUMAN CACTIN Splicing factor Cactin 758 88.7 19 Nucleus; Cytoplasm 0 0 5 1 5 2006-04-04 Q92843 B2CL2_HUMAN BCL2L2 Bcl-2-like protein 2 193 20.7 14 Mitochondrion membrane 0 0 5 1 5 1997-11-01 Q92982 NINJ1_HUMAN NINJ1 Ninjurin-1 152 16.3 9 Cell membrane; Synaptic cell membrane 2 0 5 1 5 2000-05-30 Q969L4 LSM10_HUMAN LSM10 U7 snRNA-associated Sm-like protein LSm10 123 14.1 1 Nucleus 0 0 5 1 5 2002-04-16 Q96DZ1 ERLEC_HUMAN ERLEC1 Endoplasmic reticulum lectin 1 483 54.9 2 Endoplasmic reticulum lumen 0 0 5 1 5 2005-09-27 Q96FZ2 HMCES_HUMAN HMCES Abasic site processing protein HMCES 354 40.6 3 4.-.-.- Chromosome 0 0 5 1 5 2006-01-24 Q96RU8 TRIB1_HUMAN TRIB1 Tribbles homolog 1 372 41 8 0 0 5 1 5 2005-12-06 Q99250 SCN2A_HUMAN SCN2A Sodium channel protein type 2 subunit alpha 2005 228 2 Cell membrane 24 3 Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy 11; Episodic ataxia 9 5 1 5 1994-06-01 Q99453 PHX2B_HUMAN PHOX2B Paired mesoderm homeobox protein 2B 314 31.6 4 Nucleus 0 2 Central hypoventilation syndrome, congenital, 1; Neuroblastoma 2 5 1 5 2000-05-30 Q9BQP7 MGME1_HUMAN MGME1 Mitochondrial genome maintenance exonuclease 1 344 39.4 20 3.1.-.- Mitochondrion 0 1 Mitochondrial DNA depletion syndrome 11 5 1 5 2002-11-25 Q9BS26 ERP44_HUMAN ERP44 Endoplasmic reticulum resident protein 44 406 47 9 Endoplasmic reticulum lumen 0 0 5 1 5 2003-05-23 Q9BT17 MTG1_HUMAN MTG1 Mitochondrial ribosome-associated GTPase 1 334 37.2 10 Mitochondrion inner membrane 0 0 5 1 5 2007-03-20 Q9BZB8 CPEB1_HUMAN CPEB1 Cytoplasmic polyadenylation element-binding protein 1 566 62.6 15 Cytoplasm; Nucleus; Cytoplasmic granule; Synapse; Membrane; Postsynaptic density; Cell projection 0 0 5 1 5 2006-12-12 Q9H244 P2Y12_HUMAN P2RY12 P2Y purinoceptor 12 342 39.4 3 Cell membrane 7 1 Bleeding disorder, platelet-type, 8 5 1 5 2002-05-27 Q9H7X0 NAA60_HUMAN NAA60 N-alpha-acetyltransferase 60 242 27.5 16 2.3.1.259 Golgi apparatus membrane 0 1 Basal ganglia calcification, idiopathic, 9, autosomal recessive 5 1 5 2008-02-26 Q9HAW4 CLSPN_HUMAN CLSPN Claspin 1339 151.1 1 Nucleus 0 0 5 1 5 2005-08-30 Q9HBG6 IF122_HUMAN IFT122 Intraflagellar transport protein 122 homolog 1241 141.8 3 Cell projection; Cytoplasm 0 1 Cranioectodermal dysplasia 1 5 1 5 2002-03-27 Q9NR82 KCNQ5_HUMAN KCNQ5 Potassium voltage-gated channel subfamily KQT member 5 932 102.2 6 Cell membrane 6 1 Intellectual developmental disorder, autosomal dominant 46 5 1 5 2001-06-01 Q9NWS0 PIHD1_HUMAN PIH1D1 PIH1 domain-containing protein 1 290 32.4 19 Nucleus 0 0 5 1 5 2007-10-23 Q9NYA1 SPHK1_HUMAN SPHK1 Sphingosine kinase 1 384 42.5 17 2.7.1.91 Cytoplasm; Nucleus; Cell membrane; Endosome membrane; Membrane; Synapse 0 0 5 1 5 2001-10-24 Q9NZJ0 DTL_HUMAN DTL Denticleless protein homolog 730 79.5 1 Nucleus; Nucleus membrane; Cytoplasm; Chromosome 0 0 5 1 5 2007-02-06 Q9UG22 GIMA2_HUMAN GIMAP2 GTPase IMAP family member 2 337 38 7 Lipid droplet 0 0 5 1 5 2003-11-14 Q9UI42 CBPA4_HUMAN CPA4 Carboxypeptidase A4 421 47.4 7 3.4.17.- Secreted 0 0 5 1 5 2001-12-13 Q9UKK6 NXT1_HUMAN NXT1 NTF2-related export protein 1 140 15.8 20 Nucleus; Nucleus speckle; Cytoplasm 0 0 5 1 5 2001-08-29 Q9UL25 RAB21_HUMAN RAB21 Ras-related protein Rab-21 225 24.3 12 3.6.5.2 Endoplasmic reticulum membrane; Golgi apparatus; Golgi apparatus membrane; Early endosome membrane; Cytoplasmic vesicle membrane; Cleavage furrow; Cell projection 0 0 5 1 5 2001-04-27 Q9UM01 YLAT1_HUMAN SLC7A7 Y+L amino acid transporter 1 511 56 14 Basolateral cell membrane 12 1 Lysinuric protein intolerance 5 1 5 2001-01-24 Q9UNL4 ING4_HUMAN ING4 Inhibitor of growth protein 4 249 28.5 12 Nucleus 0 0 5 1 5 2005-01-04 Q9Y223 GLCNE_HUMAN GNE Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase 722 79.3 9 Cytoplasm 0 3 Sialuria; Nonaka myopathy; Thrombocytopenia 12 with or without myopathy 5 1 5 2004-03-15 Q9Y2K2 SIK3_HUMAN SIK3 Serine/threonine-protein kinase SIK3 1321 144.9 11 2.7.11.1 Cytoplasm 0 1 Spondyloepimetaphyseal dysplasia, Krakow type 5 1 5 2006-10-03 Q9Y421 FA32A_HUMAN FAM32A Protein FAM32A 112 13.2 19 Nucleus 0 0 5 1 5 2006-02-07 Q9Y5X5 NPFF2_HUMAN NPFFR2 Neuropeptide FF receptor 2 522 60.3 4 Cell membrane 7 0 5 1 5 2001-04-27 Q9Y6D9 MD1L1_HUMAN MAD1L1 Mitotic spindle assembly checkpoint protein MAD1 718 83.1 7 Nucleus; Chromosome; Nucleus envelope; Cytoplasm 0 1 Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 5 1 5 2004-09-27 O00230 CORT_HUMAN CORT Cortistatin 105 11.5 1 Secreted 0 0 5 1 5 1998-07-15 O00425 IF2B3_HUMAN IGF2BP3 Insulin-like growth factor 2 mRNA-binding protein 3 579 63.7 7 Nucleus; Cytoplasm 0 0 5 1 5 2007-04-03 O00451 GFRA2_HUMAN GFRA2 GDNF family receptor alpha-2 464 51.5 8 Cell membrane 0 0 5 1 5 1997-11-01 O00585 CCL21_HUMAN CCL21 C-C motif chemokine 21 134 14.6 9 Secreted 0 0 5 1 5 1999-07-15 O14617 AP3D1_HUMAN AP3D1 AP-3 complex subunit delta-1 1153 130.2 19 Cytoplasm; Golgi apparatus membrane 0 1 Hermansky-Pudlak syndrome 10 5 1 5 2002-02-11 O14920 IKKB_HUMAN IKBKB Inhibitor of nuclear factor kappa-B kinase subunit beta 756 86.6 8 2.7.11.10 Cytoplasm; Nucleus; Membrane raft 0 2 Immunodeficiency 15B; Immunodeficiency 15A 5 1 5 2001-06-01 O43426 SYNJ1_HUMAN SYNJ1 Polyphosphatidylinositol phosphatase SYNJ1 1573 173.1 21 Cytoplasm; Presynapse; Membrane 0 2 Parkinson disease 20, early-onset; Developmental and epileptic encephalopathy 53 5 1 5 2000-05-30 O43766 LIAS_HUMAN LIAS Lipoyl synthase, mitochondrial 372 41.9 4 2.8.1.8 Mitochondrion 0 1 Hyperglycinemia, lactic acidosis, and seizures 5 1 5 2002-10-10 O60704 TPST2_HUMAN TPST2 Protein-tyrosine sulfotransferase 2 377 41.9 22 2.8.2.20 Golgi apparatus membrane 1 0 5 1 5 2000-05-30 O75317 UBP12_HUMAN USP12 Ubiquitin carboxyl-terminal hydrolase 12 370 42.9 13 3.4.19.12 Nucleus; Cytoplasm; Cell membrane 0 0 5 1 5 2000-05-30 O75822 EIF3J_HUMAN EIF3J Eukaryotic translation initiation factor 3 subunit J 258 29.1 15 Cytoplasm 0 0 5 1 5 2000-05-30 O75886 STAM2_HUMAN STAM2 Signal transducing adapter molecule 2 525 58.2 2 Cytoplasm; Early endosome membrane 0 0 5 1 5 2005-07-19 O95163 ELP1_HUMAN ELP1 Elongator complex protein 1 1332 150.3 9 Cytoplasm; Nucleus 0 2 Dysautonomia, familial; Medulloblastoma 5 1 5 2001-06-20 O95390 GDF11_HUMAN GDF11 Growth/differentiation factor 11 407 45.1 12 Secreted 0 1 Vertebral hypersegmentation and orofacial anomalies 5 1 5 2001-01-24 O95631 NET1_HUMAN NTN1 Netrin-1 604 67.7 17 Secreted; Cytoplasm 0 1 Mirror movements 4 5 1 5 2002-11-15 O95999 BCL10_HUMAN BCL10 B-cell lymphoma/leukemia 10 233 26.3 1 Cytoplasm; Membrane raft 0 2 Immunodeficiency 37; Lymphoma, mucosa-associated lymphoid type 5 1 5 2002-05-02 P01282 VIP_HUMAN VIP VIP peptides 170 19.2 6 Secreted 0 0 5 1 5 1986-07-21 P08574 CY1_HUMAN CYC1 Cytochrome c1, heme protein, mitochondrial 325 35.4 8 7.1.1.8 Mitochondrion inner membrane 1 1 Mitochondrial complex III deficiency, nuclear type 6 5 1 5 1988-08-01 P0DJD7 PEPA4_HUMAN PGA4 Pepsin A-4 388 42 11 3.4.23.1 Secreted 0 0 5 1 5 2012-02-22 P11274 BCR_HUMAN BCR Breakpoint cluster region protein 1271 142.8 22 2.7.11.1 Postsynaptic density; Cell projection; Synapse 0 1 Leukemia, chronic myeloid 5 1 5 1989-07-01 P11912 CD79A_HUMAN CD79A B-cell antigen receptor complex-associated protein alpha chain 226 25 19 Cell membrane 1 1 Agammaglobulinemia 3, autosomal recessive 5 1 5 1989-10-01 P13637 AT1A3_HUMAN ATP1A3 Sodium/potassium-transporting ATPase subunit alpha-3 1013 111.7 19 7.2.2.13 Cell membrane 10 4 Dystonia 12; Alternating hemiplegia of childhood 2; Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; Developmental and epileptic encephalopathy 99 5 1 5 1990-01-01 P14207 FOLR2_HUMAN FOLR2 Folate receptor beta 255 29.3 11 Cell membrane; Secreted 0 0 5 1 5 1990-01-01 P14778 IL1R1_HUMAN IL1R1 Interleukin-1 receptor type 1 569 65.4 2 3.2.2.6 Membrane; Cell membrane; Secreted 1 1 Chronic recurrent multifocal osteomyelitis 3 5 1 5 1990-04-01 P14927 QCR7_HUMAN UQCRB Cytochrome b-c1 complex subunit 7 111 13.5 8 Mitochondrion inner membrane 0 1 Mitochondrial complex III deficiency, nuclear type 3 5 1 5 1990-04-01 P15884 ITF2_HUMAN TCF4 Transcription factor 4 667 71.3 18 Nucleus 0 2 Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 5 1 5 1990-04-01 P19652 A1AG2_HUMAN ORM2 Alpha-1-acid glycoprotein 2 201 23.6 9 Secreted 0 0 5 1 5 1991-02-01 P19801 AOC1_HUMAN AOC1 Diamine oxidase [copper-containing] 751 85.4 7 1.4.3.22 Secreted; Cell membrane 0 0 5 1 5 1991-02-01 P20783 NTF3_HUMAN NTF3 Neurotrophin-3 257 29.4 12 Secreted 0 0 5 1 5 1991-02-01 P25963 IKBA_HUMAN NFKBIA NF-kappa-B inhibitor alpha 317 35.6 14 Cytoplasm; Nucleus 0 1 Ectodermal dysplasia and immunodeficiency 2 5 1 5 1992-05-01 P26440 IVD_HUMAN IVD Isovaleryl-CoA dehydrogenase, mitochondrial 426 46.7 15 1.3.8.4 Mitochondrion matrix 0 1 Isovaleric acidemia 5 1 5 1992-08-01 P26842 CD27_HUMAN CD27 CD27 antigen 260 29.1 12 Cell membrane 1 1 Lymphoproliferative syndrome 2 5 1 5 1992-08-01 P26992 CNTFR_HUMAN CNTFR Ciliary neurotrophic factor receptor subunit alpha 372 40.6 9 Cell membrane; Secreted 0 0 5 1 5 1992-08-01 P31939 PUR9_HUMAN ATIC Bifunctional purine biosynthesis protein ATIC 592 64.6 2 Cytoplasm 0 1 AICA-ribosuria due to ATIC deficiency 5 1 5 1993-07-01 P31994 FCG2B_HUMAN FCGR2B Low affinity immunoglobulin gamma Fc region receptor II-b 310 34 1 Cell membrane 1 1 Systemic lupus erythematosus 5 1 5 1993-07-01 P45844 ABCG1_HUMAN ABCG1 ATP-binding cassette sub-family G member 1 678 75.6 21 7.6.2.- Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell membrane 6 0 5 1 5 1995-11-01 P49286 MTR1B_HUMAN MTNR1B Melatonin receptor type 1B 362 40.2 11 Cell membrane 7 0 5 1 5 1996-02-01 P49321 NASP_HUMAN NASP Nuclear autoantigenic sperm protein 788 85.2 1 Cytoplasm; Nucleus 0 0 5 1 5 1996-02-01 P49459 UBE2A_HUMAN UBE2A Ubiquitin-conjugating enzyme E2 A 152 17.3 X 2.3.2.23 Late endosome; Lysosome 0 1 Intellectual developmental disorder, X-linked, syndromic, Nascimento-type 5 1 5 1996-02-01 P49683 PRLHR_HUMAN PRLHR Prolactin-releasing peptide receptor 370 41.1 10 Cell membrane 7 0 5 1 5 1996-02-01 P49802 RGS7_HUMAN RGS7 Regulator of G protein signaling 7 495 57.7 1 Cytoplasm; Cell membrane; Membrane 0 0 5 1 5 1996-10-01 P49888 ST1E1_HUMAN SULT1E1 Sulfotransferase 1E1 294 35.1 4 2.8.2.4 Cytoplasm 0 0 5 1 5 1996-10-01 P51649 SSDH_HUMAN ALDH5A1 Succinate-semialdehyde dehydrogenase, mitochondrial 535 57.2 6 1.2.1.24 Mitochondrion 0 1 Succinic semialdehyde dehydrogenase deficiency 5 1 5 1996-10-01 P51790 CLCN3_HUMAN CLCN3 H(+)/Cl(-) exchange transporter 3 818 91 4 Early endosome membrane; Late endosome membrane; Lysosome membrane; Cell membrane 10 2 Neurodevelopmental disorder with hypotonia and brain abnormalities; Neurodevelopmental disorder with seizures and brain abnormalities 5 1 5 1996-10-01 P54136 SYRC_HUMAN RARS1 Arginine--tRNA ligase, cytoplasmic 660 75.4 5 6.1.1.19 Cytoplasm 0 1 Leukodystrophy, hypomyelinating, 9 5 1 5 1996-10-01 P68133 ACTS_HUMAN ACTA1 Actin, alpha skeletal muscle 377 42.1 1 3.6.4.- Cytoplasm 0 4 Congenital myopathy 2A, typical, autosomal dominant; Congenital myopathy 2B, severe infantile, autosomal recessive; Congenital myopathy 2C, severe infantile, autosomal dominant; Myopathy, scapulohumeroperoneal 5 1 5 1986-07-21 Q13303 KCAB2_HUMAN KCNAB2 Voltage-gated potassium channel subunit beta-2 367 41 1 1.1.1.- Cytoplasm; Membrane; Cell membrane; Cell projection; Synapse 0 0 5 1 5 2001-10-18 Q13342 SP140_HUMAN SP140 Nuclear body protein SP140 867 98.2 2 Nucleus; Cytoplasm 0 0 5 1 5 1999-07-15 Q14678 KANK1_HUMAN KANK1 KN motif and ankyrin repeat domain-containing protein 1 1352 147.3 9 Cytoplasm; Cell projection; Nucleus 0 1 Cerebral palsy, spastic quadriplegic 2 5 1 5 2003-08-29 Q15311 RBP1_HUMAN RALBP1 RalA-binding protein 1 655 76.1 18 Cell membrane; Cytoplasm; Nucleus; Mitochondrion 0 0 5 1 5 2003-08-15 Q15431 SYCP1_HUMAN SYCP1 Synaptonemal complex protein 1 976 114.2 1 Nucleus; Chromosome 0 0 5 1 5 1998-07-15 Q15468 STIL_HUMAN STIL SCL-interrupting locus protein 1287 143 1 Cytoplasm 0 1 Microcephaly 7, primary, autosomal recessive 5 1 5 2007-01-09 Q53H47 SETMR_HUMAN SETMAR Histone-lysine N-methyltransferase SETMAR 684 78 3 Nucleus; Chromosome 0 0 5 1 5 2006-10-31 Q5EE01 CENPW_HUMAN CENPW Centromere protein W 88 10.1 6 Nucleus; Chromosome; Nucleus matrix 0 0 5 1 5 2007-11-13 Q5MNZ6 WIPI3_HUMAN WDR45B WD repeat domain phosphoinositide-interacting protein 3 344 38.1 17 Preautophagosomal structure; Lysosome 0 1 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 5 1 5 2006-01-10 Q5T4W7 ARTN_HUMAN ARTN Artemin 220 22.9 1 Secreted 0 0 5 1 5 2006-06-13 Q63HR2 TENS2_HUMAN TNS2 Tensin-2 1409 152.6 12 3.1.3.48 Cell junction; Cell membrane; Cytoplasm 0 0 5 1 5 2007-06-26 Q76LX8 ATS13_HUMAN ADAMTS13 A disintegrin and metalloproteinase with thrombospondin motifs 13 1427 153.6 9 3.4.24.87 Secreted 0 1 Thrombotic thrombocytopenic purpura, hereditary 5 1 5 2006-07-25 Q7L2J0 MEPCE_HUMAN MEPCE 7SK snRNA methylphosphate capping enzyme 689 74.4 7 2.1.1.- Nucleus 0 0 5 1 5 2007-05-29 Q7Z6A9 BTLA_HUMAN BTLA B- and T-lymphocyte attenuator 289 32.8 3 Cell membrane 1 0 5 1 5 2005-07-19 Q86Y07 VRK2_HUMAN VRK2 Serine/threonine-protein kinase VRK2 508 58.1 2 2.7.11.1 Cytoplasm; Endoplasmic reticulum membrane; Mitochondrion membrane; Nucleus envelope 1 0 5 1 5 2003-10-10 Q8IWU9 TPH2_HUMAN TPH2 Tryptophan 5-hydroxylase 2 490 56.1 12 1.14.16.4 0 2 Major depressive disorder; Attention deficit-hyperactivity disorder 7 5 1 5 2003-05-09 Q8IX03 KIBRA_HUMAN WWC1 Protein KIBRA 1113 125.3 5 Cytoplasm; Nucleus; Cell projection 0 0 5 1 5 2006-06-27 Q8NAC3 I17RC_HUMAN IL17RC Interleukin-17 receptor C 791 86.2 3 Cell membrane 1 1 Candidiasis, familial, 9 5 1 5 2005-06-21 Q8TCF1 ZFAN1_HUMAN ZFAND1 AN1-type zinc finger protein 1 268 30.8 8 Cytoplasm 0 0 5 1 5 2005-08-16 Q8WTT0 CLC4C_HUMAN CLEC4C C-type lectin domain family 4 member C 213 25 12 Cell membrane 1 0 5 1 5 2005-02-15 Q8WUW1 BRK1_HUMAN BRK1 Protein BRICK1 75 8.7 3 Cytoplasm 0 0 5 1 5 2007-04-03 Q96C19 EFHD2_HUMAN EFHD2 EF-hand domain-containing protein D2 240 26.7 1 Membrane raft 0 0 5 1 5 2002-01-23 Q96FV9 THOC1_HUMAN THOC1 THO complex subunit 1 657 75.7 18 Nucleus speckle; Nucleus; Nucleus matrix; Cytoplasm 0 1 Deafness, autosomal dominant, 86 5 1 5 2003-10-10 Q96MD2 KICS2_HUMAN KICS2 KICSTOR subunit 2 445 50.4 12 Lysosome membrane 0 1 Intellectual developmental disorder, autosomal recessive 83 5 1 5 2008-02-26 Q96NY8 NECT4_HUMAN NECTIN4 Nectin-4 510 55.5 1 Cell membrane; Cell junction 1 1 Ectodermal dysplasia-syndactyly syndrome 1 5 1 5 2007-08-21 Q96PH1 NOX5_HUMAN NOX5 NADPH oxidase 5 765 86.4 15 1.-.-.-, 1.6.3.- Endoplasmic reticulum; Cell membrane 7 0 5 1 5 2006-03-07 Q9NR30 DDX21_HUMAN DDX21 Nucleolar RNA helicase 2 783 87.3 10 3.6.4.13 Nucleus; Cytoplasm; Mitochondrion 0 0 5 1 5 2001-04-27 Q9NW15 ANO10_HUMAN ANO10 Anoctamin-10 660 76.3 3 Cell membrane 8 1 Spinocerebellar ataxia, autosomal recessive, 10 5 1 5 2007-05-29 Q9NX02 NALP2_HUMAN NLRP2 NACHT, LRR and PYD domains-containing protein 2 1062 120.5 19 Cytoplasm 0 1 Oocyte/zygote/embryo maturation arrest 18 5 1 5 2001-10-18 Q9NYZ4 SIGL8_HUMAN SIGLEC8 Sialic acid-binding Ig-like lectin 8 499 54 19 Membrane 1 0 5 1 5 2002-11-08 Q9P287 BCCIP_HUMAN BCCIP BRCA2 and CDKN1A-interacting protein 314 36 10 Nucleus; Cytoplasm 0 0 5 1 5 2006-09-19 Q9UBG0 MRC2_HUMAN MRC2 C-type mannose receptor 2 1479 166.7 17 Membrane 1 0 5 1 5 2006-02-07 Q9UDW3 ZMAT5_HUMAN ZMAT5 Zinc finger matrin-type protein 5 170 20 22 Nucleus 0 0 5 1 5 2006-10-31 Q9UIS9 MBD1_HUMAN MBD1 Methyl-CpG-binding domain protein 1 605 66.6 18 Nucleus; Nucleus matrix; Nucleus speckle; Chromosome 0 0 5 1 5 2004-07-19 Q9UL46 PSME2_HUMAN PSME2 Proteasome activator complex subunit 2 239 27.4 14 0 0 5 1 5 2001-08-29 Q9Y237 PIN4_HUMAN PIN4 Peptidyl-prolyl cis-trans isomerase NIMA-interacting 4 131 13.8 X 5.2.1.8 Nucleus; Cytoplasm 0 0 5 1 5 2002-01-23 Q9Y2A7 NCKP1_HUMAN NCKAP1 Nck-associated protein 1 1128 128.8 2 Cell membrane; Cell projection 1 0 5 1 5 2001-01-11 Q9Y2G2 CARD8_HUMAN CARD8 Caspase recruitment domain-containing protein 8 537 60.7 19 3.4.-.- Cytoplasm; Nucleus 0 1 Inflammatory bowel disease 30 5 1 5 2001-06-20 Q9Y2W6 TDRKH_HUMAN TDRKH Tudor and KH domain-containing protein 561 62 1 Cytoplasm; Mitochondrion 0 0 5 1 5 2003-12-15 Q9Y3I0 RTCB_HUMAN RTCB RNA-splicing ligase RTCB 505 55.2 22 6.5.1.8 Nucleus; Cytoplasm 0 0 5 1 5 2006-10-31 Q9Y606 PUS1_HUMAN PUS1 Pseudouridylate synthase 1 homolog 427 47.5 12 5.4.99.- Mitochondrion 0 1 Myopathy with lactic acidosis and sideroblastic anemia 1 5 1 5 2000-05-30 O14732 IMPA2_HUMAN IMPA2 Inositol monophosphatase 2 288 31.3 18 3.1.3.25 Cytoplasm 0 0 5 1 5 1998-12-15 O14874 BCKD_HUMAN BCKDK Branched-chain alpha-ketoacid dehydrogenase kinase 412 46.4 16 2.7.11.1 Mitochondrion matrix 0 1 Branched-chain ketoacid dehydrogenase kinase deficiency 5 1 5 1998-07-15 O14964 HGS_HUMAN HGS Hepatocyte growth factor-regulated tyrosine kinase substrate 777 86.2 17 Cytoplasm; Early endosome membrane; Endosome 0 0 5 1 5 2005-07-19 O15550 KDM6A_HUMAN KDM6A Lysine-specific demethylase 6A 1401 154.2 X 1.14.11.68 Nucleus 0 1 Kabuki syndrome 2 5 1 5 1999-07-15 O75154 RFIP3_HUMAN RAB11FIP3 Rab11 family-interacting protein 3 756 82.4 16 Endosome membrane; Recycling endosome membrane; Cytoplasm; Cleavage furrow; Midbody; Golgi apparatus membrane; Golgi apparatus 0 0 5 1 5 2001-06-20 O94851 MICA2_HUMAN MICAL2 [F-actin]-monooxygenase MICAL2 1957 219.1 11 1.14.13.225 Nucleus; Cytoplasm 0 0 5 1 5 2004-04-13 O94888 UBXN7_HUMAN UBXN7 UBX domain-containing protein 7 489 54.9 3 Nucleus 0 0 5 1 5 2005-08-16 O95180 CAC1H_HUMAN CACNA1H Voltage-dependent T-type calcium channel subunit alpha-1H 2353 259.2 16 Cell membrane 24 3 Epilepsy, idiopathic generalized 6; Epilepsy, childhood absence 6; Hyperaldosteronism, familial, 4 5 1 5 1999-07-15 O95433 AHSA1_HUMAN AHSA1 Activator of 90 kDa heat shock protein ATPase homolog 1 338 38.3 14 Cytoplasm; Endoplasmic reticulum 0 0 5 1 5 2001-02-21 P00995 ISK1_HUMAN SPINK1 Serine protease inhibitor Kazal-type 1 79 8.5 5 Secreted 0 2 Pancreatitis, hereditary; Tropical calcific pancreatitis 5 1 5 1986-07-21 P01619 KV320_HUMAN IGKV3-20 Immunoglobulin kappa variable 3-20 116 12.6 2 Secreted; Cell membrane 0 0 5 1 5 1986-07-21 P03897 NU3M_HUMAN MT-ND3 NADH-ubiquinone oxidoreductase chain 3 115 13.2 MT 7.1.1.2 Mitochondrion inner membrane 3 2 Leigh syndrome; Mitochondrial complex I deficiency, mitochondrial type 1 5 1 5 1986-07-21 P05155 IC1_HUMAN SERPING1 Plasma protease C1 inhibitor 500 55.2 11 Secreted 0 1 Angioedema, hereditary, 1 5 1 5 1987-08-13 P06858 LIPL_HUMAN LPL Lipoprotein lipase 475 53.2 8 3.1.1.34 Cell membrane; Secreted 0 2 Hyperlipoproteinemia 1; Hyperlipidemia, familial combined, 3 5 1 5 1988-01-01 P07919 QCR6_HUMAN UQCRH Cytochrome b-c1 complex subunit 6, mitochondrial 91 10.7 1 Mitochondrion inner membrane 0 1 Mitochondrial complex III deficiency, nuclear type 11 5 1 5 1988-08-01 P08151 GLI1_HUMAN GLI1 Transcription activator GLI1 1106 117.9 12 Cytoplasm; Nucleus; Cell projection 0 2 Polydactyly, postaxial, A8; Polydactyly, preaxial 1 5 1 5 1988-08-01 P0DMV9 HS71B_HUMAN HSPA1B Heat shock 70 kDa protein 1B 641 70.1 6 Cytoplasm 0 0 5 1 5 2015-05-27 P15328 FOLR1_HUMAN FOLR1 Folate receptor alpha 257 29.8 11 Cell membrane; Apical cell membrane; Basolateral cell membrane; Secreted; Cytoplasmic vesicle; Endosome 0 1 Neurodegeneration due to cerebral folate transport deficiency 5 1 5 1990-04-01 P17181 INAR1_HUMAN IFNAR1 Interferon alpha/beta receptor 1 557 63.5 21 Cell membrane; Late endosome; Lysosome 1 1 Immunodeficiency 106, susceptibility to viral infections 5 1 5 1990-08-01 P17858 PFKAL_HUMAN PFKL ATP-dependent 6-phosphofructokinase, liver type 780 85 21 2.7.1.11 Cytoplasm 0 0 5 1 5 1990-08-01 P18054 LOX12_HUMAN ALOX12 Polyunsaturated fatty acid lipoxygenase ALOX12 663 75.7 17 1.13.11.- Cytoplasm; Membrane 0 2 Esophageal cancer; Colorectal cancer 5 1 5 1990-11-01 P20849 CO9A1_HUMAN COL9A1 Collagen alpha-1(IX) chain 921 91.9 6 Secreted 0 2 Multiple epiphyseal dysplasia 6; Stickler syndrome 4 5 1 5 1991-02-01 P25024 CXCR1_HUMAN CXCR1 C-X-C chemokine receptor type 1 350 39.8 2 Cell membrane 7 0 5 1 5 1992-05-01 P25101 EDNRA_HUMAN EDNRA Endothelin-1 receptor 427 48.7 4 Cell membrane 7 1 Mandibulofacial dysostosis with alopecia 5 1 5 1992-05-01 P26715 NKG2A_HUMAN KLRC1 NKG2-A/NKG2-B type II integral membrane protein 233 26.3 12 Cell membrane 1 0 5 1 5 1992-08-01 P27105 STOM_HUMAN STOM Stomatin 288 31.7 9 Cell membrane; Cytoplasm; Membrane raft; Melanosome; Cytoplasmic vesicle 0 0 5 1 5 1992-08-01 P32019 I5P2_HUMAN INPP5B Type II inositol 1,4,5-trisphosphate 5-phosphatase 993 112.9 1 3.1.3.36, 3.1.3.56 Cytoplasm; Endoplasmic reticulum-Golgi intermediate compartment; Early endosome membrane; Membrane; Cytoplasmic vesicle; Golgi apparatus 0 0 5 1 5 1993-07-01 P33764 S10A3_HUMAN S100A3 Protein S100-A3 101 11.7 1 Cytoplasm 0 0 5 1 5 1994-02-01 P37288 V1AR_HUMAN AVPR1A Vasopressin V1a receptor 418 46.8 12 Cell membrane 7 0 5 1 5 1994-10-01 P42229 STA5A_HUMAN STAT5A Signal transducer and activator of transcription 5A 794 90.6 17 Cytoplasm; Nucleus 0 0 5 1 5 1995-11-01 P43003 EAA1_HUMAN SLC1A3 Excitatory amino acid transporter 1 542 59.6 5 Cell membrane 8 1 Episodic ataxia 6 5 1 5 1995-11-01 P45984 MK09_HUMAN MAPK9 Mitogen-activated protein kinase 9 424 48.1 5 2.7.11.24 Cytoplasm; Nucleus 0 0 5 1 5 1995-11-01 P47985 UCRI_HUMAN UQCRFS1 Cytochrome b-c1 complex subunit Rieske, mitochondrial 274 29.7 19 7.1.1.8 Mitochondrion inner membrane 1 1 Mitochondrial complex III deficiency, nuclear type 10 5 1 5 1996-02-01 P48729 KC1A_HUMAN CSNK1A1 Casein kinase I isoform alpha 337 38.9 5 2.7.11.1 Cytoplasm; Chromosome; Nucleus speckle 0 0 5 1 5 1996-02-01 P49116 NR2C2_HUMAN NR2C2 Nuclear receptor subfamily 2 group C member 2 596 65.4 3 Nucleus 0 0 5 1 5 1996-02-01 P51170 SCNNG_HUMAN SCNN1G Epithelial sodium channel subunit gamma 649 74.3 16 Apical cell membrane 2 3 Liddle syndrome 2; Bronchiectasis with or without elevated sweat chloride 3; Pseudohypoaldosteronism 1B3, autosomal recessive 5 1 5 1996-10-01 P55042 RAD_HUMAN RRAD GTP-binding protein RAD 308 33.2 16 Cell membrane 0 0 5 1 5 1996-10-01 P56945 BCAR1_HUMAN BCAR1 Breast cancer anti-estrogen resistance protein 1 870 93.4 16 Cell junction; Cytoplasm; Cell projection 0 0 5 1 5 2000-05-30 P62068 UBP46_HUMAN USP46 Ubiquitin carboxyl-terminal hydrolase 46 366 42.4 4 3.4.19.12 Cytoplasm 0 0 5 1 5 2004-06-21 Q00688 FKBP3_HUMAN FKBP3 Peptidyl-prolyl cis-trans isomerase FKBP3 224 25.2 14 5.2.1.8 Nucleus 0 0 5 1 5 1993-04-01 Q01101 INSM1_HUMAN INSM1 Insulinoma-associated protein 1 510 52.9 20 Nucleus 0 0 5 1 5 1994-06-01 Q01726 MSHR_HUMAN MC1R Melanocyte-stimulating hormone receptor 317 34.7 16 Cell membrane 7 1 Melanoma, cutaneous malignant 5 5 1 5 1993-07-01 Q02246 CNTN2_HUMAN CNTN2 Contactin-2 1040 113.4 1 Cell membrane 0 1 Epilepsy, early-onset, 5, with or without developmental delay 5 1 5 1993-07-01 Q02252 MMSA_HUMAN ALDH6A1 Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial 535 57.8 14 1.2.1.27 Mitochondrion 0 1 Methylmalonate semialdehyde dehydrogenase deficiency 5 1 5 1993-07-01 Q12913 PTPRJ_HUMAN PTPRJ Receptor-type tyrosine-protein phosphatase eta 1337 145.9 11 3.1.3.48 Cell membrane; Cell projection; Cell junction 1 1 Thrombocytopenia 10 5 1 5 1997-11-01 Q13336 UT1_HUMAN SLC14A1 Urea transporter 1 389 42.5 18 Cell membrane; Basolateral cell membrane 9 0 5 1 5 1997-11-01 Q13480 GAB1_HUMAN GAB1 GRB2-associated-binding protein 1 694 76.6 4 0 1 Deafness, autosomal recessive, 26 5 1 5 2004-04-13 Q14241 ELOA1_HUMAN ELOA Elongin-A 772 87.2 1 Nucleus 0 0 5 1 5 2003-07-11 Q14626 I11RA_HUMAN IL11RA Interleukin-11 receptor subunit alpha 422 45.2 9 Membrane 1 1 Craniosynostosis and dental anomalies 5 1 5 2004-11-23 Q14997 PSME4_HUMAN PSME4 Proteasome activator complex subunit 4 1843 211.3 2 Cytoplasm; Nucleus; Nucleus speckle 0 0 5 1 5 2007-03-20 Q15118 PDK1_HUMAN PDK1 [Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial 436 49.2 2 2.7.11.2 Mitochondrion matrix 0 0 5 1 5 1998-07-15 Q15828 CYTM_HUMAN CST6 Cystatin-M 149 16.5 11 Secreted 0 1 Ectodermal dysplasia 15, hypohidrotic/hair type 5 1 5 1997-11-01 Q16288 NTRK3_HUMAN NTRK3 NT-3 growth factor receptor 839 94.4 15 2.7.10.1 Membrane 1 0 5 1 5 1997-11-01 Q16644 MAPK3_HUMAN MAPKAPK3 MAP kinase-activated protein kinase 3 382 43 3 2.7.11.1 Nucleus; Cytoplasm 0 1 Macular dystrophy, patterned, 3 5 1 5 2005-12-06 Q16832 DDR2_HUMAN DDR2 Discoidin domain-containing receptor 2 855 96.7 1 2.7.10.1 Cell membrane 1 2 Spondyloepimetaphyseal dysplasia, short limb-hand type; Warburg-Cinotti syndrome 5 1 5 1997-11-01 Q4G0N4 NADK2_HUMAN NADK2 NAD kinase 2, mitochondrial 442 49.4 5 2.7.1.23 Mitochondrion 0 1 2,4-dienoyl-CoA reductase deficiency 5 1 5 2007-07-24 Q53H80 AKIR2_HUMAN AKIRIN2 Akirin-2 203 22.5 6 Nucleus; Cytoplasm; Membrane 0 0 5 1 5 2005-07-19 Q5VWP2 TET5C_HUMAN TENT5C Terminal nucleotidyltransferase 5C 391 44.9 1 2.7.7.19 Nucleus; Cytoplasm 0 0 5 1 5 2006-11-14 Q6GTX8 LAIR1_HUMAN LAIR1 Leukocyte-associated immunoglobulin-like receptor 1 287 31.5 19 Cell membrane 1 0 5 1 5 2006-10-03 Q6PI98 IN80C_HUMAN INO80C INO80 complex subunit C 192 20.6 18 Nucleus 0 0 5 1 5 2005-07-05 Q6UX46 ALKL2_HUMAN ALKAL2 ALK and LTK ligand 2 152 16.9 2 Secreted; Cell membrane 0 0 5 1 5 2008-02-05 Q7L576 CYFP1_HUMAN CYFIP1 Cytoplasmic FMR1-interacting protein 1 1253 145.2 15 Cytoplasm; Cell projection; Synapse 0 0 5 1 5 2007-03-06 Q7Z4S6 KI21A_HUMAN KIF21A Kinesin-like protein KIF21A 1674 187.2 12 Cytoplasm; Cell projection 0 1 Fibrosis of extraocular muscles, congenital, 1 5 1 5 2004-07-19 Q86UL8 MAGI2_HUMAN MAGI2 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 1455 158.8 7 Cytoplasm; Late endosome; Synapse; Cell membrane; Cell projection; Photoreceptor inner segment 0 1 Nephrotic syndrome 15 5 1 5 2003-10-03 Q86US8 EST1A_HUMAN SMG6 Telomerase-binding protein EST1A 1419 160.5 17 3.1.-.- Nucleus; Chromosome; Cytoplasm 0 0 5 1 5 2004-05-24 Q86UW2 OSTB_HUMAN SLC51B Organic solute transporter subunit beta 128 14.3 15 Basolateral cell membrane 1 1 Bile acid malabsorption, primary, 2 5 1 5 2008-04-29 Q8IW75 SPA12_HUMAN SERPINA12 Serpin A12 414 47.2 14 Secreted 0 0 5 1 5 2005-09-27 Q8IZF0 NALCN_HUMAN NALCN Sodium leak channel NALCN 1738 200.3 13 Cell membrane 24 2 Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 5 1 5 2008-01-15 Q8NFH5 NUP35_HUMAN NUP35 Nucleoporin NUP35 326 34.8 2 Nucleus; Nucleus membrane 0 0 5 1 5 2006-05-16 Q8TEV9 SMCR8_HUMAN SMCR8 Guanine nucleotide exchange protein SMCR8 937 105 17 Cytoplasm; Nucleus; Presynapse; Postsynapse 0 0 5 1 5 2007-05-15 Q92522 H1X_HUMAN H1-10 Histone H1.10 213 22.5 3 Nucleus; Chromosome 0 0 5 1 5 1999-07-15 Q92558 WASF1_HUMAN WASF1 Actin-binding protein WASF1 559 61.7 6 Cytoplasm; Synapse; Cell junction 0 1 Neurodevelopmental disorder with absent language and variable seizures 5 1 5 1997-11-01 Q92841 DDX17_HUMAN DDX17 Probable ATP-dependent RNA helicase DDX17 729 80.3 22 3.6.4.13 Nucleus; Cytoplasm 0 0 5 1 5 1998-07-15 Q92922 SMRC1_HUMAN SMARCC1 SWI/SNF complex subunit SMARCC1 1105 122.9 3 Nucleus; Cytoplasm 0 1 Hydrocephalus, congenital, 5 5 1 5 2005-01-04 Q93091 RNAS6_HUMAN RNASE6 Ribonuclease K6 150 17.2 14 3.1.27.- Secreted; Lysosome; Cytoplasmic granule 0 0 5 1 5 1997-11-01 Q96BH1 RNF25_HUMAN RNF25 E3 ubiquitin-protein ligase RNF25 459 51.2 2 2.3.2.27 Cytoplasm 0 0 5 1 5 2002-06-06 Q96BP3 PPWD1_HUMAN PPWD1 Peptidylprolyl isomerase domain and WD repeat-containing protein 1 646 73.6 5 5.2.1.8 Nucleus 0 0 5 1 5 2006-06-13 Q96MF2 STAC3_HUMAN STAC3 SH3 and cysteine-rich domain-containing protein 3 364 41.5 12 Cytoplasm; Cell membrane 0 1 Congenital myopathy 13 5 1 5 2006-04-18 Q96RP9 EFGM_HUMAN GFM1 Elongation factor G, mitochondrial 751 83.5 3 3.6.5.- Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 1 5 1 5 2003-01-27 Q9BQE4 SELS_HUMAN SELENOS Selenoprotein S 189 21.2 15 Endoplasmic reticulum membrane; Cytoplasm 1 0 5 1 5 2003-08-04 Q9BRJ7 TIRR_HUMAN NUDT16L1 Tudor-interacting repair regulator protein 211 23.3 16 Nucleus 0 0 5 1 5 2005-07-05 Q9BXC1 GP174_HUMAN GPR174 Probable G protein-coupled receptor 174 333 38.5 X Cell membrane 7 0 5 1 5 2002-05-27 Q9BXJ8 TACAN_HUMAN TMEM120A Transmembrane protein 120A 343 40.6 7 Cell membrane; Nucleus inner membrane; Endoplasmic reticulum 6 0 5 1 5 2007-11-13 Q9H227 GBA3_HUMAN GBA3 Cytosolic beta-glucosidase 469 53.7 3.2.1.21 Cytoplasm 0 0 5 1 5 2005-10-11 Q9H765 ASB8_HUMAN ASB8 Ankyrin repeat and SOCS box protein 8 288 31.6 12 Cytoplasm 0 0 5 1 5 2003-02-28 Q9H7B2 RPF2_HUMAN RPF2 Ribosome production factor 2 homolog 306 35.6 6 Nucleus 0 0 5 1 5 2001-09-26 Q9HBL8 NMRL1_HUMAN NMRAL1 NmrA-like family domain-containing protein 1 299 33.3 16 Cytoplasm; Nucleus 0 0 5 1 5 2007-02-20 Q9P202 WHRN_HUMAN WHRN Whirlin 907 96.6 9 Cytoplasm; Cell projection; Photoreceptor inner segment; Synapse 0 2 Deafness, autosomal recessive, 31; Usher syndrome 2D 5 1 5 2004-12-07 Q9P278 FNIP2_HUMAN FNIP2 Folliculin-interacting protein 2 1114 122.1 4 Lysosome membrane; Cytoplasm 0 0 5 1 5 2008-02-26 Q9Y263 PLAP_HUMAN PLAA Phospholipase A-2-activating protein 795 87.2 9 Nucleus; Cytoplasm; Synapse 0 1 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 5 1 5 2001-01-11 Q9Y371 SHLB1_HUMAN SH3GLB1 Endophilin-B1 365 40.8 1 Cytoplasm; Golgi apparatus membrane; Mitochondrion outer membrane; Cytoplasmic vesicle; Midbody 0 0 5 1 5 2004-01-16 O00170 AIP_HUMAN AIP AH receptor-interacting protein 330 37.7 11 Cytoplasm 0 1 Pituitary adenoma 1, multiple types 5 1 5 2000-05-30 O14494 PLPP1_HUMAN PLPP1 Phospholipid phosphatase 1 284 32.2 5 3.1.3.-, 3.1.3.106, 3.1.3.4, 3.6.1.75 Cell membrane; Apical cell membrane; Membrane raft; Membrane 6 0 5 1 5 2004-03-15 O14791 APOL1_HUMAN APOL1 Apolipoprotein L1 398 44 22 Secreted 0 1 Focal segmental glomerulosclerosis 4 5 1 5 1998-07-15 O14793 GDF8_HUMAN MSTN Growth/differentiation factor 8 375 42.8 2 Secreted 0 1 Muscle hypertrophy 5 1 5 1999-07-15 O15145 ARPC3_HUMAN ARPC3 Actin-related protein 2/3 complex subunit 3 178 20.5 12 Cytoplasm; Cell projection; Nucleus 0 0 5 1 5 1998-07-15 O15344 TRI18_HUMAN MID1 E3 ubiquitin-protein ligase MID1 667 75.3 X 2.3.2.27 Cytoplasm 0 1 Opitz GBBB syndrome 5 1 5 2002-08-30 O15381 NVL_HUMAN NVL Nuclear valosin-containing protein-like 856 95.1 1 Nucleus 0 0 5 1 5 2003-07-11 O43583 DENR_HUMAN DENR Density-regulated protein 198 22.1 12 Cytoplasm 0 0 5 1 5 1999-07-15 O43597 SPY2_HUMAN SPRY2 Protein sprouty homolog 2 315 34.7 13 Cytoplasm; Cell projection 0 1 IgA nephropathy 3 5 1 5 2001-02-21 O43612 OREX_HUMAN HCRT Hypocretin neuropeptide precursor 131 13.4 17 Rough endoplasmic reticulum; Cytoplasmic vesicle; Synapse 0 1 Narcolepsy 1 5 1 5 2000-05-30 O75173 ATS4_HUMAN ADAMTS4 A disintegrin and metalloproteinase with thrombospondin motifs 4 837 90.2 1 3.4.24.82 Secreted 0 0 5 1 5 2000-12-01 O75208 COQ9_HUMAN COQ9 Ubiquinone biosynthesis protein COQ9, mitochondrial 318 35.5 16 Mitochondrion 0 1 Coenzyme Q10 deficiency, primary, 5 5 1 5 2006-03-21 O75223 GGCT_HUMAN GGCT Gamma-glutamylcyclotransferase 188 21 7 4.3.2.9 0 0 5 1 5 2003-08-22 O75521 ECI2_HUMAN ECI2 Enoyl-CoA delta isomerase 2 394 43.6 6 5.3.3.8 Mitochondrion 0 0 5 1 5 1999-07-15 O75525 KHDR3_HUMAN KHDRBS3 KH domain-containing, RNA-binding, signal transduction-associated protein 3 346 38.8 8 Nucleus 0 0 5 1 5 2006-04-18 O75534 CSDE1_HUMAN CSDE1 Cold shock domain-containing protein E1 798 88.9 1 Cytoplasm 0 0 5 1 5 2000-05-30 O75907 DGAT1_HUMAN DGAT1 Diacylglycerol O-acyltransferase 1 488 55.3 8 2.3.1.20 Endoplasmic reticulum membrane 9 1 Diarrhea 7, protein-losing enteropathy type 5 1 5 2001-10-18 O75971 SNPC5_HUMAN SNAPC5 snRNA-activating protein complex subunit 5 98 11.3 15 Nucleus 0 0 5 1 5 2000-05-30 O76064 RNF8_HUMAN RNF8 E3 ubiquitin-protein ligase RNF8 485 55.5 6 2.3.2.27 Nucleus; Cytoplasm; Midbody; Chromosome 0 0 5 1 5 2002-06-06 O94966 UBP19_HUMAN USP19 Ubiquitin carboxyl-terminal hydrolase 19 1318 145.7 3 3.4.19.12 Endoplasmic reticulum membrane 1 0 5 1 5 2001-06-20 O95551 TYDP2_HUMAN TDP2 Tyrosyl-DNA phosphodiesterase 2 362 40.9 6 3.1.4.- Nucleus; Cytoplasm 0 1 Spinocerebellar ataxia, autosomal recessive, 23 5 1 5 2005-06-07 O95760 IL33_HUMAN IL33 Interleukin-33 270 30.8 9 Nucleus; Chromosome; Cytoplasm; Cytoplasmic vesicle; Secreted 0 0 5 1 5 2005-07-05 P00156 CYB_HUMAN MT-CYB Cytochrome b 380 42.7 MT Mitochondrion inner membrane 8 2 Cardiomyopathy, infantile histiocytoid; Leber hereditary optic neuropathy 5 1 5 1986-07-21 P00387 NB5R3_HUMAN CYB5R3 NADH-cytochrome b5 reductase 3 301 34.2 22 1.6.2.2 Endoplasmic reticulum membrane; Mitochondrion outer membrane 0 1 Methemoglobinemia CYB5R3-related 5 1 5 1986-07-21 P00568 KAD1_HUMAN AK1 Adenylate kinase isoenzyme 1 194 21.6 9 2.7.4.3, 2.7.4.4, 2.7.4.6 Cytoplasm 0 1 Anemia, congenital, non-spherocytic hemolytic, 3 5 1 5 1986-07-21 P02489 CRYAA_HUMAN CRYAA Alpha-crystallin A chain 173 19.9 21 Cytoplasm; Nucleus 0 1 Cataract 9, multiple types 5 1 5 1986-07-21 P03901 NU4LM_HUMAN MT-ND4L NADH-ubiquinone oxidoreductase chain 4L 98 10.7 MT 7.1.1.2 Mitochondrion inner membrane 3 1 Leber hereditary optic neuropathy 5 1 5 1986-07-21 P05113 IL5_HUMAN IL5 Interleukin-5 134 15.2 5 Secreted 0 0 5 1 5 1987-08-13 P06850 CRH_HUMAN CRH Corticotropin-releasing hormone 196 21.4 8 Secreted 0 0 5 1 5 1988-01-01 P08123 CO1A2_HUMAN COL1A2 Collagen alpha-2(I) chain 1366 129.3 7 Secreted 0 7 Ehlers-Danlos syndrome, arthrochalasia type, 2; Osteogenesis imperfecta 1; Osteogenesis imperfecta 2; Ehlers-Danlos syndrome, cardiac valvular type; Osteogenesis imperfecta 3; Osteogenesis imperfecta 4; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 5 1 5 1988-08-01 P11166 GTR1_HUMAN SLC2A1 Solute carrier family 2, facilitated glucose transporter member 1 492 54.1 1 Cell membrane; Melanosome; Photoreceptor inner segment 12 5 GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized 12; Dystonia 9; Stomatin-deficient cryohydrocytosis with neurologic defects 5 1 5 1989-07-01 P15018 LIF_HUMAN LIF Leukemia inhibitory factor 202 22 22 Secreted 0 0 5 1 5 1990-04-01 P15248 IL9_HUMAN IL9 Interleukin-9 144 15.9 5 Secreted 0 0 5 1 5 1990-04-01 P17041 ZNF32_HUMAN ZNF32 Zinc finger protein 32 273 31 10 Nucleus 0 0 5 1 5 1990-08-01 P19174 PLCG1_HUMAN PLCG1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 1290 148.5 20 3.1.4.11 Cell projection 0 1 Immune dysregulation, autoimmunity, and autoinflammation 5 1 5 1990-11-01 P20393 NR1D1_HUMAN NR1D1 Nuclear receptor subfamily 1 group D member 1 614 66.8 17 Nucleus; Cytoplasm; Cell projection 0 0 5 1 5 1991-02-01 P21283 VATC1_HUMAN ATP6V1C1 V-type proton ATPase subunit C 1 382 43.9 8 Cytoplasmic vesicle 0 0 5 1 5 1991-05-01 P22004 BMP6_HUMAN BMP6 Bone morphogenetic protein 6 513 57.2 6 Secreted 0 1 Iron overload 5 1 5 1991-08-01 P28068 DMB_HUMAN HLA-DMB HLA class II histocompatibility antigen, DM beta chain 263 28.9 6 Late endosome membrane; Lysosome membrane 1 0 5 1 5 1992-08-01 P31350 RIR2_HUMAN RRM2 Ribonucleoside-diphosphate reductase subunit M2 389 44.9 2 1.17.4.1 Cytoplasm; Nucleus 0 0 5 1 5 1993-07-01 P31431 SDC4_HUMAN SDC4 Syndecan-4 198 21.6 20 Membrane; Secreted 1 0 5 1 5 1993-07-01 P32297 ACHA3_HUMAN CHRNA3 Neuronal acetylcholine receptor subunit alpha-3 505 57.5 15 Synaptic cell membrane; Cell membrane; Endoplasmic reticulum; Golgi apparatus 4 1 Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT 5 1 5 1993-10-01 P32418 NAC1_HUMAN SLC8A1 Sodium/calcium exchanger 1 973 108.5 2 Cell membrane 10 0 5 1 5 1993-10-01 P33527 MRP1_HUMAN ABCC1 ATP-binding cassette sub-family C member 1 1531 171.6 16 7.6.2.- Cell membrane; Basolateral cell membrane 17 1 Deafness, autosomal dominant, 77 5 1 5 1994-02-01 P35610 SOAT1_HUMAN SOAT1 Sterol O-acyltransferase 1 550 64.7 1 2.3.1.26 Endoplasmic reticulum membrane 9 0 5 1 5 1994-06-01 P46940 IQGA1_HUMAN IQGAP1 Ras GTPase-activating-like protein IQGAP1 1657 189.3 15 Cell membrane; Nucleus; Cytoplasm; Apical cell membrane; Basolateral cell membrane 0 0 5 1 5 1995-11-01 P46977 STT3A_HUMAN STT3A Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A 705 80.5 11 2.4.99.18 Endoplasmic reticulum; Endoplasmic reticulum membrane 13 2 Congenital disorder of glycosylation 1W, autosomal recessive; Congenital disorder of glycosylation 1W, autosomal dominant 5 1 5 1995-11-01 P49427 UB2R1_HUMAN CDC34 Ubiquitin-conjugating enzyme E2 R1 236 26.7 19 2.3.2.23 Cytoplasm; Nucleus 0 0 5 1 5 1996-02-01 P52630 STAT2_HUMAN STAT2 Signal transducer and activator of transcription 2 851 97.9 12 Cytoplasm; Nucleus 0 2 Immunodeficiency 44; Pseudo-TORCH syndrome 3 5 1 5 1996-10-01 P52848 NDST1_HUMAN NDST1 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 882 100.9 5 Golgi apparatus 1 1 Intellectual developmental disorder, autosomal recessive 46 5 1 5 1996-10-01 P55317 FOXA1_HUMAN FOXA1 Hepatocyte nuclear factor 3-alpha 472 49.1 14 Nucleus 0 0 5 1 5 1996-10-01 P60520 GBRL2_HUMAN GABARAPL2 Gamma-aminobutyric acid receptor-associated protein-like 2 117 13.7 16 Cytoplasmic vesicle; Endoplasmic reticulum membrane; Golgi apparatus 0 0 5 1 5 2004-03-01 Q03933 HSF2_HUMAN HSF2 Heat shock factor protein 2 536 60.3 6 Cytoplasm; Nucleus 0 0 5 1 5 1994-02-01 Q05195 MAD1_HUMAN MXD1 Max dimerization protein 1 221 25.3 2 Nucleus 0 0 5 1 5 1995-02-01 Q07837 SLC31_HUMAN SLC3A1 Amino acid transporter heavy chain SLC3A1 685 78.9 2 Cell membrane; Apical cell membrane 1 2 Cystinuria; Hypotonia-cystinuria syndrome 5 1 5 2001-09-26 Q08334 I10R2_HUMAN IL10RB Interleukin-10 receptor subunit beta 325 37 21 Membrane 1 1 Inflammatory bowel disease 25, autosomal recessive 5 1 5 1995-02-01 Q12802 AKP13_HUMAN AKAP13 A-kinase anchor protein 13 2813 307.6 15 Cytoplasm; Nucleus; Membrane 0 0 5 1 5 1999-07-15 Q12857 NFIA_HUMAN NFIA Nuclear factor 1 A-type 509 55.9 1 Nucleus 0 1 Brain malformations with or without urinary tract defects 5 1 5 2001-06-01 Q13094 LCP2_HUMAN LCP2 Lymphocyte cytosolic protein 2 533 60.2 5 Cytoplasm 0 1 Immunodeficiency 81 5 1 5 2000-12-01 Q13596 SNX1_HUMAN SNX1 Sorting nexin-1 522 59.1 15 Endosome membrane; Golgi apparatus; Early endosome membrane; Cell projection 0 0 5 1 5 2000-12-01 Q13614 MTMR2_HUMAN MTMR2 Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 643 73.4 11 3.1.3.95 Cytoplasm; Early endosome membrane; Cell projection; Endosome membrane 0 1 Charcot-Marie-Tooth disease, demyelinating, type 4B1 5 1 5 1997-11-01 Q13620 CUL4B_HUMAN CUL4B Cullin-4B 913 104 X Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, X-linked, syndromic, Cabezas type 5 1 5 1997-11-01 Q14165 MLEC_HUMAN MLEC Malectin 292 32.2 12 Endoplasmic reticulum membrane 1 0 5 1 5 1997-11-01 Q14247 SRC8_HUMAN CTTN Src substrate cortactin 550 61.6 11 Cytoplasm; Cell projection; Cell membrane; Cell junction; Membrane; Endoplasmic reticulum 0 0 5 1 5 1997-11-01 Q14980 NUMA1_HUMAN NUMA1 Nuclear mitotic apparatus protein 1 2115 238.3 11 Nucleus; Nucleus matrix; Chromosome; Cytoplasm; Cell membrane; Lateral cell membrane 0 0 5 1 5 2004-07-19 Q15389 ANGP1_HUMAN ANGPT1 Angiopoietin-1 498 57.5 8 Secreted 0 1 Angioedema, hereditary, 5 5 1 5 2000-12-01 Q15782 CH3L2_HUMAN CHI3L2 Chitinase-3-like protein 2 390 43.5 1 Secreted 0 0 5 1 5 2001-02-21 Q15878 CAC1E_HUMAN CACNA1E Voltage-dependent R-type calcium channel subunit alpha-1E 2313 261.7 1 Membrane 24 1 Developmental and epileptic encephalopathy 69 5 1 5 1999-07-15 Q3T906 GNPTA_HUMAN GNPTAB N-acetylglucosamine-1-phosphotransferase subunits alpha/beta 1256 143.6 12 2.7.8.17 Golgi apparatus membrane 2 2 Mucolipidosis type II; Mucolipidosis type III complementation group A 5 1 5 2006-03-07 Q59H18 TNI3K_HUMAN TNNI3K Serine/threonine-protein kinase TNNI3K 835 92.9 1 2.7.11.1 Nucleus; Cytoplasm 0 1 Cardiac conduction disease with or without cardiomyopathy 1 5 1 5 2005-11-22 Q5T6S3 PHF19_HUMAN PHF19 PHD finger protein 19 580 65.6 9 Nucleus 0 0 5 1 5 2008-02-05 Q5VTR2 BRE1A_HUMAN RNF20 E3 ubiquitin-protein ligase BRE1A 975 113.7 9 2.3.2.27 Nucleus 0 0 5 1 5 2005-12-20 Q6IQ49 SDE2_HUMAN SDE2 Splicing regulator SDE2 451 49.7 1 Nucleus; Cytoplasm 0 0 5 1 5 2007-05-01 Q6P4F2 FDX2_HUMAN FDX2 Ferredoxin-2, mitochondrial 183 19.5 19 Mitochondrion; Mitochondrion matrix 0 1 Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 5 1 5 2008-03-18 Q6TGC4 PADI6_HUMAN PADI6 Inactive protein-arginine deiminase type-6 694 77.7 1 Cytoplasm; Cytoplasmic vesicle; Nucleus 0 1 Oocyte/zygote/embryo maturation arrest 16 5 1 5 2004-12-21 Q6W2J9 BCOR_HUMAN BCOR BCL-6 corepressor 1755 192.2 X Nucleus 0 1 Microphthalmia, syndromic, 2 5 1 5 2005-01-04 Q7KZI7 MARK2_HUMAN MARK2 Serine/threonine-protein kinase MARK2 788 87.9 11 2.7.11.1, 2.7.11.26 Cell membrane; Cytoplasm; Lateral cell membrane; Cell projection 0 1 Intellectual developmental disorder, autosomal dominant 76 5 1 5 2005-04-12 Q7Z6J9 SEN54_HUMAN TSEN54 tRNA-splicing endonuclease subunit Sen54 526 58.8 17 Nucleus 0 3 Pontocerebellar hypoplasia 4; Pontocerebellar hypoplasia 2A; Pontocerebellar hypoplasia 5 5 1 5 2004-07-19 Q86UW1 OSTA_HUMAN SLC51A Organic solute transporter subunit alpha 340 37.7 3 Basolateral cell membrane 7 1 Cholestasis, progressive familial intrahepatic, 6 5 1 5 2008-04-29 Q86Z14 KLOTB_HUMAN KLB Beta-klotho 1044 119.8 4 Cell membrane 1 0 5 1 5 2005-10-11 Q8IUD6 RN135_HUMAN RNF135 E3 ubiquitin-protein ligase RNF135 432 47.9 17 2.3.2.27 Cytoplasm 0 0 5 1 5 2007-03-20 Q8IV48 ERI1_HUMAN ERI1 3'-5' exoribonuclease 1 349 40.1 8 3.1.13.1 Cytoplasm; Nucleus 0 2 Hoxha-Aliu syndrome; Spondyloepimetaphyseal dysplasia, Guo-Campeau type 5 1 5 2004-03-15 Q8NCE0 SEN2_HUMAN TSEN2 tRNA-splicing endonuclease subunit Sen2 465 53.2 3 4.6.1.16 Nucleus 0 1 Pontocerebellar hypoplasia 2B 5 1 5 2004-07-19 Q8NFH3 NUP43_HUMAN NUP43 Nucleoporin Nup43 380 42.2 6 Chromosome; Nucleus 0 0 5 1 5 2003-01-27 Q8TEA1 NSUN6_HUMAN NSUN6 tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 469 51.8 10 2.1.1.- Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 82 5 1 5 2006-12-12 Q8WYQ3 CHC10_HUMAN CHCHD10 Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial 142 14.1 22 Mitochondrion intermembrane space 0 3 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Spinal muscular atrophy, Jokela type; Myopathy, isolated mitochondrial, autosomal dominant 5 1 5 2006-10-31 Q92621 NU205_HUMAN NUP205 Nuclear pore complex protein Nup205 2012 227.9 7 Nucleus membrane; Nucleus 0 1 Nephrotic syndrome 13 5 1 5 2004-01-16 Q96BT3 CENPT_HUMAN CENPT Centromere protein T 561 60.4 16 Nucleus; Chromosome 0 1 Short stature and microcephaly with genital anomalies 5 1 5 2006-09-19 Q96LC9 BMF_HUMAN BMF Bcl-2-modifying factor 184 20.5 15 0 0 5 1 5 2004-12-21 Q96S15 WDR24_HUMAN WDR24 GATOR2 complex protein WDR24 790 88.2 16 2.3.2.27 Lysosome membrane 0 0 5 1 5 2005-11-22 Q99731 CCL19_HUMAN CCL19 C-C motif chemokine 19 98 11 9 Secreted 0 0 5 1 5 1997-11-01 Q99958 FOXC2_HUMAN FOXC2 Forkhead box protein C2 501 53.7 16 Nucleus 0 1 Lymphedema-distichiasis syndrome 5 1 5 1998-07-15 Q9BQI5 SGIP1_HUMAN SGIP1 SH3-containing GRB2-like protein 3-interacting protein 1 828 89.1 1 Membrane 0 0 5 1 5 2006-09-05 Q9BV90 SNR25_HUMAN SNRNP25 U11/U12 small nuclear ribonucleoprotein 25 kDa protein 132 15.3 16 Nucleus 0 0 5 1 5 2005-06-21 Q9BXU0 TEX12_HUMAN TEX12 Testis-expressed protein 12 123 14.1 11 Chromosome 0 0 5 1 5 2001-10-24 Q9BXW4 MLP3C_HUMAN MAP1LC3C Microtubule-associated protein 1 light chain 3 gamma 147 16.9 1 Cytoplasmic vesicle; Endomembrane system; Cytoplasm 0 0 5 1 5 2005-05-10 Q9GZX7 AICDA_HUMAN AICDA Single-stranded DNA cytosine deaminase 198 24 12 3.5.4.38 Nucleus; Cytoplasm 0 1 Immunodeficiency with hyper-IgM 2 5 1 5 2002-10-10 Q9H0Q3 FXYD6_HUMAN FXYD6 FXYD domain-containing ion transport regulator 6 95 10.5 11 Cell membrane 1 0 5 1 5 2002-01-23 Q9H410 DSN1_HUMAN DSN1 Kinetochore-associated protein DSN1 homolog 356 40.1 20 Nucleus; Chromosome 0 0 5 1 5 2003-02-01 Q9H4A3 WNK1_HUMAN WNK1 Serine/threonine-protein kinase WNK1 2382 250.8 12 2.7.11.1 Cytoplasm; Nucleus 0 2 Pseudohypoaldosteronism 2C; Neuropathy, hereditary sensory and autonomic, 2A 5 1 5 2004-02-02 Q9H6X2 ANTR1_HUMAN ANTXR1 Anthrax toxin receptor 1 564 62.8 2 Cell membrane; Cell projection 1 2 Hemangioma, capillary infantile; GAPO syndrome 5 1 5 2001-11-02 Q9H816 DCR1B_HUMAN DCLRE1B 5' exonuclease Apollo 532 60 1 3.1.-.- Chromosome; Nucleus; Cytoplasm 0 1 Dyskeratosis congenita, autosomal recessive, 8 5 1 5 2005-08-16 Q9NPG2 NGB_HUMAN NGB Neuroglobin 151 16.9 14 Cytoplasm; Mitochondrion matrix 0 0 5 1 5 2003-06-20 Q9NRP0 OSTC_HUMAN OSTC Oligosaccharyltransferase complex subunit OSTC 149 16.8 4 Endoplasmic reticulum; Membrane 3 0 5 1 5 2008-02-26 Q9NWX6 THG1_HUMAN THG1L Probable tRNA(His) guanylyltransferase 298 34.8 5 2.7.7.79 Cytoplasm; Mitochondrion outer membrane 0 1 Spinocerebellar ataxia, autosomal recessive, 28 5 1 5 2007-05-01 Q9NXC5 MIOS_HUMAN MIOS GATOR2 complex protein MIOS 875 98.6 7 Lysosome membrane 0 0 5 1 5 2008-04-08 Q9NYB0 TE2IP_HUMAN TERF2IP Telomeric repeat-binding factor 2-interacting protein 1 399 44.3 16 Nucleus; Cytoplasm; Chromosome 0 0 5 1 5 2002-06-20 Q9NZH8 IL36G_HUMAN IL36G Interleukin-36 gamma 169 18.7 2 Cytoplasm; Secreted 0 0 5 1 5 2002-11-08 Q9UBV2 SE1L1_HUMAN SEL1L Protein sel-1 homolog 1 794 88.8 14 Endoplasmic reticulum membrane 1 2 Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies; Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia 5 1 5 2001-04-27 Q9UHV7 MED13_HUMAN MED13 Mediator of RNA polymerase II transcription subunit 13 2174 239.3 17 Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 61 5 1 5 2003-02-22 Q9UII2 ATIF1_HUMAN ATP5IF1 ATPase inhibitor, mitochondrial 106 12.2 1 Mitochondrion 0 0 5 1 5 2001-01-24 Q9UIV1 CNOT7_HUMAN CNOT7 CCR4-NOT transcription complex subunit 7 285 32.7 8 3.1.13.4 Nucleus; Cytoplasm 0 0 5 1 5 2001-08-14 Q9ULM3 YETS2_HUMAN YEATS2 YEATS domain-containing protein 2 1422 150.8 3 Nucleus 0 1 Epilepsy, familial adult myoclonic, 4 5 1 5 2006-01-10 Q9ULZ1 APEL_HUMAN APLN Apelin 77 8.6 X Secreted 0 0 5 1 5 2002-01-23 Q9UNQ2 DIM1_HUMAN DIMT1 Dimethyladenosine transferase 313 35.2 5 2.1.1.183 Nucleus 0 0 5 1 5 2002-12-13 Q9UPT6 JIP3_HUMAN MAPK8IP3 C-Jun-amino-terminal kinase-interacting protein 3 1336 147.5 16 Cytoplasm; Golgi apparatus; Cytoplasmic vesicle; Cell projection 0 1 Neurodevelopmental disorder with or without variable brain abnormalities 5 1 5 2002-11-25 Q9UQR0 SCML2_HUMAN SCML2 Sex comb on midleg-like protein 2 700 77.3 X Nucleus 0 0 5 1 5 2004-05-10 Q9Y3Y4 PYGO1_HUMAN PYGO1 Pygopus homolog 1 419 45.1 15 Nucleus 0 0 5 1 5 2002-09-19 Q9Y4G2 PKHM1_HUMAN PLEKHM1 Pleckstrin homology domain-containing family M member 1 1056 117.4 17 Autolysosome membrane; Endosome membrane; Late endosome membrane; Lysosome membrane 0 2 Osteopetrosis, autosomal recessive 6; Osteopetrosis, autosomal dominant 3 5 1 5 2007-11-13 Q9Y5W5 WIF1_HUMAN WIF1 Wnt inhibitory factor 1 379 41.5 12 Secreted 0 0 5 1 5 2001-01-11 Q9Y5W9 SNX11_HUMAN SNX11 Sorting nexin-11 270 30.4 17 Cell membrane; Endosome; Cytoplasm 0 0 5 1 5 2000-12-01 A8K2U0 A2ML1_HUMAN A2ML1 Alpha-2-macroglobulin-like protein 1 1454 161.1 12 Secreted 0 1 Otitis media 5 1 5 2008-02-05 O00203 AP3B1_HUMAN AP3B1 AP-3 complex subunit beta-1 1094 121.3 5 Cytoplasmic vesicle; Golgi apparatus 0 1 Hermansky-Pudlak syndrome 2 5 1 5 2001-09-26 O14777 NDC80_HUMAN NDC80 Kinetochore protein NDC80 homolog 642 73.9 18 Nucleus; Chromosome 0 0 5 1 5 2006-09-19 O15091 MRPP3_HUMAN PRORP Mitochondrial ribonuclease P catalytic subunit 583 67.3 14 3.1.26.5 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 54 5 1 5 1998-07-15 O15144 ARPC2_HUMAN ARPC2 Actin-related protein 2/3 complex subunit 2 300 34.3 2 Cytoplasm; Cell projection; Synapse; Nucleus 0 0 5 1 5 1998-07-15 O15205 UBD_HUMAN UBD Ubiquitin D 165 18.5 6 Nucleus; Cytoplasm 0 0 5 1 5 2004-09-13 O15240 VGF_HUMAN VGF Neurosecretory protein VGF 615 67.3 7 Secreted; Cytoplasmic vesicle 0 0 5 1 5 2002-03-27 O15315 RA51B_HUMAN RAD51B DNA repair protein RAD51 homolog 2 384 42.2 14 Nucleus 0 0 5 1 5 1998-12-15 O43173 SIA8C_HUMAN ST8SIA3 Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3 380 44 18 2.4.3.- Golgi apparatus membrane 1 0 5 1 5 2002-07-11 O43707 ACTN4_HUMAN ACTN4 Alpha-actinin-4 911 104.9 19 Nucleus; Cytoplasm; Cell junction 0 1 Focal segmental glomerulosclerosis 1 5 1 5 2001-02-21 O43765 SGTA_HUMAN SGTA Small glutamine-rich tetratricopeptide repeat-containing protein alpha 313 34.1 19 Cytoplasm; Nucleus 0 0 5 1 5 2000-05-30 O60928 KCJ13_HUMAN KCNJ13 Inward rectifier potassium channel 13 360 40.5 2 Membrane; Cell membrane 2 2 Snowflake vitreoretinal degeneration; Leber congenital amaurosis 16 5 1 5 2001-04-27 O94907 DKK1_HUMAN DKK1 Dickkopf-related protein 1 266 28.7 10 Secreted 0 0 5 1 5 2001-02-21 O95340 PAPS2_HUMAN PAPSS2 Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 614 69.5 10 0 1 Brachyolmia type 4 with mild epiphyseal and metaphyseal changes 5 1 5 2000-05-30 O95983 MBD3_HUMAN MBD3 Methyl-CpG-binding domain protein 3 291 32.8 19 Nucleus; Chromosome 0 0 5 1 5 2004-07-19 P01704 LV214_HUMAN IGLV2-14 Immunoglobulin lambda variable 2-14 120 12.6 22 Secreted; Cell membrane 0 0 5 1 5 1986-07-21 P01859 IGHG2_HUMAN IGHG2 Immunoglobulin heavy constant gamma 2 395 43.8 14 Secreted 1 0 5 1 5 1986-07-21 P03886 NU1M_HUMAN MT-ND1 NADH-ubiquinone oxidoreductase chain 1 318 35.7 MT 7.1.1.2 Mitochondrion inner membrane 8 4 Leber hereditary optic neuropathy; Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome; Alzheimer disease mitochondrial; Type 2 diabetes mellitus 5 1 5 1986-07-21 P03923 NU6M_HUMAN MT-ND6 NADH-ubiquinone oxidoreductase chain 6 174 18.6 MT 7.1.1.2 Mitochondrion inner membrane 6 4 Leber hereditary optic neuropathy; Leber hereditary optic neuropathy with dystonia; Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome; Leigh syndrome 5 1 5 1986-07-21 P04083 ANXA1_HUMAN ANXA1 Annexin A1 346 38.7 9 Nucleus; Cytoplasm; Cell projection; Cell membrane; Membrane; Endosome membrane; Basolateral cell membrane; Apical cell membrane; Lateral cell membrane; Secreted; Cytoplasmic vesicle; Early endosome; Cytoplasmic vesicle membrane 0 0 5 1 5 1986-11-01 P05186 PPBT_HUMAN ALPL Alkaline phosphatase, tissue-nonspecific isozyme 524 57.3 1 3.1.3.1 Cell membrane; Extracellular vesicle membrane; Mitochondrion membrane; Mitochondrion intermembrane space 0 3 Hypophosphatasia; Hypophosphatasia, childhood; Hypophosphatasia, infantile 5 1 5 1987-08-13 P07451 CAH3_HUMAN CA3 Carbonic anhydrase 3 260 29.6 8 4.2.1.1 Cytoplasm 0 0 5 1 5 1988-04-01 P08185 CBG_HUMAN SERPINA6 Corticosteroid-binding globulin 405 45.1 14 Secreted 0 1 Corticosteroid-binding globulin deficiency 5 1 5 1988-08-01 P08240 SRPRA_HUMAN SRPRA Signal recognition particle receptor subunit alpha 638 69.8 11 Endoplasmic reticulum membrane 0 0 5 1 5 1988-08-01 P11182 ODB2_HUMAN DBT Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial 482 53.5 1 2.3.1.168 Mitochondrion matrix 0 1 Maple syrup urine disease 2 5 1 5 1989-07-01 P15382 KCNE1_HUMAN KCNE1 Potassium voltage-gated channel subfamily E member 1 129 14.7 21 Cell membrane; Apical cell membrane; Membrane raft 1 2 Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 5 1 5 1990-04-01 P16109 LYAM3_HUMAN SELP P-selectin 830 90.8 1 Cell membrane 1 0 5 1 5 1990-04-01 P18146 EGR1_HUMAN EGR1 Early growth response protein 1 543 57.5 5 Nucleus; Cytoplasm 0 0 5 1 5 1990-11-01 P20309 ACM3_HUMAN CHRM3 Muscarinic acetylcholine receptor M3 590 66.1 1 Cell membrane; Postsynaptic cell membrane; Basolateral cell membrane; Endoplasmic reticulum membrane 7 1 Prune belly syndrome 5 1 5 1991-02-01 P20333 TNR1B_HUMAN TNFRSF1B Tumor necrosis factor receptor superfamily member 1B 461 48.3 1 Cell membrane 1 0 5 1 5 1991-02-01 P20807 CAN3_HUMAN CAPN3 Calpain-3 821 94.3 15 3.4.22.54 Cytoplasm; Nucleus 0 2 Muscular dystrophy, limb-girdle, autosomal recessive 1; Muscular dystrophy, limb-girdle, autosomal dominant 4 5 1 5 1991-02-01 P21462 FPR1_HUMAN FPR1 N-formyl peptide receptor 1 350 38.4 19 Cell membrane 7 0 5 1 5 1991-05-01 P22695 QCR2_HUMAN UQCRC2 Cytochrome b-c1 complex subunit 2, mitochondrial 453 48.4 16 Mitochondrion inner membrane 0 1 Mitochondrial complex III deficiency, nuclear type 5 5 1 5 1991-08-01 P23945 FSHR_HUMAN FSHR Follicle-stimulating hormone receptor 695 78.2 2 Cell membrane 7 2 Ovarian dysgenesis 1; Ovarian hyperstimulation syndrome 5 1 5 1992-03-01 P24071 FCAR_HUMAN FCAR Immunoglobulin alpha Fc receptor 287 32.3 19 Cell membrane 1 0 5 1 5 1992-03-01 P28222 5HT1B_HUMAN HTR1B 5-hydroxytryptamine receptor 1B 390 43.6 6 Cell membrane 7 0 5 1 5 1992-12-01 P28827 PTPRM_HUMAN PTPRM Receptor-type tyrosine-protein phosphatase mu 1452 163.7 18 3.1.3.48 Cell membrane 1 0 5 1 5 1992-12-01 P29323 EPHB2_HUMAN EPHB2 Ephrin type-B receptor 2 1055 117.5 1 2.7.10.1 Cell membrane; Cell projection 1 2 Prostate cancer; Bleeding disorder, platelet-type, 22 5 1 5 1992-12-01 P30411 BKRB2_HUMAN BDKRB2 B2 bradykinin receptor 391 44.5 14 Cell membrane 7 0 5 1 5 1993-04-01 P30531 SC6A1_HUMAN SLC6A1 Sodium- and chloride-dependent GABA transporter 1 599 67.1 3 Cell membrane; Presynapse 12 1 Myoclonic-atonic epilepsy 5 1 5 1993-04-01 P31930 QCR1_HUMAN UQCRC1 Cytochrome b-c1 complex subunit 1, mitochondrial 480 52.6 3 Mitochondrion inner membrane 0 1 Parkinsonism with polyneuropathy 5 1 5 1993-07-01 P40855 PEX19_HUMAN PEX19 Peroxisomal biogenesis factor 19 299 32.8 1 Cytoplasm; Peroxisome membrane 0 2 Peroxisome biogenesis disorder complementation group 14; Peroxisome biogenesis disorder 12A 5 1 5 1995-02-01 P42771 CDN2A_HUMAN CDKN2A Cyclin-dependent kinase inhibitor 2A 156 16.5 9 Cytoplasm; Nucleus 0 3 Melanoma, cutaneous malignant 2; Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome; Melanoma-astrocytoma syndrome 5 1 5 1995-11-01 P48169 GBRA4_HUMAN GABRA4 Gamma-aminobutyric acid receptor subunit alpha-4 554 61.6 4 Cell membrane; Postsynaptic cell membrane 4 0 5 1 5 1996-02-01 P49146 NPY2R_HUMAN NPY2R Neuropeptide Y receptor type 2 381 42.7 4 Cell membrane 7 0 5 1 5 1996-02-01 P53611 PGTB2_HUMAN RABGGTB Geranylgeranyl transferase type-2 subunit beta 331 36.9 1 2.5.1.60 0 0 5 1 5 1996-10-01 P56545 CTBP2_HUMAN CTBP2 C-terminal-binding protein 2 445 48.9 10 Nucleus; Synapse 0 0 5 1 5 1998-07-15 Q01196 RUNX1_HUMAN RUNX1 Runt-related transcription factor 1 453 48.7 21 Nucleus 0 1 Familial platelet disorder with associated myeloid malignancy 5 1 5 1993-04-01 Q01973 ROR1_HUMAN ROR1 Inactive tyrosine-protein kinase transmembrane receptor ROR1 937 104.3 1 Cell membrane; Cell projection 1 1 Deafness, autosomal recessive, 108 5 1 5 2001-04-27 Q04837 SSBP_HUMAN SSBP1 Single-stranded DNA-binding protein, mitochondrial 148 17.3 7 Mitochondrion; Mitochondrion matrix 0 1 Optic atrophy 13 with retinal and foveal abnormalities 5 1 5 1993-10-01 Q13637 RAB32_HUMAN RAB32 Ras-related protein Rab-32 225 25 6 3.6.5.2 Mitochondrion; Mitochondrion outer membrane; Cytoplasmic vesicle; Melanosome; Melanosome membrane 0 1 Parkinson disease 26, autosomal dominant 5 1 5 1997-11-01 Q14332 FZD2_HUMAN FZD2 Frizzled-2 565 63.6 17 Membrane; Cell membrane 7 1 Omodysplasia 2 5 1 5 2001-12-05 Q15743 GPR68_HUMAN GPR68 G protein-coupled receptor 68 365 41.1 14 Cell membrane 7 1 Amelogenesis imperfecta, hypomaturation type, 2A6 5 1 5 1998-07-15 Q16560 U1SBP_HUMAN SNRNP35 U11/U12 small nuclear ribonucleoprotein 35 kDa protein 246 29.5 12 Nucleus 0 0 5 1 5 2007-10-23 Q16819 MEP1A_HUMAN MEP1A Meprin A subunit alpha 746 84.4 6 3.4.24.18 Membrane 1 0 5 1 5 1997-11-01 Q32M88 PGGHG_HUMAN PGGHG Protein-glucosylgalactosylhydroxylysine glucosidase 737 80.7 11 3.2.1.107 0 0 5 1 5 2008-04-08 Q6IMN6 CAPR2_HUMAN CAPRIN2 Caprin-2 1127 125.9 12 Cell membrane 0 0 5 1 5 2007-09-11 Q6NXG1 ESRP1_HUMAN ESRP1 Epithelial splicing regulatory protein 1 681 75.6 8 Nucleus 0 1 Deafness, autosomal recessive, 109 5 1 5 2007-01-23 Q6PJF5 RHDF2_HUMAN RHBDF2 Inactive rhomboid protein 2 856 96.7 17 Endoplasmic reticulum membrane; Cell membrane 7 1 Tylosis with esophageal cancer 5 1 5 2008-07-01 Q6PJI9 WDR59_HUMAN WDR59 GATOR2 complex protein WDR59 974 109.8 16 Lysosome membrane 0 0 5 1 5 2007-03-20 Q719H9 KCTD1_HUMAN KCTD1 BTB/POZ domain-containing protein KCTD1 257 29.4 18 Nucleus 0 2 Scalp-ear-nipple syndrome; Dental radicular dysplasia 5 1 5 2006-07-25 Q7Z6E9 RBBP6_HUMAN RBBP6 E3 ubiquitin-protein ligase RBBP6 1792 201.6 16 2.3.2.27 Nucleus; Chromosome; Cytoplasm 0 0 5 1 5 2006-05-16 Q86TV6 TTC7B_HUMAN TTC7B Tetratricopeptide repeat protein 7B 843 94.2 14 Cytoplasm; Cell membrane 0 0 5 1 5 2003-08-22 Q86VS8 HOOK3_HUMAN HOOK3 Protein Hook homolog 3 718 83.1 8 Cytoplasm; Golgi apparatus 0 0 5 1 5 2004-02-02 Q86Y01 DTX1_HUMAN DTX1 E3 ubiquitin-protein ligase DTX1 620 67.4 12 2.3.2.27 Cytoplasm; Nucleus; Endosome 0 0 5 1 5 2003-09-26 Q8IVS2 FABD_HUMAN MCAT Malonyl-CoA-acyl carrier protein transacylase, mitochondrial 390 43 22 2.3.1.39 Mitochondrion 0 1 Optic atrophy 15 5 1 5 2004-06-07 Q92574 TSC1_HUMAN TSC1 Hamartin 1164 129.8 9 Lysosome membrane; Cytoplasm 0 3 Tuberous sclerosis 1; Lymphangioleiomyomatosis; Focal cortical dysplasia 2 5 1 5 2000-12-01 Q969D9 TSLP_HUMAN TSLP Thymic stromal lymphopoietin 159 18.1 5 Secreted 0 0 5 1 5 2007-09-11 Q96A08 H2B1A_HUMAN H2BC1 Histone H2B type 1-A 127 14.2 6 Nucleus; Chromosome 0 0 5 1 5 2004-08-16 Q96C10 DHX58_HUMAN DHX58 ATP-dependent RNA helicase DHX58 678 76.6 17 3.6.4.13 Cytoplasm 0 0 5 1 5 2004-07-19 Q96EK6 GNA1_HUMAN GNPNAT1 Glucosamine 6-phosphate N-acetyltransferase 184 20.7 14 2.3.1.4 Golgi apparatus membrane; Endosome membrane 0 1 Rhizomelic dysplasia, Ain-Naz type 5 1 5 2004-05-10 Q96JB5 CK5P3_HUMAN CDK5RAP3 CDK5 regulatory subunit-associated protein 3 506 56.9 17 Endoplasmic reticulum membrane; Cytoplasm; Nucleus 0 0 5 1 5 2003-06-16 Q96M98 PACRG_HUMAN PACRG Parkin coregulated gene protein 296 33.3 6 Cytoplasm 0 0 5 1 5 2004-04-13 Q99527 GPER1_HUMAN GPER1 G protein-coupled estrogen receptor 1 375 42.2 7 Nucleus; Cytoplasm; Cell membrane; Basolateral cell membrane; Cytoplasmic vesicle membrane; Early endosome; Recycling endosome; Golgi apparatus membrane; Golgi apparatus; Endoplasmic reticulum membrane; Cell projection; Postsynaptic density; Mitochondrion membrane 7 0 5 1 5 1998-07-15 Q99720 SGMR1_HUMAN SIGMAR1 Sigma non-opioid intracellular receptor 1 223 25.1 9 Nucleus inner membrane; Nucleus outer membrane; Nucleus envelope; Cytoplasmic vesicle; Endoplasmic reticulum membrane; Membrane; Lipid droplet; Cell junction; Cell membrane; Cell projection; Postsynaptic density membrane 1 2 Amyotrophic lateral sclerosis 16, juvenile; Neuronopathy, distal hereditary motor, autosomal recessive 2 5 1 5 2006-12-12 Q9BQ65 USB1_HUMAN USB1 U6 snRNA phosphodiesterase 1 265 30.3 16 Nucleus 0 1 Poikiloderma with neutropenia 5 1 5 2007-02-06 Q9BYI3 HYCCI_HUMAN HYCC1 Hyccin 521 57.6 7 Cytoplasm; Cell membrane 0 1 Leukodystrophy, hypomyelinating, 5 5 1 5 2005-10-11 Q9H147 TDIF1_HUMAN DNTTIP1 Deoxynucleotidyltransferase terminal-interacting protein 1 329 37 20 Nucleus 0 0 5 1 5 2002-12-06 Q9H171 ZBP1_HUMAN ZBP1 Z-DNA-binding protein 1 429 46.3 20 Cytoplasm; Nucleus 0 0 5 1 5 2002-11-25 Q9H4M9 EHD1_HUMAN EHD1 EH domain-containing protein 1 534 60.6 11 Recycling endosome membrane; Early endosome membrane; Cell membrane; Cell projection 0 0 5 1 5 2001-09-26 Q9H6S1 AZI2_HUMAN AZI2 5-azacytidine-induced protein 2 392 44.9 3 Cytoplasm 0 0 5 1 5 2007-03-20 Q9HBE1 PATZ1_HUMAN PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 687 74.1 22 Nucleus 0 0 5 1 5 2003-11-07 Q9NQV7 PRDM9_HUMAN PRDM9 Histone-lysine N-methyltransferase PRDM9 894 103.4 5 Nucleus; Chromosome 0 0 5 1 5 2001-11-16 Q9NRX4 PHP14_HUMAN PHPT1 14 kDa phosphohistidine phosphatase 125 13.8 9 3.9.1.3 Cytoplasm 0 0 5 1 5 2002-11-08 Q9NSY1 BMP2K_HUMAN BMP2K BMP-2-inducible protein kinase 1161 129.2 4 2.7.11.1 Nucleus 0 0 5 1 5 2003-08-22 Q9NWU1 OXSM_HUMAN OXSM 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial 459 48.8 3 2.3.1.41 Mitochondrion 0 0 5 1 5 2006-04-18 Q9UDW1 QCR9_HUMAN UQCR10 Cytochrome b-c1 complex subunit 9 63 7.3 22 Mitochondrion inner membrane 1 0 5 1 5 2000-12-01 Q9UJV9 DDX41_HUMAN DDX41 Probable ATP-dependent RNA helicase DDX41 622 69.8 5 3.6.4.13 Nucleus; Cytoplasm 0 1 Myeloproliferative/lymphoproliferative neoplasms, familial 5 1 5 2000-12-01 Q9ULH1 ASAP1_HUMAN ASAP1 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 1129 125.5 8 Cytoplasm; Membrane; Golgi apparatus 0 0 5 1 5 2003-09-26 Q9UPI3 FLVC2_HUMAN FLVCR2 Choline/ethanolamine transporter FLVCR2 526 57.2 14 Cell membrane; Mitochondrion membrane; Endoplasmic reticulum membrane 12 1 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome 5 1 5 2004-04-13 Q9Y2T2 AP3M1_HUMAN AP3M1 AP-3 complex subunit mu-1 418 46.9 10 Golgi apparatus; Cytoplasmic vesicle membrane 0 0 5 1 5 2001-02-21 Q9Y316 MEMO1_HUMAN MEMO1 Protein MEMO1 297 33.7 2 0 0 5 1 5 2000-05-30 Q9Y698 CCG2_HUMAN CACNG2 Voltage-dependent calcium channel gamma-2 subunit 323 36 22 Membrane; Synapse 4 1 Intellectual developmental disorder, autosomal dominant 10 5 1 5 2000-05-30 Q9Y6A5 TACC3_HUMAN TACC3 Transforming acidic coiled-coil-containing protein 3 838 90.4 4 Cytoplasm 0 0 5 1 5 2001-04-27 Q8N4Q0 PTGR3_HUMAN PTGR3 Prostaglandin reductase 3 377 40.1 18 1.3.1.48 Peroxisome 0 0 5 1 4 2006-02-21 Q15404 RSU1_HUMAN RSU1 Ras suppressor protein 1 277 31.5 10 0 0 5 1 4 1997-11-01 Q8N8D1 PDCD7_HUMAN PDCD7 Programmed cell death protein 7 485 54.7 15 Nucleus 0 0 5 1 4 2003-10-31 Q9NTZ6 RBM12_HUMAN RBM12 RNA-binding protein 12 932 97.4 20 Nucleus 0 1 Schizophrenia 19 5 1 4 2003-04-23 P43116 PE2R2_HUMAN PTGER2 Prostaglandin E2 receptor EP2 subtype 358 39.8 14 Cell membrane 7 0 5 1 4 1995-11-01 Q9NSI2 SLX9_HUMAN SLX9 Ribosome biogenesis protein SLX9 homolog 230 25.5 21 Nucleus 0 0 5 1 4 2001-12-13 P08048 ZFY_HUMAN ZFY Zinc finger Y-chromosomal protein 801 90.5 Y Nucleus 0 0 5 1 4 1988-08-01 Q6DWJ6 GP139_HUMAN GPR139 Probable G protein-coupled receptor 139 353 40.7 16 Cell membrane 7 0 5 1 4 2006-01-10 Q7Z6K3 PTAR1_HUMAN PTAR1 Protein prenyltransferase alpha subunit repeat-containing protein 1 402 46.4 9 0 0 5 1 4 2008-02-05 Q8N1G4 LRC47_HUMAN LRRC47 Leucine-rich repeat-containing protein 47 583 63.5 1 0 0 5 1 4 2006-02-21 Q9Y3E1 HDGR3_HUMAN HDGFL3 Hepatoma-derived growth factor-related protein 3 203 22.6 15 Nucleus 0 0 5 1 4 2005-06-21 Q92576 PHF3_HUMAN PHF3 PHD finger protein 3 2039 229.5 6 0 0 5 1 3 2003-08-15 A0A0B4J268 TVA4_HUMAN TRAV4 T cell receptor alpha variable 4 109 12.2 14 Cell membrane 0 0 5 1 3 2018-02-28 A0A0B4J272 TVA24_HUMAN TRAV24 T cell receptor alpha variable 24 114 12.9 14 Cell membrane 0 0 5 1 3 2018-02-28 A0A0B4J2H0 HV69D_HUMAN IGHV1-69D Immunoglobulin heavy variable 1-69D 117 12.7 14 Secreted; Cell membrane 0 0 5 1 3 2017-04-12 Q8N8M0 NAT16_HUMAN NAT16 Probable N-acetyltransferase 16 369 40.5 7 2.3.1.- 0 0 5 1 3 2007-11-13 Q99679 GPR21_HUMAN GPR21 Probable G protein-coupled receptor 21 349 39.5 9 Cell membrane 7 0 5 1 3 1997-11-01 O00506 STK25_HUMAN STK25 Serine/threonine-protein kinase 25 426 48.1 2 2.7.11.1 Cytoplasm; Golgi apparatus 0 0 4 1 5 2000-12-01 O14958 CASQ2_HUMAN CASQ2 Calsequestrin-2 399 46.4 1 Sarcoplasmic reticulum lumen 0 1 Ventricular tachycardia, catecholaminergic polymorphic, 2 4 1 5 1999-07-15 O14960 LECT2_HUMAN LECT2 Leukocyte cell-derived chemotaxin-2 151 16.4 5 Cytoplasm; Secreted 0 0 4 1 5 1999-07-15 O43603 GALR2_HUMAN GALR2 Galanin receptor type 2 387 41.7 17 Cell membrane 7 0 4 1 5 1999-07-15 O43866 CD5L_HUMAN CD5L CD5 antigen-like 347 38.1 1 Secreted; Cytoplasm 0 0 4 1 5 2002-04-16 O60449 LY75_HUMAN LY75 Lymphocyte antigen 75 1722 198.3 2 Membrane 1 0 4 1 5 2003-09-19 O75190 DNJB6_HUMAN DNAJB6 DnaJ homolog subfamily B member 6 326 36.1 7 Cytoplasm; Nucleus 0 1 Muscular dystrophy, limb-girdle, autosomal dominant 1 4 1 5 2000-05-30 O75191 XYLB_HUMAN XYLB Xylulose kinase 536 58.4 3 2.7.1.17 0 0 4 1 5 2006-04-04 O75365 TP4A3_HUMAN PTP4A3 Protein tyrosine phosphatase type IVA 3 173 19.5 8 3.1.3.48 Cell membrane; Early endosome 0 0 4 1 5 2005-07-05 O75486 SUPT3_HUMAN SUPT3H Transcription initiation protein SPT3 homolog 317 35.8 6 Nucleus 0 0 4 1 5 2002-05-15 O75807 PR15A_HUMAN PPP1R15A Protein phosphatase 1 regulatory subunit 15A 674 73.5 19 Endoplasmic reticulum membrane; Mitochondrion outer membrane 0 0 4 1 5 2008-02-26 O95155 UBE4B_HUMAN UBE4B Ubiquitin conjugation factor E4 B 1302 146.2 1 2.3.2.27 Early endosome; Cytoplasm; Nucleus 0 0 4 1 5 2002-11-01 O95750 FGF19_HUMAN FGF19 Fibroblast growth factor 19 216 24 11 Secreted 0 0 4 1 5 2000-12-01 O95793 STAU1_HUMAN STAU1 Double-stranded RNA-binding protein Staufen homolog 1 577 63.2 20 Cytoplasm; Rough endoplasmic reticulum 0 0 4 1 5 2000-12-01 O95835 LATS1_HUMAN LATS1 Serine/threonine-protein kinase LATS1 1130 126.9 6 2.7.11.1 Cytoplasm; Midbody 0 0 4 1 5 2004-09-27 P00480 OTC_HUMAN OTC Ornithine transcarbamylase, mitochondrial 354 39.9 X 2.1.3.3 Mitochondrion matrix 0 1 Ornithine carbamoyltransferase deficiency 4 1 5 1986-07-21 P01877 IGHA2_HUMAN IGHA2 Immunoglobulin heavy constant alpha 2 391 42.3 14 Cell membrane 1 0 4 1 5 1986-07-21 P05452 TETN_HUMAN CLEC3B Tetranectin 202 22.5 3 Secreted 0 1 Macular dystrophy, retinal, 4 4 1 5 1988-11-01 P08572 CO4A2_HUMAN COL4A2 Collagen alpha-2(IV) chain 1712 167.6 13 Secreted 0 3 Brain small vessel disease 2A, autosomal dominant; Brain small vessel disease 2B, autosomal recessive; Intracerebral hemorrhage 4 1 5 1988-08-01 P08700 IL3_HUMAN IL3 Interleukin-3 152 17.2 5 Secreted 0 0 4 1 5 1988-01-01 P09525 ANXA4_HUMAN ANXA4 Annexin A4 319 35.9 2 Zymogen granule membrane 0 0 4 1 5 1989-07-01 P0C5Z0 H2AB2_HUMAN H2AB2 Histone H2A-Bbd type 2/3 115 12.7 X Nucleus; Chromosome 0 0 4 1 5 2007-12-04 P10176 COX8A_HUMAN COX8A Cytochrome c oxidase subunit 8A, mitochondrial 69 7.6 11 Mitochondrion inner membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 15 4 1 5 1989-07-01 P12814 ACTN1_HUMAN ACTN1 Alpha-actinin-1 892 103.1 14 Cytoplasm; Cell membrane; Cell junction; Cell projection 0 1 Bleeding disorder, platelet-type, 15 4 1 5 1989-10-01 P13489 RINI_HUMAN RNH1 Ribonuclease inhibitor 461 50 11 Cytoplasm; Nucleus 0 1 Encephalitis, acute, infection-induced, 12 4 1 5 1990-01-01 P13716 HEM2_HUMAN ALAD Delta-aminolevulinic acid dehydratase 330 36.3 9 4.2.1.24 Cytoplasm 0 1 Acute hepatic porphyria 4 1 5 1990-01-01 P13866 SC5A1_HUMAN SLC5A1 Sodium/glucose cotransporter 1 664 73.5 22 Apical cell membrane 14 1 Glucose/galactose malabsorption 4 1 5 1990-01-01 P15391 CD19_HUMAN CD19 B-lymphocyte antigen CD19 556 61.1 16 Cell membrane; Membrane raft 1 1 Immunodeficiency, common variable, 3 4 1 5 1990-04-01 P16112 PGCA_HUMAN ACAN Aggrecan core protein 2530 261.3 15 Secreted 0 3 Spondyloepiphyseal dysplasia type Kimberley; Spondyloepimetaphyseal dysplasia, aggrecan type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 4 1 5 1990-04-01 P17405 ASM_HUMAN SMPD1 Sphingomyelin phosphodiesterase 631 69.9 11 3.1.4.12, 3.1.4.3 Lysosome; Lipid droplet; Secreted 0 2 Niemann-Pick disease A; Niemann-Pick disease B 4 1 5 1990-08-01 P18075 BMP7_HUMAN BMP7 Bone morphogenetic protein 7 431 49.3 20 Secreted 0 0 4 1 5 1990-11-01 P19113 DCHS_HUMAN HDC Histidine decarboxylase 662 74.1 15 4.1.1.22 0 0 4 1 5 1990-11-01 P19484 TFEB_HUMAN TFEB Transcription factor EB 476 52.9 6 Nucleus; Cytoplasm; Lysosome membrane 0 0 4 1 5 1991-02-01 P19875 CXCL2_HUMAN CXCL2 C-X-C motif chemokine 2 107 11.4 4 Secreted 0 0 4 1 5 1991-02-01 P20292 AL5AP_HUMAN ALOX5AP Arachidonate 5-lipoxygenase-activating protein 161 18.2 13 Nucleus membrane; Endoplasmic reticulum membrane 4 1 Ischemic stroke 4 1 5 1991-02-01 P20338 RAB4A_HUMAN RAB4A Ras-related protein Rab-4A 218 24.4 1 3.6.5.2 Membrane; Cytoplasm; Early endosome membrane; Recycling endosome membrane 0 0 4 1 5 1991-02-01 P21439 MDR3_HUMAN ABCB4 Phosphatidylcholine translocator ABCB4 1286 141.5 7 7.6.2.1 Cell membrane; Apical cell membrane; Membrane raft; Cytoplasm; Cytoplasmic vesicle 12 3 Cholestasis, progressive familial intrahepatic, 3; Cholestasis of pregnancy, intrahepatic 3; Gallbladder disease 1 4 1 5 1991-05-01 P21709 EPHA1_HUMAN EPHA1 Ephrin type-A receptor 1 976 108.1 7 2.7.10.1 Cell membrane 1 0 4 1 5 1991-05-01 P28562 DUS1_HUMAN DUSP1 Dual specificity protein phosphatase 1 367 39.3 5 3.1.3.16, 3.1.3.48 Nucleus 0 0 4 1 5 1992-12-01 P29275 AA2BR_HUMAN ADORA2B Adenosine receptor A2b 332 36.3 17 Cell membrane 7 0 4 1 5 1992-12-01 P32754 HPPD_HUMAN HPD 4-hydroxyphenylpyruvate dioxygenase 393 45 12 1.13.11.27 Cytoplasm; Endoplasmic reticulum membrane; Golgi apparatus membrane; Nucleus 0 2 Tyrosinemia 3; Hawkinsinuria 4 1 5 1993-10-01 P33763 S10A5_HUMAN S100A5 Protein S100-A5 92 10.7 1 0 0 4 1 5 1994-02-01 P35914 HMGCL_HUMAN HMGCL Hydroxymethylglutaryl-CoA lyase, mitochondrial 325 34.4 1 4.1.3.4 Mitochondrion matrix; Peroxisome 0 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency 4 1 5 1994-06-01 P38935 SMBP2_HUMAN IGHMBP2 DNA-binding protein SMUBP-2 993 109.1 11 5.6.2.3, 5.6.2.5 Nucleus; Cytoplasm; Cell projection 0 2 Neuronopathy, distal hereditary motor, autosomal recessive 1; Charcot-Marie-Tooth disease, axonal, type 2S 4 1 5 1995-02-01 P40616 ARL1_HUMAN ARL1 ADP-ribosylation factor-like protein 1 181 20.4 12 Golgi apparatus membrane; Golgi apparatus; Membrane 0 0 4 1 5 1995-02-01 P41146 OPRX_HUMAN OPRL1 Nociceptin receptor 370 40.7 20 Cell membrane; Cytoplasmic vesicle 7 0 4 1 5 1995-02-01 P43487 RANG_HUMAN RANBP1 Ran-specific GTPase-activating protein 201 23.3 22 0 0 4 1 5 1995-11-01 P46098 5HT3A_HUMAN HTR3A 5-hydroxytryptamine receptor 3A 478 55.3 11 Postsynaptic cell membrane; Cell membrane 4 0 4 1 5 1995-11-01 P49767 VEGFC_HUMAN VEGFC Vascular endothelial growth factor C 419 46.9 4 Secreted 0 1 Lymphatic malformation 4 4 1 5 1996-10-01 P52789 HXK2_HUMAN HK2 Hexokinase-2 917 102.4 2 2.7.1.1 Mitochondrion outer membrane; Cytoplasm 0 0 4 1 5 1996-10-01 P52952 NKX25_HUMAN NKX2-5 Homeobox protein Nkx-2.5 324 34.9 5 Nucleus 0 6 Atrial septal defect 7, with or without atrioventricular conduction defects; Tetralogy of Fallot; Conotruncal heart malformations; Hypothyroidism, congenital, non-goitrous, 5; Ventricular septal defect 3; Hypoplastic left heart syndrome 2 4 1 5 1996-10-01 P54710 ATNG_HUMAN FXYD2 Sodium/potassium-transporting ATPase subunit gamma 66 7.3 11 Membrane 1 1 Hypomagnesemia 2 4 1 5 1996-10-01 P55259 GP2_HUMAN GP2 Pancreatic secretory granule membrane major glycoprotein GP2 537 59.5 16 Zymogen granule membrane; Secreted; Cell membrane; Apical cell membrane; Membrane raft; Endosome 0 0 4 1 5 1996-10-01 Q01151 CD83_HUMAN CD83 CD83 antigen 205 23 6 Membrane 1 0 4 1 5 1993-04-01 Q12769 NU160_HUMAN NUP160 Nuclear pore complex protein Nup160 1436 162.1 11 Nucleus 0 1 Nephrotic syndrome 19 4 1 5 2001-02-21 Q12967 GNDS_HUMAN RALGDS Ral guanine nucleotide dissociation stimulator 914 100.6 9 Cytoplasm; Nucleus 0 0 4 1 5 1998-07-15 Q13255 GRM1_HUMAN GRM1 Metabotropic glutamate receptor 1 1194 132.4 6 Cell membrane; Postsynaptic cell membrane; Cell projection 7 2 Spinocerebellar ataxia, autosomal recessive, 13; Spinocerebellar ataxia 44 4 1 5 1997-11-01 Q13427 PPIG_HUMAN PPIG Peptidyl-prolyl cis-trans isomerase G 754 88.6 2 5.2.1.8 Nucleus matrix; Nucleus speckle 0 0 4 1 5 2004-03-15 Q14849 STAR3_HUMAN STARD3 StAR-related lipid transfer protein 3 445 50.5 17 Late endosome membrane 4 0 4 1 5 2000-05-30 Q15125 EBP_HUMAN EBP 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase 230 26.4 X 5.3.3.5 Endoplasmic reticulum membrane; Nucleus envelope; Cytoplasmic vesicle 4 2 Chondrodysplasia punctata 2, X-linked dominant; MEND syndrome 4 1 5 2001-10-18 Q15181 IPYR_HUMAN PPA1 Inorganic pyrophosphatase 289 32.7 10 3.6.1.1 Cytoplasm 0 0 4 1 5 1997-11-01 Q16584 M3K11_HUMAN MAP3K11 Mitogen-activated protein kinase kinase kinase 11 847 92.7 11 2.7.11.25 Cytoplasm 0 0 4 1 5 2005-07-19 Q16659 MK06_HUMAN MAPK6 Mitogen-activated protein kinase 6 721 82.7 15 2.7.11.24 Cytoplasm; Nucleus 0 0 4 1 5 1997-11-01 Q30154 DRB5_HUMAN HLA-DRB5 HLA class II histocompatibility antigen, DR beta 5 chain 266 30.1 6 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endosome membrane; Lysosome membrane; Late endosome membrane 1 0 4 1 5 2008-03-18 Q5JRA6 TGO1_HUMAN MIA3 Transport and Golgi organization protein 1 homolog 1907 213.7 1 Endoplasmic reticulum membrane 1 1 Odontochondrodysplasia 2 with hearing loss and diabetes 4 1 5 2007-05-29 Q69YH5 CDCA2_HUMAN CDCA2 Cell division cycle-associated protein 2 1023 112.7 8 Nucleus 0 0 4 1 5 2007-05-15 Q6P2P2 ANM9_HUMAN PRMT9 Protein arginine N-methyltransferase 9 845 94.5 4 Cytoplasm 0 0 4 1 5 2008-03-18 Q6P4R8 NFRKB_HUMAN NFRKB Nuclear factor related to kappa-B-binding protein 1299 139 11 Nucleus 0 0 4 1 5 2006-03-21 Q7L5D6 GET4_HUMAN GET4 Golgi to ER traffic protein 4 homolog 327 36.5 7 Cytoplasm 0 1 Congenital disorder of glycosylation 2Y 4 1 5 2006-03-21 Q7RTN6 STRAA_HUMAN STRADA STE20-related kinase adapter protein alpha 431 48.4 17 Nucleus; Cytoplasm 0 0 4 1 5 2006-11-28 Q7Z6J0 SH3R1_HUMAN SH3RF1 E3 ubiquitin-protein ligase SH3RF1 888 93.1 4 2.3.2.27 Cytoplasm; Cell projection; Golgi apparatus 0 0 4 1 5 2008-05-20 Q86W24 NAL14_HUMAN NLRP14 NACHT, LRR and PYD domains-containing protein 14 1093 124.7 11 Cytoplasm 0 0 4 1 5 2003-11-14 Q86WA6 BPHL_HUMAN BPHL Serine hydrolase BPHL 291 32.5 6 3.1.-.- Mitochondrion 0 0 4 1 5 2003-12-15 Q86YT5 S13A5_HUMAN SLC13A5 Na(+)/citrate cotransporter 568 63.1 17 Cell membrane 11 1 Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta 4 1 5 2006-11-28 Q8IXJ9 ASXL1_HUMAN ASXL1 Polycomb group protein ASXL1 1541 165.4 20 Nucleus 0 2 Bohring-Opitz syndrome; Myelodysplastic syndrome 4 1 5 2003-04-23 Q8N668 COMD1_HUMAN COMMD1 COMM domain-containing protein 1 190 21.2 2 Nucleus; Cytoplasm; Endosome membrane; Cytoplasmic vesicle; Early endosome; Recycling endosome 0 0 4 1 5 2004-08-16 Q8NCM8 DYHC2_HUMAN DYNC2H1 Cytoplasmic dynein 2 heavy chain 1 4307 492.6 11 Cytoplasm; Cell membrane 0 1 Short-rib thoracic dysplasia 3 with or without polydactyly 4 1 5 2008-02-26 Q8NEM7 SP20H_HUMAN SUPT20H Transcription factor SPT20 homolog 779 85.8 13 Nucleus 0 0 4 1 5 2005-07-19 Q8NEV9 IL27A_HUMAN IL27 Interleukin-27 subunit alpha 243 27.5 16 Secreted 0 0 4 1 5 2008-02-26 Q8NEZ3 WDR19_HUMAN WDR19 WD repeat-containing protein 19 1342 151.6 4 Cell projection; Cytoplasm 0 5 Cranioectodermal dysplasia 4; Short-rib thoracic dysplasia 5 with or without polydactyly; Nephronophthisis 13; Senior-Loken syndrome 8; Spermatogenic failure 72 4 1 5 2006-05-02 Q8WTR2 DUS19_HUMAN DUSP19 Dual specificity protein phosphatase 19 217 24.2 2 3.1.3.16, 3.1.3.48 0 0 4 1 5 2003-02-28 Q8WXI7 MUC16_HUMAN MUC16 Mucin-16 14507 1519.2 19 Cell membrane; Secreted 1 0 4 1 5 2006-10-31 Q93088 BHMT1_HUMAN BHMT Betaine--homocysteine S-methyltransferase 1 406 45 5 2.1.1.5 Cytoplasm; Nucleus 0 0 4 1 5 1997-11-01 Q969N2 PIGT_HUMAN PIGT GPI-anchor transamidase component PIGT 578 65.7 20 Endoplasmic reticulum membrane 1 2 Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2 4 1 5 2004-03-01 Q96B36 AKTS1_HUMAN AKT1S1 Proline-rich AKT1 substrate 1 256 27.4 19 Cytoplasm 0 0 4 1 5 2006-10-17 Q96FJ2 DYL2_HUMAN DYNLL2 Dynein light chain 2, cytoplasmic 89 10.4 17 Cytoplasm 0 0 4 1 5 2004-12-21 Q96LB9 PGRP3_HUMAN PGLYRP3 Peptidoglycan recognition protein 3 341 37.6 1 Secreted 0 0 4 1 5 2003-11-28 Q96LT4 SAMD8_HUMAN SAMD8 Sphingomyelin synthase-related protein 1 415 48.3 10 2.7.8.- Endoplasmic reticulum membrane 6 0 4 1 5 2004-03-01 Q96RL1 UIMC1_HUMAN UIMC1 BRCA1-A complex subunit RAP80 719 79.7 5 Nucleus 0 0 4 1 5 2005-03-01 Q99593 TBX5_HUMAN TBX5 T-box transcription factor TBX5 518 57.7 12 Nucleus; Cytoplasm 0 1 Holt-Oram syndrome 4 1 5 1997-11-01 Q99735 MGST2_HUMAN MGST2 Microsomal glutathione S-transferase 2 147 16.6 4 2.5.1.18 Endoplasmic reticulum membrane; Microsome membrane 3 0 4 1 5 1997-11-01 Q99988 GDF15_HUMAN GDF15 Growth/differentiation factor 15 308 34.1 19 Secreted 0 1 Hyperemesis gravidarum 4 1 5 2001-02-21 Q9BV79 MECR_HUMAN MECR Enoyl-[acyl-carrier-protein] reductase, mitochondrial 373 40.5 1 1.3.1.104 Mitochondrion 0 2 Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; Optic atrophy 16 4 1 5 2005-04-26 Q9BW66 CINP_HUMAN CINP Cyclin-dependent kinase 2-interacting protein 212 24.3 14 Nucleus 0 0 4 1 5 2008-03-18 Q9BZL6 KPCD2_HUMAN PRKD2 Serine/threonine-protein kinase D2 878 96.7 19 2.7.11.13 Cytoplasm; Cell membrane; Nucleus; Golgi apparatus 0 0 4 1 5 2002-03-27 Q9H0A8 COMD4_HUMAN COMMD4 COMM domain-containing protein 4 199 21.8 15 Cytoplasm; Nucleus 0 0 4 1 5 2004-08-16 Q9NR80 ARHG4_HUMAN ARHGEF4 Rho guanine nucleotide exchange factor 4 690 79.1 2 Cytoplasm; Cell projection 0 0 4 1 5 2004-09-27 Q9NS87 KIF15_HUMAN KIF15 Kinesin-like protein KIF15 1388 160.2 3 Cytoplasm 0 1 Braddock-Carey syndrome 2 4 1 5 2008-04-08 Q9NT62 ATG3_HUMAN ATG3 Ubiquitin-like-conjugating enzyme ATG3 314 35.9 3 2.3.2.- Cytoplasm 0 0 4 1 5 2005-03-15 Q9NVP2 ASF1B_HUMAN ASF1B Histone chaperone ASF1B 202 22.4 19 Nucleus; Cytoplasm 0 0 4 1 5 2007-04-17 Q9NWF9 RN216_HUMAN RNF216 E3 ubiquitin-protein ligase RNF216 866 99.4 7 2.3.2.27 Cytoplasm; Cytoplasmic vesicle 0 1 Gordon Holmes syndrome 4 1 5 2001-09-26 Q9NX01 TXN4B_HUMAN TXNL4B Thioredoxin-like protein 4B 149 17 16 Nucleus 0 0 4 1 5 2004-08-31 Q9UHI7 S23A1_HUMAN SLC23A1 Solute carrier family 23 member 1 598 64.8 5 Cell membrane 12 0 4 1 5 2002-10-19 Q9UI32 GLSL_HUMAN GLS2 Glutaminase liver isoform, mitochondrial 602 66.3 12 3.5.1.2 Mitochondrion 0 0 4 1 5 2001-01-24 Q9UIJ7 KAD3_HUMAN AK3 GTP:AMP phosphotransferase AK3, mitochondrial 227 25.6 9 2.7.4.10 Mitochondrion matrix 0 0 4 1 5 2000-12-01 Q9ULR3 PPM1H_HUMAN PPM1H Protein phosphatase 1H 514 56.4 12 3.1.3.16 Nucleus; Cytoplasm 0 0 4 1 5 2007-05-15 Q9UMN6 KMT2B_HUMAN KMT2B Histone-lysine N-methyltransferase 2B 2715 293.5 19 2.1.1.364 Nucleus 0 2 Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 4 1 5 2000-12-01 Q9UPY5 XCT_HUMAN SLC7A11 Cystine/glutamate transporter 501 55.4 4 Cell membrane; Lysosome membrane; Cell projection 12 0 4 1 5 2001-01-24 Q9UQD0 SCN8A_HUMAN SCN8A Sodium channel protein type 8 subunit alpha 1980 225.3 12 Cell membrane; Cell projection 24 4 Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 4 1 5 2003-08-15 Q9UQK1 PPR3C_HUMAN PPP1R3C Protein phosphatase 1 regulatory subunit 3C 317 36.4 10 0 0 4 1 5 2007-05-01 Q9Y4W2 LAS1L_HUMAN LAS1L Ribosomal biogenesis protein LAS1L 734 83.1 X Nucleus; Cytoplasm 0 1 Intellectual developmental disorder, X-linked, syndromic, Wilson-Turner type 4 1 5 2005-08-30 Q9Y663 HS3SA_HUMAN HS3ST3A1 Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 406 44.9 17 2.8.2.30 Golgi apparatus membrane 1 0 4 1 5 2005-03-15 Q9Y6H6 KCNE3_HUMAN KCNE3 Potassium voltage-gated channel subfamily E member 3 103 11.7 11 Cell membrane; Cytoplasm; Perikaryon; Cell projection; Membrane raft 1 1 Brugada syndrome 6 4 1 5 2000-05-30 O00258 GET1_HUMAN GET1 Guided entry of tail-anchored proteins factor 1 174 19.8 21 Endoplasmic reticulum membrane 3 0 4 1 5 1997-11-01 O00472 ELL2_HUMAN ELL2 RNA polymerase II elongation factor ELL2 640 72.3 5 Nucleus 0 0 4 1 5 1998-12-15 O14556 G3PT_HUMAN GAPDHS Glyceraldehyde-3-phosphate dehydrogenase, testis-specific 408 44.5 19 1.2.1.12 Cytoplasm 0 0 4 1 5 2000-05-30 O14770 MEIS2_HUMAN MEIS2 Homeobox protein Meis2 477 51.8 15 Nucleus; Cytoplasm 0 1 Cleft palate, cardiac defects, and impaired intellectual development 4 1 5 1998-07-15 O14966 RAB7L_HUMAN RAB29 Ras-related protein Rab-29 203 23.2 1 3.6.5.2 Cell membrane; Cytoplasm; Golgi apparatus; Golgi apparatus membrane; Vacuole 0 0 4 1 5 2001-04-27 O15143 ARC1B_HUMAN ARPC1B Actin-related protein 2/3 complex subunit 1B 372 41 7 Cytoplasm; Nucleus 0 1 Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia 4 1 5 1998-07-15 O43516 WIPF1_HUMAN WIPF1 WAS/WASL-interacting protein family member 1 503 51.3 2 Cytoplasmic vesicle; Cytoplasm; Cell projection 0 1 Wiskott-Aldrich syndrome 2 4 1 5 2001-02-21 O43559 FRS3_HUMAN FRS3 Fibroblast growth factor receptor substrate 3 492 54.5 6 Membrane 0 0 4 1 5 2005-07-19 O43586 PPIP1_HUMAN PSTPIP1 Proline-serine-threonine phosphatase-interacting protein 1 416 47.6 15 Cytoplasm; Cell membrane; Cell projection; Cleavage furrow 0 2 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne; Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia 4 1 5 2005-09-13 O43617 TPPC3_HUMAN TRAPPC3 Trafficking protein particle complex subunit 3 180 20.3 1 Golgi apparatus; Endoplasmic reticulum 0 0 4 1 5 2002-04-16 O43681 GET3_HUMAN GET3 ATPase GET3 348 38.8 19 3.6.4.- Cytoplasm; Endoplasmic reticulum; Nucleus 0 1 Cardiomyopathy, dilated, 2H 4 1 5 2000-05-30 O43909 EXTL3_HUMAN EXTL3 Exostosin-like 3 919 104.7 8 2.4.1.223 Endoplasmic reticulum membrane; Golgi apparatus; Cell membrane; Nucleus 1 1 Immunoskeletal dysplasia with neurodevelopmental abnormalities 4 1 5 1999-07-15 O60506 HNRPQ_HUMAN SYNCRIP Heterogeneous nuclear ribonucleoprotein Q 623 69.6 6 Cytoplasm; Microsome; Endoplasmic reticulum; Nucleus 0 0 4 1 5 2004-03-01 O60826 CCD22_HUMAN CCDC22 Coiled-coil domain-containing protein 22 627 70.8 X Endosome; Cytoplasm 0 1 Ritscher-Schinzel syndrome 2 4 1 5 2005-12-06 O75031 HSF2B_HUMAN HSF2BP Heat shock factor 2-binding protein 334 37.6 21 Cytoplasm; Chromosome 0 1 Premature ovarian failure 19 4 1 5 2000-05-30 O75110 ATP9A_HUMAN ATP9A Probable phospholipid-transporting ATPase IIA 1047 118.6 20 7.6.2.1 Early endosome membrane; Recycling endosome membrane; Late endosome membrane; Golgi apparatus; Cell membrane 10 1 Neurodevelopmental disorder with poor growth and behavioral abnormalities 4 1 5 2000-05-30 O75182 SIN3B_HUMAN SIN3B Paired amphipathic helix protein Sin3b 1162 133.1 19 Nucleus 0 0 4 1 5 2003-10-24 O75817 POP7_HUMAN POP7 Ribonuclease P protein subunit p20 140 15.7 7 Nucleus; Cytoplasm; Cytoplasmic granule 0 0 4 1 5 2001-02-21 O75843 AP1G2_HUMAN AP1G2 AP-1 complex subunit gamma-like 2 785 87.1 14 Golgi apparatus membrane; Cytoplasmic vesicle membrane; Endosome membrane 0 0 4 1 5 2001-01-24 O95255 MRP6_HUMAN ABCC6 ATP-binding cassette sub-family C member 6 1503 164.9 16 7.6.2.-, 7.6.2.3 Basal cell membrane 17 2 Pseudoxanthoma elasticum; Arterial calcification of infancy, generalized, 2 4 1 5 2000-05-30 O95971 BY55_HUMAN CD160 CD160 antigen 181 19.8 1 Cell membrane 0 0 4 1 5 2001-10-18 P01178 NEU1_HUMAN OXT Oxytocin-neurophysin 1 proprotein 125 12.7 20 Cytoplasmic vesicle 0 0 4 1 5 1986-07-21 P01583 IL1A_HUMAN IL1A Interleukin-1 alpha 271 30.6 2 Nucleus; Cytoplasm; Secreted 0 0 4 1 5 1986-07-21 P02462 CO4A1_HUMAN COL4A1 Collagen alpha-1(IV) chain 1669 160.6 13 Secreted 0 6 Hereditary angiopathy with nephropathy aneurysms and muscle cramps; Brain small vessel disease 1 with or without ocular anomalies; Intracerebral hemorrhage; Tortuosity of retinal arteries; Schizencephaly; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 4 1 5 1986-07-21 P05120 PAI2_HUMAN SERPINB2 Plasminogen activator inhibitor 2 415 46.6 18 Cytoplasm; Secreted 0 0 4 1 5 1987-08-13 P07199 CENPB_HUMAN CENPB Major centromere autoantigen B 599 65.2 20 Nucleus; Chromosome 0 0 4 1 5 1988-04-01 P08100 OPSD_HUMAN RHO Rhodopsin 348 38.9 3 Photoreceptor outer segment membrane; Membrane 7 2 Retinitis pigmentosa 4; Night blindness, congenital stationary, autosomal dominant 1 4 1 5 1988-08-01 P08134 RHOC_HUMAN RHOC Rho-related GTP-binding protein RhoC 193 22 1 3.6.5.2 Cell membrane; Cleavage furrow 0 0 4 1 5 1988-08-01 P09210 GSTA2_HUMAN GSTA2 Glutathione S-transferase A2 222 25.7 6 2.5.1.18 Cytoplasm 0 0 4 1 5 1989-07-01 P12270 TPR_HUMAN TPR Nucleoprotein TPR 2363 267.3 1 Nucleus; Nucleus membrane; Nucleus envelope; Cytoplasm; Chromosome 0 1 Intellectual developmental disorder, autosomal recessive 79 4 1 5 1989-10-01 P12271 RLBP1_HUMAN RLBP1 Retinaldehyde-binding protein 1 317 36.5 15 Cytoplasm 0 3 Bothnia retinal dystrophy; Rod-cone dystrophy Newfoundland; Retinitis punctata albescens 4 1 5 1989-10-01 P14616 INSRR_HUMAN INSRR Insulin receptor-related protein 1297 143.7 1 2.7.10.1 Membrane 1 0 4 1 5 1990-04-01 P20160 CAP7_HUMAN AZU1 Azurocidin 251 26.9 19 Cytoplasmic granule membrane 0 0 4 1 5 1991-02-01 P21397 AOFA_HUMAN MAOA Amine oxidase [flavin-containing] A 527 59.7 X 1.4.3.21, 1.4.3.4 Mitochondrion outer membrane 1 1 Brunner syndrome 4 1 5 1991-05-01 P22234 PUR6_HUMAN PAICS Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase 425 47.1 4 0 1 Phosphoribosylaminoimidazole carboxylase deficiency 4 1 5 1991-08-01 P22692 IBP4_HUMAN IGFBP4 Insulin-like growth factor-binding protein 4 258 27.9 17 Secreted 0 0 4 1 5 1991-08-01 P22888 LSHR_HUMAN LHCGR Lutropin-choriogonadotropic hormone receptor 699 78.6 2 Cell membrane 7 2 Familial male precocious puberty; Luteinizing hormone resistance 4 1 5 1991-08-01 P30086 PEBP1_HUMAN PEBP1 Phosphatidylethanolamine-binding protein 1 187 21.1 12 Cytoplasm 0 0 4 1 5 1993-04-01 P30550 GRPR_HUMAN GRPR Gastrin-releasing peptide receptor 384 43.2 X Cell membrane 7 0 4 1 5 1993-04-01 P30566 PUR8_HUMAN ADSL Adenylosuccinate lyase 484 54.9 22 4.3.2.2 0 1 Adenylosuccinase deficiency 4 1 5 1993-04-01 P30926 ACHB4_HUMAN CHRNB4 Neuronal acetylcholine receptor subunit beta-4 498 56.4 15 Synaptic cell membrane; Cell membrane 4 0 4 1 5 1993-07-01 P31689 DNJA1_HUMAN DNAJA1 DnaJ homolog subfamily A member 1 397 44.9 9 Membrane; Cytoplasm; Microsome; Nucleus; Mitochondrion 0 0 4 1 5 1993-07-01 P36952 SPB5_HUMAN SERPINB5 Serpin B5 375 42.1 18 Secreted 0 0 4 1 5 1994-06-01 P36980 FHR2_HUMAN CFHR2 Complement factor H-related protein 2 270 30.7 1 Secreted 0 0 4 1 5 1994-06-01 P38117 ETFB_HUMAN ETFB Electron transfer flavoprotein subunit beta 255 27.8 19 Mitochondrion matrix 0 1 Glutaric aciduria 2B 4 1 5 1994-10-01 P41218 MNDA_HUMAN MNDA Myeloid cell nuclear differentiation antigen 407 45.8 1 Nucleus; Cytoplasm 0 0 4 1 5 1995-02-01 P48163 MAOX_HUMAN ME1 NADP-dependent malic enzyme 572 64.2 6 1.1.1.40 Cytoplasm 0 0 4 1 5 1996-02-01 P48995 TRPC1_HUMAN TRPC1 Short transient receptor potential channel 1 793 91.2 3 Cell membrane 6 0 4 1 5 1996-02-01 P51654 GPC3_HUMAN GPC3 Glypican-3 580 65.6 X Cell membrane 0 1 Simpson-Golabi-Behmel syndrome 1 4 1 5 1996-10-01 P51671 CCL11_HUMAN CCL11 Eotaxin 97 10.7 17 Secreted 0 0 4 1 5 1996-10-01 P55087 AQP4_HUMAN AQP4 Aquaporin-4 323 34.8 18 Cell membrane; Basolateral cell membrane; Endosome membrane; Cell projection 6 1 Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting 4 1 5 1996-10-01 P55795 HNRH2_HUMAN HNRNPH2 Heterogeneous nuclear ribonucleoprotein H2 449 49.3 X Nucleus 0 1 Intellectual developmental disorder, X-linked, syndromic, Bain type 4 1 5 1997-11-01 P63211 GBG1_HUMAN GNGT1 Guanine nucleotide-binding protein G(T) subunit gamma-T1 74 8.5 7 Cell membrane 0 0 4 1 5 2004-09-27 P63267 ACTH_HUMAN ACTG2 Actin, gamma-enteric smooth muscle 376 41.9 2 3.6.4.- Cytoplasm 0 2 Visceral myopathy 1; Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 4 1 5 2004-10-11 P82251 BAT1_HUMAN SLC7A9 b(0,+)-type amino acid transporter 1 487 53.5 19 Apical cell membrane; Cell membrane 12 1 Cystinuria 4 1 5 2001-01-24 P84074 HPCA_HUMAN HPCA Neuron-specific calcium-binding protein hippocalcin 193 22.4 1 Cytoplasm; Membrane 0 1 Dystonia 2, torsion, autosomal recessive 4 1 5 2004-08-16 P84090 ERH_HUMAN ERH Enhancer of rudimentary homolog 104 12.3 14 Nucleus 0 0 4 1 5 2004-08-16 P98164 LRP2_HUMAN LRP2 Low-density lipoprotein receptor-related protein 2 4655 522 2 Apical cell membrane; Endosome lumen; Membrane; Cell projection 1 1 Donnai-Barrow syndrome 4 1 5 1996-10-01 Q01433 AMPD2_HUMAN AMPD2 AMP deaminase 2 825 94.9 1 3.5.4.6 0 2 Pontocerebellar hypoplasia 9; Spastic paraplegia 63, autosomal recessive 4 1 5 1993-07-01 Q06141 REG3A_HUMAN REG3A Regenerating islet-derived protein 3-alpha 175 19.4 2 Secreted 0 0 4 1 5 1994-02-01 Q07617 SPAG1_HUMAN SPAG1 Sperm-associated antigen 1 926 103.6 8 Cytoplasm; Dynein axonemal particle 0 1 Ciliary dyskinesia, primary, 28 4 1 5 2005-02-01 Q12840 KIF5A_HUMAN KIF5A Kinesin heavy chain isoform 5A 1032 117.4 12 5.6.1.3 Cytoplasm; Perikaryon 0 3 Spastic paraplegia 10, autosomal dominant; Myoclonus, intractable, neonatal; Amyotrophic lateral sclerosis 25 4 1 5 1997-11-01 Q12906 ILF3_HUMAN ILF3 Interleukin enhancer-binding factor 3 894 95.3 19 Nucleus; Cytoplasm 0 0 4 1 5 2002-01-31 Q13241 KLRD1_HUMAN KLRD1 Natural killer cells antigen CD94 179 20.5 12 Cell membrane 1 0 4 1 5 1997-11-01 Q13261 I15RA_HUMAN IL15RA Interleukin-15 receptor subunit alpha 267 28.2 10 Membrane; Nucleus membrane; Cell surface 1 0 4 1 5 2005-02-01 Q14213 IL27B_HUMAN EBI3 Interleukin-27 subunit beta 229 25.4 19 Secreted 0 0 4 1 5 2004-05-24 Q15004 PAF15_HUMAN PCLAF PCNA-associated factor 111 12 15 Nucleus; Cytoplasm 0 0 4 1 5 1998-07-15 Q15007 FL2D_HUMAN WTAP Pre-mRNA-splicing regulator WTAP 396 44.2 6 Nucleus speckle; Nucleus; Cytoplasm 0 0 4 1 5 1998-07-15 Q15113 PCOC1_HUMAN PCOLCE Procollagen C-endopeptidase enhancer 1 449 48 7 Secreted 0 0 4 1 5 2000-05-30 Q15286 RAB35_HUMAN RAB35 Ras-related protein Rab-35 201 23 12 3.6.5.2 Cell membrane; Membrane; Cytoplasmic vesicle; Endosome; Melanosome 0 0 4 1 5 1998-07-15 Q15398 DLGP5_HUMAN DLGAP5 Disks large-associated protein 5 846 95.1 14 Nucleus; Cytoplasm 0 0 4 1 5 1998-07-15 Q16674 MIA_HUMAN MIA Melanoma-derived growth regulatory protein 131 14.5 19 Secreted 0 0 4 1 5 1997-11-01 Q5T280 SPOUT_HUMAN SPOUT1 28S rRNA (uridine-N(3))-methyltransferase 376 42 9 2.1.1.- Cytoplasm; Chromosome 0 1 Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities 4 1 5 2006-05-30 Q5T447 HECD3_HUMAN HECTD3 E3 ubiquitin-protein ligase HECTD3 861 97.1 1 2.3.2.26 Cytoplasm 0 0 4 1 5 2006-06-27 Q5TCZ1 SPD2A_HUMAN SH3PXD2A SH3 and PX domain-containing protein 2A 1133 125.3 10 Cytoplasm; Cell projection 0 0 4 1 5 2007-02-20 Q63HN8 RN213_HUMAN RNF213 E3 ubiquitin-protein ligase RNF213 5207 591.4 17 2.3.2.27, 3.6.4.- Cytoplasm; Lipid droplet 0 1 Moyamoya disease 2 4 1 5 2007-02-20 Q68D85 NR3L1_HUMAN NCR3LG1 Natural cytotoxicity triggering receptor 3 ligand 1 454 50.8 11 Cell membrane 1 0 4 1 5 2010-01-19 Q6NT16 S18B1_HUMAN SLC18B1 MFS-type transporter SLC18B1 456 48.9 6 Cytoplasmic vesicle 12 0 4 1 5 2007-07-10 Q6RFH5 WDR74_HUMAN WDR74 WD repeat-containing protein 74 385 42.4 11 Nucleus 0 0 4 1 5 2004-11-23 Q86UD5 SL9B2_HUMAN SLC9B2 Sodium/hydrogen exchanger 9B2 537 57.6 4 Cell membrane; Mitochondrion membrane; Endosome membrane; Recycling endosome membrane; Cytoplasmic vesicle; Cell projection; Basolateral cell membrane; Apical cell membrane 14 0 4 1 5 2008-04-29 Q86UW9 DTX2_HUMAN DTX2 Probable E3 ubiquitin-protein ligase DTX2 622 67.2 7 2.3.2.27 Chromosome; Cytoplasm; Nucleus 0 0 4 1 5 2003-09-26 Q8IWT3 CUL9_HUMAN CUL9 Cullin-9 2517 281.2 6 Cytoplasm 0 0 4 1 5 2004-03-01 Q8IYM1 SEP12_HUMAN SEPTIN12 Septin-12 358 40.7 16 Cytoplasm; Nucleus; Cell projection; Cytoplasmic vesicle 0 1 Spermatogenic failure 10 4 1 5 2007-12-04 Q8IYS5 OSCAR_HUMAN OSCAR Osteoclast-associated immunoglobulin-like receptor 282 30.5 19 Secreted 0 0 4 1 5 2007-11-13 Q8IYT8 ULK2_HUMAN ULK2 Serine/threonine-protein kinase ULK2 1036 112.7 17 2.7.11.1 Cytoplasmic vesicle membrane 0 0 4 1 5 2005-10-25 Q8N5Y8 PAR16_HUMAN PARP16 Protein mono-ADP-ribosyltransferase PARP16 322 36.4 15 2.4.2.- Endoplasmic reticulum membrane 1 0 4 1 5 2006-10-17 Q8N9N8 EIF1A_HUMAN EIF1AD Probable RNA-binding protein EIF1AD 165 19.1 11 Nucleus 0 0 4 1 5 2008-01-15 Q8NBN3 GPHCC_HUMAN TMEM87A Golgi-pH regulating cation channel 555 63.4 15 Cell membrane; Golgi apparatus membrane 7 0 4 1 5 2007-01-09 Q8TAA9 VANG1_HUMAN VANGL1 Vang-like protein 1 524 60 1 Cell membrane 4 2 Neural tube defects; Sacral defect with anterior meningocele 4 1 5 2003-10-31 Q8TCD5 NT5C_HUMAN NT5C 5'(3')-deoxyribonucleotidase, cytosolic type 201 23.4 17 3.1.3.- Cytoplasm 0 0 4 1 5 2003-10-31 Q8WVQ1 CANT1_HUMAN CANT1 Soluble calcium-activated nucleotidase 1 401 44.8 17 3.6.1.6 Endoplasmic reticulum membrane; Golgi apparatus; Cell membrane 1 2 Desbuquois dysplasia 1; Epiphyseal dysplasia, multiple, 7 4 1 5 2005-05-10 Q92585 MAML1_HUMAN MAML1 Mastermind-like protein 1 1016 108.1 5 Nucleus speckle 0 0 4 1 5 2005-07-05 Q92947 GCDH_HUMAN GCDH Glutaryl-CoA dehydrogenase, mitochondrial 438 48.1 19 1.3.8.6 Mitochondrion matrix 0 1 Glutaric aciduria 1 4 1 5 1997-11-01 Q92979 NEP1_HUMAN EMG1 Ribosomal RNA small subunit methyltransferase NEP1 244 26.7 12 2.1.1.- Nucleus 0 1 Bowen-Conradi syndrome 4 1 5 2002-05-10 Q93008 USP9X_HUMAN USP9X Ubiquitin carboxyl-terminal hydrolase 9X 2554 290.5 X 3.4.19.12 Cytoplasm; Cell projection 0 2 Intellectual developmental disorder, X-linked 99; Intellectual developmental disorder, X-linked 99, syndromic, female-restricted 4 1 5 1997-11-01 Q96EY1 DNJA3_HUMAN DNAJA3 DnaJ homolog subfamily A member 3, mitochondrial 480 52.5 16 Mitochondrion matrix; Cytoplasm; Postsynaptic cell membrane 0 0 4 1 5 2003-05-16 Q96JM3 CHAP1_HUMAN CHAMP1 Chromosome alignment-maintaining phosphoprotein 1 812 89.1 13 Nucleus; Chromosome; Cytoplasm 0 0 4 1 5 2006-09-05 Q96LT7 CI072_HUMAN C9orf72 Guanine nucleotide exchange factor C9orf72 481 54.3 9 Cytoplasm; Nucleus; Endosome; Lysosome; Cytoplasmic vesicle; Autolysosome; Secreted; Cell projection; Perikaryon 0 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 4 1 5 2005-07-19 Q96QE3 ATAD5_HUMAN ATAD5 ATPase family AAA domain-containing protein 5 1844 207.6 17 Nucleus 0 0 4 1 5 2008-02-05 Q99572 P2RX7_HUMAN P2RX7 P2X purinoceptor 7 595 68.6 12 Cell membrane 2 0 4 1 5 1997-11-01 Q99626 CDX2_HUMAN CDX2 Homeobox protein CDX-2 313 33.5 13 Nucleus 0 0 4 1 5 1997-11-01 Q99653 CHP1_HUMAN CHP1 Calcineurin B homologous protein 1 195 22.5 15 Nucleus; Cytoplasm; Endomembrane system; Endoplasmic reticulum-Golgi intermediate compartment; Endoplasmic reticulum; Cell membrane; Membrane 0 1 Spastic ataxia 9, autosomal recessive 4 1 5 1998-07-15 Q99661 KIF2C_HUMAN KIF2C Kinesin-like protein KIF2C 725 81.3 1 Cytoplasm; Nucleus; Chromosome 0 0 4 1 5 2001-01-11 Q9BW85 YJU2_HUMAN YJU2 Splicing factor YJU2 323 37.1 19 Nucleus 0 0 4 1 5 2006-05-02 Q9BXR0 TGT_HUMAN QTRT1 Queuine tRNA-ribosyltransferase catalytic subunit 1 403 44 19 2.4.2.64 Cytoplasm; Mitochondrion outer membrane 0 0 4 1 5 2002-05-02 Q9BY76 ANGL4_HUMAN ANGPTL4 Angiopoietin-related protein 4 406 45.2 19 Secreted 0 0 4 1 5 2002-11-08 Q9BZJ8 GPR61_HUMAN GPR61 G protein-coupled receptor 61 451 49.3 1 Cell membrane; Endosome membrane 7 0 4 1 5 2002-05-27 Q9H6Z4 RANB3_HUMAN RANBP3 Ran-binding protein 3 567 60.2 19 Cytoplasm; Nucleus 0 0 4 1 5 2004-08-16 Q9H7M9 VISTA_HUMAN VSIR V-type immunoglobulin domain-containing suppressor of T-cell activation 311 33.9 10 Cell membrane 1 0 4 1 5 2005-03-01 Q9HBM1 SPC25_HUMAN SPC25 Kinetochore protein Spc25 224 26.2 2 Nucleus; Chromosome 0 0 4 1 5 2006-09-19 Q9HCD5 NCOA5_HUMAN NCOA5 Nuclear receptor coactivator 5 579 65.5 20 Nucleus 0 0 4 1 5 2003-02-12 Q9NQ55 SSF1_HUMAN PPAN Suppressor of SWI4 1 homolog 473 53.2 19 Nucleus 0 0 4 1 5 2002-05-27 Q9NRC8 SIR7_HUMAN SIRT7 NAD-dependent protein deacetylase sirtuin-7 400 44.9 17 2.3.1.286 Nucleus; Chromosome; Cytoplasm 0 0 4 1 5 2003-10-31 Q9NS82 AAA1_HUMAN SLC7A10 Asc-type amino acid transporter 1 523 56.8 19 Cell membrane 9 0 4 1 5 2002-11-15 Q9NV31 IMP3_HUMAN IMP3 U3 small nucleolar ribonucleoprotein protein IMP3 184 21.9 15 Nucleus 0 0 4 1 5 2004-09-27 Q9NZN8 CNOT2_HUMAN CNOT2 CCR4-NOT transcription complex subunit 2 540 59.7 12 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 4 1 5 2004-04-13 Q9UBU3 GHRL_HUMAN GHRL Appetite-regulating hormone 117 12.9 3 Secreted 0 0 4 1 5 2001-12-13 Q9UGM1 ACHA9_HUMAN CHRNA9 Neuronal acetylcholine receptor subunit alpha-9 479 54.8 4 Synaptic cell membrane; Cell membrane 4 0 4 1 5 2001-04-27 Q9UHL9 GT2D1_HUMAN GTF2IRD1 General transcription factor II-I repeat domain-containing protein 1 959 106.1 7 Nucleus 0 0 4 1 5 2002-05-27 Q9UI43 MRM2_HUMAN MRM2 rRNA methyltransferase 2, mitochondrial 246 27.4 7 2.1.1.- Mitochondrion 0 1 Mitochondrial DNA depletion syndrome 17 4 1 5 2000-12-01 Q9UK55 ZPI_HUMAN SERPINA10 Protein Z-dependent protease inhibitor 444 50.7 14 Secreted 0 0 4 1 5 2001-01-24 Q9UKY1 ZHX1_HUMAN ZHX1 Zinc fingers and homeoboxes protein 1 873 98.1 8 Nucleus 0 0 4 1 5 2004-03-01 Q9UNW8 GP132_HUMAN GPR132 Probable G protein-coupled receptor 132 380 42.5 14 Cell membrane 7 0 4 1 5 2003-10-03 Q9Y2T7 YBOX2_HUMAN YBX2 Y-box-binding protein 2 364 38.5 17 Cytoplasm; Nucleus 0 0 4 1 5 2005-03-15 Q9Y337 KLK5_HUMAN KLK5 Kallikrein-5 293 32 19 3.4.21.- Secreted 0 0 4 1 5 2000-12-01 Q9Y3Q0 NALD2_HUMAN NAALAD2 N-acetylated-alpha-linked acidic dipeptidase 2 740 83.6 11 3.4.17.21 Cell membrane 1 0 4 1 5 2002-02-11 Q9Y3T9 NOC2L_HUMAN NOC2L Nucleolar complex protein 2 homolog 749 84.9 1 Nucleus 0 0 4 1 5 2000-05-30 Q9Y490 TLN1_HUMAN TLN1 Talin-1 2541 269.8 9 Cell projection; Cytoplasm; Cell surface; Cell junction 0 0 4 1 5 2000-12-01 Q9Y5N6 ORC6_HUMAN ORC6 Origin recognition complex subunit 6 252 28.1 16 Nucleus 0 1 Meier-Gorlin syndrome 3 4 1 5 2000-12-01 A0FGR8 ESYT2_HUMAN ESYT2 Extended synaptotagmin-2 921 102.4 7 Cell membrane; Endoplasmic reticulum membrane 2 0 4 1 5 2007-02-20 A6NGQ2 OOEP_HUMAN OOEP Oocyte-expressed protein homolog 149 17.2 6 Cytoplasm; Nucleus 0 0 4 1 5 2008-04-08 A8MTJ3 GNAT3_HUMAN GNAT3 Guanine nucleotide-binding protein G(t) subunit alpha-3 354 40.4 7 Cytoplasm 0 0 4 1 5 2008-07-01 A8MW95 BECN2_HUMAN BECN2 Beclin-2 431 48.2 1 Cytoplasm 0 0 4 1 5 2008-04-29 O00204 ST2B1_HUMAN SULT2B1 Sulfotransferase 2B1 365 41.3 19 2.8.2.2 Cytoplasm; Microsome; Nucleus 0 1 Ichthyosis, congenital, autosomal recessive 14 4 1 5 2005-01-04 O00391 QSOX1_HUMAN QSOX1 Sulfhydryl oxidase 1 747 82.6 1 1.8.3.2 Golgi apparatus membrane; Secreted 1 0 4 1 5 2006-09-19 O00555 CAC1A_HUMAN CACNA1A Voltage-dependent P/Q-type calcium channel subunit alpha-1A 2506 282.6 19 Cell membrane 24 4 Spinocerebellar ataxia 6; Migraine, familial hemiplegic, 1; Episodic ataxia 2; Developmental and epileptic encephalopathy 42 4 1 5 1999-07-15 O15438 MRP3_HUMAN ABCC3 ATP-binding cassette sub-family C member 3 1527 169.3 17 7.6.2.-, 7.6.2.2, 7.6.2.3 Basolateral cell membrane; Basal cell membrane 17 0 4 1 5 1998-07-15 O43193 MTLR_HUMAN MLNR Motilin receptor 412 45.3 13 Cell membrane 7 0 4 1 5 1998-12-15 O43927 CXL13_HUMAN CXCL13 C-X-C motif chemokine 13 109 12.7 4 Secreted 0 0 4 1 5 2000-05-30 O60711 LPXN_HUMAN LPXN Leupaxin 386 43.3 11 Cytoplasm; Cell junction; Nucleus; Cell projection; Cell membrane 0 0 4 1 5 2000-05-30 O75362 ZN217_HUMAN ZNF217 Zinc finger protein 217 1048 115.3 20 Nucleus 0 0 4 1 5 2001-01-24 O75689 ADAP1_HUMAN ADAP1 Arf-GAP with dual PH domain-containing protein 1 374 43.4 7 Nucleus; Cytoplasm 0 0 4 1 5 2005-07-05 O76036 NCTR1_HUMAN NCR1 Natural cytotoxicity triggering receptor 1 304 34.5 19 Cell membrane 1 0 4 1 5 2004-05-24 O94864 ST65G_HUMAN SUPT7L STAGA complex 65 subunit gamma 414 46.2 2 Nucleus 0 1 Fischer-Zirnsak progeroid syndrome 4 1 5 2002-09-19 O95297 MPZL1_HUMAN MPZL1 Myelin protein zero-like protein 1 269 29.1 1 Membrane 1 0 4 1 5 2006-06-27 O95405 ZFYV9_HUMAN ZFYVE9 Zinc finger FYVE domain-containing protein 9 1425 156.4 1 Cytoplasm; Early endosome membrane 0 0 4 1 5 2001-08-14 O95461 LARG1_HUMAN LARGE1 Xylosyl- and glucuronyltransferase LARGE1 756 88.1 22 2.4.-.- Golgi apparatus membrane 1 2 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B6; Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 4 1 5 2002-07-26 O95994 AGR2_HUMAN AGR2 Anterior gradient protein 2 homolog 175 20 7 Secreted; Endoplasmic reticulum 0 1 Respiratory infections, recurrent, and failure to thrive with or without diarrhea 4 1 5 2005-05-10 P04183 KITH_HUMAN TK1 Thymidine kinase, cytosolic 234 25.5 17 2.7.1.21 Cytoplasm 0 0 4 1 5 1987-03-20 P05108 CP11A_HUMAN CYP11A1 Cholesterol side-chain cleavage enzyme, mitochondrial 521 60.1 15 1.14.15.6 Mitochondrion inner membrane 0 1 Adrenal insufficiency, congenital, with 46,XY sex reversal 4 1 5 1987-08-13 P05162 LEG2_HUMAN LGALS2 Galectin-2 132 14.6 22 0 0 4 1 5 1987-08-13 P09238 MMP10_HUMAN MMP10 Stromelysin-2 476 54.2 11 3.4.24.22 Secreted 0 0 4 1 5 1989-07-01 P0DJI8 SAA1_HUMAN SAA1 Serum amyloid A-1 protein 122 13.5 11 Secreted 0 0 4 1 5 2012-07-11 P0DTU3 TRAR2_HUMAN TRA T cell receptor alpha chain MC.7.G5 275 31 Cell membrane 1 0 4 1 5 2020-06-17 P16035 TIMP2_HUMAN TIMP2 Metalloproteinase inhibitor 2 220 24.4 17 Secreted 0 0 4 1 5 1990-04-01 P16233 LIPP_HUMAN PNLIP Pancreatic triacylglycerol lipase 465 51.2 10 3.1.1.3 Secreted 0 1 Pancreatic lipase deficiency 4 1 5 1990-04-01 P17480 UBF1_HUMAN UBTF Nucleolar transcription factor 1 764 89.4 17 Nucleus 0 1 Neurodegeneration, childhood-onset, with brain atrophy 4 1 5 1990-08-01 P18583 SON_HUMAN SON Protein SON 2426 263.8 21 Nucleus speckle 0 1 ZTTK syndrome 4 1 5 1990-11-01 P19338 NUCL_HUMAN NCL Nucleolin 710 76.6 2 Nucleus; Cytoplasm 0 0 4 1 5 1990-11-01 P19971 TYPH_HUMAN TYMP Thymidine phosphorylase 482 50 22 2.4.2.4 0 1 Mitochondrial DNA depletion syndrome 1, MNGIE type 4 1 5 1991-02-01 P22362 CCL1_HUMAN CCL1 C-C motif chemokine 1 96 11 17 Secreted 0 0 4 1 5 1991-08-01 P24723 KPCL_HUMAN PRKCH Protein kinase C eta type 683 77.8 14 2.7.11.13 Cytoplasm 0 1 Ischemic stroke 4 1 5 1992-03-01 P25791 RBTN2_HUMAN LMO2 Rhombotin-2 158 18.4 11 Nucleus 0 0 4 1 5 1992-05-01 P25815 S100P_HUMAN S100P Protein S100-P 95 10.4 4 Nucleus; Cytoplasm; Cell projection 0 0 4 1 5 1992-05-01 P26951 IL3RA_HUMAN IL3RA Interleukin-3 receptor subunit alpha 378 43.3 X Cell membrane 1 0 4 1 5 1993-10-01 P28067 DMA_HUMAN HLA-DMA HLA class II histocompatibility antigen, DM alpha chain 261 29.2 6 Late endosome membrane; Lysosome membrane 1 0 4 1 5 1992-08-01 P28288 ABCD3_HUMAN ABCD3 ATP-binding cassette sub-family D member 3 659 75.5 1 3.1.2.-, 7.6.2.- Peroxisome membrane 6 2 Congenital bile acid synthesis defect 5; Oculopharyngodistal myopathy 5 4 1 5 1992-12-01 P28324 ELK4_HUMAN ELK4 ETS domain-containing protein Elk-4 431 46.9 1 Nucleus 0 0 4 1 5 1992-12-01 P28676 GRAN_HUMAN GCA Grancalcin 217 24 2 Cytoplasm; Cytoplasmic granule membrane 0 0 4 1 5 1992-12-01 P31997 CEAM8_HUMAN CEACAM8 Cell adhesion molecule CEACAM8 349 38.2 19 Cell membrane; Cell surface 0 0 4 1 5 1993-07-01 P35052 GPC1_HUMAN GPC1 Glypican-1 558 61.7 2 Cell membrane; Endosome 0 0 4 1 5 1994-02-01 P35251 RFC1_HUMAN RFC1 Replication factor C subunit 1 1148 128.3 4 Nucleus 0 1 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 4 1 5 1994-02-01 P40199 CEAM6_HUMAN CEACAM6 Cell adhesion molecule CEACAM6 344 37.2 19 Cell membrane; Apical cell membrane; Cell surface 0 0 4 1 5 1995-02-01 P42356 PI4KA_HUMAN PI4KA Phosphatidylinositol 4-kinase alpha 2102 236.8 22 2.7.1.67 Cytoplasm; Cell membrane 0 3 Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities; Gastrointestinal defects and immunodeficiency syndrome 2; Spastic paraplegia 84, autosomal recessive 4 1 5 1995-11-01 P42898 MTHR_HUMAN MTHFR Methylenetetrahydrofolate reductase (NADPH) 656 74.6 1 1.5.1.53 0 4 Homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity; Ischemic stroke; Neural tube defects, folate-sensitive; Schizophrenia 4 1 5 1995-11-01 P45985 MP2K4_HUMAN MAP2K4 Dual specificity mitogen-activated protein kinase kinase 4 399 44.3 17 2.7.12.2 Cytoplasm; Nucleus 0 0 4 1 5 1995-11-01 P46736 BRCC3_HUMAN BRCC3 Lys-63-specific deubiquitinase BRCC36 316 36.1 X 3.4.19.- Nucleus; Cytoplasm 0 0 4 1 5 1995-11-01 P49765 VEGFB_HUMAN VEGFB Vascular endothelial growth factor B 207 21.6 11 Secreted 0 0 4 1 5 1996-10-01 P49903 SPS1_HUMAN SEPHS1 Zincore component SEPHS1 392 42.9 10 Nucleus; Chromosome; Cytoplasm 0 1 Ververi-Brady syndrome 2 4 1 5 1996-10-01 P51124 GRAM_HUMAN GZMM Granzyme M 257 27.5 19 3.4.21.- Secreted; Cytoplasmic granule 0 0 4 1 5 1996-10-01 P52272 HNRPM_HUMAN HNRNPM Heterogeneous nuclear ribonucleoprotein M 730 77.5 19 Nucleus 0 0 4 1 5 1996-10-01 P52294 IMA5_HUMAN KPNA1 Importin subunit alpha-5 538 60.2 3 Cytoplasm; Nucleus 0 0 4 1 5 1996-10-01 P58546 MTPN_HUMAN MTPN Myotrophin 118 12.9 7 Cytoplasm; Nucleus 0 0 4 1 5 2002-01-23 P68371 TBB4B_HUMAN TUBB4B Tubulin beta-4B chain 445 49.8 9 Cytoplasm 0 1 Leber congenital amaurosis with early-onset deafness 4 1 5 1987-08-13 P83111 LACTB_HUMAN LACTB Serine beta-lactamase-like protein LACTB, mitochondrial 547 60.7 15 3.4.-.- Mitochondrion 0 0 4 1 5 2001-09-26 P83369 LSM11_HUMAN LSM11 U7 snRNA-associated Sm-like protein LSm11 360 39.5 5 Nucleus 0 1 Aicardi-Goutieres syndrome 8 4 1 5 2003-10-10 Q04912 RON_HUMAN MST1R Macrophage-stimulating protein receptor 1400 152.2 3 2.7.10.1 Membrane 1 1 Nasopharyngeal carcinoma, 3 4 1 5 1994-10-01 Q12789 TF3C1_HUMAN GTF3C1 General transcription factor 3C polypeptide 1 2109 238.9 16 Nucleus 0 0 4 1 5 2004-06-07 Q12974 TP4A2_HUMAN PTP4A2 Protein tyrosine phosphatase type IVA 2 167 19.1 1 3.1.3.48 Cell membrane; Early endosome; Cytoplasm 0 0 4 1 5 2005-07-05 Q13123 RED_HUMAN IK Protein Red 557 65.6 5 Nucleus; Chromosome; Cytoplasm 0 0 4 1 5 1999-07-15 Q13454 TUSC3_HUMAN TUSC3 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit TUSC3 348 39.7 8 Endoplasmic reticulum membrane 4 1 Intellectual developmental disorder, autosomal recessive 7 4 1 5 1999-07-15 Q13467 FZD5_HUMAN FZD5 Frizzled-5 585 64.5 2 Cell membrane; Golgi apparatus membrane; Synapse; Perikaryon; Cell projection 7 1 Microphthalmia/Coloboma 11 4 1 5 2001-12-05 Q13572 ITPK1_HUMAN ITPK1 Inositol-tetrakisphosphate 1-kinase 414 45.6 14 2.7.1.134 0 0 4 1 5 2005-12-06 Q13591 SEM5A_HUMAN SEMA5A Semaphorin-5A 1074 120.6 5 Membrane 1 0 4 1 5 2000-05-30 Q13907 IDI1_HUMAN IDI1 Isopentenyl-diphosphate Delta-isomerase 1 227 26.3 10 5.3.3.2 Peroxisome 0 0 4 1 5 2000-05-30 Q14050 CO9A3_HUMAN COL9A3 Collagen alpha-3(IX) chain 684 63.6 20 Secreted 0 3 Multiple epiphyseal dysplasia 3; Intervertebral disc disease; Stickler syndrome 6 4 1 5 2002-01-23 Q14055 CO9A2_HUMAN COL9A2 Collagen alpha-2(IX) chain 689 65.1 1 Secreted 0 3 Multiple epiphyseal dysplasia 2; Intervertebral disc disease; Stickler syndrome 5 4 1 5 2002-01-23 Q14061 COX17_HUMAN COX17 Cytochrome c oxidase copper chaperone 63 6.9 3 Mitochondrion intermembrane space; Cytoplasm 0 0 4 1 5 1997-11-01 Q14114 LRP8_HUMAN LRP8 Low-density lipoprotein receptor-related protein 8 963 105.6 1 Cell membrane; Secreted 1 1 Myocardial infarction 1 4 1 5 2004-05-10 Q14192 FHL2_HUMAN FHL2 Four and a half LIM domains protein 2 279 32.2 2 Cytoplasm; Nucleus 0 0 4 1 5 1997-11-01 Q15599 NHRF2_HUMAN NHERF2 Na(+)/H(+) exchange regulatory cofactor NHE-RF2 337 37.4 16 Endomembrane system; Nucleus; Apical cell membrane 0 0 4 1 5 2004-02-16 Q15631 TSN_HUMAN TSN Translin 228 26.2 2 3.1.-.- Cytoplasm; Nucleus 0 0 4 1 5 1999-07-15 Q16513 PKN2_HUMAN PKN2 Serine/threonine-protein kinase N2 984 112 1 2.7.11.13 Cytoplasm; Nucleus; Membrane; Cell projection; Cleavage furrow; Midbody; Cell junction 0 0 4 1 5 2000-05-30 Q5FBB7 SGO1_HUMAN SGO1 Shugoshin 1 561 64.2 3 Nucleus; Chromosome; Cytoplasm; Nucleus speckle 0 1 Chronic atrial and intestinal dysrhythmia 4 1 5 2006-01-10 Q5T5Y3 CAMP1_HUMAN CAMSAP1 Calmodulin-regulated spectrin-associated protein 1 1602 178 9 Cytoplasm 0 1 Cortical dysplasia, complex, with other brain malformations 12 4 1 5 2008-02-05 Q5TAX3 TUT4_HUMAN TUT4 Terminal uridylyltransferase 4 1644 185.2 1 2.7.7.52 Nucleus; Cytoplasm 0 0 4 1 5 2005-05-10 Q5TBB1 RNH2B_HUMAN RNASEH2B Ribonuclease H2 subunit B 312 35.1 13 Nucleus 0 1 Aicardi-Goutieres syndrome 2 4 1 5 2006-09-05 Q5U5Q3 MEX3C_HUMAN MEX3C RNA-binding E3 ubiquitin-protein ligase MEX3C 659 69.4 18 2.3.2.27 Cytoplasm; Nucleus 0 0 4 1 5 2007-02-20 Q5VWK5 IL23R_HUMAN IL23R Interleukin-23 receptor 629 71.7 1 Cell membrane 1 1 Inflammatory bowel disease 17 4 1 5 2006-12-12 Q6IA86 ELP2_HUMAN ELP2 Elongator complex protein 2 826 92.5 18 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 58 4 1 5 2005-12-06 Q6NTF7 ABC3H_HUMAN APOBEC3H DNA dC->dU-editing enzyme APOBEC-3H 200 23.5 22 3.5.4.38 Cytoplasm; Nucleus 0 0 4 1 5 2007-06-26 Q6P1K2 PMF1_HUMAN PMF1 Polyamine-modulated factor 1 205 23.3 1 Nucleus; Chromosome 0 0 4 1 5 2006-09-05 Q6UWY2 PRS57_HUMAN PRSS57 Serine protease 57 283 30.3 19 3.4.21.- Cytoplasmic granule lumen; Secreted 0 0 4 1 5 2007-07-24 Q6UWZ7 ABRX1_HUMAN ABRAXAS1 BRCA1-A complex subunit Abraxas 1 409 46.7 4 Nucleus 0 1 Breast cancer 4 1 5 2007-02-20 Q6ZNA4 RN111_HUMAN RNF111 E3 ubiquitin-protein ligase Arkadia 994 108.9 15 2.3.2.27 Nucleus; Cytoplasm 0 0 4 1 5 2007-03-20 Q86UW6 N4BP2_HUMAN N4BP2 NEDD4-binding protein 2 1770 198.8 4 3.-.-.- Cytoplasm 0 0 4 1 5 2004-03-15 Q86UX7 URP2_HUMAN FERMT3 Fermitin family homolog 3 667 76 11 Cell projection 0 1 Leukocyte adhesion deficiency 3 4 1 5 2004-01-16 Q86VX2 COMD7_HUMAN COMMD7 COMM domain-containing protein 7 200 22.5 20 Cytoplasmic vesicle 0 0 4 1 5 2004-08-16 Q8IU99 CAHM1_HUMAN CALHM1 Calcium homeostasis modulator protein 1 346 38.3 10 Cell membrane; Endoplasmic reticulum membrane; Basolateral cell membrane 4 0 4 1 5 2005-07-05 Q8IVG9 HUNIN_HUMAN MT-RNR2 Humanin 24 2.7 MT Secreted; Cytoplasm; Cell projection; Nucleus; Mitochondrion 0 0 4 1 5 2004-09-27 Q8IYU2 HACE1_HUMAN HACE1 E3 ubiquitin-protein ligase HACE1 909 102.3 6 2.3.2.26 Golgi apparatus; Cytoplasm; Endoplasmic reticulum 0 1 Spastic paraplegia and psychomotor retardation with or without seizures 4 1 5 2007-03-20 Q8NBS3 S4A11_HUMAN SLC4A11 Solute carrier family 4 member 11 875 98.2 20 Cell membrane; Basolateral cell membrane 14 3 Corneal dystrophy and perceptive deafness; Corneal endothelial dystrophy; Corneal dystrophy, Fuchs endothelial, 4 4 1 5 2003-04-04 Q8NBT2 SPC24_HUMAN SPC24 Kinetochore protein Spc24 197 22.4 19 Nucleus; Chromosome 0 0 4 1 5 2006-09-19 Q8NDI1 EHBP1_HUMAN EHBP1 EH domain-binding protein 1 1231 140 2 Cytoplasm; Membrane; Endosome 0 1 Prostate cancer, hereditary, 12 4 1 5 2007-05-01 Q8NFG4 FLCN_HUMAN FLCN Folliculin 579 64.5 17 Lysosome membrane; Cytoplasm; Cell projection; Nucleus 0 3 Birt-Hogg-Dube syndrome 1; Primary spontaneous pneumothorax; Renal cell carcinoma 4 1 5 2006-02-21 Q8NFH4 NUP37_HUMAN NUP37 Nucleoporin Nup37 326 36.7 12 Chromosome; Nucleus 0 1 Microcephaly 24, primary, autosomal recessive 4 1 5 2003-01-27 Q8NFT2 STEA2_HUMAN STEAP2 Metalloreductase STEAP2 490 56.1 7 1.16.1.- Endosome membrane; Cell membrane 6 0 4 1 5 2005-05-10 Q8NFZ0 FBH1_HUMAN FBH1 F-box DNA helicase 1 1043 117.7 10 5.6.2.4 Nucleus; Chromosome 0 0 4 1 5 2004-03-15 Q8NHX9 TPC2_HUMAN TPCN2 Two pore channel protein 2 752 85.2 11 Late endosome membrane; Lysosome membrane; Melanosome membrane 12 0 4 1 5 2007-02-06 Q8TED0 UTP15_HUMAN UTP15 U3 small nucleolar RNA-associated protein 15 homolog 518 58.4 5 Nucleus 0 0 4 1 5 2005-08-30 Q8WXF3 REL3_HUMAN RLN3 Relaxin-3 142 15.5 19 Secreted 0 0 4 1 5 2003-10-10 Q92560 BAP1_HUMAN BAP1 Ubiquitin carboxyl-terminal hydrolase BAP1 729 80.4 3 3.4.19.12 Cytoplasm; Nucleus; Chromosome 0 4 Mesothelioma, malignant; Tumor predisposition syndrome 1; Melanoma, uveal, 2; Kury-Isidor syndrome 4 1 5 2005-07-05 Q92620 PRP16_HUMAN DHX38 Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 1227 140.5 16 3.6.4.13 Nucleus 0 1 Retinitis pigmentosa 84 4 1 5 1998-07-15 Q92800 EZH1_HUMAN EZH1 Histone-lysine N-methyltransferase EZH1 747 85.3 17 2.1.1.356 Nucleus 0 0 4 1 5 1998-07-15 Q92882 OSTF1_HUMAN OSTF1 Osteoclast-stimulating factor 1 214 23.8 9 Cytoplasm 0 0 4 1 5 2000-12-01 Q93096 TP4A1_HUMAN PTP4A1 Protein tyrosine phosphatase type IVA 1 173 19.8 6 3.1.3.48 Cell membrane; Early endosome; Endoplasmic reticulum; Cytoplasm; Nucleus 0 0 4 1 5 2005-07-05 Q969G6 RIFK_HUMAN RFK Riboflavin kinase 155 17.6 9 2.7.1.26 Cytoplasm 0 0 4 1 5 2003-10-03 Q96A72 MGN2_HUMAN MAGOHB Protein mago nashi homolog 2 148 17.3 12 Nucleus 0 0 4 1 5 2005-09-13 Q96AB6 NTAN1_HUMAN NTAN1 Protein N-terminal asparagine amidohydrolase 310 34.7 16 3.5.1.121 Cytoplasm 0 0 4 1 5 2003-09-26 Q96CG3 TIFA_HUMAN TIFA TRAF-interacting protein with FHA domain-containing protein A 184 21.4 4 Cytoplasm 0 0 4 1 5 2008-02-26 Q96F81 DISP1_HUMAN DISP1 Protein dispatched homolog 1 1524 170.9 1 Membrane 12 1 Holoprosencephaly 10 4 1 5 2007-11-13 Q96J01 THOC3_HUMAN THOC3 THO complex subunit 3 351 38.8 5 Nucleus; Nucleus speckle 0 0 4 1 5 2003-10-10 Q96JN0 LCOR_HUMAN LCOR Ligand-dependent corepressor 433 47 10 Nucleus 0 0 4 1 5 2006-05-30 Q96RE7 NACC1_HUMAN NACC1 Nucleus accumbens-associated protein 1 527 57.3 19 Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 4 1 5 2007-01-23 Q96RY7 IF140_HUMAN IFT140 Intraflagellar transport protein 140 homolog 1462 165.2 16 Cytoplasm; Cell projection 0 4 Short-rib thoracic dysplasia 9 with or without polydactyly; Retinitis pigmentosa 80; Polycystic kidney disease 9; Cranioectodermal dysplasia 5 4 1 5 2005-11-22 Q96S52 PIGS_HUMAN PIGS GPI-anchor transamidase component PIGS 555 61.7 17 Endoplasmic reticulum membrane 2 1 Glycosylphosphatidylinositol biosynthesis defect 18 4 1 5 2002-07-11 Q99952 PTN18_HUMAN PTPN18 Tyrosine-protein phosphatase non-receptor type 18 460 50.5 2 3.1.3.48 Nucleus; Cytoplasm 0 0 4 1 5 2002-03-27 Q9BY32 ITPA_HUMAN ITPA Inosine triphosphate pyrophosphatase 194 21.4 20 3.6.1.66 Cytoplasm 0 2 Inosine triphosphate pyrophosphohydrolase deficiency; Developmental and epileptic encephalopathy 35 4 1 5 2003-04-23 Q9H161 ALX4_HUMAN ALX4 Homeobox protein aristaless-like 4 411 44.2 11 Nucleus 0 4 Parietal foramina 2; Frontonasal dysplasia 2; Potocki-Shaffer syndrome; Craniosynostosis 5 4 1 5 2001-04-27 Q9H173 SIL1_HUMAN SIL1 Nucleotide exchange factor SIL1 461 52.1 5 Endoplasmic reticulum lumen 0 1 Marinesco-Sjoegren syndrome 4 1 5 2006-02-21 Q9H2H8 PPIL3_HUMAN PPIL3 Peptidyl-prolyl cis-trans isomerase-like 3 161 18.2 2 5.2.1.8 0 0 4 1 5 2005-08-30 Q9H444 CHM4B_HUMAN CHMP4B Charged multivesicular body protein 4b 224 25 20 Cytoplasm; Late endosome membrane; Midbody; Nucleus envelope 0 1 Cataract 31, multiple types 4 1 5 2002-11-01 Q9H461 FZD8_HUMAN FZD8 Frizzled-8 694 73.3 10 Membrane; Golgi apparatus; Cell membrane 7 0 4 1 5 2001-12-05 Q9H490 PIGU_HUMAN PIGU GPI-anchor transamidase component PIGU 435 50.1 20 Endoplasmic reticulum membrane 12 1 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis 4 1 5 2003-03-25 Q9H4K7 MTG2_HUMAN MTG2 Mitochondrial ribosome-associated GTPase 2 406 44 20 Mitochondrion; Mitochondrion inner membrane 0 0 4 1 5 2003-07-03 Q9H4L7 SMRCD_HUMAN SMARCAD1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 1026 117.4 4 3.6.4.- Nucleus; Chromosome 0 3 Adermatoglyphia; Basan syndrome; Huriez syndrome 4 1 5 2003-03-28 Q9H790 EXO5_HUMAN EXO5 Exonuclease V 373 41.8 1 3.1.-.- Nucleus; Cytoplasm 0 0 4 1 5 2007-10-23 Q9HAD4 WDR41_HUMAN WDR41 WD repeat-containing protein 41 459 51.7 5 Cytoplasm 0 0 4 1 5 2005-11-22 Q9NPG1 FZD3_HUMAN FZD3 Frizzled-3 666 76.3 8 Membrane; Cell membrane; Cell surface; Apical cell membrane 7 0 4 1 5 2001-12-05 Q9NYV7 T2R16_HUMAN TAS2R16 Taste receptor type 2 member 16 291 34 7 Cell membrane 7 0 4 1 5 2003-04-11 Q9P218 COKA1_HUMAN COL20A1 Collagen alpha-1(XX) chain 1284 135.8 20 Secreted 0 0 4 1 5 2002-10-10 Q9P2H5 UBP35_HUMAN USP35 Ubiquitin carboxyl-terminal hydrolase 35 1018 113.4 11 3.4.19.12 Cytoplasm; Mitochondrion 0 0 4 1 5 2003-10-10 Q9UHD9 UBQL2_HUMAN UBQLN2 Ubiquilin-2 624 65.7 X Cytoplasm; Nucleus; Membrane; Cytoplasmic vesicle 0 1 Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia 4 1 5 2004-03-29 Q9UHI8 ATS1_HUMAN ADAMTS1 A disintegrin and metalloproteinase with thrombospondin motifs 1 967 105.4 21 3.4.24.- Secreted 0 0 4 1 5 2000-05-30 Q9UK80 UBP21_HUMAN USP21 Ubiquitin carboxyl-terminal hydrolase 21 565 62.7 1 3.4.19.12 Cytoplasm; Nucleus 0 0 4 1 5 2000-12-01 Q9UPS6 SET1B_HUMAN SETD1B Histone-lysine N-methyltransferase SETD1B 1966 212.8 12 2.1.1.364 Nucleus; Nucleus speckle; Chromosome; Cytoplasm 0 1 Intellectual developmental disorder with seizures and language delay 4 1 5 2008-02-05 Q9UPV0 CE164_HUMAN CEP164 Centrosomal protein of 164 kDa 1460 164.3 11 Cytoplasm; Nucleus 0 1 Nephronophthisis 15 4 1 5 2007-12-04 Q9UQF0 SYCY1_HUMAN ERVW-1 Syncytin-1 538 59.9 7 Cell membrane 1 0 4 1 5 2004-05-24 Q9Y6B6 SAR1B_HUMAN SAR1B Small COPII coat GTPase SAR1B 198 22.4 5 3.6.5.2 Endoplasmic reticulum membrane; Golgi apparatus; Cytoplasm; Lysosome membrane 0 1 Chylomicron retention disease 4 1 5 2001-06-01 Q9Y6M1 IF2B2_HUMAN IGF2BP2 Insulin-like growth factor 2 mRNA-binding protein 2 599 66.1 3 Nucleus; Cytoplasm 0 0 4 1 5 2006-06-27 A1Z1Q3 MACD2_HUMAN MACROD2 ADP-ribose glycohydrolase MACROD2 425 47.4 20 Nucleus 0 0 4 1 5 2007-09-11 O15047 SET1A_HUMAN SETD1A Histone-lysine N-methyltransferase SETD1A 1707 186 16 2.1.1.364 Nucleus speckle; Chromosome; Cytoplasm 0 2 Epilepsy, early-onset, 2, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies 4 1 5 2005-06-21 O43292 GPAA1_HUMAN GPAA1 GPI-anchor transamidase component GPAA1 621 67.6 8 Endoplasmic reticulum membrane 8 1 Glycosylphosphatidylinositol biosynthesis defect 15 4 1 5 2004-03-01 O60486 PLXC1_HUMAN PLXNC1 Plexin-C1 1568 175.7 12 Membrane 1 0 4 1 5 2006-04-18 O60504 VINEX_HUMAN SORBS3 Vinexin 671 75.3 8 Cell junction; Cytoplasm 0 0 4 1 5 2001-06-20 O75844 FACE1_HUMAN ZMPSTE24 CAAX prenyl protease 1 homolog 475 54.8 1 3.4.24.84 Endoplasmic reticulum membrane; Nucleus inner membrane; Early endosome membrane; Late endosome membrane 7 2 Mandibuloacral dysplasia with type B lipodystrophy; Restrictive dermopathy 1 4 1 5 1999-07-15 O76003 GLRX3_HUMAN GLRX3 Glutaredoxin-3 335 37.4 10 Cytoplasm 0 0 4 1 5 2003-09-26 O76061 STC2_HUMAN STC2 Stanniocalcin-2 302 33.2 5 Secreted 0 0 4 1 5 2000-05-30 O94813 SLIT2_HUMAN SLIT2 Slit homolog 2 protein 1529 169.9 4 Secreted 0 0 4 1 5 2003-07-19 O95376 ARI2_HUMAN ARIH2 E3 ubiquitin-protein ligase ARIH2 493 57.8 3 2.3.2.31 Nucleus; Cytoplasm 0 0 4 1 5 2001-09-26 O95747 OXSR1_HUMAN OXSR1 Serine/threonine-protein kinase OSR1 527 58 3 2.7.11.1 Cytoplasm 0 0 4 1 5 2005-08-16 P05062 ALDOB_HUMAN ALDOB Fructose-bisphosphate aldolase B 364 39.5 9 4.1.2.13 Cytoplasm 0 1 Hereditary fructose intolerance 4 1 5 1987-08-13 P06127 CD5_HUMAN CD5 T-cell surface glycoprotein CD5 495 54.6 11 Cell membrane 1 0 4 1 5 1988-01-01 P0C0L5 CO4B_HUMAN C4B Complement C4-B 1744 192.8 6 Secreted; Synapse; Cell projection 0 2 Systemic lupus erythematosus; Complement component 4B deficiency 4 1 5 1986-07-21 P0C7P3 SLN14_HUMAN SLFN14 Protein SLFN14 912 103.9 17 Nucleus 0 1 Bleeding disorder, platelet-type, 20 4 1 5 2008-07-01 P11234 RALB_HUMAN RALB Ras-related protein Ral-B 206 23.4 2 3.6.5.2 Cell membrane; Midbody 0 0 4 1 5 1989-07-01 P12755 SKI_HUMAN SKI Ski oncogene 728 80 1 Nucleus 0 1 Shprintzen-Goldberg craniosynostosis syndrome 4 1 5 1989-10-01 P15907 SIAT1_HUMAN ST6GAL1 Beta-galactoside alpha-2,6-sialyltransferase 1 406 46.6 3 2.4.3.1 Golgi apparatus; Secreted 1 0 4 1 5 1990-04-01 P16220 CREB1_HUMAN CREB1 Cyclic AMP-responsive element-binding protein 1 327 35.1 2 Nucleus 0 1 Angiomatoid fibrous histiocytoma 4 1 5 1990-04-01 P23435 CBLN1_HUMAN CBLN1 Cerebellin-1 193 21.1 16 Secreted; Postsynaptic cell membrane 0 0 4 1 5 1991-11-01 P23469 PTPRE_HUMAN PTPRE Receptor-type tyrosine-protein phosphatase epsilon 700 80.6 10 3.1.3.48 Cell membrane 1 0 4 1 5 1991-11-01 P29459 IL12A_HUMAN IL12A Interleukin-12 subunit alpha 219 24.9 3 Secreted 0 0 4 1 5 1993-04-01 P29692 EF1D_HUMAN EEF1D Elongation factor 1-delta 281 31.1 8 Nucleus 0 1 Neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language 4 1 5 1993-04-01 P30530 UFO_HUMAN AXL Tyrosine-protein kinase receptor UFO 894 98.3 19 2.7.10.1 Cell membrane 1 0 4 1 5 1993-04-01 P30872 SSR1_HUMAN SSTR1 Somatostatin receptor type 1 391 42.7 14 Cell membrane 7 0 4 1 5 1993-07-01 P31025 LCN1_HUMAN LCN1 Lipocalin-1 176 19.3 9 Secreted 0 0 4 1 5 1993-07-01 P34981 TRFR_HUMAN TRHR Thyrotropin-releasing hormone receptor 398 45.1 8 Cell membrane 7 1 Hypothyroidism, congenital, non-goitrous, 7 4 1 5 1994-02-01 P35070 BTC_HUMAN BTC Probetacellulin 178 19.7 4 Secreted 1 0 4 1 5 1994-02-01 P38570 ITAE_HUMAN ITGAE Integrin alpha-E 1179 130.2 17 Membrane 1 0 4 1 5 1994-10-01 P39905 GDNF_HUMAN GDNF Glial cell line-derived neurotrophic factor 211 23.7 5 Secreted 0 2 Hirschsprung disease 3; Pheochromocytoma 4 1 5 1995-02-01 P40198 CEAM3_HUMAN CEACAM3 Cell adhesion molecule CEACAM3 252 27.1 19 Membrane 1 0 4 1 5 1995-02-01 P43626 KI2L1_HUMAN KIR2DL1 Killer cell immunoglobulin-like receptor 2DL1 348 38.6 19 Cell membrane 1 0 4 1 5 1995-11-01 P47897 SYQ_HUMAN QARS1 Glutamine--tRNA ligase 775 87.8 3 6.1.1.18 Cytoplasm 0 1 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 4 1 5 1996-02-01 P48751 B3A3_HUMAN SLC4A3 Anion exchange protein 3 1232 135.8 2 Cell membrane 10 1 Short QT syndrome 7 4 1 5 1996-02-01 P50443 S26A2_HUMAN SLC26A2 Sulfate transporter 739 81.7 5 Cell membrane; Apical cell membrane 8 4 Diastrophic dysplasia; Achondrogenesis 1B; Atelosteogenesis 2; Multiple epiphyseal dysplasia 4 4 1 5 1996-10-01 P50616 TOB1_HUMAN TOB1 Protein Tob1 345 38.2 17 Cytoplasm; Nucleus 0 0 4 1 5 1996-10-01 P53778 MK12_HUMAN MAPK12 Mitogen-activated protein kinase 12 367 41.9 22 2.7.11.24 Cytoplasm; Nucleus; Mitochondrion 0 0 4 1 5 1996-10-01 P54753 EPHB3_HUMAN EPHB3 Ephrin type-B receptor 3 998 110.3 3 2.7.10.1 Cell membrane; Cell projection 1 0 4 1 5 1996-10-01 P54922 ADPRH_HUMAN ADPRH ADP-ribosylhydrolase ARH1 357 39.5 3 3.2.2.19 0 0 4 1 5 1996-10-01 P55064 AQP5_HUMAN AQP5 Aquaporin-5 265 28.3 12 Apical cell membrane; Cell membrane; Cytoplasmic vesicle membrane 6 1 Keratoderma, palmoplantar, Bothnian type 4 1 5 1996-10-01 P56182 RRP1_HUMAN RRP1 Ribosomal RNA processing protein 1 homolog A 461 52.8 21 Nucleus 0 0 4 1 5 1997-11-01 P56282 DPOE2_HUMAN POLE2 DNA polymerase epsilon subunit 2 527 59.5 14 Nucleus 0 0 4 1 5 1998-07-15 P62834 RAP1A_HUMAN RAP1A Ras-related protein Rap-1A 184 21 1 3.6.5.2 Cell membrane; Cytoplasm; Cell junction; Early endosome 0 0 4 1 5 2004-08-16 P62995 TRA2B_HUMAN TRA2B Transformer-2 protein homolog beta 288 33.7 3 Nucleus 0 1 Ramond-Elliott neurodevelopmental syndrome 4 1 5 2004-08-31 P63146 UBE2B_HUMAN UBE2B Ubiquitin-conjugating enzyme E2 B 152 17.3 5 2.3.2.23 Cell membrane; Nucleus 0 0 4 1 5 2004-09-27 P63241 IF5A1_HUMAN EIF5A Eukaryotic translation initiation factor 5A-1 154 16.8 17 Cytoplasm; Nucleus; Endoplasmic reticulum membrane 0 1 Faundes-Banka syndrome 4 1 5 2004-10-11 P69892 HBG2_HUMAN HBG2 Hemoglobin subunit gamma-2 147 16.1 11 0 1 Cyanosis transient neonatal 4 1 5 1986-07-21 Q00266 METK1_HUMAN MAT1A S-adenosylmethionine synthase isoform type-1 395 43.6 10 2.5.1.6 0 1 Methionine adenosyltransferase deficiency 4 1 5 1992-12-01 Q06330 SUH_HUMAN RBPJ Recombining binding protein suppressor of hairless 500 55.6 4 Nucleus; Cytoplasm 0 1 Adams-Oliver syndrome 3 4 1 5 1994-06-01 Q08AE8 SPIR1_HUMAN SPIRE1 Protein spire homolog 1 756 85.5 18 Cytoplasm; Cell membrane; Cytoplasmic vesicle membrane 0 0 4 1 5 2007-11-13 Q13033 STRN3_HUMAN STRN3 Striatin-3 797 87.2 14 Cytoplasm; Membrane 0 0 4 1 5 1998-07-15 Q13370 PDE3B_HUMAN PDE3B cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B 1112 124.3 11 3.1.4.17 Membrane 6 0 4 1 5 1998-07-15 Q13404 UB2V1_HUMAN UBE2V1 Ubiquitin-conjugating enzyme E2 variant 1 147 16.5 20 Nucleus 0 0 4 1 5 2004-08-31 Q13946 PDE7A_HUMAN PDE7A High affinity 3',5'-cyclic-AMP phosphodiesterase 7A 482 55.5 8 3.1.4.53 Cytoplasm 0 0 4 1 5 1998-07-15 Q14012 KCC1A_HUMAN CAMK1 Calcium/calmodulin-dependent protein kinase type 1 370 41.3 3 2.7.11.17 Cytoplasm; Nucleus 0 0 4 1 5 1998-07-15 Q14141 SEPT6_HUMAN SEPTIN6 Septin-6 434 49.7 X Cytoplasm; Chromosome; Cleavage furrow; Midbody; Cell projection 0 0 4 1 5 1997-11-01 Q14155 ARHG7_HUMAN ARHGEF7 Rho guanine nucleotide exchange factor 7 803 90 13 Cell junction; Cell projection; Cytoplasm 0 0 4 1 5 1997-11-01 Q14186 TFDP1_HUMAN TFDP1 Transcription factor Dp-1 410 45.1 13 Nucleus; Cytoplasm 0 0 4 1 5 1998-07-15 Q14393 GAS6_HUMAN GAS6 Growth arrest-specific protein 6 678 74.9 13 Secreted 0 0 4 1 5 2004-06-07 Q15018 ABRX2_HUMAN ABRAXAS2 BRISC complex subunit Abraxas 2 415 46.9 10 Cytoplasm; Nucleus 0 0 4 1 5 2005-12-20 Q15075 EEA1_HUMAN EEA1 Early endosome antigen 1 1411 162.5 12 Early endosome membrane; Cytoplasm 0 0 4 1 5 2003-08-22 Q15493 RGN_HUMAN RGN Regucalcin 299 33.3 X Cytoplasm 0 0 4 1 5 1998-07-15 Q15814 TBCC_HUMAN TBCC Tubulin-specific chaperone C 346 39.2 6 Cytoplasm 0 0 4 1 5 2000-05-30 Q4VC05 BCL7A_HUMAN BCL7A B-cell CLL/lymphoma 7 protein family member A 210 22.8 12 0 0 4 1 5 2006-06-13 Q53EZ4 CEP55_HUMAN CEP55 Centrosomal protein of 55 kDa 464 54.2 10 Cytoplasm; Cleavage furrow; Midbody 0 1 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 4 1 5 2005-07-19 Q53GT1 KLH22_HUMAN KLHL22 Kelch-like protein 22 634 71.7 22 Cytoplasm; Nucleus; Lysosome 0 0 4 1 5 2006-06-27 Q567U6 CCD93_HUMAN CCDC93 Coiled-coil domain-containing protein 93 631 73.2 2 Early endosome 0 0 4 1 5 2006-05-16 Q5FWF4 ZRAB3_HUMAN ZRANB3 DNA annealing helicase and endonuclease ZRANB3 1079 123.2 2 Nucleus; Chromosome 0 0 4 1 5 2007-02-20 Q5JST6 EFHC2_HUMAN EFHC2 EF-hand domain-containing family member C2 749 87.4 X Cytoplasm 0 0 4 1 5 2006-10-03 Q5W0Z9 ZDH20_HUMAN ZDHHC20 Palmitoyltransferase ZDHHC20 365 42.3 13 2.3.1.225 Golgi apparatus membrane; Cell membrane; Cytoplasm; Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane 4 0 4 1 5 2005-11-22 Q6IQ20 NAPEP_HUMAN NAPEPLD N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D 393 45.6 7 3.1.4.54 Golgi apparatus membrane; Early endosome membrane; Nucleus envelope; Nucleus 0 0 4 1 5 2008-02-05 Q6P0N0 M18BP_HUMAN MIS18BP1 Mis18-binding protein 1 1132 129.1 14 Nucleus; Chromosome 0 0 4 1 5 2005-06-21 Q6ZMH5 S39A5_HUMAN SLC39A5 Zinc transporter ZIP5 540 56.5 12 Basolateral cell membrane 6 1 Myopia 24, autosomal dominant 4 1 5 2006-01-24 Q6ZMJ4 IL34_HUMAN IL34 Interleukin-34 242 27.5 16 Secreted 0 0 4 1 5 2007-07-10 Q712K3 UB2R2_HUMAN UBE2R2 Ubiquitin-conjugating enzyme E2 R2 238 27.2 9 2.3.2.23 0 0 4 1 5 2007-03-20 Q7Z6G8 ANS1B_HUMAN ANKS1B Ankyrin repeat and sterile alpha motif domain-containing protein 1B 1248 138.1 12 Cytoplasm 0 0 4 1 5 2008-04-08 Q86YC2 PALB2_HUMAN PALB2 Partner and localizer of BRCA2 1186 131.3 16 Nucleus 0 4 Breast cancer; Fanconi anemia complementation group N; Pancreatic cancer 3; Breast-ovarian cancer, familial, 5 4 1 5 2006-10-17 Q8IUH3 RBM45_HUMAN RBM45 RNA-binding protein 45 476 53.5 2 Cytoplasm; Nucleus 0 0 4 1 5 2005-02-15 Q8IUN9 CLC10_HUMAN CLEC10A C-type lectin domain family 10 member A 316 35.4 17 Cell membrane; Early endosome membrane; Lysosome membrane 1 0 4 1 5 2005-02-15 Q8IWE5 PKHM2_HUMAN PLEKHM2 Pleckstrin homology domain-containing family M member 2 1019 112.8 1 Cytoplasm; Lysosome membrane 0 0 4 1 5 2007-11-13 Q8IYB7 DI3L2_HUMAN DIS3L2 DIS3-like exonuclease 2 885 99.3 2 3.1.13.- Cytoplasm 0 1 Perlman syndrome 4 1 5 2008-01-15 Q8N5F7 NKAP_HUMAN NKAP NF-kappa-B-activating protein 415 47.1 X Nucleus 0 1 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type 4 1 5 2006-10-31 Q8N5K1 CISD2_HUMAN CISD2 CDGSH iron-sulfur domain-containing protein 2 135 15.3 4 Endoplasmic reticulum membrane; Mitochondrion outer membrane 1 1 Wolfram syndrome 2 4 1 5 2008-01-15 Q8N960 CE120_HUMAN CEP120 Centrosomal protein of 120 kDa 986 112.6 5 Cytoplasm 0 2 Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31 4 1 5 2008-09-02 Q8NI27 THOC2_HUMAN THOC2 THO complex subunit 2 1593 182.8 X Nucleus; Nucleus speckle; Cytoplasm 0 2 Intellectual developmental disorder, X-linked, syndromic, Kumar type; Arthrogryposis multiplex congenita 7, X-linked 4 1 5 2003-10-10 Q8NI60 COQ8A_HUMAN COQ8A Atypical kinase COQ8A, mitochondrial 647 72 1 2.7.-.- Mitochondrion membrane 1 1 Coenzyme Q10 deficiency, primary, 4 4 1 5 2003-01-27 Q8TF46 DI3L1_HUMAN DIS3L DIS3-like exonuclease 1 1054 120.8 15 3.1.13.1 Cytoplasm 0 0 4 1 5 2008-01-15 Q8WVS4 DC2I1_HUMAN DYNC2I1 Cytoplasmic dynein 2 intermediate chain 1 1066 122.6 7 Cell projection; Cytoplasm 0 1 Short-rib thoracic dysplasia 8 with or without polydactyly 4 1 5 2006-06-27 Q96AT9 RPE_HUMAN RPE Ribulose-phosphate 3-epimerase 228 24.9 2 5.1.3.1 0 0 4 1 5 2003-09-19 Q96BN2 TADA1_HUMAN TADA1 Transcriptional adapter 1 335 37.4 1 Nucleus 0 0 4 1 5 2008-02-05 Q96CF2 CHM4C_HUMAN CHMP4C Charged multivesicular body protein 4c 233 26.4 8 Cytoplasm; Late endosome membrane; Midbody 0 0 4 1 5 2005-08-30 Q96DX5 ASB9_HUMAN ASB9 Ankyrin repeat and SOCS box protein 9 294 31.9 X Mitochondrion 0 0 4 1 5 2003-02-28 Q96EX3 DC2I2_HUMAN DYNC2I2 Cytoplasmic dynein 2 intermediate chain 2 536 57.8 9 Cytoplasm; Cell projection 0 1 Short-rib thoracic dysplasia 11 with or without polydactyly 4 1 5 2004-03-15 Q96I25 SPF45_HUMAN RBM17 Splicing factor 45 401 45 10 Nucleus 0 0 4 1 5 2003-09-19 Q96MK3 FA20A_HUMAN FAM20A Pseudokinase FAM20A 541 61.4 17 Secreted; Golgi apparatus; Endoplasmic reticulum 0 1 Amelogenesis imperfecta 1G 4 1 5 2003-09-19 Q96NI6 LRFN5_HUMAN LRFN5 Leucine-rich repeat and fibronectin type-III domain-containing protein 5 719 79.4 14 Membrane 1 0 4 1 5 2004-01-16 Q96S59 RANB9_HUMAN RANBP9 Ran-binding protein 9 729 77.8 6 Cytoplasm; Nucleus; Cell membrane 0 0 4 1 5 2005-03-15 Q96SN8 CK5P2_HUMAN CDK5RAP2 CDK5 regulatory subunit-associated protein 2 1893 215 9 Cytoplasm; Golgi apparatus 0 1 Microcephaly 3, primary, autosomal recessive 4 1 5 2003-06-16 Q96T58 MINT_HUMAN SPEN Msx2-interacting protein 3664 402.2 1 Nucleus 0 1 Radio-Tartaglia syndrome 4 1 5 2003-10-10 Q99571 P2RX4_HUMAN P2RX4 P2X purinoceptor 4 388 43.4 12 Cell membrane; Lysosome membrane 2 0 4 1 5 1997-11-01 Q99962 SH3G2_HUMAN SH3GL2 Endophilin-A1 352 40 9 Cytoplasm; Membrane; Early endosome; Presynapse 0 0 4 1 5 2000-12-01 Q99967 CITE2_HUMAN CITED2 Cbp/p300-interacting transactivator 2 270 28.5 6 Nucleus 0 2 Ventricular septal defect 2; Atrial septal defect 8 4 1 5 1998-12-15 Q9BSA4 TTYH2_HUMAN TTYH2 Protein tweety homolog 2 534 58.8 17 Cell membrane 5 0 4 1 5 2007-12-04 Q9BV47 DUS26_HUMAN DUSP26 Dual specificity protein phosphatase 26 211 23.9 8 3.1.3.16, 3.1.3.48 Cytoplasm; Nucleus; Golgi apparatus 0 0 4 1 5 2007-06-26 Q9BVJ6 UT14A_HUMAN UTP14A U3 small nucleolar RNA-associated protein 14 homolog A 771 88 X Nucleus 0 0 4 1 5 2005-07-05 Q9BW27 NUP85_HUMAN NUP85 Nuclear pore complex protein Nup85 656 75 17 Nucleus; Chromosome; Cytoplasm; Nucleus membrane 0 1 Nephrotic syndrome 17 4 1 5 2008-03-18 Q9BY11 PACN1_HUMAN PACSIN1 Protein kinase C and casein kinase substrate in neurons protein 1 444 51 6 Cytoplasm; Cell projection; Synapse; Membrane; Cytoplasmic vesicle membrane; Cell membrane 0 0 4 1 5 2002-08-13 Q9BZF1 OSBL8_HUMAN OSBPL8 Oxysterol-binding protein-related protein 8 889 101.2 12 Endoplasmic reticulum membrane; Nucleus membrane 1 0 4 1 5 2002-02-11 Q9GZQ3 COMD5_HUMAN COMMD5 COMM domain-containing protein 5 224 24.7 8 Cytoplasm; Nucleus 0 0 4 1 5 2004-08-16 Q9GZQ6 NPFF1_HUMAN NPFFR1 Neuropeptide FF receptor 1 430 47.8 10 Cell membrane 7 0 4 1 5 2001-04-27 Q9H0A0 NAT10_HUMAN NAT10 RNA cytidine acetyltransferase 1025 115.7 11 2.3.1.- Nucleus; Midbody 0 0 4 1 5 2002-06-06 Q9H3L0 MMAD_HUMAN MMADHC Cobalamin trafficking protein CblD 296 32.9 2 Cytoplasm; Mitochondrion 0 3 Methylmalonic aciduria and homocystinuria, cblD type; Homocystinuria-megaloblastic anemia, cblD type; Methylmalonic aciduria, cblD type 4 1 5 2005-07-05 Q9H808 TLE6_HUMAN TLE6 Transducin-like enhancer protein 6 572 63.5 19 Cytoplasm; Nucleus 0 1 Oocyte/zygote/embryo maturation arrest 15 4 1 5 2005-04-26 Q9H9T3 ELP3_HUMAN ELP3 Elongator complex protein 3 547 62.3 8 2.3.1.311 Cytoplasm; Nucleus 0 1 Amyotrophic lateral sclerosis 4 1 5 2007-04-17 Q9HCB6 SPON1_HUMAN SPON1 Spondin-1 807 91 11 Secreted 0 0 4 1 5 2004-09-27 Q9HCJ0 TNR6C_HUMAN TNRC6C Trinucleotide repeat-containing gene 6C protein 1936 201.8 17 0 0 4 1 5 2007-02-20 Q9NQS5 GPR84_HUMAN GPR84 G protein-coupled receptor 84 396 43.7 12 Cell membrane 7 0 4 1 5 2005-05-24 Q9NRD5 PICK1_HUMAN PICK1 PRKCA-binding protein 415 46.6 22 Cytoplasm; Membrane; Postsynaptic density; Synapse 0 0 4 1 5 2002-08-02 Q9NRM6 I17RB_HUMAN IL17RB Interleukin-17 receptor B 502 55.9 3 Cell membrane 1 0 4 1 5 2002-05-27 Q9NRZ9 HELLS_HUMAN HELLS Lymphoid-specific helicase 838 97.1 10 3.6.4.- Nucleus; Chromosome 0 1 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 4 1 5 2006-11-28 Q9NXF1 TEX10_HUMAN TEX10 Testis-expressed protein 10 929 105.7 9 Nucleus; Cytoplasm 0 0 4 1 5 2005-07-19 Q9NXR7 BABA2_HUMAN BABAM2 BRISC and BRCA1-A complex member 2 383 43.6 2 Cytoplasm; Nucleus 0 0 4 1 5 2006-02-21 Q9P0X4 CAC1I_HUMAN CACNA1I Voltage-dependent T-type calcium channel subunit alpha-1I 2223 245.1 22 Membrane 24 1 Neurodevelopmental disorder with speech impairment and with or without seizures 4 1 5 2002-09-19 Q9UBQ7 GRHPR_HUMAN GRHPR Glyoxylate reductase/hydroxypyruvate reductase 328 35.7 9 1.1.1.79, 1.1.1.81 0 1 Hyperoxaluria primary 2 4 1 5 2004-05-10 Q9UH03 SEPT3_HUMAN SEPTIN3 Neuronal-specific septin-3 358 40.7 22 Cytoplasm; Synapse 0 0 4 1 5 2001-02-21 Q9UHI5 LAT2_HUMAN SLC7A8 Large neutral amino acids transporter small subunit 2 535 58.4 14 Cell membrane; Basolateral cell membrane 12 0 4 1 5 2001-01-24 Q9UJV3 TRIM1_HUMAN MID2 E3 ubiquitin-protein ligase MID2 735 83.2 X 2.3.2.27 Cytoplasm 0 1 Intellectual developmental disorder, X-linked 101 4 1 5 2003-11-28 Q9UK39 NOCT_HUMAN NOCT Nocturnin 431 48.2 4 3.1.3.108 Cytoplasm; Nucleus; Mitochondrion 0 0 4 1 5 2001-11-02 Q9UKL3 C8AP2_HUMAN CASP8AP2 CASP8-associated protein 2 1982 222.7 Cytoplasm; Nucleus; Mitochondrion 0 0 4 1 5 2005-12-20 Q9UKL6 PPCT_HUMAN PCTP Phosphatidylcholine transfer protein 214 24.8 17 Cytoplasm 0 0 4 1 5 2001-08-14 Q9UL19 PLAT4_HUMAN PLAAT4 Phospholipase A and acyltransferase 4 164 18.2 11 2.3.1.-, 3.1.1.32, 3.1.1.4 Membrane 1 0 4 1 5 2002-01-31 Q9ULC4 MCTS1_HUMAN MCTS1 Malignant T-cell-amplified sequence 1 181 20.6 X Cytoplasm 0 1 Immunodeficiency 118 4 1 5 2008-07-22 Q9ULV0 MYO5B_HUMAN MYO5B Unconventional myosin-Vb 1848 213.7 18 Cytoplasm 0 2 Diarrhea 2, with microvillus atrophy, with or without cholestasis; Cholestasis, progressive familial intrahepatic, 10 4 1 5 2001-04-27 Q9Y624 JAM1_HUMAN F11R Junctional adhesion molecule A 299 32.6 1 Cell junction; Cell membrane 1 0 4 1 5 2000-12-01 O00141 SGK1_HUMAN SGK1 Serine/threonine-protein kinase Sgk1 431 48.9 6 2.7.11.1 Cytoplasm; Nucleus; Endoplasmic reticulum membrane; Cell membrane; Mitochondrion 0 0 4 1 5 1998-12-15 O14649 KCNK3_HUMAN KCNK3 Potassium channel subfamily K member 3 394 43.5 2 Cell membrane 4 2 Pulmonary hypertension, primary, 4; Developmental delay with sleep apnea 4 1 5 2001-02-21 O14931 NCTR3_HUMAN NCR3 Natural cytotoxicity triggering receptor 3 201 21.6 6 Cell membrane 1 0 4 1 5 2004-05-24 O14972 VP26C_HUMAN VPS26C Vacuolar protein sorting-associated protein 26C 297 33 21 Endosome 0 0 4 1 5 1998-07-15 O15055 PER2_HUMAN PER2 Period circadian protein homolog 2 1255 136.6 2 Nucleus; Cytoplasm 0 1 Advanced sleep phase syndrome, familial, 1 4 1 5 1999-07-15 O15146 MUSK_HUMAN MUSK Muscle, skeletal receptor tyrosine-protein kinase 869 97.1 9 2.7.10.1 Postsynaptic cell membrane 1 2 Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence 1 4 1 5 2004-07-19 O43918 AIRE_HUMAN AIRE Autoimmune regulator 545 57.7 21 Nucleus; Cytoplasm 0 1 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia 4 1 5 1998-07-15 O75150 BRE1B_HUMAN RNF40 E3 ubiquitin-protein ligase BRE1B 1001 113.7 16 2.3.2.27 Nucleus 0 0 4 1 5 2005-12-20 O75381 PEX14_HUMAN PEX14 Peroxisomal membrane protein PEX14 377 41.2 1 Peroxisome membrane 1 2 Peroxisome biogenesis disorder complementation group K; Peroxisome biogenesis disorder 13A 4 1 5 2000-05-30 O75529 TAF5L_HUMAN TAF5L TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L 589 66.2 1 Nucleus 0 0 4 1 5 2004-04-26 O75891 AL1L1_HUMAN ALDH1L1 Cytosolic 10-formyltetrahydrofolate dehydrogenase 902 98.8 3 1.5.1.6 Cytoplasm 0 0 4 1 5 2000-05-30 O75962 TRIO_HUMAN TRIO Triple functional domain protein 3097 346.9 5 2.7.11.1 Cytoplasm; Cell projection 0 2 Intellectual developmental disorder, autosomal dominant 44, with microcephaly; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 4 1 5 2000-12-01 O76054 S14L2_HUMAN SEC14L2 SEC14-like protein 2 403 46.1 22 Cytoplasm; Nucleus 0 0 4 1 5 2002-06-20 O94905 ERLN2_HUMAN ERLIN2 Erlin-2 339 37.8 8 Endoplasmic reticulum membrane 1 2 Spastic paraplegia 18B, autosomal recessive; Spastic paraplegia 18A, autosomal dominant 4 1 5 2003-10-31 P00403 COX2_HUMAN MT-CO2 Cytochrome c oxidase subunit 2 227 25.6 MT 7.1.1.9 Mitochondrion inner membrane 2 1 Mitochondrial complex IV deficiency 4 1 5 1986-07-21 P00450 CERU_HUMAN CP Ceruloplasmin 1065 122.2 3 Secreted 0 1 Aceruloplasminemia 4 1 5 1986-07-21 P01350 GAST_HUMAN GAST Gastrin 101 11.4 17 Secreted 0 0 4 1 5 1986-07-21 P01721 LV657_HUMAN IGLV6-57 Immunoglobulin lambda variable 6-57 117 12.6 22 Secreted; Cell membrane 0 0 4 1 5 1986-07-21 P01772 HV333_HUMAN IGHV3-33 Immunoglobulin heavy variable 3-33 117 13.1 14 Secreted; Cell membrane 0 0 4 1 5 1986-07-21 P02655 APOC2_HUMAN APOC2 Apolipoprotein C-II 101 11.3 19 Secreted 0 1 Hyperlipoproteinemia 1B 4 1 5 1986-07-21 P04279 SEMG1_HUMAN SEMG1 Semenogelin-1 462 52.1 20 Secreted 0 0 4 1 5 1987-03-20 P05154 IPSP_HUMAN SERPINA5 Plasma serine protease inhibitor 406 45.7 14 Secreted 0 0 4 1 5 1987-08-13 P09486 SPRC_HUMAN SPARC SPARC 303 34.6 5 Secreted 0 1 Osteogenesis imperfecta 17 4 1 5 1989-07-01 P0CG30 GSTT2_HUMAN GSTT2B Glutathione S-transferase theta-2B 244 27.5 22 2.5.1.18 Cytoplasm 0 0 4 1 5 2010-07-13 P11047 LAMC1_HUMAN LAMC1 Laminin subunit gamma-1 1609 177.6 1 Secreted 0 0 4 1 5 1989-07-01 P13796 PLSL_HUMAN LCP1 Plastin-2 627 70.3 13 Cytoplasm; Cell junction; Cell projection 0 0 4 1 5 1990-01-01 P13804 ETFA_HUMAN ETFA Electron transfer flavoprotein subunit alpha, mitochondrial 333 35.1 15 Mitochondrion matrix 0 1 Glutaric aciduria 2A 4 1 5 1990-01-01 P14625 ENPL_HUMAN HSP90B1 Endoplasmin 803 92.5 12 3.6.4.- Endoplasmic reticulum lumen; Sarcoplasmic reticulum lumen; Melanosome 0 0 4 1 5 1990-04-01 P15153 RAC2_HUMAN RAC2 Ras-related C3 botulinum toxin substrate 2 192 21.4 22 3.6.5.2 Cytoplasm 0 3 Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis; Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia; Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia 4 1 5 1990-04-01 P15924 DESP_HUMAN DSP Desmoplakin 2871 331.8 6 Cell projection; Cell junction; Cell membrane; Cytoplasm; Nucleus 0 6 Keratoderma, palmoplantar, striate 2; Cardiomyopathy, dilated, with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia, familial, 8; Epidermolysis bullosa, lethal acantholytic; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 4 1 5 1990-04-01 P16219 ACADS_HUMAN ACADS Short-chain specific acyl-CoA dehydrogenase, mitochondrial 412 44.3 12 1.3.8.1 Mitochondrion matrix 0 1 Acyl-CoA dehydrogenase short-chain deficiency 4 1 5 1990-04-01 P17342 ANPRC_HUMAN NPR3 Atrial natriuretic peptide receptor 3 541 59.8 5 Cell membrane 1 1 Boudin-Mortier syndrome 4 1 5 1990-08-01 P19883 FST_HUMAN FST Follistatin 344 38 5 Secreted; Nucleus 0 0 4 1 5 1991-02-01 P20718 GRAH_HUMAN GZMH Granzyme H 246 27.3 14 3.4.21.- Cytolytic granule 0 0 4 1 5 1991-02-01 P33240 CSTF2_HUMAN CSTF2 Cleavage stimulation factor subunit 2 577 61 X Nucleus 0 1 Intellectual developmental disorder, X-linked 113 4 1 5 1994-02-01 P35716 SOX11_HUMAN SOX11 Transcription factor SOX-11 441 46.7 2 Nucleus 0 1 Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 4 1 5 1994-06-01 P40933 IL15_HUMAN IL15 Interleukin-15 162 18.1 4 Secreted 0 0 4 1 5 1995-02-01 P41220 RGS2_HUMAN RGS2 Regulator of G protein signaling 2 211 24.4 1 Cell membrane; Cytoplasm; Nucleus 0 0 4 1 5 1995-02-01 P42127 ASIP_HUMAN ASIP Agouti-signaling protein 132 14.5 20 Secreted 0 1 Obesity and hypopigmentation 4 1 5 1995-11-01 P43115 PE2R3_HUMAN PTGER3 Prostaglandin E2 receptor EP3 subtype 390 43.3 1 Cell membrane 7 0 4 1 5 1995-11-01 P46095 GPR6_HUMAN GPR6 G protein-coupled receptor 6 362 37.9 6 Cell membrane 7 0 4 1 5 1995-11-01 P49675 STAR_HUMAN STAR Steroidogenic acute regulatory protein, mitochondrial 285 31.9 8 Mitochondrion outer membrane; Mitochondrion matrix 0 1 Adrenal hyperplasia 1 4 1 5 1996-02-01 P49914 MTHFS_HUMAN MTHFS 5-formyltetrahydrofolate cyclo-ligase 203 23.3 15 6.3.3.2 Cytoplasm 0 1 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 4 1 5 1996-10-01 P52209 6PGD_HUMAN PGD 6-phosphogluconate dehydrogenase, decarboxylating 483 53.1 1 1.1.1.44 Cytoplasm 0 0 4 1 5 1996-10-01 P56279 TCL1A_HUMAN TCL1A T-cell leukemia/lymphoma protein 1A 114 13.5 14 Cytoplasm; Nucleus; Microsome; Endoplasmic reticulum 0 0 4 1 5 1998-07-15 P56704 WNT3A_HUMAN WNT3A Protein Wnt-3a 352 39.4 1 Secreted 0 0 4 1 5 1999-07-15 P57772 SELB_HUMAN EEFSEC Selenocysteine-specific elongation factor 596 65.3 3 3.6.5.- Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with progressive spasticity and brain abnormalities 4 1 5 2001-02-21 P58743 S26A5_HUMAN SLC26A5 Prestin 744 81.3 7 Lateral cell membrane 14 1 Deafness, autosomal recessive, 61 4 1 5 2002-03-27 P61026 RAB10_HUMAN RAB10 Ras-related protein Rab-10 200 22.5 2 3.6.5.2 Cytoplasmic vesicle membrane; Golgi apparatus membrane; Golgi apparatus; Endosome membrane; Recycling endosome membrane; Cytoplasmic vesicle; Cytoplasm; Endoplasmic reticulum membrane; Lysosome 0 0 4 1 5 2004-04-26 P78344 IF4G2_HUMAN EIF4G2 Eukaryotic translation initiation factor 4 gamma 2 907 102.4 11 0 0 4 1 5 2003-04-30 P78347 GTF2I_HUMAN GTF2I General transcription factor II-I 998 112.4 7 Cytoplasm; Nucleus 0 0 4 1 5 2001-12-13 P78552 I13R1_HUMAN IL13RA1 Interleukin-13 receptor subunit alpha-1 427 48.8 X Membrane 1 0 4 1 5 1997-11-01 P81605 DCD_HUMAN DCD Dermcidin 110 11.3 12 3.4.-.- Secreted 1 0 4 1 5 1999-07-15 Q00577 PURA_HUMAN PURA Transcriptional activator protein Pur-alpha 322 34.9 5 Nucleus 0 1 Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties 4 1 5 1995-11-01 Q01130 SRSF2_HUMAN SRSF2 Serine/arginine-rich splicing factor 2 221 25.5 17 Nucleus; Nucleus speckle 0 0 4 1 5 1993-04-01 Q07021 C1QBP_HUMAN C1QBP Complement component 1 Q subcomponent-binding protein, mitochondrial 282 31.4 17 Mitochondrion matrix; Nucleus; Cell membrane; Secreted; Cytoplasm 0 1 Combined oxidative phosphorylation deficiency 33 4 1 5 1995-02-01 Q07866 KLC1_HUMAN KLC1 Kinesin light chain 1 573 65.3 14 Cell projection; Cytoplasmic vesicle; Cytoplasm 0 0 4 1 5 1994-10-01 Q08174 PCDH1_HUMAN PCDH1 Protocadherin-1 1060 114.7 5 Cell junction; Cell membrane 1 0 4 1 5 2002-10-19 Q08379 GOGA2_HUMAN GOLGA2 Golgin subfamily A member 2 1002 113.1 9 Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cytoplasm 0 1 Developmental delay with hypotonia, myopathy, and brain abnormalities 4 1 5 1997-11-01 Q12884 SEPR_HUMAN FAP Prolyl endopeptidase FAP 760 87.7 2 3.4.21.26 Cell surface; Cell membrane; Cell projection; Membrane 1 0 4 1 5 2002-03-05 Q13554 KCC2B_HUMAN CAMK2B Calcium/calmodulin-dependent protein kinase type II subunit beta 666 72.7 7 2.7.11.17 Cytoplasm; Sarcoplasmic reticulum membrane; Synapse 0 1 Intellectual developmental disorder, autosomal dominant 54 4 1 5 1997-11-01 Q13639 5HT4R_HUMAN HTR4 5-hydroxytryptamine receptor 4 388 43.8 5 Cell membrane; Endosome membrane 7 0 4 1 5 1997-11-01 Q13642 FHL1_HUMAN FHL1 Four and a half LIM domains protein 1 323 36.3 X Cytoplasm 0 6 Emery-Dreifuss muscular dystrophy 6, X-linked; Scapuloperoneal myopathy, X-linked dominant; Myopathy, X-linked, with postural muscle atrophy; Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset; Reducing body myopathy, X-linked 1B, with late childhood or adult onset; Uruguay faciocardiomusculoskeletal syndrome 4 1 5 1997-11-01 Q13950 RUNX2_HUMAN RUNX2 Runt-related transcription factor 2 521 56.6 6 Nucleus; Cytoplasm 0 2 Cleidocranial dysplasia 1; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 4 1 5 2001-11-02 Q14195 DPYL3_HUMAN DPYSL3 Dihydropyrimidinase-related protein 3 570 62 5 Cytoplasm; Cell projection 0 0 4 1 5 1998-07-15 Q15121 PEA15_HUMAN PEA15 Astrocytic phosphoprotein PEA-15 130 15 1 Cytoplasm 0 0 4 1 5 1997-11-01 Q15759 MK11_HUMAN MAPK11 Mitogen-activated protein kinase 11 364 41.4 22 2.7.11.24 Cytoplasm; Nucleus 0 0 4 1 5 1997-11-01 Q15831 STK11_HUMAN STK11 Serine/threonine-protein kinase STK11 433 48.6 19 2.7.11.1 Nucleus; Cytoplasm; Membrane; Mitochondrion; Late endosome 0 2 Peutz-Jeghers syndrome; Testicular germ cell tumor 4 1 5 1998-07-15 Q16820 MEP1B_HUMAN MEP1B Meprin A subunit beta 701 79.6 18 3.4.24.63 Cell membrane; Secreted 1 0 4 1 5 1997-11-01 Q38SD2 LRRK1_HUMAN LRRK1 Leucine-rich repeat serine/threonine-protein kinase 1 2015 225.4 15 2.7.11.1 Cytoplasm; Cell membrane 0 1 Osteosclerotic metaphyseal dysplasia 4 1 5 2006-05-02 Q58EX2 SDK2_HUMAN SDK2 Protein sidekick-2 2172 239.4 17 Cell membrane; Synapse 1 0 4 1 5 2006-03-07 Q5MJ70 SPDYA_HUMAN SPDYA Speedy protein A 313 36.5 2 Nucleus 0 0 4 1 5 2006-05-02 Q5VVY1 NTM1B_HUMAN NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 283 32.4 1 2.1.1.299 Nucleus 0 0 4 1 5 2007-01-09 Q6N022 TEN4_HUMAN TENM4 Teneurin-4 2769 308 11 Cell membrane; Cell projection; Nucleus; Cytoplasm 1 1 Tremor, hereditary essential 5 4 1 5 2006-10-31 Q6SPF0 SAMD1_HUMAN SAMD1 Sterile alpha motif domain-containing protein 1 538 56.1 Nucleus; Chromosome; Secreted 0 0 4 1 5 2007-03-06 Q6UXV0 GFRAL_HUMAN GFRAL GDNF family receptor alpha-like 394 44.5 6 Cell membrane 1 0 4 1 5 2006-06-13 Q7Z5Q5 DPOLN_HUMAN POLN DNA polymerase nu 900 100.3 4 2.7.7.7 Nucleus 0 0 4 1 5 2006-03-21 Q86V81 THOC4_HUMAN ALYREF THO complex subunit 4 257 26.9 Nucleus; Nucleus speckle; Cytoplasm 0 0 4 1 5 2003-10-10 Q8IV16 HDBP1_HUMAN GPIHBP1 Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 184 19.9 8 Apical cell membrane; Basolateral cell membrane; Cell membrane 0 1 Hyperlipoproteinemia 1D 4 1 5 2008-02-05 Q8IYH5 ZZZ3_HUMAN ZZZ3 ZZ-type zinc finger-containing protein 3 903 102 1 Nucleus 0 0 4 1 5 2007-05-15 Q8IYS1 P20D2_HUMAN PM20D2 Xaa-Arg dipeptidase 436 47.8 6 3.4.13.4 0 0 4 1 5 2007-05-01 Q8N0Z6 TTC5_HUMAN TTC5 Tetratricopeptide repeat protein 5 440 48.9 14 Nucleus; Cytoplasm; Cytoplasmic vesicle; Mitochondrion matrix 0 1 Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 4 1 5 2005-06-07 Q8N4Q1 MIA40_HUMAN CHCHD4 Mitochondrial intermembrane space import and assembly protein 40 142 16 3 Mitochondrion intermembrane space 0 0 4 1 5 2005-04-12 Q8N9N5 BANP_HUMAN BANP Protein BANP 519 56.5 16 Nucleus; Nucleus speckle; Cytoplasm 0 0 4 1 5 2007-08-21 Q8NBZ7 UXS1_HUMAN UXS1 UDP-glucuronic acid decarboxylase 1 420 47.6 2 4.1.1.35 Golgi apparatus; Endoplasmic reticulum membrane 1 0 4 1 5 2005-12-20 Q8NHM5 KDM2B_HUMAN KDM2B Lysine-specific demethylase 2B 1336 152.6 12 1.14.11.27 Nucleus; Chromosome 0 1 Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities 4 1 5 2004-08-16 Q8TDY4 ASAP3_HUMAN ASAP3 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 903 99.2 1 Cytoplasm 0 0 4 1 5 2006-04-18 Q8TED4 G6PT3_HUMAN SLC37A2 Glucose-6-phosphate exchanger SLC37A2 501 54.4 11 Endoplasmic reticulum membrane 12 0 4 1 5 2007-10-23 Q8TEX9 IPO4_HUMAN IPO4 Importin-4 1081 118.7 14 Cytoplasm; Nucleus 0 0 4 1 5 2004-02-02 Q8WTT2 NOC3L_HUMAN NOC3L Nucleolar complex protein 3 homolog 800 92.5 10 Nucleus; Nucleus speckle 0 0 4 1 5 2005-09-27 Q92572 AP3S1_HUMAN AP3S1 AP-3 complex subunit sigma-1 193 21.7 5 Golgi apparatus; Cytoplasmic vesicle membrane 0 0 4 1 5 2003-07-19 Q92643 GPI8_HUMAN PIGK GPI-anchor transamidase 395 45.3 1 2.6.1.- Endoplasmic reticulum membrane 1 1 Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 4 1 5 2002-07-11 Q92688 AN32B_HUMAN ANP32B Acidic leucine-rich nuclear phosphoprotein 32 family member B 251 28.8 9 Nucleus; Cytoplasm 0 0 4 1 5 2002-12-06 Q96BY6 DOC10_HUMAN DOCK10 Dedicator of cytokinesis protein 10 2186 249.5 2 Nucleus; Cytoplasm; Cell projection 0 0 4 1 5 2003-07-03 Q96FL8 S47A1_HUMAN SLC47A1 Multidrug and toxin extrusion protein 1 570 61.9 17 Cell membrane; Apical cell membrane 13 0 4 1 5 2007-12-04 Q96KK5 H2A1H_HUMAN H2AC12 Histone H2A type 1-H 128 13.9 6 Nucleus; Chromosome 0 0 4 1 5 2006-04-04 Q96L73 NSD1_HUMAN NSD1 Histone-lysine N-methyltransferase, H3 lysine-36 specific 2696 296.7 5 2.1.1.357 Nucleus; Chromosome 0 2 Sotos syndrome; Beckwith-Wiedemann syndrome 4 1 5 2003-07-03 Q96NW4 ANR27_HUMAN ANKRD27 Ankyrin repeat domain-containing protein 27 1050 117 19 Early endosome; Late endosome; Cytoplasmic vesicle membrane; Lysosome; Cell membrane; Melanosome 0 0 4 1 5 2007-02-06 Q96PM5 ZN363_HUMAN RCHY1 RING finger and CHY zinc finger domain-containing protein 1 261 30.1 4 2.3.2.27 Nucleus; Nucleus speckle; Cytoplasm 0 0 4 1 5 2003-02-28 Q96Q83 ALKB3_HUMAN ALKBH3 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3 286 33.4 11 1.14.11.33, 1.14.11.54 Nucleus; Cytoplasm 0 0 4 1 5 2006-05-30 Q99708 CTIP_HUMAN RBBP8 DNA endonuclease RBBP8 897 101.9 18 3.1.-.- Nucleus; Chromosome 0 2 Seckel syndrome 2; Jawad syndrome 4 1 5 2000-12-01 Q99788 CML1_HUMAN CMKLR1 Chemerin-like receptor 1 373 42.3 12 Cell membrane 7 0 4 1 5 1998-07-15 Q9BSM1 PCGF1_HUMAN PCGF1 Polycomb group RING finger protein 1 259 30.3 2 Nucleus 0 0 4 1 5 2007-02-20 Q9BUL9 RPP25_HUMAN RPP25 Ribonuclease P protein subunit p25 199 20.6 15 Nucleus 0 0 4 1 5 2006-05-30 Q9BWV3 CDAC1_HUMAN CDADC1 dCTP deaminase 514 58.5 13 3.5.4.13 Cytoplasm; Nucleus 0 0 4 1 5 2007-09-11 Q9BZ29 DOCK9_HUMAN DOCK9 Dedicator of cytokinesis protein 9 2069 236.4 13 Endomembrane system 0 0 4 1 5 2002-10-19 Q9BZD4 NUF2_HUMAN NUF2 Kinetochore protein Nuf2 464 54.3 1 Nucleus; Chromosome 0 0 4 1 5 2006-09-19 Q9H074 PAIP1_HUMAN PAIP1 Polyadenylate-binding protein-interacting protein 1 479 53.5 5 Cytoplasm 0 0 4 1 5 2004-04-13 Q9H081 MIS12_HUMAN MIS12 Protein MIS12 homolog 205 24.1 17 Chromosome 0 0 4 1 5 2006-09-05 Q9H7D7 WDR26_HUMAN WDR26 WD repeat-containing protein 26 661 72.1 1 Cytoplasm; Nucleus; Mitochondrion 0 1 Skraban-Deardorff syndrome 4 1 5 2004-05-24 Q9H867 MT21D_HUMAN VCPKMT Protein N-lysine methyltransferase METTL21D 229 25.8 14 2.1.1.- Cytoplasm 0 0 4 1 5 2003-11-07 Q9HBD1 RC3H2_HUMAN RC3H2 Roquin-2 1191 131.7 9 2.3.2.27 Cytoplasm 0 0 4 1 5 2005-08-16 Q9HCC9 LST2_HUMAN ZFYVE28 Lateral signaling target protein 2 homolog 887 96.5 4 Cytoplasm; Early endosome membrane 0 0 4 1 5 2004-04-13 Q9HD20 AT131_HUMAN ATP13A1 Endoplasmic reticulum transmembrane helix translocase 1204 133 19 7.4.2.- Endoplasmic reticulum membrane 10 0 4 1 5 2001-10-18 Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II subunit A C-terminal domain phosphatase SSU72 194 22.6 1 3.1.3.16 Nucleus; Cytoplasm 0 0 4 1 5 2008-04-29 Q9NQT8 KI13B_HUMAN KIF13B Kinesin-like protein KIF13B 1826 202.8 8 Cytoplasm; Cell projection 0 0 4 1 5 2002-09-19 Q9NUY8 TBC23_HUMAN TBC1D23 TBC1 domain family member 23 699 78.3 3 Golgi apparatus; Cytoplasmic vesicle 0 1 Pontocerebellar hypoplasia 11 4 1 5 2007-05-15 Q9NWB1 RFOX1_HUMAN RBFOX1 RNA binding protein fox-1 homolog 1 397 42.8 16 Nucleus; Cytoplasm 0 0 4 1 5 2000-12-01 Q9NZN5 ARHGC_HUMAN ARHGEF12 Rho guanine nucleotide exchange factor 12 1544 173.2 11 Cytoplasm; Membrane 0 0 4 1 5 2003-08-29 Q9P1T7 MDFIC_HUMAN MDFIC MyoD family inhibitor domain-containing protein 246 25.8 7 Nucleus 0 1 Lymphatic malformation 12 4 1 5 2007-03-20 Q9P2L0 WDR35_HUMAN WDR35 WD repeat-containing protein 35 1181 133.5 2 Cytoplasm 0 3 Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly; Short-rib thoracic dysplasia 7/20 with polydactyly, digenic 4 1 5 2004-03-29 Q9UMF0 ICAM5_HUMAN ICAM5 Intercellular adhesion molecule 5 924 97.1 19 Cell membrane; Cell projection 1 0 4 1 5 2001-10-18 Q9UNF0 PACN2_HUMAN PACSIN2 Protein kinase C and casein kinase substrate in neurons protein 2 486 55.7 22 Cytoplasm; Cytoplasmic vesicle membrane; Cell projection; Early endosome; Recycling endosome membrane; Cell membrane; Membrane; Cell junction 0 0 4 1 5 2002-08-13 Q9Y6J9 TAF6L_HUMAN TAF6L TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L 622 67.8 11 Nucleus 0 0 4 1 5 2004-04-26 O15034 RIMB2_HUMAN RIMBP2 RIMS-binding protein 2 1052 116 12 Cell membrane; Synapse 0 0 4 1 4 2004-01-16 O75683 SURF6_HUMAN SURF6 Surfeit locus protein 6 361 41.5 9 Nucleus 0 0 4 1 4 1999-07-15 P0DKB6 MPC1L_HUMAN MPC1L Mitochondrial pyruvate carrier 1-like protein 136 15.1 X Mitochondrion inner membrane 2 0 4 1 4 2012-10-03 Q6ZS72 PEAK3_HUMAN PEAK3 Protein PEAK3 473 50.5 19 0 0 4 1 4 2007-02-20 Q8TDU9 RL3R2_HUMAN RXFP4 Relaxin-3 receptor 2 374 41.1 1 Cell membrane 7 0 4 1 4 2003-11-07 Q8WX77 IBPL1_HUMAN IGFBPL1 Insulin-like growth factor-binding protein-like 1 278 29 9 Secreted 0 0 4 1 4 2007-08-21 Q9BTM1 H2AJ_HUMAN H2AJ Histone H2A.J 129 14 12 Nucleus; Chromosome 0 0 4 1 4 2008-07-22 P22090 RS4Y1_HUMAN RPS4Y1 Small ribosomal subunit protein eS4, Y isoform 1 263 29.5 Y 0 0 4 1 4 1991-08-01 Q8IY67 RAVR1_HUMAN RAVER1 Ribonucleoprotein PTB-binding 1 606 63.9 19 Nucleus; Cytoplasm 0 0 4 1 4 2006-01-24 Q9BT73 PSMG3_HUMAN PSMG3 Proteasome assembly chaperone 3 122 13.1 7 0 0 4 1 4 2007-01-09 Q9UKZ1 CNO11_HUMAN CNOT11 CCR4-NOT transcription complex subunit 11 510 55.2 2 Cytoplasm; Nucleus 0 0 4 1 4 2005-07-19 Q9BRQ0 PYGO2_HUMAN PYGO2 Pygopus homolog 2 406 41.2 1 Nucleus 0 0 4 1 4 2002-09-19 Q9Y689 ARL5A_HUMAN ARL5A ADP-ribosylation factor-like protein 5A 179 20.7 2 0 0 4 1 4 2000-12-01 P81277 PRRP_HUMAN PRLH Prolactin-releasing peptide 87 9.6 2 Secreted 0 0 4 1 4 2000-05-30 Q8NHR7 TERB2_HUMAN TERB2 Telomere repeats-binding bouquet formation protein 2 220 25.3 15 Chromosome; Nucleus inner membrane 0 1 Spermatogenic failure 59 4 1 4 2006-12-12 Q8WXE0 CSKI2_HUMAN CASKIN2 Caskin-2 1202 126.8 17 Cytoplasm 0 0 4 1 4 2005-03-15 Q9H9Y2 RPF1_HUMAN RPF1 Ribosome production factor 1 349 40.1 1 Nucleus 0 0 4 1 4 2005-07-19 P63145 GAK24_HUMAN ERVK-24 Endogenous retrovirus group K member 24 Gag polyprotein 666 74 Cell membrane 0 0 4 1 4 2004-09-13 Q7Z4H3 HDDC2_HUMAN HDDC2 5'-deoxynucleotidase HDDC2 204 23.4 6 3.1.3.89 0 0 4 1 4 2007-12-04 Q8N998 CCD89_HUMAN CCDC89 Coiled-coil domain-containing protein 89 374 43.8 11 Cytoplasm; Nucleus 0 0 4 1 3 2007-01-09 A0JD36 TRDV2_HUMAN TRDV2 T cell receptor delta variable 2 115 12.9 14 Cell membrane 0 0 4 1 3 2018-12-05 Q14549 GBX1_HUMAN GBX1 Homeobox protein GBX-1 363 37.6 7 Nucleus 0 0 4 1 3 2001-01-11 Q9BXY0 MAK16_HUMAN MAK16 Protein MAK16 homolog 300 35.4 8 Nucleus 0 0 4 1 3 2005-07-19 Q9Y343 SNX24_HUMAN SNX24 Sorting nexin-24 169 19.8 5 Cytoplasmic vesicle membrane 0 0 4 1 3 2002-03-27 A0A0C4DH28 TRGV4_HUMAN TRGV4 T cell receptor gamma variable 4 118 13.2 7 Cell membrane 0 0 4 1 3 2019-01-16 Q08AF3 SLFN5_HUMAN SLFN5 Schlafen family member 5 891 101.1 17 0 0 4 1 3 2007-04-03 Q9Y3B9 RRP15_HUMAN RRP15 RRP15-like protein 282 31.5 1 0 0 4 1 3 2007-01-23 F8WCM5 INSR2_HUMAN INS-IGF2 Insulin, isoform 2 200 21.5 11 0 0 4 1 2 2013-06-26 O00291 HIP1_HUMAN HIP1 Huntingtin-interacting protein 1 1037 116.2 7 Cytoplasm; Nucleus; Endomembrane system; Cytoplasmic vesicle 0 0 3 1 5 2001-04-27 O14638 ENPP3_HUMAN ENPP3 Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 875 100.1 6 Cell membrane; Apical cell membrane; Secreted 1 0 3 1 5 2002-09-19 O14640 DVL1_HUMAN DVL1 Segment polarity protein dishevelled homolog DVL-1 695 75.2 1 Cell membrane; Cytoplasm; Cytoplasmic vesicle 0 1 Robinow syndrome, autosomal dominant 2 3 1 5 2000-05-30 O15247 CLIC2_HUMAN CLIC2 Chloride intracellular channel protein 2 247 28.4 X Cytoplasm; Membrane 1 0 3 1 5 1998-07-15 O15389 SIGL5_HUMAN SIGLEC5 Sialic acid-binding Ig-like lectin 5 551 60.7 19 Membrane 1 0 3 1 5 2002-11-08 O60729 CC14B_HUMAN CDC14B Dual specificity protein phosphatase CDC14B 498 56.8 9 3.1.3.16, 3.1.3.48 Nucleus 0 0 3 1 5 2004-11-23 O75319 DUS11_HUMAN DUSP11 RNA/RNP complex-1-interacting phosphatase 330 38.9 2 3.1.3.- Nucleus; Nucleus speckle 0 0 3 1 5 2002-01-23 O75884 RBBP9_HUMAN RBBP9 Serine hydrolase RBBP9 186 21 20 3.1.-.- 0 0 3 1 5 2001-09-26 O76039 CDKL5_HUMAN CDKL5 Cyclin-dependent kinase-like 5 960 107.5 X 2.7.11.22 Nucleus; Cytoplasm 0 1 Developmental and epileptic encephalopathy 2 3 1 5 1999-07-15 O94923 GLCE_HUMAN GLCE D-glucuronyl C5-epimerase 617 70.1 15 5.1.3.17 Golgi apparatus membrane 1 0 3 1 5 2002-11-15 P00505 AATM_HUMAN GOT2 Aspartate aminotransferase, mitochondrial 430 47.5 16 2.6.1.1, 2.6.1.7 Mitochondrion matrix; Cell membrane 0 1 Developmental and epileptic encephalopathy 82 3 1 5 1986-07-21 P04080 CYTB_HUMAN CSTB Cystatin-B 98 11.1 21 Cytoplasm; Nucleus 0 1 Epilepsy, progressive myoclonic 1 3 1 5 1986-11-01 P04155 TFF1_HUMAN TFF1 Trefoil factor 1 84 9.2 21 Secreted 0 0 3 1 5 1986-11-01 P04201 MAS_HUMAN MAS1 Proto-oncogene Mas 325 37.5 6 Cell membrane 7 0 3 1 5 1987-03-20 P05386 RLA1_HUMAN RPLP1 Large ribosomal subunit protein P1 114 11.5 15 0 0 3 1 5 1988-11-01 P05787 K2C8_HUMAN KRT8 Keratin, type II cytoskeletal 8 483 53.7 12 Cytoplasm; Nucleus; Nucleus matrix 0 0 3 1 5 1988-11-01 P06028 GLPB_HUMAN GYPB Glycophorin-B 91 9.8 4 Cell membrane 1 0 3 1 5 1987-08-13 P07942 LAMB1_HUMAN LAMB1 Laminin subunit beta-1 1786 198 7 Secreted 0 2 Leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus; Leukoencephalopathy without lacunae, adult-onset 3 1 5 1988-08-01 P09683 SECR_HUMAN SCT Secretin 121 13 11 Secreted 0 0 3 1 5 1989-07-01 P09769 FGR_HUMAN FGR Tyrosine-protein kinase Fgr 529 59.5 1 2.7.10.2 Cell membrane; Cell projection; Cytoplasm; Mitochondrion inner membrane; Mitochondrion intermembrane space 0 0 3 1 5 1989-07-01 P10916 MLRV_HUMAN MYL2 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform 166 18.8 12 Cytoplasm 0 2 Cardiomyopathy, familial hypertrophic, 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 3 1 5 1989-07-01 P11686 PSPC_HUMAN SFTPC Surfactant protein C 197 21 8 Secreted 0 1 Pulmonary surfactant metabolism dysfunction 2 3 1 5 1989-10-01 P15814 IGLL1_HUMAN IGLL1 Immunoglobulin lambda-like polypeptide 1 213 23 22 Endoplasmic reticulum; Secreted 0 1 Agammaglobulinemia 2, autosomal recessive 3 1 5 1990-04-01 P18084 ITB5_HUMAN ITGB5 Integrin beta-5 799 88.1 3 Cell membrane 1 0 3 1 5 1990-11-01 P22105 TENX_HUMAN TNXB Tenascin-X 4244 458.4 6 Secreted 0 2 Ehlers-Danlos syndrome, classic-like, 1; Vesicoureteral reflux 8 3 1 5 1991-08-01 P27144 KAD4_HUMAN AK4 Adenylate kinase 4, mitochondrial 223 25.3 1 2.7.4.4, 2.7.4.6 Mitochondrion matrix 0 0 3 1 5 1992-08-01 P28330 ACADL_HUMAN ACADL Long-chain specific acyl-CoA dehydrogenase, mitochondrial 430 47.7 2 1.3.8.8 Mitochondrion matrix 0 0 3 1 5 1992-12-01 P29371 NK3R_HUMAN TACR3 Neuromedin-K receptor 465 52.2 4 Cell membrane 7 1 Hypogonadotropic hypogonadism 11 with or without anosmia 3 1 5 1992-12-01 P29508 SPB3_HUMAN SERPINB3 Serpin B3 390 44.6 18 Cytoplasm 0 0 3 1 5 1993-04-01 P29536 LMOD1_HUMAN LMOD1 Leiomodin-1 600 67 1 Cytoplasm 0 1 Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 3 1 5 1993-04-01 P29622 KAIN_HUMAN SERPINA4 Kallistatin 427 48.5 14 Secreted 0 0 3 1 5 1993-04-01 P31949 S10AB_HUMAN S100A11 Protein S100-A11 105 11.7 1 Cytoplasm; Nucleus 0 0 3 1 5 1993-07-01 P32246 CCR1_HUMAN CCR1 C-C chemokine receptor type 1 355 41.2 3 Cell membrane 7 0 3 1 5 1993-10-01 P43268 ETV4_HUMAN ETV4 ETS translocation variant 4 484 53.9 17 Nucleus 0 0 3 1 5 1995-11-01 P46059 S15A1_HUMAN SLC15A1 Solute carrier family 15 member 1 708 78.8 13 Apical cell membrane 12 0 3 1 5 1995-11-01 P47712 PA24A_HUMAN PLA2G4A Cytosolic phospholipase A2 749 85.2 1 Cytoplasm; Golgi apparatus membrane; Nucleus envelope 0 1 Gastrointestinal ulceration, recurrent, with dysfunctional platelets 3 1 5 1996-02-01 P49748 ACADV_HUMAN ACADVL Very long-chain acyl-CoA dehydrogenase, mitochondrial 655 70.4 17 1.3.8.9 Mitochondrion inner membrane 0 1 Acyl-CoA dehydrogenase very long-chain deficiency 3 1 5 1996-10-01 P50406 5HT6R_HUMAN HTR6 5-hydroxytryptamine receptor 6 440 47 1 Cell membrane 7 0 3 1 5 1996-10-01 P50479 PDLI4_HUMAN PDLIM4 PDZ and LIM domain protein 4 330 35.4 5 Cytoplasm; Nucleus; Cell projection; Early endosome membrane; Recycling endosome membrane; Synapse 0 0 3 1 5 1996-10-01 P51114 FXR1_HUMAN FXR1 RNA-binding protein FXR1 621 69.7 3 Cytoplasm; Cell projection; Nucleus envelope; Postsynapse 0 2 Congenital myopathy 9A; Congenital myopathy 9B, proximal, with minicore lesions 3 1 5 1996-10-01 P51797 CLCN6_HUMAN CLCN6 H(+)/Cl(-) exchange transporter 6 869 97.3 1 Late endosome membrane 10 1 Ceroid lipofuscinosis, neuronal, 15 3 1 5 1996-10-01 P54105 ICLN_HUMAN CLNS1A Methylosome subunit pICln 237 26.2 11 Cytoplasm; Nucleus 0 0 3 1 5 1996-10-01 P56962 STX17_HUMAN STX17 Syntaxin-17 302 33.4 9 Endoplasmic reticulum membrane; Smooth endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cytoplasmic vesicle; Cytoplasm; Mitochondrion membrane; Autolysosome membrane 2 0 3 1 5 2000-12-01 P57771 RGS8_HUMAN RGS8 Regulator of G protein signaling 8 180 20.9 1 Cell membrane; Membrane; Perikaryon; Cell projection; Nucleus 0 0 3 1 5 2001-02-21 P61106 RAB14_HUMAN RAB14 Ras-related protein Rab-14 215 23.9 9 3.6.5.2 Recycling endosome; Early endosome membrane; Golgi apparatus membrane; Golgi apparatus; Cytoplasmic vesicle 0 0 3 1 5 2004-04-26 P62745 RHOB_HUMAN RHOB Rho-related GTP-binding protein RhoB 196 22.1 2 3.6.5.2 Late endosome membrane; Cell membrane; Nucleus; Cleavage furrow 0 0 3 1 5 1986-07-21 P84103 SRSF3_HUMAN SRSF3 Serine/arginine-rich splicing factor 3 164 19.3 6 Nucleus; Nucleus speckle; Cytoplasm 0 0 3 1 5 2004-08-16 P98082 DAB2_HUMAN DAB2 Disabled homolog 2 770 82.4 5 Cytoplasm; Cytoplasmic vesicle; Membrane 0 0 3 1 5 1996-02-01 Q02747 GUC2A_HUMAN GUCA2A Guanylin 115 12.4 1 Secreted 0 0 3 1 5 1993-07-01 Q05329 DCE2_HUMAN GAD2 Glutamate decarboxylase 2 585 65.4 10 4.1.1.15 Cytoplasm; Cytoplasmic vesicle; Presynaptic cell membrane; Golgi apparatus membrane 0 0 3 1 5 1996-02-01 Q08623 HDHD1_HUMAN PUDP Pseudouridine-5'-phosphatase 228 25.2 X 3.1.3.96 0 0 3 1 5 1995-02-01 Q12996 CSTF3_HUMAN CSTF3 Cleavage stimulation factor subunit 3 717 82.9 11 Nucleus 0 0 3 1 5 2005-07-19 Q13769 THOC5_HUMAN THOC5 THO complex subunit 5 683 78.5 22 Nucleus; Cytoplasm 0 0 3 1 5 2002-05-02 Q14493 SLBP_HUMAN SLBP Histone RNA hairpin-binding protein 270 31.3 4 Cytoplasm; Nucleus 0 0 3 1 5 2000-12-01 Q14938 NFIX_HUMAN NFIX Nuclear factor 1 X-type 502 55.1 19 Nucleus 0 2 Malan syndrome; Marshall-Smith syndrome 3 1 5 1997-11-01 Q14CX7 NAA25_HUMAN NAA25 N-alpha-acetyltransferase 25, NatB auxiliary subunit 972 112.3 12 Cytoplasm 0 0 3 1 5 2007-07-10 Q15269 PWP2_HUMAN PWP2 Periodic tryptophan protein 2 homolog 919 102.5 21 Nucleus 0 0 3 1 5 1997-11-01 Q15652 JHD2C_HUMAN JMJD1C Jumonji domain-containing protein 1C 2540 284.5 10 1.14.11.- Nucleus 0 0 3 1 5 1997-11-01 Q15848 ADIPO_HUMAN ADIPOQ Adiponectin 244 26.4 3 Secreted 0 1 Adiponectin deficiency 3 1 5 1997-11-01 Q495M9 USH1G_HUMAN USH1G pre-mRNA splicing regulator USH1G 461 51.5 17 Cytoplasm; Cell membrane; Cell projection; Nucleus speckle; Nucleus; Photoreceptor inner segment 0 1 Usher syndrome 1G 3 1 5 2005-11-08 Q5QNW6 H2B2F_HUMAN H2BC18 Histone H2B type 2-F 126 13.9 1 Nucleus; Chromosome 0 0 3 1 5 2006-07-11 Q5TDH0 DDI2_HUMAN DDI2 Protein DDI1 homolog 2 399 44.5 1 3.4.23.- Cytoplasm; Chromosome 0 0 3 1 5 2007-05-15 Q5ZPR3 CD276_HUMAN CD276 CD276 antigen 534 57.2 15 Membrane 1 0 3 1 5 2006-01-24 Q63HQ2 EGFLA_HUMAN EGFLAM Pikachurin 1017 111.3 5 Secreted; Synaptic cleft; Presynaptic active zone 0 0 3 1 5 2007-10-02 Q68CZ6 HAUS3_HUMAN HAUS3 HAUS augmin-like complex subunit 3 603 69.7 4 Cytoplasm 0 0 3 1 5 2007-09-11 Q6FI81 CPIN1_HUMAN CIAPIN1 Anamorsin 312 33.6 16 Cytoplasm; Nucleus; Mitochondrion intermembrane space 0 0 3 1 5 2005-01-04 Q6IQ22 RAB12_HUMAN RAB12 Ras-related protein Rab-12 340 36.3 18 3.6.5.2 Recycling endosome membrane; Lysosome membrane; Golgi apparatus membrane; Cytoplasmic vesicle 0 0 3 1 5 2007-01-09 Q6IQ23 PKHA7_HUMAN PLEKHA7 Pleckstrin homology domain-containing family A member 7 1121 127.1 11 Cell junction; Cytoplasm 0 0 3 1 5 2007-05-15 Q6NZI2 CAVN1_HUMAN CAVIN1 Caveolae-associated protein 1 390 43.5 17 Membrane; Cell membrane; Microsome; Endoplasmic reticulum; Cytoplasm; Mitochondrion; Nucleus 0 1 Lipodystrophy, congenital generalized, 4 3 1 5 2004-12-21 Q6UB28 MAP12_HUMAN METAP1D Methionine aminopeptidase 1D, mitochondrial 335 37.1 2 3.4.11.18 Mitochondrion 0 0 3 1 5 2008-01-15 Q6ZMU5 TRI72_HUMAN TRIM72 Tripartite motif-containing protein 72 477 52.7 16 2.3.2.27 Cell membrane; Cytoplasmic vesicle membrane 0 0 3 1 5 2007-02-20 Q71RC2 LARP4_HUMAN LARP4 La-related protein 4 724 80.6 12 Cytoplasm 0 0 3 1 5 2005-07-19 Q86TB9 PATL1_HUMAN PATL1 Protein PAT1 homolog 1 770 86.9 11 Cytoplasm; Nucleus; Nucleus speckle 0 0 3 1 5 2008-02-26 Q86X83 COMD2_HUMAN COMMD2 COMM domain-containing protein 2 199 22.7 3 Cytoplasm 0 0 3 1 5 2004-08-16 Q8IWU4 ZNT8_HUMAN SLC30A8 Proton-coupled zinc antiporter SLC30A8 369 40.8 8 Cytoplasmic vesicle; Cell membrane 6 0 3 1 5 2007-03-20 Q8IZI9 IFNL3_HUMAN IFNL3 Interferon lambda-3 196 21.7 19 Secreted 0 0 3 1 5 2004-11-23 Q8N4J0 CARME_HUMAN CARNMT1 Protein-L-histidine N-pros-methyltransferase CARNMT1 409 47.2 9 2.1.1.- Cytoplasm; Nucleus 0 0 3 1 5 2005-07-05 Q8NI36 WDR36_HUMAN WDR36 WD repeat-containing protein 36 895 99.4 5 Nucleus 0 1 Glaucoma 1, open angle, G 3 1 5 2004-04-26 Q8WUP2 FBLI1_HUMAN FBLIM1 Filamin-binding LIM protein 1 373 40.7 1 Cell junction; Cytoplasm 0 0 3 1 5 2003-11-07 Q8WX94 NALP7_HUMAN NLRP7 NACHT, LRR and PYD domains-containing protein 7 980 111.8 19 Cytoplasm 0 2 Hydatidiform mole, recurrent, 1; Oocyte/zygote/embryo maturation arrest 25 3 1 5 2002-10-19 Q8WXF1 PSPC1_HUMAN PSPC1 Paraspeckle component 1 523 58.7 13 Nucleus speckle; Nucleus; Nucleus matrix; Cytoplasm 0 0 3 1 5 2007-08-21 Q92187 SIA8D_HUMAN ST8SIA4 CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase 359 41.3 5 2.4.3.- Golgi apparatus membrane; Secreted 1 0 3 1 5 1997-11-01 Q93015 NAA80_HUMAN NAA80 N-alpha-acetyltransferase 80 286 31.4 3 2.3.1.- Cytoplasm 0 1 Auroneurodental syndrome 3 1 5 2002-11-08 Q93038 TNR25_HUMAN TNFRSF25 Tumor necrosis factor receptor superfamily member 25 417 45.4 1 Cell membrane 1 0 3 1 5 1997-11-01 Q969R5 LMBL2_HUMAN L3MBTL2 Lethal(3)malignant brain tumor-like protein 2 705 79.1 22 Nucleus 0 0 3 1 5 2003-01-10 Q96A44 SPSB4_HUMAN SPSB4 SPRY domain-containing SOCS box protein 4 273 30.2 3 Cytoplasm 0 0 3 1 5 2006-05-30 Q96B02 UBE2W_HUMAN UBE2W Ubiquitin-conjugating enzyme E2 W 151 17.3 8 2.3.2.23 Nucleus 0 0 3 1 5 2006-04-18 Q96BD8 SKA1_HUMAN SKA1 SKA complex subunit 1 255 29.5 18 Cytoplasm; Chromosome 0 0 3 1 5 2007-01-23 Q96CW9 NTNG2_HUMAN NTNG2 Netrin-G2 530 59.8 9 Cell membrane 0 1 Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 3 1 5 2003-09-19 Q96FQ6 S10AG_HUMAN S100A16 Protein S100-A16 103 11.8 1 Nucleus; Cytoplasm 0 0 3 1 5 2002-04-16 Q96IJ6 GMPPA_HUMAN GMPPA Mannose-1-phosphate guanylyltransferase regulatory subunit alpha 420 46.3 2 Cytoplasm 0 1 Alacrima, achalasia, and impaired intellectual development syndrome 3 1 5 2008-04-08 Q96JI7 SPTCS_HUMAN SPG11 Spatacsin 2443 278.9 15 Cytoplasm; Nucleus; Cell projection 0 3 Spastic paraplegia 11, autosomal recessive; Amyotrophic lateral sclerosis 5, juvenile; Charcot-Marie-Tooth disease, axonal, type 2X 3 1 5 2007-05-15 Q96MS0 ROBO3_HUMAN ROBO3 Roundabout homolog 3 1386 148.2 11 Membrane 1 1 Gaze palsy, familial horizontal, with progressive scoliosis, 1 3 1 5 2004-06-21 Q96QP1 ALPK1_HUMAN ALPK1 Alpha-protein kinase 1 1244 138.9 4 2.7.11.1 Cytoplasm; Cell projection 0 1 Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 3 1 5 2006-11-28 Q99466 NOTC4_HUMAN NOTCH4 Neurogenic locus notch homolog protein 4 2003 209.6 6 Cell membrane 1 0 3 1 5 2002-03-27 Q99490 AGAP2_HUMAN AGAP2 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 1192 124.6 12 Cytoplasm; Nucleus 0 0 3 1 5 1999-07-15 Q99536 VAT1_HUMAN VAT1 NADPH-dependent quinone oxidoreductase VAT1 393 41.9 17 1.6.5.5 Cytoplasm; Mitochondrion outer membrane 0 0 3 1 5 1997-11-01 Q99574 NEUS_HUMAN SERPINI1 Neuroserpin 410 46.4 3 Secreted; Cytoplasmic vesicle; Perikaryon 0 1 Encephalopathy, familial, with neuroserpin inclusion bodies 3 1 5 1998-07-15 Q9BPU6 DPYL5_HUMAN DPYSL5 Dihydropyrimidinase-related protein 5 564 61.4 2 Cytoplasm 0 1 Ritscher-Schinzel syndrome 4 3 1 5 2002-03-27 Q9BQ90 KLDC3_HUMAN KLHDC3 Kelch domain-containing protein 3 382 43.1 6 Cytoplasm 0 0 3 1 5 2006-03-21 Q9BSI4 TINF2_HUMAN TINF2 TERF1-interacting nuclear factor 2 451 50 14 Nucleus; Chromosome 0 2 Dyskeratosis congenita, autosomal dominant, 3; Dyskeratosis congenita, autosomal dominant, 5 3 1 5 2002-06-20 Q9BVI4 NOC4L_HUMAN NOC4L Nucleolar complex protein 4 homolog 516 58.5 12 Nucleus membrane; Nucleus; Cytoplasm; Cytoplasmic granule; Early endosome 3 0 3 1 5 2005-08-16 Q9BVM4 GGACT_HUMAN GGACT Gamma-glutamylaminecyclotransferase 153 17.3 13 4.3.2.8 0 0 3 1 5 2008-02-26 Q9BWP8 COL11_HUMAN COLEC11 Collectin-11 271 28.7 2 Secreted 0 1 3MC syndrome 2 3 1 5 2008-01-15 Q9BXF3 CECR2_HUMAN CECR2 Chromatin remodeling regulator CECR2 1484 164.2 22 Nucleus 0 0 3 1 5 2002-04-16 Q9BYB0 SHAN3_HUMAN SHANK3 SH3 and multiple ankyrin repeat domains protein 3 1806 191.3 Cytoplasm; Postsynaptic density; Cell projection 0 2 Phelan-McDermid syndrome; Schizophrenia 15 3 1 5 2002-07-26 Q9BZZ5 API5_HUMAN API5 Apoptosis inhibitor 5 524 59 11 Nucleus; Cytoplasm 0 0 3 1 5 2005-04-12 Q9H040 SPRTN_HUMAN SPRTN DNA-dependent metalloprotease SPRTN 489 55.1 1 3.4.24.- Nucleus; Chromosome 0 1 Ruijs-Aalfs progeroid syndrome 3 1 5 2007-12-04 Q9H0P0 5NT3A_HUMAN NT5C3A Cytosolic 5'-nucleotidase 3A 336 37.9 7 3.1.3.5 Cytoplasm 0 1 P5N deficiency 3 1 5 2005-09-13 Q9H1E1 RNAS7_HUMAN RNASE7 Ribonuclease 7 156 17.4 14 3.1.27.- Secreted 0 0 3 1 5 2001-12-19 Q9H293 IL25_HUMAN IL25 Interleukin-25 177 20.3 14 Secreted 0 0 3 1 5 2002-01-31 Q9H6R4 NOL6_HUMAN NOL6 Nucleolar protein 6 1146 127.6 9 Nucleus; Chromosome 0 0 3 1 5 2005-04-26 Q9HAV4 XPO5_HUMAN XPO5 Exportin-5 1204 136.3 6 Nucleus; Cytoplasm 0 0 3 1 5 2006-05-16 Q9HAV7 GRPE1_HUMAN GRPEL1 GrpE protein homolog 1, mitochondrial 217 24.3 4 Mitochondrion matrix 0 0 3 1 5 2001-07-11 Q9HB71 CYBP_HUMAN CACYBP Calcyclin-binding protein 228 26.2 1 Nucleus; Cytoplasm 0 0 3 1 5 2004-04-26 Q9HCM9 TRI39_HUMAN TRIM39 E3 ubiquitin-protein ligase TRIM39 518 59.7 6 2.3.2.27 Cytoplasm; Mitochondrion; Nucleus 0 0 3 1 5 2001-09-26 Q9NPJ4 PNRC2_HUMAN PNRC2 Proline-rich nuclear receptor coactivator 2 139 15.6 1 Nucleus; Cytoplasm 0 0 3 1 5 2005-03-29 Q9NQW6 ANLN_HUMAN ANLN Anillin 1124 124.2 7 Nucleus; Cytoplasm; Cell projection 0 1 Focal segmental glomerulosclerosis 8 3 1 5 2006-03-21 Q9NRN7 ADPPT_HUMAN AASDHPPT L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 309 35.8 11 2.7.8.7 Cytoplasm 0 0 3 1 5 2005-11-08 Q9NWV8 BABA1_HUMAN BABAM1 BRISC and BRCA1-A complex member 1 329 36.6 19 Cytoplasm; Nucleus 0 0 3 1 5 2007-05-29 Q9NX08 COMD8_HUMAN COMMD8 COMM domain-containing protein 8 183 21.1 4 Cytoplasm; Nucleus 0 0 3 1 5 2004-08-16 Q9NX55 HYPK_HUMAN HYPK Huntingtin-interacting protein K 121 13.7 15 Nucleus; Cytoplasm 0 0 3 1 5 2007-02-06 Q9NY61 AATF_HUMAN AATF Protein AATF 560 63.1 17 Nucleus 0 0 3 1 5 2005-07-19 Q9NYP9 MS18A_HUMAN MIS18A Protein Mis18-alpha 233 25.9 21 Nucleus; Chromosome 0 0 3 1 5 2001-01-11 Q9NZ09 UBAP1_HUMAN UBAP1 Ubiquitin-associated protein 1 502 55.1 9 Cytoplasm; Endosome 0 1 Spastic paraplegia 80, autosomal dominant 3 1 5 2005-05-10 Q9NZ63 TLS1_HUMAN C9orf78 Splicing factor C9orf78 289 33.7 9 Nucleus; Chromosome 0 0 3 1 5 2006-03-07 Q9UBH0 I36RA_HUMAN IL36RN Interleukin-36 receptor antagonist protein 155 17 2 Cytoplasm; Secreted 0 1 Psoriasis 14, pustular 3 1 5 2002-11-08 Q9UBW8 CSN7A_HUMAN COPS7A COP9 signalosome complex subunit 7a 275 30.3 12 Cytoplasm; Nucleus 0 0 3 1 5 2004-11-23 Q9UH77 KLHL3_HUMAN KLHL3 Kelch-like protein 3 587 65 5 Cytoplasm 0 1 Pseudohypoaldosteronism 2D 3 1 5 2001-04-27 Q9UIF7 MUTYH_HUMAN MUTYH Adenine DNA glycosylase 546 60.1 1 3.2.2.31 Nucleus; Mitochondrion 0 2 Familial adenomatous polyposis 2; Gastric cancer 3 1 5 2004-06-07 Q9UKI9 PO2F3_HUMAN POU2F3 POU domain, class 2, transcription factor 3 436 47.4 11 Nucleus 0 0 3 1 5 2003-02-01 Q9ULT8 HECD1_HUMAN HECTD1 E3 ubiquitin-protein ligase HECTD1 2610 289.4 14 2.3.2.26 0 0 3 1 5 2003-02-12 Q9UNZ2 NSF1C_HUMAN NSFL1C NSFL1 cofactor p47 370 40.6 20 Nucleus; Golgi apparatus; Chromosome; Cytoplasm 0 0 3 1 5 2004-01-16 Q9UQB9 AURKC_HUMAN AURKC Aurora kinase C 309 35.6 19 2.7.11.1 Nucleus; Chromosome; Cytoplasm 0 1 Spermatogenic failure 5 3 1 5 2003-01-17 Q9Y296 TPPC4_HUMAN TRAPPC4 Trafficking protein particle complex subunit 4 219 24.3 11 Postsynaptic cell membrane; Golgi apparatus membrane; Endoplasmic reticulum; Vesicle 0 1 Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 3 1 5 2002-04-16 Q9Y484 WIPI4_HUMAN WDR45 WD repeat domain phosphoinositide-interacting protein 4 360 39.9 X Preautophagosomal structure; Cytoplasm 0 1 Neurodegeneration with brain iron accumulation 5 3 1 5 2006-01-10 Q9Y4R8 TELO2_HUMAN TELO2 Telomere length regulation protein TEL2 homolog 837 91.7 16 Cytoplasm; Membrane; Nucleus; Chromosome 0 1 You-Hoover-Fong syndrome 3 1 5 2008-02-05 Q9Y5Q6 INSL5_HUMAN INSL5 Insulin-like peptide INSL5 135 15.3 1 Secreted 0 0 3 1 5 2000-05-30 Q9Y6D6 BIG1_HUMAN ARFGEF1 Brefeldin A-inhibited guanine nucleotide-exchange protein 1 1849 208.8 8 Cytoplasm; Golgi apparatus; Nucleus; Nucleus matrix 0 1 Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 3 1 5 2001-02-21 Q9Y6G9 DC1L1_HUMAN DYNC1LI1 Cytoplasmic dynein 1 light intermediate chain 1 523 56.6 3 Cytoplasm; Chromosome; Recycling endosome membrane 0 0 3 1 5 2005-08-30 O00273 DFFA_HUMAN DFFA DNA fragmentation factor subunit alpha 331 36.5 1 Cytoplasm 0 0 3 1 5 1997-11-01 O14625 CXL11_HUMAN CXCL11 C-X-C motif chemokine 11 94 10.4 4 Secreted 0 0 3 1 5 2000-05-30 O14713 ITBP1_HUMAN ITGB1BP1 Integrin beta-1-binding protein 1 200 21.8 2 Nucleus; Cytoplasm; Cell membrane; Cell projection 0 0 3 1 5 2001-11-16 O15117 FYB1_HUMAN FYB1 FYN-binding protein 1 783 85.4 5 Cytoplasm; Nucleus; Cell junction 0 1 Thrombocytopenia 3 3 1 5 1999-07-15 O15213 WDR46_HUMAN WDR46 WD repeat-containing protein 46 610 68.1 6 Nucleus 0 0 3 1 5 2002-03-27 O15467 CCL16_HUMAN CCL16 C-C motif chemokine 16 120 13.6 17 Secreted 0 0 3 1 5 1999-07-15 O15504 NUP42_HUMAN NUP42 Nucleoporin NUP42 423 44.9 7 Nucleus; Nucleus membrane 0 0 3 1 5 2005-12-06 O60551 NMT2_HUMAN NMT2 Glycylpeptide N-tetradecanoyltransferase 2 498 57 10 2.3.1.97 Cytoplasm; Membrane 0 0 3 1 5 2000-05-30 O60828 PQBP1_HUMAN PQBP1 Polyglutamine-binding protein 1 265 30.5 X Nucleus; Nucleus speckle; Cytoplasmic granule 0 1 Renpenning syndrome 1 3 1 5 2005-10-25 O75129 ASTN2_HUMAN ASTN2 Astrotactin-2 1339 148.2 9 Membrane; Perikaryon; Cytoplasm; Early endosome; Late endosome; Cytoplasmic vesicle 2 0 3 1 5 2007-10-23 O75751 S22A3_HUMAN SLC22A3 Solute carrier family 22 member 3 556 61.3 6 Cell membrane; Apical cell membrane; Basolateral cell membrane; Mitochondrion membrane; Endomembrane system; Nucleus membrane; Nucleus outer membrane 7 0 3 1 5 2002-10-19 O75976 CBPD_HUMAN CPD Carboxypeptidase D 1380 152.9 17 3.4.17.22 Cell membrane 1 0 3 1 5 2002-11-15 O95256 I18RA_HUMAN IL18RAP Interleukin-18 receptor accessory protein 599 68.3 2 3.2.2.6 Cell membrane 1 0 3 1 5 2005-09-27 O95445 APOM_HUMAN APOM Apolipoprotein M 188 21.3 6 Secreted 0 0 3 1 5 2001-09-26 O95671 ASML_HUMAN ASMTL Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein 621 68.9 X 0 0 3 1 5 2003-04-23 O95718 ERR2_HUMAN ESRRB Steroid hormone receptor ERR2 433 48.1 14 Nucleus; Cytoplasm; Chromosome 0 1 Deafness, autosomal recessive, 35 3 1 5 2001-02-21 O96018 APBA3_HUMAN APBA3 Amyloid-beta A4 precursor protein-binding family A member 3 575 61.5 19 Cytoplasm 0 0 3 1 5 2000-05-30 P02549 SPTA1_HUMAN SPTA1 Spectrin alpha chain, erythrocytic 1 2419 280 1 Cytoplasm 0 3 Elliptocytosis 2; Hereditary pyropoikilocytosis; Spherocytosis 3 3 1 5 1986-07-21 P03971 AMH_HUMAN AMH Anti-Muellerian hormone 560 59.2 19 Secreted 0 1 Persistent Muellerian duct syndrome 1 3 1 5 1986-10-23 P07225 PROS_HUMAN PROS1 Vitamin K-dependent protein S 676 75.1 3 Secreted 0 2 Thrombophilia due to protein S deficiency, autosomal dominant; Thrombophilia due to protein S deficiency, autosomal recessive 3 1 5 1988-04-01 P08833 IBP1_HUMAN IGFBP1 Insulin-like growth factor-binding protein 1 259 27.9 7 Secreted 0 0 3 1 5 1988-11-01 P0DMC3 ELA_HUMAN APELA Apelin receptor early endogenous ligand 54 6.6 4 Secreted 0 0 3 1 5 2014-02-19 P10451 OSTP_HUMAN SPP1 Osteopontin 314 35.4 4 Secreted 0 0 3 1 5 1989-07-01 P12838 DEF4_HUMAN DEFA4 Defensin alpha 4 97 10.5 8 Secreted; Cytoplasmic vesicle 0 0 3 1 5 1989-10-01 P13073 COX41_HUMAN COX4I1 Cytochrome c oxidase subunit 4 isoform 1, mitochondrial 169 19.6 16 Mitochondrion inner membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 16 3 1 5 1990-01-01 P14854 CX6B1_HUMAN COX6B1 Cytochrome c oxidase subunit 6B1 86 10.2 19 Mitochondrion inner membrane 0 1 Mitochondrial complex IV deficiency, nuclear type 7 3 1 5 1990-04-01 P15822 ZEP1_HUMAN HIVEP1 Zinc finger protein 40 2718 296.8 6 Nucleus 0 0 3 1 5 1990-04-01 P15954 COX7C_HUMAN COX7C Cytochrome c oxidase subunit 7C, mitochondrial 63 7.2 5 Mitochondrion inner membrane 1 0 3 1 5 1990-04-01 P16298 PP2BB_HUMAN PPP3CB Serine/threonine-protein phosphatase 2B catalytic subunit beta isoform 524 59 10 3.1.3.16 Cytoplasm 0 0 3 1 5 1990-08-01 P16403 H12_HUMAN H1-2 Histone H1.2 213 21.4 6 Nucleus; Chromosome 0 0 3 1 5 1990-08-01 P17655 CAN2_HUMAN CAPN2 Calpain-2 catalytic subunit 700 80 1 3.4.22.53 Cytoplasm; Cell membrane 0 0 3 1 5 1990-08-01 P19419 ELK1_HUMAN ELK1 ETS domain-containing protein Elk-1 428 44.9 X Nucleus 0 0 3 1 5 1990-11-01 P19957 ELAF_HUMAN PI3 Elafin 117 12.3 20 Secreted 0 0 3 1 5 1991-02-01 P20674 COX5A_HUMAN COX5A Cytochrome c oxidase subunit 5A, mitochondrial 150 16.8 15 Mitochondrion inner membrane 0 1 Mitochondrial complex IV deficiency, nuclear type 20 3 1 5 1991-02-01 P24593 IBP5_HUMAN IGFBP5 Insulin-like growth factor-binding protein 5 272 30.6 2 Secreted; Cytoplasm; Nucleus 0 0 3 1 5 1992-03-01 P25092 GUC2C_HUMAN GUCY2C Guanylyl cyclase C 1073 123.4 12 4.6.1.2 Cell membrane; Endoplasmic reticulum membrane 1 2 Diarrhea 6; Meconium ileus 3 1 5 1992-05-01 P28566 5HT1E_HUMAN HTR1E 5-hydroxytryptamine receptor 1E 365 41.7 6 Cell membrane 7 0 3 1 5 1992-12-01 P29120 NEC1_HUMAN PCSK1 Neuroendocrine convertase 1 753 84.2 5 3.4.21.93 Cytoplasmic vesicle 0 1 Proprotein convertase 1 deficiency 3 1 5 1992-12-01 P30837 AL1B1_HUMAN ALDH1B1 Aldehyde dehydrogenase family 1 member B1, mitochondrial 517 57.2 9 1.2.1.28, 1.2.1.3, 1.2.1.36 Mitochondrion matrix 0 0 3 1 5 1993-07-01 P31321 KAP1_HUMAN PRKAR1B cAMP-dependent protein kinase type I-beta regulatory subunit 381 43.1 7 Cell membrane 0 1 Marbach-Schaaf neurodevelopmental syndrome 3 1 5 1993-07-01 P32456 GBP2_HUMAN GBP2 Guanylate-binding protein 2 591 67.2 1 3.6.5.- Cytoplasmic vesicle membrane; Golgi apparatus membrane; Cytoplasm 0 0 3 1 5 1993-10-01 P33032 MC5R_HUMAN MC5R Melanocortin receptor 5 325 36.6 18 Cell membrane 7 0 3 1 5 1993-10-01 P36955 PEDF_HUMAN SERPINF1 Pigment epithelium-derived factor 418 46.3 17 Secreted; Melanosome 0 1 Osteogenesis imperfecta 6 3 1 5 1994-06-01 P41231 P2RY2_HUMAN P2RY2 P2Y purinoceptor 2 377 42.3 11 Cell membrane 7 0 3 1 5 1995-02-01 P41587 VIPR2_HUMAN VIPR2 Vasoactive intestinal polypeptide receptor 2 438 49.5 7 Cell membrane 7 0 3 1 5 1995-11-01 P43307 SSRA_HUMAN SSR1 Translocon-associated protein subunit alpha 286 32.2 6 Endoplasmic reticulum membrane 1 0 3 1 5 1995-11-01 P43628 KI2L3_HUMAN KIR2DL3 Killer cell immunoglobulin-like receptor 2DL3 341 37.9 19 Cell membrane 1 0 3 1 5 1995-11-01 P43631 KI2S2_HUMAN KIR2DS2 Killer cell immunoglobulin-like receptor 2DS2 304 33.5 Cell membrane 1 0 3 1 5 1995-11-01 P43652 AFAM_HUMAN AFM Afamin 599 69.1 4 Secreted 0 0 3 1 5 1995-11-01 P43694 GATA4_HUMAN GATA4 Transcription factor GATA-4 442 44.6 8 Nucleus 0 5 Atrial septal defect 2; Ventricular septal defect 1; Tetralogy of Fallot; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease 3 1 5 1995-11-01 P46013 KI67_HUMAN MKI67 Proliferation marker protein Ki-67 3256 358.7 10 Chromosome; Nucleus 0 0 3 1 5 1995-11-01 P47872 SCTR_HUMAN SCTR Secretin receptor 440 50.2 2 Cell membrane; Basolateral cell membrane 7 0 3 1 5 1996-02-01 P48023 TNFL6_HUMAN FASLG Tumor necrosis factor ligand superfamily member 6 281 31.5 1 Cell membrane; Cytoplasmic vesicle lumen; Lysosome lumen 1 1 Autoimmune lymphoproliferative syndrome 1B 3 1 5 1996-02-01 P48052 CBPA2_HUMAN CPA2 Carboxypeptidase A2 419 47 7 3.4.17.15 Secreted 0 0 3 1 5 1996-02-01 P49069 CAMLG_HUMAN CAMLG Guided entry of tail-anchored proteins factor CAMLG 296 33 5 Endoplasmic reticulum membrane 3 1 Congenital disorder of glycosylation 2Z 3 1 5 1996-02-01 P50336 PPOX_HUMAN PPOX Protoporphyrinogen oxidase 477 50.8 1 1.3.3.4 Mitochondrion inner membrane 0 2 Variegate porphyria; Variegate porphyria, childhood-onset 3 1 5 1996-10-01 P52594 AGFG1_HUMAN AGFG1 Arf-GAP domain and FG repeat-containing protein 1 562 58.3 2 Nucleus; Cytoplasmic vesicle 0 0 3 1 5 1996-10-01 P55145 MANF_HUMAN MANF Mesencephalic astrocyte-derived neurotrophic factor 182 20.7 3 Secreted; Endoplasmic reticulum lumen; Sarcoplasmic reticulum lumen 0 1 Diabetes, deafness, developmental delay, and short stature syndrome 3 1 5 1996-10-01 P58340 MLF1_HUMAN MLF1 Myeloid leukemia factor 1 268 30.6 3 Cytoplasm; Nucleus; Cell projection 0 0 3 1 5 2001-11-02 P59046 NAL12_HUMAN NLRP12 NACHT, LRR and PYD domains-containing protein 12 1061 120.2 19 Cytoplasm 0 1 Familial cold autoinflammatory syndrome 2 3 1 5 2002-10-19 P61221 ABCE1_HUMAN ABCE1 ATP-binding cassette sub-family E member 1 599 67.3 4 3.6.5.- Cytoplasm; Mitochondrion 0 0 3 1 5 2004-05-10 P62328 TYB4_HUMAN TMSB4X Thymosin beta-4 44 5.1 X Cytoplasm 0 0 3 1 5 1986-07-21 P78316 NOP14_HUMAN NOP14 Nucleolar protein 14 857 97.7 4 Nucleus 0 0 3 1 5 2004-12-07 P79483 DRB3_HUMAN HLA-DRB3 HLA class II histocompatibility antigen, DR beta 3 chain 266 30 Cell membrane; Endoplasmic reticulum membrane; Lysosome membrane; Late endosome membrane; Autolysosome membrane 1 0 3 1 5 2003-08-29 Q00973 B4GN1_HUMAN B4GALNT1 Beta-1,4 N-acetylgalactosaminyltransferase 1 533 58.9 12 2.4.1.92 Golgi apparatus membrane 1 1 Spastic paraplegia 26, autosomal recessive 3 1 5 1994-06-01 Q01085 TIAR_HUMAN TIAL1 Nucleolysin TIAR 375 41.6 10 Nucleus; Cytoplasm; Cytolytic granule 0 0 3 1 5 1993-04-01 Q01105 SET_HUMAN SET Protein SET 290 33.5 9 Cytoplasm; Endoplasmic reticulum; Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 58 3 1 5 1993-04-01 Q02218 ODO1_HUMAN OGDH 2-oxoglutarate dehydrogenase complex component E1 1023 115.9 7 1.2.4.2 Mitochondrion; Nucleus 0 0 3 1 5 1993-07-01 Q12983 BNIP3_HUMAN BNIP3 BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 194 21.5 10 Mitochondrion; Mitochondrion outer membrane 1 0 3 1 5 1999-07-15 Q13127 REST_HUMAN REST RE1-silencing transcription factor 1097 121.9 4 Nucleus; Cytoplasm 0 3 Wilms tumor 6; Fibromatosis, gingival, 5; Deafness, autosomal dominant, 27 3 1 5 2006-12-12 Q13247 SRSF6_HUMAN SRSF6 Serine/arginine-rich splicing factor 6 344 39.6 20 Nucleus; Nucleus speckle 0 0 3 1 5 1998-12-15 Q13423 NNTM_HUMAN NNT NAD(P) transhydrogenase, mitochondrial 1086 113.9 5 7.1.1.1 Mitochondrion inner membrane 14 1 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency 3 1 5 2000-05-30 Q14331 FRG1_HUMAN FRG1 Protein FRG1 258 29.2 4 Nucleus; Cytoplasm 0 1 Facioscapulohumeral muscular dystrophy 1 3 1 5 2001-09-26 Q14534 ERG1_HUMAN SQLE Squalene monooxygenase 574 63.9 8 1.14.14.17 Microsome membrane; Endoplasmic reticulum membrane 0 0 3 1 5 1997-11-01 Q15061 WDR43_HUMAN WDR43 WD repeat-containing protein 43 677 74.9 2 Nucleus 0 0 3 1 5 2004-09-27 Q15583 TGIF1_HUMAN TGIF1 Homeobox protein TGIF1 401 43 18 Nucleus 0 1 Holoprosencephaly 4 3 1 5 1997-11-01 Q15907 RB11B_HUMAN RAB11B Ras-related protein Rab-11B 218 24.5 19 3.6.5.2 Recycling endosome membrane; Cytoplasmic vesicle 0 1 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 3 1 5 1998-07-15 Q16649 NFIL3_HUMAN NFIL3 Nuclear factor interleukin-3-regulated protein 462 51.5 9 Nucleus 0 0 3 1 5 2007-06-26 Q16719 KYNU_HUMAN KYNU Kynureninase 465 52.4 2 3.7.1.3 Cytoplasm 0 2 Hydroxykynureninuria; Vertebral, cardiac, renal, and limb defects syndrome 2 3 1 5 1998-12-15 Q5JTZ9 SYAM_HUMAN AARS2 Alanine--tRNA ligase, mitochondrial 985 107.3 6 6.1.1.7 Mitochondrion 0 2 Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure 3 1 5 2006-10-03 Q5VT52 RPRD2_HUMAN RPRD2 Regulation of nuclear pre-mRNA domain-containing protein 2 1461 156 1 0 0 3 1 5 2006-06-27 Q6NUK1 SCMC1_HUMAN SLC25A24 Mitochondrial adenyl nucleotide antiporter SLC25A24 477 53.4 1 Mitochondrion inner membrane 6 1 Fontaine progeroid syndrome 3 1 5 2008-02-05 Q6PHR2 ULK3_HUMAN ULK3 Serine/threonine-protein kinase ULK3 472 53.4 15 2.7.11.1 Cytoplasm 0 0 3 1 5 2006-09-19 Q6UN15 FIP1_HUMAN FIP1L1 Pre-mRNA 3'-end-processing factor FIP1 594 66.5 4 Nucleus 0 0 3 1 5 2005-12-20 Q6W0C5 DPPA3_HUMAN DPPA3 Developmental pluripotency-associated protein 3 159 17.9 12 Nucleus; Cytoplasm 0 0 3 1 5 2006-05-30 Q6XR72 ZNT10_HUMAN SLC30A10 Calcium/manganese antiporter SLC30A10 485 52.7 1 Cell membrane; Golgi apparatus membrane; Recycling endosome membrane; Early endosome membrane 6 1 Hypermanganesemia with dystonia 1 3 1 5 2007-12-04 Q6YHK3 CD109_HUMAN CD109 CD109 antigen 1445 161.7 6 Cell membrane 0 0 3 1 5 2006-10-31 Q6ZTQ4 CDHR3_HUMAN CDHR3 Cadherin-related family member 3 885 98 7 Cell membrane 1 0 3 1 5 2007-10-02 Q7Z4L5 TT21B_HUMAN TTC21B Tetratricopeptide repeat protein 21B 1316 150.9 2 Cytoplasm 0 3 Nephronophthisis 12; Short-rib thoracic dysplasia 4 with or without polydactyly; Joubert syndrome 11 3 1 5 2007-06-26 Q86SQ0 PHLB2_HUMAN PHLDB2 Pleckstrin homology-like domain family B member 2 1253 142.2 3 Cytoplasm; Membrane; Cell projection 0 0 3 1 5 2005-12-20 Q86Y34 AGRG3_HUMAN ADGRG3 Adhesion G protein-coupled receptor G3 549 60.9 16 Cell membrane 7 0 3 1 5 2004-07-19 Q8IYB8 SUV3_HUMAN SUPV3L1 ATP-dependent RNA helicase SUPV3L1, mitochondrial 786 88 10 3.6.4.13 Nucleus; Mitochondrion matrix 0 0 3 1 5 2007-11-13 Q8IZT8 HS3S5_HUMAN HS3ST5 Heparan sulfate glucosamine 3-O-sulfotransferase 5 346 40.4 6 2.8.2.23 Golgi apparatus membrane 1 0 3 1 5 2005-03-15 Q8N0X4 CLYBL_HUMAN CLYBL Citramalyl-CoA lyase, mitochondrial 340 37.4 13 4.1.3.25 Mitochondrion 0 0 3 1 5 2007-05-01 Q8N3J5 PPM1K_HUMAN PPM1K Protein phosphatase Mn(2+)-dependent 1K 372 41 4 3.1.3.16 Mitochondrion matrix 0 1 Maple syrup urine disease, mild variant 3 1 5 2007-02-20 Q8N653 LZTR1_HUMAN LZTR1 Leucine-zipper-like transcriptional regulator 1 840 94.7 22 Endomembrane system; Recycling endosome; Golgi apparatus 0 4 Glioma; Schwannomatosis 2; Noonan syndrome 10; Noonan syndrome 2 3 1 5 2003-04-11 Q8NBR6 MINY2_HUMAN MINDY2 Ubiquitin carboxyl-terminal hydrolase MINDY-2 621 67.1 15 3.4.19.12 0 0 3 1 5 2008-07-22 Q8NFP4 MDGA1_HUMAN MDGA1 MAM domain-containing glycosylphosphatidylinositol anchor protein 1 955 105.8 6 Cell membrane 0 0 3 1 5 2004-04-13 Q8NHP6 MSPD2_HUMAN MOSPD2 Motile sperm domain-containing protein 2 518 59.7 X Endoplasmic reticulum membrane 1 0 3 1 5 2005-06-07 Q8TB72 PUM2_HUMAN PUM2 Pumilio homolog 2 1066 114.2 2 Cytoplasm; Cytoplasmic granule 0 0 3 1 5 2004-02-02 Q8TBB1 LNX1_HUMAN LNX1 E3 ubiquitin-protein ligase LNX 728 80.6 4 2.3.2.27 Cytoplasm 0 0 3 1 5 2003-02-28 Q8TCX1 DC2L1_HUMAN DYNC2LI1 Cytoplasmic dynein 2 light intermediate chain 1 351 39.6 2 Golgi apparatus; Cytoplasm; Cell projection 0 1 Short-rib thoracic dysplasia 15 with polydactyly 3 1 5 2008-02-26 Q8TE12 LMX1A_HUMAN LMX1A LIM homeobox transcription factor 1-alpha 382 42.7 1 Nucleus 0 1 Deafness, autosomal dominant, 7 3 1 5 2003-01-27 Q8WWA0 ITLN1_HUMAN ITLN1 Intelectin-1 313 35 1 Cell membrane; Secreted 0 0 3 1 5 2004-11-23 Q8WYB5 KAT6B_HUMAN KAT6B Histone acetyltransferase KAT6B 2073 231.4 10 2.3.1.48 Nucleus 0 2 Ohdo syndrome, SBBYS variant; Genitopatellar syndrome 3 1 5 2005-07-05 Q8WYK0 ACO12_HUMAN ACOT12 Acetyl-coenzyme A thioesterase 555 62 5 3.1.2.1 Cytoplasm 0 0 3 1 5 2002-11-08 Q92796 DLG3_HUMAN DLG3 Disks large homolog 3 817 90.3 X 0 1 Intellectual developmental disorder, X-linked 90 3 1 5 1997-11-01 Q92834 RPGR_HUMAN RPGR X-linked retinitis pigmentosa GTPase regulator 1020 113.4 X Cytoplasm; Golgi apparatus; Cell projection 0 4 Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections with or without deafness; Cone-rod dystrophy, X-linked 1; Macular degeneration, atrophic, X-linked 3 1 5 1997-11-01 Q92913 FGF13_HUMAN FGF13 Fibroblast growth factor 13 245 27.6 X Cell projection; Cell membrane; Cytoplasm 0 2 Developmental and epileptic encephalopathy 90; Intellectual developmental disorder, X-linked 110 3 1 5 1997-11-01 Q92963 RIT1_HUMAN RIT1 GTP-binding protein Rit1 219 25.1 1 3.6.5.2 Cell membrane 0 1 Noonan syndrome 8 3 1 5 2003-10-31 Q92968 PEX13_HUMAN PEX13 Peroxisomal membrane protein PEX13 403 44.1 2 Peroxisome membrane 3 3 Peroxisome biogenesis disorder complementation group 13; Peroxisome biogenesis disorder 11A; Peroxisome biogenesis disorder 11B 3 1 5 1998-12-15 Q969M7 UBE2F_HUMAN UBE2F NEDD8-conjugating enzyme UBE2F 185 21.1 2 2.3.2.34 0 0 3 1 5 2006-12-12 Q969Q1 TRI63_HUMAN TRIM63 E3 ubiquitin-protein ligase TRIM63 353 40.2 1 2.3.2.27 Cytoplasm; Nucleus 0 1 Cardiomyopathy, familial hypertrophic, 31 3 1 5 2002-06-06 Q969T7 5NT3B_HUMAN NT5C3B 7-methylguanosine phosphate-specific 5'-nucleotidase 300 34.4 17 3.1.3.91 Cytoplasm 0 0 3 1 5 2008-04-08 Q96BM9 ARL8A_HUMAN ARL8A ADP-ribosylation factor-like protein 8A 186 21.4 1 Late endosome membrane; Lysosome membrane; Cytoplasm; Cell projection; Synapse 0 0 3 1 5 2006-04-18 Q96C24 SYTL4_HUMAN SYTL4 Synaptotagmin-like protein 4 671 76 X Membrane; Cell membrane; Cytoplasmic vesicle 0 0 3 1 5 2003-07-25 Q96DF8 ESS2_HUMAN ESS2 Splicing factor ESS-2 homolog 476 52.6 22 Nucleus 0 0 3 1 5 2003-01-17 Q96E40 SACA9_HUMAN SPACA9 Sperm acrosome-associated protein 9 222 25.2 9 Cytoplasm; Cytoplasmic vesicle; Nucleus 0 0 3 1 5 2005-07-05 Q96G21 IMP4_HUMAN IMP4 U3 small nucleolar ribonucleoprotein protein IMP4 291 33.8 2 Nucleus 0 0 3 1 5 2005-08-16 Q96KN9 CXD4_HUMAN GJD4 Gap junction delta-4 protein 370 40.1 10 Cell membrane; Cell junction 4 0 3 1 5 2008-01-15 Q96LD8 SENP8_HUMAN SENP8 Sentrin-specific protease 8 212 24.1 15 3.4.22.- 0 0 3 1 5 2002-11-28 Q99808 S29A1_HUMAN SLC29A1 Equilibrative nucleoside transporter 1 456 50.2 6 Basolateral cell membrane; Apical cell membrane; Cell membrane 11 0 3 1 5 2000-12-01 Q9BRV8 SIKE1_HUMAN SIKE1 Suppressor of IKBKE 1 207 23.7 1 Cytoplasm 0 0 3 1 5 2007-09-11 Q9BVK8 TM147_HUMAN TMEM147 BOS complex subunit TMEM147 224 25.3 19 Endoplasmic reticulum membrane; Nucleus membrane; Cell membrane 7 1 Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly 3 1 5 2007-01-09 Q9BVW5 TIPIN_HUMAN TIPIN TIMELESS-interacting protein 301 34.6 15 Cytoplasm; Nucleus 0 0 3 1 5 2007-10-02 Q9BZI7 REN3B_HUMAN UPF3B Regulator of nonsense transcripts 3B 483 57.8 X Nucleus; Cytoplasm 0 1 Intellectual developmental disorder, X-linked, syndromic 14 3 1 5 2005-03-01 Q9GZL7 WDR12_HUMAN WDR12 Ribosome biogenesis protein WDR12 423 47.7 2 Nucleus 0 0 3 1 5 2002-03-27 Q9H1K0 RBNS5_HUMAN RBSN Rabenosyn-5 784 88.9 3 Cell membrane; Early endosome membrane 0 2 Kariminejad neurodevelopmental syndrome; Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities 3 1 5 2005-10-11 Q9H583 HEAT1_HUMAN HEATR1 HEAT repeat-containing protein 1 2144 242.4 1 Nucleus 0 0 3 1 5 2001-06-01 Q9HBE4 IL21_HUMAN IL21 Interleukin-21 162 18.7 4 Secreted 0 1 Immunodeficiency, common variable, 11 3 1 5 2004-11-23 Q9HC52 CBX8_HUMAN CBX8 Chromobox protein homolog 8 389 43.4 17 Nucleus 0 0 3 1 5 2001-08-29 Q9HD42 CHM1A_HUMAN CHMP1A Charged multivesicular body protein 1a 196 21.7 16 Cytoplasm; Endosome membrane; Nucleus matrix 0 1 Pontocerebellar hypoplasia 8 3 1 5 2005-04-12 Q9NPH0 PPA6_HUMAN ACP6 Lysophosphatidic acid phosphatase type 6 428 48.9 1 3.1.3.106 Mitochondrion 0 0 3 1 5 2005-06-21 Q9NPJ3 ACO13_HUMAN ACOT13 Acyl-coenzyme A thioesterase 13 140 15 6 3.1.2.- Cytoplasm; Mitochondrion; Nucleus 0 0 3 1 5 2002-09-19 Q9NR96 TLR9_HUMAN TLR9 Toll-like receptor 9 1032 115.9 3 Endoplasmic reticulum membrane; Early endosome membrane; Lysosome; Cytoplasmic vesicle; Golgi apparatus membrane 1 0 3 1 5 2002-01-31 Q9NRA8 4ET_HUMAN EIF4ENIF1 Eukaryotic translation initiation factor 4E transporter 985 108.2 22 Cytoplasm; Nucleus; Nucleus speckle 0 0 3 1 5 2002-08-02 Q9NRY2 SOSSC_HUMAN INIP SOSS complex subunit C 104 11.4 9 Nucleus 0 0 3 1 5 2007-03-06 Q9NSA3 CNBP1_HUMAN CTNNBIP1 Beta-catenin-interacting protein 1 81 9.2 1 Cytoplasm; Nucleus 0 0 3 1 5 2003-03-28 Q9NXE8 CWC25_HUMAN CWC25 Pre-mRNA-splicing factor CWC25 homolog 425 49.6 17 Nucleus 0 0 3 1 5 2007-05-29 Q9NZL4 HPBP1_HUMAN HSPBP1 Hsp70-binding protein 1 359 39.3 19 0 0 3 1 5 2005-10-25 Q9NZN1 IRPL1_HUMAN IL1RAPL1 Interleukin-1 receptor accessory protein-like 1 696 80 X 3.2.2.6 Cell membrane; Cytoplasm; Cell projection 1 1 Intellectual developmental disorder, X-linked 21 3 1 5 2003-08-22 Q9NZU0 FLRT3_HUMAN FLRT3 Leucine-rich repeat transmembrane protein FLRT3 649 73 20 Cell membrane; Presynaptic cell membrane; Endoplasmic reticulum membrane; Cell junction; Secreted; Cell projection 1 1 Hypogonadotropic hypogonadism 21 with or without anosmia 3 1 5 2002-03-27 Q9P0L2 MARK1_HUMAN MARK1 Serine/threonine-protein kinase MARK1 795 89 1 2.7.11.1, 2.7.11.26 Cell membrane; Cytoplasm; Cell projection 0 0 3 1 5 2005-04-12 Q9P0L9 PK2L1_HUMAN PKD2L1 Polycystin-2-like protein 1 805 92 10 Cell projection; Cell membrane; Cytoplasmic vesicle 6 0 3 1 5 2002-10-10 Q9P126 CLC1B_HUMAN CLEC1B C-type lectin domain family 1 member B 229 26.6 12 Membrane 1 0 3 1 5 2007-03-06 Q9P2D8 UNC79_HUMAN UNC79 Protein unc-79 homolog 2635 295.3 14 Cell membrane 2 0 3 1 5 2008-01-15 Q9UBN4 TRPC4_HUMAN TRPC4 Short transient receptor potential channel 4 977 112.1 13 Cell membrane 6 0 3 1 5 2001-04-27 Q9UHL4 DPP2_HUMAN DPP7 Dipeptidyl peptidase 2 492 54.3 9 3.4.14.2 Lysosome; Cytoplasmic vesicle; Secreted 0 0 3 1 5 2001-04-27 Q9UIW2 PLXA1_HUMAN PLXNA1 Plexin-A1 1896 211.1 3 Cell membrane 1 1 Dworschak-Punetha neurodevelopmental syndrome 3 1 5 2006-04-18 Q9UJA5 TRM6_HUMAN TRMT6 tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 497 55.8 20 Nucleus 0 0 3 1 5 2006-05-02 Q9UK32 KS6A6_HUMAN RPS6KA6 Ribosomal protein S6 kinase alpha-6 745 83.9 X 2.7.11.1 Cytoplasm; Nucleus 0 0 3 1 5 2000-12-01 Q9UK99 FBX3_HUMAN FBXO3 F-box only protein 3 471 54.6 11 Nucleus 0 0 3 1 5 2001-02-21 Q9UKN8 TF3C4_HUMAN GTF3C4 General transcription factor 3C polypeptide 4 822 92 9 2.3.1.48 Nucleus 0 0 3 1 5 2004-06-07 Q9UKX7 NUP50_HUMAN NUP50 Nuclear pore complex protein Nup50 468 50.1 22 Nucleus; Nucleus membrane 0 0 3 1 5 2002-05-02 Q9ULD6 INTU_HUMAN INTU Protein inturned 942 105.6 4 Cytoplasm; Cell surface 0 3 Short-rib thoracic dysplasia 20 with polydactyly; Orofaciodigital syndrome 17; Short-rib thoracic dysplasia 7/20 with polydactyly, digenic 3 1 5 2005-08-16 Q9UN36 NDRG2_HUMAN NDRG2 Protein NDRG2 371 40.8 14 Cytoplasm; Cell projection 0 0 3 1 5 2000-12-01 Q9UN37 VPS4A_HUMAN VPS4A Vacuolar protein sorting-associated protein 4A 437 48.9 16 3.6.4.6 Late endosome membrane; Midbody; Cytoplasm 0 1 CIMDAG syndrome 3 1 5 2005-04-12 Q9UPN3 MACF1_HUMAN MACF1 Microtubule-actin cross-linking factor 1, isoforms 1/2/3/4/5 7388 838.3 1 Cytoplasm; Golgi apparatus; Cell membrane; Cell projection 0 1 Lissencephaly 9 with complex brainstem malformation 3 1 5 2001-06-01 Q9Y232 CDYL_HUMAN CDYL Chromodomain Y-like protein 598 66.5 6 Nucleus; Chromosome 0 0 3 1 5 2003-09-19 Q9Y2M5 KLH20_HUMAN KLHL20 Kelch-like protein 20 609 68 1 Cytoplasm; Golgi apparatus; Cell projection 0 1 Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities 3 1 5 2001-04-27 Q9Y2Y0 AR2BP_HUMAN ARL2BP ADP-ribosylation factor-like protein 2-binding protein 163 18.8 16 Cytoplasm; Mitochondrion intermembrane space; Nucleus 0 1 Retinitis pigmentosa 82 with or without situs inversus 3 1 5 2007-05-15 Q9Y4F3 MARF1_HUMAN MARF1 Meiosis regulator and mRNA stability factor 1 1742 192.9 16 Peroxisome 0 0 3 1 5 2007-02-06 Q9Y5P6 GMPPB_HUMAN GMPPB Mannose-1-phosphate guanylyltransferase catalytic subunit beta 360 39.8 3 2.7.7.13 Cytoplasm 0 3 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14; Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14; Muscular dystrophy-dystroglycanopathy limb-girdle C14 3 1 5 2007-10-23 Q9Y5X0 SNX10_HUMAN SNX10 Sorting nexin-10 201 23.6 7 Cytoplasm; Endosome membrane 0 1 Osteopetrosis, autosomal recessive 8 3 1 5 2000-12-01 Q9Y613 FHOD1_HUMAN FHOD1 FH1/FH2 domain-containing protein 1 1164 126.6 16 Cytoplasm; Cell projection 0 0 3 1 5 2001-02-21 Q9Y616 IRAK3_HUMAN IRAK3 Interleukin-1 receptor-associated kinase 3 596 67.8 12 Cytoplasm; Nucleus 0 1 Asthma-related traits 5 3 1 5 2004-11-09 Q9Y617 SERC_HUMAN PSAT1 Phosphoserine aminotransferase 370 40.4 9 2.6.1.52 0 2 Phosphoserine aminotransferase deficiency; Neu-Laxova syndrome 2 3 1 5 2000-05-30 Q9Y6U3 SCIN_HUMAN SCIN Scinderin 715 80.5 7 Cytoplasm; Cell projection 0 0 3 1 5 2001-06-20 A6NED2 RCCD1_HUMAN RCCD1 RCC1 domain-containing protein 1 376 40.1 15 Chromosome 0 0 3 1 5 2008-06-10 O00590 ACKR2_HUMAN ACKR2 Atypical chemokine receptor 2 384 43.4 3 Early endosome; Recycling endosome; Cell membrane 7 0 3 1 5 2001-06-20 O14593 RFXK_HUMAN RFXANK DNA-binding protein RFXANK 260 28.1 19 Cytoplasm; Nucleus 0 1 MHC class II deficiency 2 3 1 5 1999-07-15 O14737 PDCD5_HUMAN PDCD5 Programmed cell death protein 5 125 14.3 19 Nucleus; Cytoplasm 0 0 3 1 5 2000-05-30 O15498 YKT6_HUMAN YKT6 Synaptobrevin homolog YKT6 198 22.4 7 2.3.1.- Cytoplasm; Cytoplasmic vesicle membrane; Golgi apparatus membrane 0 0 3 1 5 2007-03-20 O15525 MAFG_HUMAN MAFG Transcription factor MafG 162 17.9 17 Nucleus 0 0 3 1 5 2000-05-30 O43665 RGS10_HUMAN RGS10 Regulator of G protein signaling 10 181 21.2 10 Nucleus 0 0 3 1 5 1998-12-15 O60331 PI51C_HUMAN PIP5K1C Phosphatidylinositol 4-phosphate 5-kinase type-1 gamma 668 73.3 19 2.7.1.68 Cell membrane; Endomembrane system; Cytoplasm; Cell junction; Cell projection 0 1 Lethal congenital contracture syndrome 3 3 1 5 2005-10-25 O75382 TRIM3_HUMAN TRIM3 Tripartite motif-containing protein 3 744 80.8 11 2.3.2.27 Cytoplasm; Early endosome; Golgi apparatus; Cell projection 0 0 3 1 5 2002-06-06 O75636 FCN3_HUMAN FCN3 Ficolin-3 299 32.9 1 Secreted; Cell surface 0 1 Ficolin 3 deficiency 3 1 5 2001-02-21 O75792 RNH2A_HUMAN RNASEH2A Ribonuclease H2 subunit A 299 33.4 19 3.1.26.4 Nucleus 0 1 Aicardi-Goutieres syndrome 4 3 1 5 2000-12-01 O75818 RPP40_HUMAN RPP40 Ribonuclease P protein subunit p40 363 41.8 6 Nucleus 0 0 3 1 5 2001-02-21 O94817 ATG12_HUMAN ATG12 Ubiquitin-like protein ATG12 140 15.1 5 Cytoplasm; Preautophagosomal structure membrane 0 0 3 1 5 2001-11-16 O94829 IPO13_HUMAN IPO13 Importin-13 963 108.2 1 Cytoplasm; Nucleus 0 0 3 1 5 2004-07-19 O94868 FCSD2_HUMAN FCHSD2 F-BAR and double SH3 domains protein 2 740 84.3 11 Cytoplasm; Cell junction; Membrane; Cell membrane; Cell projection 0 0 3 1 5 2007-02-20 O94986 CE152_HUMAN CEP152 Centrosomal protein of 152 kDa 1710 195.6 15 Cytoplasm 0 2 Microcephaly 9, primary, autosomal recessive; Seckel syndrome 5 3 1 5 2005-03-29 O95858 TSN15_HUMAN TSPAN15 Tetraspanin-15 294 33.2 10 Cell membrane; Late endosome membrane 4 0 3 1 5 2000-12-01 P00395 COX1_HUMAN MT-CO1 Cytochrome c oxidase subunit 1 513 57 MT 7.1.1.9 Mitochondrion inner membrane 12 5 Leber hereditary optic neuropathy; Mitochondrial complex IV deficiency; Recurrent myoglobinuria mitochondrial; Deafness, sensorineural, mitochondrial; Colorectal cancer 3 1 5 1986-07-21 P00414 COX3_HUMAN MT-CO3 Cytochrome c oxidase subunit 3 261 30 MT 7.1.1.9 Mitochondrion inner membrane 7 3 Leber hereditary optic neuropathy; Mitochondrial complex IV deficiency; Recurrent myoglobinuria mitochondrial 3 1 5 1986-07-21 P01100 FOS_HUMAN FOS Protein c-Fos 380 40.7 14 Nucleus; Endoplasmic reticulum; Cytoplasm 0 0 3 1 5 1986-07-21 P01286 SLIB_HUMAN GHRH Somatoliberin 108 12.4 20 Secreted 0 0 3 1 5 1986-07-21 P04264 K2C1_HUMAN KRT1 Keratin, type II cytoskeletal 1 644 66 12 Cell membrane; Cytoplasm 0 6 Epidermolytic hyperkeratosis 1; Ichthyosis hystrix, Curth-Macklin type; Keratoderma, palmoplantar, non-epidermolytic; Ichthyosis, annular epidermolytic, 2; Keratoderma, palmoplantar, striate 3; Palmoplantar keratoderma, epidermolytic, 2 3 1 5 1987-03-20 P05549 AP2A_HUMAN TFAP2A Transcription factor AP-2-alpha 437 48.1 6 Nucleus 0 1 Branchiooculofacial syndrome 3 1 5 1989-07-01 P08493 MGP_HUMAN MGP Matrix Gla protein 103 12.4 12 Secreted 0 1 Keutel syndrome 3 1 5 1988-08-01 P09669 COX6C_HUMAN COX6C Cytochrome c oxidase subunit 6C 75 8.8 8 Mitochondrion inner membrane 1 0 3 1 5 1989-07-01 P0CG04 IGLC1_HUMAN IGLC1 Immunoglobulin lambda constant 1 106 11.3 Secreted; Cell membrane 0 0 3 1 5 2010-06-15 P10606 COX5B_HUMAN COX5B Cytochrome c oxidase subunit 5B, mitochondrial 129 13.7 2 Mitochondrion inner membrane 0 0 3 1 5 1989-07-01 P11171 EPB41_HUMAN EPB41 Protein 4.1 864 97 1 Cytoplasm; Nucleus 0 1 Elliptocytosis 1 3 1 5 1989-07-01 P11831 SRF_HUMAN SRF Serum response factor 508 51.6 6 Nucleus 0 0 3 1 5 1989-10-01 P11908 PRPS2_HUMAN PRPS2 Ribose-phosphate pyrophosphokinase 2 318 34.8 X 2.7.6.1 0 0 3 1 5 1989-10-01 P12018 VPREB_HUMAN VPREB1 Immunoglobulin iota chain 145 16.6 22 Endoplasmic reticulum 0 0 3 1 5 1989-10-01 P12544 GRAA_HUMAN GZMA Granzyme A 262 29 5 3.4.21.78 Secreted; Cytoplasmic granule 0 0 3 1 5 1989-10-01 P13224 GP1BB_HUMAN GP1BB Platelet glycoprotein Ib beta chain 206 21.7 22 Membrane 1 1 Bernard-Soulier syndrome 3 1 5 1990-01-01 P13725 ONCM_HUMAN OSM Oncostatin-M 252 28.5 22 Secreted 0 0 3 1 5 1990-01-01 P14406 CX7A2_HUMAN COX7A2 Cytochrome c oxidase subunit 7A2, mitochondrial 83 9.4 6 Mitochondrion inner membrane 1 0 3 1 5 1990-01-01 P14868 SYDC_HUMAN DARS1 Aspartate--tRNA ligase, cytoplasmic 501 57.1 2 6.1.1.12 Cytoplasm 0 1 Hypomyelination with brainstem and spinal cord involvement and leg spasticity 3 1 5 1990-04-01 P18827 SDC1_HUMAN SDC1 Syndecan-1 310 32.5 2 Membrane; Secreted 1 0 3 1 5 1990-11-01 P20592 MX2_HUMAN MX2 Interferon-induced GTP-binding protein Mx2 715 82.1 21 Cytoplasm; Nucleus 0 0 3 1 5 1991-02-01 P20827 EFNA1_HUMAN EFNA1 Ephrin-A1 205 23.8 1 Cell membrane 0 0 3 1 5 1991-02-01 P20929 NEBU_HUMAN NEB Nebulin 8525 986.7 2 Cytoplasm 0 2 Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 3 1 5 1991-02-01 P21917 DRD4_HUMAN DRD4 Dopamine receptor D4 419 43.9 11 Cell membrane 7 0 3 1 5 1991-05-01 P22680 CP7A1_HUMAN CYP7A1 Cytochrome P450 7A1 504 57.7 8 Endoplasmic reticulum membrane; Microsome membrane 1 0 3 1 5 1991-08-01 P23378 GCSP_HUMAN GLDC Glycine dehydrogenase (decarboxylating), mitochondrial 1020 112.7 9 1.4.4.2 Mitochondrion 0 1 Non-ketotic hyperglycinemia 3 1 5 1991-11-01 P23434 GCSH_HUMAN GCSH Glycine cleavage system H protein, mitochondrial 173 18.9 16 Mitochondrion 0 1 Multiple mitochondrial dysfunctions syndrome 7 3 1 5 1991-11-01 P23588 IF4B_HUMAN EIF4B Eukaryotic translation initiation factor 4B 611 69.2 12 0 0 3 1 5 1991-11-01 P23771 GATA3_HUMAN GATA3 Trans-acting T-cell-specific transcription factor GATA-3 443 47.9 10 Nucleus 0 1 Hypoparathyroidism, sensorineural deafness, and renal disease 3 1 5 1991-11-01 P29322 EPHA8_HUMAN EPHA8 Ephrin type-A receptor 8 1005 111 1 2.7.10.1 Cell membrane; Cell projection; Early endosome membrane 1 0 3 1 5 1992-12-01 P29558 RBMS1_HUMAN RBMS1 RNA-binding motif, single-stranded-interacting protein 1 406 44.5 2 Nucleus 0 0 3 1 5 1993-04-01 P30040 ERP29_HUMAN ERP29 Endoplasmic reticulum resident protein 29 261 29 12 Endoplasmic reticulum lumen; Melanosome 0 0 3 1 5 1993-04-01 P31943 HNRH1_HUMAN HNRNPH1 Heterogeneous nuclear ribonucleoprotein H 449 49.2 5 Nucleus 0 1 Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 3 1 5 1993-07-01 P33241 LSP1_HUMAN LSP1 Lymphocyte-specific protein 1 339 37.2 11 Cell membrane 0 0 3 1 5 1994-02-01 P34130 NTF4_HUMAN NTF4 Neurotrophin-4 210 22.4 19 Secreted 0 1 Glaucoma 1, open angle, O 3 1 5 1994-02-01 P35398 RORA_HUMAN RORA Nuclear receptor ROR-alpha 523 59 15 Nucleus 0 1 Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 3 1 5 1994-06-01 P35499 SCN4A_HUMAN SCN4A Sodium channel protein type 4 subunit alpha 1836 208.1 17 Cell membrane 24 8 Paramyotonia congenita; Periodic paralysis hypokalemic 2; Periodic paralysis hyperkalemic; Periodic paralysis normokalemic; Myotonia SCN4A-related; Myasthenic syndrome, congenital, 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 3 1 5 1994-06-01 P35680 HNF1B_HUMAN HNF1B Hepatocyte nuclear factor 1-beta 557 61.3 17 Nucleus 0 3 Renal cysts and diabetes syndrome; Type 2 diabetes mellitus; Prostate cancer, hereditary, 11 3 1 5 1994-06-01 P35754 GLRX1_HUMAN GLRX Glutaredoxin-1 106 11.8 5 Cytoplasm 0 0 3 1 5 1994-06-01 P38484 INGR2_HUMAN IFNGR2 Interferon gamma receptor 2 337 37.8 21 Cell membrane; Cytoplasmic vesicle membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane; Cytoplasm 1 1 Immunodeficiency 28 3 1 5 1994-10-01 P40939 ECHA_HUMAN HADHA Trifunctional enzyme subunit alpha, mitochondrial 763 83 2 Mitochondrion; Mitochondrion inner membrane 0 3 Mitochondrial trifunctional protein deficiency 1; Long-chain 3-hydroxyl-CoA dehydrogenase deficiency; Maternal acute fatty liver of pregnancy 3 1 5 1995-02-01 P43250 GRK6_HUMAN GRK6 G protein-coupled receptor kinase 6 576 66 5 2.7.11.16 Membrane 0 0 3 1 5 1995-11-01 P43320 CRBB2_HUMAN CRYBB2 Beta-crystallin B2 205 23.4 22 0 1 Cataract 3, multiple types 3 1 5 1995-11-01 P45880 VDAC2_HUMAN VDAC2 Non-selective voltage-gated ion channel VDAC2 294 31.6 10 Mitochondrion outer membrane; Membrane 19 0 3 1 5 1995-11-01 P46939 UTRN_HUMAN UTRN Utrophin 3433 394.5 6 Postsynaptic cell membrane; Cytoplasm 0 0 3 1 5 1995-11-01 P51784 UBP11_HUMAN USP11 Ubiquitin carboxyl-terminal hydrolase 11 963 109.8 X 3.4.19.12 Nucleus; Cytoplasm; Chromosome 0 0 3 1 5 1996-10-01 P53992 SC24C_HUMAN SEC24C Protein transport protein Sec24C 1094 118.3 10 Cytoplasmic vesicle; Endoplasmic reticulum membrane; Cytoplasm 0 0 3 1 5 1996-10-01 P54368 OAZ1_HUMAN OAZ1 Ornithine decarboxylase antizyme 1 228 25.4 19 0 0 3 1 5 1996-10-01 P55209 NP1L1_HUMAN NAP1L1 Nucleosome assembly protein 1-like 1 391 45.4 12 Nucleus; Chromosome; Melanosome; Cytoplasm 0 0 3 1 5 1996-10-01 P59047 NALP5_HUMAN NLRP5 NACHT, LRR and PYD domains-containing protein 5 1200 134.3 19 Cytoplasm; Cytoplasmic vesicle; Mitochondrion; Nucleus; Golgi apparatus 0 1 Oocyte/zygote/embryo maturation arrest 19 3 1 5 2002-10-19 P62070 RRAS2_HUMAN RRAS2 Ras-related protein R-Ras2 204 23.4 11 3.6.5.2 Cell membrane; Golgi apparatus membrane 0 2 Ovarian cancer; Noonan syndrome 12 3 1 5 2004-06-21 P62699 YPEL5_HUMAN YPEL5 Protein yippee-like 5 121 13.8 2 Nucleus; Cytoplasm; Midbody 0 0 3 1 5 2004-07-19 P63252 KCNJ2_HUMAN KCNJ2 Inward rectifier potassium channel 2 427 48.3 17 Cell membrane 2 3 Long QT syndrome 7; Short QT syndrome 3; Atrial fibrillation, familial, 9 3 1 5 2004-10-11 P78560 CRADD_HUMAN CRADD Death domain-containing protein CRADD 199 22.7 12 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly 3 1 5 1997-11-01 P80075 CCL8_HUMAN CCL8 C-C motif chemokine 8 99 11.2 17 Secreted 0 0 3 1 5 1992-12-01 Q00169 PIPNA_HUMAN PITPNA Phosphatidylinositol transfer protein alpha isoform 270 31.8 17 Cytoplasm; Nucleus 0 0 3 1 5 1992-12-01 Q01082 SPTB2_HUMAN SPTBN1 Spectrin beta chain, non-erythrocytic 1 2364 274.6 2 Cytoplasm; Cell membrane 0 1 Developmental delay, impaired speech, and behavioral abnormalities 3 1 5 1997-11-01 Q08043 ACTN3_HUMAN ACTN3 Alpha-actinin-3 901 103.2 11 0 0 3 1 5 1995-02-01 Q09666 AHNK_HUMAN AHNAK Neuroblast differentiation-associated protein AHNAK 5890 629.1 11 Nucleus 0 0 3 1 5 1996-02-01 Q10469 MGAT2_HUMAN MGAT2 Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 447 51.6 14 2.4.1.143 Golgi apparatus membrane 1 1 Congenital disorder of glycosylation 2A 3 1 5 1996-10-01 Q12788 TBL3_HUMAN TBL3 Transducin beta-like protein 3 808 89 16 Nucleus 0 0 3 1 5 1998-07-15 Q12864 CAD17_HUMAN CDH17 Cadherin-17 832 92.2 8 Cell membrane 1 0 3 1 5 2001-04-27 Q12912 IRAG2_HUMAN IRAG2 Inositol 1,4,5-triphosphate receptor associated 2 555 62.1 12 Endoplasmic reticulum membrane; Nucleus envelope; Cytoplasm; Chromosome 1 0 3 1 5 2005-08-16 Q13163 MP2K5_HUMAN MAP2K5 Dual specificity mitogen-activated protein kinase kinase 5 448 50.1 15 2.7.12.2 0 0 3 1 5 1997-11-01 Q13183 S13A2_HUMAN SLC13A2 Solute carrier family 13 member 2 592 64.4 17 Apical cell membrane 13 0 3 1 5 1997-11-01 Q13478 IL18R_HUMAN IL18R1 Interleukin-18 receptor 1 541 62.3 2 3.2.2.6 Membrane 1 0 3 1 5 2002-12-06 Q13576 IQGA2_HUMAN IQGAP2 Ras GTPase-activating-like protein IQGAP2 1575 180.6 5 0 0 3 1 5 2001-05-04 Q13643 FHL3_HUMAN FHL3 Four and a half LIM domains protein 3 280 31.2 1 Nucleus; Cytoplasm 0 0 3 1 5 1997-11-01 Q13772 NCOA4_HUMAN NCOA4 Nuclear receptor coactivator 4 614 69.7 10 Cytoplasmic vesicle; Autolysosome; Nucleus; Chromosome 0 0 3 1 5 2000-12-01 Q13948 CASP_HUMAN CUX1 Protein CASP 678 77.5 7 Golgi apparatus membrane 1 0 3 1 5 2006-01-10 Q14449 GRB14_HUMAN GRB14 Growth factor receptor-bound protein 14 540 61 2 Cytoplasm; Endosome membrane 0 0 3 1 5 1999-07-15 Q14692 BMS1_HUMAN BMS1 Ribosome biogenesis protein BMS1 homolog 1282 145.8 10 3.6.5.- Nucleus 0 1 Aplasia cutis congenita, non-syndromic 3 1 5 2002-12-13 Q14703 MBTP1_HUMAN MBTPS1 Membrane-bound transcription factor site-1 protease 1052 117.7 16 3.4.21.112 Endoplasmic reticulum membrane; Golgi apparatus membrane; Secreted; Mitochondrion 1 2 Spondyloepiphyseal dysplasia, Kondo-Fu type; Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome 3 1 5 2001-11-16 Q14781 CBX2_HUMAN CBX2 Chromobox protein homolog 2 532 56.1 17 Nucleus; Chromosome 0 1 46,XY sex reversal 5 3 1 5 2001-01-24 Q15642 CIP4_HUMAN TRIP10 Cdc42-interacting protein 4 601 68.4 19 Cytoplasm; Lysosome; Golgi apparatus; Cell membrane; Cell projection 0 0 3 1 5 1997-11-01 Q15678 PTN14_HUMAN PTPN14 Tyrosine-protein phosphatase non-receptor type 14 1187 135.3 1 3.1.3.48 Cytoplasm; Nucleus 0 1 Choanal atresia and lymphedema 3 1 5 1997-11-01 Q16625 OCLN_HUMAN OCLN Occludin 522 59.1 5 Cell membrane; Cell junction 4 1 Pseudo-TORCH syndrome 1 3 1 5 1998-12-15 Q2TBE0 C19L2_HUMAN CWF19L2 Pre-mRNA splicing factor CWF19L2 894 103.8 11 Nucleus 0 0 3 1 5 2008-01-15 Q4KMG0 CDON_HUMAN CDON Cell adhesion molecule-related/down-regulated by oncogenes 1287 139.1 11 Cell membrane 1 1 Holoprosencephaly 11 3 1 5 2006-05-02 Q5JTC6 AMER1_HUMAN AMER1 APC membrane recruitment protein 1 1135 124 X Cytoplasm; Cell membrane; Nucleus 0 1 Osteopathia striata with cranial sclerosis 3 1 5 2007-04-03 Q5JTJ3 COA6_HUMAN COA6 Cytochrome c oxidase assembly factor 6 homolog 125 14.1 1 Mitochondrion intermembrane space 0 1 Mitochondrial complex IV deficiency, nuclear type 13 3 1 5 2007-03-20 Q5T440 CAF17_HUMAN IBA57 Iron-sulfur cluster assembly factor IBA57, mitochondrial 356 38.2 1 Mitochondrion 0 2 Multiple mitochondrial dysfunctions syndrome 3; Spastic paraplegia 74, autosomal recessive 3 1 5 2007-02-20 Q5T5U3 RHG21_HUMAN ARHGAP21 Rho GTPase-activating protein 21 1958 217.5 10 Golgi apparatus membrane; Cell junction; Cytoplasmic vesicle membrane; Cytoplasm 0 0 3 1 5 2007-10-02 Q5VT66 MARC1_HUMAN MTARC1 Mitochondrial amidoxime-reducing component 1 337 37.5 1 1.7.-.- Mitochondrion outer membrane; Membrane 1 0 3 1 5 2007-01-23 Q5VZK9 CARL1_HUMAN CARMIL1 F-actin-uncapping protein LRRC16A 1371 151.6 6 Cytoplasm; Cell membrane; Cell projection 0 0 3 1 5 2008-03-18 Q68DK7 MSL1_HUMAN MSL1 Male-specific lethal 1 homolog 614 67.1 17 Nucleus; Nucleus speckle 0 0 3 1 5 2008-09-02 Q6H8Q1 ABLM2_HUMAN ABLIM2 Actin-binding LIM protein 2 611 67.8 4 Cytoplasm 0 0 3 1 5 2004-12-07 Q6ICL3 TNG2_HUMAN TANGO2 Transport and Golgi organization protein 2 homolog 276 30.9 22 Cytoplasm; Mitochondrion; Golgi apparatus 0 1 Metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 3 1 5 2006-10-17 Q6NSJ0 MYORG_HUMAN MYORG Alpha-galactosidase MYORG 714 81.1 9 3.2.1.22 Nucleus membrane; Endoplasmic reticulum membrane 1 1 Basal ganglia calcification, idiopathic, 7, autosomal recessive 3 1 5 2007-07-24 Q6NZ36 FAP20_HUMAN FAAP20 Fanconi anemia core complex-associated protein 20 180 19.9 1 Nucleus; Chromosome 0 0 3 1 5 2008-02-05 Q6PI26 SHQ1_HUMAN SHQ1 Protein SHQ1 homolog 577 65.1 3 Cytoplasm; Nucleus 0 2 Dystonia 35, childhood-onset; Neurodevelopmental disorder with dystonia and seizures 3 1 5 2007-09-11 Q6PIF6 MYO7B_HUMAN MYO7B Unconventional myosin-VIIb 2116 241.6 2 Cytoplasm; Cell projection 0 0 3 1 5 2008-04-08 Q6PJG2 MDEAS_HUMAN MIDEAS Mitotic deacetylase-associated SANT domain protein 1045 115 14 Nucleus 0 0 3 1 5 2006-11-28 Q6UWB1 I27RA_HUMAN IL27RA Interleukin-27 receptor subunit alpha 636 69.5 19 Membrane 1 1 Immunodeficiency 134 (Epstein-Barr virus-specific) 3 1 5 2005-03-29 Q6VVX0 CP2R1_HUMAN CYP2R1 Vitamin D 25-hydroxylase 501 57.4 11 1.14.14.24 Endoplasmic reticulum membrane; Microsome membrane 0 1 Rickets vitamin D-dependent 1B 3 1 5 2005-03-29 Q6Y7W6 GGYF2_HUMAN GIGYF2 GRB10-interacting GYF protein 2 1299 150.1 2 0 1 Parkinson disease 11 3 1 5 2007-01-09 Q6ZMT1 STAC2_HUMAN STAC2 SH3 and cysteine-rich domain-containing protein 2 411 45 17 Cytoplasm; Cell membrane; Membrane raft 0 0 3 1 5 2007-02-06 Q7Z3K3 POGZ_HUMAN POGZ Pogo transposable element with ZNF domain 1410 155.3 1 Nucleus; Chromosome; Cytoplasm 0 1 White-Sutton syndrome 3 1 5 2004-04-26 Q7Z5L9 I2BP2_HUMAN IRF2BP2 Interferon regulatory factor 2-binding protein 2 587 61 1 Cytoplasm; Nucleus 0 1 Immunodeficiency, common variable, 14 3 1 5 2008-04-08 Q7Z699 SPRE1_HUMAN SPRED1 Sprouty-related, EVH1 domain-containing protein 1 444 50.5 15 Cell membrane; Membrane; Nucleus 0 1 Legius syndrome 3 1 5 2005-01-04 Q7Z739 YTHD3_HUMAN YTHDF3 YTH domain-containing family protein 3 585 63.9 8 Cytoplasm 0 0 3 1 5 2006-04-04 Q86U42 PABP2_HUMAN PABPN1 Polyadenylate-binding protein 2 306 32.7 14 Nucleus; Cytoplasm; Nucleus speckle 0 1 Oculopharyngeal muscular dystrophy 1 3 1 5 2004-04-13 Q86W42 THOC6_HUMAN THOC6 THO complex subunit 6 341 37.5 16 Nucleus; Nucleus speckle 0 1 Beaulieu-Boycott-Innes syndrome 3 1 5 2006-05-02 Q86WR0 CCD25_HUMAN CCDC25 Coiled-coil domain-containing protein 25 208 24.5 8 Cell membrane; Endomembrane system 1 0 3 1 5 2006-05-02 Q86XP3 DDX42_HUMAN DDX42 ATP-dependent RNA helicase DDX42 938 103 17 3.6.4.13 Cytoplasm; Nucleus 0 0 3 1 5 2007-03-06 Q86XR7 TCAM2_HUMAN TICAM2 TIR domain-containing adapter molecule 2 235 26.9 5 Cytoplasm; Golgi apparatus; Cell membrane; Endoplasmic reticulum; Early endosome membrane; Late endosome membrane; Cell projection 0 0 3 1 5 2008-02-05 Q86YD5 LRAD3_HUMAN LDLRAD3 Low-density lipoprotein receptor class A domain-containing protein 3 345 37.4 11 Cell membrane 1 0 3 1 5 2007-09-11 Q8IWZ8 SUGP1_HUMAN SUGP1 SURP and G-patch domain-containing protein 1 645 72.5 19 Nucleus 0 0 3 1 5 2005-03-15 Q8N4P3 MESH1_HUMAN HDDC3 Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 179 20.3 15 3.1.7.2 0 0 3 1 5 2006-12-12 Q8N5C1 CAHM5_HUMAN CALHM5 Calcium homeostasis modulator protein 5 309 35.2 6 Membrane 4 0 3 1 5 2005-07-05 Q8NA31 TERB1_HUMAN TERB1 Telomere repeats-binding bouquet formation protein 1 727 83.1 16 Chromosome; Nucleus inner membrane 0 1 Spermatogenic failure 60 3 1 5 2008-02-26 Q8NBW4 S38A9_HUMAN SLC38A9 Neutral amino acid transporter 9 561 63.8 5 Lysosome membrane; Late endosome membrane 11 0 3 1 5 2008-04-08 Q8NC60 NOA1_HUMAN NOA1 Nitric oxide-associated protein 1 698 78.5 4 Mitochondrion inner membrane 0 0 3 1 5 2006-04-18 Q8NF91 SYNE1_HUMAN SYNE1 Nesprin-1 8797 1011.1 6 Nucleus outer membrane; Nucleus; Nucleus envelope; Cytoplasm 1 3 Spinocerebellar ataxia, autosomal recessive, 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 3 1 5 2003-04-11 Q8TBE9 NANP_HUMAN NANP N-acylneuraminate-9-phosphatase 248 27.8 20 3.1.3.29 0 0 3 1 5 2003-04-30 Q8TCG2 P4K2B_HUMAN PI4K2B Phosphatidylinositol 4-kinase type 2-beta 481 54.7 4 2.7.1.67 Cytoplasm; Golgi apparatus membrane; Endoplasmic reticulum membrane; Cell membrane; Early endosome membrane 0 0 3 1 5 2007-05-01 Q8TCU5 NMD3A_HUMAN GRIN3A Glutamate receptor ionotropic, NMDA 3A 1115 125.5 9 Cell membrane; Postsynaptic cell membrane; Postsynaptic density 3 0 3 1 5 2004-08-31 Q8WYH8 ING5_HUMAN ING5 Inhibitor of growth protein 5 240 27.8 2 Nucleus; Chromosome 0 0 3 1 5 2005-01-04 Q92506 DHB8_HUMAN HSD17B8 (3R)-3-hydroxyacyl-CoA dehydrogenase 261 27 6 1.1.1.n12 Mitochondrion matrix 0 0 3 1 5 2000-05-30 Q92772 CDKL2_HUMAN CDKL2 Cyclin-dependent kinase-like 2 493 56 4 2.7.11.22 Cytoplasm; Nucleus 0 0 3 1 5 2005-11-22 Q92993 KAT5_HUMAN KAT5 Histone acetyltransferase KAT5 513 58.6 11 2.3.1.48 Nucleus; Chromosome; Cytoplasm 0 1 Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 3 1 5 1998-07-15 Q93074 MED12_HUMAN MED12 Mediator of RNA polymerase II transcription subunit 12 2177 243.1 X Nucleus 0 4 Opitz-Kaveggia syndrome; Intellectual developmental disorder, X-linked, syndromic, Lujan-Fryns type; Ohdo syndrome, X-linked; Hardikar syndrome 3 1 5 1997-11-01 Q969S3 ZN622_HUMAN ZNF622 Cytoplasmic 60S subunit biogenesis factor ZNF622 477 54.3 5 Cytoplasm; Nucleus 0 0 3 1 5 2004-07-19 Q96BZ4 PLD4_HUMAN PLD4 5'-3' exonuclease PLD4 506 55.6 14 3.1.16.1 Lysosome; Endoplasmic reticulum membrane; Golgi apparatus; Nucleus; Early endosome; Cytoplasmic vesicle 1 1 Systemic lupus erythematosus 18 3 1 5 2007-03-20 Q96D46 NMD3_HUMAN NMD3 60S ribosomal export protein NMD3 503 57.6 3 Cytoplasm; Nucleus 0 0 3 1 5 2008-03-18 Q96G74 OTUD5_HUMAN OTUD5 OTU domain-containing protein 5 571 60.6 X 3.4.19.12 Nucleus 0 1 Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 3 1 5 2007-02-20 Q96P66 GP101_HUMAN GPR101 Probable G protein-coupled receptor 101 508 56.7 X Cell membrane 7 1 Pituitary adenoma 2, growth hormone-secreting 3 1 5 2003-10-10 Q96Q11 TRNT1_HUMAN TRNT1 CCA tRNA nucleotidyltransferase 1, mitochondrial 434 50.1 3 2.7.7.72 Mitochondrion; Cytoplasm; Nucleus 0 2 Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; Retinitis pigmentosa and erythrocytic microcytosis 3 1 5 2003-10-03 Q96RD6 PANX2_HUMAN PANX2 Pannexin-2 677 74.4 22 Cell membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane 4 0 3 1 5 2002-01-23 Q99547 MPH6_HUMAN MPHOSPH6 M-phase phosphoprotein 6 160 19 16 Nucleus; Cytoplasm 0 0 3 1 5 2000-05-30 Q99726 ZNT3_HUMAN SLC30A3 Probable proton-coupled zinc antiporter SLC30A3 388 41.9 2 Cytoplasmic vesicle; Synapse; Late endosome membrane; Lysosome membrane 6 0 3 1 5 2000-05-30 Q99757 THIOM_HUMAN TXN2 Thioredoxin, mitochondrial 166 18.4 22 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 29 3 1 5 1998-12-15 Q9BPZ3 PAIP2_HUMAN PAIP2 Polyadenylate-binding protein-interacting protein 2 127 15 5 Cytoplasm 0 0 3 1 5 2004-04-13 Q9BQQ3 GORS1_HUMAN GORASP1 Golgi reassembly-stacking protein 1 440 46.5 3 Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane 0 0 3 1 5 2004-08-16 Q9BQS8 FYCO1_HUMAN FYCO1 FYVE and coiled-coil domain-containing protein 1 1478 167 3 Cytoplasmic vesicle; Endosome; Lysosome 0 1 Cataract 18 3 1 5 2006-07-11 Q9BRG1 VPS25_HUMAN VPS25 Vacuolar protein-sorting-associated protein 25 176 20.7 17 Cytoplasm; Endosome membrane; Nucleus 0 0 3 1 5 2005-08-30 Q9BRR9 RHG09_HUMAN ARHGAP9 Rho GTPase-activating protein 9 750 83.3 12 0 0 3 1 5 2004-05-10 Q9BRS8 LARP6_HUMAN LARP6 La-related protein 6 491 54.7 15 Cytoplasm; Nucleus 0 0 3 1 5 2007-03-20 Q9BU19 ZN692_HUMAN ZNF692 Zinc finger protein 692 519 57 1 Nucleus 0 0 3 1 5 2006-05-02 Q9BUA3 SPNDC_HUMAN SPINDOC Spindlin interactor and repressor of chromatin-binding protein 381 41 11 Nucleus; Chromosome 0 0 3 1 5 2008-02-26 Q9BUB5 MKNK1_HUMAN MKNK1 MAP kinase-interacting serine/threonine-protein kinase 1 465 51.3 1 2.7.11.1 Cytoplasm 0 0 3 1 5 2003-04-30 Q9BX63 FANCJ_HUMAN BRIP1 Fanconi anemia group J protein 1249 140.9 17 5.6.2.3 Nucleus; Cytoplasm 0 2 Breast cancer; Fanconi anemia complementation group J 3 1 5 2005-01-04 Q9BY84 DUS16_HUMAN DUSP16 Dual specificity protein phosphatase 16 665 73.1 12 3.1.3.16, 3.1.3.48 Cytoplasm; Nucleus; Cytoplasmic vesicle 0 0 3 1 5 2002-01-23 Q9H0F6 SHRPN_HUMAN SHARPIN Sharpin 387 39.9 8 Cytoplasm; Synapse 0 1 Autoinflammation with episodic fever and immune dysregulation 3 1 5 2007-03-20 Q9H2U1 DHX36_HUMAN DHX36 ATP-dependent DNA/RNA helicase DHX36 1008 114.8 3 3.6.4.12, 3.6.4.13 Nucleus; Cytoplasm; Nucleus speckle; Chromosome; Mitochondrion; Perikaryon; Cell projection 0 0 3 1 5 2006-07-25 Q9HB20 PKHA3_HUMAN PLEKHA3 Pleckstrin homology domain-containing family A member 3 300 33.9 2 Golgi apparatus 0 0 3 1 5 2004-03-29 Q9HBM6 TAF9B_HUMAN TAF9B Transcription initiation factor TFIID subunit 9B 251 27.6 X Nucleus 0 0 3 1 5 2006-01-24 Q9HBX9 RXFP1_HUMAN RXFP1 Relaxin receptor 1 757 87 4 Cell membrane 7 0 3 1 5 2002-06-06 Q9NP84 TNR12_HUMAN TNFRSF12A Tumor necrosis factor receptor superfamily member 12A 129 13.9 16 Membrane 1 0 3 1 5 2002-05-27 Q9NPH3 IL1AP_HUMAN IL1RAP Interleukin-1 receptor accessory protein 570 65.4 3 3.2.2.6 Cell membrane 1 0 3 1 5 2003-08-22 Q9NQX4 MYO5C_HUMAN MYO5C Unconventional myosin-Vc 1742 202.8 15 0 0 3 1 5 2001-04-27 Q9NSD9 SYFB_HUMAN FARSB Phenylalanine--tRNA ligase beta subunit 589 66.1 2 6.1.1.20 Cytoplasm 0 1 Rajab interstitial lung disease with brain calcifications 1 3 1 5 2000-12-08 Q9NV06 DCA13_HUMAN DCAF13 DDB1- and CUL4-associated factor 13 445 51.4 8 Nucleus 0 0 3 1 5 2007-11-13 Q9NVJ2 ARL8B_HUMAN ARL8B ADP-ribosylation factor-like protein 8B 186 21.5 3 3.6.5.2 Late endosome membrane; Lysosome membrane; Cytoplasm; Cell projection; Synapse; Cytolytic granule membrane; Early endosome membrane 0 0 3 1 5 2006-04-18 Q9NYB5 SO1C1_HUMAN SLCO1C1 Solute carrier organic anion transporter family member 1C1 712 78.7 12 Cell membrane 12 0 3 1 5 2003-01-10 Q9NZ71 RTEL1_HUMAN RTEL1 Regulator of telomere elongation helicase 1 1219 133.7 20 5.6.2.- Nucleus 0 3 Dyskeratosis congenita, autosomal recessive, 5; Dyskeratosis congenita, autosomal dominant, 4; Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3 3 1 5 2003-03-28 Q9P2W7 B3GA1_HUMAN B3GAT1 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 334 38.3 11 2.4.1.135 Golgi apparatus membrane; Secreted 1 0 3 1 5 2001-06-01 Q9UHD8 SEPT9_HUMAN SEPTIN9 Septin-9 586 65.4 17 Cytoplasm 0 1 Hereditary neuralgic amyotrophy 3 1 5 2004-12-21 Q9UHQ4 BAP29_HUMAN BCAP29 B-cell receptor-associated protein 29 241 28.3 7 Endoplasmic reticulum membrane 3 0 3 1 5 2002-11-08 Q9UKT4 FBX5_HUMAN FBXO5 F-box only protein 5 447 50.1 6 Nucleus; Cytoplasm 0 0 3 1 5 2002-11-01 Q9UKT5 FBX4_HUMAN FBXO4 F-box only protein 4 387 44.1 5 Cytoplasm 0 0 3 1 5 2001-09-26 Q9UMX0 UBQL1_HUMAN UBQLN1 Ubiquilin-1 589 62.5 9 Cytoplasm; Nucleus; Endoplasmic reticulum; Cytoplasmic vesicle; Cell membrane 0 0 3 1 5 2004-03-29 Q9Y259 CHKB_HUMAN CHKB Choline/ethanolamine kinase 395 45.3 22 0 1 Muscular dystrophy, congenital, megaconial type 3 1 5 2000-05-30 Q9Y285 SYFA_HUMAN FARSA Phenylalanine--tRNA ligase alpha subunit 508 57.6 19 6.1.1.20 Cytoplasm 0 1 Rajab interstitial lung disease with brain calcifications 2 3 1 5 2000-12-08 Q9Y2X3 NOP58_HUMAN NOP58 Nucleolar protein 58 529 59.6 2 Nucleus 0 0 3 1 5 2001-09-26 Q9Y4P8 WIPI2_HUMAN WIPI2 WD repeat domain phosphoinositide-interacting protein 2 454 49.4 7 Preautophagosomal structure membrane 0 1 Intellectual developmental disorder with short stature and variable skeletal anomalies 3 1 5 2006-01-10 Q9Y5U4 INSI2_HUMAN INSIG2 Insulin-induced gene 2 protein 225 24.8 2 Endoplasmic reticulum membrane 6 0 3 1 5 2007-05-15 Q9Y5U5 TNR18_HUMAN TNFRSF18 Tumor necrosis factor receptor superfamily member 18 241 26 1 Cell membrane 1 0 3 1 5 2001-04-27 Q9Y5W7 SNX14_HUMAN SNX14 Sorting nexin-14 946 110.2 6 Lysosome membrane; Late endosome membrane; Cell projection 2 1 Spinocerebellar ataxia, autosomal recessive, 20 3 1 5 2000-12-01 O00327 BMAL1_HUMAN BMAL1 Basic helix-loop-helix ARNT-like protein 1 626 68.8 11 Nucleus; Cytoplasm 0 0 3 1 5 1998-12-15 O00410 IPO5_HUMAN IPO5 Importin-5 1097 123.6 13 Cytoplasm; Nucleus 0 0 3 1 5 1997-11-01 O00566 MPP10_HUMAN MPHOSPH10 U3 small nucleolar ribonucleoprotein protein MPP10 681 78.9 2 Nucleus; Chromosome 0 0 3 1 5 2000-05-30 O00567 NOP56_HUMAN NOP56 Nucleolar protein 56 594 66.1 20 Nucleus; Cytoplasm 0 1 Spinocerebellar ataxia 36 3 1 5 1997-11-01 O14529 CUX2_HUMAN CUX2 Homeobox protein cut-like 2 1486 161.7 12 Nucleus 0 1 Developmental and epileptic encephalopathy 67 3 1 5 2001-04-27 O14656 TOR1A_HUMAN TOR1A Torsin-1A 332 37.8 9 Endoplasmic reticulum lumen; Nucleus membrane; Cell projection; Cytoplasmic vesicle membrane; Cytoplasmic vesicle; Cytoplasm 0 2 Dystonia 1, torsion, autosomal dominant; Arthrogryposis multiplex congenita 5 3 1 5 2001-04-27 O14929 HAT1_HUMAN HAT1 Histone acetyltransferase type B catalytic subunit 419 49.5 2 2.3.1.48 Nucleus matrix; Mitochondrion 0 0 3 1 5 1998-07-15 O15020 SPTN2_HUMAN SPTBN2 Spectrin beta chain, non-erythrocytic 2 2390 271.3 11 Cytoplasm 0 2 Spinocerebellar ataxia 5; Spinocerebellar ataxia, autosomal recessive, 14 3 1 5 2001-11-16 O15217 GSTA4_HUMAN GSTA4 Glutathione S-transferase A4 222 25.7 6 2.5.1.18 Cytoplasm 0 0 3 1 5 1999-07-15 O15431 COPT1_HUMAN SLC31A1 High affinity copper uptake protein 1 190 21.1 9 Cell membrane; Early endosome membrane; Recycling endosome membrane; Apical cell membrane; Late endosome membrane; Basolateral cell membrane 3 1 Neurodegeneration and seizures due to copper transport defect 3 1 5 2001-01-11 O60242 AGRB3_HUMAN ADGRB3 Adhesion G protein-coupled receptor B3 1522 171.5 6 Cell membrane 7 0 3 1 5 2000-12-01 O60669 MOT2_HUMAN SLC16A7 Monocarboxylate transporter 2 478 52.2 12 Cell membrane; Basolateral cell membrane; Cytoplasm 12 0 3 1 5 2000-05-30 O60927 PP1RB_HUMAN PPP1R11 E3 ubiquitin-protein ligase PPP1R11 126 14 6 2.3.2.27 0 0 3 1 5 2006-06-13 O75398 DEAF1_HUMAN DEAF1 Deformed epidermal autoregulatory factor 1 homolog 565 59.3 11 Nucleus; Cytoplasm 0 2 Vulto-van Silfout-de Vries syndrome; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 3 1 5 2002-08-13 O75477 ERLN1_HUMAN ERLIN1 Erlin-1 348 39.2 10 Endoplasmic reticulum membrane 1 1 Spastic paraplegia 62, autosomal recessive 3 1 5 2005-06-07 O75691 UTP20_HUMAN UTP20 Small subunit processome component 20 homolog 2785 318.4 12 Nucleus 0 0 3 1 5 2005-04-12 O94766 B3GA3_HUMAN B3GAT3 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 335 37.1 11 2.4.1.135 Golgi apparatus membrane; Golgi apparatus 1 1 Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 3 1 5 2001-06-01 O94811 TPPP_HUMAN TPPP Tubulin polymerization-promoting protein 219 23.7 5 3.6.5.- Golgi outpost; Cytoplasm; Nucleus 0 0 3 1 5 2003-02-12 O94826 TOM70_HUMAN TOMM70 Mitochondrial import receptor subunit TOM70 608 67.5 3 Mitochondrion outer membrane 1 0 3 1 5 2001-06-01 O95045 UPP2_HUMAN UPP2 Uridine phosphorylase 2 317 35.5 2 2.4.2.3 0 0 3 1 5 2003-10-03 O95218 ZRAB2_HUMAN ZRANB2 Zinc finger Ran-binding domain-containing protein 2 330 37.4 1 Nucleus 0 0 3 1 5 2001-01-24 O95633 FSTL3_HUMAN FSTL3 Follistatin-related protein 3 263 27.7 19 Secreted 0 0 3 1 5 2002-10-10 O95644 NFAC1_HUMAN NFATC1 Nuclear factor of activated T-cells, cytoplasmic 1 943 101.2 18 Cytoplasm; Nucleus 0 0 3 1 5 2000-12-01 O95785 WIZ_HUMAN WIZ Protein Wiz 1651 178.7 19 Nucleus 0 0 3 1 5 2007-05-01 P01222 TSHB_HUMAN TSHB Thyrotropin subunit beta 138 15.6 1 Secreted 0 1 Hypothyroidism, congenital, non-goitrous, 4 3 1 5 1986-07-21 P01588 EPO_HUMAN EPO Erythropoietin 193 21.3 7 Secreted 0 3 Microvascular complications of diabetes 2; Erythrocytosis, familial, 5; Diamond-Blackfan anemia-like 3 1 5 1986-07-21 P02775 CXCL7_HUMAN PPBP Platelet basic protein 128 13.9 4 Secreted 0 0 3 1 5 1986-07-21 P08949 NMB_HUMAN NMB Neuromedin-B 121 13.3 15 Secreted; Cell projection 0 0 3 1 5 1988-11-01 P10114 RAP2A_HUMAN RAP2A Ras-related protein Rap-2a 183 20.6 13 3.6.5.2 Midbody; Cell projection; Golgi apparatus; Recycling endosome membrane; Lysosome 0 0 3 1 5 1989-07-01 P12074 CX6A1_HUMAN COX6A1 Cytochrome c oxidase subunit 6A1, mitochondrial 109 12.2 12 Mitochondrion inner membrane 1 1 Charcot-Marie-Tooth disease, recessive intermediate D 3 1 5 1989-10-01 P14151 LYAM1_HUMAN SELL L-selectin 372 42.2 1 Cell membrane 1 0 3 1 5 1990-01-01 P18505 GBRB1_HUMAN GABRB1 Gamma-aminobutyric acid receptor subunit beta-1 474 54.2 4 Postsynaptic cell membrane; Cell membrane 4 1 Developmental and epileptic encephalopathy 45 3 1 5 1990-11-01 P25713 MT3_HUMAN MT3 Metallothionein-3 68 6.9 16 0 0 3 1 5 1992-05-01 P26641 EF1G_HUMAN EEF1G Elongation factor 1-gamma 437 50.1 11 0 0 3 1 5 1992-08-01 P30273 FCERG_HUMAN FCER1G High affinity immunoglobulin epsilon receptor subunit gamma 86 9.7 1 Cell membrane 1 0 3 1 5 1993-04-01 P31371 FGF9_HUMAN FGF9 Fibroblast growth factor 9 208 23.4 13 Secreted 0 1 Multiple synostoses syndrome 3 3 1 5 1993-07-01 P32745 SSR3_HUMAN SSTR3 Somatostatin receptor type 3 418 45.8 22 Cell membrane 7 0 3 1 5 1993-10-01 P35869 AHR_HUMAN AHR Aryl hydrocarbon receptor 848 96.1 7 Cytoplasm; Nucleus 0 2 Retinitis pigmentosa 85; Foveal hypoplasia 3 3 1 5 1994-06-01 P37088 SCNNA_HUMAN SCNN1A Epithelial sodium channel subunit alpha 669 75.7 12 Apical cell membrane; Cell projection; Cytoplasmic granule; Cytoplasm; Cytoplasmic vesicle 2 3 Pseudohypoaldosteronism 1B1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 3 1 5 1994-10-01 P43308 SSRB_HUMAN SSR2 Translocon-associated protein subunit beta 183 20.1 1 Endoplasmic reticulum membrane 1 0 3 1 5 1995-11-01 P46952 3HAO_HUMAN HAAO 3-hydroxyanthranilate 3,4-dioxygenase 286 32.6 2 1.13.11.6 Cytoplasm 0 1 Vertebral, cardiac, renal, and limb defects syndrome 1 3 1 5 1995-11-01 P48065 S6A12_HUMAN SLC6A12 Sodium- and chloride-dependent betaine transporter 614 69.4 12 Basolateral cell membrane; Cell membrane 12 0 3 1 5 1996-02-01 P49796 RGS3_HUMAN RGS3 Regulator of G protein signaling 3 1198 132.3 9 Cytoplasm; Nucleus; Cell membrane 0 0 3 1 5 1996-10-01 P51460 INSL3_HUMAN INSL3 Insulin-like 3 131 14.5 19 Secreted 0 1 Cryptorchidism 3 1 5 1996-10-01 P51513 NOVA1_HUMAN NOVA1 RNA-binding protein Nova-1 507 51.7 14 Nucleus 0 0 3 1 5 1996-10-01 P51571 SSRD_HUMAN SSR4 Translocon-associated protein subunit delta 173 19 X Endoplasmic reticulum membrane 1 1 Congenital disorder of glycosylation 1Y 3 1 5 1996-10-01 P53621 COPA_HUMAN COPA Coatomer subunit alpha 1224 138.3 1 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle 0 1 Autoinflammation and autoimmunity, systemic, with immune dysregulation 1 3 1 5 1996-10-01 P55084 ECHB_HUMAN HADHB Trifunctional enzyme subunit beta, mitochondrial 474 51.3 2 Mitochondrion; Mitochondrion inner membrane; Mitochondrion outer membrane; Endoplasmic reticulum 0 1 Mitochondrial trifunctional protein deficiency 2 3 1 5 1996-10-01 P55786 PSA_HUMAN NPEPPS Puromycin-sensitive aminopeptidase 919 103.3 17 3.4.11.14 Cytoplasm; Nucleus 0 0 3 1 5 1997-11-01 P60508 SYCY2_HUMAN ERVFRD-1 Syncytin-2 538 59.5 6 Virion 1 0 3 1 5 2004-03-01 P61225 RAP2B_HUMAN RAP2B Ras-related protein Rap-2b 183 20.5 3 3.6.5.2 Recycling endosome membrane 0 0 3 1 5 2004-05-10 P61599 NAA20_HUMAN NAA20 N-alpha-acetyltransferase 20 178 20.4 20 2.3.1.254 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 73 3 1 5 2004-05-24 P78317 RNF4_HUMAN RNF4 E3 ubiquitin-protein ligase RNF4 190 21.3 4 2.3.2.27 Cytoplasm; Nucleus 0 0 3 1 5 2001-10-18 Q04917 1433F_HUMAN YWHAH 14-3-3 protein eta 246 28.2 22 0 0 3 1 5 1993-10-01 Q06481 APLP2_HUMAN APLP2 Amyloid beta precursor like protein 2 763 87 11 Cell membrane; Nucleus 1 0 3 1 5 1994-06-01 Q07654 TFF3_HUMAN TFF3 Trefoil factor 3 80 8.6 21 Secreted; Cytoplasm 0 0 3 1 5 1994-10-01 Q08289 CACB2_HUMAN CACNB2 Voltage-dependent L-type calcium channel subunit beta-2 660 73.6 10 Cell membrane 0 1 Brugada syndrome 4 3 1 5 1994-10-01 Q12918 KLRB1_HUMAN KLRB1 Killer cell lectin-like receptor subfamily B member 1 225 25.4 12 Membrane 1 0 3 1 5 2006-11-14 Q13077 TRAF1_HUMAN TRAF1 TNF receptor-associated factor 1 416 46.2 9 Cytoplasm 0 0 3 1 5 2000-05-30 Q13351 KLF1_HUMAN KLF1 Krueppel-like factor 1 362 38.2 19 Nucleus 0 2 Anemia, congenital dyserythropoietic, 4A; Anemia, congenital dyserythropoietic, 4B 3 1 5 1997-11-01 Q13825 AUHM_HUMAN AUH Methylglutaconyl-CoA hydratase, mitochondrial 339 35.6 9 4.2.1.18 Mitochondrion 0 1 3-methylglutaconic aciduria 1 3 1 5 2003-09-26 Q13885 TBB2A_HUMAN TUBB2A Tubulin beta-2A chain 445 49.9 6 Cytoplasm 0 1 Cortical dysplasia, complex, with other brain malformations 5 3 1 5 2006-11-28 Q14008 CKAP5_HUMAN CKAP5 Cytoskeleton-associated protein 5 2032 225.5 11 Cytoplasm; Chromosome 0 0 3 1 5 1998-07-15 Q14011 CIRBP_HUMAN CIRBP Cold-inducible RNA-binding protein 172 18.6 19 Nucleus; Cytoplasm 0 0 3 1 5 1999-07-15 Q14677 EPN4_HUMAN CLINT1 Clathrin interactor 1 625 68.3 5 Cytoplasm; Membrane; Cytoplasmic vesicle 0 0 3 1 5 2004-01-16 Q14BN4 SLMAP_HUMAN SLMAP Sarcolemmal membrane-associated protein 828 95.2 3 Cell membrane; Cytoplasm 2 0 3 1 5 2006-10-31 Q16348 S15A2_HUMAN SLC15A2 Solute carrier family 15 member 2 729 81.8 3 Apical cell membrane; Cytoplasmic vesicle; Cell membrane 12 0 3 1 5 1997-11-01 Q16576 RBBP7_HUMAN RBBP7 Histone-binding protein RBBP7 425 47.8 X Nucleus 0 1 Spermatogenic failure, X-linked, 9 3 1 5 1997-11-01 Q16831 UPP1_HUMAN UPP1 Uridine phosphorylase 1 310 33.9 7 2.4.2.3 0 0 3 1 5 1997-11-01 Q17RY0 CPEB4_HUMAN CPEB4 Cytoplasmic polyadenylation element-binding protein 4 729 80.2 5 Cytoplasm; Cell projection; Postsynaptic density; Endoplasmic reticulum 0 0 3 1 5 2006-12-12 Q53GS7 GLE1_HUMAN GLE1 mRNA export factor GLE1 698 79.8 9 Nucleus; Cytoplasm 0 2 Lethal congenital contracture syndrome 1; Congenital arthrogryposis with anterior horn cell disease 3 1 5 2005-12-06 Q5D1E8 ZC12A_HUMAN ZC3H12A Endoribonuclease ZC3H12A 599 65.7 1 3.1.-.- Nucleus; Cytoplasm; Rough endoplasmic reticulum membrane; Cytoplasmic granule 0 0 3 1 5 2008-06-10 Q5QGZ9 CL12A_HUMAN CLEC12A C-type lectin domain family 12 member A 265 30.8 12 Cell membrane 1 0 3 1 5 2008-01-15 Q5QJE6 TDIF2_HUMAN DNTTIP2 Deoxynucleotidyltransferase terminal-interacting protein 2 756 84.5 1 Nucleus 0 0 3 1 5 2008-02-05 Q5SRE5 NU188_HUMAN NUP188 Nucleoporin NUP188 1749 196 9 Nucleus 0 1 Sandestig-Stefanova syndrome 3 1 5 2007-09-11 Q5TKA1 LIN9_HUMAN LIN9 Protein lin-9 homolog 542 61.9 1 Nucleus 0 0 3 1 5 2006-09-19 Q6BDI9 REP15_HUMAN REP15 Rab15 effector protein 236 26.6 12 Early endosome membrane 0 0 3 1 5 2008-03-18 Q6I9Y2 THOC7_HUMAN THOC7 THO complex subunit 7 204 23.7 3 Cytoplasm; Nucleus; Nucleus speckle 0 0 3 1 5 2007-11-13 Q6KC79 NIPBL_HUMAN NIPBL Nipped-B-like protein 2804 316.1 5 Nucleus; Chromosome 0 1 Cornelia de Lange syndrome 1 3 1 5 2004-07-19 Q6P587 FAHD1_HUMAN FAHD1 Oxaloacetate tautomerase FAHD1, mitochondrial 221 24.5 16 5.3.2.2 Mitochondrion; Cytoplasm 0 0 3 1 5 2005-05-10 Q6P5Q4 LMOD2_HUMAN LMOD2 Leiomodin-2 547 61.7 7 Cytoplasm 0 1 Cardiomyopathy, dilated, 2G 3 1 5 2007-11-13 Q6P9B6 MEAK7_HUMAN MEAK7 MTOR-associated protein MEAK7 456 51 16 Membrane; Cytoplasm; Lysosome 0 0 3 1 5 2008-01-15 Q6PHW0 IYD1_HUMAN IYD Iodotyrosine deiodinase 1 289 33.4 6 1.21.1.1 Cell membrane; Cytoplasmic vesicle membrane 1 1 Thyroid dyshormonogenesis 4 3 1 5 2006-04-04 Q6UVK1 CSPG4_HUMAN CSPG4 Chondroitin sulfate proteoglycan 4 2322 250.5 15 Cell membrane; Apical cell membrane; Cell projection; Cell surface 1 0 3 1 5 2005-09-13 Q6UXT8 ALKL1_HUMAN ALKAL1 ALK and LTK ligand 1 129 14.3 8 Secreted; Cell membrane 0 0 3 1 5 2008-02-05 Q6ZMG9 CERS6_HUMAN CERS6 Ceramide synthase 6 384 44.9 2 2.3.1.- Endoplasmic reticulum membrane 7 0 3 1 5 2004-08-16 Q7Z4G1 COMD6_HUMAN COMMD6 COMM domain-containing protein 6 85 9.6 13 Nucleus; Cytoplasm 0 0 3 1 5 2004-08-16 Q7Z4W1 DCXR_HUMAN DCXR L-xylulose reductase 244 25.9 17 1.1.1.10 Apical cell membrane; Cytoplasmic vesicle 0 1 Pentosuria 3 1 5 2004-07-19 Q7Z589 EMSY_HUMAN EMSY BRCA2-interacting transcriptional repressor EMSY 1322 141.5 11 Nucleus 0 0 3 1 5 2004-05-24 Q7Z5K2 WAPL_HUMAN WAPL Wings apart-like protein homolog 1190 132.9 10 Nucleus; Chromosome; Cytoplasm 0 0 3 1 5 2006-07-11 Q86UU0 BCL9L_HUMAN BCL9L B-cell CLL/lymphoma 9-like protein 1499 157.1 11 Nucleus 0 0 3 1 5 2008-01-15 Q86V20 SHLD2_HUMAN SHLD2 Shieldin complex subunit 2 835 93.7 10 Nucleus; Chromosome 0 0 3 1 5 2005-11-22 Q86VN1 VPS36_HUMAN VPS36 Vacuolar protein-sorting-associated protein 36 386 43.8 13 Cytoplasm; Endosome; Late endosome; Membrane; Nucleus 0 0 3 1 5 2005-08-30 Q86YS6 RAB43_HUMAN RAB43 Ras-related protein Rab-43 212 23.3 3 Golgi apparatus; Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cytoplasmic vesicle 0 0 3 1 5 2006-06-27 Q8IUH5 ZDH17_HUMAN ZDHHC17 Palmitoyltransferase ZDHHC17 632 72.6 12 2.3.1.225 Golgi apparatus membrane; Cytoplasmic vesicle membrane; Presynaptic cell membrane 6 0 3 1 5 2004-04-13 Q8IZD2 KMT2E_HUMAN KMT2E Histone reader KMT2E 1858 205 7 Chromosome; Cytoplasm; Nucleus speckle 0 1 O'Donnell-Luria-Rodan syndrome 3 1 5 2008-06-10 Q8N6P7 I22R1_HUMAN IL22RA1 Interleukin-22 receptor subunit alpha-1 574 63.1 1 Cell membrane 1 0 3 1 5 2008-03-18 Q8NI08 NCOA7_HUMAN NCOA7 Nuclear receptor coactivator 7 942 106.2 6 Nucleus; Cytoplasm; Golgi apparatus 0 0 3 1 5 2006-07-11 Q8TBZ3 WDR20_HUMAN WDR20 WD repeat-containing protein 20 569 62.9 14 Cytoplasm; Nucleus 0 0 3 1 5 2003-02-12 Q8TC59 PIWL2_HUMAN PIWIL2 Piwi-like protein 2 973 109.8 8 3.1.26.- Cytoplasm 0 0 3 1 5 2006-05-16 Q8WV22 NSE1_HUMAN NSMCE1 Non-structural maintenance of chromosomes element 1 homolog 266 30.9 16 2.3.2.27 Nucleus; Chromosome 0 0 3 1 5 2007-01-09 Q8WXH0 SYNE2_HUMAN SYNE2 Nesprin-2 6885 796.4 14 Nucleus outer membrane; Sarcoplasmic reticulum membrane; Cell membrane; Cytoplasm; Mitochondrion; Nucleus 1 1 Emery-Dreifuss muscular dystrophy 5, autosomal dominant 3 1 5 2003-04-11 Q92730 RND1_HUMAN RND1 Rho-related GTP-binding protein Rho6 232 26.1 12 3.6.5.2 Cell membrane; Cytoplasm 0 0 3 1 5 1997-11-01 Q92844 TANK_HUMAN TANK TRAF family member-associated NF-kappa-B activator 425 47.8 2 Cytoplasm 0 0 3 1 5 2001-06-01 Q92932 PTPR2_HUMAN PTPRN2 Receptor-type tyrosine-protein phosphatase N2 1015 111.3 7 3.1.3.-, 3.1.3.48 Cytoplasmic vesicle 1 0 3 1 5 1997-11-01 Q969V3 NCLN_HUMAN NCLN BOS complex subunit NCLN 563 63 19 Endoplasmic reticulum membrane 1 0 3 1 5 2005-06-21 Q969V5 MUL1_HUMAN MUL1 Mitochondrial ubiquitin ligase activator of NFKB 1 352 39.8 1 2.3.2.27 Mitochondrion outer membrane; Peroxisome 2 0 3 1 5 2007-02-20 Q96EQ8 RN125_HUMAN RNF125 E3 ubiquitin-protein ligase RNF125 232 26.5 18 2.3.2.27 Golgi apparatus membrane 0 1 Tenorio syndrome 3 1 5 2005-08-30 Q96FT9 IFT43_HUMAN IFT43 Intraflagellar transport protein 43 homolog 208 23.5 14 Cytoplasm; Cell projection 0 3 Cranioectodermal dysplasia 3; Retinitis pigmentosa 81; Short-rib thoracic dysplasia 18 with polydactyly 3 1 5 2006-10-31 Q96HI0 SENP5_HUMAN SENP5 Sentrin-specific protease 5 755 86.7 3 3.4.22.- Nucleus 0 0 3 1 5 2002-11-28 Q96J92 WNK4_HUMAN WNK4 Serine/threonine-protein kinase WNK4 1243 134.7 17 2.7.11.1 Cell junction 0 1 Pseudohypoaldosteronism 2B 3 1 5 2004-02-02 Q96Q77 CIB3_HUMAN CIB3 Calcium and integrin-binding family member 3 187 21.8 19 0 0 3 1 5 2004-06-07 Q99678 GPR20_HUMAN GPR20 G protein-coupled receptor 20 358 38.7 8 Cell membrane 7 0 3 1 5 1997-11-01 Q99697 PITX2_HUMAN PITX2 Pituitary homeobox 2 317 35.4 4 Nucleus; Cytoplasm 0 3 Axenfeld-Rieger syndrome 1; Anterior segment dysgenesis 4; Ring dermoid of cornea 3 1 5 1998-07-15 Q9BQB4 SOST_HUMAN SOST Sclerostin 213 24 17 Secreted 0 3 Sclerosteosis 1; Van Buchem disease; Craniodiaphyseal dysplasia autosomal dominant 3 1 5 2002-03-05 Q9BT04 FUZZY_HUMAN FUZ Protein fuzzy homolog 418 45.7 19 Cytoplasm 0 0 3 1 5 2008-01-15 Q9BWV1 BOC_HUMAN BOC Brother of CDO 1114 121.1 3 Cell membrane 1 0 3 1 5 2006-05-02 Q9BZE9 ASPC1_HUMAN ASPSCR1 Tether containing UBX domain for GLUT4 553 60.2 17 Endomembrane system; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cytoplasm; Nucleus 0 0 3 1 5 2006-09-19 Q9GZQ4 NMUR2_HUMAN NMUR2 Neuromedin-U receptor 2 415 47.7 5 Cell membrane 7 0 3 1 5 2005-12-06 Q9H095 DRC9_HUMAN DRC9 Dynein regulatory complex protein 9 443 51.9 3 Cytoplasm; Cell projection 0 0 3 1 5 2007-04-03 Q9H0J9 PAR12_HUMAN PARP12 Protein mono-ADP-ribosyltransferase PARP12 701 79.1 7 2.4.2.- Nucleus; Golgi apparatus; Cytoplasm 0 0 3 1 5 2004-05-10 Q9H0Z9 RBM38_HUMAN RBM38 RNA-binding protein 38 239 25.5 20 Cytoplasm; Nucleus 0 0 3 1 5 2003-02-01 Q9H4G4 GAPR1_HUMAN GLIPR2 Golgi-associated plant pathogenesis-related protein 1 154 17.2 9 Golgi apparatus membrane 0 0 3 1 5 2004-03-29 Q9H4Y5 GSTO2_HUMAN GSTO2 Glutathione S-transferase omega-2 243 28.3 10 2.5.1.18 0 0 3 1 5 2003-09-19 Q9H5X1 CIA2A_HUMAN CIAO2A Cytosolic iron-sulfur assembly component 2A 160 18.4 15 Cytoplasm 0 0 3 1 5 2002-05-02 Q9H694 BICC1_HUMAN BICC1 Protein bicaudal C homolog 1 974 104.8 10 Cytoplasm 0 1 Renal dysplasia, cystic 3 1 5 2006-12-12 Q9H814 PHAX_HUMAN PHAX Phosphorylated adapter RNA export protein 394 44.4 5 Nucleus; Cytoplasm 0 0 3 1 5 2006-06-13 Q9H8H0 NOL11_HUMAN NOL11 Nucleolar protein 11 719 81.1 17 Nucleus 0 0 3 1 5 2005-08-30 Q9H8V3 ECT2_HUMAN ECT2 Protein ECT2 914 103.5 3 Nucleus; Cytoplasm; Cleavage furrow; Midbody; Cell junction 0 0 3 1 5 2001-09-26 Q9HBI1 PARVB_HUMAN PARVB Beta-parvin 364 41.7 22 Cell junction; Cell membrane; Cytoplasm; Cell projection 0 0 3 1 5 2002-01-23 Q9NP98 MYOZ1_HUMAN MYOZ1 Myozenin-1 299 31.7 10 Nucleus; Cell projection 0 0 3 1 5 2005-11-22 Q9NQB0 TF7L2_HUMAN TCF7L2 Transcription factor 7-like 2 619 67.9 10 Nucleus 0 1 Type 2 diabetes mellitus 3 1 5 2003-03-25 Q9NRW1 RAB6B_HUMAN RAB6B Ras-related protein Rab-6B 208 23.5 3 3.6.5.2 Golgi apparatus membrane; Endoplasmic reticulum-Golgi intermediate compartment; Cytoplasmic vesicle 0 0 3 1 5 2001-04-27 Q9NSA1 FGF21_HUMAN FGF21 Fibroblast growth factor 21 209 22.3 19 Secreted 0 0 3 1 5 2001-04-27 Q9NSN8 SNTG1_HUMAN SNTG1 Gamma-1-syntrophin 517 58 8 Cytoplasm; Nucleus 0 0 3 1 5 2002-10-10 Q9NTX7 RN146_HUMAN RNF146 E3 ubiquitin-protein ligase RNF146 359 39 6 2.3.2.27 Cytoplasm; Nucleus 0 0 3 1 5 2005-03-01 Q9NY37 ASIC5_HUMAN ASIC5 Bile acid-sensitive ion channel 505 57.5 4 Apical cell membrane; Cell membrane 2 0 3 1 5 2008-05-20 Q9NZA1 CLIC5_HUMAN CLIC5 Chloride intracellular channel protein 5 410 46.5 6 Cytoplasm; Membrane; Apical cell membrane; Mitochondrion; Cell projection 1 1 Deafness, autosomal recessive, 103 3 1 5 2002-03-27 Q9P0T7 TMEM9_HUMAN TMEM9 Proton-transporting V-type ATPase complex assembly regulator TMEM9 183 20.6 1 Lysosome membrane; Late endosome membrane; Endosome 1 0 3 1 5 2002-05-10 Q9P2D1 CHD7_HUMAN CHD7 ATP-dependent chromatin remodeler CHD7 2997 335.9 8 3.6.4.- Nucleus 0 3 CHARGE syndrome; Scoliosis, isolated, 3; Hypogonadotropic hypogonadism 5 with or without anosmia 3 1 5 2002-09-19 Q9P2T1 GMPR2_HUMAN GMPR2 GMP reductase 2 348 37.9 14 1.7.1.7 0 0 3 1 5 2002-11-08 Q9P2Y5 UVRAG_HUMAN UVRAG UV radiation resistance-associated gene protein 699 78.2 11 Late endosome; Lysosome; Cytoplasmic vesicle; Early endosome; Endoplasmic reticulum; Midbody; Chromosome 0 0 3 1 5 2002-01-23 Q9UBI1 COMD3_HUMAN COMMD3 COMM domain-containing protein 3 195 22.2 10 Cytoplasm; Nucleus 0 0 3 1 5 2004-08-16 Q9UKA9 PTBP2_HUMAN PTBP2 Polypyrimidine tract-binding protein 2 531 57.5 1 Nucleus 0 0 3 1 5 2006-04-18 Q9ULK0 GRID1_HUMAN GRID1 Glutamate receptor ionotropic, delta-1 1009 112.1 10 Postsynaptic cell membrane 3 0 3 1 5 2003-11-14 Q9UMY1 UTP16_HUMAN NOL7 U3 small nucleolar RNA-associated protein NOL7 257 29.4 6 Nucleus 0 0 3 1 5 2005-07-19 Q9Y257 KCNK6_HUMAN KCNK6 Potassium channel subfamily K member 6 313 33.7 19 Late endosome membrane; Lysosome membrane 4 0 3 1 5 2001-02-21 Q9Y261 FOXA2_HUMAN FOXA2 Hepatocyte nuclear factor 3-beta 457 48.3 20 Nucleus; Cytoplasm 0 0 3 1 5 2000-05-30 Q9Y2L1 RRP44_HUMAN DIS3 Exosome complex exonuclease RRP44 958 109 13 3.1.13.-, 3.1.26.- Cytoplasm; Nucleus 0 0 3 1 5 2000-05-30 Q9Y2P8 RCL1_HUMAN RCL1 RNA 3'-terminal phosphate cyclase-like protein 373 40.8 9 Nucleus 0 0 3 1 5 2000-12-01 Q9Y2T3 GUAD_HUMAN GDA Guanine deaminase 454 51 9 3.5.4.3 0 0 3 1 5 2000-12-01 Q9Y2U8 MAN1_HUMAN LEMD3 Inner nuclear membrane protein Man1 911 100 12 Nucleus inner membrane 2 1 Buschke-Ollendorff syndrome 3 1 5 2001-04-27 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein FCF1 homolog 198 23.4 14 Nucleus 0 0 3 1 5 2003-09-09 Q9Y3A4 RRP7A_HUMAN RRP7A Ribosomal RNA-processing protein 7 homolog A 280 32.3 22 Nucleus; Cell projection; Cytoplasm 0 1 Microcephaly 28, primary, autosomal recessive 3 1 5 2000-05-30 Q9Y3M8 STA13_HUMAN STARD13 StAR-related lipid transfer protein 13 1113 125 13 Cytoplasm; Membrane; Mitochondrion membrane; Lipid droplet 0 0 3 1 5 2002-11-15 Q9Y570 PPME1_HUMAN PPME1 Protein phosphatase methylesterase 1 386 42.3 11 3.1.1.89 0 0 3 1 5 2004-05-24 Q9Y5U2 TSSC4_HUMAN TSSC4 U5 small nuclear ribonucleoprotein TSSC4 329 34.3 11 Nucleus; Cytoplasm 0 0 3 1 5 2005-12-20 O00257 CBX4_HUMAN CBX4 E3 SUMO-protein ligase CBX4 560 61.4 17 2.3.2.- Cytoplasm; Nucleus; Nucleus speckle 0 0 3 1 5 2001-01-24 O00755 WNT7A_HUMAN WNT7A Protein Wnt-7a 349 39 3 Secreted 0 3 Limb pelvis hypoplasia aplasia syndrome; Fuhrmann syndrome; Santos syndrome 3 1 5 1997-11-01 O14490 DLGP1_HUMAN DLGAP1 Disks large-associated protein 1 977 108.9 18 Cell membrane; Postsynaptic density; Synapse 0 0 3 1 5 2001-09-26 O14672 ADA10_HUMAN ADAM10 Disintegrin and metalloproteinase domain-containing protein 10 748 84.1 15 3.4.24.81 Cell membrane; Golgi apparatus membrane; Cytoplasmic vesicle; Cell projection; Cell junction; Cytoplasm 1 2 Reticulate acropigmentation of Kitamura; Alzheimer disease 18 3 1 5 2003-02-28 O14730 RIOK3_HUMAN RIOK3 Serine/threonine-protein kinase RIO3 519 59.1 18 2.7.11.1 Cytoplasm 0 0 3 1 5 2004-12-07 O15296 LX15B_HUMAN ALOX15B Polyunsaturated fatty acid lipoxygenase ALOX15B 676 75.9 17 Cytoplasm; Cell membrane; Membrane; Cell junction 0 0 3 1 5 2001-01-11 O43739 CYH3_HUMAN CYTH3 Cytohesin-3 400 46.3 7 Cytoplasm; Cell membrane; Cell junction 0 0 3 1 5 2001-02-21 O60907 TBL1X_HUMAN TBL1X F-box-like/WD repeat-containing protein TBL1X 577 62.5 X Nucleus 0 1 Hypothyroidism, congenital, non-goitrous, 8 3 1 5 2001-01-11 O75626 PRDM1_HUMAN PRDM1 PR domain zinc finger protein 1 825 91.8 6 2.1.1.- Nucleus; Cytoplasm 0 0 3 1 5 2002-11-08 O75695 XRP2_HUMAN RP2 Protein XRP2 350 39.6 X Cell membrane; Cell projection 0 1 Retinitis pigmentosa 2 3 1 5 2000-05-30 O75940 SPF30_HUMAN SMNDC1 Survival of motor neuron-related-splicing factor 30 238 26.7 10 Nucleus speckle; Nucleus 0 0 3 1 5 2003-09-26 O76031 CLPX_HUMAN CLPX ATP-dependent clpX-like chaperone, mitochondrial 633 69.2 15 3.6.4.10 Mitochondrion; Mitochondrion matrix 0 1 Protoporphyria, erythropoietic, 2 3 1 5 2000-05-30 O76082 S22A5_HUMAN SLC22A5 Organic cation/carnitine transporter 2 557 62.8 5 Cell membrane; Apical cell membrane; Basal cell membrane 12 1 Systemic primary carnitine deficiency 3 1 5 2000-12-01 O95140 MFN2_HUMAN MFN2 Mitofusin-2 757 86.4 1 3.6.5.- Mitochondrion outer membrane 2 4 Charcot-Marie-Tooth disease, axonal, type 2A2B; Charcot-Marie-Tooth disease, axonal, type 2A2A; Neuropathy, hereditary motor and sensory, 6A, with optic atrophy; Lipomatosis, multiple symmetric, with or without peripheral neuropathy 3 1 5 2004-05-24 O95453 PARN_HUMAN PARN Poly(A)-specific ribonuclease PARN 639 73.5 16 3.1.13.4 Nucleus; Cytoplasm 0 2 Dyskeratosis congenita, autosomal recessive, 6; Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 4 3 1 5 2005-03-01 P01258 CALC_HUMAN CALCA Calcitonin 141 15.5 11 Secreted 0 0 3 1 5 1986-07-21 P01266 THYG_HUMAN TG Thyroglobulin 2768 304.8 8 Secreted 0 2 Thyroid dyshormonogenesis 3; Autoimmune thyroid disease 3 3 1 5 1986-07-21 P01298 PAHO_HUMAN PPY Pancreatic polypeptide prohormone 95 10.4 17 Secreted 0 0 3 1 5 1986-07-21 P01374 TNFB_HUMAN LTA Lymphotoxin-alpha 205 22.3 6 Secreted; Membrane 0 1 Psoriatic arthritis 3 1 5 1986-07-21 P06881 CALCA_HUMAN CALCA Calcitonin gene-related peptide 1 128 13.9 11 Secreted 0 0 3 1 5 1988-01-01 P08243 ASNS_HUMAN ASNS Asparagine synthetase [glutamine-hydrolyzing] 561 64.4 7 3.5.1.2, 6.3.5.4 0 1 Asparagine synthetase deficiency 3 1 5 1988-08-01 P08590 MYL3_HUMAN MYL3 Myosin light chain 3 195 21.9 3 0 1 Cardiomyopathy, familial hypertrophic, 8 3 1 5 1988-08-01 P10644 KAP0_HUMAN PRKAR1A cAMP-dependent protein kinase type I-alpha regulatory subunit 381 43 17 Cell membrane 0 4 Carney complex 1; Intracardiac myxoma; Primary pigmented nodular adrenocortical disease 1; Acrodysostosis 1, with or without hormone resistance 3 1 5 1989-07-01 P11597 CETP_HUMAN CETP Cholesteryl ester transfer protein 493 54.8 16 Secreted 0 1 Hyperalphalipoproteinemia 1 3 1 5 1989-10-01 P14866 HNRPL_HUMAN HNRNPL Heterogeneous nuclear ribonucleoprotein L 589 64.1 19 Nucleus; Cytoplasm 0 0 3 1 5 1990-04-01 P16284 PECA1_HUMAN PECAM1 Platelet endothelial cell adhesion molecule 738 82.5 17 Cell membrane 1 0 3 1 5 1990-04-01 P17813 EGLN_HUMAN ENG Endoglin 658 70.6 9 Cell membrane 1 1 Telangiectasia, hereditary hemorrhagic, 1 3 1 5 1990-08-01 P19086 GNAZ_HUMAN GNAZ Guanine nucleotide-binding protein G(z) subunit alpha 355 40.9 22 Membrane 0 0 3 1 5 1990-11-01 P19256 LFA3_HUMAN CD58 Lymphocyte function-associated antigen 3 250 28.1 1 Cell membrane 1 0 3 1 5 1990-11-01 P19320 VCAM1_HUMAN VCAM1 Vascular cell adhesion protein 1 739 81.3 1 Cell membrane 1 0 3 1 5 1990-11-01 P20337 RAB3B_HUMAN RAB3B Ras-related protein Rab-3B 219 24.8 1 3.6.5.2 Cell membrane; Golgi apparatus 0 0 3 1 5 1991-02-01 P20472 PRVA_HUMAN PVALB Parvalbumin alpha 110 12.1 22 0 0 3 1 5 1991-02-01 P21246 PTN_HUMAN PTN Pleiotrophin 168 18.9 7 Secreted 0 0 3 1 5 1991-05-01 P24311 COX7B_HUMAN COX7B Cytochrome c oxidase subunit 7B, mitochondrial 80 9.2 X Mitochondrion inner membrane 1 1 Linear skin defects with multiple congenital anomalies 2 3 1 5 1992-03-01 P24588 AKAP5_HUMAN AKAP5 A-kinase anchor protein 5 427 47.1 14 Postsynaptic recycling endosome membrane; Cell projection; Postsynaptic cell membrane 0 0 3 1 5 1992-03-01 P25105 PTAFR_HUMAN PTAFR Platelet-activating factor receptor 342 39.2 1 Cell membrane 7 0 3 1 5 1992-05-01 P25490 TYY1_HUMAN YY1 Transcriptional repressor protein YY1 414 44.7 14 Nucleus matrix 0 1 Gabriele-de Vries syndrome 3 1 5 1992-05-01 P27815 PDE4A_HUMAN PDE4A 3',5'-cyclic-AMP phosphodiesterase 4A 886 98.1 19 3.1.4.53 Cytoplasm 0 0 3 1 5 1992-08-01 P30041 PRDX6_HUMAN PRDX6 Peroxiredoxin-6 224 25 1 1.11.1.27 Cytoplasm; Lysosome 0 0 3 1 5 1993-04-01 P30559 OXYR_HUMAN OXTR Oxytocin receptor 389 42.8 3 Cell membrane 7 0 3 1 5 1993-04-01 P30711 GSTT1_HUMAN GSTT1 Glutathione S-transferase theta-1 240 27.3 2.5.1.18 Cytoplasm 0 0 3 1 5 1993-04-01 P30939 5HT1F_HUMAN HTR1F 5-hydroxytryptamine receptor 1F 366 41.7 3 Cell membrane 7 0 3 1 5 1993-07-01 P40225 TPO_HUMAN THPO Thrombopoietin 353 37.8 3 Secreted 0 3 Thrombocythemia 1; Amegakaryocytic thrombocytopenia, congenital, 2; Thrombocytopenia 9 3 1 5 1995-02-01 P40394 ADH7_HUMAN ADH7 All-trans-retinol dehydrogenase [NAD(+)] ADH7 386 41.5 4 1.1.1.105 Cytoplasm 0 0 3 1 5 1995-02-01 P41214 EIF2D_HUMAN EIF2D Eukaryotic translation initiation factor 2D 584 64.7 1 Cytoplasm 0 0 3 1 5 1995-02-01 P41279 M3K8_HUMAN MAP3K8 Mitogen-activated protein kinase kinase kinase 8 467 52.9 10 2.7.11.25 Cytoplasm 0 0 3 1 5 1995-02-01 P42679 MATK_HUMAN MATK Megakaryocyte-associated tyrosine-protein kinase 507 56.5 19 2.7.10.2 Cytoplasm; Membrane 0 0 3 1 5 1995-11-01 P42830 CXCL5_HUMAN CXCL5 C-X-C motif chemokine 5 114 12 4 Secreted 0 0 3 1 5 1995-11-01 P48382 RFX5_HUMAN RFX5 DNA-binding protein RFX5 616 65.3 1 Nucleus 0 2 MHC class II deficiency 3; MHC class II deficiency 5 3 1 5 1996-02-01 P48645 NMU_HUMAN NMU Neuromedin-U 174 19.7 4 Secreted 0 0 3 1 5 1996-02-01 P50549 ETV1_HUMAN ETV1 ETS translocation variant 1 477 55.1 7 Nucleus 0 1 Ewing sarcoma 3 1 5 1996-10-01 P51572 BAP31_HUMAN BCAP31 B-cell receptor-associated protein 31 246 28 X Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane 3 1 Deafness, dystonia, and cerebral hypomyelination 3 1 5 1996-10-01 P54819 KAD2_HUMAN AK2 Adenylate kinase 2, mitochondrial 239 26.5 1 2.7.4.3 Mitochondrion intermembrane space 0 1 Reticular dysgenesis 3 1 5 1996-10-01 P55040 GEM_HUMAN GEM GTP-binding protein GEM 296 33.9 8 Cell membrane 0 0 3 1 5 1996-10-01 P78362 SRPK2_HUMAN SRPK2 SRSF protein kinase 2 688 77.5 7 2.7.11.1 Cytoplasm; Nucleus; Nucleus speckle; Chromosome 0 0 3 1 5 2005-07-05 Q00013 EM55_HUMAN MPP1 55 kDa erythrocyte membrane protein 466 52.3 X Cell membrane; Cell projection 0 0 3 1 5 1992-12-01 Q00796 DHSO_HUMAN SORD Sorbitol dehydrogenase 357 38.3 15 1.1.1.- Mitochondrion membrane; Cell projection 0 1 Neuronopathy, distal hereditary motor, autosomal recessive 8 3 1 5 1993-04-01 Q02487 DSC2_HUMAN DSC2 Desmocollin-2 901 100 18 Cell membrane; Cell junction 1 1 Arrhythmogenic right ventricular dysplasia, familial, 11 3 1 5 1994-02-01 Q03721 KCNC4_HUMAN KCNC4 Voltage-gated potassium channel KCNC4 635 69.8 1 Membrane 6 0 3 1 5 1998-07-15 Q04446 GLGB_HUMAN GBE1 1,4-alpha-glucan-branching enzyme 702 80.5 3 2.4.1.18 0 2 Glycogen storage disease 4; Polyglucosan body neuropathy, adult form 3 1 5 1994-06-01 Q05209 PTN12_HUMAN PTPN12 Tyrosine-protein phosphatase non-receptor type 12 780 88.1 7 3.1.3.48 Cytoplasm; Cell junction; Cell projection 0 0 3 1 5 1994-02-01 Q05516 ZBT16_HUMAN ZBTB16 Zinc finger and BTB domain-containing protein 16 673 74.3 11 Nucleus 0 1 Skeletal defects, genital hypoplasia, and impaired intellectual development 3 1 5 1995-11-01 Q05BQ5 MBTD1_HUMAN MBTD1 MBT domain-containing protein 1 628 70.5 17 Nucleus; Chromosome 0 0 3 1 5 2008-01-15 Q08050 FOXM1_HUMAN FOXM1 Forkhead box protein M1 763 84.3 12 Nucleus 0 0 3 1 5 2000-05-30 Q12849 GRSF1_HUMAN GRSF1 G-rich sequence factor 1 480 53.1 4 Mitochondrion matrix 0 0 3 1 5 1997-11-01 Q13017 RHG05_HUMAN ARHGAP5 Rho GTPase-activating protein 5 1502 172.5 14 Cytoplasm; Cell membrane 0 0 3 1 5 2003-02-28 Q13641 TPBG_HUMAN TPBG Trophoblast glycoprotein 420 46 6 Cell membrane 1 0 3 1 5 2005-08-16 Q13686 ALKB1_HUMAN ALKBH1 Nucleic acid dioxygenase ALKBH1 389 43.8 14 1.14.11.- Nucleus; Mitochondrion 0 0 3 1 5 2000-12-01 Q14005 IL16_HUMAN IL16 Pro-interleukin-16 1332 141.8 15 Secreted 0 0 3 1 5 1997-11-01 Q15063 POSTN_HUMAN POSTN Periostin 836 93.3 13 Golgi apparatus; Secreted 0 0 3 1 5 2004-04-26 Q15154 PCM1_HUMAN PCM1 Pericentriolar material 1 protein 2024 228.6 8 Cytoplasm; Cytoplasmic granule 0 0 3 1 5 2007-01-23 Q15365 PCBP1_HUMAN PCBP1 Poly(rC)-binding protein 1 356 37.5 2 Nucleus; Cytoplasm 0 0 3 1 5 2000-05-30 Q15911 ZFHX3_HUMAN ZFHX3 Zinc finger homeobox protein 3 3703 404.4 16 Nucleus; Cytoplasm 0 3 Atrial fibrillation, familial, 8; Spinocerebellar ataxia 4; Epilepsy, idiopathic generalized 20 3 1 5 2001-10-18 Q16663 CCL15_HUMAN CCL15 C-C motif chemokine 15 113 12.2 17 Secreted 0 0 3 1 5 1997-11-01 Q16698 DECR_HUMAN DECR1 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial 335 36.1 8 1.3.1.124 Mitochondrion 0 1 2,4-dienoyl-CoA reductase deficiency 3 1 5 1998-12-15 Q16851 UGPA_HUMAN UGP2 UTP--glucose-1-phosphate uridylyltransferase 508 56.9 2 2.7.7.9 Cytoplasm 0 1 Developmental and epileptic encephalopathy 83 3 1 5 1999-07-15 Q3KP22 MAJIN_HUMAN MAJIN Membrane-anchored junction protein 176 20.1 11 Nucleus inner membrane; Chromosome 1 0 3 1 5 2008-03-18 Q5VVQ6 OTU1_HUMAN YOD1 Ubiquitin thioesterase OTU1 348 38.3 1 3.4.19.12 Cytoplasm 0 0 3 1 5 2007-04-03 Q5W0Q7 USPL1_HUMAN USPL1 SUMO-specific isopeptidase USPL1 1092 120.4 13 3.4.22.- Nucleus 0 0 3 1 5 2007-03-06 Q63ZY3 KANK2_HUMAN KANK2 KN motif and ankyrin repeat domain-containing protein 2 851 91.2 19 Cytoplasm; Mitochondrion 0 2 Palmoplantar keratoderma and woolly hair; Nephrotic syndrome 16 3 1 5 2006-06-27 Q68EN5 MACA1_HUMAN MATCAP1 Microtubule-associated tyrosine carboxypeptidase 1 471 53.4 16 3.4.17.17 Cytoplasm 0 0 3 1 5 2008-02-26 Q69YN4 VIR_HUMAN VIRMA Protein virilizer homolog 1812 202 8 Nucleus speckle; Nucleus; Cytoplasm 0 0 3 1 5 2007-10-23 Q6GQQ9 OTU7B_HUMAN OTUD7B OTU domain-containing protein 7B 843 92.5 1 3.4.19.12 Cytoplasm; Nucleus 0 0 3 1 5 2004-08-31 Q6L8Q7 PDE12_HUMAN PDE12 2',5'-phosphodiesterase 12 609 67.4 3 3.1.4.- Mitochondrion matrix 0 0 3 1 5 2008-03-18 Q6PCB8 EMB_HUMAN EMB Embigin 327 36.9 5 Cell membrane; Synapse 1 0 3 1 5 2005-02-01 Q6PD74 AAGAB_HUMAN AAGAB Alpha- and gamma-adaptin-binding protein p34 315 34.6 15 Cytoplasm 0 1 Keratoderma, palmoplantar, punctate 1A 3 1 5 2005-03-29 Q6PJ69 TRI65_HUMAN TRIM65 E3 ubiquitin-protein ligase TRIM65 517 57.4 17 2.3.2.27 Cytoplasm 0 0 3 1 5 2006-09-05 Q6UUV9 CRTC1_HUMAN CRTC1 CREB-regulated transcription coactivator 1 634 67.3 19 Cytoplasm; Nucleus 0 0 3 1 5 2005-07-05 Q7L1T6 NB5R4_HUMAN CYB5R4 Cytochrome b5 reductase 4 521 59.5 6 1.6.2.2 Endoplasmic reticulum 0 0 3 1 5 2007-05-15 Q7LG56 RIR2B_HUMAN RRM2B Ribonucleoside-diphosphate reductase subunit M2 B 351 40.7 8 1.17.4.1 Cytoplasm; Nucleus 0 4 Mitochondrial DNA depletion syndrome 8A; Mitochondrial DNA depletion syndrome 8B; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5; Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 3 1 5 2006-03-21 Q7RTP6 MICA3_HUMAN MICAL3 [F-actin]-monooxygenase MICAL3 2002 224.3 22 1.14.13.225 Cytoplasm; Nucleus; Midbody 0 0 3 1 5 2004-04-13 Q7Z460 CLAP1_HUMAN CLASP1 CLIP-associating protein 1 1538 169.5 2 Cytoplasm; Chromosome; Golgi apparatus 0 0 3 1 5 2005-10-11 Q86SZ2 TPC6B_HUMAN TRAPPC6B Trafficking protein particle complex subunit 6B 158 18 14 Golgi apparatus; Endoplasmic reticulum 0 1 Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 3 1 5 2004-03-15 Q86XP0 PA24D_HUMAN PLA2G4D Cytosolic phospholipase A2 delta 818 92 15 3.1.1.4 Cytoplasm; Membrane 0 0 3 1 5 2006-07-25 Q8IUF8 RIOX2_HUMAN RIOX2 Ribosomal oxygenase 2 465 52.8 3 Nucleus 0 0 3 1 5 2007-10-23 Q8IWA0 WDR75_HUMAN WDR75 WD repeat-containing protein 75 830 94.5 2 Nucleus 0 0 3 1 5 2005-08-16 Q8N0W4 NLGNX_HUMAN NLGN4X Neuroligin-4, X-linked 816 91.9 X Cell membrane; Postsynaptic density membrane; Cell projection; Synapse 1 1 Autism, X-linked 2 3 1 5 2003-05-23 Q8N2C7 UNC80_HUMAN UNC80 Protein unc-80 homolog 3258 363.4 2 Cell membrane 4 1 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 3 1 5 2005-08-16 Q8N4S9 MALD2_HUMAN MARVELD2 MARVEL domain-containing protein 2 558 64.2 5 Cell membrane; Cell junction 6 1 Deafness, autosomal recessive, 49 3 1 5 2007-01-09 Q8N5Y2 MS3L1_HUMAN MSL3 MSL complex subunit 3 521 59.8 X Nucleus 0 1 Basilicata-Akhtar syndrome 3 1 5 2003-06-20 Q8NAT1 PMGT2_HUMAN POMGNT2 Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 580 66.6 3 2.4.1.312 Endoplasmic reticulum membrane 1 2 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A8; Muscular dystrophy-dystroglycanopathy limb-girdle C8 3 1 5 2006-09-05 Q8NCF5 NF2IP_HUMAN NFATC2IP NFATC2-interacting protein 419 45.8 16 Nucleus; Cytoplasm 0 0 3 1 5 2007-03-20 Q8TDD5 MCLN3_HUMAN MCOLN3 Mucolipin-3 553 64.2 1 Cell membrane; Early endosome membrane; Late endosome membrane; Lysosome membrane; Cytoplasmic vesicle 6 0 3 1 5 2004-07-19 Q8TDP1 RNH2C_HUMAN RNASEH2C Ribonuclease H2 subunit C 164 17.8 11 Nucleus 0 1 Aicardi-Goutieres syndrome 3 3 1 5 2006-09-05 Q8WUA4 TF3C2_HUMAN GTF3C2 General transcription factor 3C polypeptide 2 911 100.7 2 Nucleus 0 0 3 1 5 2004-06-07 Q8WV92 MITD1_HUMAN MITD1 MIT domain-containing protein 1 249 29.3 2 Late endosome membrane; Midbody; Membrane 0 0 3 1 5 2006-11-28 Q8WVY7 UBCP1_HUMAN UBLCP1 Ubiquitin-like domain-containing CTD phosphatase 1 318 36.8 5 3.1.3.16 Nucleus 0 0 3 1 5 2006-06-27 Q92625 ANS1A_HUMAN ANKS1A Ankyrin repeat and SAM domain-containing protein 1A 1134 123.1 6 Cytoplasm; Cell projection 0 0 3 1 5 2003-05-09 Q92734 TFG_HUMAN TFG Protein TFG 400 43.4 3 Endoplasmic reticulum 0 2 Neuropathy, hereditary motor and sensory, Okinawa type; Spastic paraplegia 57, autosomal recessive 3 1 5 2004-02-02 Q92783 STAM1_HUMAN STAM Signal transducing adapter molecule 1 540 59.2 10 Cytoplasm; Early endosome membrane 0 0 3 1 5 2005-07-19 Q92838 EDA_HUMAN EDA Ectodysplasin-A 391 41.3 X Cell membrane 1 2 Ectodermal dysplasia 1, hypohidrotic, X-linked; Tooth agenesis, selective, X-linked, 1 3 1 5 1997-11-01 Q92917 GPKOW_HUMAN GPKOW G-patch domain and KOW motifs-containing protein 476 52.2 X Nucleus 0 0 3 1 5 1997-11-01 Q969H8 MYDGF_HUMAN MYDGF Myeloid-derived growth factor 173 18.8 19 Secreted; Endoplasmic reticulum-Golgi intermediate compartment; Endoplasmic reticulum; Golgi apparatus 0 0 3 1 5 2004-07-05 Q969X0 RIPL2_HUMAN RILPL2 RILP-like protein 2 211 24 12 Cytoplasm; Cell projection 0 0 3 1 5 2008-02-05 Q969X6 UTP4_HUMAN UTP4 U3 small nucleolar RNA-associated protein 4 homolog 686 76.9 16 Nucleus; Chromosome 0 0 3 1 5 2004-01-16 Q96A54 PAQR1_HUMAN ADIPOR1 Adiponectin receptor protein 1 375 42.6 1 Cell membrane 7 0 3 1 5 2003-11-14 Q96B67 ARRD3_HUMAN ARRDC3 Arrestin domain-containing protein 3 414 46.4 5 Cytoplasm; Cell membrane; Lysosome; Endosome; Early endosome 0 0 3 1 5 2006-06-27 Q96BT7 ALKB8_HUMAN ALKBH8 tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ALKBH8 664 75.2 11 2.1.1.229 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 71 3 1 5 2008-05-20 Q96BY9 SARAF_HUMAN SARAF Store-operated calcium entry-associated regulatory factor 339 37 8 Endoplasmic reticulum membrane 1 0 3 1 5 2006-01-10 Q96CW1 AP2M1_HUMAN AP2M1 AP-2 complex subunit mu 435 49.7 3 Cell membrane; Membrane 0 1 Intellectual developmental disorder, autosomal dominant 60, with seizures 3 1 5 2004-08-16 Q96DB9 FXYD5_HUMAN FXYD5 FXYD domain-containing ion transport regulator 5 178 19.5 19 Cell membrane; Basolateral cell membrane 1 0 3 1 5 2002-01-23 Q96DH6 MSI2H_HUMAN MSI2 RNA-binding protein Musashi homolog 2 328 35.2 17 Cytoplasm 0 0 3 1 5 2004-08-16 Q96E09 PBIR1_HUMAN PABIR1 PPP2R1A-PPP2R2A-interacting phosphatase regulator 1 287 30.5 9 Nucleus; Cytoplasm 0 0 3 1 5 2005-07-05 Q96FJ0 STALP_HUMAN STAMBPL1 AMSH-like protease 436 49.8 10 3.4.19.- 0 0 3 1 5 2005-07-19 Q96FX7 TRM61_HUMAN TRMT61A tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61A 289 31.4 14 2.1.1.220 Nucleus 0 0 3 1 5 2006-05-02 Q96H15 TIMD4_HUMAN TIMD4 T-cell immunoglobulin and mucin domain-containing protein 4 378 41.6 5 Cell membrane; Secreted 1 0 3 1 5 2005-09-27 Q96HA7 TONSL_HUMAN TONSL Tonsoku-like protein 1378 150.9 8 Nucleus; Chromosome; Cytoplasm 0 1 Spondyloepimetaphyseal dysplasia, sponastrime type 3 1 5 2008-04-08 Q96HC4 PDLI5_HUMAN PDLIM5 PDZ and LIM domain protein 5 596 63.9 4 Postsynaptic density; Presynapse; Postsynapse; Cytoplasm 0 0 3 1 5 2004-05-24 Q96JP5 ZFP91_HUMAN ZFP91 E3 ubiquitin-protein ligase ZFP91 570 63.4 11 2.3.2.27 Nucleus 0 0 3 1 5 2005-02-01 Q96MT8 CEP63_HUMAN CEP63 Centrosomal protein of 63 kDa 703 81.3 3 Cytoplasm 0 1 Seckel syndrome 6 3 1 5 2004-12-21 Q96PP8 GBP5_HUMAN GBP5 Guanylate-binding protein 5 586 66.6 1 3.6.5.- Cytoplasmic vesicle membrane; Golgi apparatus membrane; Cytoplasm 0 0 3 1 5 2003-10-24 Q99567 NUP88_HUMAN NUP88 Nuclear pore complex protein Nup88 741 83.5 17 Nucleus 0 1 Fetal akinesia deformation sequence 4 3 1 5 2002-11-08 Q9BQI6 SLF1_HUMAN SLF1 SMC5-SMC6 complex localization factor protein 1 1058 121.1 5 Nucleus; Cytoplasm 0 0 3 1 5 2006-06-27 Q9BT30 ALKB7_HUMAN ALKBH7 RNA demethylase ALKBH7, mitochondrial 221 24.5 19 1.14.11.- Mitochondrion matrix 0 0 3 1 5 2006-05-30 Q9BVA1 TBB2B_HUMAN TUBB2B Tubulin beta-2B chain 445 50 6 Cytoplasm 0 1 Cortical dysplasia, complex, with other brain malformations 7 3 1 5 2006-11-28 Q9BX59 TPSNR_HUMAN TAPBPL Tapasin-related protein 468 50.2 12 Cell membrane; Endoplasmic reticulum membrane; Microsome membrane; Golgi apparatus membrane 1 0 3 1 5 2005-04-26 Q9H4L5 OSBL3_HUMAN OSBPL3 Oxysterol-binding protein-related protein 3 887 101.2 7 Endoplasmic reticulum membrane; Cytoplasm; Cell membrane; Cell projection; Nucleus membrane 0 0 3 1 5 2002-02-11 Q9H4M7 PKHA4_HUMAN PLEKHA4 Pleckstrin homology domain-containing family A member 4 779 85.4 19 Cytoplasm; Membrane 0 0 3 1 5 2004-03-29 Q9H4Z3 CAPAM_HUMAN PCIF1 mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase 704 80.7 20 2.1.1.62 Nucleus 0 0 3 1 5 2002-12-06 Q9HB29 ILRL2_HUMAN IL1RL2 Interleukin-1 receptor-like 2 575 65.4 2 3.2.2.6 Membrane 1 0 3 1 5 2002-12-06 Q9NQZ2 SAS10_HUMAN UTP3 Something about silencing protein 10 479 54.6 4 Nucleus 0 0 3 1 5 2005-02-01 Q9NRN9 METL5_HUMAN METTL5 rRNA N(6)-adenosine-methyltransferase METTL5 209 23.7 2 2.1.1.- Nucleus; Presynapse; Postsynapse 0 1 Intellectual developmental disorder, autosomal recessive 72 3 1 5 2006-10-03 Q9NS18 GLRX2_HUMAN GLRX2 Glutaredoxin-2, mitochondrial 164 18.1 1 Mitochondrion 0 0 3 1 5 2005-08-30 Q9NSA0 S22AB_HUMAN SLC22A11 Solute carrier family 22 member 11 550 60 11 Cell membrane; Apical cell membrane; Basal cell membrane 12 0 3 1 5 2006-05-16 Q9NVV9 THAP1_HUMAN THAP1 THAP domain-containing protein 1 213 24.9 8 Nucleus 0 1 Dystonia 6, torsion 3 1 5 2003-04-11 Q9NVW2 RNF12_HUMAN RLIM E3 ubiquitin-protein ligase RLIM 624 68.5 X 2.3.2.27 Nucleus 0 1 Tonne-Kalscheuer syndrome 3 1 5 2001-02-21 Q9NX58 LYAR_HUMAN LYAR Cell growth-regulating nucleolar protein 379 43.6 4 Nucleus; Cytoplasm; Cell projection 0 0 3 1 5 2005-07-19 Q9NY72 SCN3B_HUMAN SCN3B Sodium channel regulatory subunit beta-3 215 24.7 11 Cell membrane 1 2 Brugada syndrome 7; Atrial fibrillation, familial, 16 3 1 5 2001-01-11 Q9NYH9 UTP6_HUMAN UTP6 U3 small nucleolar RNA-associated protein 6 homolog 597 70.2 17 Nucleus 0 0 3 1 5 2001-09-26 Q9NZI5 GRHL1_HUMAN GRHL1 Grainyhead-like protein 1 homolog 618 70.1 2 Nucleus 0 0 3 1 5 2006-03-21 Q9P1Z3 HCN3_HUMAN HCN3 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 774 86 1 Cell membrane 6 0 3 1 5 2003-02-28 Q9P212 PLCE1_HUMAN PLCE1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 2302 258.7 10 3.1.4.11 Cytoplasm; Cell membrane; Golgi apparatus membrane; Cell projection 0 1 Nephrotic syndrome 3 3 1 5 2006-10-31 Q9UHX3 AGRE2_HUMAN ADGRE2 Adhesion G protein-coupled receptor E2 823 90.5 19 Cell membrane; Cell projection 7 1 Vibratory urticaria 3 1 5 2004-03-01 Q9UIC8 LCMT1_HUMAN LCMT1 Leucine carboxyl methyltransferase 1 334 38.4 16 2.1.1.233 0 0 3 1 5 2000-12-01 Q9UM22 EPDR1_HUMAN EPDR1 Mammalian ependymin-related protein 1 224 25.4 7 Lysosome lumen; Secreted 0 0 3 1 5 2001-02-21 Q9UPW6 SATB2_HUMAN SATB2 DNA-binding protein SATB2 733 82.6 2 Nucleus matrix 0 1 Cleft palate isolated 3 1 5 2001-04-27 Q9Y219 JAG2_HUMAN JAG2 Protein jagged-2 1238 133.4 14 Membrane 1 1 Muscular dystrophy, limb-girdle, autosomal recessive 27 3 1 5 2002-03-27 Q9Y2Q3 GSTK1_HUMAN GSTK1 Glutathione S-transferase kappa 1 226 25.5 7 2.5.1.18 Peroxisome 0 0 3 1 5 2001-01-24 Q9Y3A2 UTP11_HUMAN UTP11 Probable U3 small nucleolar RNA-associated protein 11 253 30.4 1 Nucleus 0 0 3 1 5 2003-04-04 Q9Y5B0 CTDP1_HUMAN CTDP1 RNA polymerase II subunit A C-terminal domain phosphatase 961 104.4 18 3.1.3.16 Nucleus; Cytoplasm; Midbody 0 1 Congenital cataracts, facial dysmorphism, and neuropathy 3 1 5 2004-04-13 Q9Y5J1 UTP18_HUMAN UTP18 U3 small nucleolar RNA-associated protein 18 homolog 556 62 17 Nucleus 0 0 3 1 5 2001-11-16 Q9Y5P8 P2R3B_HUMAN PPP2R3B Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit beta 575 65.1 X Nucleus 0 0 3 1 5 2000-05-30 Q9Y696 CLIC4_HUMAN CLIC4 Chloride intracellular channel protein 4 253 28.8 1 Cytoplasm; Cytoplasmic vesicle membrane; Nucleus; Cell membrane; Mitochondrion; Cell junction; Endoplasmic reticulum membrane 1 0 3 1 5 2000-05-30 Q9Y6Y0 NS1BP_HUMAN IVNS1ABP Influenza virus NS1A-binding protein 642 71.7 1 Cytoplasm; Nucleus 0 1 Immunodeficiency 70 3 1 5 2007-05-01 P01825 HV459_HUMAN IGHV4-59 Immunoglobulin heavy variable 4-59 116 12.9 14 Secreted; Cell membrane 0 0 3 1 4 1986-07-21 Q504Y3 ZCPW2_HUMAN ZCWPW2 Zinc finger CW-type PWWP domain protein 2 356 41.4 3 0 0 3 1 4 2007-05-01 Q9BTE1 DCTN5_HUMAN DCTN5 Dynactin subunit 5 182 20.1 16 Cytoplasm; Chromosome 0 0 3 1 4 2005-04-26 Q9H6Y2 WDR55_HUMAN WDR55 WD repeat-containing protein 55 383 42.1 5 Nucleus; Cytoplasm 0 0 3 1 4 2006-05-30 Q9UNX4 WDR3_HUMAN WDR3 WD repeat-containing protein 3 943 106.1 1 Nucleus 0 0 3 1 4 2001-01-11 Q9Y4K1 CRBG1_HUMAN CRYBG1 Beta/gamma crystallin domain-containing protein 1 2131 231.7 6 0 0 3 1 4 2001-01-24 Q9Y5G1 PCDGF_HUMAN PCDHGB3 Protocadherin gamma-B3 929 101.2 5 Cell membrane 1 0 3 1 4 2003-10-24 A0A075B6N1 TVB19_HUMAN TRBV19 T cell receptor beta variable 19 114 12.8 7 Cell membrane 0 0 3 1 4 2018-05-23 P56277 CMC4_HUMAN CMC4 Cx9C motif-containing protein 4 68 7.7 X Mitochondrion 0 0 3 1 4 1998-07-15 Q9H347 UBQL3_HUMAN UBQLN3 Ubiquilin-3 655 70.8 11 0 0 3 1 4 2004-03-29 Q9UNL2 SSRG_HUMAN SSR3 Translocon-associated protein subunit gamma 185 21.1 3 Endoplasmic reticulum membrane 4 0 3 1 4 2000-12-01 O15016 TRI66_HUMAN TRIM66 Tripartite motif-containing protein 66 1351 149.5 11 Nucleus 0 0 3 1 4 1998-07-15 P56278 MTCP1_HUMAN MTCP1 Protein p13 MTCP-1 107 12.6 X 0 0 3 1 4 1998-07-15 Q9H3E2 SNX25_HUMAN SNX25 Sorting nexin-25 840 97.9 4 Endosome membrane 0 0 3 1 4 2002-03-27 O00399 DCTN6_HUMAN DCTN6 Dynactin subunit 6 190 20.7 8 Cytoplasm; Chromosome 0 0 3 1 4 1998-07-15 P43363 MAGAA_HUMAN MAGEA10 Melanoma-associated antigen 10 369 40.8 X Nucleus 0 0 3 1 4 1995-11-01 P82980 RET5_HUMAN RBP5 Retinol-binding protein 5 135 15.9 12 Cytoplasm 0 0 3 1 4 2001-07-11 Q14324 MYPC2_HUMAN MYBPC2 Myosin-binding protein C, fast-type 1141 128.1 19 0 0 3 1 4 1999-07-15 Q6P582 MZT2A_HUMAN MZT2A Mitotic-spindle organizing protein 2A 158 16.2 2 Cytoplasm 0 0 3 1 4 2008-06-10 Q9BPX5 ARP5L_HUMAN ARPC5L Actin-related protein 2/3 complex subunit 5-like protein 153 16.9 9 Cytoplasm 0 0 3 1 4 2007-03-06 O43824 GTPB6_HUMAN GTPBP6 Putative GTP-binding protein 6 516 56.9 X 0 0 3 1 4 2007-09-11 P81877 SSBP2_HUMAN SSBP2 Single-stranded DNA-binding protein 2 361 37.8 5 Nucleus 0 0 3 1 4 2003-01-10 Q658Y4 F91A1_HUMAN FAM91A1 Protein FAM91A1 838 93.9 8 Golgi apparatus; Cytoplasmic vesicle 0 0 3 1 4 2007-04-03 Q8NFK1 CXG3_HUMAN GJC3 Gap junction gamma-3 protein 279 31.3 7 Cell membrane; Cell junction 4 0 3 1 4 2003-06-20 Q8WUX2 CHAC2_HUMAN CHAC2 Glutathione-specific gamma-glutamylcyclotransferase 2 184 20.9 2 4.3.2.7 Cytoplasm 0 0 3 1 4 2008-01-15 Q8WXD9 CSKI1_HUMAN CASKIN1 Caskin-1 1431 149.8 16 Cytoplasm 0 0 3 1 4 2005-03-15 Q9BPY3 F118B_HUMAN SIRAL1 SIR2 antiphage-like protein 1 351 39.5 11 Nucleus 0 0 3 1 4 2007-07-10 Q9NS28 RGS18_HUMAN RGS18 Regulator of G protein signaling 18 235 27.6 1 Cytoplasm 0 0 3 1 4 2001-08-14 A0A0B4J274 TVA20_HUMAN TRAV20 T cell receptor alpha variable 20 112 12.7 14 Cell membrane 0 0 3 1 3 2018-02-28 Q96R05 RET7_HUMAN RBP7 Retinoid-binding protein 7 134 15.5 1 Cytoplasm 0 0 3 1 3 2002-04-03 Q9NW82 WDR70_HUMAN WDR70 WD repeat-containing protein 70 654 73.2 5 0 0 3 1 3 2007-10-02 A0A0B4J1U4 TRGV5_HUMAN TRGV5 T cell receptor gamma variable 5 118 13.6 7 Cell membrane 0 0 3 1 3 2019-01-16 A8MUM7 LEG16_HUMAN LGALS16 Galectin-16 142 16.6 19 0 0 3 1 3 2011-10-19 Q5JS54 PSMG4_HUMAN PSMG4 Proteasome assembly chaperone 4 123 13.8 6 0 0 3 1 3 2008-06-10 Q9NVR0 KLH11_HUMAN KLHL11 Kelch-like protein 11 708 80.1 17 0 0 3 1 3 2006-06-27 A0A5B6 TVB28_HUMAN TRBV28 T cell receptor beta variable 28 114 13.2 7 Cell membrane 0 0 3 1 3 2018-07-18 P61570 ENK25_HUMAN ERVK-25 Endogenous retrovirus group K member 25 Env polyprotein 661 74.9 Virion 1 0 3 1 3 2004-05-24 Q5JSS6 MEIG1_HUMAN MEIG1 Meiosis expressed gene 1 protein homolog 88 10.8 10 0 0 3 1 2 2008-01-15 C0HLS1 OSCRI_HUMAN SCRIB SCRIB overlapping open reading frame protein 120 12 0 0 3 1 2 2022-02-23 A2RUC4 TYW5_HUMAN TYW5 tRNA wybutosine-synthesizing protein 5 315 36.5 2 1.14.11.42 0 0 2 1 5 2007-11-13 O00161 SNP23_HUMAN SNAP23 Synaptosomal-associated protein 23 211 23.4 15 Cell membrane 0 0 2 1 5 2000-05-30 O00400 ACATN_HUMAN SLC33A1 Acetyl-coenzyme A transporter 1 549 60.9 3 Endoplasmic reticulum membrane 11 2 Spastic paraplegia 42, autosomal dominant; Huppke-Brendel syndrome 2 1 5 2005-12-20 O00409 FOXN3_HUMAN FOXN3 Forkhead box protein N3 490 53.8 14 Nucleus 0 0 2 1 5 2000-05-30 O00591 GBRP_HUMAN GABRP Gamma-aminobutyric acid receptor subunit pi 440 50.6 5 Cell membrane; Apical cell membrane 4 0 2 1 5 1999-07-15 O00622 CCN1_HUMAN CCN1 CCN family member 1 381 42 1 Secreted 0 0 2 1 5 1998-07-15 O00712 NFIB_HUMAN NFIB Nuclear factor 1 B-type 420 47.4 9 Nucleus 0 1 Macrocephaly, acquired, with impaired intellectual development 2 1 5 2001-06-01 O14788 TNF11_HUMAN TNFSF11 Tumor necrosis factor ligand superfamily member 11 317 35.5 13 Cell membrane 1 1 Osteopetrosis, autosomal recessive 2 2 1 5 2001-01-24 O14843 FFAR3_HUMAN FFAR3 Free fatty acid receptor 3 346 38.6 19 Cell membrane 7 0 2 1 5 1998-07-15 O15230 LAMA5_HUMAN LAMA5 Laminin subunit alpha-5 3695 399.7 20 Secreted 0 2 Nephrotic syndrome 26; Bent bone dysplasia syndrome 2 2 1 5 2001-04-27 O15259 NPHP1_HUMAN NPHP1 Nephrocystin-1 732 83.3 2 Cell junction; Cell projection; Cytoplasm 0 3 Nephronophthisis 1; Senior-Loken syndrome 1; Joubert syndrome 4 2 1 5 2001-11-16 O15488 GLYG2_HUMAN GYG2 Glycogenin-2 501 55.2 X 2.4.1.186 Cytoplasm; Nucleus 0 0 2 1 5 2000-05-30 O15511 ARPC5_HUMAN ARPC5 Actin-related protein 2/3 complex subunit 5 151 16.3 1 Cytoplasm; Cell projection; Nucleus 0 1 Immunodeficiency 113 with autoimmunity and autoinflammation 2 1 5 1998-07-15 O15520 FGF10_HUMAN FGF10 Fibroblast growth factor 10 208 23.4 5 Secreted 0 2 Aplasia of lacrimal and salivary glands; Lacrimo-auriculo-dento-digital syndrome 3 2 1 5 1999-07-15 O60235 TM11D_HUMAN TMPRSS11D Transmembrane protease serine 11D 418 46.3 4 3.4.21.- Cell membrane 1 0 2 1 5 2001-10-18 O60281 ZN292_HUMAN ZNF292 Zinc finger protein 292 2723 304.8 6 Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 64 2 1 5 2002-11-15 O60307 MAST3_HUMAN MAST3 Microtubule-associated serine/threonine-protein kinase 3 1309 143.1 19 2.7.11.1 Cytoplasm 0 1 Developmental and epileptic encephalopathy 108 2 1 5 2005-11-22 O60381 HBP1_HUMAN HBP1 HMG box-containing protein 1 514 57.6 7 Nucleus 0 0 2 1 5 2005-07-19 O60481 ZIC3_HUMAN ZIC3 Zinc finger protein ZIC 3 467 50.6 X Nucleus; Cytoplasm 0 3 Heterotaxy, visceral, 1, X-linked; VACTERL association X-linked with or without hydrocephalus; Congenital heart defects, multiple types, 1, X-linked 2 1 5 1998-12-15 O75449 KTNA1_HUMAN KATNA1 Katanin p60 ATPase-containing subunit A1 491 56 6 5.6.1.1 Cytoplasm; Midbody 0 0 2 1 5 2005-03-01 O75897 ST1C4_HUMAN SULT1C4 Sulfotransferase 1C4 302 35.5 2 2.8.2.1 Cytoplasm 0 0 2 1 5 2000-12-01 O75928 PIAS2_HUMAN PIAS2 E3 SUMO-protein ligase PIAS2 621 68.2 18 2.3.2.- Nucleus speckle; Nucleus 0 0 2 1 5 2004-12-07 O95260 ATE1_HUMAN ATE1 Arginyl-tRNA--protein transferase 1 518 59.1 10 2.3.2.8 Nucleus; Cytoplasm 0 0 2 1 5 2001-02-21 O95274 LYPD3_HUMAN LYPD3 Ly6/PLAUR domain-containing protein 3 346 36 19 Cell membrane 0 0 2 1 5 2006-03-07 O95429 BAG4_HUMAN BAG4 BAG family molecular chaperone regulator 4 457 49.6 8 Cytoplasm 0 0 2 1 5 2001-01-11 O95470 SGPL1_HUMAN SGPL1 Sphingosine-1-phosphate lyase 1 568 63.5 10 4.1.2.27 Endoplasmic reticulum membrane 1 1 RENI syndrome 2 1 5 2003-10-24 O95622 ADCY5_HUMAN ADCY5 Adenylate cyclase type 5 1261 138.9 3 4.6.1.1 Cell membrane; Cell projection 12 3 Dyskinesia with orofacial involvement, autosomal recessive; Dyskinesia with orofacial involvement, autosomal dominant; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 2 1 5 2000-05-30 O95881 TXD12_HUMAN TXNDC12 Thioredoxin domain-containing protein 12 172 19.2 1 1.8.4.2 Endoplasmic reticulum lumen 0 0 2 1 5 2003-04-11 P01597 KV139_HUMAN IGKV1-39 Immunoglobulin kappa variable 1-39 117 12.7 2 Secreted; Cell membrane 0 0 2 1 5 1986-07-21 P04090 REL2_HUMAN RLN2 Prorelaxin H2 185 21 9 Secreted 0 0 2 1 5 1986-11-01 P04198 MYCN_HUMAN MYCN N-myc proto-oncogene protein 464 49.6 2 Nucleus 0 2 Feingold syndrome 1; Megalencephaly-polydactyly syndrome 2 1 5 1987-03-20 P05451 REG1A_HUMAN REG1A Lithostathine-1-alpha 166 18.7 2 Secreted 0 0 2 1 5 1988-11-01 P06454 PTMA_HUMAN PTMA Prothymosin alpha 111 12.2 2 Nucleus 0 0 2 1 5 1988-01-01 P06865 HEXA_HUMAN HEXA Beta-hexosaminidase subunit alpha 529 60.7 15 3.2.1.52 Lysosome 0 1 GM2-gangliosidosis 1 2 1 5 1988-01-01 P07902 GALT_HUMAN GALT Galactose-1-phosphate uridylyltransferase 379 43.4 9 2.7.7.12 0 1 Galactosemia 1 2 1 5 1988-08-01 P09086 PO2F2_HUMAN POU2F2 POU domain, class 2, transcription factor 2 479 51.2 19 Cytoplasm; Nucleus 0 0 2 1 5 1988-11-01 P09668 CATH_HUMAN CTSH Pro-cathepsin H 335 37.4 15 Lysosome 0 0 2 1 5 1989-07-01 P0C870 JMJD7_HUMAN JMJD7 Bifunctional peptidase and (3S)-lysyl hydroxylase JMJD7 316 35.9 15 1.14.11.63, 3.4.-.- Nucleus; Cytoplasm 0 0 2 1 5 2008-09-02 P10645 CMGA_HUMAN CHGA Chromogranin-A 457 50.7 14 Cytoplasmic vesicle; Secreted 0 0 2 1 5 1989-07-01 P10909 CLUS_HUMAN CLU Clusterin 449 52.5 8 Nucleus; Cytoplasm; Mitochondrion membrane; Microsome; Endoplasmic reticulum; Mitochondrion; Cytoplasmic vesicle 0 0 2 1 5 1989-07-01 P13473 LAMP2_HUMAN LAMP2 Lysosome-associated membrane glycoprotein 2 410 45 X Lysosome membrane; Endosome membrane; Cell membrane; Cytoplasmic vesicle 1 1 Danon disease 2 1 5 1990-01-01 P13647 K2C5_HUMAN KRT5 Keratin, type II cytoskeletal 5 590 62.4 12 Cytoplasm 0 7 Epidermolysis bullosa simplex 2A, generalized severe; Epidermolysis bullosa simplex 2B, generalized intermediate; Epidermolysis bullosa simplex 2C, localized; Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive; Epidermolysis bullosa simplex 2E, with migratory circinate erythema; Epidermolysis bullosa simplex 2F, with mottled pigmentation; Dowling-Degos disease 1 2 1 5 1990-01-01 P13686 PPA5_HUMAN ACP5 Tartrate-resistant acid phosphatase type 5 325 36.6 19 3.1.3.2 Lysosome; Secreted 0 1 Spondyloenchondrodysplasia with immune dysregulation 2 1 5 1990-01-01 P13928 ANXA8_HUMAN ANXA8 Annexin A8 327 36.9 10 0 0 2 1 5 1990-01-01 P16591 FER_HUMAN FER Tyrosine-protein kinase Fer 822 94.6 5 2.7.10.2 Cytoplasm; Cell membrane; Cell projection; Cell junction; Membrane; Nucleus 0 0 2 1 5 1990-08-01 P18440 ARY1_HUMAN NAT1 Arylamine N-acetyltransferase 1 290 33.9 8 2.3.1.5 Cytoplasm 0 0 2 1 5 1990-11-01 P18848 ATF4_HUMAN ATF4 Cyclic AMP-dependent transcription factor ATF-4 351 38.6 22 Nucleus; Nucleus speckle; Cytoplasm; Cell membrane 0 0 2 1 5 1990-11-01 P20061 TCO1_HUMAN TCN1 Transcobalamin-1 433 48.2 11 Secreted 0 0 2 1 5 1991-02-01 P20132 SDHL_HUMAN SDS L-serine dehydratase/L-threonine deaminase 328 34.6 12 4.3.1.17 Cytoplasm 0 0 2 1 5 1991-02-01 P21127 CD11B_HUMAN CDK11B Cyclin-dependent kinase 11B 795 92.6 1 2.7.11.22, 2.7.11.23 Nucleus; Chromosome; Cytoplasm 0 0 2 1 5 1991-02-01 P22304 IDS_HUMAN IDS Iduronate 2-sulfatase 550 61.9 X 3.1.6.13 Lysosome 0 1 Mucopolysaccharidosis 2 2 1 5 1991-08-01 P22307 SCP2_HUMAN SCP2 Sterol carrier protein 2 547 59 1 Peroxisome; Cytoplasm; Mitochondrion; Endoplasmic reticulum 0 1 Leukoencephalopathy with dystonia and motor neuropathy 2 1 5 1991-08-01 P26885 FKBP2_HUMAN FKBP2 Peptidyl-prolyl cis-trans isomerase FKBP2 142 15.6 11 5.2.1.8 Endoplasmic reticulum membrane 0 0 2 1 5 1992-08-01 P27352 IF_HUMAN CBLIF Cobalamin binding intrinsic factor 417 45.4 11 Secreted 0 1 Hereditary intrinsic factor deficiency 2 1 5 1992-08-01 P28039 AOAH_HUMAN AOAH Acyloxyacyl hydrolase 575 65.1 7 3.1.1.77 Secreted; Cytoplasmic vesicle 0 0 2 1 5 1992-08-01 P29034 S10A2_HUMAN S100A2 Protein S100-A2 98 11.1 1 0 0 2 1 5 1992-12-01 P29400 CO4A5_HUMAN COL4A5 Collagen alpha-5(IV) chain 1685 161 X Secreted 0 1 Alport syndrome 1, X-linked 2 1 5 1992-12-01 P30281 CCND3_HUMAN CCND3 G1/S-specific cyclin-D3 292 32.5 6 Nucleus; Cytoplasm 0 0 2 1 5 1993-04-01 P31391 SSR4_HUMAN SSTR4 Somatostatin receptor type 4 388 42 20 Cell membrane 7 0 2 1 5 1993-07-01 P35241 RADI_HUMAN RDX Radixin 583 68.6 11 Cell membrane; Cytoplasm; Cleavage furrow; Cell projection 0 1 Deafness, autosomal recessive, 24 2 1 5 1994-02-01 P36406 TRI23_HUMAN TRIM23 E3 ubiquitin-protein ligase TRIM23 574 64.1 5 2.3.2.27 Cytoplasm; Endomembrane system; Golgi apparatus membrane; Lysosome membrane 0 0 2 1 5 1994-06-01 P36941 TNR3_HUMAN LTBR Tumor necrosis factor receptor superfamily member 3 435 46.7 12 Membrane 1 0 2 1 5 1994-06-01 P36959 GMPR1_HUMAN GMPR GMP reductase 1 345 37.4 6 1.7.1.7 0 0 2 1 5 1994-06-01 P40121 CAPG_HUMAN CAPG Macrophage-capping protein 348 38.5 2 Nucleus; Cytoplasm; Melanosome; Cell projection 0 0 2 1 5 1995-02-01 P40925 MDHC_HUMAN MDH1 Malate dehydrogenase, cytoplasmic 334 36.4 2 1.1.1.37 Cytoplasm 0 1 Developmental and epileptic encephalopathy 88 2 1 5 1995-02-01 P46597 ASMT_HUMAN ASMT Acetylserotonin O-methyltransferase 345 38.5 X 2.1.1.4 0 0 2 1 5 1995-11-01 P47211 GALR1_HUMAN GALR1 Galanin receptor type 1 349 39 18 Cell membrane 7 0 2 1 5 1996-02-01 P47736 RPGP1_HUMAN RAP1GAP Rap1 GTPase-activating protein 1 663 73.4 1 Golgi apparatus membrane 0 0 2 1 5 1996-02-01 P48728 GCST_HUMAN AMT Aminomethyltransferase, mitochondrial 403 43.9 3 2.1.2.10 Mitochondrion 0 1 Glycine encephalopathy 2 2 1 5 1996-02-01 P49238 CX3C1_HUMAN CX3CR1 CX3C chemokine receptor 1 355 40.4 3 Cell membrane 7 1 Macular degeneration, age-related, 12 2 1 5 1996-02-01 P49279 NRAM1_HUMAN SLC11A1 Natural resistance-associated macrophage protein 1 550 59.9 2 Cytoplasmic vesicle; Late endosome membrane; Lysosome membrane 12 0 2 1 5 1996-02-01 P49715 CEBPA_HUMAN CEBPA CCAAT/enhancer-binding protein alpha 358 37.6 19 Nucleus 0 1 Leukemia, acute myelogenous 2 1 5 1996-10-01 P49863 GRAK_HUMAN GZMK Granzyme K 264 28.9 5 3.4.21.- Secreted; Cell surface; Cytoplasmic granule 0 0 2 1 5 1996-10-01 P50461 CSRP3_HUMAN CSRP3 Cysteine and glycine-rich protein 3 194 21 11 Nucleus; Cytoplasm 0 2 Cardiomyopathy, dilated, 1M; Cardiomyopathy, familial hypertrophic, 12 2 1 5 1996-10-01 P50895 BCAM_HUMAN BCAM Basal cell adhesion molecule 628 67.4 19 Cell membrane 1 0 2 1 5 1996-10-01 P51795 CLCN5_HUMAN CLCN5 H(+)/Cl(-) exchange transporter 5 816 90.8 X Golgi apparatus membrane; Endosome membrane; Cell membrane 10 4 Hypophosphatemic rickets, X-linked recessive; Dent disease 1; Nephrolithiasis, X-linked recessive, with renal failure; Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis 2 1 5 1996-10-01 P54198 HIRA_HUMAN HIRA Protein HIRA 1017 111.8 22 Nucleus 0 0 2 1 5 1996-10-01 P54855 UDB15_HUMAN UGT2B15 UDP-glucuronosyltransferase 2B15 530 61 4 2.4.1.17 Endoplasmic reticulum membrane 1 0 2 1 5 1996-10-01 P55000 SLUR1_HUMAN SLURP1 Secreted Ly-6/uPAR-related protein 1 103 11.2 8 Secreted 0 1 Mal de Meleda 2 1 5 1996-10-01 P55157 MTP_HUMAN MTTP Microsomal triglyceride transfer protein large subunit 894 99.4 4 Endoplasmic reticulum; Golgi apparatus 0 1 Abetalipoproteinemia 2 1 5 1996-10-01 P55273 CDN2D_HUMAN CDKN2D Cyclin-dependent kinase 4 inhibitor D 166 17.7 19 Nucleus; Cytoplasm 0 0 2 1 5 1996-10-01 P56589 PEX3_HUMAN PEX3 Peroxisomal biogenesis factor 3 373 42.1 6 Peroxisome membrane 2 3 Peroxisome biogenesis disorder complementation group 12; Peroxisome biogenesis disorder 10A; Peroxisome biogenesis disorder 10B 2 1 5 1998-12-15 P57075 UBS3A_HUMAN UBASH3A Ubiquitin-associated and SH3 domain-containing protein A 661 74.1 21 Cytoplasm; Nucleus 0 0 2 1 5 2000-12-01 P57735 RAB25_HUMAN RAB25 Ras-related protein Rab-25 213 23.5 1 3.6.5.2 Cell membrane; Cytoplasmic vesicle; Cell projection 0 0 2 1 5 2001-01-11 P59044 NLRP6_HUMAN NLRP6 NACHT, LRR and PYD domains-containing protein 6 892 98.8 11 Cytoplasm; Inflammasome; Cell membrane; Nucleus membrane 0 0 2 1 5 2002-10-19 P61163 ACTZ_HUMAN ACTR1A Alpha-centractin 376 42.6 10 Cytoplasm 0 0 2 1 5 2004-05-10 P61204 ARF3_HUMAN ARF3 ADP-ribosylation factor 3 181 20.6 12 Golgi apparatus; Cytoplasm 0 0 2 1 5 2004-05-10 P78543 BTG2_HUMAN BTG2 Protein BTG2 158 17.4 1 0 0 2 1 5 1998-07-15 Q01118 SCN7A_HUMAN SCN7A Sodium channel protein type 7 subunit alpha 1682 193.5 2 Cell membrane 24 0 2 1 5 1993-07-01 Q01362 FCERB_HUMAN MS4A2 High affinity immunoglobulin epsilon receptor subunit beta 244 26.5 11 Membrane 4 0 2 1 5 1993-04-01 Q01718 ACTHR_HUMAN MC2R Adrenocorticotropic hormone receptor 297 33.9 18 Cell membrane 7 1 Glucocorticoid deficiency 1 2 1 5 1993-07-01 Q02083 NAAA_HUMAN NAAA N-acylethanolamine-hydrolyzing acid amidase 359 40.1 4 3.5.1.60 Lysosome; Membrane 0 0 2 1 5 1998-07-15 Q02548 PAX5_HUMAN PAX5 Paired box protein Pax-5 391 42.1 9 Nucleus 0 1 Leukemia, acute lymphoblastic, 3 2 1 5 1993-10-01 Q12860 CNTN1_HUMAN CNTN1 Contactin-1 1018 113.3 12 Cell membrane 0 1 Congenital myopathy 12 2 1 5 1997-11-01 Q13075 BIRC1_HUMAN NAIP Baculoviral IAP repeat-containing protein 1 1403 159.6 5 0 0 2 1 5 1997-11-01 Q13253 NOGG_HUMAN NOG Noggin 232 25.8 17 Secreted 0 5 Symphalangism, proximal 1A; Multiple synostoses syndrome 1; Tarsal-carpal coalition syndrome; Stapes ankylosis with broad thumb and toes; Brachydactyly B2 2 1 5 2001-08-14 Q13439 GOGA4_HUMAN GOLGA4 Golgin subfamily A member 4 2230 261.1 3 Cytoplasm; Golgi apparatus membrane; Golgi apparatus 0 0 2 1 5 2000-12-01 Q13459 MYO9B_HUMAN MYO9B Unconventional myosin-IXb 2157 243.4 19 Cytoplasm 0 0 2 1 5 2001-06-20 Q13601 KRR1_HUMAN KRR1 KRR1 small subunit processome component homolog 381 43.7 12 Nucleus 0 0 2 1 5 2004-07-19 Q13698 CAC1S_HUMAN CACNA1S Voltage-dependent L-type calcium channel subunit alpha-1S 1873 212.4 1 Cell membrane 24 4 Periodic paralysis hypokalemic 1; Malignant hyperthermia 5; Thyrotoxic periodic paralysis 1; Congenital myopathy 18 2 1 5 1999-07-15 Q13884 SNTB1_HUMAN SNTB1 Beta-1-syntrophin 538 58.1 8 Cell membrane; Cell junction; Cytoplasm 0 0 2 1 5 2002-10-10 Q14469 HES1_HUMAN HES1 Transcription factor HES-1 280 29.5 3 Nucleus 0 0 2 1 5 1998-12-15 Q14738 2A5D_HUMAN PPP2R5D Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform 602 70 6 Cytoplasm; Nucleus 0 1 Houge-Janssens syndrome 1 2 1 5 2000-05-30 Q15070 OXA1L_HUMAN OXA1L Mitochondrial inner membrane protein OXA1L 435 48.5 14 Mitochondrion inner membrane 5 0 2 1 5 2001-02-21 Q15172 2A5A_HUMAN PPP2R5A Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform 486 56.2 1 Cytoplasm; Nucleus; Chromosome 0 0 2 1 5 2000-05-30 Q15646 OASL_HUMAN OASL 2'-5'-oligoadenylate synthase-like protein 514 59.2 12 Nucleus; Cytoplasm 0 0 2 1 5 1997-11-01 Q15654 TRIP6_HUMAN TRIP6 Thyroid receptor-interacting protein 6 476 50.3 7 Cytoplasm; Cell junction; Nucleus 0 0 2 1 5 1997-11-01 Q15726 KISS1_HUMAN KISS1 Metastasis-suppressor KiSS-1 138 14.7 1 Secreted 0 1 Hypogonadotropic hypogonadism 13 with or without anosmia 2 1 5 1999-07-15 Q15738 NSDHL_HUMAN NSDHL Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating 373 41.9 X 1.1.1.170 Endoplasmic reticulum membrane; Lipid droplet 1 2 Congenital hemidysplasia with ichthyosiform erythroderma and limb defects; CK syndrome 2 1 5 1997-11-01 Q16627 CCL14_HUMAN CCL14 C-C motif chemokine 14 93 10.7 17 Secreted 0 0 2 1 5 1997-11-01 Q16667 CDKN3_HUMAN CDKN3 Cyclin-dependent kinase inhibitor 3 212 23.8 14 3.1.3.16, 3.1.3.48 Cytoplasm 0 1 Hepatocellular carcinoma 2 1 5 1997-11-01 Q2PPJ7 RGPA2_HUMAN RALGAPA2 Ral GTPase-activating protein subunit alpha-2 1873 210.8 20 Cytoplasm 0 0 2 1 5 2007-05-15 Q53FA7 QORX_HUMAN TP53I3 Quinone oxidoreductase PIG3 332 35.5 2 1.6.5.5 0 0 2 1 5 2005-09-27 Q5JPE7 NOMO2_HUMAN NOMO2 BOS complex subunit NOMO2 1267 139.4 16 Endoplasmic reticulum membrane 1 0 2 1 5 2005-06-07 Q5THR3 EFCB6_HUMAN EFCAB6 EF-hand calcium-binding domain-containing protein 6 1501 172.9 22 Nucleus; Cytoplasm 0 0 2 1 5 2006-07-11 Q5VTE6 ANGE2_HUMAN ANGEL2 RNA 2',3'-cyclic phosphatase ANGEL2 544 62.3 1 3.-.-.- Mitochondrion matrix 0 0 2 1 5 2007-10-02 Q5VWZ2 LYPL1_HUMAN LYPLAL1 Lysophospholipase-like protein 1 237 26.3 1 3.1.2.22 Cytoplasm 0 0 2 1 5 2006-03-21 Q66GS9 CP135_HUMAN CEP135 Centrosomal protein of 135 kDa 1140 133.5 4 Cytoplasm 0 1 Microcephaly 8, primary, autosomal recessive 2 1 5 2005-02-01 Q687X5 STEA4_HUMAN STEAP4 Metalloreductase STEAP4 459 52 7 1.16.1.- Cell membrane; Golgi apparatus membrane; Early endosome membrane 6 0 2 1 5 2007-05-01 Q6IE81 JADE1_HUMAN JADE1 Protein Jade-1 842 95.5 4 Nucleus; Chromosome; Cytoplasm 0 0 2 1 5 2006-10-17 Q6UW63 PLGT2_HUMAN POGLUT2 Protein O-glucosyltransferase 2 502 58 13 2.4.1.- Endoplasmic reticulum lumen 0 0 2 1 5 2006-07-25 Q6ZUJ8 BCAP_HUMAN PIK3AP1 Phosphoinositide 3-kinase adapter protein 1 805 90.4 10 Cytoplasm; Cell membrane 0 0 2 1 5 2008-07-22 Q70CQ2 UBP34_HUMAN USP34 Ubiquitin carboxyl-terminal hydrolase 34 3546 404.2 2 3.4.19.12 0 0 2 1 5 2006-09-19 Q7L7L0 H2A3_HUMAN H2AC25 Histone H2A type 3 130 14.1 1 Nucleus; Chromosome 0 0 2 1 5 2006-04-04 Q7Z3B1 NEGR1_HUMAN NEGR1 Neuronal growth regulator 1 354 38.7 1 Cell membrane 0 0 2 1 5 2004-09-27 Q86SR1 GLT10_HUMAN GALNT10 Polypeptide N-acetylgalactosaminyltransferase 10 603 69 5 2.4.1.41 Golgi apparatus membrane 1 0 2 1 5 2004-08-16 Q86VX9 MON1A_HUMAN MON1A Vacuolar fusion protein MON1 homolog A 652 72.9 3 0 0 2 1 5 2007-05-01 Q86WX3 AROS_HUMAN RPS19BP1 Active regulator of SIRT1 136 15.4 22 Nucleus 0 0 2 1 5 2006-10-17 Q86XE3 MICU3_HUMAN MICU3 Calcium uptake protein 3, mitochondrial 530 60.7 8 Mitochondrion intermembrane space; Mitochondrion inner membrane 0 0 2 1 5 2006-10-03 Q86YW5 TRML1_HUMAN TREML1 Trem-like transcript 1 protein 311 32.7 6 Cell membrane; Cytoplasm 1 0 2 1 5 2006-10-17 Q8IVP5 FUND1_HUMAN FUNDC1 FUN14 domain-containing protein 1 155 17.2 X Mitochondrion outer membrane 3 0 2 1 5 2007-01-09 Q8IWS0 PHF6_HUMAN PHF6 PHD finger protein 6 365 41.3 X Nucleus; Chromosome 0 1 Boerjeson-Forssman-Lehmann syndrome 2 1 5 2004-02-16 Q8IXL7 MSRB3_HUMAN MSRB3 Methionine-R-sulfoxide reductase B3 192 20.7 12 1.8.4.12, 1.8.4.14 Endoplasmic reticulum 0 1 Deafness, autosomal recessive, 74 2 1 5 2008-04-08 Q8IYL9 GPR65_HUMAN GPR65 G protein-coupled receptor 65 337 39.3 14 Cell membrane; Early endosome membrane; Late endosome membrane 7 0 2 1 5 2003-10-03 Q8IZQ1 WDFY3_HUMAN WDFY3 WD repeat and FYVE domain-containing protein 3 3526 395.3 4 Nucleus membrane; Cytoplasm; Nucleus; Membrane; Perikaryon; Cell projection 0 1 Microcephaly 18, primary, autosomal dominant 2 1 5 2006-06-27 Q8IZX4 TAF1L_HUMAN TAF1L Transcription initiation factor TFIID subunit 1-like 1826 207.3 9 Nucleus 0 0 2 1 5 2005-01-04 Q8N4A0 GALT4_HUMAN GALNT4 Polypeptide N-acetylgalactosaminyltransferase 4 578 66.7 12 2.4.1.41 Golgi apparatus membrane 1 0 2 1 5 2004-08-16 Q8N6L0 KASH5_HUMAN KASH5 Protein KASH5 562 62.8 19 Nucleus outer membrane; Nucleus; Chromosome; Nucleus envelope 1 2 Spermatogenic failure 88; Premature ovarian failure 22 2 1 5 2008-04-29 Q8N6U8 GP161_HUMAN GPR161 G protein-coupled receptor 161 529 58.6 1 Cell projection; Cell membrane 7 1 Medulloblastoma 2 1 5 2004-06-07 Q8NBU5 ATAD1_HUMAN ATAD1 Outer mitochondrial transmembrane helix translocase 361 40.7 10 7.4.2.- Mitochondrion outer membrane; Peroxisome membrane; Postsynaptic cell membrane 1 1 Hyperekplexia 4 2 1 5 2005-09-13 Q8NFD5 ARI1B_HUMAN ARID1B AT-rich interactive domain-containing protein 1B 2319 243.9 6 Nucleus 0 1 Coffin-Siris syndrome 1 2 1 5 2005-08-30 Q8NFQ8 TOIP2_HUMAN TOR1AIP2 Torsin-1A-interacting protein 2 470 51.3 1 Endoplasmic reticulum membrane; Nucleus membrane 1 0 2 1 5 2006-03-21 Q8TBK2 SETD6_HUMAN SETD6 N-lysine methyltransferase SETD6 473 53.2 16 2.1.1.- Nucleus 0 0 2 1 5 2007-04-03 Q8TDR0 IFT54_HUMAN IFT54 Intraflagellar transport protein 54 691 78.6 2 Cytoplasm; Cell projection 0 1 Senior-Loken syndrome 9 2 1 5 2007-09-11 Q8TEM1 PO210_HUMAN NUP210 Nuclear pore membrane glycoprotein 210 1887 205.1 3 Nucleus; Nucleus membrane; Endoplasmic reticulum membrane 1 0 2 1 5 2006-05-16 Q8WXX0 DYH7_HUMAN DNAH7 Dynein axonemal heavy chain 7 4024 461.2 2 Cytoplasm; Cell projection 0 1 Ciliary dyskinesia, primary, 50 2 1 5 2008-02-05 Q92536 YLAT2_HUMAN SLC7A6 Y+L amino acid transporter 2 515 56.8 16 Cell membrane 12 0 2 1 5 2008-06-10 Q92752 TENR_HUMAN TNR Tenascin-R 1358 149.6 1 Secreted 0 1 Neurodevelopmental disorder, non-progressive, with spasticity and transient opisthotonus 2 1 5 2005-03-15 Q92854 SEM4D_HUMAN SEMA4D Semaphorin-4D 862 96.2 9 Cell membrane 1 0 2 1 5 2000-05-30 Q92995 UBP13_HUMAN USP13 Ubiquitin carboxyl-terminal hydrolase 13 863 97.3 3 3.4.19.12 Cytoplasm 0 0 2 1 5 1997-11-01 Q96B86 RGMA_HUMAN RGMA Repulsive guidance molecule A 450 49.4 15 Cell membrane 0 0 2 1 5 2004-08-16 Q96D96 HVCN1_HUMAN HVCN1 Voltage-gated hydrogen channel 1 273 31.7 12 Cell membrane; Apical cell membrane; Cytoplasmic vesicle; Cell projection 4 0 2 1 5 2008-07-01 Q96DN0 ERP27_HUMAN ERP27 Endoplasmic reticulum resident protein 27 273 30.5 12 Endoplasmic reticulum lumen 0 0 2 1 5 2007-03-20 Q96DT7 ZBT10_HUMAN ZBTB10 Zinc finger and BTB domain-containing protein 10 871 94.9 8 Nucleus 0 0 2 1 5 2004-04-26 Q96EK4 THA11_HUMAN THAP11 THAP domain-containing protein 11 314 34.5 16 Nucleus; Cytoplasm 0 2 Methylmalonic aciduria and homocystinuria type cblL; Spinocerebellar ataxia 51 2 1 5 2003-04-11 Q96F10 SAT2_HUMAN SAT2 Thialysine N-epsilon-acetyltransferase 170 19.2 17 2.3.1.- Cytoplasm 0 0 2 1 5 2004-08-16 Q96GN5 CDA7L_HUMAN CDCA7L Cell division cycle-associated 7-like protein 454 52.2 7 Cytoplasm; Nucleus 0 0 2 1 5 2006-09-05 Q96JJ3 ELMO2_HUMAN ELMO2 Engulfment and cell motility protein 2 720 82.6 20 Cytoplasm; Membrane 0 1 Vascular malformation, primary intraosseous 2 1 5 2003-05-16 Q96L93 KI16B_HUMAN KIF16B Kinesin-like protein KIF16B 1317 152 20 Cytoplasm; Early endosome membrane 0 0 2 1 5 2002-03-27 Q96NZ8 WFKN1_HUMAN WFIKKN1 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 1 548 58.8 16 Secreted 0 0 2 1 5 2007-10-23 Q96P65 QRFPR_HUMAN QRFPR Pyroglutamylated RF-amide peptide receptor 431 49.5 4 Cell membrane 7 0 2 1 5 2003-10-10 Q96PZ2 F111A_HUMAN FAM111A Serine protease FAM111A 611 70.2 11 3.4.21.- Nucleus; Chromosome; Cytoplasm 0 2 Kenny-Caffey syndrome 2; Gracile bone dysplasia 2 1 5 2007-02-06 Q96RS0 TGS1_HUMAN TGS1 Trimethylguanosine synthase 853 96.6 8 2.1.1.- Cytoplasm; Nucleus 0 0 2 1 5 2005-12-20 Q99075 HBEGF_HUMAN HBEGF Proheparin-binding EGF-like growth factor 208 23.1 5 Secreted 1 0 2 1 5 1994-06-01 Q99447 PCY2_HUMAN PCYT2 Ethanolamine-phosphate cytidylyltransferase 389 43.8 17 2.7.7.14 0 1 Spastic paraplegia 82, autosomal recessive 2 1 5 2001-01-24 Q99581 FEV_HUMAN FEV Protein FEV 238 25 2 Nucleus 0 1 Sudden infant death syndrome 2 1 5 2008-07-22 Q9BQ51 PD1L2_HUMAN PDCD1LG2 Programmed cell death 1 ligand 2 273 31 9 Secreted 1 0 2 1 5 2005-05-10 Q9BQ69 MACD1_HUMAN MACROD1 ADP-ribose glycohydrolase MACROD1 325 35.5 11 Nucleus 0 0 2 1 5 2003-06-16 Q9BQI0 AIF1L_HUMAN AIF1L Allograft inflammatory factor 1-like 150 17.1 9 Cytoplasm; Cell projection 0 0 2 1 5 2006-02-07 Q9BTX1 NDC1_HUMAN NDC1 Nucleoporin NDC1 674 76.3 1 Nucleus; Nucleus membrane 6 1 Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima 2 1 5 2006-05-16 Q9BVJ7 DUS23_HUMAN DUSP23 Dual specificity protein phosphatase 23 150 16.6 1 3.1.3.16, 3.1.3.48 Cytoplasm; Nucleus 0 0 2 1 5 2005-08-16 Q9BWG6 SCNM1_HUMAN SCNM1 Sodium channel modifier 1 230 25.9 1 Nucleus; Nucleus speckle 0 1 Orofaciodigital syndrome 19 2 1 5 2006-10-31 Q9BWT1 CDCA7_HUMAN CDCA7 Cell division cycle-associated protein 7 371 42.6 2 Nucleus; Cytoplasm; Chromosome 0 1 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 2 1 5 2006-09-05 Q9BY12 SCAPE_HUMAN SCAPER S phase cyclin A-associated protein in the endoplasmic reticulum 1400 158.3 15 Endoplasmic reticulum; Nucleus 0 1 Intellectual developmental disorder and retinitis pigmentosa 2 1 5 2002-05-15 Q9C0C7 AMRA1_HUMAN AMBRA1 Activating molecule in BECN1-regulated autophagy protein 1 1298 142.5 11 Endoplasmic reticulum; Cytoplasm; Cytoplasmic vesicle; Mitochondrion; Nucleus; Cell junction 0 0 2 1 5 2008-01-15 Q9H082 RB33B_HUMAN RAB33B Ras-related protein Rab-33B 229 25.7 4 3.6.5.2 Golgi apparatus membrane; Golgi apparatus; Preautophagosomal structure membrane 0 1 Smith-McCort dysplasia 2 2 1 5 2001-07-11 Q9H2X9 S12A5_HUMAN SLC12A5 Solute carrier family 12 member 5 1139 126.2 20 Cell membrane; Cell projection 12 2 Developmental and epileptic encephalopathy 34; Epilepsy, idiopathic generalized 14 2 1 5 2002-12-13 Q9H4A6 GOLP3_HUMAN GOLPH3 Golgi phosphoprotein 3 298 33.8 5 Golgi apparatus; Mitochondrion intermembrane space; Cell membrane; Endosome 0 0 2 1 5 2004-07-19 Q9H5I1 SUV92_HUMAN SUV39H2 Histone-lysine N-methyltransferase SUV39H2 410 46.7 10 2.1.1.- Nucleus; Chromosome 0 0 2 1 5 2002-11-15 Q9H6I2 SOX17_HUMAN SOX17 Transcription factor SOX-17 414 44.1 8 Nucleus 0 2 Vesicoureteral reflux 3; Pulmonary hypertension, primary, 7 2 1 5 2002-10-10 Q9H741 SPRNG_HUMAN SPRING1 SREBP regulating gene protein 205 23.6 12 Golgi apparatus membrane 1 0 2 1 5 2007-07-10 Q9H792 PEAK1_HUMAN PEAK1 Inactive tyrosine-protein kinase PEAK1 1746 193.1 15 Cytoplasm; Cell junction 0 0 2 1 5 2006-10-03 Q9H840 GEMI7_HUMAN GEMIN7 Gem-associated protein 7 131 14.5 19 Nucleus; Cytoplasm 0 0 2 1 5 2003-09-19 Q9H8Y8 GORS2_HUMAN GORASP2 Golgi reassembly-stacking protein 2 452 47.1 2 Golgi apparatus membrane; Endoplasmic reticulum membrane; Golgi apparatus 0 0 2 1 5 2004-08-16 Q9H9A5 CNO10_HUMAN CNOT10 CCR4-NOT transcription complex subunit 10 744 82.3 3 Cytoplasm; Nucleus 0 0 2 1 5 2008-01-15 Q9H9S0 NANOG_HUMAN NANOG Homeobox protein NANOG 305 34.6 12 Nucleus 0 0 2 1 5 2006-11-28 Q9HAC7 SUCHY_HUMAN SUGCT Succinyl-CoA:glutarate CoA-transferase 438 47.7 7 2.8.3.- Mitochondrion 0 1 Glutaric aciduria 3 2 1 5 2005-07-19 Q9HAI6 TASL_HUMAN TASL TLR adapter interacting with SLC15A4 on the lysosome 301 33.9 X Lysosome membrane; Endosome membrane; Nucleus; Cytoplasm 0 0 2 1 5 2006-10-03 Q9HAT8 PELI2_HUMAN PELI2 E3 ubiquitin-protein ligase pellino homolog 2 420 46.4 14 2.3.2.27 0 0 2 1 5 2003-10-24 Q9HBW1 LRRC4_HUMAN LRRC4 Leucine-rich repeat-containing protein 4 653 72.7 7 Membrane; Postsynaptic cell membrane 1 0 2 1 5 2004-08-31 Q9NRG9 AAAS_HUMAN AAAS Aladin 546 59.6 12 Nucleus; Cytoplasm; Nucleus envelope 0 1 Achalasia-addisonianism-alacrima syndrome 2 1 5 2002-03-27 Q9NUL7 DDX28_HUMAN DDX28 Probable ATP-dependent RNA helicase DDX28 540 59.6 16 3.6.4.13 Nucleus; Mitochondrion; Mitochondrion matrix 0 0 2 1 5 2006-01-10 Q9NUN7 ACER3_HUMAN ACER3 Alkaline ceramidase 3 267 31.6 11 3.5.1.-, 3.5.1.23 Endoplasmic reticulum membrane; Golgi apparatus membrane 7 1 Leukodystrophy, progressive, early childhood-onset 2 1 5 2001-08-14 Q9NUT2 MITOS_HUMAN ABCB8 Mitochondrial potassium channel ATP-binding subunit 735 80 7 Mitochondrion inner membrane 3 0 2 1 5 2001-02-21 Q9NWM0 SMOX_HUMAN SMOX Spermine oxidase 555 61.8 20 1.5.3.16 Cytoplasm; Nucleus 0 0 2 1 5 2004-07-19 Q9NWM8 FKB14_HUMAN FKBP14 Peptidyl-prolyl cis-trans isomerase FKBP14 211 24.2 7 5.2.1.8 Endoplasmic reticulum lumen 0 1 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 2 1 5 2002-10-10 Q9NXR8 ING3_HUMAN ING3 Inhibitor of growth protein 3 418 46.7 7 Nucleus 0 1 Squamous cell carcinoma of the head and neck 2 1 5 2005-02-15 Q9NZ56 FMN2_HUMAN FMN2 Formin-2 1722 180.1 1 Cytoplasm; Nucleus; Cell membrane; Cytoplasmic vesicle membrane 0 1 Intellectual developmental disorder, autosomal recessive 47 2 1 5 2001-02-21 Q9NZD1 GPC5D_HUMAN GPRC5D G protein-coupled receptor family C group 5 member D 345 38.8 12 Cell membrane 7 0 2 1 5 2004-04-13 Q9P0M6 H2AW_HUMAN MACROH2A2 Core histone macro-H2A.2 372 40.1 10 Nucleus; Chromosome 0 0 2 1 5 2001-01-24 Q9P121 NTRI_HUMAN NTM Neurotrimin 344 38 11 Cell membrane 0 0 2 1 5 2002-12-13 Q9P1W8 SIRPG_HUMAN SIRPG Signal-regulatory protein gamma 387 42.5 20 Membrane 1 0 2 1 5 2003-03-28 Q9UBR1 BUP1_HUMAN UPB1 Beta-ureidopropionase 384 43.2 22 3.5.1.6 Cytoplasm 0 1 Beta-ureidopropionase deficiency 2 1 5 2001-09-26 Q9UDT6 CLIP2_HUMAN CLIP2 CAP-Gly domain-containing linker protein 2 1046 115.8 7 Cytoplasm 0 0 2 1 5 2005-09-27 Q9UEE5 ST17A_HUMAN STK17A Serine/threonine-protein kinase 17A 414 46.6 7 2.7.11.1 Nucleus 0 0 2 1 5 2001-06-20 Q9UH73 COE1_HUMAN EBF1 Transcription factor COE1 591 64.5 5 Nucleus 0 0 2 1 5 2002-11-28 Q9UJW0 DCTN4_HUMAN DCTN4 Dynactin subunit 4 460 52.3 5 Cytoplasm 0 0 2 1 5 2005-04-26 Q9ULJ8 NEB1_HUMAN PPP1R9A Neurabin-1 1098 123.3 7 Cytoplasm; Synapse 0 0 2 1 5 2001-04-27 Q9ULV5 HSF4_HUMAN HSF4 Heat shock factor protein 4 492 53 16 Nucleus 0 1 Cataract 5, multiple types 2 1 5 2001-01-11 Q9ULX7 CAH14_HUMAN CA14 Carbonic anhydrase 14 337 37.7 1 4.2.1.1 Membrane 1 0 2 1 5 2000-12-01 Q9ULY5 CLC4E_HUMAN CLEC4E C-type lectin domain family 4 member E 219 25.1 12 Cell membrane; Cell projection 1 0 2 1 5 2005-02-15 Q9Y266 NUDC_HUMAN NUDC Nuclear migration protein nudC 331 38.2 1 Cytoplasm; Nucleus; Midbody 0 0 2 1 5 2005-03-29 Q9Y2W2 WBP11_HUMAN WBP11 WW domain-binding protein 11 641 70 12 Nucleus; Cytoplasm 0 1 Vertebral, cardiac, tracheoesophageal, renal, and limb defects 2 1 5 2005-09-13 Q9Y3S1 WNK2_HUMAN WNK2 Serine/threonine-protein kinase WNK2 2297 242.7 9 2.7.11.1 Cytoplasm; Cell membrane 0 0 2 1 5 2004-02-02 Q9Y3V2 RWDD3_HUMAN RWDD3 RWD domain-containing protein 3 267 30.5 1 Nucleus; Cytoplasm 0 0 2 1 5 2003-08-15 Q9Y4H2 IRS2_HUMAN IRS2 Insulin receptor substrate 2 1338 137.3 13 Cytoplasm 0 0 2 1 5 2000-05-30 Q9Y4W6 AFG32_HUMAN AFG3L2 Mitochondrial inner membrane m-AAA protease component AFG3L2 797 88.6 18 3.4.24.-, 3.6.-.- Mitochondrion inner membrane 2 3 Spinocerebellar ataxia 28; Spastic ataxia 5, autosomal recessive; Optic atrophy 12 2 1 5 2001-04-27 Q9Y6C2 EMIL1_HUMAN EMILIN1 EMILIN-1 1016 106.7 2 Secreted 0 2 Neuronopathy, distal hereditary motor, autosomal dominant 10; Arterial tortuosity-bone fragility syndrome 2 1 5 2003-10-03 A6NIH7 U119B_HUMAN UNC119B Protein unc-119 homolog B 251 28.1 12 Cell projection 0 0 2 1 5 2008-05-20 O00175 CCL24_HUMAN CCL24 C-C motif chemokine 24 119 13.1 7 Secreted 0 0 2 1 5 1999-07-15 O00241 SIRB1_HUMAN SIRPB1 Signal-regulatory protein beta-1 398 43.2 20 Cell membrane 1 0 2 1 5 2002-09-19 O14773 TPP1_HUMAN TPP1 Tripeptidyl-peptidase 1 563 61.2 11 3.4.14.9 Lysosome; Melanosome 0 2 Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia, autosomal recessive, 7 2 1 5 1998-12-15 O15409 FOXP2_HUMAN FOXP2 Forkhead box protein P2 715 79.9 7 Nucleus 0 1 Speech-language disorder 1 2 1 5 2001-12-05 O15516 CLOCK_HUMAN CLOCK Circadian locomoter output cycles protein kaput 846 95.3 4 2.3.1.48 Nucleus; Cytoplasm 0 0 2 1 5 1999-07-15 O43156 TTI1_HUMAN TTI1 TELO2-interacting protein 1 homolog 1089 122.1 20 Cytoplasm 0 1 Neurodevelopmental disorder with microcephaly and movement abnormalities 2 1 5 2002-10-10 O43497 CAC1G_HUMAN CACNA1G Voltage-dependent T-type calcium channel subunit alpha-1G 2377 262.5 17 Cell membrane; Cytoplasm 24 2 Spinocerebellar ataxia 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2 1 5 1999-07-15 O43896 KIF1C_HUMAN KIF1C Kinesin-like protein KIF1C 1103 122.9 17 Cytoplasm 0 1 Spastic ataxia 2, autosomal recessive 2 1 5 1998-12-15 O60343 TBCD4_HUMAN TBC1D4 TBC1 domain family member 4 1298 146.6 13 Cytoplasm 0 1 Type 2 diabetes mellitus 5 2 1 5 2002-10-10 O60443 GSDME_HUMAN GSDME Gasdermin-E 496 54.6 7 Cell membrane 0 1 Deafness, autosomal dominant, 5 2 1 5 2001-02-21 O60507 TPST1_HUMAN TPST1 Protein-tyrosine sulfotransferase 1 370 42.2 7 2.8.2.20 Golgi apparatus membrane 1 0 2 1 5 2000-05-30 O60602 TLR5_HUMAN TLR5 Toll-like receptor 5 858 97.8 1 Cell membrane 1 1 Systemic lupus erythematosus 1 2 1 5 2002-01-31 O60684 IMA7_HUMAN KPNA6 Importin subunit alpha-7 536 60 1 0 0 2 1 5 2004-03-15 O60861 GAS7_HUMAN GAS7 Growth arrest-specific protein 7 476 54.4 17 Cytoplasm 0 0 2 1 5 2001-01-11 O75113 N4BP1_HUMAN N4BP1 NEDD4-binding protein 1 896 100.4 16 3.1.-.- Cytoplasm; Nucleus 0 0 2 1 5 2004-03-15 O75144 ICOSL_HUMAN ICOSLG ICOS ligand 302 33.3 21 Cell membrane 1 1 Immunodeficiency 119 2 1 5 1999-07-15 O75569 PRKRA_HUMAN PRKRA Interferon-inducible double-stranded RNA-dependent protein kinase activator A 313 34.4 2 Cytoplasm 0 1 Dystonia 16 2 1 5 2006-02-21 O75593 FOXH1_HUMAN FOXH1 Forkhead box protein H1 365 39.3 8 Nucleus 0 0 2 1 5 2000-05-30 O94761 RECQ4_HUMAN RECQL4 ATP-dependent DNA helicase Q4 1208 133.1 8 5.6.2.4 Cytoplasm; Nucleus 0 3 RAPADILINO syndrome; Baller-Gerold syndrome; Rothmund-Thomson syndrome 2 2 1 5 2000-05-30 O94856 NFASC_HUMAN NFASC Neurofascin 1347 150 1 Cell membrane 1 1 Neurodevelopmental disorder with central and peripheral motor dysfunction 2 1 5 2003-11-14 O94929 ABLM3_HUMAN ABLIM3 Actin-binding LIM protein 3 683 77.8 5 Cytoplasm 0 0 2 1 5 2004-12-07 O94979 SC31A_HUMAN SEC31A Protein transport protein Sec31A 1220 133 4 Cytoplasm; Cytoplasmic vesicle; Endoplasmic reticulum membrane 0 1 Halperin-Birk syndrome 2 1 5 2007-07-10 O95198 KLHL2_HUMAN KLHL2 Kelch-like protein 2 593 66 4 Cytoplasm; Cell projection 0 0 2 1 5 2001-04-27 O95202 LETM1_HUMAN LETM1 Mitochondrial proton/calcium exchanger protein 739 83.4 4 Mitochondrion inner membrane 1 1 Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 2 1 5 2005-04-12 O95238 SPDEF_HUMAN SPDEF SAM pointed domain-containing Ets transcription factor 335 37.5 6 Nucleus 0 0 2 1 5 2006-02-21 O95347 SMC2_HUMAN SMC2 Structural maintenance of chromosomes protein 2 1197 135.7 9 Nucleus; Cytoplasm; Chromosome 0 0 2 1 5 2003-04-23 O95425 SVIL_HUMAN SVIL Supervillin 2214 247.7 10 Cell membrane; Cytoplasm; Cell projection; Midbody; Cleavage furrow 0 1 Myopathy, myofibrillar, 10 2 1 5 2005-01-04 O95503 CBX6_HUMAN CBX6 Chromobox protein homolog 6 412 43.9 22 Nucleus; Chromosome 0 0 2 1 5 2001-08-29 O95628 CNOT4_HUMAN CNOT4 CCR4-NOT transcription complex subunit 4 575 63.5 7 2.3.2.27 Cytoplasm; Nucleus 0 0 2 1 5 2004-04-13 O95707 RPP29_HUMAN POP4 Ribonuclease P protein subunit p29 220 25.4 19 Nucleus 0 0 2 1 5 2000-05-30 O95727 CRTAM_HUMAN CRTAM Cytotoxic and regulatory T-cell molecule 393 44.6 11 Cell membrane 1 0 2 1 5 2007-06-26 O95822 DCMC_HUMAN MLYCD Malonyl-CoA decarboxylase, mitochondrial 493 55 16 4.1.1.9 Cytoplasm; Mitochondrion matrix; Peroxisome; Peroxisome matrix 0 1 Malonyl-CoA decarboxylase deficiency 2 1 5 2000-12-01 P00326 ADH1G_HUMAN ADH1C Alcohol dehydrogenase 1C 375 39.9 4 1.1.1.1 Cytoplasm 0 0 2 1 5 1986-07-21 P00813 ADA_HUMAN ADA Adenosine deaminase 363 40.8 20 3.5.4.4 Cell membrane; Cell junction; Cytoplasmic vesicle lumen; Cytoplasm; Lysosome 0 1 Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency 2 1 5 1986-07-21 P02008 HBAZ_HUMAN HBZ Hemoglobin subunit zeta 142 15.6 16 0 0 2 1 5 1986-07-21 P02533 K1C14_HUMAN KRT14 Keratin, type I cytoskeletal 14 472 51.6 17 Cytoplasm; Nucleus 0 6 Epidermolysis bullosa simplex 1A, generalized severe; Epidermolysis bullosa simplex 1C, localized; Epidermolysis bullosa simplex 1B, generalized intermediate; Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive; Naegeli-Franceschetti-Jadassohn syndrome; Dermatopathia pigmentosa reticularis 2 1 5 1986-07-21 P06732 KCRM_HUMAN CKM Creatine kinase M-type 381 43.1 19 2.7.3.2 Cytoplasm 0 0 2 1 5 1988-01-01 P08842 STS_HUMAN STS Steryl-sulfatase 583 65.5 X 3.1.6.2 Cytoplasmic vesicle; Endoplasmic reticulum membrane 2 1 Ichthyosis, X-linked 2 1 5 1988-11-01 P08912 ACM5_HUMAN CHRM5 Muscarinic acetylcholine receptor M5 532 60.1 15 Cell membrane; Postsynaptic cell membrane 7 0 2 1 5 1988-11-01 P09110 THIK_HUMAN ACAA1 3-ketoacyl-CoA thiolase, peroxisomal 424 44.3 3 2.3.1.16 Peroxisome 0 0 2 1 5 1989-07-01 P10074 ZBT48_HUMAN ZBTB48 Zinc finger and BTB domain-containing protein 48 688 77.1 1 Nucleus; Chromosome 0 0 2 1 5 1989-07-01 P10301 RRAS_HUMAN RRAS Ras-related protein R-Ras 218 23.5 19 3.6.5.2 Cell membrane 0 0 2 1 5 1989-07-01 P11684 UTER_HUMAN SCGB1A1 Uteroglobin 91 10 11 Secreted 0 0 2 1 5 1989-10-01 P14770 GPIX_HUMAN GP9 Platelet glycoprotein IX 177 19 3 Membrane 1 1 Bernard-Soulier syndrome 2 1 5 1990-04-01 P15086 CBPB1_HUMAN CPB1 Carboxypeptidase B 417 47.4 3 3.4.17.2 Secreted; Zymogen granule lumen 0 0 2 1 5 1990-04-01 P18089 ADA2B_HUMAN ADRA2B Alpha-2B adrenergic receptor 450 50 2 Cell membrane 7 1 Epilepsy, familial adult myoclonic, 2 2 1 5 1990-11-01 P21399 ACOHC_HUMAN ACO1 Cytoplasmic aconitate hydratase 889 98.4 9 4.2.1.3 Cytoplasm 0 0 2 1 5 1991-05-01 P23508 CRCM_HUMAN MCC Colorectal mutant cancer protein 829 93 5 Cell membrane; Cell projection; Nucleus; Cytoplasm 0 0 2 1 5 1991-11-01 P25189 MYP0_HUMAN MPZ Myelin protein P0 248 27.6 1 Cell membrane 1 8 Charcot-Marie-Tooth disease, demyelinating, type 1B; Charcot-Marie-Tooth disease, axonal, type 2I; Charcot-Marie-Tooth disease, axonal, type 2J; Adie pupil; Charcot-Marie-Tooth disease, dominant intermediate D; Dejerine-Sottas syndrome; Roussy-Levy syndrome; Neuropathy, congenital hypomyelinating, 2 2 1 5 1992-05-01 P26378 ELAV4_HUMAN ELAVL4 ELAV-like protein 4 385 42.4 1 Cytoplasm; Perikaryon; Cell projection 0 0 2 1 5 1992-08-01 P26441 CNTF_HUMAN CNTF Ciliary neurotrophic factor 200 22.9 11 Cytoplasm; Secreted 0 0 2 1 5 1992-08-01 P32249 GP183_HUMAN GPR183 G protein-coupled receptor 183 361 41.2 13 Cell membrane 7 0 2 1 5 1993-10-01 P33260 CP2CI_HUMAN CYP2C18 Cytochrome P450 2C18 490 55.7 10 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 2 1 5 1994-02-01 P35606 COPB2_HUMAN COPB2 Coatomer subunit beta' 906 102.5 3 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle 0 2 Microcephaly 19, primary, autosomal recessive; Osteoporosis, childhood- or juvenile-onset, with developmental delay 2 1 5 1994-06-01 P41229 KDM5C_HUMAN KDM5C Lysine-specific demethylase 5C 1560 175.7 X 1.14.11.67 Nucleus 0 1 Intellectual developmental disorder, X-linked, syndromic, Claes-Jensen type 2 1 5 1995-02-01 P41271 NBL1_HUMAN NBL1 Neuroblastoma suppressor of tumorigenicity 1 181 19.4 1 Secreted 0 0 2 1 5 1995-02-01 P48637 GSHB_HUMAN GSS Glutathione synthetase 474 52.4 20 6.3.2.3 0 2 Glutathione synthetase deficiency; Anemia, congenital, non-spherocytic hemolytic, 6 2 1 5 1996-02-01 P48788 TNNI2_HUMAN TNNI2 Troponin I, fast skeletal muscle 182 21.3 11 0 1 Arthrogryposis, distal, 2B1 2 1 5 1996-02-01 P49411 EFTU_HUMAN TUFM Elongation factor Tu, mitochondrial 455 49.9 16 3.6.5.3 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 4 2 1 5 1996-02-01 P49915 GUAA_HUMAN GMPS GMP synthase [glutamine-hydrolyzing] 693 76.7 3 6.3.5.2 Cytoplasm 0 0 2 1 5 1996-10-01 P51580 TPMT_HUMAN TPMT Thiopurine S-methyltransferase 245 28.2 6 2.1.1.67 Cytoplasm 0 0 2 1 5 1996-10-01 P52788 SPSY_HUMAN SMS Spermine synthase 366 41.3 X 2.5.1.22 0 1 Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type 2 1 5 1996-10-01 P52945 PDX1_HUMAN PDX1 Pancreas/duodenum homeobox protein 1 283 30.8 13 Nucleus; Cytoplasm 0 3 Pancreatic agenesis 1; Type 2 diabetes mellitus; Maturity-onset diabetes of the young 4 2 1 5 1996-10-01 P54756 EPHA5_HUMAN EPHA5 Ephrin type-A receptor 5 1037 114.8 4 2.7.10.1 Cell membrane; Cell projection 1 0 2 1 5 1996-10-01 P57729 RAB38_HUMAN RAB38 Ras-related protein Rab-38 211 23.7 11 3.6.5.2 Cell membrane; Melanosome; Cytoplasmic vesicle; Melanosome membrane 0 0 2 1 5 2001-01-11 P58012 FOXL2_HUMAN FOXL2 Forkhead box protein L2 376 38.8 3 Nucleus 0 2 Blepharophimosis, ptosis, and epicanthus inversus syndrome; Premature ovarian failure 3 2 1 5 2001-04-27 P62256 UBE2H_HUMAN UBE2H Ubiquitin-conjugating enzyme E2 H 183 20.7 7 2.3.2.23 0 0 2 1 5 2004-07-05 P69891 HBG1_HUMAN HBG1 Hemoglobin subunit gamma-1 147 16.1 11 0 0 2 1 5 1986-07-21 P78345 RPP38_HUMAN RPP38 Ribonuclease P protein subunit p38 283 31.8 10 Nucleus 0 0 2 1 5 2001-02-21 P80162 CXCL6_HUMAN CXCL6 C-X-C motif chemokine 6 114 11.9 4 Secreted 0 0 2 1 5 1993-04-01 Q00536 CDK16_HUMAN CDK16 Cyclin-dependent kinase 16 496 55.7 X 2.7.11.22 Cytoplasm; Cytoplasmic vesicle; Cell membrane; Synapse 0 0 2 1 5 1993-04-01 Q00722 PLCB2_HUMAN PLCB2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 1185 134 15 3.1.4.11 0 0 2 1 5 1993-07-01 Q01167 FOXK2_HUMAN FOXK2 Forkhead box protein K2 660 69.1 17 Nucleus; Cytoplasm 0 0 2 1 5 1993-04-01 Q01524 DEF6_HUMAN DEFA6 Defensin-6 100 11 8 Secreted; Cytoplasmic vesicle 0 0 2 1 5 1993-07-01 Q02156 KPCE_HUMAN PRKCE Protein kinase C epsilon type 737 83.7 2 2.7.11.13 Cytoplasm; Cell membrane; Nucleus 0 0 2 1 5 1993-07-01 Q05655 KPCD_HUMAN PRKCD Protein kinase C delta type 676 77.5 3 2.7.11.13 Cytoplasm; Nucleus; Cell membrane; Mitochondrion; Endomembrane system 0 1 Autoimmune lymphoproliferative syndrome 3 2 1 5 1994-06-01 Q06190 P2R3A_HUMAN PPP2R3A Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha 1150 130.3 3 0 0 2 1 5 1994-06-01 Q07352 TISB_HUMAN ZFP36L1 mRNA decay activator protein ZFP36L1 338 36.3 14 Nucleus; Cytoplasm; Cytoplasmic granule 0 0 2 1 5 1996-02-01 Q08116 RGS1_HUMAN RGS1 Regulator of G protein signaling 1 209 23.9 1 Cell membrane; Cytoplasm 0 0 2 1 5 1995-02-01 Q08495 DEMA_HUMAN DMTN Dematin 405 45.5 8 Cytoplasm; Cell membrane; Membrane; Endomembrane system; Cell projection 0 0 2 1 5 1994-10-01 Q08999 RBL2_HUMAN RBL2 Retinoblastoma-like protein 2 1139 128.4 16 Nucleus 0 1 Brunet-Wagner neurodevelopmental syndrome 2 1 5 1995-11-01 Q12929 EPS8_HUMAN EPS8 Epidermal growth factor receptor kinase substrate 8 822 91.9 12 Cytoplasm; Cell projection; Synapse 0 1 Deafness, autosomal recessive, 102 2 1 5 1997-11-01 Q13002 GRIK2_HUMAN GRIK2 Glutamate receptor ionotropic, kainate 2 908 102.6 6 Cell membrane; Postsynaptic cell membrane 3 2 Intellectual developmental disorder, autosomal recessive 6; Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 2 1 5 1997-11-01 Q13007 IL24_HUMAN IL24 Interleukin-24 206 23.8 1 Secreted 0 0 2 1 5 1997-11-01 Q13029 PRDM2_HUMAN PRDM2 PR domain zinc finger protein 2 1718 188.9 1 2.1.1.- Nucleus 0 0 2 1 5 2002-11-08 Q13049 TRI32_HUMAN TRIM32 E3 ubiquitin-protein ligase TRIM32 653 72 9 2.3.2.27 Cytoplasm; Mitochondrion; Endoplasmic reticulum 0 2 Muscular dystrophy, limb-girdle, autosomal recessive 8; Bardet-Biedl syndrome 11 2 1 5 1997-11-01 Q13394 MB211_HUMAN MAB21L1 Putative nucleotidyltransferase MAB21L1 359 41 13 2.7.7.- Nucleus 0 1 Cerebellar, ocular, craniofacial, and genital syndrome 2 1 5 2007-12-04 Q13438 OS9_HUMAN OS9 Protein OS-9 667 75.6 12 Endoplasmic reticulum lumen 0 0 2 1 5 1998-07-15 Q13555 KCC2G_HUMAN CAMK2G Calcium/calmodulin-dependent protein kinase type II subunit gamma 558 62.6 10 2.7.11.17 Sarcoplasmic reticulum membrane 0 1 Intellectual developmental disorder, autosomal dominant 59 2 1 5 1997-11-01 Q13561 DCTN2_HUMAN DCTN2 Dynactin subunit 2 401 44.2 12 Cytoplasm; Membrane 0 0 2 1 5 1997-11-01 Q14697 GANAB_HUMAN GANAB Neutral alpha-glucosidase AB 944 106.9 11 3.2.1.207 Endoplasmic reticulum; Golgi apparatus; Melanosome 0 1 Polycystic kidney disease 3 with or without polycystic liver disease 2 1 5 2004-07-05 Q147X3 NAA30_HUMAN NAA30 N-alpha-acetyltransferase 30 362 39.3 14 2.3.1.256 Cytoplasm; Nucleus 0 0 2 1 5 2008-02-26 Q14814 MEF2D_HUMAN MEF2D Myocyte-specific enhancer factor 2D 521 55.9 1 Nucleus 0 0 2 1 5 1997-11-01 Q14994 NR1I3_HUMAN NR1I3 Nuclear receptor subfamily 1 group I member 3 352 39.9 1 Nucleus; Cytoplasm 0 0 2 1 5 1999-07-15 Q15052 ARHG6_HUMAN ARHGEF6 Rho guanine nucleotide exchange factor 6 776 87.5 X Cell projection 0 0 2 1 5 2001-09-26 Q15208 STK38_HUMAN STK38 Serine/threonine-protein kinase 38 465 54.2 6 2.7.11.1 Nucleus; Cytoplasm; Chromosome 0 0 2 1 5 2004-12-21 Q15438 CYH1_HUMAN CYTH1 Cytohesin-1 398 46.4 17 Cell membrane; Cytoplasm; Cell junction 0 0 2 1 5 1997-11-01 Q16280 CNGA2_HUMAN CNGA2 Cyclic nucleotide-gated channel alpha-2 664 76 X Cell projection 7 0 2 1 5 1997-11-01 Q16760 DGKD_HUMAN DGKD Diacylglycerol kinase delta 1214 134.5 2 2.7.1.107 Membrane; Cytoplasm 0 0 2 1 5 1997-11-01 Q1HG43 DOXA1_HUMAN DUOXA1 Dual oxidase maturation factor 1 343 37.8 15 Apical cell membrane 5 0 2 1 5 2006-12-12 Q2Q1W2 LIN41_HUMAN TRIM71 E3 ubiquitin-protein ligase TRIM71 868 93.4 3 2.3.2.27 Cytoplasm 0 1 Hydrocephalus, congenital, 4 2 1 5 2007-03-06 Q2TAL8 QRIC1_HUMAN QRICH1 Transcriptional regulator QRICH1 776 86.4 3 Nucleus; Chromosome; Cytoplasm; Cell membrane 0 1 Ververi-Brady syndrome 1 2 1 5 2007-01-09 Q3KRA9 ALKB6_HUMAN ALKBH6 Probable RNA/DNA demethylase ALKBH6 238 26.5 19 1.14.11.- Cytoplasm; Nucleus 0 0 2 1 5 2008-03-18 Q4G0P3 HYDIN_HUMAN HYDIN Axonemal central pair apparatus protein HYDIN 5121 575.9 16 Cell projection; Cytoplasm 0 1 Ciliary dyskinesia, primary, 5 2 1 5 2007-04-17 Q56A73 SPIN4_HUMAN SPIN4 Spindlin-4 249 28.7 X Cytoplasm; Nucleus 0 1 Lui-Jee-Baron syndrome 2 1 5 2008-01-15 Q5BN46 PIRC1_HUMAN PIERCE1 Piercer of microtubule wall 1 protein 136 15.3 9 Cytoplasm 0 0 2 1 5 2005-07-05 Q5TAQ9 DCAF8_HUMAN DCAF8 DDB1- and CUL4-associated factor 8 597 66.9 1 Nucleus; Cytoplasm 0 1 Giant axonal neuropathy 2, autosomal dominant 2 1 5 2007-07-24 Q5XUX0 FBX31_HUMAN FBXO31 F-box only protein 31 539 60.7 16 Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 45 2 1 5 2005-02-15 Q6PJ21 SPSB3_HUMAN SPSB3 SPRY domain-containing SOCS box protein 3 355 39.4 16 Nucleus 0 0 2 1 5 2007-02-20 Q6PRD1 GP179_HUMAN GPR179 Probable G protein-coupled receptor 179 2367 257.4 Cell membrane; Postsynaptic cell membrane; Cell projection 7 1 Night blindness, congenital stationary, 1E 2 1 5 2006-01-10 Q6UWK7 GP15L_HUMAN GPR15LG Protein GPR15LG 81 9.2 10 Secreted 0 0 2 1 5 2006-11-28 Q6V0I7 FAT4_HUMAN FAT4 Protocadherin Fat 4 4981 542.7 4 Membrane 1 2 Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2 1 5 2008-03-18 Q6ZQR2 CFA77_HUMAN CFAP77 Cilia- and flagella-associated protein 77 320 36.5 9 Cytoplasm; Cell projection 0 0 2 1 5 2008-03-18 Q6ZVK8 NUD18_HUMAN NUDT18 8-oxo-dGDP phosphatase NUDT18 323 35.5 8 3.6.1.58, 3.6.1.68, 3.6.1.76 0 0 2 1 5 2008-03-18 Q7LDG7 GRP2_HUMAN RASGRP2 RAS guanyl-releasing protein 2 609 69.2 11 Cytoplasm; Cell membrane; Synapse; Cell projection 0 1 Bleeding disorder, platelet-type, 18 2 1 5 2008-01-15 Q7RTR0 NLRP9_HUMAN NLRP9 NACHT, LRR and PYD domains-containing protein 9 991 113.3 19 Cytoplasm; Inflammasome 0 0 2 1 5 2007-05-01 Q7Z2G1 H2BWT_HUMAN H2BW1 Histone H2B type W-T 153 17.1 X Nucleus membrane; Chromosome 0 0 2 1 5 2006-07-11 Q7Z3B3 KANL1_HUMAN KANSL1 KAT8 regulatory NSL complex subunit 1 1105 121 17 Nucleus; Chromosome; Mitochondrion; Cytoplasm 0 1 Koolen-De Vries syndrome 2 1 5 2006-05-16 Q7Z478 DHX29_HUMAN DHX29 ATP-dependent RNA helicase DHX29 1369 155.2 5 3.6.4.13 Cytoplasm 0 0 2 1 5 2006-07-11 Q7Z628 ARHG8_HUMAN NET1 Neuroepithelial cell-transforming gene 1 protein 596 67.7 10 Cytoplasm; Nucleus 0 0 2 1 5 2004-09-27 Q86U06 RBM23_HUMAN RBM23 Probable RNA-binding protein 23 439 48.7 14 Nucleus 0 0 2 1 5 2003-09-19 Q86YN6 PRGC2_HUMAN PPARGC1B Peroxisome proliferator-activated receptor gamma coactivator 1-beta 1023 113.2 5 Nucleus 0 0 2 1 5 2006-06-13 Q8IVH4 MMAA_HUMAN MMAA Methylmalonic aciduria type A protein, mitochondrial 418 46.5 4 3.6.-.- Mitochondrion; Cytoplasm 0 1 Methylmalonic aciduria, cblA type 2 1 5 2003-11-07 Q8IYX4 DND1_HUMAN DND1 Dead end protein homolog 1 353 38.7 5 Nucleus; Cytoplasm 0 0 2 1 5 2005-03-01 Q8IZF6 AGRG4_HUMAN ADGRG4 Adhesion G protein-coupled receptor G4 3080 333.4 X Membrane 7 0 2 1 5 2004-08-31 Q8N6T3 ARFG1_HUMAN ARFGAP1 ADP-ribosylation factor GTPase-activating protein 1 406 44.7 20 Golgi apparatus; Cytoplasm 0 0 2 1 5 2003-01-27 Q8N7U6 EFHB_HUMAN EFHB EF-hand domain-containing family member B 833 93.8 3 Cytoplasm 0 0 2 1 5 2006-10-03 Q8NDV7 TNR6A_HUMAN TNRC6A Trinucleotide repeat-containing gene 6A protein 1962 210.3 16 Cytoplasm 0 1 Epilepsy, familial adult myoclonic, 6 2 1 5 2005-03-29 Q8NEU8 DP13B_HUMAN APPL2 DCC-interacting protein 13-beta 664 74.5 12 Early endosome membrane; Nucleus; Cell membrane; Endosome membrane; Cytoplasm; Cytoplasmic vesicle; Cell projection 0 0 2 1 5 2005-03-15 Q8NFF5 FAD1_HUMAN FLAD1 Bifunctional FAD diphosphatase/FAD synthase 587 65.3 1 Nucleus 0 1 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 2 1 5 2007-09-11 Q8TCE9 PPL13_HUMAN LGALS14 Placental protein 13-like 139 16.1 19 Nucleus 0 0 2 1 5 2004-01-16 Q8WXI8 CLC4D_HUMAN CLEC4D C-type lectin domain family 4 member D 215 24.7 12 Cell membrane 1 0 2 1 5 2005-02-15 Q92499 DDX1_HUMAN DDX1 ATP-dependent RNA helicase DDX1 740 82.4 2 3.6.4.13 Nucleus; Cytoplasm; Cytoplasmic granule; Mitochondrion 0 0 2 1 5 2000-05-30 Q92530 PSMF1_HUMAN PSMF1 Proteasome inhibitor PI31 subunit 271 29.8 20 Cytoplasm; Endoplasmic reticulum 0 0 2 1 5 2001-09-26 Q969E3 UCN3_HUMAN UCN3 Urocortin-3 161 18 10 Secreted 0 0 2 1 5 2002-05-10 Q96AP4 ZUP1_HUMAN ZUP1 Zinc finger-containing ubiquitin peptidase 1 578 66 6 3.4.19.12 Cytoplasm; Nucleus 0 0 2 1 5 2006-06-27 Q96BD6 SPSB1_HUMAN SPSB1 SPRY domain-containing SOCS box protein 1 273 30.9 1 Cytoplasm 0 0 2 1 5 2006-05-30 Q96C23 GALM_HUMAN GALM Galactose mutarotase 342 37.8 2 5.1.3.3 Cytoplasm 0 1 Galactosemia 4 2 1 5 2005-05-10 Q96C45 ULK4_HUMAN ULK4 Inactive serine/threonine-protein kinase ULK4 1275 142.4 3 Cell projection 0 0 2 1 5 2006-11-28 Q96CS7 PKHB2_HUMAN PLEKHB2 Pleckstrin homology domain-containing family B member 2 222 24.7 2 Recycling endosome membrane 0 0 2 1 5 2004-03-29 Q96D31 ORAI1_HUMAN ORAI1 Calcium release-activated calcium channel protein 1 301 32.7 12 Cell membrane; Basolateral cell membrane 4 2 Immunodeficiency 9; Myopathy, tubular aggregate, 2 2 1 5 2006-05-16 Q96FZ7 CHMP6_HUMAN CHMP6 Charged multivesicular body protein 6 201 23.5 17 Endomembrane system; Endosome membrane; Late endosome membrane; Membrane 0 0 2 1 5 2005-08-30 Q96I15 SCLY_HUMAN SCLY Selenocysteine lyase 445 48.1 2 4.4.1.16 Cytoplasm 0 0 2 1 5 2008-02-05 Q96IV0 NGLY1_HUMAN NGLY1 Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase 654 74.4 3 3.5.1.52 Cytoplasm 0 1 Congenital disorder of deglycosylation 1 2 1 5 2006-09-05 Q96KC8 DNJC1_HUMAN DNAJC1 DnaJ homolog subfamily C member 1 554 63.9 10 Endoplasmic reticulum membrane; Nucleus membrane; Microsome membrane 1 0 2 1 5 2003-01-17 Q96L34 MARK4_HUMAN MARK4 MAP/microtubule affinity-regulating kinase 4 752 82.5 19 2.7.11.1 Cytoplasm; Cell projection 0 0 2 1 5 2003-02-28 Q96LW7 CAR19_HUMAN CARD19 Caspase recruitment domain-containing protein 19 228 25.6 9 Nucleus 0 0 2 1 5 2005-08-02 Q96M91 CFA53_HUMAN CFAP53 Cilia- and flagella-associated protein 53 514 61.8 18 Cytoplasm; Cell projection 0 1 Heterotaxy, visceral, 6, autosomal 2 1 5 2005-03-15 Q96NW7 LRRC7_HUMAN LRRC7 Leucine-rich repeat-containing protein 7 1575 177.1 1 Cytoplasm; Postsynaptic density; Cell projection; Postsynapse 0 1 Intellectual developmental disorder, autosomal dominant 77 2 1 5 2004-07-19 Q96PV6 LENG8_HUMAN LENG8 Leukocyte receptor cluster member 8 800 88.2 19 0 0 2 1 5 2007-10-02 Q96QC0 PP1RA_HUMAN PPP1R10 Serine/threonine-protein phosphatase 1 regulatory subunit 10 940 99.1 6 Nucleus; Chromosome 0 0 2 1 5 2005-03-15 Q96RD9 FCRL5_HUMAN FCRL5 Fc receptor-like protein 5 977 106.4 1 Cell membrane 1 0 2 1 5 2006-03-07 Q96RP3 UCN2_HUMAN UCN2 Urocortin-2 112 12.1 3 Secreted 0 0 2 1 5 2002-05-10 Q99081 HTF4_HUMAN TCF12 Transcription factor 12 682 73 15 Nucleus 0 2 Craniosynostosis 3; Hypogonadotropic hypogonadism 26 with or without anosmia 2 1 5 1996-10-01 Q99575 POP1_HUMAN POP1 Ribonucleases P/MRP protein subunit POP1 1024 114.7 8 Nucleus 0 1 Anauxetic dysplasia 2 2 1 5 2001-02-21 Q99665 I12R2_HUMAN IL12RB2 Interleukin-12 receptor subunit beta-2 862 97.1 1 Membrane 1 0 2 1 5 2000-12-01 Q99784 NOE1_HUMAN OLFM1 Noelin 485 55.3 9 Secreted; Synapse; Endoplasmic reticulum; Cell projection; Perikaryon 0 0 2 1 5 1998-07-15 Q99856 ARI3A_HUMAN ARID3A AT-rich interactive domain-containing protein 3A 593 62.9 19 Nucleus; Cytoplasm 0 0 2 1 5 2001-01-11 Q99956 DUS9_HUMAN DUSP9 Dual specificity protein phosphatase 9 384 41.9 X 3.1.3.16, 3.1.3.48 Cytoplasm 0 0 2 1 5 1998-12-15 Q9BR39 JPH2_HUMAN JPH2 Junctophilin-2 696 74.2 20 Cell membrane; Sarcoplasmic reticulum membrane; Endoplasmic reticulum membrane 1 2 Cardiomyopathy, familial hypertrophic, 17; Cardiomyopathy, dilated, 2E 2 1 5 2003-01-17 Q9BU02 THTPA_HUMAN THTPA Thiamine-triphosphatase 230 25.6 14 3.6.1.28 Cytoplasm 0 0 2 1 5 2003-10-03 Q9BXL7 CAR11_HUMAN CARD11 Caspase recruitment domain-containing protein 11 1154 133.3 7 Cytoplasm; Membrane raft 0 3 B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11 A; Immunodeficiency 11B with atopic dermatitis 2 1 5 2002-01-31 Q9BY43 CHM4A_HUMAN CHMP4A Charged multivesicular body protein 4a 222 25.1 14 Cytoplasmic vesicle membrane; Late endosome membrane 0 0 2 1 5 2002-11-01 Q9BYE9 CDHR2_HUMAN CDHR2 Cadherin-related family member 2 1310 141.5 5 Apical cell membrane; Cell projection; Cell junction 1 0 2 1 5 2005-03-29 Q9BZY9 TRI31_HUMAN TRIM31 E3 ubiquitin-protein ligase TRIM31 425 48.2 6 2.3.2.27 Cytoplasm; Mitochondrion 0 0 2 1 5 2002-06-06 Q9GZU8 PIP30_HUMAN PSME3IP1 PSME3-interacting protein 254 28.9 16 Nucleus 0 0 2 1 5 2004-04-26 Q9H0B6 KLC2_HUMAN KLC2 Kinesin light chain 2 622 68.9 11 Cytoplasm; Lysosome membrane 0 1 Spastic paraplegia, optic atrophy, and neuropathy 2 1 5 2001-04-27 Q9H0E2 TOLIP_HUMAN TOLLIP Toll-interacting protein 274 30.3 11 Cytoplasm; Endosome; Early endosome 0 0 2 1 5 2002-03-27 Q9H0M4 ZCPW1_HUMAN ZCWPW1 Zinc finger CW-type PWWP domain protein 1 648 72 7 Nucleus; Chromosome 0 0 2 1 5 2004-08-31 Q9H1J1 REN3A_HUMAN UPF3A Regulator of nonsense transcripts 3A 476 54.7 13 Nucleus; Cytoplasm 0 0 2 1 5 2005-03-01 Q9H422 HIPK3_HUMAN HIPK3 Homeodomain-interacting protein kinase 3 1215 133.7 11 2.7.11.1 Cytoplasm; Nucleus 0 0 2 1 5 2005-03-15 Q9H488 OFUT1_HUMAN POFUT1 GDP-fucose protein O-fucosyltransferase 1 388 44 20 2.4.1.221 Endoplasmic reticulum 0 1 Dowling-Degos disease 2 2 1 5 2002-09-19 Q9H4P4 RNF41_HUMAN RNF41 E3 ubiquitin-protein ligase NRDP1 317 35.9 12 2.3.2.27 0 0 2 1 5 2006-02-21 Q9H5V9 STEEP_HUMAN STEEP1 STING ER exit protein 222 25.6 X Cytoplasm; Endoplasmic reticulum membrane; Nucleus 0 1 Intellectual developmental disorder, X-linked 107 2 1 5 2007-05-15 Q9H633 RPP21_HUMAN RPP21 Ribonuclease P protein subunit p21 154 17.6 6 Nucleus 0 0 2 1 5 2004-07-05 Q9HBG4 VPP4_HUMAN ATP6V0A4 V-type proton ATPase 116 kDa subunit a 4 840 96.4 7 Apical cell membrane; Basolateral cell membrane 8 1 Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2 1 5 2003-11-14 Q9NPI6 DCP1A_HUMAN DCP1A mRNA-decapping enzyme 1A 582 63.3 3 3.6.1.62 Cytoplasm; Nucleus 0 0 2 1 5 2005-03-01 Q9NS61 KCIP2_HUMAN KCNIP2 A-type potassium channel modulatory protein KCNIP2 270 30.9 10 Cell membrane 0 0 2 1 5 2005-08-16 Q9NTJ3 SMC4_HUMAN SMC4 Structural maintenance of chromosomes protein 4 1288 147.2 3 Nucleus; Cytoplasm; Chromosome 0 0 2 1 5 2003-04-23 Q9NX07 TSAP1_HUMAN TRNAU1AP tRNA selenocysteine 1-associated protein 1 287 32.5 1 Nucleus; Cytoplasm 0 0 2 1 5 2007-10-02 Q9NYF8 BCLF1_HUMAN BCLAF1 Bcl-2-associated transcription factor 1 920 106.1 6 Cytoplasm; Nucleus; Nucleus speckle 0 0 2 1 5 2004-05-24 Q9NZH6 IL37_HUMAN IL37 Interleukin-37 218 24.1 2 Cytoplasm; Nucleus; Secreted 0 1 Inflammatory bowel disease 31, autosomal recessive 2 1 5 2002-11-08 Q9NZK5 ADA2_HUMAN ADA2 Adenosine deaminase 2 511 58.9 22 3.5.4.4 Secreted 0 2 Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome; Sneddon syndrome 2 1 5 2002-04-16 Q9P0L0 VAPA_HUMAN VAPA Vesicle-associated membrane protein-associated protein A 249 27.9 18 Endoplasmic reticulum membrane; Cell membrane; Cell junction; Nucleus membrane 1 0 2 1 5 2002-11-01 Q9P0M2 AKA7G_HUMAN AKAP7 A-kinase anchor protein 7 isoform gamma 348 39.5 6 Nucleus; Cytoplasm 0 0 2 1 5 2002-11-15 Q9P1W9 PIM2_HUMAN PIM2 Serine/threonine-protein kinase pim-2 311 34.2 X 2.7.11.1 0 0 2 1 5 2002-03-27 Q9P2E3 ZNFX1_HUMAN ZNFX1 NFX1-type zinc finger-containing protein 1 1918 220.2 20 Mitochondrion outer membrane; Cytoplasm 0 1 Immunodeficiency 91 and hyperinflammation 2 1 5 2002-10-10 Q9UBV7 B4GT7_HUMAN B4GALT7 Beta-1,4-galactosyltransferase 7 327 37.4 5 2.4.1.- Golgi apparatus 1 1 Ehlers-Danlos syndrome, spondylodysplastic type, 1 2 1 5 2001-02-21 Q9UBW5 BIN2_HUMAN BIN2 Bridging integrator 2 565 61.9 12 Cytoplasm; Cell projection 0 0 2 1 5 2006-10-31 Q9UDY2 ZO2_HUMAN TJP2 Tight junction protein 2 1190 134 9 Cell junction; Cell membrane; Nucleus 0 2 Hypercholanemia, familial, 1; Cholestasis, progressive familial intrahepatic, 4 2 1 5 2001-04-27 Q9UHE8 STEA1_HUMAN STEAP1 STEAP1 protein 339 39.9 7 Endosome membrane; Cell membrane 6 0 2 1 5 2000-12-01 Q9UHR4 BI2L1_HUMAN BAIAP2L1 BAR/IMD domain-containing adapter protein 2-like 1 511 56.9 7 Cytoplasm 0 0 2 1 5 2006-07-25 Q9UJ70 NAGK_HUMAN NAGK N-acetyl-D-glucosamine kinase 344 37.4 2 2.7.1.59 0 0 2 1 5 2002-11-01 Q9UL15 BAG5_HUMAN BAG5 BAG family molecular chaperone regulator 5 447 51.2 14 0 1 Cardiomyopathy, dilated, 2F 2 1 5 2001-01-11 Q9UMS0 NFU1_HUMAN NFU1 NFU1 iron-sulfur cluster scaffold homolog, mitochondrial 254 28.5 2 Mitochondrion; Cytoplasm 0 2 Multiple mitochondrial dysfunctions syndrome 1; Spastic paraplegia 93, autosomal recessive 2 1 5 2002-08-13 Q9UN19 DAPP1_HUMAN DAPP1 Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide 280 32.2 4 Cytoplasm; Membrane 0 0 2 1 5 2004-07-05 Q9UNW9 NOVA2_HUMAN NOVA2 RNA-binding protein Nova-2 492 49 19 Nucleus 0 1 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 2 1 5 2003-08-04 Q9UPQ3 AGAP1_HUMAN AGAP1 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 857 94.5 2 Cytoplasm 0 0 2 1 5 2003-01-27 Q9UPX8 SHAN2_HUMAN SHANK2 SH3 and multiple ankyrin repeat domains protein 2 1849 201.3 11 Apical cell membrane; Cytoplasm; Synapse; Postsynaptic density; Cell projection 0 1 Autism 17 2 1 5 2002-07-26 Q9UQ16 DYN3_HUMAN DNM3 Dynamin-3 869 97.7 1 3.6.5.5 Cytoplasm 0 0 2 1 5 2003-01-17 Q9Y255 PRLD1_HUMAN PRELID1 PRELI domain-containing protein 1, mitochondrial 219 25.2 5 Mitochondrion; Mitochondrion intermembrane space 0 0 2 1 5 2003-04-11 Q9Y271 CLTR1_HUMAN CYSLTR1 Cysteinyl leukotriene receptor 1 337 38.5 X Cell membrane 7 0 2 1 5 2002-02-11 Q9Y2Z4 SYYM_HUMAN YARS2 Tyrosine--tRNA ligase, mitochondrial 477 53.2 12 6.1.1.1 Mitochondrion matrix 0 1 Myopathy with lactic acidosis and sideroblastic anemia 2 2 1 5 2004-07-19 Q9Y314 NOSIP_HUMAN NOSIP Nitric oxide synthase-interacting protein 301 33.2 19 Cytoplasm; Nucleus 0 0 2 1 5 2007-03-20 Q9Y3A3 PHOCN_HUMAN MOB4 MOB-like protein phocein 225 26 2 Cytoplasm; Membrane; Golgi apparatus 0 0 2 1 5 2004-12-21 Q9Y512 SAM50_HUMAN SAMM50 Sorting and assembly machinery component 50 homolog 469 52 22 Mitochondrion outer membrane; Cytoplasm; Mitochondrion 0 0 2 1 5 2001-01-24 Q9Y547 IFT25_HUMAN IFT25 Intraflagellar transport protein 25 homolog 144 16.3 1 Cell projection 0 0 2 1 5 2005-06-07 Q9Y5T5 UBP16_HUMAN USP16 Ubiquitin carboxyl-terminal hydrolase 16 823 93.6 21 3.4.19.12 Nucleus; Cytoplasm 0 0 2 1 5 2000-05-30 Q9Y5Y7 LYVE1_HUMAN LYVE1 Lymphatic vessel endothelial hyaluronic acid receptor 1 322 35.2 11 Cell membrane 1 0 2 1 5 2006-10-03 Q9Y6A9 SPCS1_HUMAN SPCS1 Signal peptidase complex subunit 1 169 18.3 3 Endoplasmic reticulum membrane 2 0 2 1 5 2002-01-31 Q9Y6H1 CHCH2_HUMAN CHCHD2 Coiled-coil-helix-coiled-coil-helix domain-containing protein 2 151 15.5 7 Nucleus; Mitochondrion; Mitochondrion intermembrane space 0 1 Parkinson disease 22 2 1 5 2005-04-12 Q9Y6I9 TX264_HUMAN TEX264 Testis-expressed protein 264 313 34.2 3 Endoplasmic reticulum membrane; Cytoplasmic vesicle; Cytoplasm; Nucleus; Chromosome 1 0 2 1 5 2002-07-26 Q9Y6K0 CEPT1_HUMAN CEPT1 Choline/ethanolaminephosphotransferase 1 416 46.6 1 2.7.8.1, 2.7.8.2 Endoplasmic reticulum membrane; Nucleus membrane 10 0 2 1 5 2007-05-29 A8K7I4 CLCA1_HUMAN CLCA1 Calcium-activated chloride channel regulator 1 914 100.2 1 3.4.-.- Secreted; Cell membrane 0 0 2 1 5 2008-05-20 A8K830 OCAT2_HUMAN POU2AF3 POU class 2 homeobox associating factor 3 251 27.4 11 Cytoplasm; Nucleus 0 0 2 1 5 2008-05-20 A8MTA8 CMI2B_HUMAN CIMIP2B Ciliary microtubule inner protein 2B 275 30.6 9 Cytoplasm 0 0 2 1 5 2008-07-22 O00445 SYT5_HUMAN SYT5 Synaptotagmin-5 386 42.9 19 Cytoplasmic vesicle; Recycling endosome membrane 1 0 2 1 5 1997-11-01 O14717 TRDMT_HUMAN TRDMT1 tRNA (cytosine(38)-C(5))-methyltransferase 391 44.6 10 2.1.1.204 Cytoplasm 0 0 2 1 5 2001-09-26 O14810 CPLX1_HUMAN CPLX1 Complexin-1 134 15 4 Cytoplasm; Perikaryon; Presynapse 0 1 Developmental and epileptic encephalopathy 63 2 1 5 1999-07-15 O14974 MYPT1_HUMAN PPP1R12A Protein phosphatase 1 regulatory subunit 12A 1030 115.3 12 Cytoplasm 0 1 Genitourinary and/or brain malformation syndrome 2 1 5 2004-01-16 O15033 AREL1_HUMAN AREL1 Apoptosis-resistant E3 ubiquitin protein ligase 1 823 94.2 14 2.3.2.26 0 0 2 1 5 2005-03-29 O15492 RGS16_HUMAN RGS16 Regulator of G protein signaling 16 202 22.7 1 Membrane 0 0 2 1 5 1998-12-15 O15537 XLRS1_HUMAN RS1 Retinoschisin 224 25.6 X Secreted; Cell membrane 0 1 Retinoschisis juvenile X-linked 1 2 1 5 2000-05-30 O43151 TET3_HUMAN TET3 Methylcytosine dioxygenase TET3 1795 193.7 2 1.14.11.80 Nucleus; Cytoplasm; Chromosome 0 1 Beck-Fahrner syndrome 2 1 5 2001-02-21 O43240 KLK10_HUMAN KLK10 Kallikrein-10 276 30.2 19 3.4.21.- Secreted 0 0 2 1 5 1998-12-15 O43298 ZBT43_HUMAN ZBTB43 Zinc finger and BTB domain-containing protein 43 467 52.6 9 Nucleus 0 0 2 1 5 2002-09-19 O43567 RNF13_HUMAN RNF13 E3 ubiquitin-protein ligase RNF13 381 42.8 3 2.3.2.27 Endoplasmic reticulum membrane; Late endosome membrane; Lysosome membrane; Nucleus inner membrane 1 1 Developmental and epileptic encephalopathy 73 2 1 5 2002-06-06 O43704 ST1B1_HUMAN SULT1B1 Sulfotransferase 1B1 296 34.9 4 2.8.2.1 Cytoplasm 0 0 2 1 5 2005-01-04 O43752 STX6_HUMAN STX6 Syntaxin-6 255 29.2 1 Golgi apparatus membrane; Golgi apparatus; Recycling endosome membrane 1 0 2 1 5 2000-05-30 O60494 CUBN_HUMAN CUBN Cubilin 3623 398.7 10 Apical cell membrane; Cell membrane; Membrane; Endosome; Lysosome membrane 0 2 Imerslund-Grasbeck syndrome 1; Proteinuria, chronic benign 2 1 5 2006-02-07 O60524 NEMF_HUMAN NEMF Ribosome quality control complex subunit NEMF 1076 123 14 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder with speech delay and axonal peripheral neuropathy 2 1 5 2003-09-26 O75592 MYCB2_HUMAN MYCBP2 E3 ubiquitin-protein ligase MYCBP2 4678 513.6 13 2.3.2.33 Nucleus; Cell projection; Cytoplasm 0 0 2 1 5 2005-06-21 O75794 CD123_HUMAN CDC123 Translation initiation factor eIF2 assembly protein 336 39.1 10 Cytoplasm 0 0 2 1 5 2006-03-21 O75865 TPC6A_HUMAN TRAPPC6A Trafficking protein particle complex subunit 6A 159 17.6 19 Golgi apparatus; Endoplasmic reticulum 0 0 2 1 5 2006-06-27 O94822 LTN1_HUMAN LTN1 E3 ubiquitin-protein ligase listerin 1766 200.6 21 2.3.2.27 Cytoplasm 0 0 2 1 5 2000-05-30 O95267 GRP1_HUMAN RASGRP1 RAS guanyl-releasing protein 1 797 90.4 15 Cytoplasm; Cell membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane 0 2 Systemic lupus erythematosus; Immunodeficiency 64 with lymphoproliferation 2 1 5 2008-02-05 O95399 UTS2_HUMAN UTS2 Urotensin-2 124 14.3 1 Secreted 0 0 2 1 5 2000-12-01 O95476 CNEP1_HUMAN CTDNEP1 CTD nuclear envelope phosphatase 1 244 28.4 17 3.1.3.16 Endoplasmic reticulum membrane; Nucleus membrane 1 0 2 1 5 2007-08-21 O95704 APBB3_HUMAN APBB3 Amyloid-beta A4 precursor protein-binding family B member 3 486 52.6 5 Cytoplasm; Nucleus 0 0 2 1 5 2001-01-11 O96007 MOC2B_HUMAN MOCS2 Molybdopterin synthase catalytic subunit 188 20.9 5 2.8.1.12 Cytoplasm; Nucleus 0 1 Molybdenum cofactor deficiency, type B1 2 1 5 2002-02-11 P02042 HBD_HUMAN HBD Hemoglobin subunit delta 147 16.1 11 0 0 2 1 5 1986-07-21 P02795 MT2_HUMAN MT2A Metallothionein-2 61 6 16 0 0 2 1 5 1986-07-21 P03973 SLPI_HUMAN SLPI Antileukoproteinase 132 14.3 20 Secreted 0 0 2 1 5 1986-10-23 P04053 TDT_HUMAN DNTT DNA nucleotidylexotransferase 509 58.5 10 2.7.7.31 Nucleus 0 0 2 1 5 1986-11-01 P04424 ARLY_HUMAN ASL Argininosuccinate lyase 464 51.7 7 4.3.2.1 0 1 Argininosuccinic aciduria 2 1 5 1987-08-13 P05090 APOD_HUMAN APOD Apolipoprotein D 189 21.3 3 Secreted 0 0 2 1 5 1987-08-13 P05129 KPCG_HUMAN PRKCG Protein kinase C gamma type 697 78.4 19 2.7.11.13 Cytoplasm; Cell membrane; Synapse; Cell projection 0 1 Spinocerebellar ataxia 14 2 1 5 1987-08-13 P06727 APOA4_HUMAN APOA4 Apolipoprotein A-IV 396 45.4 11 Secreted 0 1 Tubulointerstitial kidney disease, autosomal dominant 6 2 1 5 1988-01-01 P06870 KLK1_HUMAN KLK1 Kallikrein-1 262 28.9 19 3.4.21.35 0 0 2 1 5 1988-01-01 P07108 ACBP_HUMAN DBI Acyl-CoA-binding protein 87 10 2 Endoplasmic reticulum; Golgi apparatus 0 0 2 1 5 1988-04-01 P07327 ADH1A_HUMAN ADH1A Alcohol dehydrogenase 1A 375 39.9 4 1.1.1.1 Cytoplasm 0 0 2 1 5 1988-04-01 P08236 BGLR_HUMAN GUSB Beta-glucuronidase 651 74.7 7 3.2.1.31 Lysosome 0 1 Mucopolysaccharidosis 7 2 1 5 1988-08-01 P09417 DHPR_HUMAN QDPR Dihydropteridine reductase 244 25.8 4 1.5.1.34 0 1 Hyperphenylalaninemia, BH4-deficient, C 2 1 5 1989-07-01 P10144 GRAB_HUMAN GZMB Granzyme B 247 27.7 14 3.4.21.79 Secreted; Cytolytic granule 0 0 2 1 5 1989-07-01 P11216 PYGB_HUMAN PYGB Glycogen phosphorylase, brain form 843 96.7 20 2.4.1.1 0 0 2 1 5 1989-07-01 P12429 ANXA3_HUMAN ANXA3 Annexin A3 323 36.4 4 0 0 2 1 5 1989-10-01 P13349 MYF5_HUMAN MYF5 Myogenic factor 5 255 28.3 12 Nucleus 0 1 Ophthalmoplegia, external, with rib and vertebral anomalies 2 1 5 1990-01-01 P14314 GLU2B_HUMAN PRKCSH Glucosidase 2 subunit beta 528 59.4 19 Endoplasmic reticulum 0 1 Polycystic liver disease 1 with or without kidney cysts 2 1 5 1990-01-01 P15538 C11B1_HUMAN CYP11B1 Cytochrome P450 11B1, mitochondrial 503 57.6 8 Mitochondrion inner membrane 0 2 Adrenal hyperplasia 4; Hyperaldosteronism, familial, 1 2 1 5 1990-04-01 P20151 KLK2_HUMAN KLK2 Kallikrein-2 261 28.7 19 3.4.21.35 0 0 2 1 5 1991-02-01 P22061 PIMT_HUMAN PCMT1 Protein-L-isoaspartate(D-aspartate) O-methyltransferase 227 24.6 6 2.1.1.77 Cytoplasm 0 0 2 1 5 1991-08-01 P22891 PROZ_HUMAN PROZ Vitamin K-dependent protein Z 400 44.7 13 Secreted 0 0 2 1 5 1991-08-01 P23560 BDNF_HUMAN BDNF Neurotrophic factor BDNF precursor form 247 27.8 11 Secreted 0 0 2 1 5 1991-11-01 P23769 GATA2_HUMAN GATA2 Endothelial transcription factor GATA-2 480 50.5 3 Nucleus 0 3 Immunodeficiency 21; Lymphedema, primary, with myelodysplasia; Myelodysplastic syndrome 2 1 5 1991-11-01 P24043 LAMA2_HUMAN LAMA2 Laminin subunit alpha-2 3122 343.9 6 Secreted 0 2 Merosin-deficient congenital muscular dystrophy 1A; Muscular dystrophy, limb-girdle, autosomal recessive 23 2 1 5 1992-03-01 P24462 CP3A7_HUMAN CYP3A7 Cytochrome P450 3A7 503 57.5 7 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 2 1 5 1992-03-01 P24592 IBP6_HUMAN IGFBP6 Insulin-like growth factor-binding protein 6 240 25.3 12 Secreted 0 0 2 1 5 1992-03-01 P28325 CYTD_HUMAN CST5 Cystatin-D 142 16.1 20 Secreted 0 0 2 1 5 1992-12-01 P29376 LTK_HUMAN LTK Leukocyte tyrosine kinase receptor 864 91.7 15 2.7.10.1 Cell membrane 1 0 2 1 5 1992-12-01 P30304 MPIP1_HUMAN CDC25A M-phase inducer phosphatase 1 524 59.1 3 3.1.3.48 0 0 2 1 5 1993-04-01 P35916 VGFR3_HUMAN FLT4 Vascular endothelial growth factor receptor 3 1363 152.8 5 2.7.10.1 Cell membrane; Cytoplasm; Nucleus 1 3 Lymphatic malformation 1; Hemangioma, capillary infantile; Congenital heart defects, multiple types, 7 2 1 5 1994-06-01 P40424 PBX1_HUMAN PBX1 Pre-B-cell leukemia transcription factor 1 430 46.6 1 Nucleus 0 1 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 2 1 5 1995-02-01 P43119 PI2R_HUMAN PTGIR Prostacyclin receptor 386 41 19 Cell membrane 7 0 2 1 5 1995-11-01 P43355 MAGA1_HUMAN MAGEA1 Melanoma-associated antigen 1 309 34.3 X Cytoplasm; Nucleus 0 0 2 1 5 1995-11-01 P43657 LPAR6_HUMAN LPAR6 Lysophosphatidic acid receptor 6 344 39.4 13 Cell membrane 7 2 Woolly hair autosomal recessive 1 with or without hypotrichosis; Hypotrichosis 8 2 1 5 1995-11-01 P47224 MSS4_HUMAN RABIF Guanine nucleotide exchange factor MSS4 123 13.8 1 0 0 2 1 5 1996-02-01 P48443 RXRG_HUMAN RXRG Retinoic acid receptor RXR-gamma 463 50.9 1 Nucleus; Cytoplasm 0 0 2 1 5 1996-02-01 P49685 GPR15_HUMAN GPR15 G protein-coupled receptor 15 360 40.8 3 Cell membrane 7 0 2 1 5 1996-02-01 P49815 TSC2_HUMAN TSC2 Tuberin 1807 200.6 16 Lysosome membrane; Cytoplasm 0 3 Tuberous sclerosis 2; Lymphangioleiomyomatosis; Focal cortical dysplasia 2 2 1 5 1996-10-01 P50876 R144A_HUMAN RNF144A E3 ubiquitin-protein ligase RNF144A 292 32.9 2 2.3.2.31 Cell membrane; Cytoplasmic vesicle membrane; Endosome membrane; Endoplasmic reticulum membrane 1 0 2 1 5 1996-10-01 P51157 RAB28_HUMAN RAB28 Ras-related protein Rab-28 221 24.8 4 3.6.5.2 Cell membrane; Cytoplasm; Nucleus 0 1 Cone-rod dystrophy 18 2 1 5 1996-10-01 P53370 NUDT6_HUMAN NUDT6 Nudix hydrolase 6 316 35.7 4 Mitochondrion 0 0 2 1 5 1996-10-01 P54317 LIPR2_HUMAN PNLIPRP2 Pancreatic lipase-related protein 2 469 52 10 Secreted; Zymogen granule membrane; Cell projection 0 0 2 1 5 1996-10-01 P61289 PSME3_HUMAN PSME3 Proteasome activator complex subunit 3 254 29.5 17 Nucleus; Cytoplasm 0 0 2 1 5 2004-05-10 P78549 NTH_HUMAN NTHL1 Endonuclease III-like protein 1 304 33.6 16 3.2.2.-, 4.2.99.18 Nucleus; Mitochondrion 0 1 Familial adenomatous polyposis 3 2 1 5 2003-02-28 P98160 PGBM_HUMAN HSPG2 Basement membrane-specific heparan sulfate proteoglycan core protein 4391 468.8 1 Secreted 0 2 Schwartz-Jampel syndrome; Dyssegmental dysplasia Silverman-Handmaker type 2 1 5 1996-10-01 Q03591 FHR1_HUMAN CFHR1 Complement factor H-related protein 1 330 37.7 1 Secreted 0 1 Hemolytic uremic syndrome, atypical, 1 2 1 5 1994-06-01 Q05639 EF1A2_HUMAN EEF1A2 Elongation factor 1-alpha 2 463 50.5 20 3.6.5.- Endoplasmic reticulum membrane 0 2 Developmental and epileptic encephalopathy 33; Intellectual developmental disorder, autosomal dominant 38 2 1 5 1994-06-01 Q08830 FGL1_HUMAN FGL1 Fibrinogen-like protein 1 312 36.4 8 Secreted 0 0 2 1 5 2002-01-23 Q09013 DMPK_HUMAN DMPK Myotonin-protein kinase 629 69.4 19 2.7.11.1 Endoplasmic reticulum membrane; Nucleus outer membrane; Mitochondrion outer membrane; Sarcoplasmic reticulum membrane; Cell membrane; Cytoplasm 1 1 Dystrophia myotonica 1 2 1 5 1996-10-01 Q12770 SCAP_HUMAN SCAP Sterol regulatory element-binding protein cleavage-activating protein 1279 139.7 3 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle 8 0 2 1 5 2001-11-16 Q13107 UBP4_HUMAN USP4 Ubiquitin carboxyl-terminal hydrolase 4 963 108.6 3 3.4.19.12 Cytoplasm; Nucleus 0 0 2 1 5 1997-11-01 Q13217 DNJC3_HUMAN DNAJC3 DnaJ homolog subfamily C member 3 504 57.6 13 Endoplasmic reticulum 0 1 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 2 1 5 2005-08-16 Q13530 SERC3_HUMAN SERINC3 Serine incorporator 3 473 52.6 20 Cell membrane; Golgi apparatus membrane 8 0 2 1 5 2002-11-25 Q13542 4EBP2_HUMAN EIF4EBP2 Eukaryotic translation initiation factor 4E-binding protein 2 120 12.9 10 Cytoplasm; Nucleus 0 0 2 1 5 2003-09-19 Q13796 SHRM2_HUMAN SHROOM2 Protein Shroom2 1616 176.4 X Apical cell membrane; Cell junction; Cytoplasm 0 0 2 1 5 1997-11-01 Q14004 CDK13_HUMAN CDK13 Cyclin-dependent kinase 13 1512 164.9 7 2.7.11.22, 2.7.11.23 Nucleus speckle 0 1 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 2 1 5 2000-12-01 Q14320 FA50A_HUMAN FAM50A Protein FAM50A 339 40.2 X Nucleus 0 1 Intellectual developmental disorder, X-linked, syndromic, Armfield type 2 1 5 1997-11-01 Q14511 CASL_HUMAN NEDD9 Enhancer of filamentation 1 834 92.9 6 Cytoplasm; Nucleus; Golgi apparatus; Cell projection; Cell junction; Basolateral cell membrane 0 0 2 1 5 2000-05-30 Q14657 LAGE3_HUMAN LAGE3 EKC/KEOPS complex subunit LAGE3 143 14.8 X Cytoplasm; Nucleus 0 1 Galloway-Mowat syndrome 2, X-linked 2 1 5 1997-11-01 Q14865 ARI5B_HUMAN ARID5B AT-rich interactive domain-containing protein 5B 1188 132.4 10 Nucleus 0 1 Leukemia, acute lymphoblastic 2 1 5 2004-02-02 Q14999 CUL7_HUMAN CUL7 Cullin-7 1698 191.2 6 Cytoplasm; Golgi apparatus 0 1 3M syndrome 1 2 1 5 1997-11-01 Q15672 TWST1_HUMAN TWIST1 Twist-related protein 1 202 21 7 Nucleus 0 4 Saethre-Chotzen syndrome; Robinow-Sorauf syndrome; Craniosynostosis 1; Sweeney-Cox syndrome 2 1 5 1997-11-01 Q15762 CD226_HUMAN CD226 CD226 antigen 336 38.6 18 Cell membrane 1 0 2 1 5 2004-05-24 Q15825 ACHA6_HUMAN CHRNA6 Neuronal acetylcholine receptor subunit alpha-6 494 56.9 8 Synaptic cell membrane 4 0 2 1 5 1997-11-01 Q16204 CCDC6_HUMAN CCDC6 Coiled-coil domain-containing protein 6 474 53.3 10 Cytoplasm 0 0 2 1 5 1997-11-01 Q16647 PTGIS_HUMAN PTGIS Prostacyclin synthase 500 57.1 20 5.3.99.4 Endoplasmic reticulum membrane 1 1 Essential hypertension 2 1 5 1997-11-01 Q16656 NRF1_HUMAN NRF1 Nuclear respiratory factor 1 503 53.5 7 Nucleus 0 0 2 1 5 2000-12-01 Q16678 CP1B1_HUMAN CYP1B1 Cytochrome P450 1B1 543 60.8 2 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane; Mitochondrion 0 3 Anterior segment dysgenesis 6; Glaucoma 3, primary congenital, A; Glaucoma 1, open angle, A 2 1 5 1998-12-15 Q16772 GSTA3_HUMAN GSTA3 Glutathione S-transferase A3 222 25.3 6 2.5.1.18 Cytoplasm 0 0 2 1 5 1999-07-15 Q16827 PTPRO_HUMAN PTPRO Receptor-type tyrosine-protein phosphatase O 1216 138.3 12 3.1.3.48 Membrane 1 1 Nephrotic syndrome 6 2 1 5 2003-07-19 Q16828 DUS6_HUMAN DUSP6 Dual specificity protein phosphatase 6 381 42.3 12 3.1.3.16, 3.1.3.48 Cytoplasm 0 1 Hypogonadotropic hypogonadism 19 with or without anosmia 2 1 5 1997-11-01 Q4G0W2 DUS28_HUMAN DUSP28 Dual specificity phosphatase 28 176 18.3 2 3.1.3.16, 3.1.3.48 0 0 2 1 5 2007-09-11 Q4J6C6 PPCEL_HUMAN PREPL Prolyl endopeptidase-like 727 83.9 2 3.4.21.- Cytoplasm; Golgi apparatus; Nucleus 0 2 Hypotonia-cystinuria syndrome; Myasthenic syndrome, congenital, 22 2 1 5 2008-01-15 Q53FT3 HIKES_HUMAN HIKESHI Protein Hikeshi 197 21.6 11 Cytoplasm; Nucleus 0 1 Leukodystrophy, hypomyelinating, 13 2 1 5 2006-07-11 Q53TN4 CYBR1_HUMAN CYBRD1 Plasma membrane ascorbate-dependent reductase CYBRD1 286 31.6 2 7.2.1.3 Cell membrane; Apical cell membrane 6 0 2 1 5 2008-01-15 Q5JU85 IQEC2_HUMAN IQSEC2 IQ motif and SEC7 domain-containing protein 2 1488 162.8 X Cell projection; Postsynaptic density 0 2 Intellectual developmental disorder, X-linked 1; Neurodevelopmental disorder, X-linked, with poor or absent speech and behavioral abnormalities 2 1 5 2006-07-11 Q5R3K3 CAHM6_HUMAN CALHM6 Calcium homeostasis modulator protein 6 315 34.5 6 Cell membrane 4 0 2 1 5 2007-04-03 Q5T3F8 TM63B_HUMAN TMEM63B Mechanosensitive cation channel TMEM63B 832 95 6 Cell membrane; Endoplasmic reticulum membrane; Lysosome membrane; Early endosome membrane 11 1 Developmental and epileptic encephalopathy 118 2 1 5 2007-03-20 Q5VZE5 NAA35_HUMAN NAA35 N-alpha-acetyltransferase 35, NatC auxiliary subunit 725 83.6 9 Cytoplasm 0 0 2 1 5 2007-10-23 Q5VZF2 MBNL2_HUMAN MBNL2 Muscleblind-like protein 2 373 40.5 13 Nucleus; Cytoplasm 0 0 2 1 5 2007-02-06 Q658P3 STEA3_HUMAN STEAP3 Metalloreductase STEAP3 488 54.6 2 1.16.1.- Endosome membrane 6 1 Anemia, hypochromic microcytic, with iron overload 2 2 1 5 2007-05-01 Q68CP9 ARID2_HUMAN ARID2 AT-rich interactive domain-containing protein 2 1835 197.4 12 Nucleus 0 1 Coffin-Siris syndrome 6 2 1 5 2005-08-30 Q68D10 SPT2_HUMAN SPTY2D1 Protein SPT2 homolog 685 75.6 11 Nucleus 0 0 2 1 5 2008-01-15 Q68DV7 RNF43_HUMAN RNF43 E3 ubiquitin-protein ligase RNF43 783 85.7 17 2.3.2.27 Cell membrane; Endoplasmic reticulum membrane; Nucleus envelope 1 1 Sessile serrated polyposis cancer syndrome 2 1 5 2007-02-20 Q6DD88 ATLA3_HUMAN ATL3 Atlastin-3 541 60.5 11 3.6.5.- Endoplasmic reticulum membrane 2 1 Neuropathy, hereditary sensory, 1F 2 1 5 2007-05-15 Q6DKI7 PVRIG_HUMAN PVRIG Transmembrane protein PVRIG 326 34.3 7 Cell membrane 3 0 2 1 5 2008-05-20 Q6IBS0 TWF2_HUMAN TWF2 Twinfilin-2 349 39.5 3 Cytoplasm; Cell projection 0 0 2 1 5 2006-05-02 Q6IMI6 ST1C3_HUMAN SULT1C3 Sulfotransferase 1C3 304 35.9 2 2.8.2.1, 2.8.2.2 Cytoplasm 0 0 2 1 5 2006-09-19 Q6NSI4 RADX_HUMAN RADX RPA-related protein RADX 855 97.6 X Chromosome 0 0 2 1 5 2006-10-31 Q6P0Q8 MAST2_HUMAN MAST2 Microtubule-associated serine/threonine-protein kinase 2 1798 196.4 1 2.7.11.1 Cytoplasm; Cell membrane 0 0 2 1 5 2005-03-29 Q6PIW4 FIGL1_HUMAN FIGNL1 Fidgetin-like protein 1 674 74.1 7 3.6.4.- Chromosome; Nucleus; Cytoplasm 0 0 2 1 5 2007-09-11 Q6UWV6 ENPP7_HUMAN ENPP7 Ectonucleotide pyrophosphatase/phosphodiesterase family member 7 458 51.5 17 3.1.4.12 Cell membrane 1 0 2 1 5 2005-03-15 Q6UXL0 I20RB_HUMAN IL20RB Interleukin-20 receptor subunit beta 311 35.1 3 Membrane 1 0 2 1 5 2004-08-31 Q6ZN04 MEX3B_HUMAN MEX3B RNA-binding protein MEX3B 569 58.8 15 Nucleus; Cytoplasm; Cytoplasmic granule 0 0 2 1 5 2007-03-06 Q6ZVN8 RGMC_HUMAN HJV Hemojuvelin 426 45.1 1 Cell membrane 0 1 Hemochromatosis 2A 2 1 5 2004-08-16 Q6ZW76 ANKS3_HUMAN ANKS3 Ankyrin repeat and SAM domain-containing protein 3 656 72 16 Cell projection; Cytoplasm 0 0 2 1 5 2006-04-04 Q7Z3T8 ZFY16_HUMAN ZFYVE16 Zinc finger FYVE domain-containing protein 16 1539 168.9 5 Cytoplasm; Early endosome membrane 0 0 2 1 5 2004-07-19 Q7Z4H4 ADM2_HUMAN ADM2 Protein ADM2 148 15.9 22 Secreted 0 0 2 1 5 2004-05-10 Q7Z6L1 TCPR1_HUMAN TECPR1 Tectonin beta-propeller repeat-containing protein 1 1165 129.7 7 Cytoplasmic vesicle; Lysosome membrane 0 0 2 1 5 2008-05-20 Q86T03 PP4P1_HUMAN PIP4P1 Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase 277 29.5 14 3.1.3.78 Late endosome membrane; Lysosome membrane; Cytoplasmic vesicle; Cell membrane 2 0 2 1 5 2003-07-19 Q86X95 CIR1_HUMAN CIRSR Corepressor of RBPJ and splicing regulator 450 52.3 2 Nucleus speckle; Cytoplasm 0 0 2 1 5 2006-09-05 Q86XR8 CEP57_HUMAN CEP57 Centrosomal protein of 57 kDa 500 57.1 11 Nucleus; Cytoplasm 0 1 Mosaic variegated aneuploidy syndrome 2 2 1 5 2004-12-21 Q86Y26 NUTM1_HUMAN NUTM1 NUT family member 1 1132 120.3 15 Cytoplasm; Nucleus 0 0 2 1 5 2007-11-13 Q86Y78 LYPD6_HUMAN LYPD6 Ly6/PLAUR domain-containing protein 6 171 19.1 2 Secreted; Cytoplasm; Cell membrane; Synapse; Membrane raft; Cell projection; Perikaryon 0 0 2 1 5 2004-11-09 Q8IU54 IFNL1_HUMAN IFNL1 Interferon lambda-1 200 21.9 19 Secreted 0 0 2 1 5 2004-11-23 Q8IY34 S15A3_HUMAN SLC15A3 Solute carrier family 15 member 3 581 63.6 11 Lysosome membrane; Endosome membrane 12 0 2 1 5 2007-07-24 Q8IZ69 TRM2A_HUMAN TRMT2A tRNA (uracil-5-)-methyltransferase homolog A 625 68.7 22 2.1.1.35 Cytoplasm 0 0 2 1 5 2004-08-16 Q8N1W1 ARG28_HUMAN ARHGEF28 Rho guanine nucleotide exchange factor 28 1705 191.9 5 Cytoplasm; Cell membrane 0 0 2 1 5 2008-03-18 Q8N205 SYNE4_HUMAN SYNE4 Nesprin-4 404 43.5 19 Nucleus outer membrane 1 1 Deafness, autosomal recessive, 76 2 1 5 2007-10-02 Q8N6L1 KTAP2_HUMAN KRTCAP2 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit KCP2 136 14.7 1 Endoplasmic reticulum; Endoplasmic reticulum membrane 3 0 2 1 5 2006-03-07 Q8N8Q3 ENDOV_HUMAN ENDOV Endonuclease V 282 30.8 17 3.1.26.- Cytoplasm; Nucleus 0 0 2 1 5 2008-09-02 Q8N9A8 NEPR1_HUMAN CNEP1R1 Nuclear envelope phosphatase-regulatory subunit 1 125 14.3 16 Nucleus membrane; Cytoplasm 2 0 2 1 5 2007-05-15 Q8NA54 IQUB_HUMAN IQUB IQ motif and ubiquitin-like domain-containing protein 791 92.6 7 Cytoplasm; Cell projection 0 0 2 1 5 2007-02-06 Q8NHJ6 LIRB4_HUMAN LILRB4 Leukocyte immunoglobulin-like receptor subfamily B member 4 448 49.4 19 Cell membrane 1 0 2 1 5 2003-10-03 Q8TB24 RIN3_HUMAN RIN3 Ras and Rab interactor 3 985 107.9 14 Cytoplasm; Cytoplasmic vesicle; Early endosome 0 0 2 1 5 2003-02-01 Q8TD16 BICD2_HUMAN BICD2 Protein bicaudal D homolog 2 824 93.5 9 Golgi apparatus; Cytoplasm; Nucleus envelope; Nucleus 0 2 Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant; Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant 2 1 5 2003-08-15 Q8TE04 PANK1_HUMAN PANK1 Pantothenate kinase 1 598 64.3 10 2.7.1.33 Cytoplasm 0 0 2 1 5 2003-01-17 Q8TE68 ES8L1_HUMAN EPS8L1 Epidermal growth factor receptor kinase substrate 8-like protein 1 723 80.3 19 Cytoplasm 0 0 2 1 5 2006-05-30 Q8WU20 FRS2_HUMAN FRS2 Fibroblast growth factor receptor substrate 2 508 57 12 Endomembrane system 0 0 2 1 5 2005-07-19 Q8WW35 DYT2B_HUMAN DYNLT2B Dynein light chain Tctex-type protein 2B 142 16.1 3 Dynein axonemal particle 0 1 Short-rib thoracic dysplasia 17 with or without polydactyly 2 1 5 2008-02-05 Q8WW43 APH1B_HUMAN APH1B Gamma-secretase subunit APH-1B 257 28.5 15 Membrane 7 0 2 1 5 2003-09-26 Q8WX93 PALLD_HUMAN PALLD Palladin 1383 150.6 4 Cytoplasm; Cell junction; Cell projection 0 1 Pancreatic cancer 1 2 1 5 2007-09-11 Q8WXC3 PYDC1_HUMAN PYDC1 Pyrin domain-containing protein 1 89 10.1 16 Cytoplasm 0 0 2 1 5 2007-03-20 Q8WXX5 DNJC9_HUMAN DNAJC9 DnaJ homolog subfamily C member 9 260 29.9 10 Nucleus; Cytoplasm; Cell membrane 0 0 2 1 5 2004-09-27 Q93062 RBPMS_HUMAN RBPMS RNA-binding protein with multiple splicing 196 21.8 8 Nucleus; Cytoplasm 0 0 2 1 5 2001-02-21 Q93099 HGD_HUMAN HGD Homogentisate 1,2-dioxygenase 445 50 3 1.13.11.5 0 1 Alkaptonuria 2 1 5 1997-11-01 Q969H6 POP5_HUMAN POP5 Ribonuclease P/MRP protein subunit POP5 163 18.8 12 Nucleus 0 0 2 1 5 2006-05-30 Q969S9 RRF2M_HUMAN GFM2 Ribosome-releasing factor 2, mitochondrial 779 86.6 5 3.6.5.- Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 39 2 1 5 2003-02-01 Q96DR7 ARHGQ_HUMAN ARHGEF26 Rho guanine nucleotide exchange factor 26 871 97.3 3 Cell projection 0 0 2 1 5 2008-02-26 Q96FE5 LIGO1_HUMAN LINGO1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 620 69.9 15 Cell membrane 1 1 Intellectual developmental disorder, autosomal recessive 64 2 1 5 2008-04-08 Q96LB8 PGRP4_HUMAN PGLYRP4 Peptidoglycan recognition protein 4 373 40.6 1 Secreted 0 0 2 1 5 2003-11-28 Q96MG7 NSE3_HUMAN NSMCE3 Non-structural maintenance of chromosomes element 3 homolog 304 34.3 15 Cytoplasm; Nucleus; Chromosome 0 1 Lung disease, immunodeficiency, and chromosome breakage syndrome 2 1 5 2004-04-13 Q96PX8 SLIK1_HUMAN SLITRK1 SLIT and NTRK-like protein 1 696 77.7 13 Membrane; Secreted; Synapse 1 1 Trichotillomania 2 1 5 2004-04-13 Q96PY6 NEK1_HUMAN NEK1 Serine/threonine-protein kinase Nek1 1258 142.8 4 2.7.11.1 Nucleus; Cytoplasm 0 3 Short-rib thoracic dysplasia 6 with or without polydactyly; Amyotrophic lateral sclerosis 24; Orofaciodigital syndrome 2 2 1 5 2002-08-13 Q96RG2 PASK_HUMAN PASK PAS domain-containing serine/threonine-protein kinase 1323 142.9 2 2.7.11.1 Cytoplasm; Nucleus 0 0 2 1 5 2004-01-16 Q96RI0 PAR4_HUMAN F2RL3 Proteinase-activated receptor 4 385 41.1 19 Cell membrane 7 0 2 1 5 2002-03-27 Q96RR1 PEO1_HUMAN TWNK Twinkle mtDNA helicase 684 77.2 10 5.6.2.3 Mitochondrion matrix; Mitochondrion inner membrane 0 3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3; Mitochondrial DNA depletion syndrome 7; Perrault syndrome 5 2 1 5 2005-10-25 Q96S55 WRIP1_HUMAN WRNIP1 ATPase WRNIP1 665 72.1 6 3.6.1.- Nucleus; Cytoplasm 0 0 2 1 5 2005-08-16 Q96S82 UBL7_HUMAN UBL7 Ubiquitin-like protein 7 380 40.5 15 0 0 2 1 5 2004-03-29 Q96T51 RUFY1_HUMAN RUFY1 RUN and FYVE domain-containing protein 1 708 79.8 5 Early endosome membrane 0 0 2 1 5 2004-04-13 Q99643 C560_HUMAN SDHC Succinate dehydrogenase cytochrome b560 subunit, mitochondrial 169 18.6 1 Mitochondrion inner membrane 3 2 Pheochromocytoma/paraganglioma syndrome 3; Paraganglioma and gastric stromal sarcoma 2 1 5 1999-07-15 Q99717 SMAD5_HUMAN SMAD5 SMAD family member 5 465 52.3 5 Cytoplasm; Nucleus; Mitochondrion 0 0 2 1 5 2001-05-04 Q9BTC0 DIDO1_HUMAN DIDO1 Death-inducer obliterator 1 2240 243.9 20 Cytoplasm; Nucleus 0 0 2 1 5 2003-04-23 Q9BV20 MTNA_HUMAN MRI1 Methylthioribose-1-phosphate isomerase 369 39.2 19 5.3.1.23 Nucleus; Cytoplasm; Cell projection 0 0 2 1 5 2008-02-05 Q9BW91 NUDT9_HUMAN NUDT9 ADP-ribose pyrophosphatase 350 39.1 4 3.6.1.13 Mitochondrion; Cytoplasm 0 0 2 1 5 2002-05-02 Q9BWD1 THIC_HUMAN ACAT2 Acetyl-CoA acetyltransferase, cytosolic 397 41.4 6 2.3.1.9 Cytoplasm 0 0 2 1 5 2004-09-13 Q9BYV9 BACH2_HUMAN BACH2 Transcription regulator protein BACH2 841 92.5 6 Cytoplasm; Nucleus 0 1 Immunodeficiency 60 and autoimmunity 2 1 5 2001-12-05 Q9BZ11 ADA33_HUMAN ADAM33 Disintegrin and metalloproteinase domain-containing protein 33 813 87.7 20 3.4.24.- Cell membrane 1 1 Asthma 2 1 5 2002-03-27 Q9BZH6 WDR11_HUMAN WDR11 WD repeat-containing protein 11 1224 136.7 10 Cytoplasm; Nucleus; Cytoplasmic vesicle; Golgi apparatus 0 2 Hypogonadotropic hypogonadism 14 with or without anosmia; Intellectual developmental disorder, autosomal recessive 78 2 1 5 2001-11-16 Q9BZM5 ULBP2_HUMAN ULBP2 UL16-binding protein 2 246 27.4 6 Cell membrane; Endoplasmic reticulum; Secreted 0 0 2 1 5 2004-05-24 Q9BZS1 FOXP3_HUMAN FOXP3 Forkhead box protein P3 431 47.2 X Nucleus; Cytoplasm 0 1 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome 2 1 5 2001-06-20 Q9C0E4 GRIP2_HUMAN GRIP2 Glutamate receptor-interacting protein 2 1043 112.6 3 Cytoplasm; Membrane 0 0 2 1 5 2004-03-29 Q9GZN7 ROGDI_HUMAN ROGDI Protein rogdi homolog 287 32.3 16 Nucleus envelope; Presynapse; Cell projection; Perikaryon; Cytoplasmic vesicle; Cytoplasm; Lysosome 0 1 Kohlschuetter-Toenz syndrome 2 1 5 2008-01-15 Q9H228 S1PR5_HUMAN S1PR5 Sphingosine 1-phosphate receptor 5 398 41.8 19 Cell membrane 7 0 2 1 5 2005-04-12 Q9H361 PABP3_HUMAN PABPC3 Polyadenylate-binding protein 3 631 70 13 Cytoplasm 0 0 2 1 5 2003-02-01 Q9H3Z4 DNJC5_HUMAN DNAJC5 DnaJ homolog subfamily C member 5 198 22.1 20 Cytoplasm; Membrane; Cytoplasmic vesicle; Melanosome; Cell membrane 0 1 Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant 2 1 5 2001-08-14 Q9H4W6 COE3_HUMAN EBF3 Transcription factor COE3 596 64.9 10 Nucleus 0 1 Hypotonia, ataxia, and delayed development syndrome 2 1 5 2001-05-04 Q9H5P4 PDZD7_HUMAN PDZD7 PDZ domain-containing protein 7 1033 111.8 10 Cell projection; Nucleus 0 3 Deafness, autosomal recessive, 57; Usher syndrome 2C; Usher syndrome 2A 2 1 5 2005-08-16 Q9H845 ACAD9_HUMAN ACAD9 Complex I assembly factor ACAD9, mitochondrial 621 68.8 3 Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 20 2 1 5 2003-07-03 Q9H974 QTRT2_HUMAN QTRT2 Queuine tRNA-ribosyltransferase accessory subunit 2 415 46.7 3 Cytoplasm; Mitochondrion outer membrane 0 0 2 1 5 2007-07-24 Q9HA47 UCK1_HUMAN UCK1 Uridine-cytidine kinase 1 277 31.4 9 2.7.1.48 0 0 2 1 5 2002-05-02 Q9HCL2 GPAT1_HUMAN GPAM Glycerol-3-phosphate acyltransferase 1, mitochondrial 828 93.8 10 2.3.1.15 Mitochondrion outer membrane 0 0 2 1 5 2001-06-01 Q9HCU9 BRMS1_HUMAN BRMS1 Breast cancer metastasis-suppressor 1 246 28.5 11 Nucleus; Cytoplasm 0 0 2 1 5 2001-09-26 Q9NP99 TREM1_HUMAN TREM1 Triggering receptor expressed on myeloid cells 1 234 26.4 6 Cell membrane 1 0 2 1 5 2004-07-19 Q9NQC3 RTN4_HUMAN RTN4 Reticulon-4 1192 129.9 2 Endoplasmic reticulum membrane; Cell membrane; Synapse 2 0 2 1 5 2001-11-16 Q9NRW3 ABC3C_HUMAN APOBEC3C DNA dC->dU-editing enzyme APOBEC-3C 190 22.8 22 3.5.4.38 Nucleus; Cytoplasm 0 0 2 1 5 2004-03-29 Q9NSC5 HOME3_HUMAN HOMER3 Homer protein homolog 3 361 39.8 19 Cytoplasm; Postsynaptic density; Synapse 0 0 2 1 5 2003-11-28 Q9NSV4 DIAP3_HUMAN DIAPH3 Protein diaphanous homolog 3 1193 136.9 13 Cytoplasm; Nucleus 0 1 Auditory neuropathy, autosomal dominant 1 2 1 5 2001-02-21 Q9NT68 TEN2_HUMAN TENM2 Teneurin-2 2774 307.8 5 Cell membrane; Presynaptic cell membrane; Postsynaptic cell membrane; Endoplasmic reticulum; Golgi apparatus; Synapse; Cell projection 1 0 2 1 5 2006-10-31 Q9NTW7 ZF64B_HUMAN ZFP64 Zinc finger protein 64 645 72.2 20 Nucleus 0 0 2 1 5 2002-03-27 Q9NUI1 DECR2_HUMAN DECR2 Peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] 292 30.8 16 1.3.1.124 Peroxisome 0 0 2 1 5 2005-05-10 Q9NX09 DDIT4_HUMAN DDIT4 DNA damage-inducible transcript 4 protein 232 25.4 10 Mitochondrion; Cytoplasm 0 0 2 1 5 2007-10-23 Q9NYQ6 CELR1_HUMAN CELSR1 Cadherin EGF LAG seven-pass G-type receptor 1 3014 329.5 22 Cell membrane 7 3 Neural tube defects; Lymphatic malformation 9; Yellow nail syndrome 2 1 5 2002-08-02 Q9NYZ3 GTSE1_HUMAN GTSE1 G2 and S phase-expressed protein 1 739 78.5 22 Cytoplasm 0 0 2 1 5 2002-07-26 Q9UBF9 MYOTI_HUMAN MYOT Myotilin 498 55.4 5 Cell membrane; Cytoplasm 0 1 Myopathy, myofibrillar, 3 2 1 5 2005-03-29 Q9UGM5 FETUB_HUMAN FETUB Fetuin-B 382 42.1 3 Secreted 0 0 2 1 5 2000-12-01 Q9UHY7 ENOPH_HUMAN ENOPH1 Enolase-phosphatase E1 261 28.9 4 3.1.3.77 Cytoplasm; Nucleus 0 0 2 1 5 2006-10-31 Q9UIL1 SCOC_HUMAN SCOC Short coiled-coil protein 159 18 4 Golgi apparatus membrane; Golgi apparatus; Cytoplasm 0 0 2 1 5 2008-05-20 Q9UKN5 PRDM4_HUMAN PRDM4 PR domain zinc finger protein 4 801 87.9 12 2.1.1.- Nucleus 0 0 2 1 5 2001-11-16 Q9UKP6 UR2R_HUMAN UTS2R Urotensin-2 receptor 389 42.1 17 Cell membrane 7 0 2 1 5 2000-12-01 Q9UL51 HCN2_HUMAN HCN2 Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 889 97 19 Cell membrane 6 2 Epilepsy, idiopathic generalized 17; Febrile seizures, familial, 2 2 1 5 2003-02-28 Q9UM82 SPAT2_HUMAN SPATA2 Spermatogenesis-associated protein 2 520 58.4 20 Cytoplasm; Nucleus 0 0 2 1 5 2001-04-27 Q9UNU6 CP8B1_HUMAN CYP8B1 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase 501 58.1 3 1.14.14.139 Endoplasmic reticulum membrane; Microsome membrane 1 0 2 1 5 2001-02-21 Q9UQ26 RIMS2_HUMAN RIMS2 Regulating synaptic membrane exocytosis protein 2 1411 160.4 8 Cell membrane; Synapse; Presynaptic cell membrane 0 1 Cone-rod synaptic disorder syndrome, congenital non-progressive 2 1 5 2003-08-29 Q9Y2G5 OFUT2_HUMAN POFUT2 GDP-fucose protein O-fucosyltransferase 2 429 50 21 2.4.1.221 Endoplasmic reticulum; Golgi apparatus 0 0 2 1 5 2000-05-30 Q9Y2I1 NISCH_HUMAN NISCH Nischarin 1504 166.6 3 Cell membrane; Cytoplasm; Early endosome; Recycling endosome 0 0 2 1 5 2008-09-02 Q9Y5B8 NDK7_HUMAN NME7 Nucleoside diphosphate kinase 7 376 42.5 1 Cytoplasm; Nucleus; Cell projection 0 0 2 1 5 2001-01-11 Q9Y5J7 TIM9_HUMAN TIMM9 Mitochondrial import inner membrane translocase subunit Tim9 89 10.4 14 Mitochondrion inner membrane 0 0 2 1 5 2001-01-11 Q9Y5P3 RAI2_HUMAN RAI2 Retinoic acid-induced protein 2 530 57.2 X 0 0 2 1 5 2000-12-01 Q9Y5Q8 TF3C5_HUMAN GTF3C5 General transcription factor 3C polypeptide 5 519 59.6 9 Nucleus 0 0 2 1 5 2004-05-24 Q9Y6F8 CDY1_HUMAN CDY1 Testis-specific chromodomain protein Y 1 540 60.5 Y 2.3.1.48 Nucleus 0 0 2 1 5 2002-01-23 Q9Y6W3 CAN7_HUMAN CAPN7 Calpain-7 813 92.7 3 3.4.22.- Nucleus 0 0 2 1 5 2003-07-19 Q9Y6W8 ICOS_HUMAN ICOS Inducible T-cell costimulator 199 22.6 2 Cell membrane 1 1 Immunodeficiency, common variable, 1 2 1 5 2004-07-19 Q9Y6X5 ENPP4_HUMAN ENPP4 Bis(5'-adenosyl)-triphosphatase ENPP4 453 51.6 6 3.6.1.29 Cell membrane 1 0 2 1 5 2008-03-18 A4D1E9 GTPBA_HUMAN GTPBP10 GTP-binding protein 10 387 42.9 7 Nucleus; Chromosome 0 0 2 1 5 2007-12-04 O00189 AP4M1_HUMAN AP4M1 AP-4 complex subunit mu-1 453 50 7 Golgi apparatus; Early endosome 0 1 Spastic paraplegia 50, autosomal recessive 2 1 5 2001-04-27 O00253 AGRP_HUMAN AGRP Agouti-related protein 132 14.4 16 Secreted; Golgi apparatus lumen 0 1 Obesity 2 1 5 1997-11-01 O00294 TULP1_HUMAN TULP1 Tubby-related protein 1 542 60.6 6 Cytoplasm; Cell membrane; Secreted; Synapse 0 2 Retinitis pigmentosa 14; Leber congenital amaurosis 15 2 1 5 2000-05-30 O00470 MEIS1_HUMAN MEIS1 Homeobox protein Meis1 390 43 2 Nucleus 0 1 Restless legs syndrome 7 2 1 5 1998-07-15 O14579 COPE_HUMAN COPE Coatomer subunit epsilon 308 34.5 19 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle 0 0 2 1 5 2000-05-30 O14669 TMG2_HUMAN PRRG2 Transmembrane gamma-carboxyglutamic acid protein 2 202 22.4 19 Cell membrane 1 0 2 1 5 2002-01-23 O15211 RGL2_HUMAN RGL2 Ral guanine nucleotide dissociation stimulator-like 2 777 83.5 6 0 0 2 1 5 2000-05-30 O15226 NKRF_HUMAN NKRF NF-kappa-B-repressing factor 690 77.7 X Nucleus 0 0 2 1 5 1998-07-15 O43390 HNRPR_HUMAN HNRNPR Heterogeneous nuclear ribonucleoprotein R 633 70.9 1 Nucleus; Microsome; Cytoplasm 0 1 Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities 2 1 5 2001-01-11 O43633 CHM2A_HUMAN CHMP2A Charged multivesicular body protein 2a 222 25.1 19 Late endosome membrane; Nucleus envelope 0 0 2 1 5 2005-08-30 O60259 KLK8_HUMAN KLK8 Kallikrein-8 260 28 19 3.4.21.118 Secreted; Cytoplasm 0 0 2 1 5 1999-07-15 O60308 CE104_HUMAN CEP104 Centrosomal protein of 104 kDa 925 104.4 1 Cell projection; Cytoplasm 0 2 Joubert syndrome 25; Intellectual developmental disorder, autosomal recessive 77 2 1 5 2002-01-23 O60496 DOK2_HUMAN DOK2 Docking protein 2 412 45.4 8 0 0 2 1 5 2001-11-16 O60565 GREM1_HUMAN GREM1 Gremlin-1 184 20.7 15 Secreted 0 1 Polyposis syndrome, mixed hereditary 1 2 1 5 2005-04-12 O60888 CUTA_HUMAN CUTA Protein CutA 179 19.1 6 0 0 2 1 5 2005-03-15 O75112 LDB3_HUMAN LDB3 LIM domain-binding protein 3 727 77.1 10 Cytoplasm; Cell projection 0 5 Cardiomyopathy, dilated, 1C, with or without left ventricular non-compaction; Left ventricular non-compaction 3; Myopathy, myofibrillar, 4; Cardiomyopathy, familial hypertrophic, 24; Cardiomyopathy, dilated, 2L 2 1 5 2005-12-06 O75368 SH3L1_HUMAN SH3BGRL Adapter SH3BGRL 114 12.8 X Cytoplasm; Cell membrane 0 0 2 1 5 2001-01-11 O75746 S2512_HUMAN SLC25A12 Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial 678 74.8 2 Mitochondrion inner membrane 6 1 Developmental and epileptic encephalopathy 39 with leukodystrophy 2 1 5 2001-02-21 O75920 SERF1_HUMAN SERF1A Small EDRK-rich factor 1 110 12.3 5 Cytoplasm; Nucleus 0 0 2 1 5 2002-09-19 O75955 FLOT1_HUMAN FLOT1 Flotillin-1 427 47.4 6 Cell membrane; Endosome; Membrane; Melanosome; Membrane raft 0 0 2 1 5 2001-02-21 O94779 CNTN5_HUMAN CNTN5 Contactin-5 1100 120.7 11 Cell membrane 0 0 2 1 5 2004-11-23 O94885 SASH1_HUMAN SASH1 SAM and SH3 domain-containing protein 1 1247 136.7 6 Cytoplasm 0 2 Dyschromatosis universalis hereditaria 1; Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 2 1 5 2003-08-15 O94992 HEXI1_HUMAN HEXIM1 Protein HEXIM1 359 40.6 17 Nucleus; Cytoplasm 0 0 2 1 5 2007-10-02 O95059 RPP14_HUMAN RPP14 Ribonuclease P protein subunit p14 124 13.7 3 Nucleus 0 0 2 1 5 2000-05-30 O95210 STBD1_HUMAN STBD1 Starch-binding domain-containing protein 1 358 39 4 Preautophagosomal structure membrane; Endoplasmic reticulum membrane; Cell membrane 1 0 2 1 5 2004-02-02 O95278 EPM2A_HUMAN EPM2A Laforin 331 37.2 6 3.1.3.-, 3.1.3.16, 3.1.3.48 Cytoplasm 0 1 Myoclonic epilepsy of lafora 1 2 1 5 2004-07-19 O95484 CLD9_HUMAN CLDN9 Claudin-9 217 22.8 16 Cell junction; Cell membrane 4 1 Deafness, autosomal recessive, 116 2 1 5 2000-05-30 O95833 CLIC3_HUMAN CLIC3 Chloride intracellular channel protein 3 236 26.6 9 Nucleus; Membrane; Cell membrane; Cytoplasm; Secreted 1 0 2 1 5 2000-05-30 O95948 ONEC2_HUMAN ONECUT2 One cut domain family member 2 504 54.3 18 Nucleus 0 0 2 1 5 2001-04-27 P01148 GON1_HUMAN GNRH1 Progonadoliberin-1 92 10.4 8 Secreted 0 1 Hypogonadotropic hypogonadism 12 with or without anosmia 2 1 5 1986-07-21 P04001 OPSG_HUMAN OPN1MW Medium-wave-sensitive opsin 1 364 40.6 X Cell membrane; Photoreceptor outer segment membrane 7 3 Colorblindness, partial, deutan series; Blue cone monochromacy; Cone dystrophy 5 2 1 5 1986-10-23 P04066 FUCO_HUMAN FUCA1 Tissue alpha-L-fucosidase 466 53.7 1 3.2.1.51 Lysosome 0 1 Fucosidosis 2 1 5 1986-11-01 P05156 CFAI_HUMAN CFI Complement factor I 583 65.8 4 3.4.21.45 Secreted 0 3 Hemolytic uremic syndrome, atypical, 3; Complement factor I deficiency; Macular degeneration, age-related, 13 2 1 5 1987-08-13 P07864 LDHC_HUMAN LDHC L-lactate dehydrogenase C chain 332 36.3 11 1.1.1.27 Cytoplasm 0 0 2 1 5 1988-08-01 P08118 MSMB_HUMAN MSMB Beta-microseminoprotein 114 12.9 10 Secreted 0 1 Prostate cancer, hereditary, 13 2 1 5 1988-08-01 P08962 CD63_HUMAN CD63 CD63 antigen 238 25.6 12 Cell membrane; Lysosome membrane; Late endosome membrane; Endosome; Melanosome; Secreted; Cell surface 4 0 2 1 5 1988-11-01 P09327 VILI_HUMAN VIL1 Villin-1 827 92.7 2 Cytoplasm; Cell projection 0 0 2 1 5 1989-07-01 P0DMM9 ST1A3_HUMAN SULT1A3 Sulfotransferase 1A3 295 34.2 16 2.8.2.1 Cytoplasm 0 0 2 1 5 2014-09-03 P13945 ADRB3_HUMAN ADRB3 Beta-3 adrenergic receptor 408 43.5 8 Cell membrane 7 0 2 1 5 1990-01-01 P14672 GLUT4_HUMAN SLC2A4 Solute carrier family 2, facilitated glucose transporter member 4 509 54.8 17 Cell membrane; Endomembrane system; Cytoplasm 12 1 Type 2 diabetes mellitus 2 1 5 1990-04-01 P15036 ETS2_HUMAN ETS2 Protein C-ets-2 469 53 21 Nucleus 0 0 2 1 5 1990-04-01 P15509 CSF2R_HUMAN CSF2RA Granulocyte-macrophage colony-stimulating factor receptor subunit alpha 400 46.2 X Cell membrane 1 1 Pulmonary surfactant metabolism dysfunction 4 2 1 5 1990-04-01 P15882 CHIN_HUMAN CHN1 N-chimaerin 459 53.2 2 0 1 Duane retraction syndrome 2 2 1 5 1990-04-01 P16860 ANFB_HUMAN NPPB Natriuretic peptides B 134 14.7 1 Secreted 0 0 2 1 5 1990-08-01 P17213 BPI_HUMAN BPI Bactericidal permeability-increasing protein 487 53.9 20 Secreted; Cytoplasmic granule membrane 0 0 2 1 5 1990-08-01 P17844 DDX5_HUMAN DDX5 Probable ATP-dependent RNA helicase DDX5 614 69.1 17 3.6.4.13 Nucleus; Nucleus speckle; Cytoplasm 0 0 2 1 5 1990-08-01 P19827 ITIH1_HUMAN ITIH1 Inter-alpha-trypsin inhibitor heavy chain H1 911 101.4 3 Secreted 0 0 2 1 5 1991-02-01 P20142 PEPC_HUMAN PGC Gastricsin 388 42.4 6 3.4.23.3 Secreted 0 0 2 1 5 1991-02-01 P20749 BCL3_HUMAN BCL3 B-cell lymphoma 3 protein 454 47.6 19 Nucleus; Cytoplasm 0 0 2 1 5 1991-02-01 P21741 MK_HUMAN MDK Midkine 143 15.6 11 Secreted 0 0 2 1 5 1991-05-01 P21817 RYR1_HUMAN RYR1 Ryanodine receptor 1 5038 565.2 19 Sarcoplasmic reticulum membrane 6 4 Malignant hyperthermia 1; Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia; Congenital myopathy 1B, autosomal recessive; King-Denborough syndrome 2 1 5 1991-05-01 P22059 OSBP1_HUMAN OSBP Oxysterol-binding protein 1 807 89.4 11 Cytoplasm; Golgi apparatus membrane; Endoplasmic reticulum membrane; Golgi apparatus 0 0 2 1 5 1991-08-01 P23634 AT2B4_HUMAN ATP2B4 Plasma membrane calcium-transporting ATPase 4 1241 137.9 1 7.2.2.10 Cell membrane; Cell projection 10 0 2 1 5 1991-11-01 P25325 THTM_HUMAN MPST 3-mercaptopyruvate sulfurtransferase 297 33.2 22 2.8.1.2 Cytoplasm; Mitochondrion; Synapse 0 0 2 1 5 1992-05-01 P26367 PAX6_HUMAN PAX6 Paired box protein Pax-6 422 46.7 11 Nucleus 0 8 Aniridia 1; Anterior segment dysgenesis 5; Foveal hypoplasia 1; Keratitis hereditary; Microphthalmia/coloboma 12; Coloboma of optic nerve; Bilateral optic nerve hypoplasia; Aniridia 2 2 1 5 1992-08-01 P28336 NMBR_HUMAN NMBR Neuromedin-B receptor 390 43.4 6 Cell membrane 7 0 2 1 5 1992-12-01 P30048 PRDX3_HUMAN PRDX3 Thioredoxin-dependent peroxide reductase, mitochondrial 256 27.7 10 1.11.1.24 Mitochondrion; Cytoplasm; Early endosome 0 2 Spinocerebellar ataxia, autosomal recessive, 32; Corneal dystrophy, punctiform and polychromatic pre-Descemet 2 1 5 1993-04-01 P34096 RNAS4_HUMAN RNASE4 Ribonuclease 4 147 16.8 14 3.1.27.- Secreted 0 0 2 1 5 1994-02-01 P36896 ACV1B_HUMAN ACVR1B Activin receptor type-1B 505 56.8 12 2.7.11.30 Cell membrane 1 0 2 1 5 1994-06-01 P42765 THIM_HUMAN ACAA2 3-ketoacyl-CoA thiolase, mitochondrial 397 41.9 18 2.3.1.16 Mitochondrion 0 0 2 1 5 1995-11-01 P47902 CDX1_HUMAN CDX1 Homeobox protein CDX-1 265 28.1 5 Nucleus 0 0 2 1 5 1996-02-01 P47989 XDH_HUMAN XDH Xanthine dehydrogenase/oxidase 1333 146.4 2 Cytoplasm; Peroxisome; Secreted 0 1 Xanthinuria 1 2 1 5 1996-02-01 P48449 LSS_HUMAN LSS Lanosterol synthase 732 83.3 21 5.4.99.7 Endoplasmic reticulum membrane 0 3 Cataract 44; Hypotrichosis 14; Alopecia-intellectual disability syndrome 4 2 1 5 1996-02-01 P49763 PLGF_HUMAN PGF Placenta growth factor 221 24.8 14 Secreted 0 0 2 1 5 1996-10-01 P49810 PSN2_HUMAN PSEN2 Presenilin-2 448 50.1 1 3.4.23.- Endoplasmic reticulum membrane; Golgi apparatus membrane; Late endosome membrane; Lysosome membrane 8 2 Alzheimer disease 4; Cardiomyopathy, dilated, 1V 2 1 5 1996-10-01 P50548 ERF_HUMAN ERF ETS domain-containing transcription factor ERF 548 58.7 19 Nucleus 0 2 Craniosynostosis 4; Chitayat syndrome 2 1 5 1996-10-01 P51858 HDGF_HUMAN HDGF Hepatoma-derived growth factor 240 26.8 1 Nucleus; Cytoplasm; Secreted 0 0 2 1 5 1996-10-01 P52888 THOP1_HUMAN THOP1 Thimet oligopeptidase 689 78.8 19 3.4.24.15 Cytoplasm 0 0 2 1 5 1996-10-01 P56178 DLX5_HUMAN DLX5 Homeobox protein DLX-5 289 31.5 7 Nucleus 0 1 Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 2 1 5 1997-11-01 P57768 SNX16_HUMAN SNX16 Sorting nexin-16 344 39.2 8 Early endosome membrane; Late endosome membrane; Cytoplasm; Lysosome 0 0 2 1 5 2001-02-21 P58400 NRX1B_HUMAN NRXN1 Neurexin-1-beta 472 50.4 2 Presynaptic cell membrane 1 0 2 1 5 2001-11-16 P61009 SPCS3_HUMAN SPCS3 Signal peptidase complex subunit 3 180 20.3 4 Endoplasmic reticulum membrane 1 0 2 1 5 2004-04-26 P61328 FGF12_HUMAN FGF12 Fibroblast growth factor 12 243 27.4 3 Nucleus 0 1 Developmental and epileptic encephalopathy 47 2 1 5 2004-05-10 P61916 NPC2_HUMAN NPC2 NPC intracellular cholesterol transporter 2 151 16.6 14 Secreted; Endoplasmic reticulum; Lysosome 0 1 Niemann-Pick disease C2 2 1 5 2004-06-07 P63162 RSMN_HUMAN SNRPN Small nuclear ribonucleoprotein-associated protein N 240 24.6 15 Nucleus 0 0 2 1 5 2004-09-27 P80192 M3K9_HUMAN MAP3K9 Mitogen-activated protein kinase kinase kinase 9 1104 121.9 14 2.7.11.25 0 0 2 1 5 1994-02-01 P83110 HTRA3_HUMAN HTRA3 Serine protease HTRA3 453 48.6 4 3.4.21.- Secreted 0 0 2 1 5 2001-09-26 Q00526 CDK3_HUMAN CDK3 Cyclin-dependent kinase 3 305 35 17 2.7.11.22 0 0 2 1 5 1993-04-01 Q01415 GALK2_HUMAN GALK2 N-acetylgalactosamine kinase 458 50.4 15 2.7.1.157 0 0 2 1 5 1993-07-01 Q02643 GHRHR_HUMAN GHRHR Growth hormone-releasing hormone receptor 423 47.4 7 Cell membrane 7 1 Growth hormone deficiency, isolated, 4 2 1 5 1993-10-01 Q04721 NOTC2_HUMAN NOTCH2 Neurogenic locus notch homolog protein 2 2471 265.4 1 Cell membrane 1 2 Alagille syndrome 2; Hajdu-Cheney syndrome 2 1 5 2002-03-27 Q13011 ECH1_HUMAN ECH1 Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial 328 35.8 19 5.3.3.21 Mitochondrion; Peroxisome 0 0 2 1 5 1997-11-01 Q13393 PLD1_HUMAN PLD1 Phospholipase D1 1074 124.2 3 3.1.4.4 Cytoplasm; Endoplasmic reticulum membrane; Golgi apparatus membrane; Late endosome membrane 0 1 Cardiac valvular dysplasia 1 2 1 5 1997-11-01 Q13472 TOP3A_HUMAN TOP3A DNA topoisomerase 3-alpha 1001 112.4 17 5.6.2.1 Mitochondrion matrix 0 2 Microcephaly, growth restriction, and increased sister chromatid exchange 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 2 1 5 1997-11-01 Q14624 ITIH4_HUMAN ITIH4 Inter-alpha-trypsin inhibitor heavy chain H4 930 103.4 3 Secreted 0 0 2 1 5 1998-07-15 Q14694 UBP10_HUMAN USP10 Ubiquitin carboxyl-terminal hydrolase 10 798 87.1 16 3.4.19.12 Cytoplasm; Nucleus; Early endosome 0 0 2 1 5 1997-11-01 Q149N8 SHPRH_HUMAN SHPRH E3 ubiquitin-protein ligase SHPRH 1683 193.1 6 2.3.2.27, 3.6.4.- 0 0 2 1 5 2007-05-01 Q15005 SPCS2_HUMAN SPCS2 Signal peptidase complex subunit 2 226 25 11 Endoplasmic reticulum membrane 2 0 2 1 5 1998-07-15 Q15262 PTPRK_HUMAN PTPRK Receptor-type tyrosine-protein phosphatase kappa 1439 162.1 6 3.1.3.48 Cell junction; Cell membrane 1 0 2 1 5 1997-11-01 Q15397 PUM3_HUMAN PUM3 Pumilio homolog 3 648 73.6 9 Nucleus; Chromosome 0 0 2 1 5 2000-05-30 Q15649 ZNHI3_HUMAN ZNHIT3 Zinc finger HIT domain-containing protein 3 155 17.6 17 Cytoplasm; Nucleus 0 1 PEHO syndrome 2 1 5 1997-11-01 Q15751 HERC1_HUMAN HERC1 Probable E3 ubiquitin-protein ligase HERC1 4861 532.2 15 2.3.2.26 Membrane; Cytoplasm; Golgi apparatus 0 1 Macrocephaly, dysmorphic facies, and psychomotor retardation 2 1 5 2008-04-08 Q16254 E2F4_HUMAN E2F4 Transcription factor E2F4 413 44 16 Nucleus 0 0 2 1 5 1997-11-01 Q16775 GLO2_HUMAN HAGH Hydroxyacylglutathione hydrolase, mitochondrial 308 33.8 16 3.1.2.6 Mitochondrion matrix 0 0 2 1 5 1997-11-01 Q29980 MICB_HUMAN MICB MHC class I polypeptide-related sequence B 383 42.6 6 Cell membrane 1 1 Rheumatoid arthritis 2 1 5 2008-06-10 Q2KHR2 RFX7_HUMAN RFX7 DNA-binding protein RFX7 1460 157.4 15 Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 2 1 5 2008-07-01 Q2VPB7 AP5B1_HUMAN AP5B1 AP-5 complex subunit beta-1 878 93.9 11 0 0 2 1 5 2011-03-08 Q30201 HFE_HUMAN HFE Hereditary hemochromatosis protein 348 40.1 6 Cell membrane 1 1 Hemochromatosis 1 2 1 5 1997-11-01 Q3SYG4 PTHB1_HUMAN BBS9 Protein PTHB1 887 99.3 7 Cytoplasm; Cell projection 0 1 Bardet-Biedl syndrome 9 2 1 5 2006-05-16 Q5BKX6 S45A4_HUMAN SLC45A4 Polyamine-transporter SLC45A4 768 83.9 8 Cell membrane 12 0 2 1 5 2008-05-20 Q5FWF5 ESCO1_HUMAN ESCO1 N-acetyltransferase ESCO1 840 95 18 2.3.1.- Nucleus; Chromosome 0 0 2 1 5 2005-06-07 Q5JVL4 EFHC1_HUMAN EFHC1 EF-hand domain-containing protein 1 640 74 6 Cytoplasm 0 2 Juvenile myoclonic epilepsy 1; Juvenile absence epilepsy 1 2 1 5 2005-10-25 Q5SYB0 FRPD1_HUMAN FRMPD1 FERM and PDZ domain-containing protein 1 1578 173.4 9 Cytoplasm; Cell membrane 0 0 2 1 5 2007-10-02 Q5T2T1 MPP7_HUMAN MPP7 MAGUK p55 subfamily member 7 576 65.5 10 Membrane; Lateral cell membrane; Cell junction; Cytoplasm 0 0 2 1 5 2008-02-26 Q5T8I9 HENMT_HUMAN HENMT1 Small RNA 2'-O-methyltransferase 393 44.5 1 2.1.1.386 Cytoplasm 0 0 2 1 5 2007-09-11 Q5VTT2 CFA95_HUMAN CFAP95 Cilia- and flagella-associated protein 95 229 26.4 9 Cytoplasm; Cell membrane 1 0 2 1 5 2007-01-09 Q5VVJ2 MYSM1_HUMAN MYSM1 Deubiquitinase MYSM1 828 95 1 3.4.19.- Nucleus; Cytoplasm 0 1 Bone marrow failure syndrome 4 2 1 5 2006-05-02 Q5VY80 ULBP6_HUMAN RAET1L UL16-binding protein 6 246 27.5 6 Cell membrane; Endoplasmic reticulum 0 0 2 1 5 2008-02-26 Q69384 ENK6_HUMAN ERVK-6 Endogenous retrovirus group K member 6 Env polyprotein 699 79.2 Cell membrane 1 0 2 1 5 2004-05-24 Q6P4Q7 CNNM4_HUMAN CNNM4 Metal transporter CNNM4 775 86.6 2 Cell membrane 3 1 Jalili syndrome 2 1 5 2007-07-24 Q6PIF2 SYCE2_HUMAN SYCE2 Synaptonemal complex central element protein 2 218 24.7 19 Nucleus; Chromosome 0 0 2 1 5 2006-11-28 Q6UVJ0 SAS6_HUMAN SASS6 Spindle assembly abnormal protein 6 homolog 657 74.4 1 Cytoplasm 0 1 Microcephaly 14, primary, autosomal recessive 2 1 5 2005-04-12 Q71UI9 H2AV_HUMAN H2AZ2 Histone H2A.V 128 13.5 7 Nucleus; Chromosome 0 0 2 1 5 2006-05-30 Q7Z2Z2 EFL1_HUMAN EFL1 Elongation factor-like GTPase 1 1120 125.4 15 3.6.5.- 0 1 Shwachman-Diamond syndrome 2 2 1 5 2008-01-15 Q86SF2 GALT7_HUMAN GALNT7 N-acetylgalactosaminyltransferase 7 657 75.4 4 2.4.1.41 Golgi apparatus membrane 1 0 2 1 5 2004-08-16 Q86WT6 TRI69_HUMAN TRIM69 E3 ubiquitin-protein ligase TRIM69 500 57.4 15 2.3.2.27 Cytoplasm; Nucleus; Nucleus speckle 0 0 2 1 5 2007-02-20 Q86YI8 PHF13_HUMAN PHF13 PHD finger protein 13 300 33.6 1 Nucleus 0 0 2 1 5 2003-08-15 Q8IWB6 TEX14_HUMAN TEX14 Inactive serine/threonine-protein kinase TEX14 1497 167.9 17 Cytoplasm; Midbody; Chromosome 0 1 Spermatogenic failure 23 2 1 5 2006-07-25 Q8IWY9 CDAN1_HUMAN CDAN1 Codanin-1 1227 134.1 15 Cytoplasm; Nucleus; Membrane 2 1 Anemia, congenital dyserythropoietic, 1A 2 1 5 2003-11-07 Q8IX04 UEVLD_HUMAN UEVLD Ubiquitin-conjugating enzyme E2 variant 3 471 52.3 11 0 0 2 1 5 2007-02-20 Q8N0X7 SPART_HUMAN SPART Spartin 666 72.8 13 Cytoplasm; Midbody; Lipid droplet 0 1 Spastic paraplegia 20, autosomal recessive 2 1 5 2004-07-19 Q8N158 GPC2_HUMAN GPC2 Glypican-2 579 62.8 7 Cell membrane 0 0 2 1 5 2005-03-01 Q8N1V2 CFA52_HUMAN CFAP52 Cilia- and flagella-associated protein 52 620 68.3 17 Cytoplasm 0 1 Heterotaxy, visceral, 10, autosomal, with male infertility 2 1 5 2006-05-02 Q8N2A8 PLD6_HUMAN PLD6 Mitochondrial cardiolipin hydrolase 252 28.3 17 3.1.4.- Mitochondrion outer membrane; Golgi apparatus 1 0 2 1 5 2008-03-18 Q8N2Q7 NLGN1_HUMAN NLGN1 Neuroligin-1 863 96.4 3 Cell membrane; Postsynaptic density; Synaptic cleft; Synaptic cell membrane; Cell projection; Synapse 1 1 Autism 20 2 1 5 2003-05-23 Q8N3C0 ASCC3_HUMAN ASCC3 Activating signal cointegrator 1 complex subunit 3 2202 251.5 6 5.6.2.4 Nucleus; Nucleus speckle; Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 81 2 1 5 2004-07-19 Q8N4T8 CBR4_HUMAN CBR4 3-oxoacyl-[acyl-carrier-protein] reductase 237 25.3 4 1.1.1.100 Mitochondrion matrix 0 0 2 1 5 2008-02-26 Q8NBF2 NHLC2_HUMAN NHLRC2 NHL repeat-containing protein 2 726 79.4 10 Cytoplasm 0 1 Fibrosis, neurodegeneration, and cerebral angiomatosis 2 1 5 2008-01-15 Q8NCN4 RN169_HUMAN RNF169 E3 ubiquitin-protein ligase RNF169 708 77.2 11 2.3.2.27 Chromosome; Nucleus 0 0 2 1 5 2006-07-11 Q8NDD1 FSAF1_HUMAN FSAF1 40S small subunit processome assembly factor 1 293 32.6 1 Chromosome; Nucleus 0 0 2 1 5 2007-05-01 Q8NEH6 MNS1_HUMAN MNS1 Meiosis-specific nuclear structural protein 1 495 60.6 15 Nucleus; Cytoplasm 0 1 Heterotaxy, visceral, 9, autosomal, with male infertility 2 1 5 2007-08-21 Q8NG06 TRI58_HUMAN TRIM58 E3 ubiquitin-protein ligase TRIM58 486 54.8 1 2.3.2.27 0 0 2 1 5 2007-01-23 Q8NHV4 NEDD1_HUMAN NEDD1 Protein NEDD1 660 72 12 Cytoplasm 0 0 2 1 5 2005-11-22 Q8TAT5 NEIL3_HUMAN NEIL3 Endonuclease 8-like 3 605 67.8 4 3.2.2.-, 4.2.99.18 Nucleus; Chromosome 0 0 2 1 5 2004-12-07 Q8TD19 NEK9_HUMAN NEK9 Serine/threonine-protein kinase Nek9 979 107.2 14 2.7.11.38 Cytoplasm; Nucleus 0 3 Lethal congenital contracture syndrome 10; Nevus comedonicus; Arthrogryposis, Perthes disease, and upward gaze palsy 2 1 5 2003-08-15 Q8TDB6 DTX3L_HUMAN DTX3L E3 ubiquitin-protein ligase DTX3L 740 83.6 3 2.3.2.27 Cytoplasm; Nucleus; Early endosome membrane; Lysosome membrane 0 0 2 1 5 2003-09-26 Q8TF72 SHRM3_HUMAN SHROOM3 Protein Shroom3 1996 216.9 4 Cell junction; Cytoplasm; Apical cell membrane 0 0 2 1 5 2007-05-01 Q8WWW0 RASF5_HUMAN RASSF5 Ras association domain-containing protein 5 418 47.1 1 Cytoplasm 0 0 2 1 5 2006-06-27 Q8WXD5 GEMI6_HUMAN GEMIN6 Gem-associated protein 6 167 18.8 2 Nucleus; Cytoplasm 0 0 2 1 5 2003-09-19 Q8WXI2 CNKR2_HUMAN CNKSR2 Connector enhancer of kinase suppressor of ras 2 1034 117.5 X Cytoplasm; Membrane 0 1 Intellectual developmental disorder, X-linked, syndromic, Houge type 2 1 5 2004-07-19 Q8WXI4 ACO11_HUMAN ACOT11 Acyl-coenzyme A thioesterase 11 607 68.5 1 3.1.2.- Mitochondrion matrix; Cytoplasm 0 0 2 1 5 2002-06-06 Q8WYP5 ELYS_HUMAN AHCTF1 Protein ELYS 2266 252.5 1 Cytoplasm; Nucleus; Nucleus envelope; Nucleus matrix; Chromosome 0 0 2 1 5 2006-07-25 Q92484 ASM3A_HUMAN SMPDL3A Cyclic GMP-AMP phosphodiesterase SMPDL3A 453 51.3 6 3.1.4.- Secreted 0 0 2 1 5 2001-08-29 Q92599 SEPT8_HUMAN SEPTIN8 Septin-8 483 55.8 5 Cytoplasm; Synapse; Cell projection; Cytoplasmic vesicle; Presynapse 0 0 2 1 5 2000-12-01 Q92619 HMHA1_HUMAN ARHGAP45 Rho GTPase-activating protein 45 1136 124.6 19 Cytoplasm; Cell projection 0 0 2 1 5 2008-04-29 Q92823 NRCAM_HUMAN NRCAM Neuronal cell adhesion molecule 1304 143.9 7 Cell membrane; Cell projection; Secreted 1 1 Neurodevelopmental disorder with neuromuscular and skeletal abnormalities 2 1 5 2003-07-19 Q969V6 MRTFA_HUMAN MRTFA Myocardin-related transcription factor A 931 98.9 22 Cytoplasm; Nucleus 0 1 Immunodeficiency 66 2 1 5 2003-06-27 Q96AX1 VP33A_HUMAN VPS33A Vacuolar protein sorting-associated protein 33A 596 67.6 12 Cytoplasmic vesicle; Late endosome membrane; Lysosome membrane; Early endosome 0 1 Mucopolysaccharidosis-plus syndrome 2 1 5 2002-09-19 Q96AZ6 ISG20_HUMAN ISG20 Interferon-stimulated gene 20 kDa protein 181 20.4 15 3.1.13.1 Nucleus; Cytoplasm 0 0 2 1 5 2005-01-04 Q96BD5 PF21A_HUMAN PHF21A PHD finger protein 21A 680 74.9 11 Nucleus 0 1 Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 2 1 5 2006-03-07 Q96BZ9 TBC20_HUMAN TBC1D20 TBC1 domain family member 20 403 45.9 20 Membrane 2 1 Warburg micro syndrome 4 2 1 5 2003-08-29 Q96D42 HAVR1_HUMAN HAVCR1 Hepatitis A virus cellular receptor 1 364 39.3 5 Cell membrane; Cell projection; Cytoplasmic vesicle 1 0 2 1 5 2005-08-30 Q96GY3 LIN37_HUMAN LIN37 Protein lin-37 homolog 246 28.4 19 0 0 2 1 5 2006-05-30 Q96HU8 DIRA2_HUMAN DIRAS2 GTP-binding protein Di-Ras2 199 22.5 9 3.6.5.- Cell membrane 0 0 2 1 5 2005-03-29 Q96JC9 EAF1_HUMAN EAF1 ELL-associated factor 1 268 29 3 Nucleus speckle; Nucleus 0 0 2 1 5 2005-08-30 Q96JK2 DCAF5_HUMAN DCAF5 DDB1- and CUL4-associated factor 5 942 104 14 0 0 2 1 5 2004-05-24 Q96JQ0 PCD16_HUMAN DCHS1 Protocadherin-16 3298 346.2 11 Cell membrane 1 2 Van Maldergem syndrome 1; Mitral valve prolapse 2 2 1 5 2002-02-11 Q96KM6 Z512B_HUMAN ZNF512B Zinc finger protein 512B 892 97.3 20 Nucleus; Chromosome 0 0 2 1 5 2002-10-10 Q96N21 AP4AT_HUMAN TEPSIN AP-4 complex accessory subunit Tepsin 525 55.1 17 Golgi apparatus; Cytoplasmic vesicle; Cytoplasm 0 0 2 1 5 2007-05-15 Q96P16 RPR1A_HUMAN RPRD1A Regulation of nuclear pre-mRNA domain-containing protein 1A 312 35.7 18 Nucleus 0 0 2 1 5 2007-11-13 Q96PE7 MCEE_HUMAN MCEE Methylmalonyl-CoA epimerase, mitochondrial 176 18.7 2 5.1.99.1 Mitochondrion 0 1 Methylmalonyl-CoA epimerase deficiency 2 1 5 2004-07-19 Q96QV6 H2A1A_HUMAN H2AC1 Histone H2A type 1-A 131 14.2 6 Nucleus; Chromosome 0 0 2 1 5 2006-04-04 Q96T21 SEBP2_HUMAN SECISBP2 Selenocysteine insertion sequence-binding protein 2 854 95.5 9 Nucleus 0 1 Thyroid hormone metabolism, abnormal, 1 2 1 5 2002-01-31 Q99259 DCE1_HUMAN GAD1 Glutamate decarboxylase 1 594 66.9 2 4.1.1.15 0 1 Developmental and epileptic encephalopathy 89 2 1 5 1996-02-01 Q99543 DNJC2_HUMAN DNAJC2 DnaJ homolog subfamily C member 2 621 72 7 Nucleus; Cytoplasm 0 0 2 1 5 2001-01-11 Q99598 TSNAX_HUMAN TSNAX Translin-associated protein X 290 33.1 1 Cytoplasm; Golgi apparatus; Nucleus 0 0 2 1 5 1999-07-15 Q99758 ABCA3_HUMAN ABCA3 Phospholipid-transporting ATPase ABCA3 1704 191.4 16 7.6.2.1 Endosome; Cytoplasmic vesicle membrane; Late endosome membrane; Lysosome membrane 14 1 Pulmonary surfactant metabolism dysfunction 3 2 1 5 2000-05-30 Q99807 COQ7_HUMAN COQ7 NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial 217 24.3 16 1.14.13.253 Mitochondrion inner membrane; Mitochondrion; Nucleus; Chromosome 0 2 Coenzyme Q10 deficiency, primary, 8; Neuronopathy, distal hereditary motor, autosomal recessive 9 2 1 5 1997-11-01 Q9BSD3 RHNO1_HUMAN RHNO1 RAD9, HUS1, RAD1-interacting nuclear orphan protein 1 238 26.7 12 Nucleus; Chromosome 0 0 2 1 5 2006-12-12 Q9BTT0 AN32E_HUMAN ANP32E Acidic leucine-rich nuclear phosphoprotein 32 family member E 268 30.7 1 Cytoplasm; Nucleus 0 0 2 1 5 2003-05-09 Q9BU89 DOHH_HUMAN DOHH Deoxyhypusine hydroxylase 302 32.9 19 1.14.99.29 0 1 Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 2 1 5 2006-09-05 Q9BV57 MTND_HUMAN ADI1 Acireductone dioxygenase 179 21.5 2 Cytoplasm; Nucleus; Cell membrane 0 0 2 1 5 2005-10-11 Q9BVK6 TMED9_HUMAN TMED9 Transmembrane emp24 domain-containing protein 9 235 27.3 5 Endoplasmic reticulum membrane; Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane 1 0 2 1 5 2003-10-10 Q9BXV9 GON7_HUMAN GON7 EKC/KEOPS complex subunit GON7 100 10.9 14 Nucleus 0 1 Galloway-Mowat syndrome 9 2 1 5 2005-08-30 Q9C026 TRIM9_HUMAN TRIM9 E3 ubiquitin-protein ligase TRIM9 710 79.2 14 2.3.2.27 Cytoplasm; Cell projection; Cytoplasmic vesicle; Synapse 0 0 2 1 5 2003-08-04 Q9C035 TRIM5_HUMAN TRIM5 Tripartite motif-containing protein 5 493 56.3 11 2.3.2.27 Cytoplasm; Nucleus 0 0 2 1 5 2003-11-28 Q9H1C4 UN93B_HUMAN UNC93B1 Protein unc-93 homolog B1 597 66.6 11 Endoplasmic reticulum membrane; Endosome; Lysosome; Cytoplasmic vesicle 12 1 Encephalopathy, acute, infection-induced, 1, herpes-specific 2 1 5 2005-06-07 Q9H1I8 ASCC2_HUMAN ASCC2 Activating signal cointegrator 1 complex subunit 2 757 86.4 22 Nucleus; Nucleus speckle 0 0 2 1 5 2004-07-19 Q9H2X6 HIPK2_HUMAN HIPK2 Homeodomain-interacting protein kinase 2 1198 131 7 2.7.11.1 Nucleus; Cytoplasm 0 0 2 1 5 2001-04-27 Q9H3H3 CK068_HUMAN C11orf68 UPF0696 protein C11orf68 292 31.4 11 0 0 2 1 5 2006-03-21 Q9H3S4 TPK1_HUMAN TPK1 Thiamine pyrophosphokinase 1 243 27.3 7 2.7.6.- 0 1 Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type 2 1 5 2004-03-01 Q9H900 ZWILC_HUMAN ZWILCH Protein zwilch homolog 591 67.2 15 Chromosome 0 0 2 1 5 2008-01-15 Q9HB89 NMUR1_HUMAN NMUR1 Neuromedin-U receptor 1 426 47.4 2 Cell membrane 7 0 2 1 5 2005-12-06 Q9HBW0 LPAR2_HUMAN LPAR2 Lysophosphatidic acid receptor 2 348 38.7 19 Cell surface; Cell membrane 7 0 2 1 5 2002-12-06 Q9HC73 CRLF2_HUMAN CRLF2 Cytokine receptor-like factor 2 371 42 X Cell membrane 1 0 2 1 5 2003-11-07 Q9HCK8 CHD8_HUMAN CHD8 ATP-dependent chromatin remodeler CHD8 2581 290.5 14 3.6.4.- Nucleus 0 1 Intellectual developmental disorder with autism and macrocephaly 2 1 5 2002-09-19 Q9HD15 SRA1_HUMAN SRA1 Steroid receptor RNA activator 1 224 24.4 5 Nucleus; Cytoplasm 0 0 2 1 5 2006-05-16 Q9NP60 IRPL2_HUMAN IL1RAPL2 X-linked interleukin-1 receptor accessory protein-like 2 686 78.7 X 3.2.2.6 Membrane 1 0 2 1 5 2003-08-22 Q9NPF4 OSGEP_HUMAN OSGEP tRNA N6-adenosine threonylcarbamoyltransferase 335 36.4 14 2.3.1.234 Cytoplasm; Nucleus 0 1 Galloway-Mowat syndrome 3 2 1 5 2004-05-24 Q9NR83 S2A4R_HUMAN SLC2A4RG SLC2A4 regulator 387 41.3 20 Cytoplasm; Nucleus 0 0 2 1 5 2002-11-01 Q9NUS5 AP5S1_HUMAN AP5S1 AP-5 complex subunit sigma-1 200 22.5 20 Cytoplasm; Late endosome membrane; Lysosome membrane 0 0 2 1 5 2002-09-19 Q9NX04 AIRIM_HUMAN AIRIM AFG2-interacting ribosome maturation factor 203 23.4 1 Nucleus; Cytoplasm 0 0 2 1 5 2007-02-06 Q9NY46 SCN3A_HUMAN SCN3A Sodium channel protein type 3 subunit alpha 2000 226.3 2 Cell membrane; Basal cell membrane 24 2 Epilepsy, familial focal, with variable foci 4; Developmental and epileptic encephalopathy 62 2 1 5 2001-02-21 Q9NZI8 IF2B1_HUMAN IGF2BP1 Insulin-like growth factor 2 mRNA-binding protein 1 577 63.5 17 Nucleus; Cytoplasm; Cell projection 0 0 2 1 5 2007-04-03 Q9NZJ9 NUDT4_HUMAN NUDT4 Diphosphoinositol polyphosphate phosphohydrolase 2 180 20.3 1 3.6.1.52 Cytoplasm 0 0 2 1 5 2005-07-05 Q9P275 UBP36_HUMAN USP36 Ubiquitin carboxyl-terminal hydrolase 36 1123 122.9 17 2.3.2.-, 3.4.19.12 Nucleus; Cytoplasm 0 0 2 1 5 2003-10-10 Q9P2D7 DYH1_HUMAN DNAH1 Dynein axonemal heavy chain 1 4265 487.5 3 Cytoplasm; Cell projection 0 2 Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2 1 5 2008-02-26 Q9UBD9 CLCF1_HUMAN CLCF1 Cardiotrophin-like cytokine factor 1 225 25.2 11 Secreted 0 1 Crisponi/Cold-induced sweating syndrome 2 2 1 5 2004-12-07 Q9UGI0 ZRAN1_HUMAN ZRANB1 Ubiquitin thioesterase ZRANB1 708 81 10 3.4.19.12 Cytoplasm; Nucleus 0 0 2 1 5 2001-02-21 Q9UGI8 TES_HUMAN TES Testin 421 48 7 Cytoplasm; Cell junction 0 0 2 1 5 2001-09-26 Q9UHF0 TKNK_HUMAN TAC3 Tachykinin-3 121 13.4 12 Secreted 0 1 Hypogonadotropic hypogonadism 10 with or without anosmia 2 1 5 2001-09-26 Q9UJ37 SIA7B_HUMAN ST6GALNAC2 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 374 41.9 17 2.4.3.3 Golgi apparatus membrane 1 0 2 1 5 2002-07-11 Q9UK61 TASOR_HUMAN TASOR Protein TASOR 1670 189 3 Nucleus; Chromosome 0 0 2 1 5 2007-07-24 Q9UKV0 HDAC9_HUMAN HDAC9 Histone deacetylase 9 1011 111.3 7 3.5.1.98 Nucleus 0 1 Auriculocondylar syndrome 4 2 1 5 2000-12-01 Q9UL40 ZN346_HUMAN ZNF346 Zinc finger protein 346 294 32.9 5 Nucleus; Cytoplasm 0 0 2 1 5 2005-10-25 Q9ULI3 HEG1_HUMAN HEG1 Protein HEG homolog 1 1381 147.5 3 Cell membrane; Cell junction 1 0 2 1 5 2007-05-15 Q9ULW2 FZD10_HUMAN FZD10 Frizzled-10 581 65.3 12 Cell membrane 7 0 2 1 5 2001-12-05 Q9ULZ2 STAP1_HUMAN STAP1 Signal-transducing adaptor protein 1 295 34.3 4 Nucleus; Cytoplasm; Mitochondrion 0 0 2 1 5 2005-04-12 Q9UNI6 DUS12_HUMAN DUSP12 Dual specificity protein phosphatase 12 340 37.7 1 3.1.3.16, 3.1.3.48 Nucleus; Cytoplasm 0 0 2 1 5 2000-12-01 Q9UPQ7 PZRN3_HUMAN PDZRN3 E3 ubiquitin-protein ligase PDZRN3 1066 119.6 3 2.3.2.27 Synapse; Cytoplasm 0 0 2 1 5 2005-02-01 Q9UQL6 HDAC5_HUMAN HDAC5 Histone deacetylase 5 1122 122 17 3.5.1.98 Nucleus; Cytoplasm 0 0 2 1 5 2000-12-01 Q9Y2G1 MYRF_HUMAN MYRF Myelin regulatory factor 1151 124.4 11 3.4.-.- Endoplasmic reticulum membrane 1 3 Encephalitis/encephalopathy, mild, with reversible myelin vacuolization; Cardiac-urogenital syndrome; Nanophthalmos 1 2 1 5 2008-02-26 Q9Y2H9 MAST1_HUMAN MAST1 Microtubule-associated serine/threonine-protein kinase 1 1570 170.7 19 2.7.11.1 Cell membrane; Cytoplasm; Cell projection 0 1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 2 1 5 2005-03-01 Q9Y320 TMX2_HUMAN TMX2 Thioredoxin-related transmembrane protein 2 296 34 11 Endoplasmic reticulum membrane; Mitochondrion membrane 1 1 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 2 1 5 2008-01-15 Q9Y3L3 3BP1_HUMAN SH3BP1 SH3 domain-binding protein 1 701 75.7 22 Cell projection; Cell junction; Nucleus; Cytoplasm 0 0 2 1 5 2002-01-23 Q9Y4D1 DAAM1_HUMAN DAAM1 Disheveled-associated activator of morphogenesis 1 1078 123.5 14 Cytoplasm 0 0 2 1 5 2003-08-15 Q9Y4P9 SPEF1_HUMAN SPEF1 Sperm flagella and cilia-associated protein 1 236 27 20 Cytoplasm; Cell projection; Apical cell membrane; Basolateral cell membrane 0 0 2 1 5 2002-09-19 Q9Y679 AUP1_HUMAN AUP1 Lipid droplet-regulating VLDL assembly factor AUP1 410 45.8 2 Endoplasmic reticulum membrane; Lipid droplet 0 0 2 1 5 2000-12-01 Q9Y6A4 CFA20_HUMAN CFAP20 Cilia- and flagella-associated protein 20 193 22.8 16 Nucleus; Cytoplasm 0 0 2 1 5 2007-07-24 Q9Y6G1 TM14A_HUMAN TMEM14A Transmembrane protein 14A 99 10.7 6 Mitochondrion membrane; Endoplasmic reticulum membrane 3 0 2 1 5 2000-12-01 Q9Y6I3 EPN1_HUMAN EPN1 Epsin-1 576 60.3 19 Cytoplasm; Cell membrane; Nucleus; Membrane 0 0 2 1 5 2004-01-16 O00151 PDLI1_HUMAN PDLIM1 PDZ and LIM domain protein 1 329 36.1 10 Cytoplasm 0 0 2 1 5 2000-05-30 O00212 RHOD_HUMAN RHOD Rho-related GTP-binding protein RhoD 210 23.5 11 3.6.5.2 Cell membrane; Early endosome 0 0 2 1 5 1998-07-15 O00483 CXFA4_HUMAN COXFA4 Cytochrome c oxidase subunit FA4 81 9.4 7 Mitochondrion inner membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 21 2 1 5 1997-11-01 O14521 DHSD_HUMAN SDHD Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial 159 17 11 Mitochondrion inner membrane 3 3 Pheochromocytoma/paraganglioma syndrome 1; Paraganglioma and gastric stromal sarcoma; Mitochondrial complex II deficiency, nuclear type 3 2 1 5 1998-12-15 O14815 CAN9_HUMAN CAPN9 Calpain-9 690 79.1 1 3.4.22.- 0 0 2 1 5 2003-06-16 O14836 TR13B_HUMAN TNFRSF13B Tumor necrosis factor receptor superfamily member 13B 293 31.8 17 Membrane 1 2 Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 2 1 5 2002-05-27 O14924 RGS12_HUMAN RGS12 Regulator of G protein signaling 12 1447 156.4 4 Nucleus; Cytoplasm; Cell projection; Synapse 0 0 2 1 5 1998-12-15 O15273 TELT_HUMAN TCAP Telethonin 167 19.1 17 Cytoplasm 0 2 Cardiomyopathy, familial hypertrophic, 25; Muscular dystrophy, limb-girdle, autosomal recessive 7 2 1 5 1998-07-15 O15347 HMGB3_HUMAN HMGB3 High mobility group protein B3 200 23 X Nucleus; Chromosome; Cytoplasm 0 1 Microphthalmia, syndromic, 13 2 1 5 2002-03-27 O15353 FOXN1_HUMAN FOXN1 Forkhead box protein N1 648 68.9 17 Nucleus 0 3 T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant; T-cell immunodeficiency with thymic aplasia 2 1 5 2001-02-21 O43300 LRRT2_HUMAN LRRTM2 Leucine-rich repeat transmembrane neuronal protein 2 516 59.1 5 Cell membrane; Postsynaptic cell membrane 1 0 2 1 5 2004-07-19 O43572 AKA10_HUMAN AKAP10 A-kinase anchor protein 10, mitochondrial 662 73.8 17 Mitochondrion; Membrane; Cytoplasm 0 0 2 1 5 2001-02-21 O43708 MAAI_HUMAN GSTZ1 Maleylacetoacetate isomerase 216 24.2 14 5.2.1.2 Cytoplasm 0 1 Maleylacetoacetate isomerase deficiency 2 1 5 1998-12-15 O60353 FZD6_HUMAN FZD6 Frizzled-6 706 79.3 8 Membrane; Cell membrane; Cell surface; Apical cell membrane; Cytoplasmic vesicle membrane; Endoplasmic reticulum membrane 7 1 Nail disorder, non-syndromic congenital, 1 2 1 5 2001-12-05 O60609 GFRA3_HUMAN GFRA3 GDNF family receptor alpha-3 400 44.5 5 Cell membrane 0 0 2 1 5 2001-01-11 O60716 CTND1_HUMAN CTNND1 Catenin delta-1 968 108.2 11 Cell junction; Cytoplasm; Nucleus; Cell membrane 0 1 Blepharocheilodontic syndrome 2 2 1 5 2001-07-11 O60779 S19A2_HUMAN SLC19A2 Thiamine transporter 1 497 55.4 1 Cell membrane 12 1 Thiamine-responsive megaloblastic anemia syndrome 2 1 5 1999-07-15 O75083 WDR1_HUMAN WDR1 WD repeat-containing protein 1 606 66.2 4 Cytoplasm; Cell projection; Cell junction 0 1 Periodic fever, immunodeficiency, and thrombocytopenia syndrome 2 1 5 2001-01-11 O75420 GGYF1_HUMAN GIGYF1 GRB10-interacting GYF protein 1 1035 114.6 7 0 0 2 1 5 2002-09-19 O75616 ERAL1_HUMAN ERAL1 GTPase Era, mitochondrial 437 48.4 17 Mitochondrion matrix; Mitochondrion inner membrane 0 1 Perrault syndrome 6 2 1 5 1999-07-15 O75800 ZMY10_HUMAN ZMYND10 Zinc finger MYND domain-containing protein 10 440 50.3 3 Cytoplasm; Apical cell membrane; Dynein axonemal particle 0 1 Ciliary dyskinesia, primary, 22 2 1 5 2002-11-08 O75908 SOAT2_HUMAN SOAT2 Sterol O-acyltransferase 2 522 59.9 12 2.3.1.26 Endoplasmic reticulum membrane 9 0 2 1 5 2001-10-18 O75943 RAD17_HUMAN RAD17 Cell cycle checkpoint protein RAD17 681 77.1 5 Nucleus; Chromosome 0 0 2 1 5 2005-03-29 O95257 GA45G_HUMAN GADD45G Growth arrest and DNA damage-inducible protein GADD45 gamma 159 17.1 9 0 0 2 1 5 2000-05-30 O95292 VAPB_HUMAN VAPB Vesicle-associated membrane protein-associated protein B/C 243 27.2 20 Endoplasmic reticulum membrane 1 2 Amyotrophic lateral sclerosis 8; Spinal muscular atrophy, proximal, adult, autosomal dominant 2 1 5 2002-11-01 O95372 LYPA2_HUMAN LYPLA2 Acyl-protein thioesterase 2 231 24.7 1 3.1.2.- Cytoplasm 0 0 2 1 5 2004-01-16 O95721 SNP29_HUMAN SNAP29 Synaptosomal-associated protein 29 258 29 22 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle; Cell projection 0 1 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 2 1 5 2000-05-30 O95825 QORL1_HUMAN CRYZL1 Ferry endosomal RAB5 effector complex subunit 4 349 38.7 21 Early endosome 0 0 2 1 5 2000-05-30 O95997 PTTG1_HUMAN PTTG1 Securin 202 22 5 Cytoplasm; Nucleus 0 0 2 1 5 2003-03-25 P01880 IGHD_HUMAN IGHD Immunoglobulin heavy constant delta 430 47.5 14 Secreted 1 0 2 1 5 1986-07-21 P02750 A2GL_HUMAN LRG1 Leucine-rich alpha-2-glycoprotein 347 38.2 19 Secreted 0 0 2 1 5 1986-07-21 P04054 PA21B_HUMAN PLA2G1B Phospholipase A2 148 16.4 12 3.1.1.4 Secreted 0 0 2 1 5 1986-11-01 P05160 F13B_HUMAN F13B Coagulation factor XIII B chain 661 75.5 1 Secreted 0 1 Factor XIII subunit B deficiency 2 1 5 1987-08-13 P07093 GDN_HUMAN SERPINE2 Glia-derived nexin 398 44 2 Secreted 0 0 2 1 5 1988-04-01 P08651 NFIC_HUMAN NFIC Nuclear factor 1 C-type 508 55.7 19 Nucleus 0 0 2 1 5 1988-08-01 P08686 CP21A_HUMAN CYP21A2 Steroid 21-hydroxylase 495 56 6 1.14.14.16 Endoplasmic reticulum membrane; Microsome membrane 0 1 Adrenal hyperplasia 3 2 1 5 1986-11-01 P12757 SKIL_HUMAN SKIL Ski-like protein 684 77 3 0 0 2 1 5 1989-10-01 P13232 IL7_HUMAN IL7 Interleukin-7 177 20.2 8 Secreted 0 1 Immunodeficiency 130 with HPV-related verrucosis 2 1 5 1990-01-01 P14410 SUIS_HUMAN SI Sucrase-isomaltase, intestinal 1827 209.5 3 Apical cell membrane 1 1 Congenital sucrase-isomaltase deficiency 2 1 5 1990-01-01 P16422 EPCAM_HUMAN EPCAM Epithelial cell adhesion molecule 314 34.9 2 Lateral cell membrane; Cell junction 1 2 Diarrhea 5, with tufting enteropathy, congenital; Lynch syndrome 8 2 1 5 1990-08-01 P16444 DPEP1_HUMAN DPEP1 Dipeptidase 1 411 45.7 16 3.4.13.19 Apical cell membrane; Cell projection 0 0 2 1 5 1990-08-01 P17028 ZNF24_HUMAN ZNF24 Zinc finger protein 24 368 42.2 18 Nucleus 0 0 2 1 5 1990-08-01 P17542 TAL1_HUMAN TAL1 T-cell acute lymphocytic leukemia protein 1 331 34.3 1 Nucleus 0 0 2 1 5 1990-08-01 P19087 GNAT2_HUMAN GNAT2 Guanine nucleotide-binding protein G(t) subunit alpha-2 354 40.2 1 3.6.5.- Cell projection; Photoreceptor inner segment 0 1 Achromatopsia 4 2 1 5 1990-11-01 P20155 ISK2_HUMAN SPINK2 Serine protease inhibitor Kazal-type 2 84 9.3 4 Secreted; Cytoplasmic vesicle 0 1 Spermatogenic failure 29 2 1 5 1991-02-01 P20933 ASPG_HUMAN AGA N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase 346 37.2 4 3.5.1.26 Lysosome 0 1 Aspartylglucosaminuria 2 1 5 1991-02-01 P23229 ITA6_HUMAN ITGA6 Integrin alpha-6 1130 126.6 2 Cell membrane 1 1 Epidermolysis bullosa, junctional 6, with pyloric atresia 2 1 5 1991-11-01 P23743 DGKA_HUMAN DGKA Diacylglycerol kinase alpha 735 82.6 12 2.7.1.107, 2.7.1.93 Cytoplasm 0 0 2 1 5 1991-11-01 P24534 EF1B_HUMAN EEF1B2 Elongation factor 1-beta 225 24.8 2 0 0 2 1 5 1992-03-01 P26927 HGFL_HUMAN MST1 Hepatocyte growth factor-like protein 711 80.3 Secreted 0 0 2 1 5 1992-08-01 P30085 KCY_HUMAN CMPK1 UMP-CMP kinase 196 22.2 1 2.7.4.14 Nucleus; Cytoplasm 0 0 2 1 5 1993-04-01 P30511 HLAF_HUMAN HLA-F HLA class I histocompatibility antigen, alpha chain F 346 39.1 6 Cell membrane; Early endosome membrane; Lysosome membrane 1 0 2 1 5 1993-04-01 P31274 HXC9_HUMAN HOXC9 Homeobox protein Hox-C9 260 29.2 12 Nucleus 0 0 2 1 5 1993-07-01 P31937 3HIDH_HUMAN HIBADH 3-hydroxyisobutyrate dehydrogenase, mitochondrial 336 35.3 7 1.1.1.31 Mitochondrion 0 0 2 1 5 1993-07-01 P31995 FCG2C_HUMAN FCGR2C Low affinity immunoglobulin gamma Fc region receptor II-c 323 35.6 Cytoplasm 1 0 2 1 5 1993-07-01 P32004 L1CAM_HUMAN L1CAM Neural cell adhesion molecule L1 1257 140 X Cell membrane; Cell projection 1 3 Hydrocephalus, congenital, X-linked; MASA syndrome; Agenesis of the corpus callosum, X-linked, partial 2 1 5 1993-07-01 P34059 GALNS_HUMAN GALNS N-acetylgalactosamine-6-sulfatase 522 58 16 3.1.6.4 Lysosome 0 1 Mucopolysaccharidosis 4A 2 1 5 1994-02-01 P35442 TSP2_HUMAN THBS2 Thrombospondin-2 1172 130 6 0 2 Intervertebral disc disease; Ehlers-Danlos syndrome, classic-like, 3 2 1 5 1994-06-01 P36507 MP2K2_HUMAN MAP2K2 Dual specificity mitogen-activated protein kinase kinase 2 400 44.4 19 2.7.12.2 Cytoplasm; Membrane 0 1 Cardiofaciocutaneous syndrome 4 2 1 5 1994-06-01 P38159 RBMX_HUMAN RBMX RNA-binding motif protein, X chromosome 391 42.3 X Nucleus 0 2 Intellectual developmental disorder, X-linked, syndromic, Shashi type; Intellectual developmental disorder, X-linked, syndromic, Gustavson type 2 1 5 1994-10-01 P41161 ETV5_HUMAN ETV5 ETS translocation variant 5 510 57.8 3 Nucleus 0 0 2 1 5 1995-02-01 P43155 CACP_HUMAN CRAT Carnitine O-acetyltransferase 626 70.9 9 2.3.1.137, 2.3.1.7 Endoplasmic reticulum; Peroxisome; Mitochondrion inner membrane 0 1 Neurodegeneration with brain iron accumulation 8 2 1 5 1995-11-01 P49674 KC1E_HUMAN CSNK1E Casein kinase I isoform epsilon 416 47.3 22 2.7.11.1 Cytoplasm; Nucleus 0 0 2 1 5 1996-02-01 P49757 NUMB_HUMAN NUMB Protein numb homolog 651 70.8 14 Cell membrane; Endosome membrane 0 0 2 1 5 1996-10-01 P49840 GSK3A_HUMAN GSK3A Glycogen synthase kinase-3 alpha 483 51 19 2.7.11.26 0 0 2 1 5 1996-10-01 P50995 ANX11_HUMAN ANXA11 Annexin A11 505 54.4 10 Cytoplasm; Melanosome; Nucleus envelope; Nucleus 0 2 Amyotrophic lateral sclerosis 23; Inclusion body myopathy and brain white matter abnormalities 2 1 5 1996-10-01 P51151 RAB9A_HUMAN RAB9A Ras-related protein Rab-9A 201 22.8 X 3.6.5.2 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Late endosome; Cytoplasmic vesicle; Cytoplasmic vesicle membrane; Melanosome 0 0 2 1 5 1996-10-01 P51688 SPHM_HUMAN SGSH N-sulphoglucosamine sulphohydrolase 502 56.7 17 3.10.1.1 Lysosome 0 1 Mucopolysaccharidosis 3A 2 1 5 1996-10-01 P51692 STA5B_HUMAN STAT5B Signal transducer and activator of transcription 5B 787 89.9 17 Cytoplasm; Nucleus 0 2 Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 2 1 5 1996-10-01 P52306 GDS1_HUMAN RAP1GDS1 Rap1 GTPase-GDP dissociation stimulator 1 607 66.3 4 Cytoplasm; Endoplasmic reticulum; Mitochondrion; Nucleus 0 1 Alfadhel syndrome 2 1 5 1996-10-01 P52758 RIDA_HUMAN RIDA 2-iminobutanoate/2-iminopropanoate deaminase 137 14.5 8 3.5.99.10 Cytoplasm; Nucleus; Peroxisome; Mitochondrion 0 0 2 1 5 1996-10-01 P53420 CO4A4_HUMAN COL4A4 Collagen alpha-4(IV) chain 1690 164 2 Secreted 0 2 Alport syndrome 2, autosomal recessive; Hematuria, benign familial, 1 2 1 5 1996-10-01 P55008 AIF1_HUMAN AIF1 Allograft inflammatory factor 1 147 16.7 6 Cytoplasm; Cell projection 0 0 2 1 5 1996-10-01 P55083 MFAP4_HUMAN MFAP4 Microfibril-associated glycoprotein 4 255 28.6 17 Secreted 0 0 2 1 5 1996-10-01 P61923 COPZ1_HUMAN COPZ1 Coatomer subunit zeta-1 177 20.2 12 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle 0 1 Neutropenia, severe congenital, 12, autosomal recessive 2 1 5 2004-06-07 P62072 TIM10_HUMAN TIMM10 Mitochondrial import inner membrane translocase subunit Tim10 90 10.3 11 Mitochondrion inner membrane 0 0 2 1 5 2004-06-21 P62253 UB2G1_HUMAN UBE2G1 Ubiquitin-conjugating enzyme E2 G1 170 19.5 17 2.3.2.23 0 0 2 1 5 2004-07-05 P78314 3BP2_HUMAN SH3BP2 SH3 domain-binding protein 2 561 62.2 4 0 1 Cherubism 2 1 5 1998-07-15 P78346 RPP30_HUMAN RPP30 Ribonuclease P protein subunit p30 268 29.3 10 Nucleus 0 0 2 1 5 2001-02-21 P98177 FOXO4_HUMAN FOXO4 Forkhead box protein O4 505 53.7 X Cytoplasm; Nucleus 0 0 2 1 5 1996-10-01 Q01955 CO4A3_HUMAN COL4A3 Collagen alpha-3(IV) chain 1670 161.8 2 Secreted 0 3 Hematuria, benign familial, 2; Alport syndrome 3A, autosomal dominant; Alport syndrome 3B, autosomal recessive 2 1 5 1996-10-01 Q03001 DYST_HUMAN DST Dystonin 7570 860.7 6 Cytoplasm; Cell projection 0 4 Neuropathy, hereditary sensory and autonomic, 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency; Congenital myopathy 29 with contractures; Lethal congenital contracture syndrome 12 2 1 5 1996-10-01 Q05996 ZP2_HUMAN ZP2 Zona pellucida sperm-binding protein 2 745 82.4 16 Cell membrane 1 1 Oocyte/zygote/embryo maturation arrest 6 2 1 5 1994-02-01 Q08380 LG3BP_HUMAN LGALS3BP Galectin-3-binding protein 585 65.3 17 Secreted 0 0 2 1 5 2004-05-10 Q12968 NFAC3_HUMAN NFATC3 Nuclear factor of activated T-cells, cytoplasmic 3 1075 115.6 16 Cytoplasm; Nucleus 0 0 2 1 5 2000-12-01 Q13018 PLA2R_HUMAN PLA2R1 Secretory phospholipase A2 receptor 1463 168.6 2 Cell membrane 1 0 2 1 5 2007-11-13 Q13322 GRB10_HUMAN GRB10 Growth factor receptor-bound protein 10 594 67.2 7 Cytoplasm 0 0 2 1 5 1999-07-15 Q13510 ASAH1_HUMAN ASAH1 Acid ceramidase 395 44.7 8 3.5.1.23 Lysosome; Secreted 0 2 Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy 2 1 5 1998-07-15 Q14162 SREC_HUMAN SCARF1 Scavenger receptor class F member 1 830 87.4 17 Membrane 1 0 2 1 5 2002-01-23 Q14749 GNMT_HUMAN GNMT Glycine N-methyltransferase 295 32.7 6 2.1.1.20 Cytoplasm 0 1 Glycine N-methyltransferase deficiency 2 1 5 1998-07-15 Q14807 KIF22_HUMAN KIF22 Kinesin-like protein KIF22 665 73.3 16 Nucleus; Cytoplasm 0 1 Spondyloepimetaphyseal dysplasia with joint laxity, 2 2 1 5 2000-12-01 Q15013 MD2BP_HUMAN MAD2L1BP MAD2L1-binding protein 274 31.1 6 Nucleus; Cytoplasm 0 0 2 1 5 1998-07-15 Q15700 DLG2_HUMAN DLG2 Disks large homolog 2 870 97.6 11 Cell membrane; Postsynaptic density; Synapse; Membrane; Cell projection; Perikaryon 0 0 2 1 5 1997-11-01 Q15722 LT4R1_HUMAN LTB4R Leukotriene B4 receptor 1 352 37.6 14 Cell membrane 7 0 2 1 5 1997-11-01 Q16643 DREB_HUMAN DBN1 Drebrin 649 71.4 5 Cytoplasm; Cell projection; Cell junction 0 1 Alzheimer disease 2 1 5 1997-11-01 Q16661 GUC2B_HUMAN GUCA2B Guanylate cyclase activator 2B 112 12.1 1 Secreted 0 0 2 1 5 1997-11-01 Q5H9F3 BCORL_HUMAN BCORL1 BCL-6 corepressor-like protein 1 1785 190.6 X Nucleus 0 1 Shukla-Vernon syndrome 2 1 5 2007-12-04 Q5SRE7 PHYD1_HUMAN PHYHD1 Phytanoyl-CoA dioxygenase domain-containing protein 1 291 32.4 9 1.14.11.- 0 0 2 1 5 2008-01-15 Q5T1C6 THEM4_HUMAN THEM4 Acyl-coenzyme A thioesterase THEM4 240 27.1 1 3.1.2.2 Cell membrane; Cell projection; Cytoplasm; Mitochondrion; Mitochondrion inner membrane; Mitochondrion intermembrane space 0 0 2 1 5 2008-01-15 Q5T5A4 CF276_HUMAN CFAP276 Cilia- and flagella-associated protein 276 169 19.4 1 Cytoplasm 0 0 2 1 5 2007-09-11 Q5T5X7 BEND3_HUMAN BEND3 BEN domain-containing protein 3 828 94.5 6 Nucleus 0 0 2 1 5 2007-06-12 Q5T6V5 QNG1_HUMAN QNG1 Queuosine 5'-phosphate N-glycosylase/hydrolase 341 39 9 3.2.2.- 0 0 2 1 5 2005-08-16 Q5T890 ER6L2_HUMAN ERCC6L2 DNA excision repair protein ERCC-6-like 2 1561 177.1 9 3.6.4.- Nucleus; Cytoplasm; Mitochondrion; Chromosome 0 1 Bone marrow failure syndrome 2 2 1 5 2008-03-18 Q5TZA2 CROCC_HUMAN CROCC Rootletin 2017 228.4 1 Cytoplasm 0 0 2 1 5 2006-06-13 Q5U651 RAIN_HUMAN RASIP1 Ras-interacting protein 1 963 103.5 19 Cytoplasm; Golgi apparatus 0 0 2 1 5 2005-11-08 Q6EIG7 CLC6A_HUMAN CLEC6A C-type lectin domain family 6 member A 209 24 12 Cell membrane 1 0 2 1 5 2005-02-15 Q6NT76 HMBX1_HUMAN HMBOX1 Homeobox-containing protein 1 420 47.3 8 Nucleus; Cytoplasm; Chromosome 0 0 2 1 5 2006-05-02 Q6P1N9 TATD1_HUMAN TATDN1 Deoxyribonuclease TATDN1 297 33.6 8 3.1.11.-, 3.1.21.- Nucleus 0 0 2 1 5 2008-01-15 Q6P2H3 CEP85_HUMAN CEP85 Centrosomal protein of 85 kDa 762 85.6 1 Cytoplasm; Nucleus 0 0 2 1 5 2006-05-02 Q6YHU6 THADA_HUMAN THADA tRNA (32-2'-O)-methyltransferase regulator THADA 1953 219.6 2 0 0 2 1 5 2008-07-22 Q6ZT98 TTLL7_HUMAN TTLL7 Tubulin polyglutamylase TTLL7 887 103 1 6.3.2.- Cell projection; Cytoplasm; Perikaryon 0 0 2 1 5 2005-08-30 Q70E73 RAPH1_HUMAN RAPH1 Ras-associated and pleckstrin homology domains-containing protein 1 1250 135.3 2 Cell membrane; Cell projection; Cytoplasm 0 0 2 1 5 2005-11-22 Q70JA7 CHSS3_HUMAN CHSY3 Chondroitin sulfate synthase 3 882 100.3 5 2.4.1.175, 2.4.1.226 Golgi apparatus 1 0 2 1 5 2005-02-01 Q76MJ5 ERN2_HUMAN ERN2 Serine/threonine-protein kinase/endoribonuclease IRE2 926 102.5 16 Endoplasmic reticulum membrane 1 0 2 1 5 2004-08-16 Q7Z406 MYH14_HUMAN MYH14 Myosin-14 1995 227.9 19 0 2 Deafness, autosomal dominant, 4A; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 2 1 5 2005-07-19 Q7Z5G4 GOGA7_HUMAN GOLGA7 Golgin subfamily A member 7 137 15.8 8 Golgi apparatus membrane 0 0 2 1 5 2005-11-22 Q7Z5R6 AB1IP_HUMAN APBB1IP Amyloid beta A4 precursor protein-binding family B member 1-interacting protein 666 73.2 10 Cell membrane; Cell projection; Cell junction; Cytoplasm 0 0 2 1 5 2005-11-22 Q7Z698 SPRE2_HUMAN SPRED2 Sprouty-related, EVH1 domain-containing protein 2 418 47.6 2 Cell membrane; Cytoplasmic vesicle; Cytoplasm 0 1 Noonan syndrome 14 2 1 5 2005-01-04 Q7Z6K5 ARPIN_HUMAN ARPIN Arpin 226 24.9 15 Cell projection 0 0 2 1 5 2006-06-27 Q86SX6 GLRX5_HUMAN GLRX5 Glutaredoxin-related protein 5, mitochondrial 157 16.6 14 Mitochondrion matrix 0 2 Anemia, sideroblastic, 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia 2 1 5 2005-02-01 Q86UE8 TLK2_HUMAN TLK2 Serine/threonine-protein kinase tousled-like 2 772 87.7 17 2.7.11.1 Nucleus; Cytoplasm 0 1 Intellectual developmental disorder, autosomal dominant 57 2 1 5 2003-08-22 Q86XE5 HOGA1_HUMAN HOGA1 4-hydroxy-2-oxoglutarate aldolase, mitochondrial 327 35.2 10 4.1.3.16 Mitochondrion 0 1 Hyperoxaluria primary 3 2 1 5 2007-01-23 Q86YV5 PRAG1_HUMAN PRAG1 Inactive tyrosine-protein kinase PRAG1 1406 149.6 8 Cytoplasm; Cell junction; Nucleus 0 0 2 1 5 2006-11-28 Q8IV77 CNGA4_HUMAN CNGA4 Cyclic nucleotide-gated channel alpha-4 575 66 11 Cell projection 7 0 2 1 5 2008-02-05 Q8IX15 HOMEZ_HUMAN HOMEZ Homeobox and leucine zipper protein Homez 550 61.2 14 Nucleus 0 0 2 1 5 2004-01-16 Q8IXW5 RPAP2_HUMAN RPAP2 Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2 612 69.5 1 3.1.3.16 Cytoplasm; Nucleus 0 0 2 1 5 2006-10-03 Q8IZ41 RASEF_HUMAN RASEF Ras and EF-hand domain-containing protein 740 82.9 9 3.6.5.2 Cytoplasm; Golgi apparatus; Early endosome; Late endosome; Lysosome 0 0 2 1 5 2007-09-11 Q8IZ52 CHSS2_HUMAN CHPF Chondroitin polymerizing factor, non-catalytic subunit 775 85.5 2 Golgi apparatus; Cytoplasm 1 0 2 1 5 2005-02-01 Q8N543 OGFD1_HUMAN OGFOD1 Prolyl 3-hydroxylase OGFOD1 542 63.2 16 1.14.11.- Cytoplasm; Nucleus 0 0 2 1 5 2007-05-29 Q8N5S9 KKCC1_HUMAN CAMKK1 Calcium/calmodulin-dependent protein kinase kinase 1 505 55.7 17 2.7.11.17 Cytoplasm; Nucleus 0 0 2 1 5 2004-12-07 Q8N807 PDILT_HUMAN PDILT Protein disulfide-isomerase-like protein of the testis 584 66.7 16 Endoplasmic reticulum 0 0 2 1 5 2008-03-18 Q8NAP3 ZBT38_HUMAN ZBTB38 Zinc finger and BTB domain-containing protein 38 1195 134.3 3 Nucleus; Chromosome 0 0 2 1 5 2005-07-05 Q8NB90 AFG2A_HUMAN AFG2A ATPase family gene 2 protein homolog A 893 97.9 4 3.6.4.10 Cytoplasm; Mitochondrion 0 1 Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 2 1 5 2008-04-29 Q8NDX5 PHC3_HUMAN PHC3 Polyhomeotic-like protein 3 983 106.2 3 Nucleus 0 0 2 1 5 2005-12-20 Q8TC29 ENKUR_HUMAN ENKUR Enkurin 256 29.5 10 Cytoplasm 0 0 2 1 5 2005-07-19 Q8TCT8 SPP2A_HUMAN SPPL2A Signal peptide peptidase-like 2A 520 58.1 15 3.4.23.- Late endosome membrane; Lysosome membrane; Membrane 9 1 Immunodeficiency 86 2 1 5 2002-11-08 Q8TE54 S26A7_HUMAN SLC26A7 Anion exchange transporter 656 72.2 8 Cell membrane; Basolateral cell membrane; Recycling endosome membrane; Apical cell membrane; Lateral cell membrane 11 0 2 1 5 2008-02-26 Q8TED1 GPX8_HUMAN GPX8 Protein peroxidase GPX8 209 23.9 5 5.3.4.1 Endoplasmic reticulum membrane 1 0 2 1 5 2008-02-05 Q8TEU7 RPGF6_HUMAN RAPGEF6 Rap guanine nucleotide exchange factor 6 1601 179.4 5 Cytoplasm; Cell membrane 0 0 2 1 5 2003-08-29 Q8TF71 MOT10_HUMAN SLC16A10 Monocarboxylate transporter 10 515 55.5 6 Cell membrane; Basolateral cell membrane 12 0 2 1 5 2008-01-15 Q8WU10 PYRD1_HUMAN PYROXD1 tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1 500 55.8 12 1.6.99.1 Nucleus; Cytoplasm 0 1 Myopathy, myofibrillar, 8 2 1 5 2008-04-08 Q8WUB8 PHF10_HUMAN PHF10 PHD finger protein 10 498 56.1 6 Nucleus 0 0 2 1 5 2005-04-26 Q8WWI5 CTL1_HUMAN SLC44A1 Choline transporter-like protein 1 657 73.3 9 Cell membrane; Mitochondrion outer membrane 9 1 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 2 1 5 2005-08-30 Q8WZA9 IRGQ_HUMAN IRGQ Immunity-related GTPase family Q protein 623 62.7 19 Lysosome; Cytoplasmic vesicle 0 0 2 1 5 2006-12-12 Q92622 RUBIC_HUMAN RUBCN Run domain Beclin-1-interacting and cysteine-rich domain-containing protein 972 108.6 3 Late endosome; Lysosome; Early endosome 0 1 Spinocerebellar ataxia, autosomal recessive, 15 2 1 5 1997-11-01 Q92729 PTPRU_HUMAN PTPRU Receptor-type tyrosine-protein phosphatase U 1446 162.4 1 3.1.3.48 Cell junction; Cell membrane 1 0 2 1 5 1997-11-01 Q92989 CLP1_HUMAN CLP1 Polyribonucleotide 5'-hydroxyl-kinase Clp1 425 47.6 11 2.7.1.78 Nucleus 0 1 Pontocerebellar hypoplasia 10 2 1 5 2001-04-27 Q969V4 TEKT1_HUMAN TEKT1 Tektin-1 418 48.3 17 Cytoplasm 0 0 2 1 5 2002-11-08 Q96B01 R51A1_HUMAN RAD51AP1 RAD51-associated protein 1 352 38.5 12 Chromosome; Nucleus 0 0 2 1 5 2005-07-05 Q96CX2 KCD12_HUMAN KCTD12 BTB/POZ domain-containing protein KCTD12 325 35.7 13 Presynaptic cell membrane; Postsynaptic cell membrane 0 0 2 1 5 2004-07-19 Q96DR4 STAR4_HUMAN STARD4 StAR-related lipid transfer protein 4 205 23.5 5 Cytoplasm; Endoplasmic reticulum 0 0 2 1 5 2002-11-15 Q96EL1 INKA1_HUMAN INKA1 PAK4-inhibitor INKA1 287 31.6 Nucleus; Cytoplasm 0 0 2 1 5 2006-06-13 Q96EP5 DAZP1_HUMAN DAZAP1 DAZ-associated protein 1 407 43.4 19 Cytoplasm; Nucleus 0 0 2 1 5 2004-03-01 Q96GX5 GWL_HUMAN MASTL Serine/threonine-protein kinase greatwall 879 97.3 10 2.7.11.1 Cytoplasm; Nucleus; Cleavage furrow 0 0 2 1 5 2005-07-05 Q96H20 SNF8_HUMAN SNF8 Vacuolar-sorting protein SNF8 258 28.9 17 Cytoplasm; Endosome membrane; Nucleus; Late endosome membrane 0 2 Developmental and epileptic encephalopathy 115; Neurodevelopmental disorder plus optic atrophy 2 1 5 2005-08-30 Q96HE7 ERO1A_HUMAN ERO1A ERO1-like protein alpha 468 54.4 14 1.8.3.2 Endoplasmic reticulum membrane; Golgi apparatus lumen; Secreted; Cell projection 0 0 2 1 5 2004-07-19 Q96IP4 TET5A_HUMAN TENT5A Terminal nucleotidyltransferase 5A 442 49.7 6 2.7.7.19 Cytoplasm 0 1 Osteogenesis imperfecta 18 2 1 5 2006-11-28 Q96JA1 LRIG1_HUMAN LRIG1 Leucine-rich repeats and immunoglobulin-like domains protein 1 1093 119.1 3 Cell membrane 1 0 2 1 5 2004-10-11 Q96JH8 RADIL_HUMAN RADIL Ras-associating and dilute domain-containing protein 1075 117.5 7 0 0 2 1 5 2005-11-08 Q96JY6 PDLI2_HUMAN PDLIM2 PDZ and LIM domain protein 2 352 37.5 8 Cytoplasm; Nucleus 0 0 2 1 5 2005-06-07 Q96LT9 RNPC3_HUMAN RNPC3 RNA-binding region-containing protein 3 517 58.6 1 Nucleus 0 1 Pituitary hormone deficiency, combined or isolated, 7 2 1 5 2007-11-13 Q96MG8 PCMD1_HUMAN PCMTD1 Protein-L-isoaspartate O-methyltransferase domain-containing protein 1 357 40.7 8 Cytoplasm; Membrane 0 0 2 1 5 2003-10-10 Q96N67 DOCK7_HUMAN DOCK7 Dedicator of cytokinesis protein 7 2140 242.6 1 Cell projection 0 1 Developmental and epileptic encephalopathy 23 2 1 5 2003-07-03 Q96P09 BIRC8_HUMAN BIRC8 Baculoviral IAP repeat-containing protein 8 236 27.1 Cytoplasm 0 0 2 1 5 2002-07-11 Q96SI1 KCD15_HUMAN KCTD15 BTB/POZ domain-containing protein KCTD15 283 31.9 19 Nucleus 0 0 2 1 5 2006-07-25 Q96T60 PNKP_HUMAN PNKP Bifunctional polynucleotide phosphatase/kinase 521 57.1 19 Nucleus; Chromosome 0 2 Microcephaly, seizures, and developmental delay; Ataxia-oculomotor apraxia 4 2 1 5 2004-07-19 Q96T68 SETB2_HUMAN SETDB2 Histone-lysine N-methyltransferase SETDB2 719 81.9 13 2.1.1.366 Nucleus; Chromosome 0 0 2 1 5 2003-10-03 Q99469 STAC_HUMAN STAC SH3 and cysteine-rich domain-containing protein 402 44.6 3 Cytoplasm; Cell membrane 0 0 2 1 5 2000-12-01 Q99504 EYA3_HUMAN EYA3 Protein phosphatase EYA3 573 62.7 1 3.1.3.48 Cytoplasm; Nucleus 0 0 2 1 5 1998-07-15 Q99932 SPAG8_HUMAN SPAG8 Sperm-associated antigen 8 485 51.1 9 Cytoplasm; Nucleus; Cytoplasmic vesicle 0 0 2 1 5 2005-04-12 Q99963 SH3G3_HUMAN SH3GL3 Endophilin-A3 347 39.3 15 Cytoplasm; Early endosome membrane 0 0 2 1 5 2000-12-01 Q9BQF6 SENP7_HUMAN SENP7 Sentrin-specific protease 7 1050 119.7 3 3.4.22.- Cytoplasm 0 0 2 1 5 2001-10-18 Q9BV40 VAMP8_HUMAN VAMP8 Vesicle-associated membrane protein 8 100 11.4 2 Lysosome membrane; Early endosome membrane; Late endosome membrane; Cell membrane; Zymogen granule membrane 1 0 2 1 5 2004-11-23 Q9BV68 RN126_HUMAN RNF126 E3 ubiquitin-protein ligase RNF126 311 33.9 19 2.3.2.27 Cytoplasm; Nucleus 0 0 2 1 5 2005-09-27 Q9BVQ7 AFG2B_HUMAN AFG2B ATPase family gene 2 protein homolog B 753 80.7 15 3.6.4.10 Cytoplasm; Nucleus 0 2 Deafness, autosomal recessive, 119; Neurodevelopmental disorder with hearing loss and spasticity 2 1 5 2008-04-29 Q9BXJ0 C1QT5_HUMAN C1QTNF5 Complement C1q tumor necrosis factor-related protein 5 243 25.3 11 Apical cell membrane; Secreted 0 1 Late-onset retinal degeneration 2 1 5 2002-04-16 Q9BY66 KDM5D_HUMAN KDM5D Lysine-specific demethylase 5D 1539 174.1 Y 1.14.11.67 Nucleus 0 0 2 1 5 2001-10-24 Q9BY67 CADM1_HUMAN CADM1 Cell adhesion molecule 1 442 48.5 11 Cell membrane; Synapse 1 0 2 1 5 2007-06-26 Q9BZC1 CELF4_HUMAN CELF4 CUGBP Elav-like family member 4 486 52 18 Nucleus; Cytoplasm 0 0 2 1 5 2007-07-10 Q9BZR6 RTN4R_HUMAN RTN4R Reticulon-4 receptor 473 50.7 22 Cell membrane; Membrane raft; Cell projection; Perikaryon 0 1 Schizophrenia 2 1 5 2002-11-25 Q9C0H2 TTYH3_HUMAN TTYH3 Protein tweety homolog 3 523 57.5 7 Cell membrane 5 0 2 1 5 2007-12-04 Q9GZN0 GPR88_HUMAN GPR88 G protein-coupled receptor 88 384 40.2 1 Cell membrane; Cell projection; Cytoplasm; Nucleus 7 1 Chorea, childhood-onset, with psychomotor retardation 2 1 5 2005-03-29 Q9H1R3 MYLK2_HUMAN MYLK2 Myosin light chain kinase 2, skeletal/cardiac muscle 596 64.7 20 2.7.11.18 Cytoplasm 0 1 Cardiomyopathy, familial hypertrophic 2 1 5 2002-10-19 Q9H2C0 GAN_HUMAN GAN Gigaxonin 597 67.6 16 Cytoplasm 0 1 Giant axonal neuropathy 1, autosomal recessive 2 1 5 2001-04-27 Q9H4H8 SCK1D_HUMAN SACK1D Scaffolding CK1 anchoring protein D 585 64.4 20 Cytoplasm 0 0 2 1 5 2002-11-25 Q9H4I2 ZHX3_HUMAN ZHX3 Zinc fingers and homeoboxes protein 3 956 104.7 20 Nucleus 0 0 2 1 5 2002-10-10 Q9H4M3 FBX44_HUMAN FBXO44 F-box only protein 44 255 29.7 1 Nucleus 0 0 2 1 5 2001-09-26 Q9H5F2 CFA68_HUMAN CFAP68 Cilia- and flagella-associated protein 68 150 17.8 11 Cytoplasm; Nucleus; Cell projection 0 0 2 1 5 2004-05-24 Q9H6D3 XKR8_HUMAN XKR8 XK-related protein 8 395 44.7 1 Cell membrane; Cytoplasm 8 0 2 1 5 2005-10-11 Q9H6E4 CC134_HUMAN CCDC134 Coiled-coil domain-containing protein 134 229 26.6 22 Endoplasmic reticulum lumen; Secreted; Cytoplasm; Nucleus 0 1 Osteogenesis imperfecta 22 2 1 5 2006-10-31 Q9H6L5 RETR1_HUMAN RETREG1 Reticulophagy regulator 1 497 54.7 5 Golgi apparatus; Endoplasmic reticulum membrane 4 1 Neuropathy, hereditary sensory and autonomic, 2B 2 1 5 2007-05-29 Q9H6S3 ES8L2_HUMAN EPS8L2 Epidermal growth factor receptor kinase substrate 8-like protein 2 715 80.6 11 Cytoplasm; Cell projection 0 1 Deafness, autosomal recessive, 106 2 1 5 2006-05-30 Q9H993 ARMT1_HUMAN DCPH1 Damage-control phosphatase 1 441 51.2 6 3.1.3.- 0 0 2 1 5 2006-04-04 Q9H9G7 AGO3_HUMAN AGO3 Protein argonaute-3 860 97.4 1 3.1.26.n2 Cytoplasm 0 0 2 1 5 2003-11-14 Q9HAB8 PPCS_HUMAN PPCS Phosphopantothenate--cysteine ligase 311 34 1 6.3.2.51 0 1 Cardiomyopathy, dilated, 2C 2 1 5 2004-05-10 Q9HAZ2 PRD16_HUMAN PRDM16 Histone-lysine N-methyltransferase PRDM16 1276 140.3 1 2.1.1.367 Nucleus; Chromosome; Cytoplasm 0 2 Left ventricular non-compaction 8; Cardiomyopathy, dilated, 1LL 2 1 5 2001-11-16 Q9HBH1 DEFM_HUMAN PDF Peptide deformylase, mitochondrial 243 27 16 3.5.1.88 Mitochondrion 0 0 2 1 5 2001-12-05 Q9HC78 ZBT20_HUMAN ZBTB20 Zinc finger and BTB domain-containing protein 20 741 81.1 3 Nucleus 0 1 Primrose syndrome 2 1 5 2001-09-26 Q9HC84 MUC5B_HUMAN MUC5B Mucin-5B 5762 596.3 11 Secreted 0 1 Interstitial lung disease 2 2 1 5 2002-10-10 Q9HCI7 MSL2_HUMAN MSL2 E3 ubiquitin-protein ligase MSL2 577 62.5 3 2.3.2.27 Nucleus; Chromosome 0 1 Karayol-Borroto-Haghshenas neurodevelopmental syndrome 2 1 5 2007-09-11 Q9NPY3 C1QR1_HUMAN CD93 Complement component C1q receptor 652 68.6 20 Cell membrane 1 0 2 1 5 2002-06-20 Q9NR12 PDLI7_HUMAN PDLIM7 PDZ and LIM domain protein 7 457 49.8 5 Cytoplasm 0 0 2 1 5 2005-12-06 Q9NR22 ANM8_HUMAN PRMT8 Protein arginine N-methyltransferase 8 394 45.3 12 2.1.1.319 Cell membrane 0 0 2 1 5 2001-01-11 Q9NRD9 DUOX1_HUMAN DUOX1 Dual oxidase 1 1551 177.2 15 1.-.-.-, 1.11.1.-, 1.6.3.1 Apical cell membrane 7 0 2 1 5 2006-02-21 Q9NRS6 SNX15_HUMAN SNX15 Sorting nexin-15 342 38.3 11 Cytoplasm; Membrane; Cytoplasmic vesicle membrane 0 0 2 1 5 2001-02-21 Q9NX18 SDHF2_HUMAN SDHAF2 Succinate dehydrogenase assembly factor 2, mitochondrial 166 19.6 11 Mitochondrion matrix 0 1 Pheochromocytoma/paraganglioma syndrome 2 2 1 5 2007-07-10 Q9P286 PAK5_HUMAN PAK5 Serine/threonine-protein kinase PAK 5 719 80.7 20 2.7.11.1 Mitochondrion; Cytoplasm; Nucleus 0 0 2 1 5 2001-01-24 Q9P2R7 SUCB1_HUMAN SUCLA2 Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial 463 50.3 13 6.2.1.5 Mitochondrion 0 1 Mitochondrial DNA depletion syndrome 5 2 1 5 2002-05-27 Q9UBK8 MTRR_HUMAN MTRR Methionine synthase reductase 698 77.7 5 1.16.1.8 Cytoplasm 0 2 Homocystinuria-megaloblastic anemia, cblE type; Neural tube defects, folate-sensitive 2 1 5 2002-03-27 Q9UBR2 CATZ_HUMAN CTSZ Cathepsin Z 303 33.9 20 3.4.18.1 Lysosome 0 0 2 1 5 2001-01-24 Q9UBY9 HSPB7_HUMAN HSPB7 Heat shock protein beta-7 170 18.6 1 Cytoplasm; Nucleus 0 0 2 1 5 2001-01-11 Q9UGC6 RGS17_HUMAN RGS17 Regulator of G protein signaling 17 210 24.4 6 Membrane; Synapse; Nucleus; Cytoplasm 0 0 2 1 5 2001-08-14 Q9UHI6 DDX20_HUMAN DDX20 Probable ATP-dependent RNA helicase DDX20 824 92.2 1 3.6.1.15, 3.6.4.13 Cytoplasm; Nucleus 0 0 2 1 5 2000-12-01 Q9UIF3 TEKT2_HUMAN TEKT2 Tektin-2 430 49.7 1 Cytoplasm 0 0 2 1 5 2002-11-08 Q9UIG0 BAZ1B_HUMAN BAZ1B Tyrosine-protein kinase BAZ1B 1483 170.9 7 2.7.10.2 Nucleus 0 0 2 1 5 2002-08-30 Q9UII6 DS13B_HUMAN DUSP13B Dual specificity protein phosphatase 13B 198 22.1 10 3.1.3.16, 3.1.3.48 0 0 2 1 5 2002-01-23 Q9UL16 CFA45_HUMAN CFAP45 Cilia- and flagella-associated protein 45 551 65.7 1 Cytoplasm; Cell projection 0 1 Heterotaxy, visceral, 11, autosomal, with male infertility 2 1 5 2002-01-23 Q9UMR7 CLC4A_HUMAN CLEC4A C-type lectin domain family 4 member A 237 27.5 12 Cell membrane 1 0 2 1 5 2005-02-15 Q9UN86 G3BP2_HUMAN G3BP2 Ras GTPase-activating protein-binding protein 2 482 54.1 4 Cytoplasm 0 0 2 1 5 2001-07-11 Q9UP38 FZD1_HUMAN FZD1 Frizzled-1 647 71.2 7 Cell membrane 7 0 2 1 5 2001-12-05 Q9Y243 AKT3_HUMAN AKT3 RAC-gamma serine/threonine-protein kinase 479 55.8 1 2.7.11.1 Nucleus; Cytoplasm; Membrane 0 1 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 2 1 5 2000-12-01 Q9Y258 CCL26_HUMAN CCL26 C-C motif chemokine 26 94 10.6 7 Secreted 0 0 2 1 5 2000-05-30 Q9Y2S7 PDIP2_HUMAN POLDIP2 Polymerase delta-interacting protein 2 368 42 17 Mitochondrion matrix; Nucleus 0 0 2 1 5 2004-07-19 Q9Y303 NAGA_HUMAN AMDHD2 N-acetylglucosamine-6-phosphate deacetylase 409 43.7 16 3.5.1.25 0 0 2 1 5 2008-01-15 Q9Y3I1 FBX7_HUMAN FBXO7 F-box only protein 7 522 58.5 22 Cytoplasm; Nucleus; Mitochondrion 0 1 Parkinson disease 15 2 1 5 2001-02-21 Q9Y6D5 BIG2_HUMAN ARFGEF2 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 1785 202 20 Cytoplasm; Membrane; Golgi apparatus; Endosome; Cell projection; Cytoplasmic vesicle; Synapse 0 1 Periventricular nodular heterotopia 2 2 1 5 2001-02-21 Q9Y6X1 SERP1_HUMAN SERP1 Stress-associated endoplasmic reticulum protein 1 66 7.4 3 Membrane; Endoplasmic reticulum membrane 1 0 2 1 5 2007-02-06 Q9Y6X8 ZHX2_HUMAN ZHX2 Zinc fingers and homeoboxes protein 2 837 92.3 8 Nucleus 0 0 2 1 5 2004-03-01 P01714 LV319_HUMAN IGLV3-19 Immunoglobulin lambda variable 3-19 112 12 22 Secreted; Cell membrane 0 0 2 1 4 1986-07-21 Q5TBC7 B2L15_HUMAN BCL2L15 Bcl-2-like protein 15 163 17.7 1 0 0 2 1 4 2007-04-03 Q5VTH2 FLTOP_HUMAN CFAP126 Protein Flattop 177 19.3 1 Cytoplasm; Cell projection; Apical cell membrane 0 0 2 1 4 2008-02-05 Q8N1T3 MYO1H_HUMAN MYO1H Unconventional myosin-Ih 1032 119 12 0 1 Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction 2 1 4 2008-05-20 Q8NHS0 DNJB8_HUMAN DNAJB8 DnaJ homolog subfamily B member 8 232 25.7 3 0 0 2 1 4 2003-01-17 Q8WUN7 UBTD2_HUMAN UBTD2 Ubiquitin domain-containing protein 2 234 26.2 5 Cytoplasm 0 0 2 1 4 2006-06-27 Q9Y3B6 EMC9_HUMAN EMC9 ER membrane protein complex subunit 9 208 23.1 14 Endoplasmic reticulum membrane 0 0 2 1 4 2001-09-26 A0A087WT01 TVA27_HUMAN TRAV27 T cell receptor alpha variable 27 109 12 14 Cell membrane 0 0 2 1 4 2018-02-28 O15335 CHAD_HUMAN CHAD Chondroadherin 359 40.5 17 Secreted 0 0 2 1 4 2002-06-20 P07316 CRGB_HUMAN CRYGB Gamma-crystallin B 175 20.9 2 0 1 Cataract 39, multiple types 2 1 4 1988-04-01 P19876 CXCL3_HUMAN CXCL3 C-X-C motif chemokine 3 107 11.3 4 Secreted 0 0 2 1 4 1991-02-01 Q5SZJ8 BEND6_HUMAN BEND6 BEN domain-containing protein 6 279 31.2 6 Nucleus 0 0 2 1 4 2007-07-24 Q86TM3 DDX53_HUMAN DDX53 Probable ATP-dependent RNA helicase DDX53 631 71.2 X 3.6.4.13 Nucleus 0 0 2 1 4 2005-10-25 Q8WVD5 RN141_HUMAN RNF141 RING finger protein 141 230 25.5 11 Membrane 0 0 2 1 4 2005-09-13 Q8WZ64 ARAP2_HUMAN ARAP2 Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 1704 193.5 4 Cytoplasm 0 0 2 1 4 2005-08-16 Q9H4B8 DPEP3_HUMAN DPEP3 Dipeptidase 3 488 53.7 16 Membrane 0 0 2 1 4 2006-04-04 Q9H4K1 RIBC2_HUMAN RIBC2 RIB43A-like with coiled-coils protein 2 382 45.4 22 Cytoplasm 0 0 2 1 4 2006-10-31 Q9NWV4 CZIB_HUMAN CZIB CXXC motif containing zinc binding protein 160 18 1 0 0 2 1 4 2006-12-12 Q9NZ32 ARP10_HUMAN ACTR10 Actin-related protein 10 417 46.3 14 Cytoplasm 0 0 2 1 4 2003-01-27 Q9UKJ0 PILRB_HUMAN PILRB Paired immunoglobulin-like type 2 receptor beta 227 25.5 7 Membrane 1 0 2 1 4 2006-03-07 P04435 TVB79_HUMAN TRBV7-9 T cell receptor beta variable 7-9 115 13.1 7 Cell membrane 0 0 2 1 4 1987-08-13 P12872 MOTI_HUMAN MLN Promotilin 115 12.9 6 Secreted 0 0 2 1 4 1989-10-01 P29762 RABP1_HUMAN CRABP1 Cellular retinoic acid-binding protein 1 137 15.6 15 Cytoplasm 0 0 2 1 4 1993-04-01 Q12872 SFSWA_HUMAN SFSWAP Splicing factor, suppressor of white-apricot homolog 951 104.8 12 Nucleus 0 0 2 1 4 1998-12-15 Q5VUM1 SDHF4_HUMAN SDHAF4 Succinate dehydrogenase assembly factor 4, mitochondrial 108 12.2 6 Mitochondrion matrix 0 0 2 1 4 2006-06-27 Q86XI6 PPR3B_HUMAN PPP1R3B Protein phosphatase 1 regulatory subunit 3B 285 32.7 8 0 0 2 1 4 2008-03-18 Q8NC96 NECP1_HUMAN NECAP1 Adaptin ear-binding coat-associated protein 1 275 29.7 12 Cytoplasmic vesicle; Cell membrane 0 1 Developmental and epileptic encephalopathy 21 2 1 4 2005-03-29 Q96N28 PLD3A_HUMAN PRELID3A PRELI domain containing protein 3A 172 19.2 18 Mitochondrion 0 0 2 1 4 2007-07-10 Q9NVQ4 FAIM1_HUMAN FAIM Fas apoptotic inhibitory molecule 1 179 20.2 3 Cytoplasm 0 0 2 1 4 2003-11-21 Q9NYL4 FKB11_HUMAN FKBP11 Peptidyl-prolyl cis-trans isomerase FKBP11 201 22.2 12 5.2.1.8 Membrane 1 0 2 1 4 2002-09-19 Q9NZL6 RGL1_HUMAN RGL1 Ral guanine nucleotide dissociation stimulator-like 1 768 86.7 1 0 0 2 1 4 2001-06-20 O95800 GPR75_HUMAN GPR75 Probable G protein-coupled receptor 75 540 59.4 2 Cell membrane 7 0 2 1 4 2005-06-07 Q3ZCX4 ZN568_HUMAN ZNF568 Zinc finger protein 568 644 74.4 19 Nucleus 0 0 2 1 4 2007-10-02 Q8NB37 GALD1_HUMAN GATD1 Glutamine amidotransferase-like class 1 domain-containing protein 1 220 23.3 11 Secreted; Early endosome 0 0 2 1 4 2007-10-02 Q9BWG4 SSBP4_HUMAN SSBP4 Single-stranded DNA-binding protein 4 385 39.4 19 Nucleus 0 0 2 1 4 2003-01-10 Q9H1K6 TLRN1_HUMAN TLNRD1 Talin rod domain-containing protein 1 362 37.8 15 0 0 2 1 4 2002-10-25 Q9H7C9 AAMDC_HUMAN AAMDC Mth938 domain-containing protein 122 13.3 11 Cytoplasm 0 0 2 1 4 2006-06-13 Q9HC38 GLOD4_HUMAN GLOD4 Glyoxalase domain-containing protein 4 313 34.8 17 Mitochondrion 0 0 2 1 4 2007-03-20 Q9UPV7 PHF24_HUMAN PHF24 PHD finger protein 24 400 45.2 9 0 0 2 1 4 2005-08-16 A4QMS7 CFA90_HUMAN CFAP90 Cilia- and flagella-associated protein 90 147 17 5 Cytoplasm 0 0 2 1 4 2008-05-20 A6NHQ4 EPOP_HUMAN EPOP Elongin BC and Polycomb repressive complex 2-associated protein 379 39.3 17 Nucleus; Chromosome 0 0 2 1 4 2008-04-29 A8K979 ERI2_HUMAN ERI2 ERI1 exoribonuclease 2 691 77.4 16 3.1.-.- 0 0 2 1 4 2008-06-10 H3BRN8 PIRC2_HUMAN PIERCE2 Piercer of microtubule wall 2 protein 121 13.8 15 Cytoplasm 0 0 2 1 4 2013-09-18 O15063 GRRE1_HUMAN GARRE1 Granule associated Rac and RHOG effector protein 1 1070 116 19 Cytoplasm 0 0 2 1 4 1998-07-15 O76080 ZFAN5_HUMAN ZFAND5 AN1-type zinc finger protein 5 213 23.1 9 Cytoplasm 0 0 2 1 4 2002-11-15 P48060 GLIP1_HUMAN GLIPR1 Glioma pathogenesis-related protein 1 266 30.4 12 Membrane 1 0 2 1 4 1996-02-01 Q0VFZ6 CF210_HUMAN CFAP210 Cilia- and flagella- associated protein 210 552 66.4 2 Cytoplasm 0 0 2 1 4 2008-02-26 Q5T7N2 LITD1_HUMAN L1TD1 LINE-1 type transposase domain-containing protein 1 865 98.9 1 0 0 2 1 4 2007-10-23 Q6P656 CF161_HUMAN CFAP161 Cilia- and flagella-associated protein 161 301 34.3 15 Cytoplasm 0 0 2 1 4 2006-06-27 Q9NSD7 RL3R1_HUMAN RXFP3 Relaxin-3 receptor 1 469 51.1 5 Cell membrane 7 0 2 1 4 2002-05-02 Q9NXF7 DCA16_HUMAN DCAF16 DDB1- and CUL4-associated factor 16 216 24.2 4 Nucleus 0 0 2 1 4 2007-09-11 A0A0C4DH41 HV461_HUMAN IGHV4-61 Immunoglobulin heavy variable 4-61 118 13.1 14 Secreted; Cell membrane 0 0 2 1 3 2017-01-18 A6NCL1 GEMC1_HUMAN GMNC Geminin coiled-coil domain-containing protein 1 334 37.9 3 Nucleus 0 0 2 1 3 2008-09-02 Q8N9Y4 F181A_HUMAN FAM181A Protein FAM181A 354 38.7 14 0 0 2 1 3 2005-07-05 Q96G27 WBP1_HUMAN WBP1 WW domain-binding protein 1 269 29.1 2 0 0 2 1 3 2002-11-15 Q9Y2H5 PKHA6_HUMAN PLEKHA6 Pleckstrin homology domain-containing family A member 6 1048 117.1 1 0 0 2 1 3 2004-03-29 A0A087WT03 TVAZ1_HUMAN TRAV26-1 T cell receptor alpha variable 26-1 109 12.3 14 Cell membrane 0 0 2 1 3 2018-02-28 A6NGN9 IGLO5_HUMAN IGLON5 IgLON family member 5 336 36.8 19 Secreted 0 0 2 1 3 2008-04-29 P0DOX8 IGL1_HUMAN Immunoglobulin lambda-1 light chain 216 22.8 Secreted; Cell membrane 0 0 2 1 3 2017-03-15 P0DP02 HVC33_HUMAN IGHV3-30-3 Immunoglobulin heavy variable 3-30-3 117 13 Secreted; Cell membrane 0 0 2 1 3 2017-04-12 Q0Z7S8 FABP9_HUMAN FABP9 Fatty acid-binding protein 9 132 15.1 8 Cytoplasm 0 0 2 1 3 2008-02-05 Q8WUD4 CCD12_HUMAN CCDC12 Coiled-coil domain-containing protein 12 166 19.2 3 0 0 2 1 3 2006-01-24 A0JD37 TRDV3_HUMAN TRDV3 T cell receptor delta variable 3 113 13 14 Cell membrane 0 0 2 1 3 2018-12-05 A6NJV1 CMI2C_HUMAN CIMIP2C Ciliary microtubule inner protein 2C 201 23.4 2 Cytoplasm 0 0 2 1 3 2008-04-29 A6NL82 CF144_HUMAN CFAP144 Cilia- and flagella-associated protein 144 134 16 1 Cytoplasm 0 0 2 1 3 2008-06-10 Q52LA3 LIN52_HUMAN LIN52 Protein lin-52 homolog 112 12.5 14 0 0 2 1 3 2006-10-03 Q5VU69 CP141_HUMAN CFAP141 Cilia- and flagella-associated protein 141 101 12.1 1 Cytoplasm 0 0 2 1 3 2007-01-09 Q9P016 THYN1_HUMAN THYN1 Thymocyte nuclear protein 1 225 25.7 11 Nucleus 0 0 2 1 3 2006-11-28 A0A087WSZ9 TVA30_HUMAN TRAV30 T cell receptor alpha variable 30 112 12.6 14 Cell membrane 0 0 2 1 3 2018-02-28 Q6V702 CF299_HUMAN CFAP299 Cilia- and flagella-associated protein 299 233 26.9 4 Cytoplasm; Nucleus 0 0 2 1 3 2007-09-11 Q8NCN5 PDPR_HUMAN PDPR Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial 879 99.4 16 Mitochondrion matrix 0 0 2 1 3 2008-04-08 A0A578 TVB51_HUMAN TRBV5-1 T cell receptor beta variable 5-1 114 12.6 7 Cell membrane 0 0 2 1 3 2018-03-28 P0DP01 HV108_HUMAN IGHV1-8 Immunoglobulin heavy variable 1-8 117 13 Secreted; Cell membrane 0 0 2 1 3 2017-04-12 Q3ZCW2 LEGL_HUMAN LGALSL Galectin-related protein 172 19 2 0 0 2 1 3 2008-01-15 Q5VYV7 SLX4I_HUMAN SLX4IP Protein SLX4IP 408 45.6 20 0 0 2 1 3 2007-10-02 Q8N1D5 CF107_HUMAN CFAP107 Cilia- and flagella-associated protein 107 194 23 1 Cytoplasm 0 0 2 1 3 2006-07-25 Q9BSC4 NOL10_HUMAN NOL10 Nucleolar protein 10 688 80.3 2 Nucleus 0 0 2 1 3 2005-08-30 A0A0J9YX06 TJB12_HUMAN TRBJ1-2 T cell receptor beta joining 1-2 15 1.6 7 Cell membrane 0 0 2 1 2 2019-07-03 Q5H8A3 NMS_HUMAN NMS Neuromedin-S 153 17.7 2 Secreted 0 0 2 1 2 2006-11-28 Q8NFP0 PXT1_HUMAN PXT1 Peroxisomal testis-specific protein 1 134 16 6 Peroxisome 0 0 2 1 2 2008-03-18 A1A4S6 RHG10_HUMAN ARHGAP10 Rho GTPase-activating protein 10 786 89.4 4 Cytoplasm; Cell membrane; Endosome membrane 0 0 1 1 5 2007-10-02 A1L190 SYCE3_HUMAN SYCE3 Synaptonemal complex central element protein 3 88 10.6 22 Nucleus; Chromosome 0 0 1 1 5 2009-03-24 A1L3X0 ELOV7_HUMAN ELOVL7 Very long chain fatty acid elongase 7 281 33.4 5 2.3.1.199 Endoplasmic reticulum membrane 7 0 1 1 5 2007-12-04 A4GXA9 EME2_HUMAN EME2 Structure-specific endonuclease subunit EME2 379 41.2 16 Nucleus 0 0 1 1 5 2008-02-05 A5D8V7 ODAD3_HUMAN ODAD3 Outer dynein arm-docking complex subunit 3 595 69.1 19 Cytoplasm 0 1 Ciliary dyskinesia, primary, 30 1 1 5 2008-02-26 A6NGG8 PCARE_HUMAN PCARE Photoreceptor cilium actin regulator 1288 139.7 2 Cell projection; Photoreceptor inner segment 0 2 Retinitis pigmentosa 54; Cone-rod dystrophy 23 1 1 5 2008-04-08 D3W0D1 KLRF2_HUMAN KLRF2 Killer cell lectin-like receptor subfamily F member 2 207 24 12 Cell membrane 1 0 1 1 5 2011-02-08 O00159 MYO1C_HUMAN MYO1C Unconventional myosin-Ic 1063 121.7 17 Cytoplasm; Nucleus; Cell projection; Cytoplasmic vesicle 0 0 1 1 5 2001-04-27 O00168 PLM_HUMAN FXYD1 Phospholemman 92 10.4 19 Cell membrane; Apical cell membrane; Membrane 1 0 1 1 5 1998-07-15 O00300 TR11B_HUMAN TNFRSF11B Tumor necrosis factor receptor superfamily member 11B 401 46 8 Secreted 0 1 Paget disease of bone 5, juvenile-onset 1 1 5 2002-05-27 O00422 SAP18_HUMAN SAP18 Histone deacetylase complex subunit SAP18 153 17.6 13 Nucleus; Cytoplasm; Nucleus speckle 0 0 1 1 5 2000-05-30 O00746 NDKD_HUMAN NME4 Nucleoside diphosphate kinase D, mitochondrial 187 20.7 16 2.7.4.6 Mitochondrion intermembrane space; Mitochondrion matrix; Mitochondrion outer membrane 0 0 1 1 5 1997-11-01 O14519 CDKA1_HUMAN CDK2AP1 Cyclin-dependent kinase 2-associated protein 1 115 12.4 12 Nucleus; Chromosome 0 0 1 1 5 1999-07-15 O14979 HNRDL_HUMAN HNRNPDL Heterogeneous nuclear ribonucleoprotein D-like 420 46.4 4 Nucleus; Cytoplasm 0 1 Muscular dystrophy, limb-girdle, autosomal dominant 3 1 1 5 2007-05-15 O14994 SYN3_HUMAN SYN3 Synapsin-3 580 63.3 22 Cytoplasmic vesicle 0 0 1 1 5 2000-05-30 O15119 TBX3_HUMAN TBX3 T-box transcription factor TBX3 743 79.4 12 Nucleus 0 1 Ulnar-mammary syndrome 1 1 5 1999-07-15 O15162 PLS1_HUMAN PLSCR1 Phospholipid scramblase 1 318 35 3 Cell membrane; Nucleus; Cytoplasm 1 0 1 1 5 2001-06-20 O15297 PPM1D_HUMAN PPM1D Protein phosphatase 1D 605 66.7 17 3.1.3.16 Nucleus; Cytoplasm 0 3 Jansen-de Vries syndrome; Breast cancer; Ovarian cancer 1 1 5 2000-12-01 O15484 CAN5_HUMAN CAPN5 Calpain-5 640 73.2 11 3.4.22.- 0 1 Vitreoretinopathy, neovascular inflammatory 1 1 5 2003-02-12 O43264 ZW10_HUMAN ZW10 Centromere/kinetochore protein zw10 homolog 779 88.8 11 Cytoplasm; Endoplasmic reticulum membrane; Chromosome; Lipid droplet 0 0 1 1 5 2000-12-01 O43474 KLF4_HUMAN KLF4 Krueppel-like factor 4 513 54.7 9 Nucleus; Cytoplasm 0 0 1 1 5 1998-12-15 O43525 KCNQ3_HUMAN KCNQ3 Potassium voltage-gated channel subfamily KQT member 3 872 96.7 8 Cell membrane 6 1 Seizures, benign familial neonatal 2 1 1 5 1999-07-15 O43581 SYT7_HUMAN SYT7 Synaptotagmin-7 403 45.5 11 Cell membrane; Presynaptic cell membrane; Cytoplasmic vesicle; Lysosome membrane; Peroxisome membrane 1 0 1 1 5 2001-10-18 O43854 EDIL3_HUMAN EDIL3 EGF-like repeat and discoidin I-like domain-containing protein 3 480 53.8 5 Secreted 0 0 1 1 5 2004-01-16 O43865 SAHH2_HUMAN AHCYL1 S-adenosylhomocysteine hydrolase-like protein 1 530 59 1 Endoplasmic reticulum; Cytoplasm; Apical cell membrane; Microsome 0 0 1 1 5 1998-12-15 O43897 TLL1_HUMAN TLL1 Tolloid-like protein 1 1013 114.7 4 3.4.24.- Secreted 0 1 Atrial septal defect 6 1 1 5 2006-02-07 O60245 PCDH7_HUMAN PCDH7 Protocadherin-7 1069 116.1 4 Cell membrane 1 0 1 1 5 2001-12-05 O60284 ST18_HUMAN ST18 Suppression of tumorigenicity 18 protein 1047 115.2 8 Nucleus 0 0 1 1 5 2006-05-02 O60315 ZEB2_HUMAN ZEB2 Zinc finger E-box-binding homeobox 2 1214 136.4 2 Nucleus; Chromosome 0 1 Mowat-Wilson syndrome 1 1 5 2001-02-21 O60469 DSCAM_HUMAN DSCAM Cell adhesion molecule DSCAM 2012 222.3 21 Secreted 1 0 1 1 5 2000-12-01 O60759 CYTIP_HUMAN CYTIP Cytohesin-interacting protein 359 40 2 Cytoplasm; Early endosome 0 0 1 1 5 2005-09-27 O60882 MMP20_HUMAN MMP20 Matrix metalloproteinase-20 483 54.4 11 3.4.24.- Secreted 0 1 Amelogenesis imperfecta, hypomaturation type, 2A2 1 1 5 2000-12-01 O60884 DNJA2_HUMAN DNAJA2 DnaJ homolog subfamily A member 2 412 45.7 16 Membrane 0 0 1 1 5 2001-07-11 O75022 LIRB3_HUMAN LILRB3 Leukocyte immunoglobulin-like receptor subfamily B member 3 631 69.4 19 Cell membrane 1 0 1 1 5 2003-10-03 O75344 FKBP6_HUMAN FKBP6 Inactive peptidyl-prolyl cis-trans isomerase FKBP6 327 37.2 7 Cytoplasm; Nucleus 0 1 Spermatogenic failure 77 1 1 5 2001-02-21 O75503 CLN5_HUMAN CLN5 Bis(monoacylglycero)phosphate synthase CLN5 358 41.5 13 2.3.1.- Lysosome 1 1 Ceroid lipofuscinosis, neuronal, 5 1 1 5 1998-12-15 O75594 PGRP1_HUMAN PGLYRP1 Peptidoglycan recognition protein 1 196 21.7 19 Secreted; Cytoplasmic granule 0 0 1 1 5 2001-10-18 O75628 REM1_HUMAN REM1 GTP-binding protein REM 1 298 32.9 20 0 0 1 1 5 2003-11-07 O75629 CREG1_HUMAN CREG1 Protein CREG1 220 24.1 1 Secreted 0 0 1 1 5 2005-02-15 O75674 TM1L1_HUMAN TOM1L1 TOM1-like protein 1 476 53 17 Golgi apparatus; Endosome membrane; Cytoplasm; Membrane 0 0 1 1 5 2002-11-15 O75815 BCAR3_HUMAN BCAR3 Breast cancer anti-estrogen resistance protein 3 825 92.6 1 Cytoplasm; Cell junction 0 0 1 1 5 2006-04-04 O75828 CBR3_HUMAN CBR3 Carbonyl reductase [NADPH] 3 277 30.9 21 1.1.1.184 Cytoplasm 0 0 1 1 5 1998-12-15 O75838 CIB2_HUMAN CIB2 Calcium and integrin-binding family member 2 187 21.6 15 Cytoplasm; Cell projection; Photoreceptor inner segment; Cell membrane 0 1 Deafness, autosomal recessive, 48 1 1 5 2001-01-11 O75935 DCTN3_HUMAN DCTN3 Dynactin subunit 3 186 21.1 9 Cytoplasm; Chromosome; Cleavage furrow; Midbody 0 0 1 1 5 2006-03-07 O75956 CDKA2_HUMAN CDK2AP2 Cyclin-dependent kinase 2-associated protein 2 126 13.1 11 Cytoplasm; Nucleus 0 0 1 1 5 1999-07-15 O76075 DFFB_HUMAN DFFB DNA fragmentation factor subunit beta 338 39.1 1 3.-.-.- Cytoplasm; Nucleus 0 0 1 1 5 2000-12-01 O76093 FGF18_HUMAN FGF18 Fibroblast growth factor 18 207 24 5 Secreted 0 0 1 1 5 1999-07-15 O94993 SOX30_HUMAN SOX30 Transcription factor SOX-30 753 81.9 5 Nucleus; Cytoplasm 0 0 1 1 5 2002-05-10 O95049 ZO3_HUMAN TJP3 Tight junction protein ZO-3 919 101.4 19 Cell membrane; Cell junction; Nucleus 0 0 1 1 5 2001-01-11 O95154 ARK73_HUMAN AKR7A3 Aldo-keto reductase family 7 member A3 331 37.2 1 1.1.1.2 Cytoplasm 0 0 1 1 5 2001-02-21 O95361 TRI16_HUMAN TRIM16 E3 ubiquitin-protein ligase TRIM16 564 64 17 2.3.2.27 Cytoplasm 0 0 1 1 5 2003-11-28 O95466 FMNL1_HUMAN FMNL1 Formin-like protein 1 1100 121.9 17 Cytoplasm; Cell membrane; Cytoplasmic vesicle 0 0 1 1 5 2002-04-16 O95479 G6PE_HUMAN H6PD GDH/6PGL endoplasmic bifunctional protein 791 88.9 1 Endoplasmic reticulum lumen 0 1 Cortisone reductase deficiency 1 1 1 5 2000-05-30 O95571 ETHE1_HUMAN ETHE1 Persulfide dioxygenase ETHE1, mitochondrial 254 27.9 19 1.13.11.18 Cytoplasm; Nucleus; Mitochondrion matrix 0 1 Ethylmalonic encephalopathy 1 1 5 2005-08-30 O95843 GUC1C_HUMAN GUCA1C Guanylyl cyclase-activating protein 3 209 23.8 3 0 0 1 1 5 2000-05-30 O95876 FRITZ_HUMAN WDPCP WD repeat-containing and planar cell polarity effector protein fritz homolog 746 85.1 2 Cell membrane; Cytoplasm 0 2 Bardet-Biedl syndrome 15; Congenital heart defects, hamartomas of tongue, and polysyndactyly 1 1 5 2008-03-18 O95944 NCTR2_HUMAN NCR2 Natural cytotoxicity triggering receptor 2 276 30.7 6 Cell membrane 1 0 1 1 5 2004-05-24 O95977 S1PR4_HUMAN S1PR4 Sphingosine 1-phosphate receptor 4 384 41.6 19 Cell membrane 7 0 1 1 5 2004-02-16 P02538 K2C6A_HUMAN KRT6A Keratin, type II cytoskeletal 6A 564 60 12 Cytoplasm 0 1 Pachyonychia congenita 3 1 1 5 1986-07-21 P03999 OPSB_HUMAN OPN1SW Short-wave-sensitive opsin 1 345 38.7 7 Cell membrane; Photoreceptor outer segment membrane; Photoreceptor inner segment; Cytoplasm 7 1 Tritan color blindness 1 1 5 1986-10-23 P05177 CP1A2_HUMAN CYP1A2 Cytochrome P450 1A2 516 58.4 15 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 1 1 5 1987-08-13 P08620 FGF4_HUMAN FGF4 Fibroblast growth factor 4 206 22 11 Secreted 0 1 Short-rib thoracic dysplasia 22 without polydactyly 1 1 5 1988-08-01 P09466 PAEP_HUMAN PAEP Glycodelin 180 20.6 9 Secreted 0 0 1 1 5 1989-07-01 P09496 CLCA_HUMAN CLTA Clathrin light chain A 248 27.1 9 Cytoplasmic vesicle membrane; Membrane; Cytoplasm 0 0 1 1 5 1989-07-01 P09543 CN37_HUMAN CNP 2',3'-cyclic-nucleotide 3'-phosphodiesterase 421 47.6 17 3.1.4.37 Melanosome; Mitochondrion 0 1 Leukodystrophy, hypomyelinating, 20 1 1 5 1989-07-01 P0C7P0 CISD3_HUMAN CISD3 CDGSH iron-sulfur domain-containing protein 3, mitochondrial 127 14.2 17 Mitochondrion 0 0 1 1 5 2008-06-10 P0CAP2 GRL1A_HUMAN POLR2M DNA-directed RNA polymerase II subunit GRINL1A 368 41.7 15 Nucleus 0 0 1 1 5 2009-05-26 P0DP58 LYNX1_HUMAN LYNX1 Ly-6/neurotoxin-like protein 1 116 12.6 8 Cell membrane; Cell projection; Endoplasmic reticulum 0 0 1 1 5 2017-07-05 P13765 DOB_HUMAN HLA-DOB HLA class II histocompatibility antigen, DO beta chain 273 30.8 6 Endosome membrane; Lysosome membrane 1 0 1 1 5 1990-01-01 P14136 GFAP_HUMAN GFAP Glial fibrillary acidic protein 432 49.9 17 Cytoplasm 0 1 Alexander disease 1 1 5 1990-01-01 P14550 AK1A1_HUMAN AKR1A1 Aldo-keto reductase family 1 member A1 325 36.6 1 1.1.1.2, 1.1.1.372, 1.1.1.54 Cytoplasm; Apical cell membrane 0 0 1 1 5 1990-01-01 P15514 AREG_HUMAN AREG Amphiregulin 252 27.9 4 Membrane 1 0 1 1 5 1990-04-01 P15848 ARSB_HUMAN ARSB Arylsulfatase B 533 59.7 5 3.1.6.12 Lysosome; Cell surface 0 2 Mucopolysaccharidosis 6; Multiple sulfatase deficiency 1 1 5 1990-04-01 P17540 KCRS_HUMAN CKMT2 Creatine kinase S-type, mitochondrial 419 47.5 5 2.7.3.2 Mitochondrion inner membrane 0 0 1 1 5 1990-08-01 P19532 TFE3_HUMAN TFE3 Transcription factor E3 575 61.5 X Cytoplasm; Nucleus; Lysosome membrane 0 2 Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies; Renal cell carcinoma Xp11-associated 1 1 5 1991-02-01 P21128 ENDOU_HUMAN ENDOU Uridylate-specific endoribonuclease 410 46.9 12 3.1.-.-, 4.6.1.- Secreted 0 0 1 1 5 1991-02-01 P21757 MSRE_HUMAN MSR1 Macrophage scavenger receptor types I and II 451 49.8 8 Cell membrane 1 2 Prostate cancer; Barrett esophagus 1 1 5 1991-05-01 P22735 TGM1_HUMAN TGM1 Protein-glutamine gamma-glutamyltransferase K 817 89.8 14 2.3.2.13 Cell membrane; Cytoplasm 0 1 Ichthyosis, congenital, autosomal recessive 1 1 1 5 1991-08-01 P23083 HV102_HUMAN IGHV1-2 Immunoglobulin heavy variable 1-2 117 13.1 14 Secreted; Cell membrane 0 0 1 1 5 1991-11-01 P23942 PRPH2_HUMAN PRPH2 Peripherin-2 346 39.3 6 Membrane; Cell projection; Photoreceptor inner segment 4 5 Retinitis pigmentosa 7; Retinitis punctata albescens; Macular dystrophy, vitelliform, 3; Macular dystrophy, patterned, 1; Choroidal dystrophy, central areolar 2 1 1 5 1992-03-01 P27482 CALL3_HUMAN CALML3 Calmodulin-like protein 3 149 16.9 10 0 0 1 1 5 1992-08-01 P28069 PIT1_HUMAN POU1F1 Pituitary-specific positive transcription factor 1 291 32.9 3 Nucleus 0 1 Pituitary hormone deficiency, combined, 1 1 1 5 1992-08-01 P28698 MZF1_HUMAN MZF1 Myeloid zinc finger 1 734 82.1 19 Nucleus 0 0 1 1 5 1992-12-01 P29728 OAS2_HUMAN OAS2 2'-5'-oligoadenylate synthase 2 719 82.4 12 2.7.7.84 Cytoplasm; Golgi apparatus membrane 0 1 Autoinflammation and autoimmunity, systemic, with immune dysregulation 2 1 1 5 1993-04-01 P30968 GNRHR_HUMAN GNRHR Gonadotropin-releasing hormone receptor 328 37.7 4 Cell membrane 7 1 Hypogonadotropic hypogonadism 7 with or without anosmia 1 1 5 1993-07-01 P31271 HXA13_HUMAN HOXA13 Homeobox protein Hox-A13 388 39.7 7 Nucleus 0 2 Hand-foot-genital syndrome; Guttmacher syndrome 1 1 5 1993-07-01 P32298 GRK4_HUMAN GRK4 G protein-coupled receptor kinase 4 578 66.6 4 2.7.11.16 Cytoplasm 0 0 1 1 5 1993-10-01 P32320 CDD_HUMAN CDA Cytidine deaminase 146 16.2 1 3.5.4.5 0 0 1 1 5 1993-10-01 P32321 DCTD_HUMAN DCTD Deoxycytidylate deaminase 178 20 4 3.5.4.12 0 0 1 1 5 1993-10-01 P32881 IFNA8_HUMAN IFNA8 Interferon alpha-8 189 22 9 Secreted 0 0 1 1 5 1986-07-21 P32942 ICAM3_HUMAN ICAM3 Intercellular adhesion molecule 3 547 59.5 19 Cell membrane 1 0 1 1 5 1993-10-01 P32970 CD70_HUMAN CD70 CD70 antigen 193 21.1 19 Cell membrane 1 1 Lymphoproliferative syndrome 3 1 1 5 1993-10-01 P34995 PE2R1_HUMAN PTGER1 Prostaglandin E2 receptor EP1 subtype 402 41.8 19 Cell membrane 7 0 1 1 5 1994-02-01 P35243 RECO_HUMAN RCVRN Recoverin 200 23.1 17 Photoreceptor inner segment; Cell projection; Photoreceptor outer segment membrane; Perikaryon 0 0 1 1 5 1994-02-01 P35573 GDE_HUMAN AGL Glycogen debranching enzyme 1532 174.8 1 Cytoplasm 0 1 Glycogen storage disease 3 1 1 5 1994-06-01 P35858 ALS_HUMAN IGFALS Insulin-like growth factor-binding protein complex acid labile subunit 605 66 16 Secreted 0 1 Acid-labile subunit deficiency 1 1 5 1994-06-01 P37235 HPCL1_HUMAN HPCAL1 Hippocalcin-like protein 1 193 22.3 2 Membrane 0 0 1 1 5 1994-10-01 P37802 TAGL2_HUMAN TAGLN2 Transgelin-2 199 22.4 1 0 0 1 1 5 1994-10-01 P38571 LICH_HUMAN LIPA Lysosomal acid lipase/cholesteryl ester hydrolase 399 45.4 10 3.1.1.13 Lysosome 0 2 Cholesteryl ester storage disease; Wolman disease 1 1 5 1994-10-01 P42126 ECI1_HUMAN ECI1 Enoyl-CoA delta isomerase 1, mitochondrial 302 32.8 16 5.3.3.8 Mitochondrion matrix 0 0 1 1 5 1995-11-01 P42331 RHG25_HUMAN ARHGAP25 Rho GTPase-activating protein 25 645 73.4 2 0 0 1 1 5 1995-11-01 P42680 TEC_HUMAN TEC Tyrosine-protein kinase Tec 631 73.6 4 2.7.10.2 Cytoplasm; Cell membrane 0 0 1 1 5 1995-11-01 P43007 SATT_HUMAN SLC1A4 Neutral amino acid transporter A 532 55.7 2 Cell membrane; Melanosome membrane 8 1 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 1 1 5 1995-11-01 P46094 XCR1_HUMAN XCR1 Chemokine XC receptor 1 333 38.5 3 Cell membrane 7 0 1 1 5 1995-11-01 P50226 ST1A2_HUMAN SULT1A2 Sulfotransferase 1A2 295 34.3 16 2.8.2.1 Cytoplasm 0 0 1 1 5 1996-10-01 P50416 CPT1A_HUMAN CPT1A Carnitine O-palmitoyltransferase 1, liver isoform 773 88.4 11 2.3.1.21 Mitochondrion outer membrane 2 1 Carnitine palmitoyltransferase 1A deficiency 1 1 5 1996-10-01 P50748 KNTC1_HUMAN KNTC1 Kinetochore-associated protein 1 2209 250.7 12 Cytoplasm; Nucleus; Chromosome 0 0 1 1 5 1996-10-01 P50897 PPT1_HUMAN PPT1 Palmitoyl-protein thioesterase 1 306 34.2 1 3.1.2.2, 3.1.2.22 Lysosome; Secreted; Golgi apparatus; Endoplasmic reticulum 0 1 Ceroid lipofuscinosis, neuronal, 1 1 1 5 1996-10-01 P51512 MMP16_HUMAN MMP16 Matrix metalloproteinase-16 607 69.5 8 3.4.24.- Cell membrane 1 0 1 1 5 1996-10-01 P51530 DNA2_HUMAN DNA2 DNA replication ATP-dependent helicase/nuclease DNA2 1060 120.4 10 Nucleus; Mitochondrion 0 3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6; Seckel syndrome 8; Rothmund-Thomson syndrome 4 1 1 5 1996-10-01 P51617 IRAK1_HUMAN IRAK1 Interleukin-1 receptor-associated kinase 1 712 76.5 X 2.7.11.1 Cytoplasm; Nucleus; Lipid droplet 0 0 1 1 5 1996-10-01 P51648 AL3A2_HUMAN ALDH3A2 Aldehyde dehydrogenase family 3 member A2 485 54.8 17 1.2.1.3, 1.2.1.94 Microsome membrane; Endoplasmic reticulum membrane 1 1 Sjoegren-Larsson syndrome 1 1 5 1996-10-01 P53674 CRBB1_HUMAN CRYBB1 Beta-crystallin B1 252 28 22 0 1 Cataract 17, multiple types 1 1 5 1996-10-01 P54315 LIPR1_HUMAN PNLIPRP1 Inactive pancreatic lipase-related protein 1 467 51.8 10 Secreted 0 0 1 1 5 1996-10-01 P54802 ANAG_HUMAN NAGLU Alpha-N-acetylglucosaminidase 743 82.3 17 3.2.1.50 Lysosome 0 2 Mucopolysaccharidosis 3B; Charcot-Marie-Tooth disease, axonal, type 2V 1 1 5 1996-10-01 P55809 SCOT1_HUMAN OXCT1 Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial 520 56.2 5 2.8.3.5 Mitochondrion 0 1 Succinyl-CoA:3-oxoacid CoA transferase deficiency 1 1 5 1997-11-01 P57737 CORO7_HUMAN CORO7 Coronin-7 925 100.6 16 Golgi apparatus membrane; Golgi apparatus; Cytoplasmic vesicle; Cytoplasm 0 0 1 1 5 2001-01-11 P61020 RAB5B_HUMAN RAB5B Ras-related protein Rab-5B 215 23.7 12 3.6.5.2 Cell membrane; Early endosome membrane; Melanosome 0 0 1 1 5 2004-04-26 P61968 LMO4_HUMAN LMO4 LIM domain transcription factor LMO4 165 18 1 0 0 1 1 5 2004-06-07 P61970 NTF2_HUMAN NUTF2 Nuclear transport factor 2 127 14.5 16 Cytoplasm; Nucleus outer membrane; Nucleus; Nucleus inner membrane 0 0 1 1 5 2004-06-07 P63128 POK9_HUMAN ERVK-9 Endogenous retrovirus group K member 9 Pol protein 1117 123.6 Cell membrane 0 0 1 1 5 2004-09-13 P78364 PHC1_HUMAN PHC1 Polyhomeotic-like protein 1 1004 105.5 12 Nucleus 0 1 Microcephaly 11, primary, autosomal recessive 1 1 5 2002-11-15 P81534 D103A_HUMAN DEFB103A Beta-defensin 103 67 7.7 8 Secreted 0 0 1 1 5 2001-08-29 Q01081 U2AF1_HUMAN U2AF1 Splicing factor U2AF 35 kDa subunit 240 27.9 21 Nucleus; Nucleus speckle 0 1 Myelodysplastic syndrome 1 1 5 1993-04-01 Q01201 RELB_HUMAN RELB Transcription factor RelB 579 62.1 19 Nucleus; Cytoplasm 0 1 Immunodeficiency 53 1 1 5 1993-10-01 Q01581 HMCS1_HUMAN HMGCS1 Hydroxymethylglutaryl-CoA synthase, cytoplasmic 520 57.3 5 2.3.3.10 Cytoplasm 0 1 Congenital myopathy 28 with rigid spine 1 1 5 1993-07-01 Q03112 MECOM_HUMAN MECOM Histone-lysine N-methyltransferase MECOM 1230 138.1 3 2.1.1.367 Nucleus; Nucleus speckle; Cytoplasm 0 1 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 1 1 5 1994-06-01 Q08554 DSC1_HUMAN DSC1 Desmocollin-1 894 100 18 Cell membrane; Cell junction 1 0 1 1 5 1997-11-01 Q08708 CLM6_HUMAN CD300C CMRF35-like molecule 6 224 24.8 17 Cell membrane 1 0 1 1 5 1996-10-01 Q08AM6 VAC14_HUMAN VAC14 Protein VAC14 homolog 782 88 16 Endosome membrane; Microsome membrane 0 1 Striatonigral degeneration, childhood-onset 1 1 5 2007-09-11 Q12794 HYAL1_HUMAN HYAL1 Hyaluronidase-1 435 48.4 3 3.2.1.35 Secreted; Lysosome 0 1 Mucopolysaccharidosis 9 1 1 5 2005-10-25 Q13794 APR_HUMAN PMAIP1 Phorbol-12-myristate-13-acetate-induced protein 1 54 6 18 Mitochondrion 0 0 1 1 5 2000-05-30 Q14168 MPP2_HUMAN MPP2 MAGUK p55 subfamily member 2 576 64.6 17 Cytoplasm; Membrane; Cell projection; Postsynaptic density 0 0 1 1 5 1997-11-01 Q14188 TFDP2_HUMAN TFDP2 Transcription factor Dp-2 446 49.2 3 Nucleus 0 0 1 1 5 1998-07-15 Q14242 SELPL_HUMAN SELPLG P-selectin glycoprotein ligand 1 412 43.2 12 Membrane 1 0 1 1 5 1997-11-01 Q14515 SPRL1_HUMAN SPARCL1 SPARC-like protein 1 664 75.2 4 Secreted 0 0 1 1 5 2002-09-19 Q14684 RRP1B_HUMAN RRP1B Ribosomal RNA processing protein 1 homolog B 758 84.4 21 Nucleus; Chromosome 0 0 1 1 5 1997-11-01 Q14739 LBR_HUMAN LBR Delta(14)-sterol reductase LBR 615 70.7 1 1.3.1.70 Nucleus inner membrane; Endoplasmic reticulum membrane; Cytoplasm; Nucleus 8 4 Pelger-Huet anomaly; Greenberg dysplasia; Reynolds syndrome; Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly 1 1 5 1997-11-01 Q14919 NC2A_HUMAN DRAP1 Dr1-associated corepressor 205 22.4 11 Nucleus 0 0 1 1 5 2004-12-07 Q14CW9 AT7L3_HUMAN ATXN7L3 Ataxin-7-like protein 3 347 38.7 17 Nucleus 0 1 Harel-Tora neurodevelopmental syndrome 1 1 5 2007-02-20 Q15329 E2F5_HUMAN E2F5 Transcription factor E2F5 346 37.6 8 Nucleus 0 0 1 1 5 1997-11-01 Q15386 UBE3C_HUMAN UBE3C Ubiquitin-protein ligase E3C 1083 123.9 7 2.3.2.26 0 1 Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities 1 1 5 2005-06-07 Q155Q3 DIXC1_HUMAN DIXDC1 Dixin 683 77.5 11 Cell junction; Cytoplasm 0 0 1 1 5 2007-05-15 Q15744 CEBPE_HUMAN CEBPE CCAAT/enhancer-binding protein epsilon 281 30.6 14 Nucleus 0 2 Specific granule deficiency 1; Immunodeficiency 108 with autoinflammation 1 1 5 1998-07-15 Q15818 NPTX1_HUMAN NPTX1 Neuronal pentraxin-1 432 47.1 17 Secreted; Cytoplasmic vesicle; Endoplasmic reticulum 0 1 Spinocerebellar ataxia 50 1 1 5 1997-11-01 Q15835 GRK1_HUMAN GRK1 Rhodopsin kinase GRK1 563 63.5 13 2.7.11.14 Membrane; Cell projection 0 1 Night blindness, congenital stationary, Oguchi type 2 1 1 5 1997-11-01 Q16270 IBP7_HUMAN IGFBP7 Insulin-like growth factor-binding protein 7 282 29.1 4 Secreted 0 1 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 1 1 5 2002-09-19 Q16568 CART_HUMAN CARTPT Cocaine- and amphetamine-regulated transcript protein 116 12.8 5 Secreted 0 0 1 1 5 1997-11-01 Q16629 SRSF7_HUMAN SRSF7 Serine/arginine-rich splicing factor 7 238 27.4 2 Nucleus; Cytoplasm 0 0 1 1 5 1998-12-15 Q16821 PPR3A_HUMAN PPP1R3A Protein phosphatase 1 regulatory subunit 3A 1122 125.8 7 Membrane 1 1 Type 2 diabetes mellitus 1 1 5 2004-09-13 Q17R31 TATD3_HUMAN TATDN3 Deoxyribonuclease TATDN3 274 30.3 1 3.1.11.-, 3.1.21.- Nucleus 0 0 1 1 5 2008-01-15 Q1RMZ1 SAMTR_HUMAN SAMTOR S-adenosylmethionine sensor upstream of mTORC1 405 46.3 7 0 0 1 1 5 2008-02-26 Q2TAK8 PWP3A_HUMAN PWWP3A PWWP domain-containing DNA repair factor 3A 710 78.6 19 Nucleus 0 0 1 1 5 2007-07-10 Q2TBA0 KLH40_HUMAN KLHL40 Kelch-like protein 40 621 69.3 3 Cytoplasm 0 1 Nemaline myopathy 8 1 1 5 2007-02-06 Q4G0N8 SL9C1_HUMAN SLC9C1 Solute carrier family 9 member C1 1177 135.2 3 Cell projection 17 0 1 1 5 2007-07-24 Q53ET0 CRTC2_HUMAN CRTC2 CREB-regulated transcription coactivator 2 693 73.3 1 Cytoplasm; Nucleus 0 0 1 1 5 2008-02-05 Q53GL0 PKHO1_HUMAN PLEKHO1 Pleckstrin homology domain-containing family O member 1 409 46.2 1 Cell membrane; Nucleus; Cytoplasm 0 0 1 1 5 2007-11-13 Q53S33 BOLA3_HUMAN BOLA3 BolA-like protein 3 107 12.1 2 Mitochondrion 0 1 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 1 1 5 2006-07-11 Q5IJ48 CRUM2_HUMAN CRB2 Protein crumbs homolog 2 1285 134.3 9 Apical cell membrane; Cytoplasm; Cell junction 1 3 Focal segmental glomerulosclerosis 9; Retinitis pigmentosa; Ventriculomegaly with cystic kidney disease 1 1 5 2005-07-19 Q5JPB2 ZN831_HUMAN ZNF831 Zinc finger protein 831 1677 177.9 20 0 0 1 1 5 2006-05-16 Q5JSP0 FGD3_HUMAN FGD3 FYVE, RhoGEF and PH domain-containing protein 3 725 79.4 9 Cytoplasm 0 0 1 1 5 2005-03-15 Q5SW79 CE170_HUMAN CEP170 Centrosomal protein of 170 kDa 1584 175.3 1 Cytoplasm 0 0 1 1 5 2007-04-03 Q5T2S8 ODAD2_HUMAN ODAD2 Outer dynein arm-docking complex subunit 2 1044 115.7 10 Cytoplasm 0 1 Ciliary dyskinesia, primary, 23 1 1 5 2006-06-27 Q5TD94 RSH4A_HUMAN RSPH4A Radial spoke head protein 4 homolog A 716 80.7 6 Cytoplasm; Cell projection 0 1 Ciliary dyskinesia, primary, 11 1 1 5 2008-01-15 Q5TEC6 H37_HUMAN H3-7 Histone H3-7 136 15.4 1 Nucleus; Chromosome 0 0 1 1 5 2020-12-02 Q5VT06 CE350_HUMAN CEP350 Centrosome-associated protein 350 3117 350.9 1 Cytoplasm; Nucleus 0 0 1 1 5 2006-05-02 Q6DN12 MCTP2_HUMAN MCTP2 Multiple C2 and transmembrane domain-containing protein 2 878 99.6 15 Membrane 2 0 1 1 5 2007-07-10 Q6GPH4 XAF1_HUMAN XAF1 XIAP-associated factor 1 301 34.6 17 Cytoplasm; Nucleus; Mitochondrion 0 0 1 1 5 2008-04-08 Q6IBW4 CNDH2_HUMAN NCAPH2 Condensin-2 complex subunit H2 605 68.2 22 Nucleus; Chromosome 0 0 1 1 5 2008-03-18 Q6ICB0 DESI1_HUMAN DESI1 Desumoylating isopeptidase 1 168 18.3 22 3.4.-.- Cytoplasm; Nucleus 0 0 1 1 5 2008-02-05 Q6MZP7 LIN54_HUMAN LIN54 Protein lin-54 homolog 749 79.5 4 Nucleus 0 0 1 1 5 2008-07-22 Q6P3S6 FBX42_HUMAN FBXO42 F-box only protein 42 717 77.8 1 Nucleus 0 0 1 1 5 2004-08-31 Q6P3W2 DJC24_HUMAN DNAJC24 DnaJ homolog subfamily C member 24 149 17.1 11 Cytoplasm 0 0 1 1 5 2005-05-24 Q6UVW9 CLC2A_HUMAN CLEC2A C-type lectin domain family 2 member A 174 20 12 Cell membrane 1 0 1 1 5 2006-12-12 Q6UW88 EPGN_HUMAN EPGN Epigen 154 17.1 4 Membrane 1 0 1 1 5 2006-01-10 Q6UXN8 CLC9A_HUMAN CLEC9A C-type lectin domain family 9 member A 241 27.3 12 Membrane 1 0 1 1 5 2005-08-30 Q6WKZ4 RFIP1_HUMAN RAB11FIP1 Rab11 family-interacting protein 1 1283 137.2 8 Recycling endosome; Cytoplasmic vesicle 0 0 1 1 5 2005-05-10 Q6YN16 HSDL2_HUMAN HSDL2 Hydroxysteroid dehydrogenase-like protein 2 418 45.4 9 1.-.-.- Peroxisome; Mitochondrion 0 0 1 1 5 2008-02-26 Q6ZMJ2 SCAR5_HUMAN SCARA5 Scavenger receptor class A member 5 495 54 8 Cell membrane 1 0 1 1 5 2007-03-06 Q6ZUM4 RHG27_HUMAN ARHGAP27 Rho GTPase-activating protein 27 889 98.4 17 Cytoplasm; Membrane 0 0 1 1 5 2008-02-05 Q6ZV73 FGD6_HUMAN FGD6 FYVE, RhoGEF and PH domain-containing protein 6 1430 160.8 12 Cytoplasm 0 0 1 1 5 2005-03-15 Q70Z35 PREX2_HUMAN PREX2 Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein 1606 182.6 8 0 0 1 1 5 2007-05-15 Q76I76 SSH2_HUMAN SSH2 Protein phosphatase Slingshot homolog 2 1423 158.2 17 3.1.3.16, 3.1.3.48 Cytoplasm; Cell junction; Cytoplasmic vesicle 0 0 1 1 5 2005-11-22 Q76L83 ASXL2_HUMAN ASXL2 Putative Polycomb group protein ASXL2 1435 153.8 2 Nucleus 0 1 Shashi-Pena syndrome 1 1 5 2008-01-15 Q7L513 FCRLA_HUMAN FCRLA Fc receptor-like A 359 38.9 1 Cytoplasm 0 0 1 1 5 2006-03-21 Q86TI0 TBCD1_HUMAN TBC1D1 TBC1 domain family member 1 1168 133.1 4 Nucleus 0 0 1 1 5 2003-10-03 Q86UC2 RSPH3_HUMAN RSPH3 Radial spoke head protein 3 homolog 560 63.7 6 Cytoplasm 0 1 Ciliary dyskinesia, primary, 32 1 1 5 2008-01-15 Q86UT6 NLRX1_HUMAN NLRX1 NLR family member X1 975 107.6 11 Mitochondrion outer membrane 0 0 1 1 5 2007-07-24 Q86UT8 CATAC_HUMAN CENATAC Centrosomal AT-AC splicing factor 332 38 11 Cytoplasm 0 1 Mosaic variegated aneuploidy syndrome 4 1 1 5 2007-01-09 Q86X24 HORM1_HUMAN HORMAD1 HORMA domain-containing protein 1 394 45.2 1 Nucleus; Chromosome 0 0 1 1 5 2007-04-17 Q86Y82 STX12_HUMAN STX12 Syntaxin-12 276 31.6 1 Endosome membrane; Golgi apparatus membrane; Endomembrane system; Early endosome membrane; Recycling endosome membrane 1 0 1 1 5 2004-05-10 Q86YC3 LRC33_HUMAN NRROS Transforming growth factor beta activator LRRC33 692 76.4 3 Cell membrane; Endoplasmic reticulum membrane 1 1 Seizures, early-onset, with neurodegeneration and brain calcification 1 1 5 2005-10-25 Q86YP4 P66A_HUMAN GATAD2A Transcriptional repressor p66-alpha 633 68.1 19 Nucleus speckle; Nucleus; Chromosome 0 0 1 1 5 2004-07-19 Q8IUC4 RHPN2_HUMAN RHPN2 Rhophilin-2 686 77 19 Cytoplasm 0 0 1 1 5 2005-02-01 Q8IVL1 NAV2_HUMAN NAV2 Neuron navigator 2 2488 268.2 11 3.6.4.12 Nucleus; Cytoplasm; Cell projection; Perikaryon 0 0 1 1 5 2006-12-12 Q8IVU3 HERC6_HUMAN HERC6 Probable E3 ISG15--protein ligase HERC6 1022 115.1 4 2.3.2.- Cytoplasm 0 0 1 1 5 2007-02-20 Q8IVW4 CDKL3_HUMAN CDKL3 Cyclin-dependent kinase-like 3 592 67.5 5 2.7.11.22 Cytoplasm 0 0 1 1 5 2005-11-22 Q8IX01 SUGP2_HUMAN SUGP2 SURP and G-patch domain-containing protein 2 1082 120.2 19 Nucleus 0 0 1 1 5 2005-03-15 Q8IX07 FOG1_HUMAN ZFPM1 Zinc finger protein ZFPM1 1006 104.9 16 Nucleus 0 0 1 1 5 2004-03-15 Q8IXK2 GLT12_HUMAN GALNT12 Polypeptide N-acetylgalactosaminyltransferase 12 581 66.9 9 2.4.1.41 Golgi apparatus membrane 1 1 Colorectal cancer 1 1 1 5 2004-08-16 Q8IXP5 OCAT1_HUMAN POU2AF2 POU domain class 2-associating factor 2 288 31.1 11 Cytoplasm; Nucleus 0 0 1 1 5 2006-12-12 Q8IY37 DHX37_HUMAN DHX37 Probable ATP-dependent RNA helicase DHX37 1157 129.5 12 3.6.4.13 Nucleus; Cytoplasm; Nucleus membrane 0 2 Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies; 46,XY sex reversal 11 1 1 5 2003-11-07 Q8IY82 DRC7_HUMAN DRC7 Dynein regulatory complex subunit 7 874 103.5 16 Cell projection; Cytoplasm 0 0 1 1 5 2007-03-06 Q8IYD1 ERF3B_HUMAN GSPT2 Eukaryotic peptide chain release factor GTP-binding subunit ERF3B 628 68.9 X 3.6.5.- Cytoplasm 0 0 1 1 5 2008-04-08 Q8N104 D106A_HUMAN DEFB106A Beta-defensin 106 65 7.4 8 Secreted; Membrane 0 0 1 1 5 2002-12-06 Q8N126 CADM3_HUMAN CADM3 Cell adhesion molecule 3 398 43.3 1 Cell membrane; Cell junction 1 1 Charcot-Marie-Tooth disease, axonal, type 2FF 1 1 5 2006-02-07 Q8N159 NAGS_HUMAN NAGS N-acetylglutamate synthase, mitochondrial 534 58.2 17 2.3.1.1 Mitochondrion matrix 0 1 N-acetylglutamate synthase deficiency 1 1 5 2005-09-13 Q8N3C7 CLIP4_HUMAN CLIP4 CAP-Gly domain-containing linker protein 4 705 76.3 2 0 0 1 1 5 2005-03-01 Q8N3Y1 FBXW8_HUMAN FBXW8 F-box/WD repeat-containing protein 8 598 67.4 12 Cytoplasm; Golgi apparatus 0 0 1 1 5 2003-10-03 Q8N4B1 SESQ1_HUMAN PHETA1 Sesquipedalian-1 249 27.2 12 Early endosome; Recycling endosome; Golgi apparatus; Cytoplasmic vesicle 0 0 1 1 5 2006-10-31 Q8N5H7 SH2D3_HUMAN SH2D3C SH2 domain-containing protein 3C 860 94.4 9 Cytoplasm; Cell membrane; Cell projection 0 0 1 1 5 2006-03-21 Q8N612 FHI1B_HUMAN FHIP1B FHF complex subunit HOOK-interacting protein 1B 972 105.6 11 0 0 1 1 5 2006-10-17 Q8N695 SC5A8_HUMAN SLC5A8 Sodium-coupled monocarboxylate transporter 1 610 66.6 12 Apical cell membrane 13 0 1 1 5 2008-05-20 Q8NA56 TTC29_HUMAN TTC29 Tetratricopeptide repeat protein 29 475 55.1 4 Cytoplasm 0 1 Spermatogenic failure 42 1 1 5 2007-07-10 Q8NB14 UBP38_HUMAN USP38 Ubiquitin carboxyl-terminal hydrolase 38 1042 116.5 4 3.4.19.12 Cytoplasm; Nucleus 0 0 1 1 5 2003-10-10 Q8NBJ7 SUMF2_HUMAN SUMF2 Inactive C-alpha-formylglycine-generating enzyme 2 301 33.8 7 Endoplasmic reticulum lumen 0 0 1 1 5 2003-07-25 Q8NBQ7 AQP11_HUMAN AQP11 Aquaporin-11 271 30.2 11 Endoplasmic reticulum membrane; Cytoplasmic vesicle membrane; Cell membrane 6 0 1 1 5 2004-05-10 Q8ND25 ZNRF1_HUMAN ZNRF1 E3 ubiquitin-protein ligase ZNRF1 227 23.8 16 2.3.2.27 Endosome; Lysosome; Membrane; Cytoplasmic vesicle 0 0 1 1 5 2007-02-20 Q8NE71 ABCF1_HUMAN ABCF1 ATP-binding cassette sub-family F member 1 845 95.9 6 Cytoplasm; Nucleus; Nucleus envelope 0 0 1 1 5 2004-12-07 Q8NFU3 TSTD1_HUMAN TSTD1 Thiosulfate:glutathione sulfurtransferase 115 12.5 1 2.8.1.3 Cytoplasm 0 0 1 1 5 2005-06-21 Q8NFZ5 TNIP2_HUMAN TNIP2 TNFAIP3-interacting protein 2 429 48.7 4 Cytoplasm; Nucleus 0 0 1 1 5 2008-02-26 Q8TAI7 REBL1_HUMAN RHEBL1 GTPase RhebL1 183 20.7 12 3.6.5.- Endomembrane system; Cytoplasm 0 0 1 1 5 2008-03-18 Q8TCU3 S7A13_HUMAN SLC7A13 Solute carrier family 7 member 13 470 52.1 8 Apical cell membrane 12 0 1 1 5 2008-04-29 Q8TD26 CHD6_HUMAN CHD6 ATP-dependent chromatin remodeler CHD6 2715 305.4 20 3.6.4.- Nucleus 0 0 1 1 5 2002-09-19 Q8TD46 MO2R1_HUMAN CD200R1 Cell surface glycoprotein CD200 receptor 1 348 39 3 Cell membrane 1 0 1 1 5 2002-11-28 Q8TDI0 CHD5_HUMAN CHD5 ATP-dependent chromatin remodeler CHD5 1954 223.1 1 3.6.4.- Nucleus; Chromosome 0 1 Parenti-Mignot neurodevelopmental syndrome 1 1 5 2004-08-31 Q8TDI8 TMC1_HUMAN TMC1 Transmembrane channel-like protein 1 760 87.8 9 Cell membrane 10 2 Deafness, autosomal dominant, 36; Deafness, autosomal recessive, 7 1 1 5 2002-10-19 Q8TF30 WHAMM_HUMAN WHAMM WASP homolog-associated protein with actin, membranes and microtubules 809 90.9 15 Cytoplasm; Endoplasmic reticulum-Golgi intermediate compartment; Cytoplasmic vesicle membrane; Golgi apparatus 0 0 1 1 5 2007-07-10 Q8WUJ0 STYX_HUMAN STYX Serine/threonine/tyrosine-interacting protein 223 25.5 14 Nucleus; Cytoplasm 0 0 1 1 5 2003-02-28 Q8WV16 DCAF4_HUMAN DCAF4 DDB1- and CUL4-associated factor 4 495 55.7 14 0 0 1 1 5 2003-02-12 Q8WW24 TEKT4_HUMAN TEKT4 Tektin-4 435 50.6 2 Cytoplasm 0 0 1 1 5 2006-11-28 Q8WWN9 ICEF1_HUMAN IPCEF1 Interactor protein for cytohesin exchange factors 1 437 49 6 Cytoplasm; Cell membrane 0 0 1 1 5 2008-04-08 Q8WWQ8 STAB2_HUMAN STAB2 Stabilin-2 2551 277 12 Cell membrane; Cytoplasm 1 0 1 1 5 2004-07-19 Q8WY41 NANO1_HUMAN NANOS1 Nanos homolog 1 292 30.2 10 Cytoplasm 0 1 Spermatogenic failure 12 1 1 5 2004-02-02 Q8WYJ6 SEPT1_HUMAN SEPTIN1 Septin-1 372 42.4 16 Cytoplasm; Midbody 0 0 1 1 5 2002-04-16 Q8WYR4 RSPH1_HUMAN RSPH1 Radial spoke head 1 homolog 309 35.1 21 Cytoplasm; Chromosome 0 1 Ciliary dyskinesia, primary, 24 1 1 5 2002-06-20 Q92504 S39A7_HUMAN SLC39A7 Zinc transporter SLC39A7 469 50.1 6 Endoplasmic reticulum membrane; Golgi apparatus 6 1 Agammaglobulinemia 9, autosomal recessive 1 1 5 2001-01-24 Q969F1 TF3C6_HUMAN GTF3C6 General transcription factor 3C polypeptide 6 213 24 6 Nucleus 0 0 1 1 5 2003-05-09 Q96A49 SYAP1_HUMAN SYAP1 Synapse-associated protein 1 352 39.9 X Cytoplasm; Golgi apparatus; Perikaryon; Cell projection; Presynaptic cell membrane; Postsynaptic cell membrane; Membrane 0 0 1 1 5 2003-05-09 Q96BR5 COA7_HUMAN COA7 Cytochrome c oxidase assembly factor 7 231 25.7 1 Mitochondrion intermembrane space 0 1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 1 1 5 2007-04-03 Q96C55 ZN524_HUMAN ZNF524 Zinc finger protein 524 264 28.7 19 Nucleus; Chromosome 0 0 1 1 5 2006-05-16 Q96CS2 HAUS1_HUMAN HAUS1 HAUS augmin-like complex subunit 1 278 31.9 18 Cytoplasm 0 0 1 1 5 2004-07-19 Q96DA2 RB39B_HUMAN RAB39B Ras-related protein Rab-39B 213 24.6 X 3.6.5.2 Cell membrane; Cytoplasmic vesicle membrane; Golgi apparatus; Cytoplasmic vesicle; Autolysosome membrane 0 2 Intellectual developmental disorder, X-linked 72; Waisman syndrome 1 1 5 2003-01-10 Q96E93 KLRG1_HUMAN KLRG1 Killer cell lectin-like receptor subfamily G member 1 195 21.8 12 Cell membrane 1 0 1 1 5 2008-04-29 Q96FA3 PELI1_HUMAN PELI1 E3 ubiquitin-protein ligase pellino homolog 1 418 46.3 2 2.3.2.27 Chromosome 0 0 1 1 5 2003-10-24 Q96GD4 AURKB_HUMAN AURKB Aurora kinase B 344 39.3 17 2.7.11.1 Nucleus; Chromosome; Cytoplasm; Midbody 0 0 1 1 5 2003-01-17 Q96GM8 TOE1_HUMAN TOE1 Target of EGR1 protein 1 510 56.5 1 Nucleus; Nucleus speckle 0 1 Pontocerebellar hypoplasia 7 1 1 5 2007-01-09 Q96HN2 SAHH3_HUMAN AHCYL2 S-adenosylhomocysteine hydrolase-like protein 2 611 66.7 7 Cytoplasm; Microsome 0 0 1 1 5 2002-07-11 Q96KN7 RPGR1_HUMAN RPGRIP1 X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 1286 146.7 14 Cell projection 0 2 Leber congenital amaurosis 6; Cone-rod dystrophy 13 1 1 5 2004-03-01 Q96KP4 CNDP2_HUMAN CNDP2 Cytosolic non-specific dipeptidase 475 52.9 18 3.4.13.18 Cytoplasm 0 0 1 1 5 2002-09-19 Q96KQ4 ASPP1_HUMAN PPP1R13B Apoptosis-stimulating of p53 protein 1 1090 119.6 14 Cytoplasm; Nucleus 0 0 1 1 5 2003-08-15 Q96LJ7 DHRS1_HUMAN DHRS1 Dehydrogenase/reductase SDR family member 1 313 33.9 14 1.1.1.- Endoplasmic reticulum 0 0 1 1 5 2003-10-10 Q96P11 NSUN5_HUMAN NSUN5 28S rRNA (cytosine-C(5))-methyltransferase 429 46.7 7 2.1.1.- Nucleus 0 0 1 1 5 2006-11-28 Q96PK6 RBM14_HUMAN RBM14 RNA-binding protein 14 669 69.5 11 Nucleus; Cytoplasm 0 0 1 1 5 2005-08-30 Q96PY5 FMNL2_HUMAN FMNL2 Formin-like protein 2 1086 123.3 2 Cytoplasm 0 0 1 1 5 2007-05-29 Q96SL4 GPX7_HUMAN GPX7 Protein peroxidase GPX7 187 21 1 Endoplasmic reticulum 0 1 Barrett esophagus 1 1 5 2003-08-04 Q99467 CD180_HUMAN CD180 CD180 antigen 661 74.2 5 Cell membrane 1 0 1 1 5 2002-03-27 Q99675 CGRF1_HUMAN CGRRF1 Cell growth regulator with RING finger domain protein 1 332 38.2 14 Nucleus; Endoplasmic reticulum 0 0 1 1 5 2004-03-01 Q99704 DOK1_HUMAN DOK1 Docking protein 1 481 52.4 2 Cytoplasm; Nucleus 0 0 1 1 5 2001-11-16 Q99706 KI2L4_HUMAN KIR2DL4 Killer cell immunoglobulin-like receptor 2DL4 377 41.5 19 Cell membrane; Early endosome membrane 1 0 1 1 5 2001-02-21 Q99729 ROAA_HUMAN HNRNPAB Heterogeneous nuclear ribonucleoprotein A/B 332 36.2 5 Nucleus; Cytoplasm 0 0 1 1 5 2003-07-19 Q9BSW7 SYT17_HUMAN SYT17 Synaptotagmin-17 474 53.8 16 Membrane 0 0 1 1 5 2007-12-04 Q9BT23 LIMD2_HUMAN LIMD2 LIM domain-containing protein 2 127 14.1 17 Cytoplasm; Nucleus 0 0 1 1 5 2006-10-03 Q9BV23 ABHD6_HUMAN ABHD6 Monoacylglycerol lipase ABHD6 337 38.3 3 3.1.1.23 Late endosome membrane; Lysosome membrane; Mitochondrion membrane 1 0 1 1 5 2007-03-20 Q9BVN2 RUSC1_HUMAN RUSC1 AP-4 complex accessory subunit RUSC1 902 96.4 1 Cytoplasm; Nucleus; Cytoplasmic vesicle; Early endosome; Postsynaptic density; Golgi apparatus 0 0 1 1 5 2004-07-19 Q9BWF2 TRAIP_HUMAN TRAIP E3 ubiquitin-protein ligase TRAIP 469 53.3 3 2.3.2.27 Nucleus; Chromosome; Cytoplasm 0 1 Seckel syndrome 9 1 1 5 2003-05-09 Q9BWS9 CHID1_HUMAN CHID1 Chitinase domain-containing protein 1 393 44.9 11 Secreted; Lysosome 0 0 1 1 5 2007-03-20 Q9BXP8 PAPP2_HUMAN PAPPA2 Pappalysin-2 1791 198.5 1 3.4.24.- Secreted 0 1 Short stature, Dauber-Argente type 1 1 5 2004-12-07 Q9BXT4 TDRD1_HUMAN TDRD1 Tudor domain-containing protein 1 1180 132 10 Cytoplasm 0 0 1 1 5 2001-11-16 Q9BYJ4 TRI34_HUMAN TRIM34 E3 ubiquitin-protein ligase TRIM34 488 56.9 11 2.3.2.27 Cytoplasm; Mitochondrion 0 0 1 1 5 2004-11-23 Q9BYZ8 REG4_HUMAN REG4 Regenerating islet-derived protein 4 158 18.2 1 Secreted 0 0 1 1 5 2005-07-05 Q9C019 TRI15_HUMAN TRIM15 E3 ubiquitin-protein ligase TRIM15 465 52.1 6 2.3.2.27 Cytoplasm; Nucleus; Cell junction 0 0 1 1 5 2002-11-08 Q9GZU2 PEG3_HUMAN PEG3 Paternally-expressed gene 3 protein 1588 180.8 19 Nucleus; Cytoplasm 0 0 1 1 5 2006-09-05 Q9H063 MAF1_HUMAN MAF1 Repressor of RNA polymerase III transcription MAF1 homolog 256 28.8 8 Nucleus; Cytoplasm 0 0 1 1 5 2004-08-31 Q9H089 LSG1_HUMAN LSG1 Large subunit GTPase 1 homolog 658 75.2 3 3.6.5.- Cytoplasm; Endoplasmic reticulum; Nucleus 0 0 1 1 5 2008-03-18 Q9H0F7 ARL6_HUMAN ARL6 ADP-ribosylation factor-like protein 6 186 21.1 3 Cell projection; Cytoplasm 0 2 Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 1 1 5 2001-06-20 Q9H1P3 OSBL2_HUMAN OSBPL2 Oxysterol-binding protein-related protein 2 480 55.2 20 Cytoplasm; Lipid droplet; Cell membrane; Cell projection 0 2 Deafness, autosomal dominant, 67; Dyschromatosis, ichthyosis, deafness, and atopic disease 1 1 5 2002-02-11 Q9H1X1 RSPH9_HUMAN RSPH9 Radial spoke head protein 9 homolog 276 31.3 6 Cytoplasm; Cell projection 0 1 Ciliary dyskinesia, primary, 12 1 1 5 2005-08-30 Q9H2H0 CXXC4_HUMAN CXXC4 CXXC-type zinc finger protein 4 198 21 Cytoplasm 0 0 1 1 5 2008-02-05 Q9H2K8 TAOK3_HUMAN TAOK3 Serine/threonine-protein kinase TAO3 898 105.4 12 2.7.11.1 Cytoplasm; Cell membrane; Membrane raft; Lipid droplet 0 0 1 1 5 2005-10-25 Q9H2V7 SPNS1_HUMAN SPNS1 Protein spinster homolog 1 528 56.6 16 Lysosome membrane; Mitochondrion inner membrane 12 0 1 1 5 2007-10-02 Q9H334 FOXP1_HUMAN FOXP1 Forkhead box protein P1 677 75.3 3 Nucleus 0 1 Intellectual developmental disorder with language impairment and with or without autistic features 1 1 5 2001-06-20 Q9H3M9 ATX3L_HUMAN ATXN3L Ataxin-3-like protein 355 40.7 X 3.4.19.12 Nucleus 0 0 1 1 5 2007-01-09 Q9H3U1 UN45A_HUMAN UNC45A Protein unc-45 homolog A 944 103.1 15 Cytoplasm; Nucleus 0 1 Osteootohepatoenteric syndrome 1 1 5 2006-09-19 Q9H4T2 ZSC16_HUMAN ZSCAN16 Zinc finger and SCAN domain-containing protein 16 348 40.8 6 Nucleus 0 0 1 1 5 2002-04-16 Q9H672 ASB7_HUMAN ASB7 Ankyrin repeat and SOCS box protein 7 318 36 15 Chromosome; Nucleus 0 0 1 1 5 2003-02-28 Q9H8M7 MINY3_HUMAN MINDY3 Ubiquitin carboxyl-terminal hydrolase MINDY-3 445 49.7 10 3.4.19.12 Nucleus 0 0 1 1 5 2008-02-05 Q9H9H4 VP37B_HUMAN VPS37B Vacuolar protein sorting-associated protein 37B 285 31.3 12 Late endosome membrane 0 0 1 1 5 2007-05-15 Q9HAB3 S52A2_HUMAN SLC52A2 Solute carrier family 52, riboflavin transporter, member 2 445 45.8 8 Cell membrane 11 1 Brown-Vialetto-Van Laere syndrome 2 1 1 5 2005-10-11 Q9HAE3 CLXN_HUMAN CLXN Calaxin 211 24.5 8 Cytoplasm; Cell projection 0 1 Ciliary dyskinesia, primary, 53 1 1 5 2006-10-03 Q9HAS3 S28A3_HUMAN SLC28A3 Solute carrier family 28 member 3 691 76.9 9 Cell membrane 11 0 1 1 5 2008-03-18 Q9HC35 EMAL4_HUMAN EML4 Echinoderm microtubule-associated protein-like 4 981 108.9 2 Cytoplasm; Midbody 0 0 1 1 5 2001-10-18 Q9HCM2 PLXA4_HUMAN PLXNA4 Plexin-A4 1894 212.5 7 Cell membrane 1 0 1 1 5 2006-06-13 Q9NPB6 PAR6A_HUMAN PARD6A Partitioning defective 6 homolog alpha 346 37.4 16 Cytoplasm; Cell membrane; Cell projection; Cell junction 0 0 1 1 5 2003-05-16 Q9NQ69 LHX9_HUMAN LHX9 LIM/homeobox protein Lhx9 397 44 1 Nucleus 0 0 1 1 5 2001-01-24 Q9NQA5 TRPV5_HUMAN TRPV5 Transient receptor potential cation channel subfamily V member 5 729 82.6 7 Apical cell membrane 6 0 1 1 5 2005-04-26 Q9NQG7 HPS4_HUMAN HPS4 BLOC-3 complex member HPS4 708 76.9 22 0 1 Hermansky-Pudlak syndrome 4 1 1 5 2002-06-06 Q9NQX3 GEPH_HUMAN GPHN Gephyrin 736 79.7 14 Postsynaptic cell membrane; Cell membrane; Cytoplasm; Cell projection; Postsynaptic density 0 1 Molybdenum cofactor deficiency, type C 1 1 5 2001-04-27 Q9NR21 PAR11_HUMAN PARP11 Protein mono-ADP-ribosyltransferase PARP11 338 39.6 12 2.4.2.- Nucleus 0 0 1 1 5 2007-01-23 Q9NRF2 SH2B1_HUMAN SH2B1 SH2B adapter protein 1 756 79.4 16 Cytoplasm; Membrane; Nucleus 0 0 1 1 5 2008-03-18 Q9NRQ2 PLS4_HUMAN PLSCR4 Phospholipid scramblase 4 329 37 3 Cell membrane; Nucleus 1 0 1 1 5 2001-06-20 Q9NS86 LANC2_HUMAN LANCL2 LanC-like protein 2 450 50.9 7 Nucleus; Cytoplasm; Cell membrane 0 0 1 1 5 2004-05-10 Q9NU19 TB22B_HUMAN TBC1D22B TBC1 domain family member 22B 505 59.1 6 0 0 1 1 5 2002-11-08 Q9NVA2 SEP11_HUMAN SEPTIN11 Septin-11 429 49.4 4 Cytoplasm; Synapse; Cell projection 0 0 1 1 5 2004-07-19 Q9NVV4 PAPD1_HUMAN MTPAP Poly(A) RNA polymerase, mitochondrial 582 66.2 10 2.7.7.19 Cytoplasm; Mitochondrion 0 1 Spastic ataxia 4, autosomal recessive 1 1 5 2006-10-03 Q9NWU2 GID8_HUMAN GID8 Glucose-induced degradation protein 8 homolog 228 26.7 20 Cytoplasm; Nucleus 0 0 1 1 5 2003-02-01 Q9NWW9 PLAT2_HUMAN PLAAT2 Phospholipase A and acyltransferase 2 162 17.4 11 2.3.1.-, 3.1.1.32, 3.1.1.4 Cytoplasm; Membrane 1 0 1 1 5 2002-09-19 Q9NXG6 P4HTM_HUMAN P4HTM Transmembrane prolyl 4-hydroxylase 502 56.7 3 1.14.11.29 Endoplasmic reticulum membrane 1 1 Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 1 1 5 2003-06-16 Q9NZ01 TECR_HUMAN TECR Very-long-chain enoyl-CoA reductase 308 36 19 1.3.1.93 Endoplasmic reticulum membrane 6 1 Intellectual developmental disorder, autosomal recessive 14 1 1 5 2002-04-16 Q9NZT1 CALL5_HUMAN CALML5 Calmodulin-like protein 5 146 15.9 10 0 0 1 1 5 2001-06-01 Q9P0R6 GSKIP_HUMAN GSKIP GSK3B-interacting protein 139 15.6 14 Cytoplasm; Nucleus 0 0 1 1 5 2003-09-09 Q9P258 RCC2_HUMAN RCC2 Protein RCC2 522 56.1 1 Nucleus; Cytoplasm; Chromosome; Midbody; Cell membrane 0 0 1 1 5 2005-07-19 Q9P2F6 RHG20_HUMAN ARHGAP20 Rho GTPase-activating protein 20 1191 132.6 11 0 0 1 1 5 2007-04-03 Q9UBV8 PEF1_HUMAN PEF1 Peflin 284 30.4 1 Cytoplasm; Endoplasmic reticulum; Membrane; Cytoplasmic vesicle 0 0 1 1 5 2006-07-25 Q9UEW8 STK39_HUMAN STK39 STE20/SPS1-related proline-alanine-rich protein kinase 545 59.5 2 2.7.11.1 Cytoplasm; Nucleus 0 0 1 1 5 2000-12-01 Q9UFD9 RIM3A_HUMAN RIMBP3 RIMS-binding protein 3A 1639 180.7 22 Cytoplasm 0 0 1 1 5 2006-10-31 Q9UGM6 SYWM_HUMAN WARS2 Tryptophan--tRNA ligase, mitochondrial 360 40.1 1 6.1.1.2 Mitochondrion matrix; Mitochondrion 0 2 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures; Parkinsonism-dystonia 3, childhood-onset 1 1 5 2002-06-06 Q9UJA9 ENPP5_HUMAN ENPP5 Ectonucleotide pyrophosphatase/phosphodiesterase family member 5 477 54.7 6 3.1.-.- Secreted; Membrane 1 0 1 1 5 2004-07-19 Q9UJS0 S2513_HUMAN SLC25A13 Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial 675 74.2 7 Mitochondrion inner membrane 6 2 Citrin deficiency, adolescent or adult onset; Citrin deficiency, neonatal or infantile onset 1 1 5 2001-02-21 Q9UKU9 ANGL2_HUMAN ANGPTL2 Angiopoietin-related protein 2 493 57.1 9 Secreted 0 0 1 1 5 2001-04-27 Q9UKW6 ELF5_HUMAN ELF5 ETS-related transcription factor Elf-5 265 31.3 11 Nucleus 0 0 1 1 5 2005-07-05 Q9UL01 DSE_HUMAN DSE Dermatan-sulfate epimerase 958 109.8 6 5.1.3.19 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle membrane; Microsome membrane 2 1 Ehlers-Danlos syndrome, musculocontractural type 2 1 1 5 2006-02-07 Q9ULL8 SHRM4_HUMAN SHROOM4 Protein Shroom4 1493 164.9 X Cytoplasm 0 0 1 1 5 2007-05-15 Q9ULV4 COR1C_HUMAN CORO1C Coronin-1C 474 53.2 12 Cell membrane; Cell projection; Cytoplasm; Endosome membrane 0 0 1 1 5 2001-01-11 Q9UM21 MGT4A_HUMAN MGAT4A Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A 535 61.5 2 2.4.1.145 Golgi apparatus membrane 1 0 1 1 5 2007-05-29 Q9UMX3 BOK_HUMAN BOK Bcl-2-related ovarian killer protein 212 23.3 2 Mitochondrion membrane; Endoplasmic reticulum membrane; Mitochondrion inner membrane; Cytoplasm; Nucleus; Mitochondrion; Endoplasmic reticulum; Mitochondrion outer membrane; Early endosome membrane; Recycling endosome membrane; Nucleus outer membrane; Golgi apparatus; Membrane 1 0 1 1 5 2005-01-04 Q9UMZ2 SYNRG_HUMAN SYNRG Synergin gamma 1314 140.7 17 Cytoplasm; Golgi apparatus; Cytoplasmic vesicle 0 0 1 1 5 2005-03-29 Q9UMZ3 PTPRQ_HUMAN PTPRQ Phosphatidylinositol phosphatase PTPRQ 2332 260.9 3.1.3.67, 3.1.3.86, 3.1.3.95 Cell projection; Apical cell membrane; Basal cell membrane 1 2 Deafness, autosomal recessive, 84A; Deafness, autosomal dominant, 73 1 1 5 2007-09-11 Q9UNH6 SNX7_HUMAN SNX7 Sorting nexin-7 387 45.3 1 Early endosome membrane 0 0 1 1 5 2000-12-01 Q9UPR3 SMG5_HUMAN SMG5 Nonsense-mediated mRNA decay factor SMG5 1016 113.9 1 Cytoplasm; Nucleus 0 0 1 1 5 2005-12-20 Q9Y215 COLQ_HUMAN COLQ Acetylcholinesterase collagenic tail peptide 455 47.8 3 Synapse 0 1 Myasthenic syndrome, congenital, 5 1 1 5 2001-01-11 Q9Y222 DMTF1_HUMAN DMTF1 Cyclin-D-binding Myb-like transcription factor 1 760 84.5 7 Nucleus 0 0 1 1 5 2008-03-18 Q9Y225 RNF24_HUMAN RNF24 RING finger protein 24 148 17.2 20 Golgi apparatus membrane 1 0 1 1 5 2002-03-27 Q9Y227 ENTP4_HUMAN ENTPD4 Ectonucleoside triphosphate diphosphohydrolase 4 616 70.3 8 3.6.1.15, 3.6.1.6 Cytoplasmic vesicle; Lysosome membrane 2 0 1 1 5 2001-08-29 Q9Y241 HIG1A_HUMAN HIGD1A HIG1 domain family member 1A, mitochondrial 93 10.1 3 Mitochondrion membrane; Mitochondrion inner membrane 2 0 1 1 5 2005-09-27 Q9Y287 ITM2B_HUMAN ITM2B Integral membrane protein 2B 266 30.3 13 Golgi apparatus membrane 1 3 Cerebral amyloid angiopathy, ITM2B-related 1; Cerebral amyloid angiopathy, ITM2B-related 2; Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 1 1 5 2001-01-24 Q9Y2C9 TLR6_HUMAN TLR6 Toll-like receptor 6 796 91.9 4 Cell membrane; Cytoplasmic vesicle; Membrane raft; Golgi apparatus 1 0 1 1 5 2002-01-31 Q9Y2I2 NTNG1_HUMAN NTNG1 Netrin-G1 539 60.5 1 Cell membrane 0 0 1 1 5 2003-09-19 Q9Y2K6 UBP20_HUMAN USP20 Ubiquitin carboxyl-terminal hydrolase 20 914 102 9 3.4.19.12 Cytoplasm; Endoplasmic reticulum 0 0 1 1 5 2001-01-24 Q9Y2W7 CSEN_HUMAN KCNIP3 Calsenilin 256 29.2 2 Cytoplasm; Cell membrane; Endoplasmic reticulum; Golgi apparatus; Nucleus 0 0 1 1 5 2001-04-27 Q9Y365 STA10_HUMAN STARD10 START domain-containing protein 10 291 33 11 Cell projection; Cytoplasm; Membrane 0 0 1 1 5 2002-11-15 Q9Y3E2 BOLA1_HUMAN BOLA1 BolA-like protein 1 137 14.3 1 Mitochondrion 0 0 1 1 5 2000-05-30 Q9Y3E5 PTH2_HUMAN PTRH2 Peptidyl-tRNA hydrolase 2, mitochondrial 179 19.2 17 3.1.1.29 Mitochondrion outer membrane 1 1 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 1 1 5 2000-05-30 Q9Y462 ZN711_HUMAN ZNF711 Zinc finger protein 711 761 86.2 X Nucleus 0 1 Intellectual developmental disorder, X-linked 97 1 1 5 2002-09-19 Q9Y4J8 DTNA_HUMAN DTNA Dystrobrevin alpha 743 83.9 18 Cytoplasm; Synapse; Cell membrane 0 2 Left ventricular non-compaction 1; Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 1 1 5 2001-04-27 Q9Y5C1 ANGL3_HUMAN ANGPTL3 Angiopoietin-related protein 3 460 53.6 1 Secreted; Cell projection 0 1 Hypobetalipoproteinemia, familial, 2 1 1 5 2002-11-08 Q9Y653 AGRG1_HUMAN ADGRG1 Adhesion G protein-coupled receptor G1 693 77.7 16 Cell membrane 7 2 Cortical dysplasia, complex, with other brain malformations 14A (bilateral frontoparietal); Cortical dysplasia, complex, with other brain malformations 14B (bilateral perisylvian) 1 1 5 2004-03-15 Q9Y678 COPG1_HUMAN COPG1 Coatomer subunit gamma-1 874 97.7 3 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle 0 1 Immunodeficiency 128 1 1 5 2001-01-11 Q9Y692 GMEB1_HUMAN GMEB1 Glucocorticoid modulatory element-binding protein 1 573 62.6 1 Nucleus; Cytoplasm 0 0 1 1 5 2002-07-26 Q9Y6J6 KCNE2_HUMAN KCNE2 Potassium voltage-gated channel subfamily E member 2 123 14.5 21 Cell membrane; Apical cell membrane 1 2 Long QT syndrome 6; Atrial fibrillation, familial, 4 1 1 5 2000-05-30 Q9Y6M7 S4A7_HUMAN SLC4A7 Sodium bicarbonate cotransporter 3 1214 136 3 Basolateral cell membrane; Apical cell membrane; Cell projection; Cell membrane 11 0 1 1 5 2006-02-07 Q9Y6X2 PIAS3_HUMAN PIAS3 E3 SUMO-protein ligase PIAS3 628 68 1 2.3.2.- Cytoplasm; Nucleus; Nucleus speckle 0 0 1 1 5 2002-03-05 Q9Y6Y1 CMTA1_HUMAN CAMTA1 Calmodulin-binding transcription activator 1 1673 183.7 1 Nucleus; Cytoplasm 0 1 Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 1 5 2006-05-16 A0AVK6 E2F8_HUMAN E2F8 Transcription factor E2F8 867 94.2 11 Nucleus 0 0 1 1 5 2007-08-21 A1XBS5 CBAR1_HUMAN CIBAR1 CBY1-interacting BAR domain-containing protein 1 289 33.4 8 Cytoplasm; Cell projection; Nucleus; Mitochondrion inner membrane 0 1 Polydactyly, postaxial, A9 1 1 5 2007-05-15 A4D126 ISPD_HUMAN CRPPA D-ribitol-5-phosphate cytidylyltransferase 451 49.9 7 2.7.7.40 Cytoplasm 0 2 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7; Muscular dystrophy-dystroglycanopathy limb-girdle C7 1 1 5 2008-07-22 A8K8P3 SFI1_HUMAN SFI1 Protein SFI1 homolog 1242 147.7 22 Cytoplasm 0 0 1 1 5 2008-05-20 A8MTZ0 BBIP1_HUMAN BBIP1 BBSome-interacting protein 1 92 10.5 10 Cell projection; Cytoplasm 0 1 Bardet-Biedl syndrome 18 1 1 5 2008-07-01 A8MYU2 KCNU1_HUMAN KCNU1 Potassium channel subfamily U member 1 1149 129.5 8 Cell membrane; Cell projection 7 1 Spermatogenic failure 79 1 1 5 2008-09-02 G2XKQ0 SUMO5_HUMAN SUMO1P1 Small ubiquitin-related modifier 5 101 11.5 Nucleus 0 0 1 1 5 2018-10-10 M5A8F1 SUPYN_HUMAN ERVH48-1 Suppressyn 160 18.1 21 Secreted 0 0 1 1 5 2014-09-03 O00154 BACH_HUMAN ACOT7 Cytosolic acyl coenzyme A thioester hydrolase 380 41.8 1 3.1.2.2 Cytoplasm 0 0 1 1 5 1997-11-01 O00194 RB27B_HUMAN RAB27B Ras-related protein Rab-27B 218 24.6 18 3.6.5.2 Membrane; Late endosome 0 0 1 1 5 1997-11-01 O00305 CACB4_HUMAN CACNB4 Voltage-dependent L-type calcium channel subunit beta-4 520 58.2 2 0 3 Epilepsy, idiopathic generalized 9; Juvenile myoclonic epilepsy 6; Episodic ataxia 5 1 1 5 1998-07-15 O00468 AGRIN_HUMAN AGRN Agrin 2068 217.3 1 Secreted 0 1 Myasthenic syndrome, congenital, 8 1 1 5 2004-10-25 O14492 SH2B2_HUMAN SH2B2 SH2B adapter protein 2 632 67.7 7 Cytoplasm; Cell membrane 0 0 1 1 5 2003-08-15 O14523 C2C2L_HUMAN C2CD2L Phospholipid transfer protein C2CD2L 706 76.2 11 Endoplasmic reticulum membrane; Cell membrane 1 0 1 1 5 1998-07-15 O14544 SOCS6_HUMAN SOCS6 Suppressor of cytokine signaling 6 535 59.5 18 0 0 1 1 5 2002-04-16 O14595 CTDS2_HUMAN CTDSP2 Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 271 30.7 12 3.1.3.16 Nucleus 0 0 1 1 5 2001-12-13 O14645 IDLC_HUMAN DNALI1 Axonemal dynein light intermediate polypeptide 1 258 29.7 1 Cell projection; Dynein axonemal particle; Cytoplasm 0 1 Spermatogenic failure 83 1 1 5 2001-06-20 O14653 GOSR2_HUMAN GOSR2 Golgi SNAP receptor complex member 2 212 24.8 17 Golgi apparatus; Golgi apparatus membrane; Endoplasmic reticulum membrane 1 2 Epilepsy, progressive myoclonic 6; Muscular dystrophy, congenital, with or without seizures 1 1 5 2000-12-01 O14917 PCD17_HUMAN PCDH17 Protocadherin-17 1159 126.2 13 Cell membrane 1 0 1 1 5 2004-01-16 O15021 MAST4_HUMAN MAST4 Microtubule-associated serine/threonine-protein kinase 4 2623 284.1 5 2.7.11.1 Cytoplasm 0 0 1 1 5 2006-10-03 O15066 KIF3B_HUMAN KIF3B Kinesin-like protein KIF3B 747 85.1 20 Cytoplasm; Cell projection 0 1 Retinitis pigmentosa 89 1 1 5 1998-12-15 O15131 IMA6_HUMAN KPNA5 Importin subunit alpha-6 539 60.7 6 Cytoplasm 0 0 1 1 5 1998-07-15 O15155 BET1_HUMAN BET1 BET1 homolog 118 13.3 7 Endoplasmic reticulum membrane; Golgi apparatus; Golgi apparatus membrane 1 1 Muscular dystrophy, congenital, with rapid progression 1 1 5 2003-01-17 O15194 CTDSL_HUMAN CTDSPL CTD small phosphatase-like protein 276 31.1 3 3.1.3.16 Nucleus 0 0 1 1 5 2001-12-13 O15198 SMAD9_HUMAN SMAD9 SMAD family member 9 467 52.5 13 Cytoplasm; Nucleus 0 1 Pulmonary hypertension, primary, 2 1 1 5 2001-05-04 O15229 KMO_HUMAN KMO Kynurenine 3-monooxygenase 486 55.8 1 1.14.13.9 Mitochondrion outer membrane 2 0 1 1 5 2006-04-04 O43169 CYB5B_HUMAN CYB5B Cytochrome b5 type B 150 16.7 16 Mitochondrion outer membrane 1 0 1 1 5 2001-01-11 O43187 IRAK2_HUMAN IRAK2 Interleukin-1 receptor-associated kinase-like 2 625 69.4 3 0 0 1 1 5 2001-01-11 O43435 TBX1_HUMAN TBX1 T-box transcription factor TBX1 398 43.1 22 Nucleus 0 4 DiGeorge syndrome; Velocardiofacial syndrome; Conotruncal heart malformations; Tetralogy of Fallot 1 1 5 1999-07-15 O43488 ARK72_HUMAN AKR7A2 Aflatoxin B1 aldehyde reductase member 2 359 39.6 1 1.1.1.n11 Mitochondrion; Golgi apparatus; Cytoplasm 0 0 1 1 5 1999-07-15 O43493 TGON2_HUMAN TGOLN2 Trans-Golgi network integral membrane protein 2 437 45.9 2 Cell membrane; Golgi apparatus 1 0 1 1 5 2000-12-01 O43653 PSCA_HUMAN PSCA Prostate stem cell antigen 114 12 8 Cell membrane 0 0 1 1 5 2000-12-01 O43759 SNG1_HUMAN SYNGR1 Synaptogyrin-1 233 25.5 22 Cytoplasmic vesicle; Melanosome 4 0 1 1 5 2000-05-30 O60271 JIP4_HUMAN SPAG9 C-Jun-amino-terminal kinase-interacting protein 4 1321 146.2 17 Cytoplasm; Lysosome membrane 0 0 1 1 5 2006-05-02 O60499 STX10_HUMAN STX10 Syntaxin-10 249 28.1 19 Golgi apparatus membrane 1 0 1 1 5 2001-11-16 O60829 PAGE4_HUMAN PAGE4 P antigen family member 4 102 11.2 X Cytoplasm; Nucleus; Mitochondrion 0 0 1 1 5 2001-01-11 O60936 NOL3_HUMAN NOL3 Nucleolar protein 3 208 22.6 16 Nucleus 0 1 Myoclonus, familial, 1 1 1 5 2002-05-02 O75027 ABCB7_HUMAN ABCB7 Iron-sulfur clusters transporter ABCB7, mitochondrial 752 82.6 X Mitochondrion inner membrane 6 1 Spinocerebellar ataxia, X-linked 6, with or without sideroblastic anemia 1 1 5 1998-12-15 O75324 SNN_HUMAN SNN Stannin 88 9.5 16 Mitochondrion outer membrane 1 0 1 1 5 1998-12-15 O75563 SKAP2_HUMAN SKAP2 Src kinase-associated phosphoprotein 2 359 41.2 7 Cytoplasm 0 0 1 1 5 2007-01-09 O75747 P3C2G_HUMAN PIK3C2G Phosphatidylinositol 3-kinase C2 domain-containing subunit gamma 1486 170.7 12 2.7.1.137, 2.7.1.154 Membrane 0 0 1 1 5 2001-04-27 O75888 TNF13_HUMAN TNFSF13 Tumor necrosis factor ligand superfamily member 13 250 27.4 17 Secreted 0 0 1 1 5 2001-02-21 O75937 DNJC8_HUMAN DNAJC8 DnaJ homolog subfamily C member 8 253 29.8 1 Nucleus 0 0 1 1 5 2002-09-19 O76095 JTB_HUMAN JTB Protein JTB 146 16.4 1 Membrane; Mitochondrion; Cytoplasm 1 0 1 1 5 1999-07-15 O94806 KPCD3_HUMAN PRKD3 Serine/threonine-protein kinase D3 890 100.5 2 2.7.11.13 Cytoplasm; Membrane 0 0 1 1 5 2001-01-11 O94842 TOX4_HUMAN TOX4 TOX high mobility group box family member 4 621 66.2 14 Nucleus; Chromosome 0 0 1 1 5 2003-07-19 O94913 PCF11_HUMAN PCF11 Pre-mRNA cleavage complex 2 protein Pcf11 1555 173.1 11 Nucleus 0 0 1 1 5 2001-04-27 O95197 RTN3_HUMAN RTN3 Reticulon-3 1032 112.6 11 Endoplasmic reticulum membrane; Golgi apparatus membrane 0 0 1 1 5 2001-04-27 O95235 KI20A_HUMAN KIF20A Kinesin-like protein KIF20A 890 100.3 5 Golgi apparatus; Cytoplasm 0 1 Cardiomyopathy, familial restrictive 6 1 1 5 2000-05-30 O95239 KIF4A_HUMAN KIF4A Chromosome-associated kinesin KIF4A 1232 139.9 X Nucleus matrix; Cytoplasm; Midbody; Chromosome 0 2 Intellectual developmental disorder, X-linked 100; Taurodontism, microdontia, and dens invaginatus 1 1 5 1999-07-15 O95273 CCDB1_HUMAN CCNDBP1 Cyclin-D1-binding protein 1 360 40.3 15 Cytoplasm; Nucleus 0 0 1 1 5 2008-03-18 O95398 RPGF3_HUMAN RAPGEF3 Rap guanine nucleotide exchange factor 3 923 103.8 12 Endomembrane system 0 0 1 1 5 2003-06-20 O95487 SC24B_HUMAN SEC24B Protein transport protein Sec24B 1268 137.4 4 Cytoplasmic vesicle; Endoplasmic reticulum membrane; Cytoplasm 0 0 1 1 5 2001-02-21 O95684 CEP43_HUMAN CEP43 Centrosomal protein 43 399 43.1 6 Cytoplasm 0 0 1 1 5 2006-05-02 O95711 LY86_HUMAN LY86 Lymphocyte antigen 86 162 17.9 6 Secreted 0 0 1 1 5 2002-03-27 O95716 RAB3D_HUMAN RAB3D Ras-related protein Rab-3D 219 24.3 19 3.6.5.2 Cell membrane 0 0 1 1 5 1999-07-15 O95801 CNS1_HUMAN TTC4 Hsp70/Hsp90 co-chaperone CNS1 homolog 387 44.7 1 Nucleus; Cytoplasm 0 0 1 1 5 2000-05-30 P01574 IFNB_HUMAN IFNB1 Interferon beta 187 22.3 9 Secreted 0 0 1 1 5 1986-07-21 P05937 CALB1_HUMAN CALB1 Calbindin 261 30 8 0 0 1 1 5 1988-11-01 P07098 LIPF_HUMAN LIPF Gastric triacylglycerol lipase 398 45.2 10 3.1.1.3 Secreted 0 0 1 1 5 1988-04-01 P07203 GPX1_HUMAN GPX1 Glutathione peroxidase 1 203 22.1 3 1.11.1.9 Cytoplasm; Mitochondrion 0 0 1 1 5 1988-04-01 P07315 CRGC_HUMAN CRYGC Gamma-crystallin C 174 20.9 2 0 1 Cataract 2, multiple types 1 1 5 1988-04-01 P08237 PFKAM_HUMAN PFKM ATP-dependent 6-phosphofructokinase, muscle type 780 85.2 12 2.7.1.11 Cytoplasm 0 1 Glycogen storage disease 7 1 1 5 1988-08-01 P08571 CD14_HUMAN CD14 Monocyte differentiation antigen CD14 375 40.1 5 Cell membrane; Secreted; Membrane raft; Golgi apparatus 0 0 1 1 5 1988-08-01 P10588 NR2F6_HUMAN NR2F6 Nuclear receptor subfamily 2 group F member 6 404 43 19 Nucleus 0 0 1 1 5 1989-07-01 P11217 PYGM_HUMAN PYGM Glycogen phosphorylase, muscle form 842 97.1 11 2.4.1.1 0 1 Glycogen storage disease 5 1 1 5 1989-07-01 P11488 GNAT1_HUMAN GNAT1 Guanine nucleotide-binding protein G(t) subunit alpha-1 350 40 3 3.6.5.- Photoreceptor outer segment membrane; Membrane; Photoreceptor inner segment 0 2 Night blindness, congenital stationary, autosomal dominant 3; Night blindness, congenital stationary, 1G 1 1 5 1989-10-01 P12273 PIP_HUMAN PIP Prolactin-inducible protein 146 16.6 7 Secreted 0 0 1 1 5 1989-10-01 P14316 IRF2_HUMAN IRF2 Interferon regulatory factor 2 349 39.4 4 Nucleus; Chromosome 0 0 1 1 5 1990-01-01 P14384 CBPM_HUMAN CPM Carboxypeptidase M 443 50.5 12 3.4.17.12 Cell membrane 0 0 1 1 5 1990-01-01 P16118 F261_HUMAN PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1 471 54.7 X 0 0 1 1 5 1990-04-01 P16401 H15_HUMAN H1-5 Histone H1.5 226 22.6 6 Nucleus; Chromosome 0 0 1 1 5 1990-08-01 P16671 CD36_HUMAN CD36 Platelet glycoprotein 4 472 53.1 7 Cell membrane; Membrane raft; Golgi apparatus; Apical cell membrane 2 2 Platelet glycoprotein IV deficiency; Coronary heart disease 7 1 1 5 1990-08-01 P17516 AK1C4_HUMAN AKR1C4 Aldo-keto reductase family 1 member C4 323 37.1 10 1.1.1.-, 1.1.1.209, 1.1.1.210, 1.1.1.51, 1.1.1.53, 1.1.1.62 Cytoplasm 0 1 46,XY sex reversal 8 1 1 5 1990-08-01 P17735 ATTY_HUMAN TAT Tyrosine aminotransferase 454 50.4 16 2.6.1.5 0 1 Tyrosinemia 2 1 1 5 1990-08-01 P18085 ARF4_HUMAN ARF4 ADP-ribosylation factor 4 180 20.5 3 Golgi apparatus; Membrane 0 0 1 1 5 1990-11-01 P18283 GPX2_HUMAN GPX2 Glutathione peroxidase 2 190 22 14 1.11.1.9 Cytoplasm 0 0 1 1 5 1990-11-01 P20908 CO5A1_HUMAN COL5A1 Collagen alpha-1(V) chain 1838 183.6 9 Secreted 0 2 Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 1 1 5 1991-02-01 P24855 DNAS1_HUMAN DNASE1 Deoxyribonuclease-1 282 31.4 16 3.1.21.1 Secreted; Zymogen granule; Nucleus envelope 0 1 Systemic lupus erythematosus 1 1 5 1992-03-01 P26651 TTP_HUMAN ZFP36 mRNA decay activator protein ZFP36 326 34 19 Nucleus; Cytoplasm; Cytoplasmic granule 0 0 1 1 5 1992-08-01 P30154 2AAB_HUMAN PPP2R1B Serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A beta isoform 601 66.2 11 0 0 1 1 5 1993-04-01 P31358 CD52_HUMAN CD52 CAMPATH-1 antigen 61 6.6 1 Cell membrane 0 0 1 1 5 1993-07-01 P32121 ARRB2_HUMAN ARRB2 Beta-arrestin-2 409 46.1 17 Cytoplasm; Nucleus; Cell membrane; Membrane; Cytoplasmic vesicle 0 0 1 1 5 1993-10-01 P34741 SDC2_HUMAN SDC2 Syndecan-2 201 22.2 8 Membrane 1 0 1 1 5 1994-02-01 P34931 HS71L_HUMAN HSPA1L Heat shock 70 kDa protein 1-like 641 70.4 6 0 0 1 1 5 1994-02-01 P35080 PROF2_HUMAN PFN2 Profilin-2 140 15 3 Cytoplasm 0 0 1 1 5 1994-02-01 P35590 TIE1_HUMAN TIE1 Tyrosine-protein kinase receptor Tie-1 1138 125.1 1 2.7.10.1 Cell membrane 1 1 Lymphatic malformation 11 1 1 5 1994-06-01 P35625 TIMP3_HUMAN TIMP3 Metalloproteinase inhibitor 3 211 24.1 22 Secreted 0 1 Sorsby fundus dystrophy 1 1 5 1994-06-01 P37275 ZEB1_HUMAN ZEB1 Zinc finger E-box-binding homeobox 1 1124 124.1 10 Nucleus 0 2 Corneal dystrophy, posterior polymorphous, 3; Corneal dystrophy, Fuchs endothelial, 6 1 1 5 1994-10-01 P40126 TYRP2_HUMAN DCT L-dopachrome tautomerase 519 59.1 13 5.3.3.12 Melanosome membrane; Melanosome 1 1 Albinism, oculocutaneous, 8 1 1 5 1995-02-01 P40200 TACT_HUMAN CD96 T-cell surface protein tactile 585 65.6 3 Membrane 1 1 C syndrome 1 1 5 1995-02-01 P42695 CNDD3_HUMAN NCAPD3 Condensin-2 complex subunit D3 1498 168.9 11 Nucleus 0 1 Microcephaly 22, primary, autosomal recessive 1 1 5 1995-11-01 P42704 LPPRC_HUMAN LRPPRC Leucine-rich PPR motif-containing protein, mitochondrial 1394 157.9 2 Mitochondrion; Nucleus; Nucleus inner membrane; Nucleus outer membrane 0 1 Mitochondrial complex IV deficiency, nuclear type 5 1 1 5 1995-11-01 P45877 PPIC_HUMAN PPIC Peptidyl-prolyl cis-trans isomerase C 212 22.8 5 5.2.1.8 Cytoplasm 0 0 1 1 5 1995-11-01 P46926 GNPI1_HUMAN GNPDA1 Glucosamine-6-phosphate deaminase 1 289 32.7 5 3.5.99.6 Cytoplasm 0 0 1 1 5 1995-11-01 P48050 KCNJ4_HUMAN KCNJ4 Inward rectifier potassium channel 4 445 49.5 22 Cell membrane; Postsynaptic cell membrane; Cytoplasmic vesicle membrane 2 0 1 1 5 1996-02-01 P48539 PCP4_HUMAN PCP4 Calmodulin regulator protein PCP4 62 6.8 21 0 0 1 1 5 1996-02-01 P48764 SL9A3_HUMAN SLC9A3 Sodium/hydrogen exchanger 3 834 92.9 5 Apical cell membrane; Cell membrane; Recycling endosome membrane; Early endosome membrane 13 1 Diarrhea 8, secretory sodium, congenital 1 1 5 1996-02-01 P50607 TUB_HUMAN TUB Tubby protein homolog 506 55.7 11 Cytoplasm; Nucleus; Secreted; Cell membrane 0 1 Retinal dystrophy and obesity 1 1 5 1996-10-01 P50851 LRBA_HUMAN LRBA Lipopolysaccharide-responsive and beige-like anchor protein 2863 319.1 4 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Lysosome membrane 1 1 Immunodeficiency, common variable, 8, with autoimmunity 1 1 5 1996-10-01 P51003 PAPOA_HUMAN PAPOLA Poly(A) polymerase alpha 745 82.8 14 2.7.7.19 Cytoplasm; Nucleus 0 0 1 1 5 1996-10-01 P51677 CCR3_HUMAN CCR3 C-C chemokine receptor type 3 355 41 3 Cell membrane 7 0 1 1 5 1996-10-01 P53673 CRBA4_HUMAN CRYBA4 Beta-crystallin A4 196 22.4 22 0 1 Cataract 23, multiple types 1 1 5 1996-10-01 P53805 RCAN1_HUMAN RCAN1 Calcipressin-1 252 28.1 21 0 0 1 1 5 1996-10-01 P54826 GAS1_HUMAN GAS1 Growth arrest-specific protein 1 345 35.7 9 Cell membrane 0 0 1 1 5 1996-10-01 P54886 P5CS_HUMAN ALDH18A1 Delta-1-pyrroline-5-carboxylate synthase 795 87.3 10 Mitochondrion; Mitochondrion matrix 0 4 Cutis laxa, autosomal recessive, 3A; Cutis laxa, autosomal dominant, 3; Spastic paraplegia 9A, autosomal dominant; Spastic paraplegia 9B, autosomal recessive 1 1 5 1996-10-01 P55290 CAD13_HUMAN CDH13 Cadherin-13 713 78.3 16 Cell membrane; Cytoplasm 0 0 1 1 5 1996-10-01 P56597 NDK5_HUMAN NME5 Nucleoside diphosphate kinase 5 212 24.2 5 Cell projection; Cytoplasm 0 1 Ciliary dyskinesia, primary, 48, without situs inversus 1 1 5 1998-12-15 P56703 WNT3_HUMAN WNT3 Proto-oncogene Wnt-3 355 39.6 17 Secreted 0 1 Tetraamelia syndrome 1 1 1 5 1999-07-15 P78545 ELF3_HUMAN ELF3 ETS-related transcription factor Elf-3 371 41.5 1 Cytoplasm; Nucleus 0 0 1 1 5 2007-05-15 P82279 CRUM1_HUMAN CRB1 Protein crumbs homolog 1 1406 154.2 1 Apical cell membrane; Secreted; Cell projection; Photoreceptor inner segment 1 3 Retinitis pigmentosa 12; Leber congenital amaurosis 8; Pigmented paravenous chorioretinal atrophy 1 1 5 2001-10-18 P85037 FOXK1_HUMAN FOXK1 Forkhead box protein K1 733 75.5 7 Nucleus; Cytoplasm 0 0 1 1 5 2006-11-28 P98171 RHG04_HUMAN ARHGAP4 Rho GTPase-activating protein 4 946 105 X Cytoplasm 0 0 1 1 5 1996-10-01 Q00532 CDKL1_HUMAN CDKL1 Cyclin-dependent kinase-like 1 357 41.7 14 2.7.11.22 Cytoplasm; Nucleus 0 0 1 1 5 1993-04-01 Q01658 NC2B_HUMAN DR1 Protein Dr1 176 19.4 1 Nucleus 0 0 1 1 5 1993-07-01 Q02535 ID3_HUMAN ID3 DNA-binding protein inhibitor ID-3 119 13 1 Nucleus 0 0 1 1 5 1995-02-01 Q03013 GSTM4_HUMAN GSTM4 Glutathione S-transferase Mu 4 218 25.6 1 2.5.1.18 Cytoplasm 0 0 1 1 5 1995-11-01 Q03393 PTPS_HUMAN PTS 6-pyruvoyl tetrahydrobiopterin synthase 145 16.4 11 4.2.3.12 0 1 Hyperphenylalaninemia, BH4-deficient, A 1 1 5 1993-10-01 Q03426 KIME_HUMAN MVK Mevalonate kinase 396 42.5 12 2.7.1.36 Cytoplasm; Peroxisome 0 3 Mevalonic aciduria; Hyperimmunoglobulinemia D and periodic fever syndrome; Porokeratosis 3, multiple types 1 1 5 1993-10-01 Q05048 CSTF1_HUMAN CSTF1 Cleavage stimulation factor subunit 1 431 48.4 20 Nucleus 0 0 1 1 5 1994-02-01 Q06643 TNFC_HUMAN LTB Lymphotoxin-beta 244 25.4 6 Membrane 1 0 1 1 5 1994-06-01 Q08493 PDE4C_HUMAN PDE4C 3',5'-cyclic-AMP phosphodiesterase 4C 712 79.9 19 3.1.4.53 Cell projection 0 0 1 1 5 1996-10-01 Q0D2I5 IFFO1_HUMAN IFFO1 Non-homologous end joining factor IFFO1 559 62 12 Nucleus; Nucleus inner membrane; Nucleus matrix 0 0 1 1 5 2008-02-05 Q0VDD7 BRME1_HUMAN BRME1 Break repair meiotic recombinase recruitment factor 1 668 69.6 19 Chromosome 0 0 1 1 5 2007-07-24 Q12792 TWF1_HUMAN TWF1 Twinfilin-1 350 40.3 12 Cytoplasm 0 0 1 1 5 2004-02-02 Q12972 PP1R8_HUMAN PPP1R8 Nuclear inhibitor of protein phosphatase 1 351 38.5 1 Nucleus; Nucleus speckle 0 0 1 1 5 2000-05-30 Q13118 KLF10_HUMAN KLF10 Krueppel-like factor 10 480 52.6 8 Nucleus 0 0 1 1 5 2000-12-01 Q13308 PTK7_HUMAN PTK7 Inactive tyrosine-protein kinase 7 1070 118.4 6 Cell membrane; Cell junction 1 0 1 1 5 2000-05-30 Q13395 TARB1_HUMAN TARBP1 tRNA (guanosine(18)-2'-O)-methyltransferase TARBP1 1621 181.7 1 2.1.1.34 0 0 1 1 5 2007-01-23 Q13425 SNTB2_HUMAN SNTB2 Beta-2-syntrophin 540 58 16 Membrane; Cytoplasmic vesicle; Cell junction; Cytoplasm 0 0 1 1 5 2002-10-10 Q13636 RAB31_HUMAN RAB31 Ras-related protein Rab-31 195 21.7 18 3.6.5.2 Golgi apparatus; Early endosome; Cytoplasmic vesicle 0 0 1 1 5 1997-11-01 Q14134 TRI29_HUMAN TRIM29 Tripartite motif-containing protein 29 588 65.8 11 Cytoplasm; Lysosome 0 0 1 1 5 2004-11-23 Q14194 DPYL1_HUMAN CRMP1 Dihydropyrimidinase-related protein 1 572 62.2 4 Cytoplasm; Cell projection; Perikaryon 0 0 1 1 5 1998-07-15 Q14554 PDIA5_HUMAN PDIA5 Protein disulfide-isomerase A5 519 59.6 3 5.3.4.1 Endoplasmic reticulum lumen 0 0 1 1 5 1997-11-01 Q14766 LTBP1_HUMAN LTBP1 Latent-transforming growth factor beta-binding protein 1 1721 186.8 2 Secreted 0 1 Cutis laxa, autosomal recessive, 2E 1 1 5 2002-03-05 Q14966 ZN638_HUMAN ZNF638 Zinc finger protein 638 1978 220.6 2 Nucleus speckle 0 0 1 1 5 2005-07-19 Q14CS0 UBX2B_HUMAN UBXN2B UBX domain-containing protein 2B 331 37.1 8 Nucleus; Cytoplasm; Endoplasmic reticulum; Golgi apparatus 0 0 1 1 5 2008-01-15 Q15124 PGM5_HUMAN PGM5 Phosphoglucomutase-like protein 5 567 62.2 9 Cell junction; Cytoplasm; Cell membrane 0 0 1 1 5 2001-01-24 Q15560 TCEA2_HUMAN TCEA2 Transcription elongation factor A protein 2 299 33.6 20 Nucleus 0 0 1 1 5 2003-02-12 Q15822 ACHA2_HUMAN CHRNA2 Neuronal acetylcholine receptor subunit alpha-2 529 59.8 8 Synaptic cell membrane; Cell membrane 4 2 Epilepsy, nocturnal frontal lobe, 4; Seizures, benign familial infantile, 6 1 1 5 1997-11-01 Q15833 STXB2_HUMAN STXBP2 Syntaxin-binding protein 2 593 66.5 19 Cell membrane; Cytolytic granule membrane 0 1 Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 1 1 5 1997-11-01 Q15853 USF2_HUMAN USF2 Upstream stimulatory factor 2 346 37 19 Nucleus 0 0 1 1 5 1997-11-01 Q16385 SSX2_HUMAN SSX2 Protein SSX2 188 21.6 X Nucleus 0 0 1 1 5 1998-12-15 Q16633 OBF1_HUMAN POU2AF1 POU domain class 2-associating factor 1 256 27.4 11 Nucleus 0 0 1 1 5 1997-11-01 Q16671 AMHR2_HUMAN AMHR2 Anti-Muellerian hormone type-2 receptor 573 62.8 12 2.7.11.30 Membrane 1 1 Persistent Muellerian duct syndrome 2 1 1 5 2000-12-01 Q16690 DUS5_HUMAN DUSP5 Dual specificity protein phosphatase 5 384 42 10 3.1.3.16, 3.1.3.48 Nucleus 0 0 1 1 5 1997-11-01 Q16829 DUS7_HUMAN DUSP7 Dual specificity protein phosphatase 7 419 45 3 3.1.3.16, 3.1.3.48 Cytoplasm 0 0 1 1 5 1997-11-01 Q16854 DGUOK_HUMAN DGUOK Deoxyguanosine kinase, mitochondrial 277 32.1 2 2.7.1.113 Mitochondrion 0 3 Mitochondrial DNA depletion syndrome 3; Portal hypertension, non-cirrhotic, 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 1 1 5 1997-11-01 Q1MX18 INSC_HUMAN INSC Protein inscuteable homolog 579 63.5 11 Cytoplasm 0 0 1 1 5 2006-10-17 Q2M1K9 ZN423_HUMAN ZNF423 Zinc finger protein 423 1284 144.6 16 Nucleus 0 2 Nephronophthisis 14; Joubert syndrome 19 1 1 5 2007-10-23 Q2NKX8 ERC6L_HUMAN ERCC6L DNA excision repair protein ERCC-6-like 1250 141.1 X 3.6.4.12 Chromosome 0 0 1 1 5 2008-04-08 Q32MQ0 ZN750_HUMAN ZNF750 Zinc finger protein 750 723 77.4 17 Nucleus 0 1 Seborrhea-like dermatitis with psoriasiform elements 1 1 5 2006-07-25 Q32MZ4 LRRF1_HUMAN LRRFIP1 Leucine-rich repeat flightless-interacting protein 1 808 89.3 2 Nucleus; Cytoplasm 0 0 1 1 5 2006-09-05 Q3MIR4 CC50B_HUMAN CDC50B Cell cycle control protein 50B 351 38.9 14 Cell membrane; Endoplasmic reticulum membrane 2 0 1 1 5 2006-06-27 Q4KMQ1 TPRN_HUMAN TPRN Taperin 711 75.6 9 Cell projection; Nucleus; Cytoplasm 0 1 Deafness, autosomal recessive, 79 1 1 5 2008-04-29 Q53H12 AGK_HUMAN AGK Acylglycerol kinase, mitochondrial 422 47.1 7 2.7.1.107, 2.7.1.138, 2.7.1.94 Mitochondrion inner membrane; Mitochondrion intermembrane space 0 2 Mitochondrial DNA depletion syndrome 10; Cataract 38 1 1 5 2006-10-17 Q53QZ3 RHG15_HUMAN ARHGAP15 Rho GTPase-activating protein 15 475 54.5 2 Cytoplasm; Membrane 0 0 1 1 5 2008-02-05 Q58A45 PAN3_HUMAN PAN3 PAN2-PAN3 deadenylation complex subunit PAN3 887 95.6 13 Cytoplasm 0 0 1 1 5 2007-03-20 Q58WW2 DCAF6_HUMAN DCAF6 DDB1- and CUL4-associated factor 6 860 96.3 1 Nucleus 0 0 1 1 5 2007-09-11 Q5GH76 XKR4_HUMAN XKR4 XK-related protein 4 650 71.5 8 Cell membrane 8 0 1 1 5 2005-10-11 Q5SY16 NOL9_HUMAN NOL9 Polynucleotide 5'-hydroxyl-kinase NOL9 702 79.3 1 2.7.1.78 Nucleus 0 0 1 1 5 2005-08-30 Q5T2D3 OTUD3_HUMAN OTUD3 OTU domain-containing protein 3 398 45.1 1 3.4.19.12 Cytoplasm; Nucleus 0 0 1 1 5 2005-08-30 Q5UIP0 RIF1_HUMAN RIF1 Telomere-associated protein RIF1 2472 274.5 2 Nucleus; Chromosome; Cytoplasm 0 0 1 1 5 2005-07-05 Q5VV43 K0319_HUMAN KIAA0319 Dyslexia-associated protein KIAA0319 1072 117.8 6 Cell membrane; Early endosome membrane 1 1 Dyslexia 2 1 1 5 2005-11-22 Q5W111 SPRY7_HUMAN SPRYD7 SPRY domain-containing protein 7 196 21.7 13 0 0 1 1 5 2006-06-27 Q68CZ1 FTM_HUMAN RPGRIP1L Protein fantom 1315 151.2 16 Cytoplasm; Cell junction 0 3 Joubert syndrome 7; Meckel syndrome 5; COACH syndrome 3 1 1 5 2007-06-12 Q68CZ2 TENS3_HUMAN TNS3 Tensin-3 1445 155.3 7 3.1.3.- Cell junction; Cell projection 0 0 1 1 5 2007-07-24 Q69YN2 C19L1_HUMAN CWF19L1 Pre-mRNA splicing factor CWF19L1 538 60.6 10 Nucleus 0 1 Spinocerebellar ataxia, autosomal recessive, 17 1 1 5 2008-01-15 Q6B8I1 DS13A_HUMAN DUSP13A Dual specificity protein phosphatase 13A 188 20.7 10 3.1.3.16, 3.1.3.48 Cytoplasm 0 0 1 1 5 2009-09-01 Q6IA69 NADE_HUMAN NADSYN1 Glutamine-dependent NAD(+) synthetase 706 79.3 11 6.3.5.1 0 1 Vertebral, cardiac, renal, and limb defects syndrome 3 1 1 5 2006-05-30 Q6IN85 P4R3A_HUMAN PPP4R3A Serine/threonine-protein phosphatase 4 regulatory subunit 3A 833 95.4 14 Cytoplasm; Nucleus 0 0 1 1 5 2006-10-31 Q6ISB3 GRHL2_HUMAN GRHL2 Grainyhead-like protein 2 homolog 625 71.1 8 Nucleus; Membrane 0 3 Deafness, autosomal dominant, 28; Ectodermal dysplasia/short stature syndrome; Corneal dystrophy, posterior polymorphous, 4 1 1 5 2006-03-21 Q6NUJ5 PWP2B_HUMAN PWWP2B PWWP domain-containing protein 2B 590 64 10 0 0 1 1 5 2006-06-27 Q6P4I2 WDR73_HUMAN WDR73 Integrator complex assembly factor WDR73 378 41.7 15 Cytoplasm; Cleavage furrow 0 1 Galloway-Mowat syndrome 1 1 1 5 2007-10-23 Q6PI48 SYDM_HUMAN DARS2 Aspartate--tRNA ligase, mitochondrial 645 73.6 1 6.1.1.12 Mitochondrion matrix; Mitochondrion membrane 0 2 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation; Charcot-Marie-Tooth disease, axonal, type 2LL 1 1 5 2006-10-03 Q6PRD7 CEMP1_HUMAN CEMP1 Cementoblastoma-derived protein 1 247 26 16 Cytoplasm; Nucleus 0 0 1 1 5 2006-12-12 Q6PXP3 GTR7_HUMAN SLC2A7 Solute carrier family 2, facilitated glucose transporter member 7 512 55.7 1 Cell membrane; Apical cell membrane 12 0 1 1 5 2008-02-05 Q6TDU7 DNAI7_HUMAN DNAI7 Dynein axonemal intermediate chain 7 716 83.2 12 Cell projection; Cytoplasm 0 0 1 1 5 2008-04-29 Q6VMQ6 MCAF1_HUMAN ATF7IP Activating transcription factor 7-interacting protein 1 1270 136.4 12 Nucleus 0 0 1 1 5 2007-04-03 Q6ZMR5 TM11A_HUMAN TMPRSS11A Transmembrane protease serine 11A 418 47.2 4 3.4.21.- Membrane 1 0 1 1 5 2007-09-11 Q70EL1 UBP54_HUMAN USP54 Ubiquitin carboxyl-terminal hydrolase 54 1684 187.4 10 3.4.19.12 0 0 1 1 5 2006-09-19 Q7L5Y9 MAEA_HUMAN MAEA E3 ubiquitin-protein transferase MAEA 396 45.3 4 2.3.2.27 Cytoplasm; Nucleus; Nucleus matrix; Cell membrane 0 0 1 1 5 2007-05-01 Q7LBE3 S26A9_HUMAN SLC26A9 Solute carrier family 26 member 9 791 87 1 Cell membrane; Endomembrane system 14 0 1 1 5 2008-03-18 Q7Z5W3 BN3D2_HUMAN BCDIN3D RNA 5'-monophosphate methyltransferase 292 33.2 12 2.1.1.- Cytoplasm 0 0 1 1 5 2007-05-29 Q7Z624 CMKMT_HUMAN CAMKMT Calmodulin-lysine N-methyltransferase 323 36.1 2 2.1.1.60 Cytoplasm; Nucleus 0 1 Hypotonia-cystinuria syndrome 1 1 5 2007-09-11 Q7Z6J2 GRASP_HUMAN TAMALIN Protein TAMALIN 395 42.6 12 Cytoplasm; Cell membrane; Postsynaptic cell membrane 0 0 1 1 5 2005-09-27 Q86SE9 PCGF5_HUMAN PCGF5 Polycomb group RING finger protein 5 256 29.7 10 Nucleus 0 0 1 1 5 2007-02-20 Q86T82 UBP37_HUMAN USP37 Ubiquitin carboxyl-terminal hydrolase 37 979 110.2 2 3.4.19.12 Nucleus; Chromosome 0 0 1 1 5 2003-10-10 Q86V97 KBTB6_HUMAN KBTBD6 Kelch repeat and BTB domain-containing protein 6 674 76.1 13 Cytoplasm; Nucleus 0 0 1 1 5 2004-03-15 Q86VK4 ZN410_HUMAN ZNF410 Zinc finger protein 410 478 52.1 14 Nucleus; Chromosome 0 0 1 1 5 2003-10-03 Q86VM9 ZCH18_HUMAN ZC3H18 Zinc finger CCCH domain-containing protein 18 953 106.4 16 Nucleus 0 0 1 1 5 2007-11-13 Q86VW2 ARHGP_HUMAN ARHGEF25 Rho guanine nucleotide exchange factor 25 580 63.8 12 Cell membrane; Cytoplasm 0 0 1 1 5 2008-02-26 Q86W26 NAL10_HUMAN NLRP10 NACHT, LRR and PYD domains-containing protein 10 655 75 11 Cytoplasm; Cell membrane 0 0 1 1 5 2004-04-13 Q8IUR7 ARMC8_HUMAN ARMC8 Armadillo repeat-containing protein 8 673 75.5 3 Nucleus; Cytoplasm 0 0 1 1 5 2007-04-17 Q8IVI9 NOSTN_HUMAN NOSTRIN Nostrin 506 57.7 2 Cell membrane; Cytoplasmic vesicle; Cytoplasm 0 0 1 1 5 2007-05-29 Q8IWJ2 GCC2_HUMAN GCC2 GRIP and coiled-coil domain-containing protein 2 1684 195.9 2 Cytoplasm; Golgi apparatus 0 0 1 1 5 2003-07-03 Q8IX90 SKA3_HUMAN SKA3 Spindle and kinetochore-associated protein 3 412 46.4 13 Cytoplasm; Chromosome 0 0 1 1 5 2005-08-16 Q8IXI1 MIRO2_HUMAN RHOT2 Mitochondrial Rho GTPase 2 618 68.1 16 3.6.5.- Mitochondrion outer membrane 1 0 1 1 5 2006-06-13 Q8IY57 YAF2_HUMAN YAF2 YY1-associated factor 2 180 19.9 12 Nucleus 0 0 1 1 5 2003-10-31 Q8IYB1 M21D2_HUMAN MB21D2 Nucleotidyltransferase MB21D2 491 55.8 3 2.7.7.- 0 0 1 1 5 2006-06-13 Q8IYB5 SMAP1_HUMAN SMAP1 Stromal membrane-associated protein 1 467 50.4 6 Cell membrane 0 0 1 1 5 2006-05-16 Q8IZH2 XRN1_HUMAN XRN1 5'-3' exoribonuclease 1 1706 194.1 3 3.1.13.- Cytoplasm 0 0 1 1 5 2005-12-20 Q8N149 LIRA2_HUMAN LILRA2 Leukocyte immunoglobulin-like receptor subfamily A member 2 483 53 19 Cell membrane 1 0 1 1 5 2003-10-03 Q8N2K1 UB2J2_HUMAN UBE2J2 Ubiquitin-conjugating enzyme E2 J2 259 28.9 1 2.3.2.23 Endoplasmic reticulum membrane 1 0 1 1 5 2004-09-13 Q8N2Y8 RUSC2_HUMAN RUSC2 AP-4 complex accessory subunit RUSC2 1516 161.2 9 Cytoplasm; Cell membrane 0 1 Intellectual developmental disorder, autosomal recessive 61 1 1 5 2004-07-19 Q8N4X5 AF1L2_HUMAN AFAP1L2 Actin filament-associated protein 1-like 2 818 91.3 10 Cytoplasm 0 0 1 1 5 2005-06-21 Q8N608 DPP10_HUMAN DPP10 Inactive dipeptidyl peptidase 10 796 90.9 2 Cell membrane 1 1 Asthma 1 1 5 2005-06-07 Q8N684 CPSF7_HUMAN CPSF7 Cleavage and polyadenylation specificity factor subunit 7 471 52.1 11 Nucleus; Cytoplasm 0 0 1 1 5 2006-02-07 Q8N6R0 EFNMT_HUMAN METTL13 eEF1A lysine and N-terminal methyltransferase 699 78.8 1 Cytoplasm; Nucleus; Mitochondrion 0 0 1 1 5 2005-06-07 Q8N9I0 SYT2_HUMAN SYT2 Synaptotagmin-2 419 46.9 1 Cytoplasmic vesicle; Cytoplasm 1 2 Myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant; Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 1 1 5 2003-07-19 Q8N9N2 ASCC1_HUMAN ASCC1 Activating signal cointegrator 1 complex subunit 1 400 45.5 10 Nucleus; Nucleus speckle 0 2 Barrett esophagus; Spinal muscular atrophy with congenital bone fractures 2 1 1 5 2004-07-19 Q8NA29 NLS1_HUMAN MFSD2A Sodium-dependent lysophosphatidylcholine symporter 1 543 60.2 1 Cell membrane; Endoplasmic reticulum membrane 12 1 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 1 1 5 2007-01-23 Q8ND56 LS14A_HUMAN LSM14A Protein LSM14 homolog A 463 50.5 19 Cytoplasm 0 0 1 1 5 2005-08-02 Q8NEY8 PPHLN_HUMAN PPHLN1 Periphilin-1 458 52.7 12 Nucleus; Cytoplasm; Chromosome 0 0 1 1 5 2004-04-13 Q8NFP7 NUD10_HUMAN NUDT10 Diphosphoinositol polyphosphate phosphohydrolase 3-alpha 164 18.5 X 3.6.1.52 Cytoplasm 0 0 1 1 5 2005-07-05 Q8TAC2 JOS2_HUMAN JOSD2 Josephin-2 188 20.8 19 3.4.19.12 Cytoplasm 0 0 1 1 5 2003-02-28 Q8TBC3 SHKB1_HUMAN SHKBP1 SH3KBP1-binding protein 1 707 76.3 19 Lysosome 0 0 1 1 5 2007-10-23 Q8TBF4 ZCRB1_HUMAN ZCRB1 Zinc finger CCHC-type and RNA-binding motif-containing protein 1 217 24.6 12 Nucleus 0 0 1 1 5 2006-10-17 Q8TBZ6 TM10A_HUMAN TRMT10A tRNA methyltransferase 10 homolog A 339 39.7 4 2.1.1.221 Nucleus 0 1 Microcephaly, short stature, and impaired glucose metabolism 1 1 1 5 2007-11-13 Q8TCG1 CIP2A_HUMAN CIP2A Protein CIP2A 905 102.2 3 Cytoplasm; Chromosome 0 0 1 1 5 2007-05-15 Q8TCG5 CPT1C_HUMAN CPT1C Palmitoyl thioesterase CPT1C 803 91 19 3.1.2.22 Cell projection; Endoplasmic reticulum membrane 2 1 Spastic paraplegia 73, autosomal dominant 1 1 5 2004-07-05 Q8TE73 DYH5_HUMAN DNAH5 Dynein axonemal heavy chain 5 4624 529 5 Cytoplasm 0 1 Ciliary dyskinesia, primary, 3 1 1 5 2004-08-16 Q8TE76 MORC4_HUMAN MORC4 MORC family CW-type zinc finger protein 4 937 106.3 X Nucleus 0 0 1 1 5 2004-07-19 Q8TEB7 RN128_HUMAN RNF128 E3 ubiquitin-protein ligase RNF128 428 46.5 X 2.3.2.27 Cytoplasm; Endomembrane system 1 0 1 1 5 2006-11-28 Q8TEB9 RHBL4_HUMAN RHBDD1 Rhomboid-related protein 4 315 35.8 2 3.4.21.105 Endoplasmic reticulum membrane; Mitochondrion membrane 4 0 1 1 5 2006-10-31 Q8TEW0 PARD3_HUMAN PARD3 Partitioning defective 3 homolog 1356 151.4 10 Cytoplasm; Endomembrane system; Cell junction; Cell membrane 0 1 Neural tube defects 1 1 5 2003-05-16 Q8TF09 DLRB2_HUMAN DYNLRB2 Dynein light chain roadblock-type 2 96 10.9 16 Cytoplasm 0 0 1 1 5 2003-04-23 Q8WTQ1 D104A_HUMAN DEFB104A Beta-defensin 104 72 8.5 8 Secreted 0 0 1 1 5 2002-05-27 Q8WU79 SMAP2_HUMAN SMAP2 Stromal membrane-associated protein 2 429 46.8 1 Cytoplasm 0 0 1 1 5 2006-05-16 Q8WV41 SNX33_HUMAN SNX33 Sorting nexin-33 574 65.3 15 Cytoplasm; Membrane; Cytoplasmic vesicle membrane 0 0 1 1 5 2007-12-04 Q8WVK7 SKA2_HUMAN SKA2 Spindle and kinetochore-associated protein 2 121 14.2 17 Cytoplasm; Chromosome 0 0 1 1 5 2006-12-12 Q8WVV4 POF1B_HUMAN POF1B Protein POF1B 589 68.1 X Cell junction 0 1 Premature ovarian failure 2B 1 1 5 2006-10-17 Q8WVV9 HNRLL_HUMAN HNRNPLL Heterogeneous nuclear ribonucleoprotein L-like 542 60.1 2 0 0 1 1 5 2005-03-29 Q8WXD0 RXFP2_HUMAN RXFP2 Relaxin receptor 2 754 86.5 13 Cell membrane 7 1 Cryptorchidism 1 1 5 2002-06-06 Q8WXE9 STON2_HUMAN STON2 Stonin-2 905 101.2 14 Cytoplasm; Membrane; Synapse 0 0 1 1 5 2003-08-15 Q8WYN0 ATG4A_HUMAN ATG4A Cysteine protease ATG4A 398 45.4 X 3.4.22.- Cytoplasm 0 0 1 1 5 2005-03-15 Q92520 FAM3C_HUMAN FAM3C Protein FAM3C 227 24.7 7 Secreted; Cytoplasmic vesicle 0 0 1 1 5 1998-07-15 Q92609 TBCD5_HUMAN TBC1D5 TBC1 domain family member 5 795 89 3 Endosome membrane; Cytoplasmic vesicle 0 0 1 1 5 1997-11-01 Q92786 PROX1_HUMAN PROX1 Prospero homeobox protein 1 737 83.2 1 Nucleus 0 0 1 1 5 1998-07-15 Q92817 EVPL_HUMAN EVPL Envoplakin 2033 231.6 17 Cell junction; Cornified envelope; Cytoplasm 0 0 1 1 5 2001-06-01 Q92985 IRF7_HUMAN IRF7 Interferon regulatory factor 7 503 54.3 11 Nucleus; Cytoplasm 0 1 Immunodeficiency 39, susceptibility to viral infections 1 1 5 1997-11-01 Q969J5 I22R2_HUMAN IL22RA2 Interleukin-22 receptor subunit alpha-2 263 30.6 6 Secreted 0 0 1 1 5 2005-03-15 Q96A33 CCD47_HUMAN CCDC47 PAT complex subunit CCDC47 483 55.9 17 Endoplasmic reticulum membrane; Rough endoplasmic reticulum membrane 1 1 Trichohepatoneurodevelopmental syndrome 1 1 5 2006-05-16 Q96A58 RERG_HUMAN RERG Ras-related and estrogen-regulated growth inhibitor 199 22.6 12 3.6.5.2 Cytoplasm 0 0 1 1 5 2005-12-20 Q96A65 EXOC4_HUMAN EXOC4 Exocyst complex component 4 974 110.5 7 Midbody; Cell projection; Cytoplasm 0 0 1 1 5 2002-10-25 Q96BY2 MOAP1_HUMAN MOAP1 Modulator of apoptosis 1 351 39.5 14 Cytoplasm; Mitochondrion outer membrane; Extracellular vesicle membrane 0 0 1 1 5 2003-10-24 Q96C00 ZBTB9_HUMAN ZBTB9 Zinc finger and BTB domain-containing protein 9 473 50.6 6 Nucleus 0 0 1 1 5 2004-04-26 Q96C03 MID49_HUMAN MIEF2 Mitochondrial dynamics protein MID49 454 49.3 17 Mitochondrion outer membrane 1 1 Combined oxidative phosphorylation deficiency 49 1 1 5 2007-11-13 Q96CS3 FAF2_HUMAN FAF2 FAS-associated factor 2 445 52.6 5 Cytoplasm; Lipid droplet; Endoplasmic reticulum 0 0 1 1 5 2006-06-27 Q96DU3 SLAF6_HUMAN SLAMF6 SLAM family member 6 332 37.3 1 Cell membrane 1 0 1 1 5 2004-05-24 Q96DU7 IP3KC_HUMAN ITPKC Inositol-trisphosphate 3-kinase C 683 75.2 19 2.7.1.127 Nucleus; Cytoplasm 0 0 1 1 5 2006-05-02 Q96DZ5 CLIP3_HUMAN CLIP3 CAP-Gly domain-containing linker protein 3 547 59.6 19 Cell membrane; Cytoplasm; Golgi apparatus 0 0 1 1 5 2006-01-10 Q96EM0 T3HPD_HUMAN L3HYPDH Trans-3-hydroxy-L-proline dehydratase 354 38.1 14 4.2.1.77 0 0 1 1 5 2007-05-29 Q96F15 GIMA5_HUMAN GIMAP5 GTPase IMAP family member 5 307 34.8 7 Lysosome membrane; Endosome; Endosome membrane 1 1 Portal hypertension, non-cirrhotic, 2 1 1 5 2003-11-14 Q96FX2 DPH3_HUMAN DPH3 Diphthamide biosynthesis protein 3 82 9.2 3 Cytoplasm; Nucleus 0 0 1 1 5 2003-04-04 Q96G97 BSCL2_HUMAN BSCL2 Seipin 398 44.4 11 Endoplasmic reticulum membrane; Lipid droplet 2 4 Lipodystrophy, congenital generalized, 2; Spastic paraplegia 17, autosomal dominant; Neuronopathy, distal hereditary motor, autosomal dominant 13; Encephalopathy, progressive, with or without lipodystrophy 1 1 5 2005-04-26 Q96GX9 MTNB_HUMAN APIP Methylthioribulose-1-phosphate dehydratase 242 27.1 11 4.2.1.109 Cytoplasm 0 0 1 1 5 2006-05-30 Q96HA1 P121A_HUMAN POM121 Nuclear envelope pore membrane protein POM 121 1249 127.7 7 Nucleus; Nucleus membrane; Endoplasmic reticulum membrane 1 0 1 1 5 2008-09-02 Q96HR8 NAF1_HUMAN NAF1 H/ACA ribonucleoprotein complex non-core subunit NAF1 494 53.7 4 Cytoplasm; Nucleus 0 1 Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 7 1 1 5 2008-01-15 Q96IU4 ABHEB_HUMAN ABHD14B Putative protein-lysine deacylase ABHD14B 210 22.3 3 2.3.1.- Cytoplasm; Nucleus 0 0 1 1 5 2003-08-22 Q96JN8 NEUL4_HUMAN NEURL4 Neuralized-like protein 4 1562 166.9 17 Cytoplasm 0 0 1 1 5 2007-08-21 Q96MC2 DRC1_HUMAN DRC1 Dynein regulatory complex protein 1 740 87.1 2 Cytoplasm 0 2 Ciliary dyskinesia, primary, 21; Spermatogenic failure 80 1 1 5 2007-02-20 Q96MF7 NSE2_HUMAN NSMCE2 E3 SUMO-protein ligase NSE2 247 27.9 8 2.3.2.- Nucleus; Chromosome 0 1 Seckel syndrome 10 1 1 5 2007-01-09 Q96MT7 CFA44_HUMAN CFAP44 Cilia- and flagella-associated protein 44 1854 213.9 3 Cell projection; Cytoplasm 0 1 Spermatogenic failure 20 1 1 5 2007-10-02 Q96NX5 KCC1G_HUMAN CAMK1G Calcium/calmodulin-dependent protein kinase type 1G 476 53.1 1 2.7.11.17 Cytoplasm; Golgi apparatus membrane; Cell membrane 0 0 1 1 5 2004-12-07 Q96RU3 FNBP1_HUMAN FNBP1 Formin-binding protein 1 617 71.3 9 Cytoplasm; Lysosome; Cytoplasmic vesicle; Cell membrane; Membrane 0 0 1 1 5 2006-11-28 Q96S42 NODAL_HUMAN NODAL Nodal homolog 347 39.6 10 Secreted 0 1 Heterotaxy, visceral, 5, autosomal 1 1 5 2003-01-10 Q99489 OXDD_HUMAN DDO D-aspartate oxidase 341 37.5 6 1.4.3.1 Peroxisome matrix; Cytoplasm 0 0 1 1 5 1997-11-01 Q99592 ZBT18_HUMAN ZBTB18 Zinc finger and BTB domain-containing protein 18 522 58.4 1 Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 22 1 1 5 2002-02-21 Q99616 CCL13_HUMAN CCL13 C-C motif chemokine 13 98 11 17 Secreted 0 0 1 1 5 1998-07-15 Q99633 PRP18_HUMAN PRPF18 Pre-mRNA-splicing factor 18 342 39.9 10 Nucleus speckle 0 0 1 1 5 2003-09-26 Q99871 HAUS7_HUMAN HAUS7 HAUS augmin-like complex subunit 7 358 39.8 X Cytoplasm 0 0 1 1 5 1997-11-01 Q99878 H2A1J_HUMAN H2AC14 Histone H2A type 1-J 128 13.9 6 Nucleus; Chromosome 0 0 1 1 5 2001-01-24 Q99895 CTRC_HUMAN CTRC Chymotrypsin-C 268 29.5 1 3.4.21.2 0 1 Pancreatitis, hereditary 1 1 5 2001-06-01 Q9BQ04 RBM4B_HUMAN RBM4B RNA-binding protein 4B 359 40.2 11 Nucleus 0 0 1 1 5 2005-04-12 Q9BQ24 ZFY21_HUMAN ZFYVE21 Zinc finger FYVE domain-containing protein 21 234 26.5 14 Cell junction; Cytoplasmic vesicle; Endosome 0 0 1 1 5 2005-05-24 Q9BQ95 ECSIT_HUMAN ECSIT Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial 431 49.1 19 Cytoplasm; Nucleus; Mitochondrion 0 0 1 1 5 2007-06-26 Q9BR01 ST4A1_HUMAN SULT4A1 Sulfotransferase 4A1 284 33.1 22 2.8.2.- Cytoplasm 0 0 1 1 5 2002-08-02 Q9BRT3 MIEN1_HUMAN MIEN1 Migration and invasion enhancer 1 115 12.4 17 Cytoplasm; Cell membrane 0 0 1 1 5 2006-12-12 Q9BSW2 EFC4B_HUMAN CRACR2A EF-hand calcium-binding domain-containing protein 4B 731 83.2 12 Cytoplasm 0 0 1 1 5 2007-04-03 Q9BT43 RPC7L_HUMAN POLR3GL DNA-directed RNA polymerase III subunit RPC7-like 218 25.3 1 Nucleus 0 1 Short stature, oligodontia, dysmorphic facies, and motor delay 1 1 5 2007-11-13 Q9BVG8 KIFC3_HUMAN KIFC3 Kinesin-like protein KIFC3 833 92.8 16 Cell junction; Cytoplasm; Cytoplasmic vesicle membrane 0 0 1 1 5 2003-08-15 Q9BW62 KATL1_HUMAN KATNAL1 Katanin p60 ATPase-containing subunit A-like 1 490 55.4 13 5.6.1.1 Cytoplasm 0 0 1 1 5 2005-03-01 Q9BWT3 PAPOG_HUMAN PAPOLG Poly(A) polymerase gamma 736 82.8 2 2.7.7.19 Nucleus 0 0 1 1 5 2001-09-26 Q9BX70 BTBD2_HUMAN BTBD2 BTB/POZ domain-containing protein 2 525 55.9 19 Cytoplasm 0 0 1 1 5 2002-01-23 Q9BXF9 TEKT3_HUMAN TEKT3 Tektin-3 490 56.6 17 Cytoplasm; Cytoplasmic vesicle 0 1 Spermatogenic failure 81 1 1 5 2002-11-08 Q9BXR5 TLR10_HUMAN TLR10 Toll-like receptor 10 811 94.6 4 Membrane 1 0 1 1 5 2002-01-31 Q9BZK7 TBL1R_HUMAN TBL1XR1 F-box-like/WD repeat-containing protein TBL1XR1 514 55.6 3 Nucleus 0 2 Pierpont syndrome; Intellectual developmental disorder, autosomal dominant 41 1 1 5 2002-09-19 Q9GZM8 NDEL1_HUMAN NDEL1 Nuclear distribution protein nudE-like 1 345 38.4 17 Cytoplasm; Chromosome 0 0 1 1 5 2006-06-13 Q9H069 DRC3_HUMAN DRC3 Dynein regulatory complex subunit 3 523 61.1 17 Cytoplasm; Cell projection 0 0 1 1 5 2006-03-21 Q9H0W5 CCDC8_HUMAN CCDC8 Coiled-coil domain-containing protein 8 538 59.4 19 Cytoplasm 0 1 3M syndrome 3 1 1 5 2004-07-19 Q9H1B7 I2BPL_HUMAN IRF2BPL Probable E3 ubiquitin-protein ligase IRF2BPL 796 82.7 14 2.3.2.27 Nucleus 0 1 Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 1 5 2003-08-29 Q9H1J5 WNT8A_HUMAN WNT8A Protein Wnt-8a 351 38.8 5 Secreted 0 0 1 1 5 2001-06-20 Q9H269 VPS16_HUMAN VPS16 Vacuolar protein sorting-associated protein 16 homolog 839 94.7 20 Late endosome membrane; Lysosome membrane; Early endosome; Cytoplasmic vesicle 0 1 Dystonia 30 1 1 5 2002-09-19 Q9H2B2 SYT4_HUMAN SYT4 Synaptotagmin-4 425 48 18 Cytoplasmic vesicle 1 0 1 1 5 2001-10-18 Q9H2E6 SEM6A_HUMAN SEMA6A Semaphorin-6A 1030 114.4 5 Cell membrane 1 0 1 1 5 2003-04-11 Q9H2M9 RBGPR_HUMAN RAB3GAP2 Rab3 GTPase-activating protein non-catalytic subunit 1393 156 1 Cytoplasm; Endoplasmic reticulum 0 2 Martsolf syndrome 1; Warburg micro syndrome 2 1 1 5 2005-04-12 Q9H4B6 SAV1_HUMAN SAV1 Protein salvador homolog 1 383 44.6 14 Nucleus; Cytoplasm 0 0 1 1 5 2003-07-11 Q9H6D7 HAUS4_HUMAN HAUS4 HAUS augmin-like complex subunit 4 363 42.4 14 Cytoplasm 0 0 1 1 5 2003-07-25 Q9H6L4 ARMC7_HUMAN ARMC7 Armadillo repeat-containing protein 7 198 21.9 17 0 0 1 1 5 2006-06-27 Q9H6Q3 SLAP2_HUMAN SLA2 Src-like-adapter 2 261 28.6 20 Cytoplasm 0 0 1 1 5 2003-04-23 Q9H7P6 MB12B_HUMAN MVB12B Multivesicular body subunit 12B 319 35.6 9 Endosome; Late endosome membrane 0 0 1 1 5 2006-09-05 Q9H871 RMD5A_HUMAN RMND5A E3 ubiquitin-protein transferase RMND5A 391 44 2 2.3.2.27 Nucleus; Cytoplasm 0 0 1 1 5 2007-01-23 Q9H8W5 TRI45_HUMAN TRIM45 E3 ubiquitin-protein ligase TRIM45 580 64.4 1 2.3.2.27 Cytoplasm; Nucleus 0 0 1 1 5 2004-11-23 Q9HAU0 PKHA5_HUMAN PLEKHA5 Pleckstrin homology domain-containing family A member 5 1116 127.5 12 Cytoplasm 0 0 1 1 5 2004-03-29 Q9HB75 PIDD1_HUMAN PIDD1 p53-induced death domain-containing protein 1 910 99.7 11 3.4.21.- Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 1 1 5 2006-07-11 Q9HBB8 CDHR5_HUMAN CDHR5 Cadherin-related family member 5 845 88.2 11 Apical cell membrane; Cell projection 1 0 1 1 5 2004-03-15 Q9HC36 MRM3_HUMAN MRM3 rRNA methyltransferase 3, mitochondrial 420 47 17 2.1.1.- Mitochondrion 0 0 1 1 5 2007-11-13 Q9HCK5 AGO4_HUMAN AGO4 Protein argonaute-4 861 97.1 1 Cytoplasm 0 0 1 1 5 2003-11-14 Q9HCP0 KC1G1_HUMAN CSNK1G1 Casein kinase I isoform gamma-1 422 48.5 15 2.7.11.1 Cytoplasm 0 0 1 1 5 2001-10-18 Q9HCU5 SEC12_HUMAN PREB Guanine nucleotide-exchange factor SEC12 417 45.5 2 Endoplasmic reticulum membrane; Nucleus 1 0 1 1 5 2001-10-24 Q9HD43 PTPRH_HUMAN PTPRH Receptor-type tyrosine-protein phosphatase H 1115 122.4 19 3.1.3.48 Cell projection; Apical cell membrane; Cytoplasm 1 0 1 1 5 2008-02-26 Q9NP61 ARFG3_HUMAN ARFGAP3 ADP-ribosylation factor GTPase-activating protein 3 516 56.9 22 Golgi apparatus membrane; Cytoplasm 0 0 1 1 5 2002-05-27 Q9NPZ5 B3GA2_HUMAN B3GAT2 Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 323 36.9 6 2.4.1.135 Golgi apparatus membrane 1 0 1 1 5 2001-06-01 Q9NQ40 S52A3_HUMAN SLC52A3 Solute carrier family 52, riboflavin transporter, member 3 469 50.8 20 Apical cell membrane; Cell membrane 11 2 Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease 1 1 5 2003-01-10 Q9NQ88 TIGAR_HUMAN TIGAR Fructose-2,6-bisphosphatase TIGAR 270 30.1 12 3.1.3.46 Cytoplasm; Nucleus; Mitochondrion 0 0 1 1 5 2005-12-06 Q9NQW7 XPP1_HUMAN XPNPEP1 Xaa-Pro aminopeptidase 1 623 69.9 10 3.4.11.9 Cytoplasm 0 0 1 1 5 2005-07-05 Q9NQX1 PRDM5_HUMAN PRDM5 PR domain zinc finger protein 5 630 73.1 4 2.1.1.- Nucleus 0 1 Brittle cornea syndrome 2 1 1 5 2001-11-16 Q9NR61 DLL4_HUMAN DLL4 Delta-like protein 4 685 74.6 15 Cell membrane 1 1 Adams-Oliver syndrome 6 1 1 5 2001-04-27 Q9NRM7 LATS2_HUMAN LATS2 Serine/threonine-protein kinase LATS2 1088 120.1 13 2.7.11.1 Cytoplasm; Nucleus 0 0 1 1 5 2004-09-27 Q9NRR6 INP5E_HUMAN INPP5E Phosphatidylinositol polyphosphate 5-phosphatase type IV 644 70.2 9 Cytoplasm; Golgi apparatus; Cell membrane; Cell projection; Nucleus 0 2 Joubert syndrome 1; Impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis 1 1 5 2004-03-29 Q9NSI6 BRWD1_HUMAN BRWD1 Bromodomain and WD repeat-containing protein 1 2320 262.9 21 Cytoplasm; Nucleus; Cell projection 0 1 Ciliary dyskinesia, primary, 51 1 1 5 2001-01-11 Q9NU22 MDN1_HUMAN MDN1 Midasin 5596 632.8 6 Nucleus; Cytoplasm 0 0 1 1 5 2002-10-19 Q9NVX0 HAUS2_HUMAN HAUS2 HAUS augmin-like complex subunit 2 235 26.9 15 Cytoplasm 0 0 1 1 5 2004-12-21 Q9NXR1 NDE1_HUMAN NDE1 Nuclear distribution protein nudE homolog 1 335 37.7 16 Cytoplasm; Chromosome; Cleavage furrow; Cytoplasmic vesicle membrane 0 2 Lissencephaly 4 with microcephaly; Microhydranencephaly 1 1 5 2006-06-13 Q9NY74 ETAA1_HUMAN ETAA1 Ewing's tumor-associated antigen 1 926 103.4 2 Nucleus 0 0 1 1 5 2007-03-06 Q9NYC9 DYH9_HUMAN DNAH9 Dynein axonemal heavy chain 9 4486 511.9 17 Cytoplasm; Cell projection 0 1 Ciliary dyskinesia, primary, 40 1 1 5 2001-01-11 Q9NYK1 TLR7_HUMAN TLR7 Toll-like receptor 7 1049 120.9 X Endoplasmic reticulum membrane; Endosome; Lysosome; Cytoplasmic vesicle 1 2 Immunodeficiency 74, COVID19-related, X-linked; Systemic lupus erythematosus 17 1 1 5 2002-01-31 Q9P2M4 TBC14_HUMAN TBC1D14 TBC1 domain family member 14 693 78.1 4 Golgi apparatus 0 0 1 1 5 2004-06-21 Q9P2P5 HECW2_HUMAN HECW2 E3 ubiquitin-protein ligase HECW2 1572 175.8 2 2.3.2.26 Cytoplasm 0 1 Neurodevelopmental disorder with hypotonia, seizures, and absent language 1 1 5 2007-02-20 Q9UBD6 RHCG_HUMAN RHCG Ammonium transporter Rh type C 479 53.2 15 Cell membrane; Apical cell membrane 12 0 1 1 5 2007-04-03 Q9UBT3 DKK4_HUMAN DKK4 Dickkopf-related protein 4 224 24.9 8 Secreted 0 0 1 1 5 2001-02-21 Q9UBX1 CATF_HUMAN CTSF Cathepsin F 484 53.4 11 3.4.22.41 Lysosome 0 1 Ceroid lipofuscinosis, neuronal, 13 (Kufs type) 1 1 5 2001-01-24 Q9UDX3 S14L4_HUMAN SEC14L4 SEC14-like protein 4 406 46.6 22 0 0 1 1 5 2003-03-25 Q9UET6 TRM7_HUMAN FTSJ1 tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase 329 36.1 X 2.1.1.205 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, X-linked 9 1 1 5 2000-12-01 Q9UEU0 VTI1B_HUMAN VTI1B Vesicle transport through interaction with t-SNAREs homolog 1B 232 26.7 14 Early endosome membrane; Late endosome membrane; Lysosome membrane; Cytoplasmic granule; Recycling endosome membrane 1 0 1 1 5 2001-02-21 Q9UFE4 CCD39_HUMAN CCDC39 Coiled-coil domain-containing protein 39 941 109.9 3 Cytoplasm 0 1 Ciliary dyskinesia, primary, 14 1 1 5 2006-05-16 Q9UFF9 CNOT8_HUMAN CNOT8 CCR4-NOT transcription complex subunit 8 292 33.5 5 3.1.13.4 Cytoplasm; Nucleus 0 0 1 1 5 2001-08-14 Q9UGC7 RF1ML_HUMAN MTRF1L Peptide chain release factor 1-like, mitochondrial 380 43.6 6 Mitochondrion 0 0 1 1 5 2008-04-29 Q9UGN4 CLM8_HUMAN CD300A CMRF35-like molecule 8 299 33.2 17 Cell membrane 1 0 1 1 5 2004-06-07 Q9UHB4 NDOR1_HUMAN NDOR1 NADPH-dependent diflavin oxidoreductase 1 597 66.8 9 1.18.1.- Cytoplasm 0 0 1 1 5 2008-02-26 Q9UHB6 LIMA1_HUMAN LIMA1 LIM domain and actin-binding protein 1 759 85.2 12 Cytoplasm; Cell junction; Cell membrane; Cell projection 0 0 1 1 5 2002-03-05 Q9UHC6 CNTP2_HUMAN CNTNAP2 Contactin-associated protein-like 2 1331 148.2 7 Membrane; Cell projection; Cell junction 1 2 Autism 15; Pitt-Hopkins-like syndrome 1 1 1 5 2001-12-05 Q9UII4 HERC5_HUMAN HERC5 E3 ISG15--protein ligase HERC5 1024 116.9 4 2.3.2.- Cytoplasm 0 0 1 1 5 2004-05-10 Q9UKM9 RALY_HUMAN RALY RNA-binding protein Raly 306 32.5 20 Nucleus 0 0 1 1 5 2002-11-15 Q9ULH0 KDIS_HUMAN KIDINS220 Kinase D-interacting substrate of 220 kDa 1771 196.5 2 Membrane; Late endosome 4 2 Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis 1 1 5 2008-02-26 Q9ULV3 CIZ1_HUMAN CIZ1 Cip1-interacting zinc finger protein 898 100 9 Nucleus 0 0 1 1 5 2001-01-24 Q9UMD9 COHA1_HUMAN COL17A1 Collagen alpha-1(XVII) chain 1497 150.4 10 Cell junction; Membrane 1 2 Epidermolysis bullosa, junctional 4, intermediate; Epithelial recurrent erosion dystrophy 1 1 5 2004-02-02 Q9UMY4 SNX12_HUMAN SNX12 Sorting nexin-12 162 18.9 X Membrane 0 0 1 1 5 2000-12-01 Q9UNA1 RHG26_HUMAN ARHGAP26 Rho GTPase-activating protein 26 814 92.2 5 Cytoplasm; Cell junction 0 1 Leukemia, juvenile myelomonocytic 1 1 5 2002-07-11 Q9UQN3 CHM2B_HUMAN CHMP2B Charged multivesicular body protein 2b 213 23.9 3 Cytoplasm; Late endosome membrane 0 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 1 1 5 2005-08-30 Q9Y2H2 SAC2_HUMAN INPP5F Phosphatidylinositide 4-phosphatase SAC2 1132 128.4 10 3.1.3.- Membrane; Early endosome; Recycling endosome 0 0 1 1 5 2008-04-29 Q9Y2T1 AXIN2_HUMAN AXIN2 Axin-2 843 93.6 17 Cytoplasm 0 2 Colorectal cancer; Oligodontia-colorectal cancer syndrome 1 1 5 2000-12-01 Q9Y2V2 CHSP1_HUMAN CARHSP1 Calcium-regulated heat-stable protein 1 147 15.9 16 Cytoplasm; Cytoplasmic granule 0 0 1 1 5 2004-01-16 Q9Y3M2 CBY1_HUMAN CBY1 Protein chibby homolog 1 126 14.5 22 Nucleus speckle; Cytoplasm; Golgi apparatus; Cell projection; Nucleus 0 0 1 1 5 2002-05-02 Q9Y4F1 FARP1_HUMAN FARP1 FERM, ARHGEF and pleckstrin domain-containing protein 1 1045 118.6 13 Cell membrane; Synapse; Cytoplasm; Cell projection 0 0 1 1 5 2006-04-18 Q9Y4X3 CCL27_HUMAN CCL27 C-C motif chemokine 27 112 12.6 9 Secreted 0 0 1 1 5 2000-05-30 Q9Y5J3 HEY1_HUMAN HEY1 Hairy/enhancer-of-split related with YRPW motif protein 1 304 32.6 8 Nucleus 0 0 1 1 5 2001-02-21 Q9Y5X4 NR2E3_HUMAN NR2E3 Photoreceptor-specific nuclear receptor 410 44.7 15 Nucleus 0 2 Enhanced S-cone syndrome 1; Retinitis pigmentosa 37 1 1 5 2000-12-01 Q9Y615 ACL7A_HUMAN ACTL7A Actin-like protein 7A 435 48.6 9 Cytoplasm; Golgi apparatus; Nucleus; Cytoplasmic vesicle 0 1 Spermatogenic failure 86 1 1 5 2003-01-27 Q9Y6H5 SNCAP_HUMAN SNCAIP Synphilin-1 919 100.4 5 Cytoplasm 0 1 Parkinson disease 1 1 5 2000-12-01 Q9Y6Q6 TNR11_HUMAN TNFRSF11A Tumor necrosis factor receptor superfamily member 11A 616 66 18 Cell membrane; Membrane raft 1 3 Familial expansile osteolysis; Paget disease of bone 2, early-onset; Osteopetrosis, autosomal recessive 7 1 1 5 2001-09-26 Q9Y6R1 S4A4_HUMAN SLC4A4 Electrogenic sodium bicarbonate cotransporter 1 1079 121.5 4 Basolateral cell membrane; Cell membrane 12 1 Proximal renal tubular acidosis-ocular anomaly syndrome 1 1 5 2005-12-20 Q9Y6R7 FCGBP_HUMAN FCGBP IgGFc-binding protein 5405 572 Secreted 0 0 1 1 5 2006-10-31 Q9Y6V0 PCLO_HUMAN PCLO Protein piccolo 5142 560.7 7 Presynaptic active zone 0 1 Pontocerebellar hypoplasia 3 1 1 5 2002-10-19 Q9Y6W5 WASF2_HUMAN WASF2 Actin-binding protein WASF2 498 54.3 1 Cytoplasm; Cell projection; Basolateral cell membrane 0 0 1 1 5 2001-04-27 W5XKT8 SACA6_HUMAN SPACA6 Sperm acrosome membrane-associated protein 6 324 36.3 19 Cytoplasmic vesicle 1 0 1 1 5 2015-10-14 A0A2R8Y7D0 TINCR_HUMAN TINCR Ubiquitin domain-containing protein TINCR 87 10.1 19 Nucleus; Cell junction; Cytoplasm 0 0 1 1 5 2021-02-10 A4D2B0 MBLC1_HUMAN MBLAC1 Metallo-beta-lactamase domain-containing protein 1 266 27.2 7 3.1.27.- Cytoplasm; Nucleus 0 0 1 1 5 2008-05-20 O00148 DX39A_HUMAN DDX39A ATP-dependent RNA helicase DDX39A 427 49.1 19 3.6.4.13 Nucleus; Cytoplasm 0 0 1 1 5 2005-03-15 O00180 KCNK1_HUMAN KCNK1 Potassium channel subfamily K member 1 336 38.1 1 Cell membrane; Recycling endosome; Synaptic cell membrane; Cytoplasmic vesicle; Perikaryon; Cell projection; Apical cell membrane 4 0 1 1 5 2001-02-21 O00264 PGRC1_HUMAN PGRMC1 Membrane-associated progesterone receptor component 1 195 21.7 X Microsome membrane; Smooth endoplasmic reticulum membrane; Mitochondrion outer membrane; Secreted 1 0 1 1 5 2000-05-30 O00562 PITM1_HUMAN PITPNM1 Membrane-associated phosphatidylinositol transfer protein 1 1244 134.8 11 Cell membrane; Golgi apparatus; Endoplasmic reticulum membrane; Lipid droplet; Cleavage furrow; Midbody 0 0 1 1 5 2006-04-18 O00584 RNT2_HUMAN RNASET2 Ribonuclease T2 256 29.5 6 4.6.1.19 Secreted; Lysosome lumen; Endoplasmic reticulum lumen; Mitochondrion intermembrane space 0 1 Leukoencephalopathy, cystic, without megalencephaly 1 1 5 2002-04-03 O14522 PTPRT_HUMAN PTPRT Receptor-type tyrosine-protein phosphatase T 1441 162.1 20 3.1.3.48 Membrane 1 0 1 1 5 2003-07-19 O14526 FCHO1_HUMAN FCHO1 F-BAR domain only protein 1 889 96.9 19 Membrane 0 1 Immunodeficiency 76 1 1 5 2007-01-09 O14782 KIF3C_HUMAN KIF3C Kinesin-like protein KIF3C 793 89.5 2 Cytoplasm 0 0 1 1 5 1998-12-15 O14796 SH21B_HUMAN SH2D1B SH2 domain-containing protein 1B 132 15.3 1 0 0 1 1 5 2001-04-27 O15014 ZN609_HUMAN ZNF609 Zinc finger protein 609 1411 151.2 15 Nucleus 0 0 1 1 5 2007-03-20 O15031 PLXB2_HUMAN PLXNB2 Plexin-B2 1838 205.1 22 Cell membrane 1 0 1 1 5 2004-08-31 O15061 SYNEM_HUMAN SYNM Synemin 1565 172.9 15 Cytoplasm; Cell junction 0 0 1 1 5 2002-01-23 O15539 RGS5_HUMAN RGS5 Regulator of G protein signaling 5 181 20.9 1 Cytoplasm; Membrane 0 0 1 1 5 1998-12-15 O43159 RRP8_HUMAN RRP8 Ribosomal RNA-processing protein 8 456 50.7 11 2.1.1.- Nucleus 0 0 1 1 5 2005-04-26 O43186 CRX_HUMAN CRX Cone-rod homeobox protein 299 32.3 19 Nucleus 0 3 Leber congenital amaurosis 7; Cone-rod dystrophy 2; Retinitis pigmentosa 1 1 5 1998-07-15 O43236 SEPT4_HUMAN SEPTIN4 Septin-4 996 112.4 17 Cytoplasm; Cell projection; Cytoplasmic vesicle; Perikaryon; Synapse 0 1 Spermatogenic failure 99 1 1 5 1998-07-15 O43251 RFOX2_HUMAN RBFOX2 RNA binding protein fox-1 homolog 2 390 41.4 22 Nucleus; Cytoplasm 0 0 1 1 5 2000-12-01 O43307 ARHG9_HUMAN ARHGEF9 Rho guanine nucleotide exchange factor 9 516 61 X Cytoplasm; Postsynaptic density 0 1 Developmental and epileptic encephalopathy 8 1 1 5 2006-10-17 O43463 SUV91_HUMAN SUV39H1 Histone-lysine N-methyltransferase SUV39H1 412 47.9 X 2.1.1.- Nucleus; Chromosome; Nucleus lamina 0 0 1 1 5 2002-11-15 O43508 TNF12_HUMAN TNFSF12 Tumor necrosis factor ligand superfamily member 12 249 27.2 17 Cell membrane 1 0 1 1 5 2002-06-06 O43734 CIKS_HUMAN TRAF3IP2 E3 ubiquitin ligase TRAF3IP2 574 64.7 6 2.3.2.27 0 2 Psoriasis 13; Candidiasis, familial, 8 1 1 5 2001-04-27 O43745 CHP2_HUMAN CHP2 Calcineurin B homologous protein 2 196 22.5 16 Nucleus; Cytoplasm; Cell membrane 0 0 1 1 5 2001-10-18 O43819 SCO2_HUMAN SCO2 Cytochrome c oxidase assembly factor SCO2 266 29.8 22 Mitochondrion inner membrane 1 2 Mitochondrial complex IV deficiency, nuclear type 2; Myopia 6 1 1 5 2000-05-30 O60241 AGRB2_HUMAN ADGRB2 Adhesion G protein-coupled receptor B2 1585 172.7 1 Cell membrane; Secreted 7 0 1 1 5 2000-12-01 O60256 KPRB_HUMAN PRPSAP2 Phosphoribosyl pyrophosphate synthase-associated protein 2 369 40.9 17 0 0 1 1 5 2002-10-25 O60825 F262_HUMAN PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 505 58.5 1 0 0 1 1 5 2001-01-24 O75051 PLXA2_HUMAN PLXNA2 Plexin-A2 1894 211.1 1 Cell membrane 1 0 1 1 5 2006-04-18 O75081 MTG16_HUMAN CBFA2T3 Transcriptional corepressor CBFA2T3 653 71.2 16 Nucleus 0 0 1 1 5 2007-10-23 O75096 LRP4_HUMAN LRP4 Low-density lipoprotein receptor-related protein 4 1905 212 11 Cell membrane 1 3 Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Myasthenic syndrome, congenital, 17 1 1 5 2004-04-13 O75128 COBL_HUMAN COBL Protein cordon-bleu 1261 135.6 7 Cell membrane; Cytoplasm; Cell projection 0 0 1 1 5 2006-11-28 O75146 HIP1R_HUMAN HIP1R Huntingtin-interacting protein 1-related protein 1068 119.4 12 Cytoplasm; Endomembrane system; Cytoplasmic vesicle 0 0 1 1 5 2001-04-27 O75155 CAND2_HUMAN CAND2 Cullin-associated NEDD8-dissociated protein 2 1236 135.3 3 Nucleus 0 0 1 1 5 2005-06-07 O75326 SEM7A_HUMAN SEMA7A Semaphorin-7A 666 74.8 15 Cell membrane 0 1 Cholestasis, progressive familial intrahepatic, 11 1 1 5 2001-06-20 O75716 STK16_HUMAN STK16 Serine/threonine-protein kinase 16 305 34.7 2 2.7.11.1 Cytoplasm; Membrane 0 0 1 1 5 2001-02-21 O75914 PAK3_HUMAN PAK3 Serine/threonine-protein kinase PAK 3 559 62.3 X 2.7.11.1 Cytoplasm 0 1 Intellectual developmental disorder, X-linked 30 1 1 5 1998-12-15 O75925 PIAS1_HUMAN PIAS1 E3 SUMO-protein ligase PIAS1 651 71.8 15 2.3.2.- Nucleus; Nucleus speckle; Cytoplasm 0 0 1 1 5 2002-03-05 O76041 NEBL_HUMAN NEBL Nebulette 1014 116.5 10 Cytoplasm 0 0 1 1 5 2001-02-21 O76096 CYTF_HUMAN CST7 Cystatin-F 145 16.5 20 Secreted; Cytoplasm 0 0 1 1 5 1998-12-15 O94972 TRI37_HUMAN TRIM37 E3 ubiquitin-protein ligase TRIM37 964 107.9 17 2.3.2.27 Chromosome; Cytoplasm; Peroxisome membrane 0 1 Mulibrey nanism 1 1 5 2004-11-23 O95104 SCAF4_HUMAN SCAF4 SR-related and CTD-associated factor 4 1147 125.9 21 Nucleus 0 1 Fliedner-Zweier syndrome 1 1 5 2000-05-30 O95259 KCNH1_HUMAN KCNH1 Voltage-gated delayed rectifier potassium channel KCNH1 989 111.4 1 Cell membrane; Nucleus inner membrane; Cell projection; Presynaptic cell membrane; Perikaryon; Postsynaptic density membrane; Early endosome membrane 6 2 Temple-Baraitser syndrome; Zimmermann-Laband syndrome 1 1 1 5 2002-11-28 O95568 MET18_HUMAN METTL18 Histidine protein methyltransferase 1 homolog 372 42.1 1 2.1.1.85 Cytoplasm; Nucleus 0 0 1 1 5 2006-07-25 O95866 G6B_HUMAN MPIG6B Megakaryocyte and platelet inhibitory receptor G6b 241 26.2 6 Endoplasmic reticulum; Golgi apparatus 1 1 Thrombocytopenia, anemia, and myelofibrosis 1 1 5 2005-06-21 O95868 LY66D_HUMAN LY6G6D Lymphocyte antigen 6 complex locus protein G6d 133 13.7 6 Cell membrane; Cell projection 0 0 1 1 5 2008-03-18 O95967 FBLN4_HUMAN EFEMP2 EGF-containing fibulin-like extracellular matrix protein 2 443 49.4 11 Secreted 0 1 Cutis laxa, autosomal recessive, 1B 1 1 5 2000-12-01 O95980 RECK_HUMAN RECK Reversion-inducing cysteine-rich protein with Kazal motifs 971 106.5 9 Cell membrane 0 0 1 1 5 2002-04-16 O95998 I18BP_HUMAN IL18BP Interleukin-18-binding protein 194 21.1 11 Secreted 0 1 Hepatitis, fulminant viral 1 1 5 2000-05-30 P01700 LV147_HUMAN IGLV1-47 Immunoglobulin lambda variable 1-47 117 12.3 22 Secreted; Cell membrane 0 0 1 1 5 1986-07-21 P04000 OPSR_HUMAN OPN1LW Long-wave-sensitive opsin 1 364 40.6 X Membrane; Photoreceptor outer segment membrane 7 2 Colorblindness, partial, protan series; Blue cone monochromacy 1 1 5 1986-10-23 P04085 PDGFA_HUMAN PDGFA Platelet-derived growth factor subunit A 211 24 7 Secreted 0 0 1 1 5 1986-11-01 P05000 IFNW1_HUMAN IFNW1 Interferon omega-1 195 22.3 9 Secreted 0 0 1 1 5 1987-08-13 P07307 ASGR2_HUMAN ASGR2 Asialoglycoprotein receptor 2 311 35.1 17 Membrane 1 0 1 1 5 1988-04-01 P07947 YES_HUMAN YES1 Tyrosine-protein kinase Yes 543 60.8 18 2.7.10.2 Cell membrane; Cytoplasm; Cell junction 0 0 1 1 5 1988-08-01 P08294 SODE_HUMAN SOD3 Extracellular superoxide dismutase [Cu-Zn] 240 25.9 4 1.15.1.1 Secreted; Golgi apparatus; Vesicle 0 0 1 1 5 1988-08-01 P08319 ADH4_HUMAN ADH4 All-trans-retinol dehydrogenase [NAD(+)] ADH4 380 40.2 4 1.1.1.105 Cytoplasm 0 0 1 1 5 1988-08-01 P08582 TRFM_HUMAN MELTF Melanotransferrin 738 80.2 3 Cell membrane 0 0 1 1 5 1988-08-01 P08729 K2C7_HUMAN KRT7 Keratin, type II cytoskeletal 7 469 51.4 12 Cytoplasm 0 0 1 1 5 1988-08-01 P09172 DOPO_HUMAN DBH Dopamine beta-hydroxylase 617 69.1 9 1.14.17.1 Cytoplasmic vesicle 1 1 Orthostatic hypotension 1 1 1 5 1989-07-01 P09326 CD48_HUMAN CD48 CD48 antigen 243 27.7 1 Cell membrane; Membrane raft; Secreted 0 0 1 1 5 1989-07-01 P0CAP1 MYZAP_HUMAN MYZAP Myocardial zonula adherens protein 466 54.2 15 Cytoplasm; Cell membrane; Cell junction 0 1 Cardiomyopathy, dilated, 2K 1 1 5 2009-05-26 P0DPK2 H3Y1_HUMAN H3Y1 Histone H3.Y 136 15.4 5 Nucleus; Chromosome 0 0 1 1 5 2018-09-12 P0DPK5 H3Y2_HUMAN H3Y2 Histone H3.X 147 16.5 5 Nucleus; Chromosome 0 0 1 1 5 2018-09-12 P11245 ARY2_HUMAN NAT2 Arylamine N-acetyltransferase 2 290 33.6 8 2.3.1.5 Cytoplasm 0 0 1 1 5 1989-07-01 P11678 PERE_HUMAN EPX Eosinophil peroxidase 715 81 17 1.11.1.7 Cytoplasmic granule 0 1 Eosinophil peroxidase deficiency 1 1 5 1989-10-01 P12110 CO6A2_HUMAN COL6A2 Collagen alpha-2(VI) chain 1019 108.6 21 Secreted; Membrane 0 3 Bethlem myopathy 1B; Ullrich congenital muscular dystrophy 1B; Myosclerosis autosomal recessive 1 1 5 1989-10-01 P12645 BMP3_HUMAN BMP3 Bone morphogenetic protein 3 472 53.4 4 Secreted 0 0 1 1 5 1989-10-01 P13598 ICAM2_HUMAN ICAM2 Intercellular adhesion molecule 2 275 30.7 17 Cell membrane; Cell projection 1 0 1 1 5 1990-01-01 P16402 H13_HUMAN H1-3 Histone H1.3 221 22.4 6 Nucleus; Chromosome 0 0 1 1 5 1990-08-01 P16662 UD2B7_HUMAN UGT2B7 UDP-glucuronosyltransferase 2B7 529 60.7 4 2.4.1.17 Endoplasmic reticulum membrane 1 0 1 1 5 1990-08-01 P17066 HSP76_HUMAN HSPA6 Heat shock 70 kDa protein 6 643 71 1 0 0 1 1 5 1990-08-01 P17081 RHOQ_HUMAN RHOQ Rho-related GTP-binding protein RhoQ 205 22.7 2 3.6.5.2 Cytoplasm; Cell membrane 0 0 1 1 5 1990-08-01 P17936 IBP3_HUMAN IGFBP3 Insulin-like growth factor-binding protein 3 291 31.7 7 Secreted; Nucleus 0 0 1 1 5 1990-11-01 P18065 IBP2_HUMAN IGFBP2 Insulin-like growth factor-binding protein 2 325 34.8 2 Secreted 0 0 1 1 5 1990-11-01 P18433 PTPRA_HUMAN PTPRA Receptor-type tyrosine-protein phosphatase alpha 802 90.7 20 3.1.3.48 Cell membrane; Cell junction 1 0 1 1 5 1990-11-01 P20020 AT2B1_HUMAN ATP2B1 Plasma membrane calcium-transporting ATPase 1 1220 134.7 12 7.2.2.10 Cell membrane; Basolateral cell membrane; Synapse; Presynaptic cell membrane; Cytoplasmic vesicle 10 1 Intellectual developmental disorder, autosomal dominant 66 1 1 5 1991-02-01 P20265 PO3F2_HUMAN POU3F2 POU domain, class 3, transcription factor 2 443 46.9 6 Nucleus 0 0 1 1 5 1991-02-01 P20645 MPRD_HUMAN M6PR Cation-dependent mannose-6-phosphate receptor 277 31 12 Lysosome membrane 1 0 1 1 5 1991-02-01 P21266 GSTM3_HUMAN GSTM3 Glutathione S-transferase Mu 3 225 26.6 1 2.5.1.18 Cytoplasm 0 0 1 1 5 1991-05-01 P21452 NK2R_HUMAN TACR2 Substance-K receptor 398 44.4 10 Cell membrane 7 0 1 1 5 1991-05-01 P22352 GPX3_HUMAN GPX3 Glutathione peroxidase 3 226 25.6 5 1.11.1.9 Secreted 0 0 1 1 5 1991-08-01 P22670 RFX1_HUMAN RFX1 MHC class II regulatory factor RFX1 979 104.8 19 Nucleus 0 0 1 1 5 1991-08-01 P22749 GNLY_HUMAN GNLY Granulysin 145 16.4 2 Secreted 0 0 1 1 5 1991-08-01 P23280 CAH6_HUMAN CA6 Carbonic anhydrase 6 308 35.4 1 4.2.1.1 Secreted 0 0 1 1 5 1991-11-01 P23352 KALM_HUMAN ANOS1 Anosmin-1 680 76.1 X Cell membrane; Secreted 0 1 Hypogonadotropic hypogonadism 1 with or without anosmia 1 1 5 1991-11-01 P24522 GA45A_HUMAN GADD45A Growth arrest and DNA damage-inducible protein GADD45 alpha 165 18.3 1 Nucleus 0 0 1 1 5 1992-03-01 P25686 DNJB2_HUMAN DNAJB2 DnaJ homolog subfamily B member 2 324 35.6 2 Cytoplasm; Nucleus 0 1 Neuronopathy, distal hereditary motor, autosomal recessive 5 1 1 5 1992-05-01 P27930 IL1R2_HUMAN IL1R2 Interleukin-1 receptor type 2 398 45.4 2 Secreted 1 0 1 1 5 1992-08-01 P30203 CD6_HUMAN CD6 T-cell differentiation antigen CD6 668 71.8 11 Cell membrane 1 0 1 1 5 1993-04-01 P32519 ELF1_HUMAN ELF1 ETS-related transcription factor Elf-1 619 67.5 13 Nucleus 0 0 1 1 5 1993-10-01 P33261 CP2CJ_HUMAN CYP2C19 Cytochrome P450 2C19 490 55.9 10 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 1 1 5 1994-02-01 P34925 RYK_HUMAN RYK Inactive tyrosine-protein kinase RYK 607 67.8 3 Cell membrane; Nucleus; Cytoplasm 1 0 1 1 5 1994-02-01 P35498 SCN1A_HUMAN SCN1A Sodium channel protein type 1 subunit alpha 2009 229 2 Cell membrane 24 6 Generalized epilepsy with febrile seizures plus 2; Dravet syndrome; Intractable childhood epilepsy with generalized tonic-clonic seizures; Migraine, familial hemiplegic, 3; Febrile seizures, familial, 3A; Developmental and epileptic encephalopathy 6B 1 1 5 1994-06-01 P35789 ZNF93_HUMAN ZNF93 Zinc finger protein 93 620 71 19 Nucleus 0 0 1 1 5 1994-06-01 P36537 UDB10_HUMAN UGT2B10 UDP-glucuronosyltransferase 2B10 528 60.8 4 2.4.1.17 Microsome membrane; Endoplasmic reticulum membrane 1 0 1 1 5 1994-06-01 P36957 ODO2_HUMAN DLST Dihydrolipoyllysine-residue succinyltransferase component of 2-oxoglutarate dehydrogenase complex, mitochondrial 453 48.8 14 2.3.1.61 Mitochondrion matrix; Nucleus 0 1 Pheochromocytoma/paraganglioma syndrome 7 1 1 5 1994-06-01 P42681 TXK_HUMAN TXK Tyrosine-protein kinase TXK 527 61.3 4 2.7.10.2 Cytoplasm; Nucleus; Cell membrane 0 0 1 1 5 1995-11-01 P42785 PCP_HUMAN PRCP Lysosomal Pro-X carboxypeptidase 496 55.8 11 3.4.16.2 Lysosome 0 0 1 1 5 1995-11-01 P43364 MAGAB_HUMAN MAGEA11 Melanoma-associated antigen 11 429 48.1 X Nucleus; Cytoplasm 0 0 1 1 5 1995-11-01 P43632 KI2S4_HUMAN KIR2DS4 Killer cell immunoglobulin-like receptor 2DS4 304 33.6 Cell membrane 1 0 1 1 5 1995-11-01 P46663 BKRB1_HUMAN BDKRB1 B1 bradykinin receptor 353 40.5 14 Cell membrane 7 0 1 1 5 1995-11-01 P48200 IREB2_HUMAN IREB2 Iron-responsive element-binding protein 2 963 105.1 15 Cytoplasm 0 1 Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 1 1 5 1996-02-01 P48454 PP2BC_HUMAN PPP3CC Serine/threonine-protein phosphatase 2B catalytic subunit gamma isoform 512 58.1 8 3.1.3.16 Mitochondrion 0 0 1 1 5 1996-02-01 P49747 COMP_HUMAN COMP Cartilage oligomeric matrix protein 757 82.9 19 Secreted 0 3 Multiple epiphyseal dysplasia 1; Pseudoachondroplasia; Carpal tunnel syndrome 2 1 1 5 1996-10-01 P49795 RGS19_HUMAN RGS19 Regulator of G protein signaling 19 217 24.6 20 Membrane 0 0 1 1 5 1996-10-01 P50453 SPB9_HUMAN SERPINB9 Serpin B9 376 42.4 6 Cytoplasm 0 0 1 1 5 1996-10-01 P50570 DYN2_HUMAN DNM2 Dynamin-2 870 98.1 19 3.6.5.5 Cytoplasm; Cytoplasmic vesicle; Cell projection; Endosome; Recycling endosome; Cell junction; Postsynaptic density; Synapse; Midbody; Membrane 0 4 Myopathy, centronuclear, 1; Lethal congenital contracture syndrome 5; Charcot-Marie-Tooth disease, dominant intermediate B; Charcot-Marie-Tooth disease, axonal, type 2M 1 1 5 1996-10-01 P51172 SCNND_HUMAN SCNN1D Epithelial sodium channel subunit delta 802 87.9 1 Apical cell membrane 2 0 1 1 5 1996-10-01 P51684 CCR6_HUMAN CCR6 C-C chemokine receptor type 6 374 42.5 6 Cell membrane; Cell surface 7 0 1 1 5 1996-10-01 P51686 CCR9_HUMAN CCR9 C-C chemokine receptor type 9 369 42 3 Cell membrane 7 0 1 1 5 1996-10-01 P51800 CLCKA_HUMAN CLCNKA Chloride channel protein ClC-Ka 687 75.3 1 Basolateral cell membrane 10 1 Bartter syndrome 4B, neonatal, with sensorineural deafness 1 1 5 1996-10-01 P51809 VAMP7_HUMAN VAMP7 Vesicle-associated membrane protein 7 220 24.9 X Cytoplasmic vesicle; Golgi apparatus; Late endosome membrane; Lysosome membrane; Endoplasmic reticulum membrane; Synapse 1 0 1 1 5 1996-10-01 P51843 NR0B1_HUMAN NR0B1 Nuclear receptor subfamily 0 group B member 1 470 51.7 X Nucleus; Cytoplasm 0 2 Adrenal hypoplasia, congenital; 46,XY sex reversal 2 1 1 5 1996-10-01 P55895 RAG2_HUMAN RAG2 V(D)J recombination-activating protein 2 527 59.2 11 Nucleus 0 3 Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive; Omenn syndrome 1 1 5 1997-11-01 P60201 MYPR_HUMAN PLP1 Myelin proteolipid protein 277 30.1 X Cell membrane; Myelin membrane 4 2 Leukodystrophy, hypomyelinating, 1; Spastic paraplegia 2, X-linked 1 1 5 1988-01-01 P61018 RAB4B_HUMAN RAB4B Ras-related protein Rab-4B 213 23.6 19 3.6.5.2 Cell membrane; Early endosome membrane 0 0 1 1 5 2004-04-26 P61966 AP1S1_HUMAN AP1S1 AP-1 complex subunit sigma-1A 158 18.7 7 Golgi apparatus; Cytoplasmic vesicle membrane; Membrane 0 1 MEDNIK syndrome 1 1 5 2004-06-07 P78368 KC1G2_HUMAN CSNK1G2 Casein kinase I isoform gamma-2 415 47.5 19 2.7.11.1 Cytoplasm 0 0 1 1 5 1998-07-15 P78509 RELN_HUMAN RELN Reelin 3460 388.4 7 3.4.21.- Secreted 0 2 Lissencephaly 2; Epilepsy, familial temporal lobe, 7 1 1 5 2002-03-27 P80370 DLK1_HUMAN DLK1 Protein delta homolog 1 383 41.3 14 Membrane; Cytoplasm 1 0 1 1 5 1995-11-01 P82979 SARNP_HUMAN SARNP SAP domain-containing ribonucleoprotein 210 23.7 12 Nucleus; Nucleus speckle 0 0 1 1 5 2001-08-29 P86397 HTD2_HUMAN HTD2 Hydroxyacyl-thioester dehydratase type 2, mitochondrial 168 18.6 3 4.2.1.59 Mitochondrion 0 0 1 1 5 2009-12-15 P98172 EFNB1_HUMAN EFNB1 Ephrin-B1 346 38 X Cell membrane; Membrane raft 1 1 Craniofrontonasal syndrome 1 1 5 1996-10-01 Q01113 IL9R_HUMAN IL9R Interleukin-9 receptor 521 57.1 X Cell membrane; Secreted 1 0 1 1 5 1993-04-01 Q01844 EWS_HUMAN EWSR1 RNA-binding protein EWS 656 68.5 22 Nucleus; Cytoplasm; Cell membrane 0 2 Ewing sarcoma; Angiomatoid fibrous histiocytoma 1 1 5 1994-06-01 Q02363 ID2_HUMAN ID2 DNA-binding protein inhibitor ID-2 134 14.9 2 Cytoplasm; Nucleus 0 0 1 1 5 1995-02-01 Q02818 NUCB1_HUMAN NUCB1 Nucleobindin-1 461 53.9 19 Golgi apparatus; Cytoplasm; Secreted 0 0 1 1 5 1993-07-01 Q03252 LMNB2_HUMAN LMNB2 Lamin-B2 620 69.9 19 Nucleus lamina 0 3 Partial acquired lipodystrophy; Epilepsy, progressive myoclonic 9; Microcephaly 27, primary, autosomal dominant 1 1 5 1994-06-01 Q05923 DUSP2_HUMAN DUSP2 Dual specificity protein phosphatase 2 314 34.4 2 3.1.3.16, 3.1.3.48 Nucleus 0 0 1 1 5 1994-02-01 Q06828 FMOD_HUMAN FMOD Fibromodulin 376 43.2 1 Secreted 0 0 1 1 5 1994-06-01 Q08257 QOR_HUMAN CRYZ Zeta-crystallin 329 35.2 1 Cytoplasm 0 0 1 1 5 1994-10-01 Q13115 DUS4_HUMAN DUSP4 Dual specificity protein phosphatase 4 394 43 8 3.1.3.16, 3.1.3.48 Nucleus 0 0 1 1 5 1997-11-01 Q13136 LIPA1_HUMAN PPFIA1 Liprin-alpha-1 1202 135.8 11 Cytoplasm 0 0 1 1 5 2004-02-16 Q13190 STX5_HUMAN STX5 Syntaxin-5 355 39.7 11 Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus membrane 1 1 Congenital disorder of glycosylation 2AA 1 1 5 1997-11-01 Q13202 DUS8_HUMAN DUSP8 Dual specificity protein phosphatase 8 625 65.8 11 3.1.3.16, 3.1.3.48 Cytoplasm; Nucleus 0 0 1 1 5 1999-07-15 Q13233 M3K1_HUMAN MAP3K1 Mitogen-activated protein kinase kinase kinase 1 1512 164.5 5 2.7.11.25 0 1 46,XY sex reversal 6 1 1 5 1997-11-01 Q13387 JIP2_HUMAN MAPK8IP2 C-Jun-amino-terminal kinase-interacting protein 2 824 88 22 Cytoplasm 0 0 1 1 5 2001-12-05 Q13568 IRF5_HUMAN IRF5 Interferon regulatory factor 5 498 56 7 Cytoplasm; Nucleus 0 3 Inflammatory bowel disease 14; Systemic lupus erythematosus 10; Rheumatoid arthritis 1 1 5 1997-11-01 Q13574 DGKZ_HUMAN DGKZ Diacylglycerol kinase zeta 928 104 11 2.7.1.107, 2.7.1.93 Nucleus; Cytoplasm; Cell membrane; Cell projection 0 0 1 1 5 1997-11-01 Q13740 CD166_HUMAN ALCAM CD166 antigen 583 65.1 3 Cell membrane; Cell projection 1 0 1 1 5 1997-11-01 Q13761 RUNX3_HUMAN RUNX3 Runt-related transcription factor 3 415 44.4 1 Nucleus; Cytoplasm 0 0 1 1 5 2001-11-02 Q13835 PKP1_HUMAN PKP1 Plakophilin-1 747 82.9 1 Nucleus; Cytoplasm; Cell junction; Cell membrane 0 1 Ectodermal dysplasia-skin fragility syndrome 1 1 5 2002-01-23 Q13905 RPGF1_HUMAN RAPGEF1 Rap guanine nucleotide exchange factor 1 1077 120.5 9 Early endosome 0 0 1 1 5 2002-11-15 Q14117 DPYS_HUMAN DPYS Dihydropyrimidinase 519 56.6 8 3.5.2.2 0 1 Dihydropyrimidinase deficiency 1 1 5 1998-07-15 Q14209 E2F2_HUMAN E2F2 Transcription factor E2F2 437 47.5 1 Nucleus 0 0 1 1 5 1997-11-01 Q14353 GAMT_HUMAN GAMT Guanidinoacetate N-methyltransferase 236 26.3 19 2.1.1.2 0 1 Cerebral creatine deficiency syndrome 2 1 1 5 1997-11-01 Q14728 S75A1_HUMAN SLC75A1 Solute carrier family 75 member 1 455 48.3 4 Nucleus inner membrane; Cell membrane 11 0 1 1 5 2008-03-18 Q14863 PO6F1_HUMAN POU6F1 POU domain, class 6, transcription factor 1 611 63.1 12 Nucleus 0 0 1 1 5 1997-11-01 Q15003 CND2_HUMAN NCAPH Condensin complex subunit 2 741 82.6 2 Nucleus; Cytoplasm; Chromosome 0 1 Microcephaly 23, primary, autosomal recessive 1 1 5 2003-04-23 Q15011 HERP1_HUMAN HERPUD1 Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein 391 43.7 16 Endoplasmic reticulum membrane 2 0 1 1 5 1998-07-15 Q15057 ACAP2_HUMAN ACAP2 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 778 88 3 Cell membrane; Endosome membrane 0 0 1 1 5 1998-07-15 Q15126 PMVK_HUMAN PMVK Phosphomevalonate kinase 192 22 1 2.7.4.2 Cytoplasm 0 1 Porokeratosis 1, multiple types 1 1 5 1998-07-15 Q15256 PTPRR_HUMAN PTPRR Receptor-type tyrosine-protein phosphatase R 657 73.8 12 3.1.3.48 Secreted 1 0 1 1 5 2002-11-15 Q15287 RNPS1_HUMAN RNPS1 RNA-binding protein with serine-rich domain 1 305 34.2 16 Nucleus; Nucleus speckle; Cytoplasm 0 0 1 1 5 2005-11-22 Q15334 L2GL1_HUMAN LLGL1 Lethal(2) giant larvae protein homolog 1 1064 115.4 17 Early endosome membrane; Golgi apparatus; Golgi apparatus membrane; Cell projection; Cytoplasm 0 0 1 1 5 2006-04-18 Q16537 2A5E_HUMAN PPP2R5E Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit epsilon isoform 467 54.7 14 Cytoplasm 0 0 1 1 5 2000-05-30 Q16566 KCC4_HUMAN CAMK4 Calcium/calmodulin-dependent protein kinase type IV 473 51.9 5 2.7.11.17 Cytoplasm; Nucleus 0 0 1 1 5 1997-11-01 Q16613 SNAT_HUMAN AANAT Serotonin N-acetyltransferase 207 23.3 17 2.3.1.87 Cytoplasm 0 0 1 1 5 2000-12-01 Q16621 NFE2_HUMAN NFE2 Transcription factor NF-E2 45 kDa subunit 373 41.5 12 Nucleus; Cytoplasm 0 0 1 1 5 2000-05-30 Q16762 THTR_HUMAN TST Thiosulfate sulfurtransferase 297 33.4 22 2.8.1.1 Mitochondrion; Mitochondrion matrix 0 0 1 1 5 1998-07-15 Q3KNT9 TMM95_HUMAN TMEM95 Sperm-egg fusion protein TMEM95 176 19.6 17 Cytoplasmic vesicle 1 0 1 1 5 2007-05-15 Q3V6T2 GRDN_HUMAN CCDC88A Girdin 1871 216 2 Cell membrane; Cytoplasm; Cytoplasmic vesicle; Cell projection 0 1 PEHO-like syndrome 1 1 5 2007-05-15 Q4G0X9 CCD40_HUMAN CCDC40 Coiled-coil domain-containing protein 40 1142 130.1 17 Cytoplasm; Cell projection 0 1 Ciliary dyskinesia, primary, 15 1 1 5 2007-10-02 Q53HC5 KLH26_HUMAN KLHL26 Kelch-like protein 26 615 68.1 19 0 0 1 1 5 2006-06-27 Q5HYA8 MKS3_HUMAN TMEM67 Meckelin 995 111.7 8 Cell membrane; Endoplasmic reticulum membrane; Cell projection; Cytoplasm 7 6 Meckel syndrome 3; Joubert syndrome 6; Bardet-Biedl syndrome 14; COACH syndrome 1; Nephronophthisis 11; RHYNS syndrome 1 1 5 2006-03-07 Q5JS13 RGPS1_HUMAN RALGPS1 Ras-specific guanine nucleotide-releasing factor RalGPS1 557 62.1 9 Cytoplasm; Cell membrane 0 0 1 1 5 2008-05-20 Q5T655 CFA58_HUMAN CFAP58 Cilia- and flagella-associated protein 58 872 103.4 10 Cell projection; Cytoplasm 0 1 Spermatogenic failure 49 1 1 5 2007-02-06 Q5TA31 RN187_HUMAN RNF187 E3 ubiquitin-protein ligase RNF187 235 26.2 1 2.3.2.27 Cytoplasm; Nucleus 0 0 1 1 5 2007-02-20 Q5TB30 DEP1A_HUMAN DEPDC1 DEP domain-containing protein 1A 811 93 1 Nucleus 0 0 1 1 5 2007-04-17 Q5TCX8 M3K21_HUMAN MAP3K21 Mitogen-activated protein kinase kinase kinase 21 1036 114 1 2.7.11.25 0 0 1 1 5 2005-07-19 Q5TD97 FHL5_HUMAN FHL5 Four and a half LIM domains protein 5 284 32.7 6 Nucleus 0 0 1 1 5 2005-07-05 Q5VVX9 UBE2U_HUMAN UBE2U Ubiquitin-conjugating enzyme E2 U 321 37.7 1 2.3.2.23 0 0 1 1 5 2005-10-25 Q63HK5 TSH3_HUMAN TSHZ3 Teashirt homolog 3 1081 118.6 19 Nucleus; Cell projection 0 0 1 1 5 2006-01-10 Q68DK2 ZFY26_HUMAN ZFYVE26 Zinc finger FYVE domain-containing protein 26 2539 284.6 14 Cytoplasm; Midbody 0 1 Spastic paraplegia 15, autosomal recessive 1 1 5 2008-01-15 Q6HA08 ASTL_HUMAN ASTL Astacin-like metalloendopeptidase 431 45.9 2 3.4.-.- Cytoplasm; Cell membrane; Cytoplasmic vesicle 0 1 Oocyte/zygote/embryo maturation arrest 11 1 1 5 2005-09-27 Q6PCD5 RFWD3_HUMAN RFWD3 E3 ubiquitin-protein ligase RFWD3 774 85.1 16 2.3.2.27 Nucleus; Cytoplasm 0 1 Fanconi anemia, complementation group W 1 1 5 2007-02-20 Q6PF18 MORN3_HUMAN MORN3 MORN repeat-containing protein 3 240 27.6 12 Cytoplasmic vesicle 0 0 1 1 5 2006-07-25 Q6PH85 DCNL2_HUMAN DCUN1D2 DCN1-like protein 2 259 30.2 13 Cytoplasm; Nucleus 0 0 1 1 5 2005-08-30 Q6UWP2 DHR11_HUMAN DHRS11 Dehydrogenase/reductase SDR family member 11 260 28.3 17 Secreted 0 0 1 1 5 2006-01-10 Q6UXZ0 TMIG1_HUMAN TMIGD1 Transmembrane and immunoglobulin domain-containing protein 1 262 29.2 17 Cell membrane; Cytoplasm 1 0 1 1 5 2006-01-24 Q6ZN17 LN28B_HUMAN LIN28B Protein lin-28 homolog B 250 27.1 6 Nucleus; Cytoplasm 0 0 1 1 5 2006-10-17 Q6ZRY4 RBPS2_HUMAN RBPMS2 RNA-binding protein with multiple splicing 2 209 22.5 15 Cytoplasm; Nucleus 0 0 1 1 5 2007-02-06 Q6ZW49 PAXI1_HUMAN PAXIP1 PAX-interacting protein 1 1069 121.3 7 Nucleus matrix; Chromosome 0 0 1 1 5 2007-07-24 Q70CQ1 UBP49_HUMAN USP49 Ubiquitin carboxyl-terminal hydrolase 49 688 79.2 6 3.4.19.12 Nucleus; Cytoplasm 0 0 1 1 5 2004-09-13 Q70J99 UN13D_HUMAN UNC13D Protein unc-13 homolog D 1090 123.3 17 Cytoplasm; Membrane; Late endosome; Recycling endosome; Lysosome 0 1 Hemophagocytic lymphohistiocytosis, familial, 3 1 1 5 2004-08-16 Q7Z4H7 HAUS6_HUMAN HAUS6 HAUS augmin-like complex subunit 6 955 108.6 9 Cytoplasm 0 0 1 1 5 2006-01-24 Q7Z4I7 LIMS2_HUMAN LIMS2 LIM and senescent cell antigen-like-containing domain protein 2 341 38.9 2 Nucleus; Cell junction; Cell membrane 0 1 Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 1 1 5 2006-12-12 Q7Z6B0 CCD91_HUMAN CCDC91 Coiled-coil domain-containing protein 91 441 50 12 Membrane; Golgi apparatus 0 0 1 1 5 2005-03-29 Q7Z6V5 ADAT2_HUMAN ADAT2 tRNA-specific adenosine-34 deaminase catalytic subunit ADAT2 191 21 6 3.5.4.33 Nucleus; Cytoplasm 0 0 1 1 5 2007-05-15 Q7Z7E8 UB2Q1_HUMAN UBE2Q1 Ubiquitin-conjugating enzyme E2 Q1 422 46.1 1 2.3.2.23 Nucleus; Cell projection; Cytoplasm 0 0 1 1 5 2006-02-21 Q86SQ4 AGRG6_HUMAN ADGRG6 Adhesion G protein-coupled receptor G6 1221 136.7 6 Cell membrane 7 1 Lethal congenital contracture syndrome 9 1 1 5 2004-07-19 Q86UT5 NHRF4_HUMAN NHERF4 Na(+)/H(+) exchange regulatory cofactor NHE-RF4 571 61 11 Cell membrane; Cytoplasm 0 0 1 1 5 2005-08-16 Q86UY5 SCK1A_HUMAN SACK1A Scaffolding CK1 anchoring protein A 434 47.5 8 Cytoplasm; Mitochondrion 0 0 1 1 5 2007-05-15 Q86Y97 KMT5C_HUMAN KMT5C Histone-lysine N-methyltransferase KMT5C 462 52.1 19 Nucleus; Chromosome 0 0 1 1 5 2007-04-03 Q8IU80 TMPS6_HUMAN TMPRSS6 Transmembrane protease serine 6 811 90 22 3.4.21.- Cell membrane 1 1 Iron-refractory iron deficiency anemia 1 1 5 2003-09-26 Q8IVD9 NUDC3_HUMAN NUDCD3 NudC domain-containing protein 3 361 40.8 7 0 0 1 1 5 2005-05-10 Q8IWE4 DCNL3_HUMAN DCUN1D3 DCN1-like protein 3 304 34.3 16 Cell membrane; Cytoplasm; Nucleus 0 0 1 1 5 2008-02-26 Q8IWL3 HSC20_HUMAN HSCB Iron-sulfur cluster co-chaperone protein HscB 235 27.4 22 Cytoplasm 0 1 Anemia, sideroblastic, 5 1 1 5 2004-03-29 Q8IXS2 DRC2_HUMAN DRC2 Dynein regulatory complex subunit 2 484 57.3 12 Cytoplasm; Cell projection 0 1 Ciliary dyskinesia, primary, 27 1 1 5 2007-04-17 Q8IZF4 AGRG5_HUMAN ADGRG5 Adhesion G protein-coupled receptor G5 528 59 16 Cell membrane 7 0 1 1 5 2004-08-31 Q8N157 AHI1_HUMAN AHI1 Jouberin 1196 137.1 6 Cytoplasm; Cell junction 0 1 Joubert syndrome 3 1 1 5 2005-08-30 Q8N2I9 STK40_HUMAN STK40 Serine/threonine-protein kinase 40 435 49 1 2.7.11.1 Nucleus; Cytoplasm 0 0 1 1 5 2006-10-17 Q8N443 RIBC1_HUMAN RIBC1 RIB43A-like with coiled-coils protein 1 379 44 X Cytoplasm 0 0 1 1 5 2006-10-31 Q8N5D0 WDTC1_HUMAN WDTC1 WD and tetratricopeptide repeats protein 1 677 75.9 1 0 0 1 1 5 2004-01-16 Q8N6C8 LIRA3_HUMAN LILRA3 Leukocyte immunoglobulin-like receptor subfamily A member 3 439 47.5 Secreted 0 0 1 1 5 2003-10-03 Q8N720 ZN655_HUMAN ZNF655 Zinc finger protein 655 491 57.4 7 Nucleus 0 0 1 1 5 2005-02-01 Q8N9L9 ACOT4_HUMAN ACOT4 Peroxisomal succinyl-coenzyme A thioesterase 421 46.3 14 3.1.2.3 Peroxisome 0 0 1 1 5 2004-07-19 Q8NBQ5 DHB11_HUMAN HSD17B11 Estradiol 17-beta-dehydrogenase 11 300 33 4 1.1.1.62 Endoplasmic reticulum; Lipid droplet 0 0 1 1 5 2005-08-16 Q8NEN9 PDZD8_HUMAN PDZD8 PDZ domain-containing protein 8 1154 128.6 10 Endoplasmic reticulum membrane 1 1 Intellectual developmental disorder with autism and dysmorphic facies 1 1 5 2005-08-16 Q8NEZ2 VP37A_HUMAN VPS37A Vacuolar protein sorting-associated protein 37A 397 44.3 8 Late endosome membrane; Nucleus 0 1 Spastic paraplegia 53, autosomal recessive 1 1 5 2007-05-15 Q8NFU7 TET1_HUMAN TET1 Methylcytosine dioxygenase TET1 2136 235.3 10 1.14.11.80 Nucleus; Chromosome 0 0 1 1 5 2006-10-03 Q8NG08 HELB_HUMAN HELB DNA helicase B 1087 123.3 12 5.6.2.3 Nucleus; Cytoplasm; Chromosome 0 0 1 1 5 2008-06-10 Q8NHU6 TDRD7_HUMAN TDRD7 Tudor domain-containing protein 7 1098 123.6 9 Cytoplasm 0 1 Cataract 36 1 1 5 2004-06-21 Q8NHV1 GIMA7_HUMAN GIMAP7 GTPase IMAP family member 7 300 34.5 7 Lipid droplet; Cytoplasm; Endoplasmic reticulum; Golgi apparatus 0 0 1 1 5 2004-11-23 Q8NI17 IL31R_HUMAN IL31RA Interleukin-31 receptor subunit alpha 732 83 5 Cell membrane; Presynaptic cell membrane; Cell projection 1 1 Amyloidosis, primary localized cutaneous, 2 1 1 5 2007-02-06 Q8TBG4 AT2L1_HUMAN ETNPPL Ethanolamine-phosphate phospho-lyase 499 55.7 4 4.2.3.2 Mitochondrion 0 0 1 1 5 2007-05-15 Q8TCJ2 STT3B_HUMAN STT3B Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B 826 93.7 3 2.4.99.18 Endoplasmic reticulum; Endoplasmic reticulum membrane 13 1 Congenital disorder of glycosylation 1X 1 1 5 2006-07-11 Q8TD30 ALAT2_HUMAN GPT2 Alanine aminotransferase 2 523 57.9 16 2.6.1.2 0 1 Neurodevelopmental disorder with spastic paraplegia and microcephaly 1 1 5 2006-07-25 Q8TD57 DYH3_HUMAN DNAH3 Dynein axonemal heavy chain 3 4116 470.8 16 Cytoplasm; Cell projection 0 0 1 1 5 2008-02-26 Q8TEA8 DTD1_HUMAN DTD1 D-aminoacyl-tRNA deacylase 1 209 23.4 20 3.1.1.96 Nucleus; Cytoplasm 0 0 1 1 5 2003-03-28 Q8TEH3 DEN1A_HUMAN DENND1A DENN domain-containing protein 1A 1009 110.6 9 Cytoplasmic vesicle; Presynaptic cell membrane 0 0 1 1 5 2006-06-27 Q8TF40 FNIP1_HUMAN FNIP1 Folliculin-interacting protein 1 1166 130.6 5 Lysosome membrane; Cytoplasm 0 1 Immunodeficiency 93 and hypertrophic cardiomyopathy 1 1 5 2007-10-23 Q8WU39 MZB1_HUMAN MZB1 Marginal zone B- and B1-cell-specific protein 189 20.7 5 Endoplasmic reticulum lumen; Secreted 0 0 1 1 5 2008-02-26 Q8WUD6 CHPT1_HUMAN CHPT1 Cholinephosphotransferase 1 406 45.1 12 2.7.8.2 Golgi apparatus membrane 10 0 1 1 5 2007-05-29 Q8WUU5 GATD1_HUMAN GATAD1 GATA zinc finger domain-containing protein 1 269 28.7 7 Nucleus 0 1 Cardiomyopathy, dilated, 2B 1 1 5 2007-05-29 Q8WV28 BLNK_HUMAN BLNK B-cell linker protein 456 50.5 10 Cytoplasm; Cell membrane 0 1 Agammaglobulinemia 4, autosomal recessive 1 1 5 2005-11-22 Q8WV99 ZFN2B_HUMAN ZFAND2B AN1-type zinc finger protein 2B 257 28 2 Endoplasmic reticulum membrane 0 0 1 1 5 2006-04-18 Q8WWH5 TRUB1_HUMAN TRUB1 Pseudouridylate synthase TRUB1 349 37.3 10 5.4.99.- Nucleus; Cytoplasm 0 0 1 1 5 2006-10-03 Q8WWP7 GIMA1_HUMAN GIMAP1 GTPase IMAP family member 1 306 34.4 7 Endoplasmic reticulum membrane; Golgi apparatus membrane 1 0 1 1 5 2003-11-14 Q8WWV3 RT4I1_HUMAN RTN4IP1 NAD(P)H oxidoreductase RTN4IP1, mitochondrial 396 43.6 6 1.6.5.- Mitochondrion matrix; Mitochondrion outer membrane 0 1 Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures 1 1 5 2005-09-27 Q8WXG8 S100Z_HUMAN S100Z Protein S100-Z 99 11.6 5 0 0 1 1 5 2002-04-16 Q8WY91 THAP4_HUMAN THAP4 Peroxynitrite isomerase THAP4 577 62.9 2 5.99.-.- Cytoplasm; Nucleus 0 0 1 1 5 2003-04-11 Q8WZ19 BACD1_HUMAN KCTD13 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1 329 36.4 16 Nucleus; Cytoplasm 0 0 1 1 5 2004-08-31 Q92562 FIG4_HUMAN FIG4 Polyphosphoinositide phosphatase 907 103.6 6 3.1.3.-, 3.1.3.36, 3.1.3.86 Endosome membrane 0 4 Charcot-Marie-Tooth disease, demyelinating, type 4J; Amyotrophic lateral sclerosis 11; Yunis-Varon syndrome; Polymicrogyria, bilateral temporooccipital 1 1 5 1997-11-01 Q92565 RPGF5_HUMAN RAPGEF5 Rap guanine nucleotide exchange factor 5 580 67.7 7 Nucleus 0 0 1 1 5 2003-06-20 Q92575 UBXN4_HUMAN UBXN4 UBX domain-containing protein 4 508 56.8 2 Endoplasmic reticulum membrane; Nucleus envelope 0 0 1 1 5 2003-05-16 Q92615 LAR4B_HUMAN LARP4B La-related protein 4B 738 80.6 10 Cytoplasm 0 0 1 1 5 2007-03-20 Q92832 NELL1_HUMAN NELL1 Protein kinase C-binding protein NELL1 810 89.6 11 Cytoplasm; Nucleus envelope; Secreted 0 0 1 1 5 1997-11-01 Q96AG3 S2546_HUMAN SLC25A46 Mitochondrial outer membrane protein SLC25A46 418 46.2 5 Mitochondrion outer membrane 6 2 Neuropathy, hereditary motor and sensory, 6B, with optic atrophy; Pontocerebellar hypoplasia 1E 1 1 5 2007-06-26 Q96AZ1 EFMT3_HUMAN EEF1AKMT3 EEF1A lysine methyltransferase 3 226 24.9 12 2.1.1.- Cytoplasm 0 0 1 1 5 2007-06-26 Q96C74 ROP1L_HUMAN ROPN1L Ropporin-1-like protein 230 26.1 5 Cell projection 0 0 1 1 5 2007-10-23 Q96EF0 MTMR8_HUMAN MTMR8 Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8 704 78.9 X 3.1.3.95 Nucleus envelope 0 0 1 1 5 2008-04-29 Q96F24 NRBF2_HUMAN NRBF2 Nuclear receptor-binding factor 2 287 32.4 10 Nucleus; Cytoplasm; Cytoplasmic vesicle 0 0 1 1 5 2006-05-16 Q96JA3 PKHA8_HUMAN PLEKHA8 Pleckstrin homology domain-containing family A member 8 519 58.3 7 Golgi apparatus 0 0 1 1 5 2007-10-02 Q96K30 RITA1_HUMAN RITA1 RBPJ-interacting and tubulin-associated protein 1 269 28.6 12 Cytoplasm; Nucleus 0 0 1 1 5 2007-07-10 Q96LL9 DJC30_HUMAN DNAJC30 DnaJ homolog subfamily C member 30, mitochondrial 226 26 7 Mitochondrion inner membrane 1 1 Leber-like hereditary optic neuropathy, autosomal recessive 1 1 1 5 2002-10-10 Q96MN2 NALP4_HUMAN NLRP4 NACHT, LRR and PYD domains-containing protein 4 994 113.4 19 0 0 1 1 5 2002-05-02 Q96MR6 CFA57_HUMAN CFAP57 Cilia- and flagella-associated protein 57 1250 145 1 Cytoplasm 0 1 Spermatogenic failure 95 1 1 5 2006-06-27 Q96P48 ARAP1_HUMAN ARAP1 Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 1450 162.2 11 Cytoplasm; Golgi apparatus; Cell membrane; Endosome; Cell projection; Early endosome 0 0 1 1 5 2003-01-27 Q96PU8 QKI_HUMAN QKI KH domain-containing RNA-binding protein QKI 341 37.7 6 Nucleus; Cytoplasm 0 0 1 1 5 2006-06-13 Q96PZ0 PUS7_HUMAN PUS7 Pseudouridylate synthase 7 homolog 661 75 7 5.4.99.- Nucleus 0 1 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 1 1 5 2003-09-26 Q96SI9 STRBP_HUMAN STRBP Spermatid perinuclear RNA-binding protein 672 73.7 9 Cytoplasm 0 0 1 1 5 2007-02-06 Q96SZ4 ZSC10_HUMAN ZSCAN10 Zinc finger and SCAN domain-containing protein 10 780 86.8 16 Nucleus 0 1 Otofacial neurodevelopmental syndrome 1 1 5 2004-11-23 Q96TC7 RMD3_HUMAN RMDN3 Regulator of microtubule dynamics protein 3 470 52.1 15 Mitochondrion outer membrane; Cytoplasm; Nucleus 1 0 1 1 5 2007-05-15 Q99062 CSF3R_HUMAN CSF3R Granulocyte colony-stimulating factor receptor 836 92.2 1 Cell membrane 1 2 Hereditary neutrophilia; Neutropenia, severe congenital 7, autosomal recessive 1 1 5 1995-02-01 Q99719 SEPT5_HUMAN SEPTIN5 Septin-5 369 42.8 22 Cytoplasm 0 0 1 1 5 2000-05-30 Q9BQ39 DDX50_HUMAN DDX50 ATP-dependent RNA helicase DDX50 737 82.6 10 3.6.4.13 Nucleus; Cytoplasm 0 0 1 1 5 2004-11-23 Q9BQA9 CYBC1_HUMAN CYBC1 Cytochrome b-245 chaperone 1 187 20.8 17 Endoplasmic reticulum membrane 1 1 Granulomatous disease, chronic, autosomal recessive, 5 1 1 5 2007-03-20 Q9BQG2 NUD12_HUMAN NUDT12 NAD-capped RNA hydrolase NUDT12 462 52.1 5 3.6.1.- Cytoplasm; Peroxisome; Cytoplasmic granule 0 0 1 1 5 2005-07-05 Q9BR61 ACBD6_HUMAN ACBD6 Acyl-CoA-binding domain-containing protein 6 282 31.2 1 Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with progressive movement abnormalities 1 1 5 2006-04-18 Q9BSE4 HERP2_HUMAN HERPUD2 Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein 406 45.1 7 Membrane 1 0 1 1 5 2007-03-20 Q9BSF4 TIM29_HUMAN TIMM29 Mitochondrial import inner membrane translocase subunit Tim29 260 29.2 19 Mitochondrion inner membrane 1 0 1 1 5 2007-01-09 Q9BUJ2 HNRL1_HUMAN HNRNPUL1 Heterogeneous nuclear ribonucleoprotein U-like protein 1 856 95.7 19 Nucleus 0 0 1 1 5 2006-03-21 Q9BUL5 PHF23_HUMAN PHF23 PHD finger protein 23 403 43.8 17 Nucleus; Cytoplasm 0 0 1 1 5 2007-09-11 Q9BUT1 DHRS6_HUMAN BDH2 Dehydrogenase/reductase SDR family member 6 245 26.7 4 1.1.1.- Cytoplasm 0 0 1 1 5 2005-10-11 Q9BVG9 PTSS2_HUMAN PTDSS2 Phosphatidylserine synthase 2 487 56.3 11 2.7.8.29 Endoplasmic reticulum membrane 7 0 1 1 5 2004-06-21 Q9BVS5 TR61B_HUMAN TRMT61B tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial 477 53 2 2.1.1.220 Mitochondrion matrix 0 0 1 1 5 2007-12-04 Q9BXA9 SALL3_HUMAN SALL3 Sal-like protein 3 1300 135.3 18 Nucleus 0 0 1 1 5 2002-05-02 Q9BXM0 PRAX_HUMAN PRX Periaxin 1461 154.9 19 Cell membrane; Cell junction 0 2 Dejerine-Sottas syndrome; Charcot-Marie-Tooth disease, demyelinating, type 4F 1 1 5 2002-04-16 Q9BXS1 IDI2_HUMAN IDI2 Isopentenyl-diphosphate delta-isomerase 2 227 26.8 10 5.3.3.2 Peroxisome 0 0 1 1 5 2002-05-15 Q9BXT8 RNF17_HUMAN RNF17 RING finger protein 17 1623 184.6 13 Cytoplasm; Nucleus 0 0 1 1 5 2001-10-24 Q9BY14 TX101_HUMAN TEX101 Testis-expressed protein 101 249 26.7 19 Cell membrane; Membrane raft; Cytoplasmic vesicle; Secreted 0 0 1 1 5 2006-07-25 Q9BY44 EIF2A_HUMAN EIF2A Eukaryotic translation initiation factor 2A 585 65 3 0 0 1 1 5 2007-05-01 Q9BYH1 SE6L1_HUMAN SEZ6L Seizure 6-like protein 1024 111.8 22 Endoplasmic reticulum membrane 1 0 1 1 5 2002-07-26 Q9C0A0 CNTP4_HUMAN CNTNAP4 Contactin-associated protein-like 4 1308 145.3 16 Presynaptic cell membrane 1 0 1 1 5 2001-12-05 Q9H0C1 ZMY12_HUMAN ZMYND12 Zinc finger MYND domain-containing protein 12 365 41.8 1 Cell projection 0 0 1 1 5 2004-05-10 Q9H2S9 IKZF4_HUMAN IKZF4 Zinc finger protein Eos 585 64.1 12 Nucleus 0 0 1 1 5 2007-09-11 Q9H3F6 BACD3_HUMAN KCTD10 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 313 35.4 12 Nucleus 0 0 1 1 5 2006-07-25 Q9H3J6 MTRFR_HUMAN MTRFR Mitochondrial translation release factor in rescue 166 18.8 12 Mitochondrion 0 2 Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive 1 1 5 2007-12-04 Q9H3N1 TMX1_HUMAN TMX1 Thioredoxin-related transmembrane protein 1 280 31.8 14 Endoplasmic reticulum membrane; Mitochondrion membrane; Secreted 1 0 1 1 5 2004-05-10 Q9H4L4 SENP3_HUMAN SENP3 Sentrin-specific protease 3 574 65 17 3.4.22.- Nucleus; Cytoplasm 0 0 1 1 5 2002-11-28 Q9H773 DCTP1_HUMAN DCTPP1 dCTP pyrophosphatase 1 170 18.7 16 3.6.1.12 Mitochondrion; Nucleus; Cytoplasm 0 0 1 1 5 2007-06-26 Q9H903 MTD2L_HUMAN MTHFD2L Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial 347 37.3 4 Mitochondrion inner membrane 0 0 1 1 5 2008-05-20 Q9H981 ARP8_HUMAN ACTR8 Actin-related protein 8 624 70.5 3 Nucleus; Chromosome 0 0 1 1 5 2003-01-27 Q9H9E3 COG4_HUMAN COG4 Conserved oligomeric Golgi complex subunit 4 785 89.1 16 Cytoplasm; Golgi apparatus membrane 0 2 Congenital disorder of glycosylation 2J; Saul-Wilson syndrome 1 1 5 2002-08-30 Q9HAP6 LIN7B_HUMAN LIN7B Protein lin-7 homolog B 207 22.9 19 Cell membrane; Basolateral cell membrane; Cell junction; Postsynaptic density membrane 0 0 1 1 5 2005-02-15 Q9HAZ1 CLK4_HUMAN CLK4 Dual specificity protein kinase CLK4 481 57.5 5 2.7.12.1 Nucleus 0 0 1 1 5 2003-09-19 Q9HB21 PKHA1_HUMAN PLEKHA1 Pleckstrin homology domain-containing family A member 1 404 45.6 10 Cytoplasm; Cell membrane; Nucleus 0 0 1 1 5 2004-03-29 Q9HCE0 EPG5_HUMAN EPG5 Ectopic P granules protein 5 homolog 2579 292.5 18 Cytoplasm; Lysosome 0 2 Vici syndrome; Neurodevelopmental disorder with parkinsonism or other movement abnormalities 1 1 5 2007-10-02 Q9HCF6 TRPM3_HUMAN TRPM3 Transient receptor potential cation channel subfamily M member 3 1732 197.6 9 Cell membrane 6 2 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures; Cataract 50 with or without glaucoma 1 1 5 2002-05-10 Q9NP90 RAB9B_HUMAN RAB9B Ras-related protein Rab-9B 201 22.7 X 3.6.5.2 Cell membrane; Cytoplasmic vesicle 0 0 1 1 5 2001-02-21 Q9NP95 FGF20_HUMAN FGF20 Fibroblast growth factor 20 211 23.5 8 Secreted 0 1 Renal hypodysplasia/aplasia 2 1 1 5 2001-04-27 Q9NPA8 ENY2_HUMAN ENY2 Transcription and mRNA export factor ENY2 101 11.5 8 Nucleus 0 0 1 1 5 2008-01-15 Q9NPC7 MYNN_HUMAN MYNN Myoneurin 610 68.7 3 Nucleus 0 0 1 1 5 2006-09-05 Q9NPD5 SO1B3_HUMAN SLCO1B3 Solute carrier organic anion transporter family member 1B3 702 77.4 12 Basolateral cell membrane; Basal cell membrane 12 1 Hyperbilirubinemia, Rotor type 1 1 5 2003-01-10 Q9NQH7 XPP3_HUMAN XPNPEP3 Xaa-Pro aminopeptidase 3 507 57 22 3.4.11.9 Mitochondrion; Cytoplasm 0 1 Nephronophthisis-like nephropathy 1 1 1 5 2006-10-31 Q9NQV5 PRD11_HUMAN PRDM11 PR domain-containing protein 11 511 57.9 11 2.1.1.- Nucleus; Cytoplasm 0 0 1 1 5 2002-11-08 Q9NQV6 PRD10_HUMAN PRDM10 PR domain zinc finger protein 10 1147 130.1 11 Nucleus 0 1 Birt-Hogg-Dube syndrome 2 1 1 5 2001-11-16 Q9NR16 C163B_HUMAN CD163L1 Scavenger receptor cysteine-rich type 1 protein M160 1453 159.2 12 Cell membrane 1 0 1 1 5 2006-01-10 Q9NR45 SIAS_HUMAN NANS N-acetylneuraminate-9-phosphate synthase 359 40.3 9 2.5.1.57 0 1 Spondyloepimetaphyseal dysplasia, Genevieve type 1 1 5 2002-05-15 Q9NRG1 PRDC1_HUMAN PRTFDC1 Phosphoribosyltransferase domain-containing protein 1 225 25.7 10 0 0 1 1 5 2008-02-05 Q9NRI5 DISC1_HUMAN DISC1 Disrupted in schizophrenia 1 protein 854 93.6 1 Cytoplasm; Mitochondrion; Postsynaptic density 0 1 Schizophrenia 9 1 1 5 2001-11-16 Q9NRJ3 CCL28_HUMAN CCL28 C-C motif chemokine 28 127 14.3 5 Secreted 0 0 1 1 5 2001-01-11 Q9NS23 RASF1_HUMAN RASSF1 Ras association domain-containing protein 1 344 39.2 3 Cytoplasm; Nucleus 0 0 1 1 5 2004-07-19 Q9NS40 KCNH7_HUMAN KCNH7 Voltage-gated inwardly rectifying potassium channel KCNH7 1196 135 2 Cell membrane 6 0 1 1 5 2002-11-28 Q9NTM9 CUTC_HUMAN CUTC Copper homeostasis protein cutC homolog 273 29.3 10 Cytoplasm; Nucleus 0 0 1 1 5 2004-10-11 Q9NV23 SAST_HUMAN OLAH S-acyl fatty acid synthase thioesterase, medium chain 265 29.9 10 3.1.2.14 Cytoplasm 0 0 1 1 5 2004-09-27 Q9NXG2 THUM1_HUMAN THUMPD1 THUMP domain-containing protein 1 353 39.3 16 0 1 Neurodevelopmental disorder with speech delay and variable ocular anomalies 1 1 5 2004-07-05 Q9NY25 CLC5A_HUMAN CLEC5A C-type lectin domain family 5 member A 188 21.5 7 Cell membrane 1 0 1 1 5 2005-02-15 Q9NY56 OBP2A_HUMAN OBP2A Odorant-binding protein 2a 170 19.3 9 Secreted 0 0 1 1 5 2002-04-03 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I-specific transcription initiation factor RRN3 651 74.1 16 Nucleus 0 0 1 1 5 2006-01-24 Q9NYY1 IL20_HUMAN IL20 Interleukin-20 176 20.1 1 Secreted 0 0 1 1 5 2001-11-16 Q9NZC7 WWOX_HUMAN WWOX WW domain-containing oxidoreductase 414 46.7 16 1.1.1.- Cytoplasm; Nucleus; Mitochondrion; Golgi apparatus; Lysosome 0 3 Esophageal cancer; Spinocerebellar ataxia, autosomal recessive, 12; Developmental and epileptic encephalopathy 28 1 1 5 2005-11-22 Q9P0S9 TM14C_HUMAN TMEM14C Transmembrane protein 14C 112 11.6 6 Mitochondrion membrane 4 0 1 1 5 2003-01-10 Q9P225 DYH2_HUMAN DNAH2 Dynein axonemal heavy chain 2 4427 507.7 17 Cytoplasm 0 1 Spermatogenic failure 45 1 1 5 2008-02-26 Q9P2R6 RERE_HUMAN RERE Arginine-glutamic acid dipeptide repeats protein 1566 172.4 1 Nucleus 0 1 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 1 1 5 2006-01-10 Q9UBB9 TFP11_HUMAN TFIP11 Tuftelin-interacting protein 11 837 96.8 22 Cytoplasm; Nucleus 0 0 1 1 5 2002-08-02 Q9UBX0 HESX1_HUMAN HESX1 Homeobox expressed in ES cells 1 185 21.4 3 Nucleus 0 3 Septooptic dysplasia; Growth hormone deficiency with pituitary anomalies; Pituitary hormone deficiency, combined, 5 1 1 5 2001-01-11 Q9UGK3 STAP2_HUMAN STAP2 Signal-transducing adaptor protein 2 403 44.9 19 Cytoplasm 0 0 1 1 5 2005-04-12 Q9UHA7 IL36A_HUMAN IL36A Interleukin-36 alpha 158 17.7 2 Cytoplasm; Secreted 0 0 1 1 5 2002-11-08 Q9UHK0 NUFP1_HUMAN NUFIP1 FMR1-interacting protein NUFIP1 495 56.3 13 Nucleus 0 0 1 1 5 2006-07-11 Q9UHN6 CEIP2_HUMAN CEMIP2 Cell surface hyaluronidase CEMIP2 1383 154.4 9 3.2.1.35 Cell membrane 1 0 1 1 5 2007-06-12 Q9UI36 DACH1_HUMAN DACH1 Dachshund homolog 1 758 78.6 13 Nucleus 0 0 1 1 5 2004-03-01 Q9UIB8 SLAF5_HUMAN CD84 SLAM family member 5 345 38.8 1 Cell membrane 1 0 1 1 5 2006-10-03 Q9UID3 VPS51_HUMAN VPS51 Vacuolar protein sorting-associated protein 51 homolog 782 86 11 Golgi apparatus; Recycling endosome 0 1 Pontocerebellar hypoplasia 13 1 1 5 2005-07-19 Q9UJU6 DBNL_HUMAN DBNL Drebrin-like protein 430 48.2 7 Cytoplasm; Cell projection; Synapse; Perikaryon; Cell membrane; Cytoplasmic vesicle; Golgi apparatus membrane; Early endosome; Postsynaptic density 0 0 1 1 5 2004-08-16 Q9UK41 VPS28_HUMAN VPS28 Vacuolar protein sorting-associated protein 28 homolog 221 25.4 8 Cell membrane; Late endosome membrane 0 0 1 1 5 2001-02-21 Q9UKN7 MYO15_HUMAN MYO15A Unconventional myosin-XV 3530 395.3 17 Cell projection; Cytoplasm 0 1 Deafness, autosomal recessive, 3 1 1 5 2001-02-21 Q9UKT7 FBXL3_HUMAN FBXL3 F-box/LRR-repeat protein 3 428 48.7 13 Nucleus; Cytoplasm 0 1 Intellectual developmental disorder with short stature, facial anomalies, and speech defects 1 1 5 2003-10-03 Q9UKU7 ACAD8_HUMAN ACAD8 Isobutyryl-CoA dehydrogenase, mitochondrial 415 45.1 11 1.3.8.5 Mitochondrion 0 1 Isobutyryl-CoA dehydrogenase deficiency 1 1 5 2002-11-28 Q9UKV3 ACINU_HUMAN ACIN1 Apoptotic chromatin condensation inducer in the nucleus 1341 151.9 14 Nucleus; Nucleus speckle 0 0 1 1 5 2003-02-28 Q9UKY0 PRND_HUMAN PRND Prion-like protein doppel 176 20.3 20 Cell membrane 0 0 1 1 5 2002-09-19 Q9UL52 TM11E_HUMAN TMPRSS11E Transmembrane protease serine 11E 423 47.7 4 3.4.21.- Cell membrane 1 0 1 1 5 2001-10-18 Q9ULC6 PADI1_HUMAN PADI1 Protein-arginine deiminase type-1 663 74.7 1 3.5.3.15 Cytoplasm 0 0 1 1 5 2001-01-11 Q9ULW5 RAB26_HUMAN RAB26 Ras-related protein Rab-26 256 27.9 16 3.6.5.2 Golgi apparatus membrane; Cytoplasmic vesicle 0 0 1 1 5 2001-01-11 Q9UPT8 ZC3H4_HUMAN ZC3H4 Zinc finger CCCH domain-containing protein 4 1303 140.3 19 Chromosome 0 0 1 1 5 2006-05-02 Q9UPU9 SMAG1_HUMAN SAMD4A Protein Smaug homolog 1 718 79.4 14 Cytoplasm; Cell projection; Synapse 0 0 1 1 5 2003-09-19 Q9UQ90 SPG7_HUMAN SPG7 Mitochondrial inner membrane m-AAA protease component paraplegin 795 88.2 16 3.4.24.-, 3.6.-.- Mitochondrion inner membrane 2 1 Spastic paraplegia 7, autosomal recessive, with or without cerebellar ataxia 1 1 5 2001-04-27 Q9Y295 DRG1_HUMAN DRG1 Developmentally-regulated GTP-binding protein 1 367 40.5 22 Nucleus; Cytoplasm 0 1 Tan-Almurshedi syndrome 1 1 5 2000-05-30 Q9Y2H1 ST38L_HUMAN STK38L Serine/threonine-protein kinase 38-like 464 54 12 2.7.11.1 Cytoplasm; Membrane 0 0 1 1 5 2004-12-21 Q9Y2R4 DDX52_HUMAN DDX52 Probable ATP-dependent RNA helicase DDX52 599 67.5 17 3.6.4.13 Nucleus 0 0 1 1 5 2003-09-09 Q9Y2S2 CRYL1_HUMAN CRYL1 Lambda-crystallin homolog 319 35.4 13 1.1.1.45 Cytoplasm 0 0 1 1 5 2001-10-24 Q9Y397 ZDHC9_HUMAN ZDHHC9 Palmitoyltransferase ZDHHC9 364 40.9 X 2.3.1.225 Endoplasmic reticulum membrane; Golgi apparatus membrane 4 1 Intellectual developmental disorder, X-linked, syndromic, Raymond type 1 1 5 2003-02-01 Q9Y463 DYR1B_HUMAN DYRK1B Dual specificity tyrosine-phosphorylation-regulated kinase 1B 629 69.2 19 2.7.12.1 Nucleus; Chromosome 0 1 Abdominal obesity-metabolic syndrome 3 1 1 5 2000-12-01 Q9Y4G6 TLN2_HUMAN TLN2 Talin-2 2542 271.6 15 Cytoplasm; Cell junction; Synapse; Cell membrane 0 0 1 1 5 2002-10-25 Q9Y4G8 RPGF2_HUMAN RAPGEF2 Rap guanine nucleotide exchange factor 2 1499 167.4 4 Cytoplasm; Cell membrane; Late endosome; Cell junction 0 1 Epilepsy, familial adult myoclonic, 7 1 1 5 2003-08-29 Q9Y4K0 LOXL2_HUMAN LOXL2 Lysyl oxidase homolog 2 774 86.7 8 1.4.3.13 Secreted; Nucleus; Chromosome; Endoplasmic reticulum 0 0 1 1 5 2001-04-27 Q9Y5W8 SNX13_HUMAN SNX13 Sorting nexin-13 968 112.2 7 Early endosome membrane 0 0 1 1 5 2000-12-01 Q9Y600 CSAD_HUMAN CSAD Cysteine sulfinic acid decarboxylase 493 55 12 4.1.1.29 0 0 1 1 5 2000-05-30 Q9Y666 S12A7_HUMAN SLC12A7 Solute carrier family 12 member 7 1083 119.1 5 Cell membrane 12 0 1 1 5 2002-12-13 A6NI73 LIRA5_HUMAN LILRA5 Leukocyte immunoglobulin-like receptor subfamily A member 5 299 32.8 19 Cell membrane 1 0 1 1 5 2008-02-26 A6NK06 IRG1_HUMAN ACOD1 Cis-aconitate decarboxylase 481 52.6 13 4.1.1.6 Mitochondrion 0 0 1 1 5 2008-02-26 D6RGH6 MCIN_HUMAN MCIDAS Multicilin 385 41.7 5 Nucleus 0 1 Ciliary dyskinesia, primary, 42 1 1 5 2011-07-27 O00220 TR10A_HUMAN TNFRSF10A Tumor necrosis factor receptor superfamily member 10A 468 50.1 8 Cell membrane; Membrane raft; Cytoplasm 1 0 1 1 5 2001-09-26 O00287 RFXAP_HUMAN RFXAP Regulatory factor X-associated protein 272 28.2 13 Nucleus 0 1 MHC class II deficiency 4 1 1 5 1998-07-15 O00338 ST1C2_HUMAN SULT1C2 Sulfotransferase 1C2 296 34.9 2 2.8.2.1 Cytoplasm; Lysosome; Mitochondrion 0 0 1 1 5 2000-12-01 O00423 EMAL1_HUMAN EML1 Echinoderm microtubule-associated protein-like 1 815 89.9 14 Cytoplasm 0 1 Band heterotopia 1 1 5 2001-10-18 O00548 DLL1_HUMAN DLL1 Delta-like protein 1 723 78.1 6 Apical cell membrane; Cell junction; Membrane raft 1 1 Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures 1 1 5 1998-07-15 O14662 STX16_HUMAN STX16 Syntaxin-16 325 37 20 Golgi apparatus membrane 1 1 Pseudohypoparathyroidism 1B 1 1 5 2001-02-21 O14792 HS3S1_HUMAN HS3ST1 Heparan sulfate glucosamine 3-O-sulfotransferase 1 307 35.8 4 2.8.2.23 Golgi apparatus lumen 0 0 1 1 5 2005-03-15 O14832 PAHX_HUMAN PHYH Phytanoyl-CoA dioxygenase, peroxisomal 338 38.5 10 1.14.11.18 Peroxisome 0 1 Refsum disease 1 1 5 1999-07-15 O14863 ZNT4_HUMAN SLC30A4 Probable proton-coupled zinc antiporter SLC30A4 429 47.5 15 Endosome membrane; Late endosome membrane; Lysosome membrane; Cytoplasm 6 0 1 1 5 2000-05-30 O14879 IFIT3_HUMAN IFIT3 Interferon-induced protein with tetratricopeptide repeats 3 490 56 10 Cytoplasm; Mitochondrion 0 0 1 1 5 2000-05-30 O14977 AZIN1_HUMAN AZIN1 Antizyme inhibitor 1 448 49.5 8 Nucleus 0 0 1 1 5 2001-04-27 O15056 SYNJ2_HUMAN SYNJ2 Polyphosphatidylinositol phosphatase SYNJ2 1496 165.5 6 Cytoplasm; Cell membrane; Cell projection; Presynapse 0 0 1 1 5 2000-12-01 O15062 ZBTB5_HUMAN ZBTB5 Zinc finger and BTB domain-containing protein 5 677 74.3 9 Nucleus 0 0 1 1 5 2004-04-26 O15130 NPFF_HUMAN NPFF Pro-FMRFamide-related neuropeptide FF 113 12.4 12 Secreted 0 0 1 1 5 2000-05-30 O15244 S22A2_HUMAN SLC22A2 Solute carrier family 22 member 2 555 62.6 6 Basolateral cell membrane; Basal cell membrane; Apical cell membrane 12 0 1 1 5 2008-02-26 O15417 TNC18_HUMAN TNRC18 Trinucleotide repeat-containing gene 18 protein 2968 314.5 7 Nucleus; Chromosome 0 0 1 1 5 2007-08-21 O15503 INSI1_HUMAN INSIG1 Insulin-induced gene 1 protein 277 30 7 Endoplasmic reticulum membrane 6 0 1 1 5 2000-05-30 O43255 SIAH2_HUMAN SIAH2 E3 ubiquitin-protein ligase SIAH2 324 34.6 3 2.3.2.27 Cytoplasm; Nucleus 0 0 1 1 5 2004-04-26 O43312 MTSS1_HUMAN MTSS1 Protein MTSS 1 755 82.3 8 Cytoplasm 0 0 1 1 5 2001-02-21 O43482 MS18B_HUMAN OIP5 Protein Mis18-beta 229 24.7 15 Nucleus; Chromosome 0 0 1 1 5 2002-04-03 O43615 TIM44_HUMAN TIMM44 Mitochondrial import inner membrane translocase subunit TIM44 452 51.4 19 Mitochondrion inner membrane; Mitochondrion matrix 0 0 1 1 5 1999-07-15 O43921 EFNA2_HUMAN EFNA2 Ephrin-A2 213 23.9 19 Cell membrane 0 0 1 1 5 1998-12-15 O60333 KIF1B_HUMAN KIF1B Kinesin-like protein KIF1B 1816 204.5 1 5.6.1.3 Cytoplasm 0 3 Charcot-Marie-Tooth disease, axonal, type 2A1; Neuroblastoma 1; Pheochromocytoma 1 1 5 2001-01-11 O60479 DLX3_HUMAN DLX3 Homeobox protein DLX-3 287 31.7 17 Nucleus; Cytoplasm 0 2 Trichodentoosseous syndrome; Amelogenesis imperfecta 4 1 1 5 1998-12-15 O60543 CIDEA_HUMAN CIDEA Lipid transferase CIDEA 219 24.7 18 Lipid droplet; Nucleus 0 0 1 1 5 2000-12-01 O60583 CCNT2_HUMAN CCNT2 Cyclin-T2 730 81 2 Cytoplasm; Nucleus 0 0 1 1 5 2000-12-01 O60763 USO1_HUMAN USO1 General vesicular transport factor p115 962 107.9 4 Cytoplasm; Golgi apparatus membrane 0 0 1 1 5 2001-04-27 O75347 TBCA_HUMAN TBCA Tubulin-specific chaperone A 108 12.9 5 Cytoplasm 0 0 1 1 5 2000-05-30 O75366 AVIL_HUMAN AVIL Advillin 819 92 12 Cytoplasm; Cell projection; Cell junction 0 1 Nephrotic syndrome 21 1 1 5 2001-06-20 O75386 TULP3_HUMAN TULP3 Tubby-related protein 3 442 49.6 12 Cell projection; Cell membrane; Nucleus; Cytoplasm; Secreted 0 1 Hepatorenocardiac degenerative fibrosis 1 1 5 2000-05-30 O75478 TAD2A_HUMAN TADA2A Transcriptional adapter 2-alpha 443 51.5 Nucleus; Chromosome 0 0 1 1 5 2001-04-27 O75795 UDB17_HUMAN UGT2B17 UDP-glucuronosyltransferase 2B17 530 61.1 4 2.4.1.17 Endoplasmic reticulum membrane 1 0 1 1 5 1998-12-15 O76071 CIAO1_HUMAN CIAO1 Probable cytosolic iron-sulfur protein assembly protein CIAO1 339 37.8 2 Cytoplasm 0 1 Multiple mitochondrial dysfunctions syndrome 10 1 1 5 2001-01-11 O94875 SRBS2_HUMAN SORBS2 Sorbin and SH3 domain-containing protein 2 1100 124.1 4 Cytoplasm; Apical cell membrane; Cell junction; Cell projection 0 0 1 1 5 2008-07-22 O94916 NFAT5_HUMAN NFAT5 Nuclear factor of activated T-cells 5 1531 165.8 16 Nucleus; Cytoplasm; Chromosome 0 0 1 1 5 2000-12-01 O94927 HAUS5_HUMAN HAUS5 HAUS augmin-like complex subunit 5 633 71.7 19 Cytoplasm 0 0 1 1 5 2005-06-07 O95069 KCNK2_HUMAN KCNK2 Potassium channel subfamily K member 2 426 47.1 1 Cell projection; Postsynaptic density membrane; Cell membrane 4 0 1 1 5 2001-02-21 O95136 S1PR2_HUMAN S1PR2 Sphingosine 1-phosphate receptor 2 353 38.9 19 Cell membrane 7 1 Deafness, autosomal recessive, 68 1 1 5 2003-11-07 O95206 PCDH8_HUMAN PCDH8 Protocadherin-8 1070 113 13 Cell membrane; Cell projection; Presynaptic cell membrane; Postsynaptic cell membrane 1 0 1 1 5 2003-10-24 O95229 ZWINT_HUMAN ZWINT Outer kinetochore KNL1 complex subunit ZWINT 277 31.3 10 Nucleus; Chromosome 0 0 1 1 5 2002-07-11 P02585 TNNC2_HUMAN TNNC2 Troponin C, skeletal muscle 160 18.1 20 0 1 Congenital myopathy 15 1 1 5 1986-07-21 P02656 APOC3_HUMAN APOC3 Apolipoprotein C-III 99 10.9 11 Secreted 0 1 Hyperalphalipoproteinemia 2 1 1 5 1986-07-21 P02763 A1AG1_HUMAN ORM1 Alpha-1-acid glycoprotein 1 201 23.5 9 Secreted 0 0 1 1 5 1986-07-21 P04921 GLPC_HUMAN GYPC Glycophorin-C 128 13.8 2 Cell membrane 1 0 1 1 5 1987-08-13 P06340 DOA_HUMAN HLA-DOA HLA class II histocompatibility antigen, DO alpha chain 250 27.6 6 Endosome membrane; Lysosome membrane 1 0 1 1 5 1988-01-01 P06753 TPM3_HUMAN TPM3 Tropomyosin alpha-3 chain 285 33 1 Cytoplasm 0 2 Congenital myopathy 4A, autosomal dominant; Congenital myopathy 4B, autosomal recessive 1 1 5 1988-01-01 P09529 INHBB_HUMAN INHBB Inhibin beta B chain 407 45.1 2 Secreted 0 0 1 1 5 1989-07-01 P09913 IFIT2_HUMAN IFIT2 Interferon-induced protein with tetratricopeptide repeats 2 472 54.6 10 Cytoplasm; Endoplasmic reticulum 0 0 1 1 5 1989-07-01 P0C1S8 WEE2_HUMAN WEE2 Wee1-like protein kinase 2 567 62.9 7 2.7.10.2 Nucleus 0 1 Oocyte/zygote/embryo maturation arrest 5 1 1 5 2006-09-05 P0DN84 DWORF_HUMAN STRIT1 Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF 35 3.8 3 Sarcoplasmic reticulum membrane 1 0 1 1 5 2016-03-16 P10071 GLI3_HUMAN GLI3 Transcription activator GLI3 1580 169.9 7 Nucleus; Cytoplasm; Cell projection 0 5 Greig cephalo-poly-syndactyly syndrome; Pallister-Hall syndrome; Polydactyly, postaxial A1; Polydactyly, postaxial B; Polydactyly, preaxial 4 1 1 5 1989-07-01 P10589 COT1_HUMAN NR2F1 COUP transcription factor 1 423 46.2 5 Nucleus 0 1 Bosch-Boonstra-Schaaf optic atrophy syndrome 1 1 5 1989-07-01 P10720 PF4V_HUMAN PF4V1 Platelet factor 4 variant 104 11.6 4 Secreted 0 0 1 1 5 1989-07-01 P10768 ESTD_HUMAN ESD S-formylglutathione hydrolase 282 31.5 13 3.1.2.12 Cytoplasm; Cytoplasmic vesicle 0 0 1 1 5 1989-07-01 P11226 MBL2_HUMAN MBL2 Mannose-binding protein C 248 26.1 10 Secreted; Cell surface 0 0 1 1 5 1989-07-01 P12109 CO6A1_HUMAN COL6A1 Collagen alpha-1(VI) chain 1028 108.5 21 Secreted 0 2 Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A 1 1 5 1989-10-01 P13667 PDIA4_HUMAN PDIA4 Protein disulfide-isomerase A4 645 72.9 7 5.3.4.1 Endoplasmic reticulum lumen; Melanosome 0 0 1 1 5 1990-01-01 P14091 CATE_HUMAN CTSE Cathepsin E 396 42.8 1 3.4.23.34 Endosome 0 0 1 1 5 1990-01-01 P14209 CD99_HUMAN CD99 CD99 antigen 185 18.8 X Membrane 1 0 1 1 5 1990-01-01 P14679 TYRO_HUMAN TYR Tyrosinase 529 60.4 11 1.14.18.1 Melanosome membrane; Melanosome 1 2 Albinism, oculocutaneous, 1A; Albinism, oculocutaneous, 1B 1 1 5 1990-04-01 P15735 PHKG2_HUMAN PHKG2 Phosphorylase b kinase gamma catalytic chain, liver/testis isoform 406 46.4 16 2.7.11.19 0 1 Glycogen storage disease 9C 1 1 5 1990-04-01 P15976 GATA1_HUMAN GATA1 Erythroid transcription factor 413 42.8 X Nucleus 0 4 X-linked dyserythropoietic anemia and thrombocytopenia; Thrombocytopenia with beta-thalassemia, X-linked; Anemia without thrombocytopenia, X-linked; Anemia, congenital, non-spherocytic hemolytic, 9 1 1 5 1990-04-01 P18825 ADA2C_HUMAN ADRA2C Alpha-2C adrenergic receptor 462 49.5 4 Cell membrane 7 0 1 1 5 1990-11-01 P20073 ANXA7_HUMAN ANXA7 Annexin A7 488 52.7 10 0 0 1 1 5 1991-02-01 P21918 DRD5_HUMAN DRD5 Dopamine receptor D5 477 53 4 Cell membrane 7 1 Benign essential blepharospasm 1 1 5 1991-05-01 P22415 USF1_HUMAN USF1 Upstream stimulatory factor 1 310 33.5 1 Nucleus 0 1 Hyperlipidemia, familial combined, 1 1 1 5 1991-08-01 P23527 H2B1O_HUMAN H2BC17 Histone H2B type 1-O 126 13.9 6 Nucleus; Chromosome 0 0 1 1 5 1991-11-01 P24158 PRTN3_HUMAN PRTN3 Myeloblastin 256 27.8 19 3.4.21.76 Cytoplasmic granule; Secreted; Cell membrane; Membrane raft 0 0 1 1 5 1992-03-01 P26232 CTNA2_HUMAN CTNNA2 Catenin alpha-2 953 105.3 2 Cell membrane; Cytoplasm; Cell junction; Cell projection; Nucleus 0 1 Cortical dysplasia, complex, with other brain malformations 9 1 1 5 1992-05-01 P26717 NKG2C_HUMAN KLRC2 NKG2-C type II integral membrane protein 231 26.2 12 Cell membrane 1 0 1 1 5 1992-08-01 P26998 CRBB3_HUMAN CRYBB3 Beta-crystallin B3 211 24.3 22 0 1 Cataract 22, multiple types 1 1 5 1992-08-01 P27216 ANX13_HUMAN ANXA13 Annexin A13 316 35.4 8 Apical cell membrane; Cell membrane; Cytoplasmic vesicle 0 0 1 1 5 1992-08-01 P30520 PURA2_HUMAN ADSS2 Adenylosuccinate synthetase isozyme 2 456 50.1 1 6.3.4.4 Cytoplasm; Mitochondrion 0 0 1 1 5 1993-04-01 P30740 ILEU_HUMAN SERPINB1 Leukocyte elastase inhibitor 379 42.7 6 Secreted; Cytoplasm; Cytolytic granule; Early endosome 0 0 1 1 5 1993-04-01 P31213 S5A2_HUMAN SRD5A2 3-oxo-5-alpha-steroid 4-dehydrogenase 2 254 28.4 2 1.3.1.22 Microsome membrane; Endoplasmic reticulum membrane 4 1 Pseudovaginal perineoscrotal hypospadias 1 1 5 1993-07-01 P35749 MYH11_HUMAN MYH11 Myosin-11 1972 227.3 16 Melanosome 0 3 Aortic aneurysm, familial thoracic 4; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2; Visceral myopathy 2 1 1 5 1994-06-01 P36551 HEM6_HUMAN CPOX Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial 454 50.2 3 1.3.3.3 Mitochondrion intermembrane space 0 2 Hereditary coproporphyria; Harderoporphyria 1 1 5 1994-06-01 P36956 SRBP1_HUMAN SREBF1 Sterol regulatory element-binding protein 1 1147 121.7 17 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle 2 2 IFAP syndrome 2; Mucoepithelial dysplasia, hereditary 1 1 5 1994-06-01 P39059 COFA1_HUMAN COL15A1 Collagen alpha-1(XV) chain 1388 141.7 9 Secreted 0 0 1 1 5 1995-02-01 P43121 MUC18_HUMAN MCAM Cell surface glycoprotein MUC18 646 71.6 11 Membrane 1 0 1 1 5 1995-11-01 P43361 MAGA8_HUMAN MAGEA8 Melanoma-associated antigen 8 318 35.2 X 0 0 1 1 5 1995-11-01 P43897 EFTS_HUMAN TSFM Elongation factor Ts, mitochondrial 325 35.4 12 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 3 1 1 5 1995-11-01 P46459 NSF_HUMAN NSF Vesicle-fusing ATPase 744 82.6 17 3.6.4.6 Cytoplasm 0 1 Developmental and epileptic encephalopathy 96 1 1 5 1995-11-01 P47775 GPR12_HUMAN GPR12 G protein-coupled receptor 12 334 36.7 13 Cell membrane 7 0 1 1 5 1996-02-01 P47974 TISD_HUMAN ZFP36L2 mRNA decay activator protein ZFP36L2 494 51.1 2 Nucleus; Cytoplasm 0 1 Oocyte/zygote/embryo maturation arrest 13 1 1 5 1996-10-01 P48307 TFPI2_HUMAN TFPI2 Tissue factor pathway inhibitor 2 235 26.9 7 Secreted 0 0 1 1 5 1996-02-01 P48436 SOX9_HUMAN SOX9 Transcription factor SOX-9 509 56.1 17 Nucleus 0 3 Campomelic dysplasia; 46,XX sex reversal 2; 46,XY sex reversal 10 1 1 5 1996-02-01 P49756 RBM25_HUMAN RBM25 RNA-binding protein 25 843 100.2 14 Nucleus speckle; Cytoplasm 0 0 1 1 5 1996-10-01 P51116 FXR2_HUMAN FXR2 RNA-binding protein FXR2 673 74.2 17 Cytoplasm; Postsynapse 0 0 1 1 5 1996-10-01 P51148 RAB5C_HUMAN RAB5C Ras-related protein Rab-5C 216 23.5 17 3.6.5.2 Cell membrane; Early endosome membrane; Melanosome 0 0 1 1 5 1996-10-01 P51687 SUOX_HUMAN SUOX Sulfite oxidase, mitochondrial 545 60.3 12 1.8.3.1 Mitochondrion intermembrane space 0 1 Sulfite oxidase deficiency, isolated 1 1 5 1996-10-01 P52757 CHIO_HUMAN CHN2 Beta-chimaerin 468 53.9 7 Membrane 0 0 1 1 5 1996-10-01 P53680 AP2S1_HUMAN AP2S1 AP-2 complex subunit sigma 142 17 19 Cell membrane; Membrane 0 1 Hypocalciuric hypercalcemia, familial 3 1 1 5 1996-10-01 P55075 FGF8_HUMAN FGF8 Fibroblast growth factor 8 233 26.5 10 Secreted 0 2 Hypogonadotropic hypogonadism 6 with or without anosmia; Hypoplastic femurs and pelvis 1 1 5 1996-10-01 P55285 CADH6_HUMAN CDH6 Cadherin-6 790 88.3 5 Cell membrane 1 0 1 1 5 1996-10-01 P55774 CCL18_HUMAN CCL18 C-C motif chemokine 18 89 9.8 17 Secreted 0 0 1 1 5 1997-11-01 P56159 GFRA1_HUMAN GFRA1 GDNF family receptor alpha-1 465 51.5 10 Cell membrane; Golgi apparatus; Endosome 0 1 Renal hypodysplasia/aplasia 4 1 1 5 1997-11-01 P56211 ARP19_HUMAN ARPP19 cAMP-regulated phosphoprotein 19 112 12.3 15 Cytoplasm 0 0 1 1 5 1998-07-15 P57739 CLD2_HUMAN CLDN2 Claudin-2 230 24.5 X Cell junction; Cell membrane 4 1 Azoospermia, obstructive, with nephrolithiasis 1 1 5 2001-01-11 P58401 NRX2B_HUMAN NRXN2 Neurexin-2-beta 666 70.9 11 Presynaptic cell membrane 1 0 1 1 5 2001-11-16 P61019 RAB2A_HUMAN RAB2A Ras-related protein Rab-2A 212 23.5 8 3.6.5.2 Endoplasmic reticulum-Golgi intermediate compartment membrane; Melanosome; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle 0 0 1 1 5 2004-04-26 P67812 SC11A_HUMAN SEC11A Signal peptidase complex catalytic subunit SEC11A 179 20.6 15 3.4.21.89 Endoplasmic reticulum membrane 1 0 1 1 5 2004-10-11 P78318 IGBP1_HUMAN IGBP1 Immunoglobulin-binding protein 1 339 39.2 X Cytoplasm 0 1 Intellectual developmental disorder, X-linked, syndromic 28 1 1 5 2001-06-01 Q01538 MYT1_HUMAN MYT1 Myelin transcription factor 1 1121 122.3 20 Nucleus 0 0 1 1 5 1993-07-01 Q01638 ILRL1_HUMAN IL1RL1 Interleukin-1 receptor-like 1 556 63.4 2 3.2.2.6 Cell membrane 1 0 1 1 5 1993-04-01 Q03135 CAV1_HUMAN CAV1 Caveolin-1 178 20.5 7 Golgi apparatus membrane; Cell membrane; Membrane; Membrane raft; Golgi apparatus; Cytoplasm 0 3 Lipodystrophy, congenital generalized, 3; Pulmonary hypertension, primary, 3; Lipodystrophy, familial partial, 7 1 1 5 1993-10-01 Q03154 ACY1_HUMAN ACY1 Aminoacylase-1 408 45.9 3 3.5.1.14 Cytoplasm 0 1 Aminoacylase-1 deficiency 1 1 5 1994-02-01 Q03167 TGBR3_HUMAN TGFBR3 Transforming growth factor beta receptor type 3 851 93.5 1 Cell membrane; Secreted 1 0 1 1 5 1994-02-01 Q03395 ROM1_HUMAN ROM1 Rod outer segment membrane protein 1 351 37.2 11 Photoreceptor inner segment membrane; Photoreceptor outer segment membrane 4 1 Retinitis pigmentosa 7 1 1 5 1993-10-01 Q03692 COAA1_HUMAN COL10A1 Collagen alpha-1(X) chain 680 66.2 6 Secreted 0 1 Schmid type metaphyseal chondrodysplasia 1 1 5 1995-11-01 Q05901 ACHB3_HUMAN CHRNB3 Neuronal acetylcholine receptor subunit beta-3 458 52.7 8 Synaptic cell membrane; Cell membrane 4 0 1 1 5 1994-06-01 Q10587 TEF_HUMAN TEF Thyrotroph embryonic factor 303 33.2 22 Nucleus 0 0 1 1 5 1996-10-01 Q12772 SRBP2_HUMAN SREBF2 Sterol regulatory element-binding protein 2 1141 123.7 22 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle 2 0 1 1 5 1998-07-15 Q13206 DDX10_HUMAN DDX10 Probable ATP-dependent RNA helicase DDX10 875 100.9 11 3.6.4.13 Cytoplasm; Nucleus 0 0 1 1 5 1998-07-15 Q13227 GPS2_HUMAN GPS2 G protein pathway suppressor 2 327 36.7 17 Nucleus; Mitochondrion; Cytoplasm 0 0 1 1 5 1997-11-01 Q13239 SLAP1_HUMAN SLA Src-like-adapter 276 31.2 8 Cytoplasm; Endosome 0 0 1 1 5 2003-04-23 Q13402 MYO7A_HUMAN MYO7A Unconventional myosin-VIIa 2215 254.4 11 Cytoplasm; Synapse 0 3 Usher syndrome 1B; Deafness, autosomal recessive, 2; Deafness, autosomal dominant, 11 1 1 5 2000-12-01 Q13609 DNSL3_HUMAN DNASE1L3 Deoxyribonuclease gamma 305 35.5 3 3.1.21.- Nucleus; Endoplasmic reticulum; Secreted 0 1 Systemic lupus erythematosus 16 1 1 5 1997-11-01 Q13733 AT1A4_HUMAN ATP1A4 Sodium/potassium-transporting ATPase subunit alpha-4 1029 114.2 1 7.2.2.13 Cell membrane 10 0 1 1 5 2001-10-18 Q13887 KLF5_HUMAN KLF5 Krueppel-like factor 5 457 50.8 13 Nucleus 0 0 1 1 5 1998-12-15 Q14002 CEAM7_HUMAN CEACAM7 Cell adhesion molecule CEACAM7 265 29.3 19 Cell membrane; Apical cell membrane 0 0 1 1 5 1999-07-15 Q14135 VGLL4_HUMAN VGLL4 Transcription cofactor vestigial-like protein 4 290 30.9 3 Nucleus 0 0 1 1 5 1997-11-01 Q14142 TRI14_HUMAN TRIM14 Tripartite motif-containing protein 14 442 49.8 9 Mitochondrion outer membrane; Cytoplasmic vesicle; Nucleus 0 0 1 1 5 1997-11-01 Q14154 DELE1_HUMAN DELE1 DAP3-binding cell death enhancer 1 515 55.9 5 Mitochondrion; Mitochondrion outer membrane; Mitochondrion inner membrane 0 0 1 1 5 1997-11-01 Q14240 IF4A2_HUMAN EIF4A2 Eukaryotic initiation factor 4A-II 407 46.4 3 3.6.4.13 0 1 Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures 1 1 5 1997-11-01 Q14244 MAP7_HUMAN MAP7 Ensconsin 749 84.1 6 Cytoplasm; Basolateral cell membrane 0 0 1 1 5 2006-10-31 Q14254 FLOT2_HUMAN FLOT2 Flotillin-2 428 47.1 17 Cell membrane; Membrane; Endosome 0 0 1 1 5 2001-02-21 Q14558 KPRA_HUMAN PRPSAP1 Phosphoribosyl pyrophosphate synthase-associated protein 1 356 39.4 17 0 0 1 1 5 2002-10-25 Q14679 TTLL4_HUMAN TTLL4 Tubulin monoglutamylase TTLL4 1199 133.4 2 6.3.2.- Cytoplasm; Cell projection 0 0 1 1 5 2002-05-02 Q14690 RRP5_HUMAN PDCD11 Protein RRP5 homolog 1871 208.7 10 Nucleus 0 0 1 1 5 1997-11-01 Q14934 NFAC4_HUMAN NFATC4 Nuclear factor of activated T-cells, cytoplasmic 4 902 95.4 14 Cytoplasm; Nucleus 0 0 1 1 5 2000-12-01 Q14CZ8 HECAM_HUMAN HEPACAM Hepatic and glial cell adhesion molecule 416 46 11 Cytoplasm; Cell membrane 1 2 Megalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without impaired intellectual development 1 1 5 2007-08-21 Q15506 SP17_HUMAN SPA17 Sperm surface protein Sp17 151 17.4 11 Membrane 0 0 1 1 5 1997-11-01 Q15697 ZN174_HUMAN ZNF174 Zinc finger protein 174 407 46.5 16 Nucleus 0 0 1 1 5 1998-07-15 Q15771 RAB30_HUMAN RAB30 Ras-related protein Rab-30 203 23.1 11 3.6.5.2 Membrane; Golgi apparatus; Golgi apparatus membrane; Cytoplasm; Cytoplasmic vesicle; Autolysosome membrane 0 0 1 1 5 1997-11-01 Q15772 SPEG_HUMAN SPEG Striated muscle preferentially expressed protein kinase 3267 354.3 2 2.7.11.1 Nucleus 0 1 Myopathy, centronuclear, 5 1 1 5 2000-05-30 Q16082 HSPB2_HUMAN HSPB2 Heat shock protein beta-2 182 20.2 11 Cytoplasm; Nucleus 0 0 1 1 5 1999-07-15 Q16384 SSX1_HUMAN SSX1 Protein SSX1 188 21.9 X Cytoplasm 0 1 Spermatogenic failure, X-linked, 5 1 1 5 1998-12-15 Q16515 ASIC2_HUMAN ASIC2 Acid-sensing ion channel 2 512 57.7 17 Cell membrane 2 0 1 1 5 1997-11-01 Q17R98 ZN827_HUMAN ZNF827 Zinc finger protein 827 1081 119.2 4 Nucleus; Chromosome 0 0 1 1 5 2008-03-18 Q2Y0W8 S4A8_HUMAN SLC4A8 Electroneutral sodium bicarbonate exchanger 1 1093 122.9 12 Apical cell membrane; Basolateral cell membrane; Cytoplasmic vesicle 11 0 1 1 5 2008-04-08 Q4LE39 ARI4B_HUMAN ARID4B AT-rich interactive domain-containing protein 4B 1312 147.8 1 Nucleus; Cytoplasm 0 0 1 1 5 2007-04-03 Q504Q3 PAN2_HUMAN PAN2 PAN2-PAN3 deadenylation complex catalytic subunit PAN2 1202 135.4 12 3.1.13.4 Cytoplasm; Nucleus 0 1 Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies 1 1 5 2007-03-20 Q53FP2 NACHO_HUMAN TMEM35A Novel acetylcholine receptor chaperone 167 18.4 X Peroxisome membrane; Cytoplasmic vesicle; Endoplasmic reticulum membrane 4 0 1 1 5 2007-01-09 Q53H82 LACB2_HUMAN LACTB2 Endoribonuclease LACTB2 288 32.8 8 3.1.27.- Mitochondrion matrix 0 0 1 1 5 2008-01-15 Q5EBL4 RIPL1_HUMAN RILPL1 RILP-like protein 1 403 47.1 12 Cytoplasm 0 1 Oculopharyngodistal myopathy 4 1 1 5 2007-09-11 Q5KU26 COL12_HUMAN COLEC12 Collectin-12 742 81.5 18 Membrane 1 0 1 1 5 2008-02-26 Q5SW96 ARH_HUMAN LDLRAP1 Low density lipoprotein receptor adapter protein 1 308 33.9 1 Cytoplasm 0 1 Hypercholesterolemia, familial, 4 1 1 5 2005-08-30 Q5T8D3 ACBD5_HUMAN ACBD5 Acyl-CoA-binding domain-containing protein 5 534 60.1 10 Peroxisome membrane 1 1 Retinal dystrophy with leukodystrophy 1 1 5 2007-05-15 Q5VSL9 STRP1_HUMAN STRIP1 Striatin-interacting protein 1 837 95.6 1 Cytoplasm 0 0 1 1 5 2005-08-02 Q5VUG0 SMBT2_HUMAN SFMBT2 Scm-like with four MBT domains protein 2 894 100.6 10 Nucleus 0 0 1 1 5 2005-06-07 Q5VV41 ARHGG_HUMAN ARHGEF16 Rho guanine nucleotide exchange factor 16 709 80.1 1 Cytoplasm 0 0 1 1 5 2006-05-02 Q5VZV1 MT21C_HUMAN METTL21C Protein-lysine methyltransferase METTL21C 264 29.6 13 2.1.1.- Nucleus; Cytoplasm 0 0 1 1 5 2008-02-26 Q5XPI4 RN123_HUMAN RNF123 E3 ubiquitin-protein ligase RNF123 1314 148.5 3 2.3.2.27 Cytoplasm 0 0 1 1 5 2006-10-03 Q674R7 ATG9B_HUMAN ATG9B Autophagy-related protein 9B 924 101 7 Preautophagosomal structure membrane 4 0 1 1 5 2008-01-15 Q68J44 DUS29_HUMAN DUSP29 Dual specificity phosphatase 29 220 25.3 10 Cytoplasm; Nucleus 0 0 1 1 5 2007-07-24 Q6DHV7 ADAL_HUMAN MAPDA N6-Methyl-AMP deaminase 355 40.3 15 3.5.4.- Cytoplasm 0 0 1 1 5 2007-05-01 Q6ISU1 PTCRA_HUMAN PTCRA Pre T-cell antigen receptor alpha 281 29.3 6 Membrane; Cell membrane 1 1 Immunodeficiency 126 1 1 5 2008-02-26 Q6P3S1 DEN1B_HUMAN DENND1B DENN domain-containing protein 1B 775 86.6 1 Cytoplasm; Cytoplasmic vesicle 0 1 Asthma 1 1 5 2007-09-11 Q6PCT2 FXL19_HUMAN FBXL19 F-box/LRR-repeat protein 19 694 75.7 16 Cytoplasm; Nucleus 0 0 1 1 5 2005-03-15 Q6PID8 KLD10_HUMAN KLHDC10 Kelch domain-containing protein 10 442 49.1 7 Nucleus; Cytoplasm 0 0 1 1 5 2008-02-26 Q6Q0C0 TRAF7_HUMAN TRAF7 E3 ubiquitin-protein ligase TRAF7 670 74.6 16 2.3.2.-, 2.3.2.27 Cytoplasmic vesicle; Cytoplasm; Nucleus 0 1 Cardiac, facial, and digital anomalies with developmental delay 1 1 5 2004-10-11 Q6XQN6 PNCB_HUMAN NAPRT Nicotinate phosphoribosyltransferase 538 57.6 8 6.3.4.21 Cytoplasm 0 0 1 1 5 2008-01-15 Q6ZMC9 SIG15_HUMAN SIGLEC15 Sialic acid-binding Ig-like lectin 15 328 35.7 18 Membrane 1 0 1 1 5 2007-07-10 Q6ZMI3 GLDN_HUMAN GLDN Gliomedin 551 59 15 Cell membrane; Cell projection 1 1 Lethal congenital contracture syndrome 11 1 1 5 2006-07-25 Q6ZMZ3 SYNE3_HUMAN SYNE3 Nesprin-3 975 112.2 14 Nucleus outer membrane; Nucleus envelope; Rough endoplasmic reticulum 1 0 1 1 5 2007-03-20 Q6ZN16 M3K15_HUMAN MAP3K15 Mitogen-activated protein kinase kinase kinase 15 1313 147.4 X 2.7.11.25 0 0 1 1 5 2006-10-17 Q6ZNL6 FGD5_HUMAN FGD5 FYVE, RhoGEF and PH domain-containing protein 5 1462 159.9 3 Cytoplasm; Cell projection; Endoplasmic reticulum; Golgi apparatus; Early endosome 0 0 1 1 5 2005-03-15 Q6ZSS7 MFSD6_HUMAN MFSD6 Major facilitator superfamily domain-containing protein 6 791 88.1 2 Cell membrane 12 0 1 1 5 2008-02-26 Q6ZTN6 AN13D_HUMAN ANKRD13D Ankyrin repeat domain-containing protein 13D 605 68.2 11 Cell membrane; Late endosome 0 0 1 1 5 2006-06-27 Q6ZU15 SEP14_HUMAN SEPTIN14 Septin-14 432 50 7 Cytoplasm; Cell projection; Perikaryon; Cytoplasmic vesicle 0 0 1 1 5 2007-07-10 Q6ZWJ1 STXB4_HUMAN STXBP4 Syntaxin-binding protein 4 553 61.7 17 Cytoplasm 0 0 1 1 5 2006-02-07 Q709F0 ACD11_HUMAN ACAD11 Acyl-CoA dehydrogenase family member 11 780 87.3 3 1.3.8.8 Peroxisome; Mitochondrion membrane 0 0 1 1 5 2006-10-31 Q7L0Q8 RHOU_HUMAN RHOU Rho-related GTP-binding protein RhoU 258 28.2 1 3.6.5.2 Cell membrane; Golgi apparatus membrane; Cell junction; Cell projection 0 0 1 1 5 2008-03-18 Q7L1W4 LRC8D_HUMAN LRRC8D Volume-regulated anion channel subunit LRRC8D 858 98.2 1 Cell membrane; Endoplasmic reticulum membrane 4 0 1 1 5 2004-08-31 Q7L273 KCTD9_HUMAN KCTD9 BTB/POZ domain-containing protein KCTD9 389 42.6 8 0 0 1 1 5 2004-07-19 Q7L5Y1 ENOF1_HUMAN ENOSF1 Mitochondrial enolase superfamily member 1 443 49.8 18 4.2.1.68 Mitochondrion 0 1 Dyskeratosis congenita, digenic 1 1 5 2008-04-29 Q7LFL8 CXXC5_HUMAN CXXC5 CXXC-type zinc finger protein 5 322 33 5 Nucleus; Cytoplasm 0 0 1 1 5 2008-02-05 Q7Z353 HDX_HUMAN HDX Highly divergent homeobox 690 77.2 X Nucleus 0 0 1 1 5 2007-09-11 Q7Z3Z2 RD3_HUMAN RD3 Protein RD3 195 22.7 1 Cell projection; Photoreceptor inner segment; Endosome; Nucleus; Cytoplasm 0 1 Leber congenital amaurosis 12 1 1 5 2005-07-19 Q7Z5P4 DHB13_HUMAN HSD17B13 17-beta-hydroxysteroid dehydrogenase 13 300 33.7 4 1.1.1.-, 1.1.1.62 Lipid droplet; Endoplasmic reticulum 0 0 1 1 5 2005-10-11 Q7Z7F0 KHDC4_HUMAN KHDC4 KH homology domain-containing protein 4 614 64.8 1 Nucleus; Cytoplasm 0 0 1 1 5 2007-07-24 Q86SE8 NPM2_HUMAN NPM2 Nucleoplasmin-2 214 24.2 8 Nucleus 0 0 1 1 5 2003-10-03 Q86TG7 PEG10_HUMAN PEG10 Retrotransposon-derived protein PEG10 708 80.2 7 Extracellular vesicle membrane; Cytoplasm; Nucleus 0 0 1 1 5 2008-03-18 Q86UE4 LYRIC_HUMAN MTDH Protein LYRIC 582 63.8 8 Endoplasmic reticulum membrane; Nucleus membrane; Cell junction; Nucleus; Cytoplasm 1 0 1 1 5 2004-12-21 Q86UR1 NOXA1_HUMAN NOXA1 NADPH oxidase activator 1 476 50.9 9 Cytoplasm; Cell membrane 0 0 1 1 5 2008-01-15 Q86UU9 TKN4_HUMAN TAC4 Tachykinin-4 113 12.3 17 Secreted 0 0 1 1 5 2008-02-26 Q86VZ1 P2RY8_HUMAN P2RY8 S-geranylgeranyl-glutathione receptor P2RY8 359 40.6 X Cell membrane 7 0 1 1 5 2006-02-07 Q86XE0 SNX32_HUMAN SNX32 Sorting nexin-32 403 46.4 11 Cell membrane; Early endosome; Golgi apparatus; Recycling endosome; Late endosome 0 0 1 1 5 2008-02-26 Q86XK2 FBX11_HUMAN FBXO11 F-box only protein 11 927 103.6 2 Nucleus; Chromosome 0 1 Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 1 5 2003-11-07 Q8IVH2 FOXP4_HUMAN FOXP4 Forkhead box protein P4 680 73.5 6 Nucleus 0 0 1 1 5 2004-04-13 Q8IVL8 CBPO_HUMAN CPO Carboxypeptidase O 374 42.5 2 3.4.17.- Apical cell membrane 0 0 1 1 5 2006-10-17 Q8IWG1 DNAI3_HUMAN DNAI3 Dynein axonemal intermediate chain 3 891 102.9 1 Cytoplasm 0 0 1 1 5 2006-05-02 Q8IX21 SLF2_HUMAN SLF2 SMC5-SMC6 complex localization factor protein 2 1173 131.9 10 Nucleus 0 1 Atelis syndrome 1 1 1 5 2005-08-16 Q8IXL6 FA20C_HUMAN FAM20C Extracellular serine/threonine protein kinase FAM20C 584 66.2 7 2.7.11.1 Golgi apparatus membrane; Secreted; Endoplasmic reticulum 1 1 Raine syndrome 1 1 5 2003-09-19 Q8IXQ5 KLHL7_HUMAN KLHL7 Kelch-like protein 7 586 66 7 Nucleus; Cytoplasm 0 2 Perching syndrome; Retinitis pigmentosa 42 1 1 5 2006-03-21 Q8N163 CCAR2_HUMAN CCAR2 Cell cycle and apoptosis regulator protein 2 923 102.9 8 Nucleus; Cytoplasm 0 0 1 1 5 2006-01-24 Q8N257 H2B3B_HUMAN H2BC26 Histone H2B type 3-B 126 13.9 1 Nucleus; Chromosome 0 0 1 1 5 2004-08-31 Q8N2G4 LYPD1_HUMAN LYPD1 Ly6/PLAUR domain-containing protein 1 141 15.2 2 Cell membrane 0 0 1 1 5 2006-03-07 Q8N5A5 ZGPAT_HUMAN ZGPAT Zinc finger CCCH-type with G patch domain-containing protein 531 57.4 20 Nucleus 0 0 1 1 5 2003-07-11 Q8N5M9 JAGN1_HUMAN JAGN1 Protein jagunal homolog 1 183 21.1 3 Endoplasmic reticulum membrane 4 1 Neutropenia, severe congenital 6, autosomal recessive 1 1 5 2008-01-15 Q8N6W0 CELF5_HUMAN CELF5 CUGBP Elav-like family member 5 485 52.4 19 Nucleus; Cytoplasm 0 0 1 1 5 2007-07-10 Q8NBJ4 GOLM1_HUMAN GOLM1 Golgi membrane protein 1 401 45.3 9 Golgi apparatus 1 0 1 1 5 2004-08-16 Q8ND30 LIPB2_HUMAN PPFIBP2 Liprin-beta-2 876 98.5 11 0 0 1 1 5 2004-02-16 Q8NDM7 CFA43_HUMAN CFAP43 Cilia- and flagella-associated protein 43 1665 192 10 Cell projection; Cytoplasm 0 2 Spermatogenic failure 19; Hydrocephalus, normal pressure, 1 1 1 5 2007-11-13 Q8NDZ2 SIMC1_HUMAN SIMC1 SUMO-interacting motif-containing protein 1 872 96.8 5 Nucleus 0 0 1 1 5 2006-10-03 Q8NEJ9 NGDN_HUMAN NGDN Neuroguidin 315 35.9 14 Nucleus; Chromosome; Cytoplasm; Cell projection 0 0 1 1 5 2004-04-13 Q8NEV4 MYO3A_HUMAN MYO3A Myosin-IIIa 1616 186.2 10 2.7.11.1 Cytoplasm; Cell projection 0 2 Deafness, autosomal recessive, 30; Deafness, autosomal dominant, 90 1 1 5 2004-04-26 Q8NFH8 REPS2_HUMAN REPS2 RalBP1-associated Eps domain-containing protein 2 660 71.5 X Cytoplasm 0 0 1 1 5 2003-08-15 Q8NFP9 NBEA_HUMAN NBEA Neurobeachin 2946 327.8 13 Cytoplasm; Membrane 0 1 Neurodevelopmental disorder with or without early-onset generalized epilepsy 1 1 5 2003-06-20 Q8NG27 PJA1_HUMAN PJA1 E3 ubiquitin-protein ligase Praja-1 643 71 X 2.3.2.27 0 0 1 1 5 2003-05-23 Q8NHH1 TTL11_HUMAN TTLL11 Tubulin polyglutamylase TTLL11 710 79.1 9 6.3.2.- Cytoplasm 0 0 1 1 5 2005-08-30 Q8NHU2 CFA61_HUMAN CFAP61 Cilia- and flagella-associated protein 61 1237 141.3 20 Cytoplasm; Cell projection 0 1 Spermatogenic failure 84 1 1 5 2003-02-28 Q8NHW3 MAFA_HUMAN MAFA Transcription factor MafA 353 37 8 Nucleus 0 1 Insulinomatosis and diabetes mellitus 1 1 5 2008-02-26 Q8TAB3 PCD19_HUMAN PCDH19 Protocadherin-19 1148 126.3 X Cell membrane 1 1 Developmental and epileptic encephalopathy 9 1 1 5 2004-01-16 Q8TBN0 R3GEF_HUMAN RAB3IL1 Guanine nucleotide exchange factor for Rab-3A 382 42.6 11 0 0 1 1 5 2007-10-02 Q8TCE6 DEN10_HUMAN DENND10 DENN domain-containing protein 10 357 40.5 10 Late endosome 0 0 1 1 5 2004-08-16 Q8TCY5 MRAP_HUMAN MRAP Melanocortin-2 receptor accessory protein 172 19.1 21 Cell membrane; Endoplasmic reticulum membrane 1 1 Glucocorticoid deficiency 2 1 1 5 2002-09-19 Q8TD06 AGR3_HUMAN AGR3 Anterior gradient protein 3 166 19.2 7 Endoplasmic reticulum 0 0 1 1 5 2005-05-10 Q8TDM6 DLG5_HUMAN DLG5 Disks large homolog 5 1919 213.9 10 Cell junction; Cell membrane; Postsynaptic density; Cytoplasm 0 1 Yuksel-Vogel-Bauer syndrome 1 1 5 2003-01-10 Q8TDQ1 CLM1_HUMAN CD300LF CMRF35-like molecule 1 290 32.3 17 Cell membrane 1 0 1 1 5 2006-07-25 Q8TE49 OTU7A_HUMAN OTUD7A OTU domain-containing protein 7A 926 100.7 15 3.4.19.12 Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with hypotonia and seizures 1 1 5 2004-08-31 Q8TE67 ES8L3_HUMAN EPS8L3 Epidermal growth factor receptor kinase substrate 8-like protein 3 593 66.9 1 Cytoplasm 0 1 Hypotrichosis 5 1 1 5 2006-05-30 Q8TEY7 UBP33_HUMAN USP33 Ubiquitin carboxyl-terminal hydrolase 33 942 106.7 1 3.4.19.12 Cytoplasm 0 0 1 1 5 2003-10-10 Q8TF65 GIPC2_HUMAN GIPC2 PDZ domain-containing protein GIPC2 315 34.4 1 Cytoplasm 0 0 1 1 5 2006-07-25 Q8WTU0 DDI1_HUMAN DDI1 Protein DDI1 homolog 1 396 44.1 11 3.4.23.- 0 0 1 1 5 2007-05-15 Q8WU08 ST32A_HUMAN STK32A Serine/threonine-protein kinase 32A 396 46.4 5 2.7.11.1 Cell membrane 0 0 1 1 5 2006-04-18 Q8WUA7 TB22A_HUMAN TBC1D22A TBC1 domain family member 22A 517 59.1 22 0 0 1 1 5 2002-11-08 Q8WUD1 RAB2B_HUMAN RAB2B Ras-related protein Rab-2B 216 24.2 14 3.6.5.2 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle 0 0 1 1 5 2003-02-12 Q8WV44 TRI41_HUMAN TRIM41 E3 ubiquitin-protein ligase TRIM41 630 71.7 5 2.3.2.27 Cytoplasm; Nucleus 0 0 1 1 5 2004-05-24 Q8WVN8 UB2Q2_HUMAN UBE2Q2 Ubiquitin-conjugating enzyme E2 Q2 375 42.8 15 2.3.2.23 Cytoplasm 0 0 1 1 5 2006-02-21 Q8WWL2 SPIR2_HUMAN SPIRE2 Protein spire homolog 2 714 79.7 16 Cytoplasm; Cell membrane; Cytoplasmic vesicle membrane 0 0 1 1 5 2008-02-26 Q8WXB1 MT21A_HUMAN METTL21A Protein N-lysine methyltransferase METTL21A 218 24.6 2 2.1.1.- Cytoplasm 0 0 1 1 5 2007-06-26 Q8WXH4 ASB11_HUMAN ASB11 Ankyrin repeat and SOCS box protein 11 323 35.4 X Endoplasmic reticulum 0 0 1 1 5 2002-05-10 Q8WYA1 BMAL2_HUMAN BMAL2 Basic helix-loop-helix ARNT-like protein 2 636 70.9 12 Nucleus 0 0 1 1 5 2007-01-23 Q8WZ73 RFFL_HUMAN RFFL E3 ubiquitin-protein ligase rififylin 363 40.5 17 2.3.2.27 Cytoplasm; Cell membrane; Recycling endosome membrane 0 0 1 1 5 2005-09-27 Q92481 AP2B_HUMAN TFAP2B Transcription factor AP-2-beta 460 50.5 6 Nucleus 0 2 Char syndrome; Patent ductus arteriosus 2 1 1 5 2001-01-24 Q92519 TRIB2_HUMAN TRIB2 Tribbles homolog 2 343 38.8 2 Cytoplasm 0 0 1 1 5 2005-12-06 Q92540 SMG7_HUMAN SMG7 Nonsense-mediated mRNA decay factor SMG7 1137 127.3 1 Cytoplasm; Nucleus 0 0 1 1 5 1997-11-01 Q92564 DCNL4_HUMAN DCUN1D4 DCN1-like protein 4 292 34.1 4 Nucleus 0 0 1 1 5 2005-10-25 Q92570 NR4A3_HUMAN NR4A3 Nuclear receptor subfamily 4 group A member 3 626 68.2 9 Nucleus 0 1 Ewing sarcoma 1 1 5 1997-11-01 Q92597 NDRG1_HUMAN NDRG1 Protein NDRG1 394 42.8 8 Cytoplasm; Nucleus; Cell membrane 0 1 Charcot-Marie-Tooth disease, demyelinating, type 4D 1 1 5 1999-07-15 Q92747 ARC1A_HUMAN ARPC1A Actin-related protein 2/3 complex subunit 1A 370 41.6 7 Cytoplasm; Nucleus 0 0 1 1 5 1998-07-15 Q92806 KCNJ9_HUMAN KCNJ9 G protein-activated inward rectifier potassium channel 3 393 44 1 Membrane 2 0 1 1 5 1997-11-01 Q92902 HPS1_HUMAN HPS1 BLOC-3 complex member HPS1 700 79.3 10 0 1 Hermansky-Pudlak syndrome 1 1 1 5 1998-12-15 Q93079 H2B1H_HUMAN H2BC9 Histone H2B type 1-H 126 13.9 6 Nucleus; Chromosome 0 0 1 1 5 2000-05-30 Q969G2 LHX4_HUMAN LHX4 LIM/homeobox protein Lhx4 390 43.1 1 Nucleus 0 1 Pituitary hormone deficiency, combined, 4 1 1 5 2002-01-23 Q969V1 MCHR2_HUMAN MCHR2 Melanin-concentrating hormone receptor 2 340 38.8 6 Cell membrane 7 0 1 1 5 2003-08-15 Q96BR1 SGK3_HUMAN SGK3 Serine/threonine-protein kinase Sgk3 496 57.1 8 2.7.11.1 Cytoplasmic vesicle; Early endosome; Recycling endosome 0 0 1 1 5 2003-02-22 Q96CD2 COAC_HUMAN PPCDC Phosphopantothenoylcysteine decarboxylase 204 22.4 15 4.1.1.36 0 0 1 1 5 2005-06-07 Q96CM3 RUSD4_HUMAN RPUSD4 Pseudouridylate synthase RPUSD4, mitochondrial 377 42.2 11 5.4.99.- Mitochondrion matrix; Nucleus; Cytoplasm 0 0 1 1 5 2007-09-11 Q96E17 RAB3C_HUMAN RAB3C Ras-related protein Rab-3C 227 26 5 3.6.5.2 Cell membrane 0 0 1 1 5 2002-09-19 Q96E29 MTEF3_HUMAN MTERF3 Transcription termination factor 3, mitochondrial 417 48 8 Mitochondrion 0 0 1 1 5 2006-10-31 Q96EA4 SPDLY_HUMAN SPDL1 Protein Spindly 605 70.2 5 Cytoplasm; Chromosome; Nucleus 0 0 1 1 5 2007-02-06 Q96G04 EF2KT_HUMAN EEF2KMT Protein-lysine N-methyltransferase EEF2KMT 330 36.9 16 2.1.1.- Cytoplasm 0 0 1 1 5 2006-01-24 Q96GA7 SDSL_HUMAN SDSL Serine dehydratase-like 329 34.7 12 0 0 1 1 5 2006-12-12 Q96GD3 SCMH1_HUMAN SCMH1 Polycomb protein SCMH1 660 73.4 1 Nucleus 0 0 1 1 5 2005-03-01 Q96IZ0 PAWR_HUMAN PAWR PRKC apoptosis WT1 regulator protein 340 36.6 12 Cytoplasm; Nucleus 0 0 1 1 5 2005-05-24 Q96J87 CELF6_HUMAN CELF6 CUGBP Elav-like family member 6 481 50.5 15 Nucleus; Cytoplasm 0 0 1 1 5 2007-07-10 Q96JM2 ZN462_HUMAN ZNF462 Zinc finger protein 462 2506 284.7 9 Nucleus 0 1 Weiss-Kruszka syndrome 1 1 5 2004-02-02 Q96JP2 MY15B_HUMAN MYO15B Unconventional myosin-XVB 3096 338.2 17 Cytoplasm 0 0 1 1 5 2007-06-26 Q96KN2 CNDP1_HUMAN CNDP1 Beta-Ala-His dipeptidase 507 56.7 18 3.4.13.20 Secreted 0 0 1 1 5 2002-09-19 Q96M63 ODAD1_HUMAN ODAD1 Outer dynein arm-docking complex subunit 1 670 75 19 Cytoplasm 0 1 Ciliary dyskinesia, primary, 20 1 1 5 2007-05-29 Q96N66 MBOA7_HUMAN MBOAT7 Membrane-bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 472 52.8 19 2.3.1.- Endoplasmic reticulum membrane 6 1 Intellectual developmental disorder, autosomal recessive 57 1 1 5 2008-02-05 Q96NA2 RILP_HUMAN RILP Rab-interacting lysosomal protein 401 44.2 17 Late endosome membrane; Lysosome membrane; Cytoplasmic vesicle 0 0 1 1 5 2005-11-08 Q96PQ0 SORC2_HUMAN SORCS2 VPS10 domain-containing receptor SorCS2 1159 128.2 4 Cell membrane; Cell projection; Cytoplasmic vesicle membrane; Early endosome membrane; Recycling endosome membrane; Synapse; Perikaryon; Postsynaptic density membrane 1 0 1 1 5 2002-12-13 Q96PS8 AQP10_HUMAN AQP10 Aquaporin-10 301 31.8 1 Apical cell membrane; Cell membrane; Lipid droplet 6 0 1 1 5 2002-02-21 Q96T37 RBM15_HUMAN RBM15 RNA-binding protein 15 977 107.2 1 Nucleus speckle; Nucleus; Nucleus envelope; Nucleus membrane 0 0 1 1 5 2002-03-27 Q99417 MYCBP_HUMAN MYCBP c-Myc-binding protein 103 12 1 Cytoplasm; Nucleus; Mitochondrion 0 0 1 1 5 2002-02-11 Q99435 NELL2_HUMAN NELL2 Protein kinase C-binding protein NELL2 816 91.3 12 Secreted 0 0 1 1 5 1997-11-01 Q99439 CNN2_HUMAN CNN2 Calponin-2 309 33.7 19 0 0 1 1 5 1997-11-01 Q99442 SEC62_HUMAN SEC62 Translocation protein SEC62 399 45.9 3 Endoplasmic reticulum membrane 2 0 1 1 5 2006-01-24 Q99700 ATX2_HUMAN ATXN2 Ataxin-2 1313 140.3 12 Cytoplasm 0 2 Spinocerebellar ataxia 2; Amyotrophic lateral sclerosis 13 1 1 5 2004-09-13 Q99801 NKX31_HUMAN NKX3-1 Homeobox protein Nkx-3.1 234 26.4 8 Nucleus 0 0 1 1 5 1998-07-15 Q99877 H2B1N_HUMAN H2BC15 Histone H2B type 1-N 126 13.9 6 Nucleus; Chromosome 0 0 1 1 5 2000-05-30 Q9BPX3 CND3_HUMAN NCAPG Condensin complex subunit 3 1015 114.3 4 Nucleus; Cytoplasm; Chromosome 0 0 1 1 5 2003-04-23 Q9BRA0 NAA38_HUMAN NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit 125 13.5 17 Cytoplasm; Nucleus 0 0 1 1 5 2007-08-21 Q9BRK3 MXRA8_HUMAN MXRA8 Matrix remodeling-associated protein 8 442 49.1 1 Cell membrane; Cell junction; Cytoplasm; Cell projection; Nucleus 1 0 1 1 5 2007-08-21 Q9BRZ2 TRI56_HUMAN TRIM56 E3 ubiquitin-protein ligase TRIM56 755 81.5 7 2.3.2.27 Cytoplasm 0 0 1 1 5 2004-12-21 Q9BS40 LXN_HUMAN LXN Latexin 222 25.8 3 Cytoplasm 0 0 1 1 5 2004-07-05 Q9BSD7 NTPCR_HUMAN NTPCR Cancer-related nucleoside-triphosphatase 190 20.7 1 3.6.1.15 0 0 1 1 5 2004-10-11 Q9BTE3 MCMBP_HUMAN MCMBP Mini-chromosome maintenance complex-binding protein 642 73 10 Nucleus 0 0 1 1 5 2005-07-19 Q9BTL3 RAMAC_HUMAN RAMAC RNA guanine-N7 methyltransferase activating subunit 118 14.4 15 Nucleus 0 0 1 1 5 2005-08-30 Q9BTZ2 DHRS4_HUMAN DHRS4 Dehydrogenase/reductase SDR family member 4 278 29.5 14 1.1.1.184 Peroxisome 0 0 1 1 5 2003-10-10 Q9BUP3 HTAI2_HUMAN HTATIP2 Protein HTATIP2 242 27 11 Cytoplasm 0 0 1 1 5 2005-10-25 Q9BW19 KIFC1_HUMAN KIFC1 Kinesin-like protein KIFC1 673 73.7 6 Nucleus; Cytoplasm; Early endosome 0 0 1 1 5 2002-01-23 Q9BWF3 RBM4_HUMAN RBM4 RNA-binding protein 4 364 40.3 11 Nucleus; Nucleus speckle; Cytoplasm; Cytoplasmic granule 0 0 1 1 5 2005-04-12 Q9BXD5 NPL_HUMAN NPL N-acetylneuraminate lyase 320 35.2 1 4.1.3.3 Cytoplasm 0 0 1 1 5 2007-01-23 Q9BYE7 PCGF6_HUMAN PCGF6 Polycomb group RING finger protein 6 350 39 10 Nucleus 0 0 1 1 5 2005-10-11 Q9BYH8 IKBZ_HUMAN NFKBIZ NF-kappa-B inhibitor zeta 718 78.1 3 Nucleus 0 0 1 1 5 2008-03-18 Q9BYJ1 LOXE3_HUMAN ALOXE3 Hydroperoxide isomerase ALOXE3 711 80.5 17 Cytoplasm 0 1 Ichthyosis, congenital, autosomal recessive 3 1 1 5 2003-01-27 Q9BZ71 PITM3_HUMAN PITPNM3 Membrane-associated phosphatidylinositol transfer protein 3 974 106.8 17 Endomembrane system 0 1 Cone-rod dystrophy 5 1 1 5 2006-04-18 Q9BZM4 ULBP3_HUMAN ULBP3 UL16-binding protein 3 244 27.9 6 Cell membrane 0 0 1 1 5 2004-05-24 Q9C004 SPY4_HUMAN SPRY4 Protein sprouty homolog 4 299 32.5 5 Cytoplasm; Cell projection 0 1 Hypogonadotropic hypogonadism 17 with or without anosmia 1 1 5 2001-07-11 Q9C0C4 SEM4C_HUMAN SEMA4C Semaphorin-4C 833 92.6 2 Postsynaptic density membrane; Cytoplasmic vesicle 1 0 1 1 5 2004-05-24 Q9C0F1 CEP44_HUMAN CEP44 Centrosomal protein of 44 kDa 390 44.1 4 Cytoplasm; Midbody 0 0 1 1 5 2007-07-10 Q9GZT3 SLIRP_HUMAN SLIRP SRA stem-loop-interacting RNA-binding protein, mitochondrial 109 12.3 14 Mitochondrion; Nucleus 0 0 1 1 5 2006-07-25 Q9GZY6 NTAL_HUMAN LAT2 Linker for activation of T-cells family member 2 243 26.6 7 Cell membrane 1 0 1 1 5 2005-12-20 Q9H0I3 CF263_HUMAN CFAP263 Cilia- and flagella-associated protein 263 377 44.2 16 Cytoplasm; Cell projection 0 0 1 1 5 2007-03-06 Q9H0N5 PHS2_HUMAN PCBD2 Pterin-4-alpha-carbinolamine dehydratase 2 130 14.4 5 4.2.1.96 Nucleus; Cytoplasm 0 0 1 1 5 2001-08-29 Q9H0S4 DDX47_HUMAN DDX47 Probable ATP-dependent RNA helicase DDX47 455 50.6 12 3.6.4.13 Nucleus 0 0 1 1 5 2004-09-27 Q9H0U3 MAGT1_HUMAN MAGT1 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit MAGT1 335 38 X Cell membrane; Endoplasmic reticulum; Endoplasmic reticulum membrane 4 2 Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia; Congenital disorder of glycosylation 1CC 1 1 5 2006-07-11 Q9H0W9 BKGD_HUMAN BKGD Beta-keto L-gulonate decarboxylase 315 35.1 11 4.1.1.34 Nucleus; Cytoplasm 0 0 1 1 5 2006-07-11 Q9H299 SH3L3_HUMAN SH3BGRL3 SH3 domain-binding glutamic acid-rich-like protein 3 93 10.4 1 Cytoplasm; Cell projection; Nucleus 0 0 1 1 5 2002-11-01 Q9H5U6 ZCHC4_HUMAN ZCCHC4 rRNA N(6)-adenosine-methyltransferase ZCCHC4 513 59 4 2.1.1.- Nucleus; Cytoplasm 0 0 1 1 5 2004-08-31 Q9H6K1 ILRUN_HUMAN ILRUN Protein ILRUN 298 32.9 6 Cytoplasm; Nucleus 0 0 1 1 5 2005-07-19 Q9H7Z3 NRDE2_HUMAN NRDE2 Nuclear exosome regulator NRDE2 1164 132.7 14 Nucleus speckle; Nucleus 0 0 1 1 5 2003-08-15 Q9H832 UBE2Z_HUMAN UBE2Z Ubiquitin-conjugating enzyme E2 Z 354 38.2 17 2.3.2.23 Cytoplasm; Nucleus 0 0 1 1 5 2007-03-20 Q9H8T0 AKTIP_HUMAN AKTIP AKT-interacting protein 292 33.1 16 Cytoplasm; Cell membrane 0 0 1 1 5 2004-10-11 Q9H9L4 KANL2_HUMAN KANSL2 KAT8 regulatory NSL complex subunit 2 492 55 12 Nucleus; Mitochondrion 0 0 1 1 5 2007-02-20 Q9HBK9 AS3MT_HUMAN AS3MT Arsenite methyltransferase 375 41.7 10 2.1.1.137 Cytoplasm 0 0 1 1 5 2005-01-04 Q9HBW9 AGRL4_HUMAN ADGRL4 Adhesion G protein-coupled receptor L4 690 77.8 1 Cell membrane 7 0 1 1 5 2004-02-16 Q9HCJ2 LRC4C_HUMAN LRRC4C Leucine-rich repeat-containing protein 4C 640 72 11 Postsynaptic cell membrane 1 0 1 1 5 2005-01-04 Q9HD36 B2L10_HUMAN BCL2L10 Bcl-2-like protein 10 204 23.2 15 Mitochondrion; Nucleus membrane; Endoplasmic reticulum; Cytoplasm 1 0 1 1 5 2002-09-19 Q9HD47 MOG1_HUMAN RANGRF Ran guanine nucleotide release factor 186 20.4 17 Nucleus; Cytoplasm; Cell membrane 0 0 1 1 5 2008-04-29 Q9NP72 RAB18_HUMAN RAB18 Ras-related protein Rab-18 206 23 10 3.6.5.2 Endoplasmic reticulum membrane; Golgi apparatus; Lipid droplet; Apical cell membrane 0 1 Warburg micro syndrome 3 1 1 5 2001-01-11 Q9NPC3 CIP1_HUMAN CCNB1IP1 E3 ubiquitin-protein ligase CCNB1IP1 277 31.5 14 2.3.2.27 Nucleus; Chromosome 0 0 1 1 5 2003-09-26 Q9NQ75 CASS4_HUMAN CASS4 Cas scaffolding protein family member 4 786 87.1 20 Cytoplasm; Cell junction 0 0 1 1 5 2002-10-10 Q9NQZ6 ZC4H2_HUMAN ZC4H2 Zinc finger C4H2 domain-containing protein 224 26.2 X Cytoplasm; Nucleus; Postsynaptic cell membrane 0 2 Wieacker-Wolf syndrome; Wieacker-Wolff syndrome, female-restricted 1 1 5 2003-10-10 Q9NRH2 SNRK_HUMAN SNRK SNF-related serine/threonine-protein kinase 765 84.3 3 2.7.11.1 Nucleus 0 0 1 1 5 2006-03-07 Q9NSI8 SAMN1_HUMAN SAMSN1 SAM domain-containing protein SAMSN-1 373 41.7 21 Nucleus; Cytoplasm; Cell projection 0 0 1 1 5 2001-01-11 Q9NTK5 OLA1_HUMAN OLA1 Obg-like ATPase 1 396 44.7 2 Cytoplasm; Nucleus 0 0 1 1 5 2002-11-25 Q9NUL5 SHFL_HUMAN SHFL Shiftless antiviral inhibitor of ribosomal frameshifting protein 291 33.1 19 Cytoplasm; Nucleus 0 0 1 1 5 2008-02-26 Q9NUP9 LIN7C_HUMAN LIN7C Protein lin-7 homolog C 197 21.8 11 Cell membrane; Basolateral cell membrane; Cell junction; Postsynaptic density membrane 0 0 1 1 5 2005-02-15 Q9NUU6 OTULL_HUMAN OTULINL Inactive ubiquitin thioesterase OTULINL 356 42.2 5 Cytoplasm; Endoplasmic reticulum membrane; Nucleus envelope 0 0 1 1 5 2007-02-06 Q9NWZ8 GEMI8_HUMAN GEMIN8 Gem-associated protein 8 242 28.6 X Nucleus; Cytoplasm 0 0 1 1 5 2004-09-27 Q9NXC2 GFOD1_HUMAN GFOD1 Glucose-fructose oxidoreductase domain-containing protein 1 390 43.2 6 Secreted 0 0 1 1 5 2007-04-03 Q9NXW2 DJB12_HUMAN DNAJB12 DnaJ homolog subfamily B member 12 375 41.9 10 Endoplasmic reticulum membrane; Nucleus membrane 1 0 1 1 5 2001-10-18 Q9NY59 NSMA2_HUMAN SMPD3 Sphingomyelin phosphodiesterase 3 655 71.1 16 3.1.4.12 Golgi apparatus membrane; Cell membrane 0 0 1 1 5 2005-08-30 Q9NY99 SNTG2_HUMAN SNTG2 Gamma-2-syntrophin 539 60.2 2 Cell membrane; Cytoplasm 0 0 1 1 5 2002-10-10 Q9NZ94 NLGN3_HUMAN NLGN3 Neuroligin-3 848 93.9 X Cell membrane; Synapse; Cell projection 1 1 Autism, X-linked 1 1 1 5 2003-05-23 Q9NZG7 NINJ2_HUMAN NINJ2 Ninjurin-2 142 15.7 12 Cell membrane 2 0 1 1 5 2001-09-26 Q9NZS2 KLRF1_HUMAN KLRF1 Killer cell lectin-like receptor subfamily F member 1 231 26.6 12 Membrane 1 0 1 1 5 2004-05-24 Q9NZV6 MSRB1_HUMAN MSRB1 Methionine-R-sulfoxide reductase B1 116 12.8 16 1.8.4.12, 1.8.4.14 Cytoplasm; Nucleus 0 0 1 1 5 2001-01-11 Q9P021 CRIPT_HUMAN CRIPT Cysteine-rich PDZ-binding protein 101 11.2 2 Cytoplasm; Synapse; Cell projection 0 1 Rothmund-Thomson syndrome 3 1 1 5 2008-01-15 Q9P232 CNTN3_HUMAN CNTN3 Contactin-3 1028 112.9 3 Cell membrane 0 0 1 1 5 2004-11-23 Q9P246 STIM2_HUMAN STIM2 Stromal interaction molecule 2 746 84 4 Endoplasmic reticulum membrane 1 0 1 1 5 2001-11-02 Q9UBS3 DNJB9_HUMAN DNAJB9 DnaJ homolog subfamily B member 9 223 25.5 7 Endoplasmic reticulum lumen 0 0 1 1 5 2001-10-18 Q9UDY6 TRI10_HUMAN TRIM10 E3 ubiquitin-protein ligase TRIM10 481 55 6 2.3.2.27 Cytoplasm 0 0 1 1 5 2001-09-26 Q9UHD1 CHRD1_HUMAN CHORDC1 Cysteine and histidine-rich domain-containing protein 1 332 37.5 11 0 0 1 1 5 2008-02-05 Q9UI17 M2GD_HUMAN DMGDH Dimethylglycine dehydrogenase, mitochondrial 866 96.8 5 1.5.8.4 Mitochondrion 0 1 DMGDH deficiency 1 1 5 2000-12-01 Q9UI46 DNAI1_HUMAN DNAI1 Dynein axonemal intermediate chain 1 699 79.3 9 Dynein axonemal particle; Cytoplasm; Cell projection 0 2 Ciliary dyskinesia, primary, 1; Kartagener syndrome 1 1 5 2001-01-11 Q9UIH9 KLF15_HUMAN KLF15 Krueppel-like factor 15 416 44 3 Nucleus 0 0 1 1 5 2002-01-23 Q9UJ78 ZMYM5_HUMAN ZMYM5 Zinc finger MYM-type protein 5 669 74.8 13 Nucleus 0 0 1 1 5 2004-08-31 Q9UJY1 HSPB8_HUMAN HSPB8 Heat shock protein beta-8 196 21.6 12 Cytoplasm; Nucleus 0 3 Neuronopathy, distal hereditary motor, autosomal dominant 2; Charcot-Marie-Tooth disease, axonal, type 2L; Myopathy, myofibrillar, 13, with rimmed vacuoles 1 1 5 2001-04-27 Q9UK53 ING1_HUMAN ING1 Inhibitor of growth protein 1 422 46.7 13 Nucleus 0 1 Squamous cell carcinoma of the head and neck 1 1 5 2004-01-16 Q9UKB1 FBW1B_HUMAN FBXW11 F-box/WD repeat-containing protein 11 542 62.1 5 Cytoplasm; Nucleus 0 1 Neurodevelopmental, jaw, eye, and digital syndrome 1 1 5 2001-02-21 Q9UKW4 VAV3_HUMAN VAV3 Guanine nucleotide exchange factor VAV3 847 97.8 1 0 0 1 1 5 2001-01-24 Q9UL42 PNMA2_HUMAN PNMA2 Paraneoplastic antigen Ma2 364 41.5 8 Nucleus 0 0 1 1 5 2003-10-24 Q9ULA0 DNPEP_HUMAN DNPEP Aspartyl aminopeptidase 485 53.4 2 3.4.11.21 Cytoplasm 0 0 1 1 5 2001-10-24 Q9ULB1 NRX1A_HUMAN NRXN1 Neurexin-1 1477 161.9 2 Presynaptic cell membrane 1 2 Pitt-Hopkins-like syndrome 2; Schizophrenia 17 1 1 5 2001-11-16 Q9ULD4 BRPF3_HUMAN BRPF3 Bromodomain and PHD finger-containing protein 3 1205 135.7 6 Nucleus 0 0 1 1 5 2001-01-11 Q9ULG6 CCPG1_HUMAN CCPG1 Cell cycle progression protein 1 757 87.3 15 Cytoplasmic granule membrane 1 0 1 1 5 2007-11-13 Q9ULJ3 ZBT21_HUMAN ZBTB21 Zinc finger and BTB domain-containing protein 21 1066 118.9 21 Nucleus 0 0 1 1 5 2000-12-01 Q9ULM6 CNOT6_HUMAN CNOT6 CCR4-NOT transcription complex subunit 6 557 63.3 5 3.1.13.4 Cytoplasm; Nucleus 0 0 1 1 5 2004-04-13 Q9ULU8 CAPS1_HUMAN CADPS Calcium-dependent secretion activator 1 1353 152.8 3 Synapse; Cytoplasmic vesicle 0 0 1 1 5 2006-01-10 Q9UM00 TMCO1_HUMAN TMCO1 Calcium load-activated calcium channel 239 27.1 1 Endoplasmic reticulum membrane; Golgi apparatus membrane; Mitochondrion membrane 3 2 Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1; Glaucoma, primary open angle 1 1 5 2006-06-27 Q9UMR5 PPT2_HUMAN PPT2 Lysosomal thioesterase PPT2 302 34.2 6 3.1.2.2 Lysosome 0 0 1 1 5 2002-03-05 Q9UNE0 EDAR_HUMAN EDAR Tumor necrosis factor receptor superfamily member EDAR 448 48.6 2 Membrane 1 2 Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 1 1 5 2002-05-27 Q9UPZ6 THS7A_HUMAN THSD7A Thrombospondin type-1 domain-containing protein 7A 1657 185.4 7 Cell membrane; Cell projection 1 0 1 1 5 2006-10-31 Q9UQV4 LAMP3_HUMAN LAMP3 Lysosome-associated membrane glycoprotein 3 416 44.3 3 Cell surface; Lysosome membrane; Cytoplasmic vesicle membrane; Early endosome membrane 1 0 1 1 5 2006-02-21 Q9Y217 MTMR6_HUMAN MTMR6 Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR6 621 72 13 3.1.3.95 Cytoplasm; Endoplasmic reticulum-Golgi intermediate compartment; Endoplasmic reticulum; Cell projection 0 0 1 1 5 2000-12-01 Q9Y250 LZTS1_HUMAN LZTS1 Leucine zipper putative tumor suppressor 1 596 66.6 8 Cytoplasm; Cell membrane; Cell projection; Postsynaptic density; Synapse 0 1 Esophageal cancer 1 1 5 2004-04-13 Q9Y2K5 R3HD2_HUMAN R3HDM2 R3H domain-containing protein 2 976 107 12 Nucleus 0 0 1 1 5 2002-10-19 Q9Y2N7 HIF3A_HUMAN HIF3A Hypoxia-inducible factor 3-alpha 669 72.4 19 Nucleus; Cytoplasm; Nucleus speckle; Mitochondrion 0 0 1 1 5 2007-04-17 Q9Y2Y4 ZBT32_HUMAN ZBTB32 Zinc finger and BTB domain-containing protein 32 487 53 19 Nucleus 0 0 1 1 5 2007-01-23 Q9Y2Z0 SGT1_HUMAN SUGT1 Protein SGT1 homolog 365 41 13 Cytoplasm; Nucleus 0 0 1 1 5 2003-10-03 Q9Y483 MTF2_HUMAN MTF2 Metal-response element-binding transcription factor 2 593 67.1 1 Nucleus 0 0 1 1 5 2000-12-01 Q9Y4C8 RBM19_HUMAN RBM19 Probable RNA-binding protein 19 960 107.3 12 Nucleus; Cytoplasm; Chromosome 0 0 1 1 5 2001-02-21 Q9Y4D7 PLXD1_HUMAN PLXND1 Plexin-D1 1925 212 3 Cell membrane; Cell projection 1 1 Congenital heart defects, multiple types, 9 1 1 5 2004-08-31 Q9Y5J6 T10B_HUMAN TIMM10B Mitochondrial import inner membrane translocase subunit Tim10 B 103 11.6 11 Mitochondrion inner membrane 0 0 1 1 5 2001-01-11 Q9Y5R6 DMRT1_HUMAN DMRT1 Doublesex- and mab-3-related transcription factor 1 373 39.5 9 Nucleus 0 2 Testicular germ cell tumor; 46,XY sex reversal 4 1 1 5 2000-12-01 Q9Y639 NPTN_HUMAN NPTN Neuroplastin 398 44.4 15 Cell membrane 1 0 1 1 5 2006-01-10 Q9Y691 KCMB2_HUMAN KCNMB2 Calcium-activated potassium channel subunit beta-2 235 27.1 3 Membrane 2 0 1 1 5 2004-04-13 Q9Y6B7 AP4B1_HUMAN AP4B1 AP-4 complex subunit beta-1 739 83.3 1 Golgi apparatus 0 1 Spastic paraplegia 47, autosomal recessive 1 1 5 2001-04-27 Q9Y6K5 OAS3_HUMAN OAS3 2'-5'-oligoadenylate synthase 3 1087 121.2 12 2.7.7.84 Cytoplasm; Nucleus 0 0 1 1 5 2001-02-21 Q9Y6K8 KAD5_HUMAN AK5 Adenylate kinase isoenzyme 5 562 63.3 1 2.7.4.3, 2.7.4.6 Cytoplasm 0 0 1 1 5 2000-12-01 Q9Y6R0 NUMBL_HUMAN NUMBL Numb-like protein 609 64.9 19 Cytoplasm 0 0 1 1 5 2001-06-01 Q9Y6R9 CCD61_HUMAN CCDC61 Centrosomal protein CCDC61 512 57.4 19 Cytoplasm 0 0 1 1 5 2007-11-13 A0AV96 RBM47_HUMAN RBM47 RNA-binding protein 47 593 64.1 4 Nucleus; Cytoplasm 0 0 1 1 5 2007-10-23 A0PK00 T120B_HUMAN TMEM120B Transmembrane protein 120B 339 40.2 12 Nucleus inner membrane 6 0 1 1 5 2007-11-13 A4UGR9 XIRP2_HUMAN XIRP2 Xin actin-binding repeat-containing protein 2 3374 382.3 2 Cell junction 0 0 1 1 5 2008-02-05 A6NHR9 SMHD1_HUMAN SMCHD1 Structural maintenance of chromosomes flexible hinge domain-containing protein 1 2005 226.4 18 3.6.1.- Chromosome 0 2 Facioscapulohumeral muscular dystrophy 2, digenic; Bosma arhinia microphthalmia syndrome 1 1 5 2008-04-29 A7KAX9 RHG32_HUMAN ARHGAP32 Rho GTPase-activating protein 32 2087 230.5 11 Postsynaptic density; Cell projection; Cytoplasm; Endosome membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane; Membrane 0 0 1 1 5 2008-07-22 A9YTQ3 AHRR_HUMAN AHRR Aryl hydrocarbon receptor repressor 697 75.8 5 Cytoplasm; Nucleus 0 0 1 1 5 2008-05-20 B2RXH2 KDM4E_HUMAN KDM4E Lysine-specific demethylase 4E 506 56.8 11 1.14.11.-, 1.14.11.66 Nucleus 0 0 1 1 5 2010-07-13 K9M1U5 IFNL4_HUMAN IFNL4 Interferon lambda-4 179 19.7 Cytoplasm; Secreted 0 0 1 1 5 2013-05-01 O00238 BMR1B_HUMAN BMPR1B Bone morphogenetic protein receptor type-1B 502 56.9 4 2.7.11.30 Cell membrane 1 3 Acromesomelic dysplasia 3; Brachydactyly A2; Brachydactyly A1, D 1 1 5 2000-05-30 O00463 TRAF5_HUMAN TRAF5 TNF receptor-associated factor 5 557 64.4 1 Cytoplasm 0 0 1 1 5 2003-05-09 O00631 SARCO_HUMAN SLN Sarcolipin 31 3.8 11 Sarcoplasmic reticulum membrane; Endoplasmic reticulum membrane 1 0 1 1 5 1997-11-01 O00767 SCD_HUMAN SCD Stearoyl-CoA desaturase 359 41.5 10 1.14.19.1 Endoplasmic reticulum membrane 4 0 1 1 5 1998-07-15 O14531 DPYL4_HUMAN DPYSL4 Dihydropyrimidinase-related protein 4 572 61.9 10 Cytoplasm 0 0 1 1 5 1998-07-15 O14678 ABCD4_HUMAN ABCD4 Lysosomal cobalamin transporter ABCD4 606 68.6 14 7.6.2.8 Endoplasmic reticulum membrane; Lysosome membrane 5 1 Methylmalonic aciduria and homocystinuria type cblJ 1 1 5 2000-05-30 O15197 EPHB6_HUMAN EPHB6 Ephrin type-B receptor 6 1021 110.7 Cell membrane 1 0 1 1 5 2000-05-30 O15379 HDAC3_HUMAN HDAC3 Histone deacetylase 3 428 48.8 5 3.5.1.98 Nucleus; Chromosome; Cytoplasm 0 0 1 1 5 1998-07-15 O43291 SPIT2_HUMAN SPINT2 Kunitz-type protease inhibitor 2 252 28.2 19 Cell membrane; Cytoplasm 1 1 Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 1 1 5 2001-02-21 O43405 COCH_HUMAN COCH Cochlin 550 59.5 14 Secreted 0 2 Deafness, autosomal dominant, 9; Deafness, autosomal recessive, 110 1 1 5 2000-05-30 O43432 IF4G3_HUMAN EIF4G3 Eukaryotic translation initiation factor 4 gamma 3 1585 176.7 1 0 0 1 1 5 2004-06-07 O43747 AP1G1_HUMAN AP1G1 AP-1 complex subunit gamma-1 822 91.4 16 Golgi apparatus; Cytoplasmic vesicle; Cytoplasm; Membrane 0 2 Usmani-Riazuddin syndrome, autosomal dominant; Usmani-Riazuddin syndrome, autosomal recessive 1 1 5 1998-12-15 O43781 DYRK3_HUMAN DYRK3 Dual specificity tyrosine-phosphorylation-regulated kinase 3 588 65.7 1 2.7.12.1 Nucleus; Cytoplasm; Nucleus speckle; Cytoplasmic granule 0 0 1 1 5 2001-04-27 O43822 CF410_HUMAN CFAP410 Cilia- and flagella-associated protein 410 256 28.3 21 Mitochondrion; Cytoplasm; Cell projection 0 2 Retinal dystrophy with or without macular staphyloma; Spondylometaphyseal dysplasia, axial 1 1 5 1998-07-15 O43915 VEGFD_HUMAN VEGFD Vascular endothelial growth factor D 354 40.4 X Secreted 0 0 1 1 5 2001-11-16 O60232 ZNRD2_HUMAN ZNRD2 Protein ZNRD2 199 21.5 11 Cytoplasm 0 0 1 1 5 1999-07-15 O60437 PEPL_HUMAN PPL Periplakin 1756 204.7 16 Cell junction; Cytoplasm; Cell membrane; Lateral cell membrane 0 0 1 1 5 2001-06-01 O60500 NPHN_HUMAN NPHS1 Nephrin 1241 134.7 19 Cell membrane 1 1 Nephrotic syndrome 1 1 1 5 2002-04-16 O60610 DIAP1_HUMAN DIAPH1 Protein diaphanous homolog 1 1272 141.3 5 Cell membrane; Cell projection; Cytoplasm; Nucleus 0 2 Deafness, autosomal dominant 1, with or without thrombocytopenia; Seizures, cortical blindness, and microcephaly syndrome 1 1 5 2000-05-30 O60906 NSMA_HUMAN SMPD2 Sphingomyelin phosphodiesterase 2 423 47.6 6 3.1.4.12 Cell membrane 2 0 1 1 5 2002-02-11 O75446 SAP30_HUMAN SAP30 Histone deacetylase complex subunit SAP30 220 23.3 4 Nucleus 0 0 1 1 5 2005-06-21 O75462 CRLF1_HUMAN CRLF1 Cytokine receptor-like factor 1 422 46.3 19 Secreted 0 1 Crisponi/Cold-induced sweating syndrome 1 1 1 5 2004-03-01 O75506 HSBP1_HUMAN HSBP1 Heat shock factor-binding protein 1 76 8.5 16 Nucleus 0 0 1 1 5 2000-05-30 O75663 TIPRL_HUMAN TIPRL TIP41-like protein 272 31.4 1 Cytoplasm 0 0 1 1 5 2007-09-11 O75688 PPM1B_HUMAN PPM1B Protein phosphatase 1B 479 52.6 2 3.1.3.16 Cytoplasm; Membrane 0 0 1 1 5 2000-12-01 O75791 GRAP2_HUMAN GRAP2 GRB2-related adapter protein 2 330 37.9 22 Nucleus; Cytoplasm; Endosome 0 0 1 1 5 2000-05-30 O95050 INMT_HUMAN INMT Indolethylamine N-methyltransferase 263 28.9 7 2.1.1.49, 2.1.1.96 Cytoplasm 0 0 1 1 5 2000-12-01 O95057 DIRA1_HUMAN DIRAS1 GTP-binding protein Di-Ras1 198 22.3 19 Cell membrane 0 0 1 1 5 2005-03-29 O95147 DUS14_HUMAN DUSP14 Dual specificity protein phosphatase 14 198 22.3 17 3.1.3.16, 3.1.3.48 0 0 1 1 5 2002-01-23 O95396 MOCS3_HUMAN MOCS3 Adenylyltransferase and sulfurtransferase MOCS3 460 49.7 20 Cytoplasm 0 1 Molybdenum cofactor deficiency, type B2 1 1 5 2002-07-26 O95490 AGRL2_HUMAN ADGRL2 Adhesion G protein-coupled receptor L2 1459 163.3 1 Postsynaptic cell membrane 7 0 1 1 5 2004-04-26 O95715 CXL14_HUMAN CXCL14 C-X-C motif chemokine 14 111 13.1 5 Secreted 0 0 1 1 5 2000-05-30 O95834 EMAL2_HUMAN EML2 Echinoderm microtubule-associated protein-like 2 649 70.7 19 Cytoplasm 0 0 1 1 5 2001-10-18 O95861 BPNT1_HUMAN BPNT1 3'(2'),5'-bisphosphate nucleotidase 1 308 33.4 1 3.1.3.7 0 0 1 1 5 2004-04-13 O95995 DRC4_HUMAN DRC4 Dynein regulatory complex subunit 4 478 56.4 16 Cytoplasm; Cell projection; Golgi apparatus 0 1 Ciliary dyskinesia, primary, 33 1 1 5 2003-07-19 O96006 ZBED1_HUMAN ZBED1 E3 SUMO-protein ligase ZBED1 694 78.2 X 2.3.2.- Nucleus 0 0 1 1 5 2004-01-16 O96020 CCNE2_HUMAN CCNE2 G1/S-specific cyclin-E2 404 46.8 8 Nucleus 0 0 1 1 5 1999-07-15 O96033 MOC2A_HUMAN MOCS2 Molybdopterin synthase sulfur carrier subunit 88 9.8 5 Cytoplasm; Nucleus 0 1 Molybdenum cofactor deficiency, type B1 1 1 5 2002-02-11 P00167 CYB5_HUMAN CYB5A Cytochrome b5 134 15.3 18 Endoplasmic reticulum membrane; Microsome membrane 1 1 Methemoglobinemia and ambiguous genitalia 1 1 5 1986-07-21 P00966 ASSY_HUMAN ASS1 Argininosuccinate synthase 412 46.5 9 6.3.4.5 Cytoplasm 0 1 Citrullinemia 1 1 1 5 1986-07-21 P00973 OAS1_HUMAN OAS1 2'-5'-oligoadenylate synthase 1 400 46 12 2.7.7.84 Cytoplasm; Mitochondrion; Nucleus; Microsome; Endoplasmic reticulum; Secreted 0 1 Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia 1 1 5 1986-07-21 P02100 HBE_HUMAN HBE1 Hemoglobin subunit epsilon 147 16.2 11 0 0 1 1 5 1986-07-21 P02144 MYG_HUMAN MB Myoglobin 154 17.2 22 Cytoplasm 0 1 Myopathy, sarcoplasmic body 1 1 5 1986-07-21 P07478 TRY2_HUMAN PRSS2 Trypsin-2 247 26.5 7 3.4.21.4 Secreted 0 0 1 1 5 1988-04-01 P08133 ANXA6_HUMAN ANXA6 Annexin A6 673 75.9 5 Cytoplasm; Melanosome 0 0 1 1 5 1988-08-01 P09972 ALDOC_HUMAN ALDOC Fructose-bisphosphate aldolase C 364 39.5 17 4.1.2.13 0 0 1 1 5 1989-07-01 P0DJD3 RBY1A_HUMAN RBMY1A1 RNA-binding motif protein, Y chromosome, family 1 member A1 496 55.8 Y Nucleus 0 0 1 1 5 2012-02-22 P0DML2 CSH1_HUMAN CSH1 Chorionic somatomammotropin hormone 1 217 25 17 Secreted 0 0 1 1 5 2014-07-09 P0DP57 SLUR2_HUMAN SLURP2 Secreted Ly-6/uPAR domain-containing protein 2 97 10.2 8 Secreted 0 0 1 1 5 2017-07-05 P0DPD7 EFMT4_HUMAN EEF1AKMT4 EEF1A lysine methyltransferase 4 255 28.3 3 2.1.1.- 0 0 1 1 5 2018-02-28 P10244 MYBB_HUMAN MYBL2 Myb-related protein B 700 78.8 20 Nucleus 0 0 1 1 5 1989-07-01 P10746 HEM4_HUMAN UROS Uroporphyrinogen-III synthase 265 28.6 10 4.2.1.75 Cytoplasm 0 1 Congenital erythropoietic porphyria 1 1 5 1989-07-01 P13929 ENOB_HUMAN ENO3 Beta-enolase 434 47 17 4.2.1.11 Cytoplasm 0 1 Glycogen storage disease 13 1 1 5 1990-01-01 P14138 EDN3_HUMAN EDN3 Endothelin-3 238 25.5 20 Secreted 0 2 Hirschsprung disease 4; Waardenburg syndrome 4B 1 1 5 1990-01-01 P14653 HXB1_HUMAN HOXB1 Homeobox protein Hox-B1 301 32.2 17 Nucleus 0 1 Facial paresis, hereditary congenital, 3 1 1 5 1990-04-01 P14923 PLAK_HUMAN JUP Junction plakoglobin 745 81.7 17 Cell junction; Cytoplasm; Cell membrane; Nucleus; Cell projection 0 2 Naxos disease; Arrhythmogenic right ventricular dysplasia, familial, 12 1 1 5 1990-04-01 P15169 CBPN_HUMAN CPN1 Carboxypeptidase N catalytic chain 458 52.3 10 3.4.17.3 Secreted 0 1 Carboxypeptidase N deficiency 1 1 5 1990-04-01 P15812 CD1E_HUMAN CD1E T-cell surface glycoprotein CD1e, membrane-associated 388 43.6 1 Golgi apparatus membrane; Early endosome; Late endosome 1 0 1 1 5 1990-04-01 P18545 CNRG_HUMAN PDE6G Rod cGMP 3',5'-cyclic phosphodiesterase subunit gamma 87 9.6 17 Cell projection 0 1 Retinitis pigmentosa 57 1 1 5 1990-11-01 P19397 CD53_HUMAN CD53 Leukocyte surface antigen CD53 219 24.3 1 Cell membrane; Cell junction; Membrane; Synapse 4 0 1 1 5 1990-11-01 P20930 FILA_HUMAN FLG Filaggrin 4061 435.2 1 Cytoplasmic granule 0 2 Ichthyosis vulgaris; Dermatitis atopic 2 1 1 5 1991-02-01 P23219 PGH1_HUMAN PTGS1 Prostaglandin G/H synthase 1 599 68.7 9 1.14.99.1 Microsome membrane; Endoplasmic reticulum membrane 0 0 1 1 5 1991-11-01 P23510 TNFL4_HUMAN TNFSF4 Tumor necrosis factor ligand superfamily member 4 183 21.1 1 Membrane 1 1 Systemic lupus erythematosus 1 1 5 1991-11-01 P23582 ANFC_HUMAN NPPC C-type natriuretic peptide 126 13.2 2 Secreted 0 0 1 1 5 1991-11-01 P23760 PAX3_HUMAN PAX3 Paired box protein Pax-3 479 53 2 Nucleus 0 4 Waardenburg syndrome 1; Waardenburg syndrome 3; Craniofacial-deafness-hand syndrome; Rhabdomyosarcoma 2 1 1 5 1991-11-01 P24468 COT2_HUMAN NR2F2 COUP transcription factor 2 414 45.6 15 Nucleus 0 2 Congenital heart defects, multiple types, 4; 46,XX sex reversal 5 1 1 5 1992-03-01 P27169 PON1_HUMAN PON1 Serum paraoxonase/arylesterase 1 355 39.7 7 3.1.1.2, 3.1.1.81, 3.1.8.1 Secreted 0 0 1 1 5 1992-08-01 P27701 CD82_HUMAN CD82 CD82 antigen 267 29.6 11 Cell membrane; Cytoplasmic vesicle 4 0 1 1 5 1992-08-01 P28221 5HT1D_HUMAN HTR1D 5-hydroxytryptamine receptor 1D 377 41.9 1 Cell membrane 7 0 1 1 5 1992-12-01 P28908 TNR8_HUMAN TNFRSF8 Tumor necrosis factor receptor superfamily member 8 595 63.7 1 Cell membrane 1 0 1 1 5 1992-12-01 P30279 CCND2_HUMAN CCND2 G1/S-specific cyclin-D2 289 33.1 12 Nucleus; Cytoplasm; Nucleus membrane 0 1 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 1 1 5 1993-04-01 P30414 NKTR_HUMAN NKTR NK-tumor recognition protein 1462 165.7 3 Cell membrane 0 0 1 1 5 1993-04-01 P32926 DSG3_HUMAN DSG3 Desmoglein-3 999 107.5 18 Cell membrane; Cell junction; Cytoplasm 1 1 Blistering, acantholytic, of oral and laryngeal mucosa 1 1 5 1993-10-01 P34903 GBRA3_HUMAN GABRA3 Gamma-aminobutyric acid receptor subunit alpha-3 492 55.2 X Postsynaptic cell membrane; Cell membrane 4 1 Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features 1 1 5 1994-02-01 P34969 5HT7R_HUMAN HTR7 5-hydroxytryptamine receptor 7 479 53.6 10 Cell membrane 7 0 1 1 5 1994-02-01 P35219 CAH8_HUMAN CA8 Carbonic anhydrase-related protein 290 33 8 0 1 Spinocerebellar ataxia, autosomal recessive, 34 1 1 5 1994-02-01 P35580 MYH10_HUMAN MYH10 Myosin-10 1976 229 17 Cell projection 0 0 1 1 5 1994-06-01 P36383 CXG1_HUMAN GJC1 Gap junction gamma-1 protein 396 45.5 17 Cell membrane; Cell junction 4 0 1 1 5 1994-06-01 P37837 TALDO_HUMAN TALDO1 Transaldolase 337 37.5 11 2.2.1.2 Nucleus; Cytoplasm 0 1 Transaldolase deficiency 1 1 5 1994-10-01 P38567 HYALP_HUMAN SPAM1 Hyaluronidase PH-20 509 57.8 7 3.2.1.35 Cell membrane 0 0 1 1 5 1994-10-01 P40238 TPOR_HUMAN MPL Thrombopoietin receptor 635 71.2 1 Cell membrane; Golgi apparatus; Cell surface 1 3 Amegakaryocytic thrombocytopenia, congenital, 1; Thrombocythemia 2; Myelofibrosis with myeloid metaplasia 1 1 5 1995-02-01 P41002 CCNF_HUMAN CCNF Cyclin-F 786 87.6 16 Nucleus; Cytoplasm 0 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 1 1 5 1995-02-01 P41238 ABEC1_HUMAN APOBEC1 C->U-editing enzyme APOBEC-1 236 28.2 12 3.5.4.- Cytoplasm; Nucleus 0 0 1 1 5 1995-02-01 P42261 GRIA1_HUMAN GRIA1 Glutamate receptor 1 906 101.5 5 Cell membrane; Endoplasmic reticulum membrane; Postsynaptic cell membrane; Postsynaptic density membrane; Cell projection; Early endosome membrane; Recycling endosome membrane; Presynapse; Synapse 3 2 Intellectual developmental disorder, autosomal dominant 67; Intellectual developmental disorder, autosomal recessive 76 1 1 5 1995-11-01 P42892 ECE1_HUMAN ECE1 Endothelin-converting enzyme 1 770 87.2 1 3.4.24.71 Cell membrane 1 1 Hirschsprung disease, cardiac defects, and autonomic dysfunction 1 1 5 1995-11-01 P45954 ACDSB_HUMAN ACADSB Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial 432 47.5 10 1.3.8.1 Mitochondrion matrix 0 1 Short/branched-chain acyl-CoA dehydrogenase deficiency 1 1 5 1995-11-01 P49190 PTH2R_HUMAN PTH2R Parathyroid hormone 2 receptor 550 62.2 2 Cell membrane 7 0 1 1 5 1996-02-01 P49448 DHE4_HUMAN GLUD2 Glutamate dehydrogenase 2, mitochondrial 558 61.4 X 1.4.1.3 Mitochondrion matrix 0 0 1 1 5 1996-02-01 P49753 ACOT2_HUMAN ACOT2 Acyl-coenzyme A thioesterase 2, mitochondrial 483 53.2 14 3.1.2.2 Mitochondrion 0 0 1 1 5 1996-10-01 P49758 RGS6_HUMAN RGS6 Regulator of G protein signaling 6 472 54.4 14 Cytoplasm; Membrane; Nucleus; Cell membrane 0 0 1 1 5 1996-10-01 P50391 NPY4R_HUMAN NPY4R Neuropeptide Y receptor type 4 375 42.1 10 Cell membrane 7 0 1 1 5 1996-10-01 P51582 P2RY4_HUMAN P2RY4 P2Y purinoceptor 4 365 41 X Cell membrane 7 0 1 1 5 1996-10-01 P51825 AFF1_HUMAN AFF1 AF4/FMR2 family member 1 1210 131.4 4 Nucleus 0 0 1 1 5 1996-10-01 P52790 HXK3_HUMAN HK3 Hexokinase-3 923 99 5 2.7.1.1 0 0 1 1 5 1996-10-01 P53004 BIEA_HUMAN BLVRA Biliverdin reductase A 296 33.4 7 1.3.1.24 Cytoplasm 0 1 Hyperbiliverdinemia 1 1 5 1996-10-01 P53602 MVD1_HUMAN MVD Diphosphomevalonate decarboxylase 400 43.4 16 4.1.1.33 Cytoplasm 0 1 Porokeratosis 7, multiple types 1 1 5 1996-10-01 P53814 SMTN_HUMAN SMTN Smoothelin 917 99.1 22 Cytoplasm 0 0 1 1 5 1996-10-01 P54277 PMS1_HUMAN PMS1 PMS1 protein homolog 1 932 105.8 2 Nucleus 0 0 1 1 5 1996-10-01 P54868 HMCS2_HUMAN HMGCS2 Hydroxymethylglutaryl-CoA synthase, mitochondrial 508 56.6 1 2.3.3.10 Mitochondrion 0 1 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency 1 1 5 1996-10-01 P55199 ELL_HUMAN ELL RNA polymerase II elongation factor ELL 621 68.3 19 Nucleus; Nucleus speckle 0 0 1 1 5 1996-10-01 P55316 FOXG1_HUMAN FOXG1 Forkhead box protein G1 489 52.4 14 Nucleus 0 1 Rett syndrome congenital variant 1 1 5 1996-10-01 P55318 FOXA3_HUMAN FOXA3 Hepatocyte nuclear factor 3-gamma 350 37.1 19 Nucleus 0 0 1 1 5 1996-10-01 P55344 LMIP_HUMAN LIM2 Lens fiber membrane intrinsic protein 173 19.7 19 Membrane 4 1 Cataract, multiple types 19 1 1 5 1997-11-01 P55345 ANM2_HUMAN PRMT2 Protein arginine N-methyltransferase 2 433 49 21 2.1.1.319 Cytoplasm; Nucleus 0 0 1 1 5 1997-11-01 P55347 PKNX1_HUMAN PKNOX1 Homeobox protein PKNOX1 436 47.6 21 Nucleus 0 0 1 1 5 1997-11-01 P55773 CCL23_HUMAN CCL23 C-C motif chemokine 23 120 13.4 17 Secreted 0 0 1 1 5 1997-11-01 P56915 GSC_HUMAN GSC Homeobox protein goosecoid 257 28.2 14 Nucleus 0 1 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 1 1 5 2000-05-30 P57052 RBM11_HUMAN RBM11 Splicing regulator RBM11 281 32.2 21 Nucleus; Nucleus speckle 0 0 1 1 5 2000-12-01 P59910 DJB13_HUMAN DNAJB13 DnaJ homolog subfamily B member 13 316 36.1 11 Cell projection 0 1 Ciliary dyskinesia, primary, 34 1 1 5 2003-10-10 P61764 STXB1_HUMAN STXBP1 Syntaxin-binding protein 1 594 67.6 9 Cytoplasm; Membrane 0 1 Developmental and epileptic encephalopathy 4 1 1 5 2004-06-07 P62879 GBB2_HUMAN GNB2 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2 340 37.3 7 Cytoplasm; Cell membrane 0 2 Neurodevelopmental disorder with hypotonia and dysmorphic facies; Sick sinus syndrome 4 1 1 5 2004-08-16 P68402 PA1B2_HUMAN PAFAH1B2 Platelet-activating factor acetylhydrolase IB subunit alpha2 229 25.6 11 3.1.1.47 Cytoplasm 0 0 1 1 5 2004-11-23 P78325 ADAM8_HUMAN ADAM8 Disintegrin and metalloproteinase domain-containing protein 8 824 88.8 10 3.4.24.- Membrane 1 0 1 1 5 1997-11-01 P84085 ARF5_HUMAN ARF5 ADP-ribosylation factor 5 180 20.5 7 Cell membrane; Golgi apparatus; Cytoplasm; Lysosome membrane 0 0 1 1 5 2004-08-16 P98179 RBM3_HUMAN RBM3 RNA-binding protein 3 157 17.2 X Nucleus; Cytoplasm; Cell projection 0 0 1 1 5 1996-10-01 Q02241 KIF23_HUMAN KIF23 Kinesin-like protein KIF23 960 110.1 15 Nucleus; Cytoplasm; Midbody 0 1 Anemia, congenital dyserythropoietic, 3A 1 1 5 1993-07-01 Q02539 H11_HUMAN H1-1 Histone H1.1 215 21.8 6 Nucleus; Chromosome 0 0 1 1 5 2001-09-26 Q02779 M3K10_HUMAN MAP3K10 Mitogen-activated protein kinase kinase kinase 10 954 103.7 19 2.7.11.25 0 0 1 1 5 1994-02-01 Q03014 HHEX_HUMAN HHEX Hematopoietically-expressed homeobox protein HHEX 270 30 10 Nucleus; Cytoplasm 0 0 1 1 5 1994-06-01 Q03113 GNA12_HUMAN GNA12 Guanine nucleotide-binding protein subunit alpha-12 381 44.3 7 Cell membrane; Lateral cell membrane; Cytoplasm 0 0 1 1 5 1993-10-01 Q05469 LIPS_HUMAN LIPE Hormone-sensitive lipase 1076 116.6 19 3.1.1.79 Cell membrane; Membrane; Cytoplasm; Lipid droplet 0 1 Lipodystrophy, familial partial, 6 1 1 5 1994-02-01 Q06418 TYRO3_HUMAN TYRO3 Tyrosine-protein kinase receptor TYRO3 890 96.9 15 2.7.10.1 Cell membrane 1 0 1 1 5 1996-10-01 Q06710 PAX8_HUMAN PAX8 Paired box protein Pax-8 450 48.2 2 Nucleus 0 1 Hypothyroidism, congenital, non-goitrous, 2 1 1 5 1994-06-01 Q12955 ANK3_HUMAN ANK3 Ankyrin-3 4377 480.4 10 Cytoplasm; Cell projection; Cell membrane; Postsynaptic cell membrane; Lysosome 0 1 Intellectual developmental disorder, autosomal recessive 37 1 1 5 2002-07-11 Q13445 TMED1_HUMAN TMED1 Transmembrane emp24 domain-containing protein 1 227 25.2 19 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane 1 0 1 1 5 2006-09-05 Q13519 PNOC_HUMAN PNOC Prepronociceptin 176 20.3 8 Secreted 0 0 1 1 5 1997-11-01 Q13613 MTMR1_HUMAN MTMR1 Phosphatidylinositol-3-phosphate phosphatase MTMR1 665 74.7 X 3.1.3.- Cell membrane; Cytoplasm 0 0 1 1 5 1997-11-01 Q14139 UBE4A_HUMAN UBE4A Ubiquitin conjugation factor E4 A 1066 122.6 11 2.3.2.27 Cytoplasm 0 1 Neurodevelopmental disorder with hypotonia and gross motor and speech delay 1 1 5 1997-11-01 Q14156 EFR3A_HUMAN EFR3A Protein EFR3 homolog A 821 92.9 8 Cell membrane; Cytoplasm 0 0 1 1 5 1997-11-01 Q14183 DOC2A_HUMAN DOC2A Double C2-like domain-containing protein alpha 400 44 16 Lysosome; Cytoplasmic vesicle; Synapse 0 0 1 1 5 2004-08-31 Q14185 DOCK1_HUMAN DOCK1 Dedicator of cytokinesis protein 1 1865 215.3 10 Cytoplasm; Membrane 0 0 1 1 5 2003-07-03 Q14541 HNF4G_HUMAN HNF4G Hepatocyte nuclear factor 4-gamma 408 45.9 8 Nucleus 0 0 1 1 5 1999-07-15 Q14627 I13R2_HUMAN IL13RA2 Interleukin-13 receptor subunit alpha-2 380 44.2 X Cell membrane 1 0 1 1 5 1997-11-01 Q14847 LASP1_HUMAN LASP1 LIM and SH3 domain protein 1 261 29.7 17 Cytoplasm 0 0 1 1 5 1998-07-15 Q14894 CRYM_HUMAN CRYM Ketimine reductase mu-crystallin 314 33.8 16 1.5.1.25 Cytoplasm 0 1 Deafness, autosomal dominant, 40 1 1 5 1997-11-01 Q14982 OPCM_HUMAN OPCML Opioid-binding protein/cell adhesion molecule 345 38 11 Cell membrane 0 1 Ovarian cancer 1 1 5 1997-11-01 Q15042 RB3GP_HUMAN RAB3GAP1 Rab3 GTPase-activating protein catalytic subunit 981 110.5 2 Cytoplasm; Endoplasmic reticulum; Golgi apparatus 0 2 Warburg micro syndrome 1; Martsolf syndrome 2 1 1 5 2005-04-12 Q15363 TMED2_HUMAN TMED2 Transmembrane emp24 domain-containing protein 2 201 22.8 12 Cytoplasmic vesicle membrane; Cytoplasmic vesicle; Golgi apparatus; Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane 1 0 1 1 5 1998-12-15 Q15475 SIX1_HUMAN SIX1 Homeobox protein SIX1 284 32.2 14 Nucleus; Cytoplasm 0 2 Deafness, autosomal dominant, 23; Branchiootic syndrome 3 1 1 5 1997-11-01 Q15532 SSXT_HUMAN SS18 Protein SSXT 418 45.9 18 Nucleus 0 0 1 1 5 1998-12-15 Q15653 IKBB_HUMAN NFKBIB NF-kappa-B inhibitor beta 356 37.8 19 Cytoplasm; Nucleus 0 0 1 1 5 1997-11-01 Q15768 EFNB3_HUMAN EFNB3 Ephrin-B3 340 35.8 17 Membrane 1 0 1 1 5 1997-11-01 Q17RS7 GEN_HUMAN GEN1 Flap endonuclease GEN homolog 1 908 102.9 2 3.1.-.- Nucleus 0 0 1 1 5 2008-01-15 Q3MIT2 PUS10_HUMAN PUS10 tRNA pseudouridine synthase Pus10 529 60.2 2 5.4.99.25 Nucleus; Cytoplasm; Mitochondrion 0 0 1 1 5 2007-09-11 Q3YBR2 TBRG1_HUMAN TBRG1 Transforming growth factor beta regulator 1 411 44.9 11 Nucleus 0 0 1 1 5 2007-02-06 Q494V2 CP100_HUMAN CFAP100 Cilia- and flagella-associated protein 100 611 71.1 3 Cytoplasm 0 0 1 1 5 2006-05-16 Q4LDG9 DNAL1_HUMAN DNAL1 Dynein axonemal light chain 1 190 21.5 14 Cytoplasm 0 1 Ciliary dyskinesia, primary, 16 1 1 5 2007-03-20 Q4VC44 FWCH1_HUMAN FLYWCH1 FLYWCH-type zinc finger-containing protein 1 716 80.1 16 Nucleus; Chromosome 0 0 1 1 5 2008-01-15 Q53F19 NCBP3_HUMAN NCBP3 Nuclear cap-binding protein subunit 3 620 70.6 17 Nucleus; Cytoplasm 0 0 1 1 5 2007-10-23 Q5JTV8 TOIP1_HUMAN TOR1AIP1 Torsin-1A-interacting protein 1 583 66.2 1 Nucleus inner membrane 1 1 Myopathy, autosomal recessive, with rigid spine and distal joint contractures 1 1 5 2006-03-21 Q5R372 RBG1L_HUMAN RABGAP1L Rab GTPase-activating protein 1-like 815 92.5 1 Cytoplasmic vesicle; Early endosome; Golgi apparatus 0 1 Leukemia, acute myelogenous 1 1 5 2008-09-02 Q5RL73 RBM48_HUMAN RBM48 RNA-binding protein 48 367 41.8 7 0 0 1 1 5 2008-02-26 Q5SSJ5 HP1B3_HUMAN HP1BP3 Heterochromatin protein 1-binding protein 3 553 61.2 1 Nucleus; Chromosome 0 0 1 1 5 2008-06-10 Q5SZQ8 CELF3_HUMAN CELF3 CUGBP Elav-like family member 3 465 50.5 1 Nucleus; Cytoplasm 0 0 1 1 5 2007-07-10 Q5T0T0 MARH8_HUMAN MARCHF8 E3 ubiquitin-protein ligase MARCHF8 291 33 10 2.3.2.27 Golgi apparatus membrane; Endoplasmic reticulum membrane; Cytoplasmic vesicle membrane; Lysosome membrane; Early endosome membrane 2 0 1 1 5 2007-02-06 Q5T1V6 DDX59_HUMAN DDX59 Probable ATP-dependent RNA helicase DDX59 619 68.8 1 3.6.4.13 Cytoplasm; Nucleus 0 1 Orofaciodigital syndrome 5 1 1 5 2007-04-03 Q5T200 ZC3HD_HUMAN ZC3H13 Zinc finger CCCH domain-containing protein 13 1668 196.6 13 Nucleus speckle; Nucleus 0 0 1 1 5 2005-06-21 Q5T4F4 ZFY27_HUMAN ZFYVE27 Protrudin 411 45.8 10 Endoplasmic reticulum membrane; Late endosome membrane; Recycling endosome membrane; Cell projection 2 0 1 1 5 2006-07-11 Q5TCQ9 MAGI3_HUMAN MAGI3 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 3 1481 162.9 1 Cell membrane; Cell junction; Nucleus 0 0 1 1 5 2008-06-10 Q5VY09 IER5_HUMAN IER5 Immediate early response gene 5 protein 327 33.7 1 Nucleus; Cytoplasm 0 0 1 1 5 2005-08-30 Q5VYX0 RNLS_HUMAN RNLS Renalase 342 37.8 10 1.6.3.5 Secreted 0 0 1 1 5 2005-08-30 Q5VZ89 DEN4C_HUMAN DENND4C DENN domain-containing protein 4C 1909 212.7 9 Cytoplasmic vesicle membrane; Cell membrane; Cytoplasm 0 0 1 1 5 2005-07-19 Q68DC2 ANKS6_HUMAN ANKS6 Ankyrin repeat and SAM domain-containing protein 6 871 92.2 9 Cell projection; Cytoplasm 0 1 Nephronophthisis 16 1 1 5 2005-12-06 Q6E0U4 DMKN_HUMAN DMKN Dermokine 476 47.1 19 Secreted 0 0 1 1 5 2008-04-29 Q6NVY1 HIBCH_HUMAN HIBCH 3-hydroxyisobutyryl-CoA hydrolase, mitochondrial 386 43.5 2 3.1.2.4 Mitochondrion 0 1 3-hydroxyisobutryl-CoA hydrolase deficiency 1 1 5 2007-05-01 Q6NZ67 MZT2B_HUMAN MZT2B Mitotic-spindle organizing protein 2B 158 16.2 2 Cytoplasm 0 0 1 1 5 2008-06-10 Q6P4F7 RHGBA_HUMAN ARHGAP11A Rho GTPase-activating protein 11A 1023 113.9 15 Nucleus 0 0 1 1 5 2006-12-12 Q6P589 TP8L2_HUMAN TNFAIP8L2 Tumor necrosis factor alpha-induced protein 8-like protein 2 184 20.6 1 Cytoplasm; Nucleus; Lysosome 0 0 1 1 5 2007-05-01 Q6PML9 ZNT9_HUMAN SLC30A9 Proton-coupled zinc antiporter SLC30A9, mitochondrial 568 63.5 4 Mitochondrion membrane; Nucleus; Endoplasmic reticulum 5 1 Birk-Landau-Perez syndrome 1 1 5 2007-07-24 Q6ZMI0 PPR21_HUMAN PPP1R21 Protein phosphatase 1 regulatory subunit 21 780 88.3 2 Early endosome 0 1 Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities 1 1 5 2007-05-01 Q6ZN44 UNC5A_HUMAN UNC5A Netrin receptor UNC5A 842 92.9 5 Cell membrane; Membrane raft; Cell projection 1 0 1 1 5 2004-10-11 Q76N89 HECW1_HUMAN HECW1 E3 ubiquitin-protein ligase HECW1 1606 179.6 7 2.3.2.26 Cytoplasm 0 0 1 1 5 2007-02-20 Q7L2E3 DHX30_HUMAN DHX30 ATP-dependent RNA helicase DHX30 1194 133.9 3 3.6.4.13 Cytoplasm; Mitochondrion; Mitochondrion matrix 0 1 Neurodevelopmental disorder with variable motor and language impairment 1 1 5 2006-07-11 Q7Z494 NPHP3_HUMAN NPHP3 Nephrocystin-3 1330 150.9 3 Cell projection 0 3 Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1; Meckel syndrome 7 1 1 5 2005-07-05 Q7Z4T9 CFA91_HUMAN CFAP91 Cilia- and flagella-associated protein 91 767 90 3 Mitochondrion; Cytoplasm 0 1 Spermatogenic failure 51 1 1 5 2005-07-19 Q7Z7D3 VTCN1_HUMAN VTCN1 V-set domain-containing T-cell activation inhibitor 1 282 30.9 1 Cell membrane 1 0 1 1 5 2008-06-10 Q86UR5 RIMS1_HUMAN RIMS1 Regulating synaptic membrane exocytosis protein 1 1692 189.1 6 Cell membrane; Synapse; Presynaptic cell membrane 0 0 1 1 5 2003-08-29 Q86VI3 IQGA3_HUMAN IQGAP3 Ras GTPase-activating-like protein IQGAP3 1631 184.7 1 0 0 1 1 5 2004-06-21 Q86VQ6 TRXR3_HUMAN TXNRD3 Thioredoxin reductase 3 643 70.7 3 1.8.1.9 Cytoplasm; Nucleus; Microsome; Endoplasmic reticulum 0 0 1 1 5 2008-02-26 Q86WV1 SKAP1_HUMAN SKAP1 Src kinase-associated phosphoprotein 1 359 41.4 17 Cytoplasm; Nucleus; Cell membrane 0 0 1 1 5 2007-01-09 Q86XI2 CNDG2_HUMAN NCAPG2 Condensin-2 complex subunit G2 1143 131 7 Nucleus 0 1 Khan-Khan-Katsanis syndrome 1 1 5 2006-10-31 Q86XN8 MEX3D_HUMAN MEX3D RNA-binding protein MEX3D 651 64.9 19 Cytoplasm; Nucleus 0 0 1 1 5 2004-04-13 Q8IV63 VRK3_HUMAN VRK3 Serine/threonine-protein kinase VRK3 474 52.9 19 2.7.11.22 Nucleus; Cytoplasm 0 0 1 1 5 2003-10-10 Q8IVF2 AHNK2_HUMAN AHNAK2 Protein AHNAK2 5795 616.6 14 Nucleus 0 0 1 1 5 2008-02-26 Q8IVH8 M4K3_HUMAN MAP4K3 Mitogen-activated protein kinase kinase kinase kinase 3 894 101.3 2 2.7.11.1 0 0 1 1 5 2003-03-28 Q8IVM0 CCD50_HUMAN CCDC50 Coiled-coil domain-containing protein 50 306 35.8 3 Cytoplasm 0 1 Deafness, autosomal dominant, 44 1 1 5 2005-08-16 Q8IX05 CD302_HUMAN CD302 CD302 antigen 232 26.2 2 Cell membrane; Cell projection; Cytoplasm 1 0 1 1 5 2006-10-03 Q8IZP0 ABI1_HUMAN ABI1 Abl interactor 1 508 55.1 10 Cytoplasm; Nucleus; Cell projection; Postsynaptic density 0 0 1 1 5 2004-07-19 Q8IZU3 SYCP3_HUMAN SYCP3 Synaptonemal complex protein 3 236 27.7 12 Nucleus; Chromosome 0 2 Spermatogenic failure 4; Pregnancy loss, recurrent, 4 1 1 5 2006-03-21 Q8IZU9 KIRR3_HUMAN KIRREL3 Kin of IRRE-like protein 3 778 85.3 11 Cell membrane 1 0 1 1 5 2004-10-25 Q8N136 DAW1_HUMAN DAW1 Dynein assembly factor with WD repeat domains 1 415 45.8 2 Cytoplasm 0 1 Ciliary dyskinesia, primary, 52 1 1 5 2006-06-27 Q8N1Q8 THEM5_HUMAN THEM5 Acyl-coenzyme A thioesterase THEM5 247 27.7 1 3.1.2.2 Mitochondrion matrix 0 0 1 1 5 2007-04-17 Q8N335 GPD1L_HUMAN GPD1L Glycerol-3-phosphate dehydrogenase 1-like protein 351 38.4 3 1.1.1.8 Cytoplasm 0 1 Brugada syndrome 2 1 1 5 2007-05-15 Q8N3F8 MILK1_HUMAN MICALL1 MICAL-like protein 1 863 93.4 22 Recycling endosome membrane; Late endosome membrane; Cell projection; Cytoplasm 0 0 1 1 5 2003-04-23 Q8N3I7 BBS5_HUMAN BBS5 BBSome complex member BBS5 341 38.8 2 Cell projection; Cytoplasm 0 1 Bardet-Biedl syndrome 5 1 1 5 2006-02-07 Q8N5Z5 KCD17_HUMAN KCTD17 BTB/POZ domain-containing protein KCTD17 314 34.9 22 Cytoplasm 0 1 Dystonia 26, myoclonic 1 1 5 2006-07-25 Q8N6H7 ARFG2_HUMAN ARFGAP2 ADP-ribosylation factor GTPase-activating protein 2 521 56.7 11 Golgi apparatus membrane; Cytoplasm 0 0 1 1 5 2007-02-20 Q8NAU1 FNDC5_HUMAN FNDC5 Fibronectin type III domain-containing protein 5 260 28.3 1 Cell membrane; Peroxisome membrane 1 0 1 1 5 2008-04-08 Q8NC06 ACBD4_HUMAN ACBD4 Acyl-CoA-binding domain-containing protein 4 268 30.3 17 0 0 1 1 5 2005-06-07 Q8NCD3 HJURP_HUMAN HJURP Holliday junction recognition protein 748 83.5 2 Nucleus; Chromosome 0 0 1 1 5 2007-05-15 Q8NEJ0 DUS18_HUMAN DUSP18 Dual specificity protein phosphatase 18 188 21.1 22 3.1.3.16, 3.1.3.48 Cytoplasm; Nucleus; Mitochondrion inner membrane 0 0 1 1 5 2003-02-28 Q8NFA2 NOXO1_HUMAN NOXO1 NADPH oxidase organizer 1 376 41.3 16 Cell membrane 0 0 1 1 5 2006-03-21 Q8NFJ9 BBS1_HUMAN BBS1 BBSome complex member BBS1 593 65.1 11 Cell projection; Cytoplasm 0 1 Bardet-Biedl syndrome 1 1 1 5 2003-11-07 Q8TBY9 CF251_HUMAN CFAP251 Cilia- and flagella-associated protein 251 1149 130 12 Cytoplasm; Cell projection 0 1 Spermatogenic failure 33 1 1 5 2007-07-24 Q8TD84 DSCL1_HUMAN DSCAML1 Cell adhesion molecule DSCAML1 2053 224.5 11 Cell membrane; Synapse 1 0 1 1 5 2005-08-16 Q8TDF6 GRP4_HUMAN RASGRP4 RAS guanyl-releasing protein 4 673 74.9 19 Cytoplasm; Cell membrane 0 0 1 1 5 2008-01-15 Q8WVV5 BT2A2_HUMAN BTN2A2 Butyrophilin subfamily 2 member A2 523 59.1 6 Membrane 1 0 1 1 5 2005-02-01 Q8WWI1 LMO7_HUMAN LMO7 LIM domain only protein 7 1683 192.7 13 0 0 1 1 5 2004-03-15 Q8WWZ1 IL1FA_HUMAN IL1F10 Interleukin-1 family member 10 152 16.9 2 Cytoplasm; Secreted 0 0 1 1 5 2002-11-08 Q8WXH5 SOCS4_HUMAN SOCS4 Suppressor of cytokine signaling 4 440 50.6 14 0 0 1 1 5 2002-04-16 Q92598 HS105_HUMAN HSPH1 Heat shock protein 105 kDa 858 96.9 13 Cytoplasm 0 0 1 1 5 1997-11-01 Q92738 US6NL_HUMAN USP6NL USP6 N-terminal-like protein 828 94.1 10 Golgi apparatus; Cytoplasmic vesicle 0 0 1 1 5 2004-07-30 Q92820 GGH_HUMAN GGH Gamma-glutamyl hydrolase 318 36 8 3.4.19.9 Secreted; Lysosome; Melanosome 0 0 1 1 5 1999-07-15 Q92990 GLMN_HUMAN GLMN Glomulin 594 68.2 1 0 1 Glomuvenous malformations 1 1 5 2000-12-01 Q969H4 CNKR1_HUMAN CNKSR1 Connector enhancer of kinase suppressor of ras 1 720 79.7 1 Cytoplasm; Membrane 0 0 1 1 5 2004-07-19 Q969Z0 FAKD4_HUMAN TBRG4 FAST kinase domain-containing protein 4 631 70.7 7 Mitochondrion matrix 0 0 1 1 5 2007-01-23 Q96C36 P5CR2_HUMAN PYCR2 Pyrroline-5-carboxylate reductase 2 320 33.6 1 1.5.1.2 Cytoplasm; Mitochondrion 0 1 Leukodystrophy, hypomyelinating, 10 1 1 5 2005-03-01 Q96DA0 PAUF_HUMAN ZG16B Pancreatic adenocarcinoma up-regulated factor 172 18.9 16 Secreted; Cytoplasm; Cell membrane; Apicolateral cell membrane 0 0 1 1 5 2006-09-05 Q96DM3 RMC1_HUMAN RMC1 Regulator of MON1-CCZ1 complex 657 75 18 Lysosome membrane; Late endosome membrane 0 0 1 1 5 2004-05-24 Q96EY5 MB12A_HUMAN MVB12A Multivesicular body subunit 12A 273 28.8 19 Cytoplasm; Nucleus; Endosome; Late endosome membrane 0 0 1 1 5 2006-09-05 Q96F44 TRI11_HUMAN TRIM11 E3 ubiquitin-protein ligase TRIM11 468 52.8 1 2.3.2.27 Cytoplasm; Nucleus 0 0 1 1 5 2002-12-06 Q96I51 RCC1L_HUMAN RCC1L RCC1-like G exchanging factor-like protein 464 49.9 7 Mitochondrion membrane 0 0 1 1 5 2002-10-10 Q96IZ5 RBM41_HUMAN RBM41 RNA-binding protein 41 413 47.1 X 0 0 1 1 5 2006-10-31 Q96JB3 HIC2_HUMAN HIC2 Hypermethylated in cancer 2 protein 615 66.2 22 Nucleus 0 0 1 1 5 2002-05-02 Q96JC1 VPS39_HUMAN VPS39 Vam6/Vps39-like protein 886 101.8 15 Cytoplasm; Lysosome membrane; Late endosome membrane 0 0 1 1 5 2002-11-25 Q96JY0 MAEL_HUMAN MAEL Protein maelstrom homolog 434 49.2 1 Cytoplasm; Nucleus 0 0 1 1 5 2006-04-18 Q96JZ2 HSH2D_HUMAN HSH2D Hematopoietic SH2 domain-containing protein 352 39 19 Cytoplasm; Nucleus 0 0 1 1 5 2006-05-02 Q96KB5 TOPK_HUMAN PBK Lymphokine-activated killer T-cell-originated protein kinase 322 36.1 8 2.7.12.2 0 0 1 1 5 2005-02-01 Q96KS0 EGLN2_HUMAN EGLN2 Prolyl hydroxylase EGLN2 407 43.7 19 1.14.11.- Nucleus 0 0 1 1 5 2003-06-16 Q96L50 LLR1_HUMAN LRR1 Leucine-rich repeat protein 1 414 46.7 14 Nucleus 0 0 1 1 5 2003-09-26 Q96L58 B3GT6_HUMAN B3GALT6 Beta-1,3-galactosyltransferase 6 329 37.1 1 2.4.1.134 Golgi apparatus 1 3 Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures; Al-Gazali syndrome 1 1 5 2005-03-15 Q96NG3 ODAD4_HUMAN ODAD4 Outer dynein arm-docking complex subunit 4 672 76.7 17 Cytoplasm 0 1 Ciliary dyskinesia, primary, 35 1 1 5 2007-04-17 Q96P47 AGAP3_HUMAN AGAP3 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 875 95 7 Cytoplasm 0 0 1 1 5 2003-01-27 Q96PZ7 CSMD1_HUMAN CSMD1 CUB and sushi domain-containing protein 1 3564 388.7 8 Membrane 1 0 1 1 5 2003-11-28 Q96Q04 LMTK3_HUMAN LMTK3 Serine/threonine-protein kinase LMTK3 1460 153.7 19 2.7.11.1 Membrane; Cell projection; Golgi apparatus membrane 1 0 1 1 5 2006-10-31 Q96RK4 BBS4_HUMAN BBS4 BBSome complex member BBS4 519 58.3 15 Cytoplasm; Cell projection 0 1 Bardet-Biedl syndrome 4 1 1 5 2002-05-02 Q96TA1 NIBA2_HUMAN NIBAN2 Protein Niban 2 746 84.1 9 Cytoplasm; Cell junction; Membrane 0 0 1 1 5 2002-08-13 Q99959 PKP2_HUMAN PKP2 Plakophilin-2 881 97.4 12 Nucleus; Cell junction; Cytoplasm 0 1 Arrhythmogenic right ventricular dysplasia, familial, 9 1 1 5 2002-01-23 Q99983 OMD_HUMAN OMD Osteomodulin 421 49.5 9 Secreted 0 0 1 1 5 2002-02-11 Q9BQ50 TREX2_HUMAN TREX2 Three prime repair exonuclease 2 236 25.9 X 3.1.11.2 Nucleus 0 0 1 1 5 2004-05-24 Q9BQE5 APOL2_HUMAN APOL2 Apolipoprotein L2 337 37.1 22 Cytoplasm 0 0 1 1 5 2001-08-29 Q9BRA2 TXD17_HUMAN TXNDC17 Thioredoxin domain-containing protein 17 123 13.9 17 Cytoplasm 0 0 1 1 5 2006-01-10 Q9BRL6 SRSF8_HUMAN SRSF8 Serine/arginine-rich splicing factor 8 282 32.3 11 Nucleus 0 0 1 1 5 2007-09-11 Q9BSF0 SMAKA_HUMAN AKAP19 A-kinase anchoring protein 19 95 11 2 Cell membrane 0 0 1 1 5 2008-09-02 Q9BSL1 UBAC1_HUMAN UBAC1 Ubiquitin-associated domain-containing protein 1 405 45.3 9 Cytoplasm 0 0 1 1 5 2006-10-03 Q9BT25 HAUS8_HUMAN HAUS8 HAUS augmin-like complex subunit 8 410 44.9 19 Cytoplasm 0 0 1 1 5 2008-02-26 Q9BT56 SPXN_HUMAN SPX Spexin 116 13.3 12 Secreted; Cytoplasmic vesicle 0 0 1 1 5 2005-09-27 Q9BUD6 SPON2_HUMAN SPON2 Spondin-2 331 35.8 4 Secreted 0 0 1 1 5 2004-09-27 Q9BUF7 CRUM3_HUMAN CRB3 Protein crumbs homolog 3 120 12.9 19 Apical cell membrane; Cell junction 1 0 1 1 5 2005-06-07 Q9BV73 CP250_HUMAN CEP250 Centrosome-associated protein CEP250 2442 281.1 20 Cytoplasm; Cell projection; Photoreceptor inner segment 0 1 Cone-rod dystrophy and hearing loss 2 1 1 5 2003-05-09 Q9BWK5 CYREN_HUMAN CYREN Cell cycle regulator of non-homologous end joining 157 16.8 7 Cytoplasm; Nucleus; Chromosome 0 0 1 1 5 2008-02-26 Q9BXB4 OSB11_HUMAN OSBPL11 Oxysterol-binding protein-related protein 11 747 83.6 3 Late endosome membrane; Golgi apparatus 0 0 1 1 5 2002-02-11 Q9BXJ7 AMNLS_HUMAN AMN Protein amnionless 453 47.8 14 Apical cell membrane; Cell membrane; Endosome membrane; Membrane 1 1 Imerslund-Grasbeck syndrome 2 1 1 5 2003-06-20 Q9BXS9 S26A6_HUMAN SLC26A6 Solute carrier family 26 member 6 759 83 3 Cell membrane; Apical cell membrane; Cytoplasmic vesicle membrane; Microsome 8 0 1 1 5 2002-03-05 Q9BY49 PECR_HUMAN PECR Peroxisomal trans-2-enoyl-CoA reductase 303 32.5 2 1.3.1.38 Peroxisome 0 0 1 1 5 2005-03-29 Q9BY50 SC11C_HUMAN SEC11C Signal peptidase complex catalytic subunit SEC11C 192 21.5 18 3.4.21.89 Endoplasmic reticulum membrane 1 0 1 1 5 2001-11-02 Q9BYE2 TMPSD_HUMAN TMPRSS13 Transmembrane protease serine 13 586 63.2 11 3.4.21.- Cell membrane; Secreted; Cytoplasm 1 0 1 1 5 2005-03-15 Q9BYT3 STK33_HUMAN STK33 Serine/threonine-protein kinase 33 514 57.8 11 2.7.11.1 Cytoplasm 0 1 Spermatogenic failure 93 1 1 5 2006-04-18 Q9BYV2 TRI54_HUMAN TRIM54 Tripartite motif-containing protein 54 358 40.3 2 Cytoplasm 0 0 1 1 5 2005-11-08 Q9BYX2 TBD2A_HUMAN TBC1D2 TBC1 domain family member 2A 928 105.4 9 Cytoplasm; Cytoplasmic vesicle; Cell junction 0 0 1 1 5 2002-10-10 Q9BZ23 PANK2_HUMAN PANK2 Pantothenate kinase 2, mitochondrial 570 62.7 20 2.7.1.33 Mitochondrion; Mitochondrion intermembrane space; Nucleus 0 1 Neurodegeneration with brain iron accumulation 1 1 1 5 2003-01-17 Q9C0G6 DYH6_HUMAN DNAH6 Dynein axonemal heavy chain 6 4158 476 2 Cytoplasm; Cell projection 0 0 1 1 5 2008-02-05 Q9GZS0 DNAI2_HUMAN DNAI2 Dynein axonemal intermediate chain 2 605 68.8 17 Cytoplasm; Dynein axonemal particle 0 1 Ciliary dyskinesia, primary, 9 1 1 5 2002-09-19 Q9H008 LHPP_HUMAN LHPP Phospholysine phosphohistidine inorganic pyrophosphate phosphatase 270 29.2 10 3.1.3.-, 3.6.1.1 Cytoplasm; Nucleus 0 0 1 1 5 2007-10-02 Q9H1R2 DUS15_HUMAN DUSP15 Dual specificity protein phosphatase 15 295 31.9 20 3.1.3.16, 3.1.3.48 Cytoplasm 0 0 1 1 5 2002-01-23 Q9H255 O51E2_HUMAN OR51E2 Olfactory receptor 51E2 320 35.5 11 Cell membrane; Early endosome membrane 7 0 1 1 5 2001-08-29 Q9H313 TTYH1_HUMAN TTYH1 Protein tweety homolog 1 450 49.1 19 Cell membrane 5 0 1 1 5 2007-12-04 Q9H4B4 PLK3_HUMAN PLK3 Serine/threonine-protein kinase PLK3 646 71.6 1 2.7.11.21 Cytoplasm; Nucleus; Golgi apparatus 0 0 1 1 5 2001-04-27 Q9H4Q4 PRD12_HUMAN PRDM12 PR domain zinc finger protein 12 367 40.4 9 Nucleus 0 1 Neuropathy, hereditary sensory and autonomic, 8 1 1 5 2002-11-08 Q9H706 GARE1_HUMAN GAREM1 GRB2-associated and regulator of MAPK protein 1 876 97.2 18 0 0 1 1 5 2007-02-06 Q9H777 RNZ1_HUMAN ELAC1 Zinc phosphodiesterase ELAC protein 1 363 40 18 3.1.26.11 Cytoplasm; Nucleus 0 0 1 1 5 2004-01-16 Q9HAJ7 SP30L_HUMAN SAP30L Histone deacetylase complex subunit SAP30L 183 20.9 5 Nucleus 0 0 1 1 5 2007-11-13 Q9HAQ2 KIF9_HUMAN KIF9 Kinesin-like protein KIF9 790 90 3 Cytoplasm; Cell projection 0 0 1 1 5 2001-08-29 Q9HC97 GPR35_HUMAN GPR35 G protein-coupled receptor 35 309 34.1 2 Cell membrane; Mitochondrion outer membrane 7 0 1 1 5 2001-08-14 Q9HCY8 S10AE_HUMAN S100A14 Protein S100-A14 104 11.7 1 Cytoplasm 0 0 1 1 5 2002-04-16 Q9HDC5 JPH1_HUMAN JPH1 Junctophilin-1 661 71.7 8 Cell membrane; Endoplasmic reticulum membrane; Sarcoplasmic reticulum membrane 1 1 Congenital myopathy 25 1 1 5 2003-01-17 Q9NP64 ZCC17_HUMAN ZCCHC17 Zinc finger CCHC domain-containing protein 17 241 27.6 1 Nucleus 0 0 1 1 5 2005-08-30 Q9NPG3 UBN1_HUMAN UBN1 Ubinuclein-1 1134 121.5 16 Nucleus; Cell junction 0 0 1 1 5 2005-10-25 Q9NQ86 TRI36_HUMAN TRIM36 E3 ubiquitin-protein ligase TRIM36 728 83 5 2.3.2.27 Cytoplasm; Cytoplasmic vesicle 0 1 Anencephaly 1 1 1 5 2004-12-07 Q9NQ94 A1CF_HUMAN A1CF APOBEC1 complementation factor 594 65.2 10 Nucleus; Endoplasmic reticulum; Cytoplasm 0 0 1 1 5 2005-12-20 Q9NQL2 RRAGD_HUMAN RRAGD Ras-related GTP-binding protein D 400 45.6 6 3.6.5.- Cytoplasm; Nucleus; Lysosome membrane 0 1 Hypomagnesemia 7, renal, with or without dilated cardiomyopathy 1 1 5 2006-06-13 Q9NQS3 NECT3_HUMAN NECTIN3 Nectin-3 549 61 3 Cell membrane; Postsynaptic cell membrane; Cell junction 1 0 1 1 5 2006-03-07 Q9NR71 ASAH2_HUMAN ASAH2 Neutral ceramidase 780 85.5 10 3.5.1.-, 3.5.1.23 Cell membrane; Membrane raft; Membrane; Golgi apparatus membrane; Mitochondrion; Secreted 1 0 1 1 5 2006-07-25 Q9NRL2 BAZ1A_HUMAN BAZ1A Bromodomain adjacent to zinc finger domain protein 1A 1556 178.7 14 Nucleus 0 0 1 1 5 2002-08-30 Q9NTI5 PDS5B_HUMAN PDS5B Sister chromatid cohesion protein PDS5 homolog B 1447 164.7 13 Nucleus 0 0 1 1 5 2007-05-15 Q9NUQ9 CYRIB_HUMAN CYRIB CYFIP-related Rac1 interactor B 324 36.7 8 Membrane; Mitochondrion 0 0 1 1 5 2004-09-27 Q9NV56 MRGBP_HUMAN MRGBP MRG/MORF4L-binding protein 204 22.4 20 Nucleus 0 0 1 1 5 2003-02-01 Q9NXH9 TRM1_HUMAN TRMT1 tRNA (guanine(26)-N(2))-dimethyltransferase 659 72.2 19 2.1.1.216 Mitochondrion 0 1 Intellectual developmental disorder, autosomal recessive 68 1 1 5 2001-01-11 Q9NZC9 SMAL1_HUMAN SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 954 105.9 2 3.6.4.-, 5.6.2.- Nucleus 0 1 Schimke immuno-osseous dysplasia 1 1 5 2005-03-01 Q9P0P8 MRES1_HUMAN MTRES1 Mitochondrial transcription rescue factor 1 240 27.9 6 Mitochondrion matrix 0 0 1 1 5 2005-07-19 Q9P107 GMIP_HUMAN GMIP GEM-interacting protein 970 106.7 19 0 0 1 1 5 2005-03-29 Q9P270 SLAI2_HUMAN SLAIN2 SLAIN motif-containing protein 2 581 62.5 4 Cytoplasm 0 0 1 1 5 2008-02-05 Q9P2J2 TUTLA_HUMAN IGSF9 Protein turtle homolog A 1179 126.6 1 Cell membrane; Synapse 1 0 1 1 5 2007-10-02 Q9P2K3 RCOR3_HUMAN RCOR3 REST corepressor 3 495 55.6 1 Nucleus 0 0 1 1 5 2006-03-07 Q9UBP9 GULP1_HUMAN GULP1 PTB domain-containing engulfment adapter protein 1 304 34.5 2 Cytoplasm 0 0 1 1 5 2007-07-24 Q9UG01 IF172_HUMAN IFT172 Intraflagellar transport protein 172 homolog 1749 197.6 2 Cell projection 0 3 Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 1 1 5 2008-04-08 Q9UGB7 MIOX_HUMAN MIOX Inositol oxygenase 285 33 22 1.13.99.1 Cytoplasm 0 0 1 1 5 2003-02-12 Q9UH65 SWP70_HUMAN SWAP70 Switch-associated protein 70 585 69 11 Cytoplasm; Cell membrane; Nucleus; Cell projection 0 0 1 1 5 2006-06-13 Q9UHD0 IL19_HUMAN IL19 Interleukin-19 177 20.5 1 Secreted 0 0 1 1 5 2001-11-16 Q9UHD4 CIDEB_HUMAN CIDEB Lipid transferase CIDEB 219 24.7 14 Lipid droplet; Endoplasmic reticulum membrane; Golgi apparatus; Cytoplasmic vesicle 0 0 1 1 5 2000-12-01 Q9UHF4 I20RA_HUMAN IL20RA Interleukin-20 receptor subunit alpha 553 62.5 6 Membrane 1 0 1 1 5 2004-08-31 Q9UHG0 DCDC2_HUMAN DCDC2 Doublecortin domain-containing protein 2 476 52.8 6 Cell projection; Cytoplasm 0 4 Dyslexia 2; Nephronophthisis 19; Deafness, autosomal recessive, 66; Sclerosing cholangitis, neonatal 1 1 5 2003-11-14 Q9UHL0 DDX25_HUMAN DDX25 ATP-dependent RNA helicase DDX25 483 54.7 11 3.6.4.13 Cytoplasm; Nucleus 0 0 1 1 5 2003-02-12 Q9UHP6 RSP14_HUMAN RSPH14 Radial spoke head 14 homolog 348 38.6 22 Cytoplasm 0 0 1 1 5 2003-03-25 Q9UJY4 GGA2_HUMAN GGA2 ADP-ribosylation factor-binding protein GGA2 613 67.2 16 Golgi apparatus; Endosome membrane; Early endosome membrane 0 0 1 1 5 2001-06-20 Q9UKB3 DJC12_HUMAN DNAJC12 DnaJ homolog subfamily C member 12 198 23.4 10 Cytoplasm 0 1 Hyperphenylalaninemia, mild, non-BH4-deficient 1 1 5 2003-02-01 Q9UKC9 FBXL2_HUMAN FBXL2 F-box/LRR-repeat protein 2 423 47.1 3 Membrane 0 0 1 1 5 2003-11-21 Q9UKJ5 CHIC2_HUMAN CHIC2 Cysteine-rich hydrophobic domain-containing protein 2 165 19.3 4 Cell membrane; Cytoplasmic vesicle 0 0 1 1 5 2005-02-01 Q9UL63 MKLN1_HUMAN MKLN1 Muskelin 735 84.8 7 Cytoplasm; Nucleus; Cell projection; Synapse; Postsynapse 0 0 1 1 5 2002-10-10 Q9ULJ6 ZMIZ1_HUMAN ZMIZ1 Zinc finger MIZ domain-containing protein 1 1067 115.5 10 Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 1 1 5 2004-12-07 Q9UQQ1 NALDL_HUMAN NAALADL1 Aminopeptidase NAALADL1 740 80.6 11 3.4.11.- Apical cell membrane 1 0 1 1 5 2002-02-11 Q9Y224 RTRAF_HUMAN RTRAF tRNA-splicing ligase complex subunit RTRAF 244 28.1 14 Nucleus; Cytoplasm 0 0 1 1 5 2002-04-03 Q9Y235 ABEC2_HUMAN APOBEC2 C->U-editing enzyme APOBEC-2 224 25.7 6 3.5.4.36 0 0 1 1 5 2002-09-19 Q9Y2I7 FYV1_HUMAN PIKFYVE 1-phosphatidylinositol 3-phosphate 5-kinase 2098 237.1 2 2.7.1.150 Endosome membrane; Early endosome membrane; Cytoplasmic vesicle; Late endosome membrane 0 1 Corneal dystrophy, fleck 1 1 5 2000-12-01 Q9Y3P9 RBGP1_HUMAN RABGAP1 Rab GTPase-activating protein 1 1069 121.7 9 Cytoplasm 0 0 1 1 5 2007-08-21 Q9Y3R0 GRIP1_HUMAN GRIP1 Glutamate receptor-interacting protein 1 1128 122.4 12 Cytoplasmic vesicle; Perikaryon; Cell projection; Cytoplasm; Endomembrane system; Postsynaptic cell membrane; Postsynaptic density; Endoplasmic reticulum membrane 0 1 Fraser syndrome 3 1 1 5 2004-03-29 Q9Y466 NR2E1_HUMAN NR2E1 Nuclear receptor subfamily 2 group E member 1 385 42.6 6 Nucleus 0 0 1 1 5 2000-12-01 Q9Y4E5 ZN451_HUMAN ZNF451 E3 SUMO-protein ligase ZNF451 1061 121.5 6 2.3.2.- Nucleus 0 0 1 1 5 2003-10-24 Q9Y584 TIM22_HUMAN TIMM22 Mitochondrial import inner membrane translocase subunit Tim22 194 20 17 Mitochondrion inner membrane 3 1 Combined oxidative phosphorylation deficiency 43 1 1 5 2001-01-11 Q9Y5Q9 TF3C3_HUMAN GTF3C3 General transcription factor 3C polypeptide 3 886 101.3 2 Nucleus 0 1 Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures 1 1 5 2004-05-24 Q9Y5S1 TRPV2_HUMAN TRPV2 Transient receptor potential cation channel subfamily V member 2 764 86 17 Cell membrane; Cytoplasm; Melanosome 6 0 1 1 5 2005-04-26 Q9Y603 ETV7_HUMAN ETV7 Transcription factor ETV7 341 39 6 Nucleus 0 0 1 1 5 2001-02-21 Q9Y6B2 EID1_HUMAN EID1 EP300-interacting inhibitor of differentiation 1 187 20.9 15 Nucleus; Cytoplasm 0 0 1 1 5 2007-05-29 Q9Y6D0 SELK_HUMAN SELENOK Selenoprotein K 94 10.6 3 Endoplasmic reticulum membrane; Cell membrane 1 0 1 1 5 2000-05-30 Q9Y6J0 CABIN_HUMAN CABIN1 Calcineurin-binding protein cabin-1 2220 246.4 22 Nucleus 0 0 1 1 5 2000-05-30 A6NHC0 CAN8_HUMAN CAPN8 Calpain-8 703 79.1 1 3.4.22.53 Cytoplasm; Golgi apparatus 0 0 1 1 4 2008-09-02 E9PRG8 RSMC_HUMAN RSMC 28S rRNA/ribosome and sororin micro-cofactor 123 14.2 11 Nucleus 0 0 1 1 4 2015-03-04 O43763 TLX2_HUMAN TLX2 T-cell leukemia homeobox protein 2 284 30.3 2 Nucleus 0 0 1 1 4 1999-07-15 O95838 GLP2R_HUMAN GLP2R Glucagon-like peptide 2 receptor 553 63 17 Cell membrane 7 0 1 1 4 2001-01-11 P57730 CAR18_HUMAN CARD18 Caspase recruitment domain-containing protein 18 90 10.1 11 0 0 1 1 4 2001-01-11 Q5TFQ8 SIRBL_HUMAN SIRPB1 Signal-regulatory protein beta-1 isoform 3 398 43.4 20 Membrane 1 0 1 1 4 2008-09-02 Q5VTE0 EF1A3_HUMAN EEF1A1P5 Putative elongation factor 1-alpha-like 3 462 50.2 Cytoplasm 0 0 1 5 4 2008-06-10 Q86X10 RLGPB_HUMAN RALGAPB Ral GTPase-activating protein subunit beta 1494 166.8 20 0 0 1 1 4 2004-03-15 Q8N8R7 AL14E_HUMAN ARL14EP ARL14 effector protein 260 29.3 11 Cytoplasm 0 0 1 1 4 2006-10-03 Q8NBI3 DRAXI_HUMAN DRAXIN Draxin 349 38.7 1 Secreted 0 0 1 1 4 2007-01-23 Q8NC44 RETR2_HUMAN RETREG2 Reticulophagy regulator 2 543 57.8 2 Endoplasmic reticulum membrane 3 0 1 1 4 2005-07-05 Q8NG68 TTL_HUMAN TTL Tubulin--tyrosine ligase 377 43.2 2 6.3.2.25 0 0 1 1 4 2004-05-10 Q96KE9 BTBD6_HUMAN BTBD6 BTB/POZ domain-containing protein 6 538 58.8 14 Cytoplasm 0 0 1 1 4 2003-11-28 Q96MX6 DAA10_HUMAN DNAAF10 Dynein axonemal assembly factor 10 357 39.7 2 Dynein axonemal particle 0 0 1 1 4 2007-09-11 Q9BPZ2 SPI2B_HUMAN SPIN2B Spindlin-2B 258 29.2 X Nucleus 0 0 1 1 4 2002-10-10 Q9BWU0 NADAP_HUMAN SLC4A1AP Kanadaptin 742 82.9 2 Nucleus; Cytoplasm 0 0 1 1 4 2005-12-20 Q9GZT6 CC90B_HUMAN CCDC90B Coiled-coil domain-containing protein 90B, mitochondrial 254 29.5 11 Mitochondrion membrane 1 0 1 1 4 2007-07-24 Q9H3C7 GGNB2_HUMAN GGNBP2 Gametogenetin-binding protein 2 697 79.1 17 Cytoplasmic vesicle 0 0 1 1 4 2006-06-13 Q9NUV9 GIMA4_HUMAN GIMAP4 GTPase IMAP family member 4 329 37.5 7 Cytoplasm 0 0 1 1 4 2003-11-14 Q9UHR6 ZNHI2_HUMAN ZNHIT2 Zinc finger HIT domain-containing protein 2 403 42.9 11 0 0 1 1 4 2003-01-10 Q9UHV5 RPGFL_HUMAN RAPGEFL1 Rap guanine nucleotide exchange factor-like 1 662 73.3 17 0 0 1 1 4 2008-09-02 Q9UJJ7 RUSD1_HUMAN RPUSD1 Pseudouridylate synthase RPUSD1 312 34.8 16 5.4.99.- 0 0 1 1 4 2007-09-11 Q9Y5P1 O51B2_HUMAN OR51B2 Olfactory receptor 51B2 312 35.4 11 Cell membrane 7 0 1 1 4 2001-06-20 O75715 GPX5_HUMAN GPX5 Epididymal secretory glutathione peroxidase 221 25.2 6 1.11.1.9 Secreted 0 0 1 1 4 1999-07-15 P0DY56 IFNA1_HUMAN IFNA1 Interferon alpha-1 189 21.7 9 Secreted 0 0 1 1 4 2026-01-28 P84101 SERF2_HUMAN SERF2 Small EDRK-rich factor 2 59 6.9 15 0 0 1 1 4 2004-08-16 P86791 CCZ1_HUMAN CCZ1 Vacuolar fusion protein CCZ1 homolog 482 55.9 7 Lysosome membrane 0 0 1 1 4 2010-11-02 Q13304 GPR17_HUMAN GPR17 Uracil nucleotide/cysteinyl leukotriene receptor 367 41 2 Cell membrane 7 0 1 1 4 1997-11-01 Q5HYM0 ZC12B_HUMAN ZC3H12B Probable ribonuclease ZC3H12B 836 94.2 X 3.1.-.- 0 0 1 1 4 2006-10-31 Q5VUJ9 DRC8_HUMAN DRC8 Dynein regulatory complex protein 8 269 29.7 1 Cytoplasm 0 0 1 1 4 2006-10-17 Q6QEF8 CORO6_HUMAN CORO6 Coronin-6 472 52.8 17 0 0 1 1 4 2006-10-31 Q6TDP4 KLH17_HUMAN KLHL17 Kelch-like protein 17 642 69.9 1 Postsynaptic density; Synapse 0 0 1 1 4 2004-09-27 Q86SG5 S1A7A_HUMAN S100A7A Protein S100-A7A 101 11.3 1 Cytoplasm 0 0 1 1 4 2003-09-26 Q86TN4 TRPT1_HUMAN TRPT1 tRNA 2'-phosphotransferase 1 253 27.7 11 2.7.1.160 0 0 1 1 4 2007-01-23 Q86XW9 TXND6_HUMAN NME9 Thioredoxin domain-containing protein 6 330 36.9 3 Cytoplasm; Dynein axonemal particle 0 0 1 1 4 2004-05-24 Q8IUE1 TF2LX_HUMAN TGIF2LX Homeobox protein TGIF2LX 241 26.7 X Nucleus 0 0 1 1 4 2004-03-01 Q8IXY8 PPIL6_HUMAN PPIL6 Probable inactive peptidyl-prolyl cis-trans isomerase-like 6 311 35.2 6 0 0 1 1 4 2006-12-12 Q8IYS0 ASTRC_HUMAN GRAMD1C Protein Aster-C 662 76 3 Endoplasmic reticulum membrane; Cell membrane 1 0 1 1 4 2007-05-15 Q8TE69 EOLA1_HUMAN EOLA1 Protein EOLA1 158 17.9 X 0 0 1 1 4 2005-06-21 Q96HL8 SH3Y1_HUMAN SH3YL1 SH3 domain-containing YSC84-like protein 1 342 37.1 2 0 0 1 1 4 2008-06-10 Q96L94 SNX22_HUMAN SNX22 Sorting nexin-22 193 22.1 15 Cytoplasmic vesicle membrane 0 0 1 1 4 2002-03-27 Q96ME7 ZN512_HUMAN ZNF512 Zinc finger protein 512 567 64.7 2 Chromosome; Nucleus 0 0 1 1 4 2004-03-15 Q96S90 LYSM1_HUMAN LYSMD1 LysM and putative peptidoglycan-binding domain-containing protein 1 227 25 1 0 0 1 1 4 2006-09-05 Q9H446 RWDD1_HUMAN RWDD1 RWD domain-containing protein 1 243 27.9 6 Cytoplasm 0 0 1 1 4 2003-08-15 Q9NWC5 TM45A_HUMAN TMEM45A Transmembrane protein 45A 275 31.7 3 Membrane 5 0 1 1 4 2003-02-12 Q9NYN1 RASLC_HUMAN RASL12 Ras-like protein family member 12 266 29.7 15 3.6.5.2 0 0 1 1 4 2008-05-20 Q9NZQ0 DJC27_HUMAN DNAJC27 DnaJ homolog subfamily C member 27 273 30.9 2 Nucleus 0 0 1 1 4 2008-05-20 Q9Y3B1 PLD3B_HUMAN PRELID3B PRELI domain containing protein 3B 194 21.5 20 0 0 1 1 4 2002-12-06 O14545 TRAD1_HUMAN TRAFD1 TRAF-type zinc finger domain-containing protein 1 582 64.8 12 0 0 1 1 4 2007-02-20 O60234 GMFG_HUMAN GMFG Glia maturation factor gamma 142 16.8 19 0 0 1 1 4 2000-05-30 O95661 DIRA3_HUMAN DIRAS3 GTP-binding protein Di-Ras3 229 25.9 1 Cell membrane 0 0 1 1 4 2001-04-27 P01780 HV307_HUMAN IGHV3-7 Immunoglobulin heavy variable 3-7 117 12.9 14 Secreted; Cell membrane 0 0 1 1 4 1986-07-21 P04433 KV311_HUMAN IGKV3-11 Immunoglobulin kappa variable 3-11 115 12.6 2 Secreted; Cell membrane 0 0 1 1 4 1987-08-13 P0C1H6 H2BFM_HUMAN H2BW2 Histone H2B type F-M 154 17 X Nucleus; Chromosome 0 0 1 1 4 2006-07-11 P0CG29 GST2_HUMAN GSTT2 Glutathione S-transferase theta-2 244 27.5 2.5.1.18 Cytoplasm; Nucleus 0 0 1 1 4 2010-07-13 P0DOX3 IGD_HUMAN Immunoglobulin delta heavy chain 512 56.2 Secreted; Cell membrane 0 0 1 1 4 2017-03-15 P51911 CNN1_HUMAN CNN1 Calponin-1 297 33.2 19 0 0 1 1 4 1996-10-01 P58062 ISK7_HUMAN SPINK7 Serine protease inhibitor Kazal-type 7 85 9.2 5 Secreted 0 0 1 1 4 2001-05-04 Q12988 HSPB3_HUMAN HSPB3 Heat shock protein beta-3 150 17 5 Cytoplasm; Nucleus 0 1 Neuronopathy, distal hereditary motor, autosomal dominant 4 1 1 4 1999-07-15 Q5VV17 OTUD1_HUMAN OTUD1 OTU domain-containing protein 1 481 51.1 10 3.4.19.12 0 0 1 1 4 2007-01-09 Q6B0K9 HBM_HUMAN HBM Hemoglobin subunit mu 141 15.6 16 0 0 1 1 4 2007-04-03 Q86SH2 ZAR1_HUMAN ZAR1 Zygote arrest protein 1 424 45.9 4 Cytoplasm 0 0 1 1 4 2004-03-15 Q86XH1 DRC11_HUMAN DRC11 Dynein regulatory complex subunit 11 822 95.3 2 Cytoplasm 0 0 1 1 4 2007-04-03 Q86YV6 MYLK4_HUMAN MYLK4 Myosin light chain kinase family member 4 388 44.5 6 2.7.11.1 0 0 1 1 4 2006-11-28 Q8IW93 ARHGJ_HUMAN ARHGEF19 Rho guanine nucleotide exchange factor 19 802 89.2 1 0 0 1 1 4 2007-05-01 Q8IYK8 REM2_HUMAN REM2 GTP-binding protein REM 2 340 37.1 14 Cell membrane 0 0 1 1 4 2004-08-16 Q8NAT2 TDRD5_HUMAN TDRD5 Tudor domain-containing protein 5 981 109.7 1 Cytoplasm 0 0 1 1 4 2003-03-25 Q8NI32 LPD6B_HUMAN LYPD6B Ly6/PLAUR domain-containing protein 6B 183 20.7 2 Cell membrane 0 0 1 1 4 2008-02-26 Q96KC2 ARL5B_HUMAN ARL5B ADP-ribosylation factor-like protein 5B 179 20.4 10 0 0 1 1 4 2003-09-19 Q99811 PRRX2_HUMAN PRRX2 Paired mesoderm homeobox protein 2 253 27.1 9 Nucleus 0 0 1 1 4 1999-07-15 Q9BUK0 CHCH7_HUMAN CHCHD7 Coiled-coil-helix-coiled-coil-helix domain-containing protein 7 85 10.1 8 Mitochondrion intermembrane space 0 0 1 1 4 2005-04-12 Q9HCL0 PCD18_HUMAN PCDH18 Protocadherin-18 1135 126.1 4 Cell membrane 1 0 1 1 4 2004-01-16 Q9P104 DOK5_HUMAN DOK5 Docking protein 5 306 35.5 20 0 0 1 1 4 2002-12-06 Q9Y5B6 PAXB1_HUMAN PAXBP1 PAX3- and PAX7-binding protein 1 917 104.8 21 Nucleus 0 0 1 1 4 2000-05-30 Q9Y5M8 SRPRB_HUMAN SRPRB Signal recognition particle receptor subunit beta 271 29.7 3 Endoplasmic reticulum membrane 1 0 1 1 4 2000-12-01 O76038 SEGN_HUMAN SCGN Secretagogin 276 32 6 Cytoplasm; Secreted; Cytoplasmic vesicle 0 0 1 1 4 2001-04-27 P83859 OX26_HUMAN QRFP Orexigenic neuropeptide QRFP 136 14.9 9 Secreted 0 0 1 1 4 2004-07-19 Q13938 CAYP1_HUMAN CAPS Calcyphosin 275 30.2 19 Cytoplasm 0 0 1 1 4 1997-11-01 Q4G112 HSF5_HUMAN HSF5 Heat shock factor protein 5 596 65.3 17 Nucleus; Chromosome 0 0 1 1 4 2008-05-20 Q5JU00 DRC5_HUMAN DRC5 Dynein regulatory complex subunit 5 501 55.6 6 Cell projection; Cytoplasm 0 0 1 1 4 2008-04-08 Q5JUX0 SPIN3_HUMAN SPIN3 Spindlin-3 258 29.2 X 0 0 1 1 4 2006-10-31 Q5VTH9 DNAI4_HUMAN DNAI4 Dynein axonemal intermediate chain 4 848 94.6 1 Cytoplasm; Dynein axonemal particle 0 0 1 1 4 2006-11-28 Q7L8C5 SYT13_HUMAN SYT13 Synaptotagmin-13 426 46.9 11 Membrane 1 0 1 1 4 2005-11-22 Q8IWR0 Z3H7A_HUMAN ZC3H7A Zinc finger CCCH domain-containing protein 7A 971 110.5 16 Nucleus 0 0 1 1 4 2005-07-05 Q8NHQ8 RASF8_HUMAN RASSF8 Ras association domain-containing protein 8 419 48.3 12 0 0 1 1 4 2003-05-09 Q8NI99 ANGL6_HUMAN ANGPTL6 Angiopoietin-related protein 6 470 51.7 19 Secreted 0 0 1 1 4 2005-05-10 Q96A98 TIP39_HUMAN PTH2 Tuberoinfundibular peptide of 39 residues 100 11.2 19 Secreted 0 0 1 1 4 2006-02-07 Q96DC8 ECHD3_HUMAN ECHDC3 Enoyl-CoA hydratase domain-containing protein 3, mitochondrial 303 32.6 10 Mitochondrion 0 0 1 1 4 2008-05-20 Q9BSH5 HDHD3_HUMAN HDHD3 Haloacid dehalogenase-like hydrolase domain-containing protein 3 251 28 9 0 0 1 1 4 2007-05-15 Q9BTP6 ZBED2_HUMAN ZBED2 Zinc finger BED domain-containing protein 2 218 25.1 3 Nucleus 0 0 1 1 4 2003-09-19 Q9BW72 HIG2A_HUMAN HIGD2A HIG1 domain family member 2A, mitochondrial 106 11.5 5 Mitochondrion membrane; Mitochondrion inner membrane 2 0 1 1 4 2005-09-27 Q9HC56 PCDH9_HUMAN PCDH9 Protocadherin-9 1237 136.1 13 Cell membrane 1 0 1 1 4 2004-01-16 Q9NPB8 GPCP1_HUMAN GPCPD1 Glycerophosphocholine phosphodiesterase GPCPD1 672 76 20 3.1.4.2 Cytoplasm 0 0 1 1 4 2002-10-10 Q9NYS0 KBRS1_HUMAN NKIRAS1 NF-kappa-B inhibitor-interacting Ras-like protein 1 192 21.6 3 Cytoplasm 0 0 1 1 4 2006-03-07 Q9UQG0 POK11_HUMAN ERVK-11 Endogenous retrovirus group K member 11 Pol protein 969 109.7 0 0 1 1 4 2004-09-13 O95164 UBL3_HUMAN UBL3 Ubiquitin-like protein 3 117 13.2 13 Cell membrane 0 0 1 1 4 2004-09-13 P01824 HV439_HUMAN IGHV4-39 Immunoglobulin heavy variable 4-39 125 13.9 14 Secreted; Cell membrane 0 0 1 1 4 1986-07-21 P04437 TVA29_HUMAN TRAV29DV5 T cell receptor alpha variable 29/delta variable 5 119 13.4 14 Cell membrane 0 0 1 1 4 1987-08-13 P0CE72 ONCO_HUMAN OCM Oncomodulin-1 109 12.2 7 0 0 1 1 4 2010-03-23 P63135 POK7_HUMAN ERVK-7 Endogenous retrovirus group K member 7 Pol protein 1459 165.2 0 0 1 1 4 2004-09-13 Q13506 NAB1_HUMAN NAB1 NGFI-A-binding protein 1 487 54.4 2 Nucleus 0 0 1 1 4 2000-12-01 Q5GJ75 TP8L3_HUMAN TNFAIP8L3 Tumor necrosis factor alpha-induced protein 8-like protein 3 292 32.7 15 Cytoplasm; Cell membrane 0 0 1 1 4 2008-04-29 Q6NXR4 TTI2_HUMAN TTI2 TELO2-interacting protein 2 508 56.9 8 0 1 Intellectual developmental disorder, autosomal recessive 39 1 1 4 2007-03-06 Q6PI73 LIRA6_HUMAN LILRA6 Leukocyte immunoglobulin-like receptor subfamily A member 6 481 52.4 19 Membrane 1 0 1 1 4 2007-07-10 Q8TB52 FBX30_HUMAN FBXO30 F-box only protein 30 745 82.3 6 0 0 1 1 4 2004-03-15 Q8TF39 ZN483_HUMAN ZNF483 Zinc finger protein 483 744 85.1 9 Nucleus 0 0 1 1 4 2003-04-11 Q8WUH1 CHUR_HUMAN CHURC1 Protein Churchill 112 12.9 14 0 0 1 1 4 2003-05-30 Q96DY2 DRC10_HUMAN DRC10 Dynein regulatory complex subunit 10 449 52.4 12 Cytoplasm 0 0 1 1 4 2007-04-03 Q96PB8 LRC3B_HUMAN LRRC3B Leucine-rich repeat-containing protein 3B 259 29.3 3 Membrane 1 0 1 1 4 2002-10-19 Q9BW30 TPPP3_HUMAN TPPP3 Tubulin polymerization-promoting protein family member 3 176 19 16 Cytoplasm 0 0 1 1 4 2003-02-12 Q9H1Z9 TSN10_HUMAN TSPAN10 Tetraspanin-10 355 36.6 17 Cell membrane 4 0 1 1 4 2003-08-22 Q9HBU1 BARX1_HUMAN BARX1 Homeobox protein BarH-like 1 254 27.3 9 Nucleus 0 0 1 1 4 2001-06-01 Q9HCJ6 VAT1L_HUMAN VAT1L Putative NADPH-dependent quinone oxidoreductase VAT1L 419 45.9 16 1.6.5.5 0 0 1 1 4 2004-09-27 Q9NRG7 D39U1_HUMAN SDR39U1 Epimerase family protein SDR39U1 293 31.1 14 1.1.1.- 0 0 1 1 4 2007-03-06 Q9NWM3 CUED1_HUMAN CUEDC1 CUE domain-containing protein 1 386 42.3 17 0 0 1 1 4 2004-05-10 A0A0C4DH27 TRGV8_HUMAN TRGV8 T cell receptor gamma variable 8 118 13.3 7 Cell membrane 0 0 1 1 3 2019-01-16 O00398 P2Y10_HUMAN P2RY10 Putative P2Y purinoceptor 10 339 38.8 X Cell membrane 7 0 1 1 3 2002-05-27 P03986 TRGC2_HUMAN TRGC2 T cell receptor gamma constant 2 189 21.7 Cell membrane 1 0 1 1 3 1986-10-23 P52943 CRIP2_HUMAN CRIP2 Cysteine-rich protein 2 208 22.5 14 0 0 1 1 3 1996-10-01 Q3ZCT8 KBTBC_HUMAN KBTBD12 Kelch repeat and BTB domain-containing protein 12 623 71.1 3 0 0 1 1 3 2008-03-18 Q53SF7 COBL1_HUMAN COBLL1 Cordon-bleu protein-like 1 1128 123.9 2 0 0 1 1 3 2006-11-28 Q5U3C3 TM164_HUMAN TMEM164 Transmembrane protein 164 297 33.5 X Membrane 7 0 1 1 3 2006-10-31 Q8IZ02 LRC34_HUMAN LRRC34 Leucine-rich repeat-containing protein 34 464 51.3 3 Nucleus; Cytoplasm 0 0 1 1 3 2006-03-21 Q8IZP6 R113B_HUMAN RNF113B RING finger protein 113B 322 36.3 13 0 0 1 1 3 2003-08-15 Q9H0R4 HDHD2_HUMAN HDHD2 Haloacid dehalogenase-like hydrolase domain-containing protein 2 259 28.5 18 0 0 1 1 3 2007-05-15 Q9NXU5 ARL15_HUMAN ARL15 ADP-ribosylation factor-like protein 15 204 22.9 5 0 0 1 1 3 2007-04-03 Q9NXZ1 SAGE1_HUMAN SAGE1 Sarcoma antigen 1 904 99.2 X Nucleus 0 0 1 1 3 2007-05-15 Q9Y312 AAR2_HUMAN AAR2 Protein AAR2 homolog 384 43.5 20 0 0 1 1 3 2002-10-19 A6NLU0 RFPLA_HUMAN RFPL4A Ret finger protein-like 4A 287 32.2 19 Cytoplasm; Nucleus 0 0 1 1 3 2007-09-11 B9A064 IGLL5_HUMAN IGLL5 Immunoglobulin lambda-like polypeptide 5 214 23.1 22 Secreted 0 0 1 1 3 2011-03-08 P43366 MAGB1_HUMAN MAGEB1 Melanoma-associated antigen B1 347 39 X 0 0 1 1 3 1995-11-01 Q2M329 CF184_HUMAN CFAP184 Cilia- and flagella-associated protein 184 555 62.7 4 Cell projection; Cytoplasm 0 0 1 1 3 2006-05-02 Q6EKJ0 GTD2B_HUMAN GTF2IRD2B General transcription factor II-I repeat domain-containing protein 2B 949 107.2 7 Nucleus 0 0 1 1 3 2008-02-26 Q86V88 MGDP1_HUMAN MDP1 Magnesium-dependent phosphatase 1 176 20.1 14 3.1.3.-, 3.1.3.48 0 0 1 1 3 2005-10-25 Q9H9S4 CB39L_HUMAN CAB39L Calcium-binding protein 39-like 337 39.1 13 0 0 1 1 3 2001-08-14 Q9NSY2 STAR5_HUMAN STARD5 StAR-related lipid transfer protein 5 213 23.8 15 0 0 1 1 3 2002-11-15 A0A0B4J1U3 LV136_HUMAN IGLV1-36 Immunoglobulin lambda variable 1-36 117 12.5 22 Secreted; Cell membrane 0 0 1 1 3 2017-01-18 A0A0B4J1U6 TVB9_HUMAN TRBV9 T cell receptor beta variable 9 114 12.6 7 Cell membrane 0 0 1 1 3 2018-04-25 A0A0B4J276 TVA25_HUMAN TRAV25 T cell receptor alpha variable 25 109 12.4 14 Cell membrane 0 0 1 1 3 2018-02-28 A0A5B0 TVB14_HUMAN TRBV14 T cell receptor beta variable 14 115 12.9 7 Cell membrane 0 0 1 1 3 2018-05-23 P0C025 NUD17_HUMAN NUDT17 m7GpppN-mRNA hydrolase NUDT17 328 35.9 1 3.6.1.62 0 0 1 1 3 2005-07-05 P16562 CRIS2_HUMAN CRISP2 Cysteine-rich secretory protein 2 243 27.3 6 Secreted 0 0 1 1 3 1990-08-01 P57060 RWD2B_HUMAN RWDD2B RWD domain-containing protein 2B 319 36.3 21 0 0 1 1 3 2000-12-01 Q309B1 TR16L_HUMAN TRIM16L Tripartite motif-containing protein 16-like protein 348 40.3 17 Cytoplasm 0 0 1 1 3 2007-03-06 Q6MZZ7 CAN13_HUMAN CAPN13 Calpain-13 669 76.7 2 3.4.22.- 0 0 1 1 3 2006-10-31 Q6UWN8 ISK6_HUMAN SPINK6 Serine protease inhibitor Kazal-type 6 80 8.6 5 Secreted 0 0 1 1 3 2005-02-01 Q7Z6K4 NRARP_HUMAN NRARP Notch-regulated ankyrin repeat-containing protein 114 12.5 9 0 0 1 1 3 2008-03-18 Q86VU5 CMTD1_HUMAN COMTD1 Catechol O-methyltransferase domain-containing protein 1 262 28.8 10 2.1.1.- Membrane 1 0 1 1 3 2006-05-02 Q8N6N7 ACBD7_HUMAN ACBD7 Acyl-CoA-binding domain-containing protein 7 88 9.8 10 0 0 1 1 3 2006-07-25 Q8NEG5 ZSWM2_HUMAN ZSWIM2 E3 ubiquitin-protein ligase ZSWIM2 633 72.7 2 2.3.2.27 0 0 1 1 3 2004-01-16 Q969E1 LEAP2_HUMAN LEAP2 Liver-expressed antimicrobial peptide 2 77 8.8 5 Secreted 0 0 1 1 3 2002-03-05 Q96IM9 DYDC2_HUMAN DYDC2 DPY30 domain-containing protein 2 177 20.6 10 0 0 1 1 3 2006-07-25 Q9BSY4 CHCH5_HUMAN CHCHD5 Coiled-coil-helix-coiled-coil-helix domain-containing protein 5 110 12.4 2 Mitochondrion intermembrane space 0 0 1 1 3 2005-04-12 Q9NVM6 DJC17_HUMAN DNAJC17 DnaJ homolog subfamily C member 17 304 34.7 15 Cytoplasm; Nucleus 0 0 1 1 3 2006-07-25 Q9P1F3 ABRAL_HUMAN ABRACL Costars family protein ABRACL 81 9.1 6 Cell projection 0 0 1 1 3 2003-11-07 A0A0B4J1V1 HV321_HUMAN IGHV3-21 Immunoglobulin heavy variable 3-21 117 12.8 14 Secreted; Cell membrane 0 0 1 1 3 2016-11-30 A0A0B4J240 TVA10_HUMAN TRAV10 T cell receptor alpha variable 10 114 12.9 14 Cell membrane 0 0 1 1 3 2018-02-28 Q2M296 MTHSD_HUMAN MTHFSD Methenyltetrahydrofolate synthase domain-containing protein 383 42.2 16 0 0 1 1 3 2007-07-24 Q6ZWB6 KCTD8_HUMAN KCTD8 BTB/POZ domain-containing protein KCTD8 473 52.4 4 Presynaptic cell membrane; Postsynaptic cell membrane 0 0 1 1 3 2006-10-03 Q86V35 CABP7_HUMAN CABP7 Calcium-binding protein 7 215 24.5 22 Golgi apparatus; Cytoplasm; Cell membrane 1 0 1 1 3 2003-10-03 Q8TF61 FBX41_HUMAN FBXO41 F-box only protein 41 875 94.5 2 Cytoplasm 0 0 1 1 3 2004-08-31 Q96BM0 I27L1_HUMAN IFI27L1 Interferon alpha-inducible protein 27-like protein 1 104 9.5 14 Membrane 3 0 1 1 3 2003-01-17 Q9H6Y5 MAGIX_HUMAN MAGIX PDZ domain-containing protein MAGIX 334 35.3 X 0 0 1 1 3 2007-11-13 Q9H8U3 ZFAN3_HUMAN ZFAND3 AN1-type zinc finger protein 3 227 25.2 6 0 0 1 1 3 2006-02-07 Q9H9L3 I20L2_HUMAN ISG20L2 Interferon-stimulated 20 kDa exonuclease-like 2 353 39.2 1 3.1.-.- Nucleus 0 0 1 1 3 2004-02-16 Q9HCJ3 RAVR2_HUMAN RAVER2 Ribonucleoprotein PTB-binding 2 691 74.3 1 Nucleus; Cytoplasm 0 0 1 1 3 2005-05-10 Q9NXN4 GDAP2_HUMAN GDAP2 Ganglioside-induced differentiation-associated protein 2 497 56.2 1 0 1 Spinocerebellar ataxia, autosomal recessive, 27 1 1 3 2008-04-29 Q9NYT0 PLEK2_HUMAN PLEK2 Pleckstrin-2 353 40 14 Cell projection; Cytoplasm 0 0 1 1 3 2002-05-10 A0A584 TVBK2_HUMAN TRBV11-2 T cell receptor beta variable 11-2 115 12.7 7 Cell membrane 0 0 1 1 3 2018-04-25 B1AKI9 ISM1_HUMAN ISM1 Isthmin-1 464 52.1 20 Secreted 0 0 1 1 3 2008-09-02 O75391 SPAG7_HUMAN SPAG7 Sperm-associated antigen 7 227 26 17 Nucleus 0 0 1 1 3 2005-03-29 P86790 CCZ1B_HUMAN CCZ1B Vacuolar fusion protein CCZ1 homolog B 482 55.9 7 Lysosome membrane 0 0 1 1 3 2010-11-02 Q15434 RBMS2_HUMAN RBMS2 RNA-binding motif, single-stranded-interacting protein 2 407 44 12 Nucleus 0 0 1 1 3 2004-11-23 Q3KQV9 UAP1L_HUMAN UAP1L1 UDP-N-acetylhexosamine pyrophosphorylase-like protein 1 507 57 9 2.7.7.- 0 0 1 1 3 2008-03-18 Q6P9G0 CB5D1_HUMAN CYB5D1 Cytochrome b5 domain-containing protein 1 228 26.7 17 Cytoplasm 0 0 1 1 3 2007-12-04 Q6ZTA4 TRI67_HUMAN TRIM67 Tripartite motif-containing protein 67 783 83.8 1 Cytoplasm 0 0 1 1 3 2006-10-31 Q8N3R3 TCAIM_HUMAN TCAIM T-cell activation inhibitor, mitochondrial 496 57.9 3 Mitochondrion 0 0 1 1 3 2006-05-16 Q8N4E4 PDCL2_HUMAN PDCL2 Phosducin-like protein 2 241 28.1 4 Endoplasmic reticulum 0 0 1 1 3 2006-07-25 Q9BXX3 AN30A_HUMAN ANKRD30A Ankyrin repeat domain-containing protein 30A 1397 158.8 10 0 0 1 1 3 2006-06-27 Q9UDX4 S14L3_HUMAN SEC14L3 SEC14-like protein 3 400 46 22 0 0 1 1 3 2003-03-28 Q9Y6F7 CDY2_HUMAN CDY2A Testis-specific chromodomain protein Y 2 541 60.5 Y 2.3.1.48 Nucleus 0 0 1 1 3 2002-01-23 P59095 STAR6_HUMAN STARD6 StAR-related lipid transfer protein 6 220 25 18 0 0 1 1 2 2002-11-15 Q8NCJ5 SPRY3_HUMAN SPRYD3 SPRY domain-containing protein 3 442 49.7 12 0 0 1 1 2 2006-06-27 Q8WWF6 DNJB3_HUMAN DNAJB3 DnaJ homolog subfamily B member 3 145 16.6 0 0 1 1 2 2009-10-13 A0A0B4J200 TJB23_HUMAN TRBJ2-3 T cell receptor beta joining 2-3 16 1.8 7 Cell membrane 0 0 1 1 2 2019-06-05 A6NK44 GLOD5_HUMAN GLOD5 Glyoxalase domain-containing protein 5 160 18.3 X 0 0 1 1 2 2007-10-02 P0CJ85 DU4L2_HUMAN DUX4L2 Double homeobox protein 4-like protein 2 424 44.9 Nucleus 0 0 1 1 2 2011-03-08 Q8IYN6 UBAD2_HUMAN UBALD2 UBA-like domain-containing protein 2 164 17.9 17 0 0 1 1 2 2006-05-30 Q96I45 TM141_HUMAN TMEM141 Transmembrane protein 141 108 11.9 9 Membrane 2 0 1 1 2 2007-03-06 Q9UJC5 SH3L2_HUMAN SH3BGRL2 SH3 domain-binding glutamic acid-rich-like protein 2 107 12.3 6 Nucleus 0 0 1 1 2 2001-01-11 Q6UWW0 LCN15_HUMAN LCN15 Lipocalin-15 184 20.5 9 Secreted 0 0 1 1 2 2008-02-05 Q9UIY3 RWD2A_HUMAN RWDD2A RWD domain-containing protein 2A 292 33.9 6 0 0 1 1 2 2000-12-01 P0C671 BNIP5_HUMAN BNIP5 Protein BNIP5 652 71.9 6 0 0 1 1 2 2008-02-05 Q9P298 HIG1B_HUMAN HIGD1B HIG1 domain family member 1B 99 11.1 17 Membrane 2 0 1 1 2 2005-09-27 A6NEQ2 F181B_HUMAN FAM181B Protein FAM181B 426 42.7 11 0 0 1 1 2 2008-03-18 A6NFT4 CFA73_HUMAN CFAP73 Cilia- and flagella-associated protein 73 308 35.9 12 Cytoplasm 0 0 1 1 2 2008-07-22 Q9H0W7 THAP2_HUMAN THAP2 THAP domain-containing protein 2 228 26.3 12 0 0 1 1 2 2003-04-11 A0A0C5B5G6 MOTSC_HUMAN MT-RNR1 Mitochondrial-derived peptide MOTS-c 16 2.2 MT Secreted; Mitochondrion; Nucleus 0 0 0 1 5 2016-04-13 A0A1B0GTW7 CIROP_HUMAN CIROP Ciliated left-right organizer metallopeptidase 788 85.4 14 3.4.24.- Membrane 1 1 Heterotaxy, visceral, 12, autosomal 0 1 5 2018-09-12 A0JNW5 BLT3B_HUMAN BLTP3B Bridge-like lipid transfer protein family member 3B 1464 164.2 12 Cytoplasm; Early endosome 0 0 0 1 5 2007-07-24 A0JP26 POTB3_HUMAN POTEB3 POTE ankyrin domain family member B3 581 65.7 15 0 0 0 1 5 2015-03-04 A0PK11 CLRN2_HUMAN CLRN2 Clarin-2 232 25.4 4 Cell projection 4 1 Deafness, autosomal recessive, 117 0 1 5 2007-02-06 A1A519 F170A_HUMAN FAM170A Protein FAM170A 330 37.2 5 Nucleus 0 0 0 1 5 2008-03-18 A1X283 SPD2B_HUMAN SH3PXD2B SH3 and PX domain-containing protein 2B 911 101.6 5 Cytoplasm; Cell projection 0 1 Frank-Ter Haar syndrome 0 1 5 2007-12-04 A2A2Y4 FRMD3_HUMAN FRMD3 FERM domain-containing protein 3 597 68.8 9 Membrane 1 0 0 1 5 2008-02-05 A2RU14 TM218_HUMAN TMEM218 Transmembrane protein 218 115 12.5 11 Membrane; Cell projection 3 1 Joubert syndrome 39 0 1 5 2008-02-26 A2RUB6 CCD66_HUMAN CCDC66 Coiled-coil domain-containing protein 66 948 109.4 3 Cytoplasm; Cell projection; Photoreceptor inner segment; Midbody 0 0 0 1 5 2008-02-26 A4D1B5 GSAP_HUMAN GSAP Gamma-secretase-activating protein 854 97.8 7 Golgi apparatus 0 0 0 1 5 2008-05-20 A5PLL7 PEDS1_HUMAN PEDS1 Plasmanylethanolamine desaturase 1 270 31.1 20 1.14.19.77 Endoplasmic reticulum membrane 3 0 0 1 5 2008-02-26 A6BM72 MEG11_HUMAN MEGF11 Multiple epidermal growth factor-like domains protein 11 1044 110.8 15 Cell membrane; Basolateral cell membrane 1 0 0 1 5 2007-11-13 A6NCS4 NKX26_HUMAN NKX2-6 Homeobox protein Nkx-2.6 301 32.1 8 Nucleus 0 1 Conotruncal heart malformations 0 1 5 2007-09-11 A6NER3 GG12J_HUMAN GAGE12J G antigen 12J 117 12.9 X 0 0 0 1 5 2008-06-10 A6NFY7 SDHF1_HUMAN SDHAF1 Succinate dehydrogenase assembly factor 1, mitochondrial 115 12.8 19 Mitochondrion matrix 0 1 Mitochondrial complex II deficiency, nuclear type 2 0 1 5 2008-04-08 A6NI61 MYMK_HUMAN MYMK Protein myomaker 221 24.7 9 Cell membrane; Golgi apparatus membrane 7 1 Carey-Fineman-Ziter syndrome 1 0 1 5 2008-02-26 A6NKB5 PCX2_HUMAN PCNX2 Pecanex-like protein 2 2137 237.3 1 Membrane 15 0 0 1 5 2008-05-20 A6NNB3 IFM5_HUMAN IFITM5 Interferon-induced transmembrane protein 5 132 14.4 11 Cell membrane 2 1 Osteogenesis imperfecta 5 0 1 5 2007-10-02 A6QL63 ABTB3_HUMAN ABTB3 Ankyrin repeat- and BTB/POZ domain-containing protein 3 1104 120.9 12 Membrane 1 0 0 1 5 2008-04-08 A7E2V4 ZSWM8_HUMAN ZSWIM8 Zinc finger SWIM domain-containing protein 8 1837 197.3 10 Cytoplasm 0 0 0 1 5 2007-12-04 A7MCY6 TBKB1_HUMAN TBKBP1 TANK-binding kinase 1-binding protein 1 615 67.7 17 0 0 0 1 5 2008-03-18 A7MD48 SRRM4_HUMAN SRRM4 Serine/arginine repetitive matrix protein 4 611 68.6 12 Nucleus 0 0 0 1 5 2007-12-04 A8MQ03 CRTP1_HUMAN CYSRT1 Cysteine-rich tail protein 1 144 15.3 9 Cornified envelope 0 0 0 1 5 2008-04-29 A8MW99 MEI4_HUMAN MEI4 Meiosis-specific protein MEI4 385 44 6 Chromosome 0 0 0 1 5 2008-07-22 A9UHW6 MI4GD_HUMAN MIF4GD MIF4G domain-containing protein 222 25.4 17 Cytoplasm; Nucleus 0 0 0 1 5 2008-05-20 B1AK53 ESPN_HUMAN ESPN Espin 854 91.7 1 Cytoplasm; Cell projection 0 3 Deafness, autosomal recessive, 36, with or without vestibular involvement; Deafness, autosomal dominant, 91; Usher syndrome 1M 0 1 5 2008-05-20 B2RUY7 VWC2L_HUMAN VWC2L von Willebrand factor C domain-containing protein 2-like 222 24.6 2 Secreted; Synapse 0 0 0 1 5 2008-09-02 B3KU38 IQIP1_HUMAN IQCJ-SCHIP1 IQCJ-SCHIP1 readthrough transcript protein 563 62.2 3 Cell projection; Cytoplasm 0 0 0 1 5 2017-11-22 B6A8C7 TARM1_HUMAN TARM1 T-cell-interacting, activating receptor on myeloid cells protein 1 271 29.5 19 Cell membrane 1 0 0 1 5 2010-05-18 B7U540 KCJ18_HUMAN KCNJ18 Inward rectifier potassium channel 18 433 48.9 17 Cell membrane; Endoplasmic reticulum 2 1 Thyrotoxic periodic paralysis 2 0 1 5 2010-07-13 C9JLW8 MCRI1_HUMAN MCRIP1 Mapk-regulated corepressor-interacting protein 1 97 10.9 17 Nucleus; Cytoplasm 0 0 0 1 5 2010-05-18 C9JRZ8 AK1BF_HUMAN AKR1B15 Aldo-keto reductase family 1 member B15 316 36.5 7 1.1.1.-, 1.1.1.300, 1.1.1.54 Mitochondrion 0 0 0 1 5 2010-07-13 E0CX11 STMP1_HUMAN STMP1 Short transmembrane mitochondrial protein 1 47 5.3 7 Mitochondrion inner membrane; Mitochondrion outer membrane; Mitochondrion intermembrane space 1 0 0 1 5 2011-10-19 O00115 DNS2A_HUMAN DNASE2 Deoxyribonuclease-2-alpha 360 39.6 19 3.1.22.1 Lysosome 0 1 Autoinflammatory-pancytopenia syndrome 0 1 5 1998-07-15 O00116 ADAS_HUMAN AGPS Alkyldihydroxyacetonephosphate synthase, peroxisomal 658 72.9 2 2.5.1.26 Peroxisome membrane; Peroxisome 0 1 Rhizomelic chondrodysplasia punctata 3 0 1 5 1997-11-01 O00165 HAX1_HUMAN HAX1 HCLS1-associated protein X-1 279 31.6 1 Mitochondrion matrix; Endoplasmic reticulum; Nucleus membrane; Cytoplasmic vesicle; Cytoplasm; Cell membrane; Sarcoplasmic reticulum 0 1 Neutropenia, severe congenital 3, autosomal recessive 0 1 5 1998-07-15 O00237 RN103_HUMAN RNF103 E3 ubiquitin-protein ligase RNF103 685 79.4 2 2.3.2.27 Endoplasmic reticulum membrane 4 0 0 1 5 2004-08-31 O00254 PAR3_HUMAN F2RL2 Proteinase-activated receptor 3 374 42.5 5 Cell membrane 7 0 0 1 5 1998-07-15 O00322 UPK1A_HUMAN UPK1A Uroplakin-1a 258 28.9 19 Membrane 4 0 0 1 5 1997-11-01 O00337 S28A1_HUMAN SLC28A1 Sodium/nucleoside cotransporter 1 649 71.6 15 Cell membrane; Apical cell membrane 13 1 Uridine-cytidineuria 0 1 5 2000-12-01 O00453 LST1_HUMAN LST1 Leukocyte-specific transcript 1 protein 97 10.8 6 Membrane; Golgi apparatus membrane; Endomembrane system 1 0 0 1 5 2003-08-22 O00462 MANBA_HUMAN MANBA Beta-mannosidase 879 100.9 4 3.2.1.25 Lysosome 0 1 Mannosidosis, beta A, lysosomal 0 1 5 1998-07-15 O00505 IMA4_HUMAN KPNA3 Importin subunit alpha-4 521 57.8 13 Cytoplasm; Nucleus 0 1 Spastic paraplegia 88, autosomal dominant 0 1 5 1997-11-01 O00507 USP9Y_HUMAN USP9Y Ubiquitin carboxyl-terminal hydrolase 9Y 2555 291.1 Y 3.4.19.12 0 1 Spermatogenic failure Y-linked 2 0 1 5 1997-11-01 O00635 TRI38_HUMAN TRIM38 E3 ubiquitin-protein ligase TRIM38 465 53.4 6 2.3.2.27 Cytoplasm 0 0 0 1 5 2002-06-06 O00748 EST2_HUMAN CES2 Cocaine esterase 559 61.8 16 3.1.1.84 Endoplasmic reticulum lumen 0 0 0 1 5 2004-04-26 O14503 BHE40_HUMAN BHLHE40 Class E basic helix-loop-helix protein 40 412 45.5 3 Cytoplasm; Nucleus 0 0 0 1 5 2002-03-05 O14524 NEMP1_HUMAN NEMP1 Nuclear envelope integral membrane protein 1 444 50.6 12 Nucleus inner membrane; Nucleus envelope 5 0 0 1 5 1998-07-15 O14548 CO72L_HUMAN COX7A2L Cytochrome c oxidase subunit 7A2-like, mitochondrial 114 12.6 2 Mitochondrion inner membrane 1 0 0 1 5 2000-12-01 O14613 BORG1_HUMAN CDC42EP2 Cdc42 effector protein 2 210 22.5 11 Endomembrane system; Cytoplasm 0 0 0 1 5 2005-07-19 O14628 ZN195_HUMAN ZNF195 Zinc finger protein 195 629 72.3 11 Nucleus 0 0 0 1 5 1998-07-15 O14654 IRS4_HUMAN IRS4 Insulin receptor substrate 4 1257 133.8 X Cell membrane 0 1 Hypothyroidism, congenital, non-goitrous, 9 0 1 5 2008-01-15 O14657 TOR1B_HUMAN TOR1B Torsin-1B 336 38 9 Endoplasmic reticulum lumen; Nucleus membrane 0 0 0 1 5 2001-04-27 O14756 H17B6_HUMAN HSD17B6 17-beta-hydroxysteroid dehydrogenase type 6 317 36 12 1.1.1.105, 1.1.1.209, 1.1.1.239, 1.1.1.53, 1.1.1.62 Microsome membrane; Early endosome membrane 0 0 0 1 5 2007-09-11 O14804 TAAR5_HUMAN TAAR5 Trace amine-associated receptor 5 337 38.2 6 Cell membrane 7 0 0 2 5 2005-11-22 O14813 PHX2A_HUMAN PHOX2A Paired mesoderm homeobox protein 2A 284 29.7 11 Nucleus 0 1 Fibrosis of extraocular muscles, congenital, 2 0 1 5 2000-05-30 O14908 GIPC1_HUMAN GIPC1 PDZ domain-containing protein GIPC1 333 36 19 Cytoplasm; Membrane 0 1 Oculopharyngodistal myopathy 2 0 1 5 2001-10-18 O14910 LIN7A_HUMAN LIN7A Protein lin-7 homolog A 233 26 12 Cell membrane; Basolateral cell membrane; Cell junction; Postsynaptic density membrane 0 0 0 1 5 2005-02-15 O14925 TIM23_HUMAN TIMM23 Mitochondrial import inner membrane translocase subunit Tim23 209 21.9 10 Mitochondrion inner membrane 3 0 0 1 5 2001-10-18 O14926 FSCN2_HUMAN FSCN2 Fascin-2 492 55.1 17 Cytoplasm; Cell projection 0 1 Retinitis pigmentosa 30 0 1 5 2001-09-26 O14967 CLGN_HUMAN CLGN Calmegin 610 70 4 Endoplasmic reticulum membrane 1 0 0 1 5 1998-07-15 O14975 S27A2_HUMAN SLC27A2 Long-chain fatty acid transport protein 2 620 70.3 15 Endoplasmic reticulum membrane; Peroxisome membrane; Cell membrane; Microsome 3 0 0 1 5 1998-07-15 O15067 PUR4_HUMAN PFAS Phosphoribosylformylglycinamidine synthase 1338 144.7 17 6.3.5.3 Cytoplasm 0 0 0 1 5 2001-01-11 O15078 CE290_HUMAN CEP290 Centrosomal protein of 290 kDa 2479 290.4 12 Cytoplasm; Nucleus; Cell projection; Cytoplasmic vesicle 0 5 Joubert syndrome 5; Senior-Loken syndrome 6; Leber congenital amaurosis 10; Meckel syndrome 4; Bardet-Biedl syndrome 14 0 1 5 2000-12-01 O15116 LSM1_HUMAN LSM1 U6 snRNA-associated Sm-like protein LSm1 133 15.2 8 Cytoplasm 0 1 FICUS syndrome 0 1 5 2002-04-16 O15120 PLCB_HUMAN AGPAT2 1-acyl-sn-glycerol-3-phosphate acyltransferase beta 278 30.9 9 2.3.1.51 Endoplasmic reticulum membrane 2 1 Lipodystrophy, congenital generalized, 1 0 1 5 1998-12-15 O15127 SCAM2_HUMAN SCAMP2 Secretory carrier-associated membrane protein 2 329 36.6 15 Golgi apparatus; Recycling endosome membrane 4 0 0 1 5 1998-12-15 O15156 ZBT7B_HUMAN ZBTB7B Zinc finger and BTB domain-containing protein 7B 539 58 1 Nucleus 0 0 0 1 5 2004-08-16 O15232 MATN3_HUMAN MATN3 Matrilin-3 486 52.8 2 Secreted 0 3 Multiple epiphyseal dysplasia 5; Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type; Osteoarthritis 2 0 1 5 2001-06-20 O15260 SURF4_HUMAN SURF4 Surfeit locus protein 4 269 30.4 9 Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus membrane 5 0 0 1 5 1999-07-15 O15266 SHOX_HUMAN SHOX Short stature homeobox protein 292 32.2 X Nucleus 0 3 Leri-Weill dyschondrosteosis; Langer mesomelic dysplasia; Short stature, idiopathic, X-linked 0 1 5 2000-05-30 O15370 SOX12_HUMAN SOX12 Transcription factor SOX-12 315 34.1 20 Nucleus 0 0 0 1 5 1998-07-15 O15400 STX7_HUMAN STX7 Syntaxin-7 261 29.8 6 Early endosome membrane 1 0 0 1 5 1998-07-15 O15551 CLD3_HUMAN CLDN3 Claudin-3 220 23.3 7 Cell junction; Cell membrane 4 0 0 1 5 2000-05-30 O42043 ENK18_HUMAN ERVK-18 Endogenous retrovirus group K member 18 Env polyprotein 560 63.7 Cell membrane 1 0 0 1 5 2004-05-24 O43155 FLRT2_HUMAN FLRT2 Leucine-rich repeat transmembrane protein FLRT2 660 74 14 Cell membrane; Endoplasmic reticulum membrane; Cell junction; Secreted; Microsome membrane; Synapse 1 0 0 1 5 2002-03-27 O43166 SI1L1_HUMAN SIPA1L1 Signal-induced proliferation-associated 1-like protein 1 1804 200 14 Cytoplasm; Postsynaptic density; Synapse 0 0 0 1 5 2004-07-19 O43196 MSH5_HUMAN MSH5 MutS protein homolog 5 834 92.9 6 0 2 Premature ovarian failure 13; Spermatogenic failure 74 0 1 5 1998-12-15 O43294 TGFI1_HUMAN TGFB1I1 Transforming growth factor beta-1-induced transcript 1 protein 461 49.8 16 Cell junction; Nucleus matrix; Cytoplasm 0 0 0 1 5 2007-06-26 O43310 CTIF_HUMAN CTIF CBP80/20-dependent translation initiation factor 598 67.6 18 Cytoplasm 0 0 0 1 5 2001-02-21 O43439 MTG8R_HUMAN CBFA2T2 Protein CBFA2T2 604 67.1 20 Nucleus 0 0 0 1 5 2003-08-29 O43529 CHSTA_HUMAN CHST10 Carbohydrate sulfotransferase 10 356 42.2 2 2.8.2.- Golgi apparatus membrane 1 0 0 1 5 2005-03-15 O43548 TGM5_HUMAN TGM5 Protein-glutamine gamma-glutamyltransferase 5 720 80.8 15 2.3.2.13 Cytoplasm 0 1 Peeling skin syndrome 2 0 1 5 1999-07-15 O43556 SGCE_HUMAN SGCE Epsilon-sarcoglycan 437 49.9 7 Cell membrane; Cytoplasm; Cell projection; Golgi apparatus 1 1 Dystonia 11, myoclonic 0 1 5 2001-04-27 O43593 HAIR_HUMAN HR Lysine-specific demethylase hairless 1189 127.5 8 1.14.11.65 Nucleus 0 3 Alopecia universalis congenita; Atrichia with papular lesions; Hypotrichosis 4 0 1 5 1999-07-15 O43609 SPY1_HUMAN SPRY1 Protein sprouty homolog 1 319 35.1 4 Cytoplasm; Membrane 0 0 0 1 5 2001-02-21 O43761 SNG3_HUMAN SYNGR3 Synaptogyrin-3 229 24.6 16 Cytoplasmic vesicle; Synapse 4 0 0 1 5 2000-05-30 O43808 PM34_HUMAN SLC25A17 Peroxisomal membrane protein PMP34 307 34.6 22 Cytoplasm; Peroxisome membrane 6 0 0 1 5 2001-01-24 O43823 AKAP8_HUMAN AKAP8 A-kinase anchor protein 8 692 76.1 19 Nucleus; Nucleus matrix; Cytoplasm 0 0 0 1 5 1999-07-15 O43825 B3GT2_HUMAN B3GALT2 Beta-1,3-galactosyltransferase 2 422 49.2 1 2.4.1.86 Golgi apparatus membrane 1 0 0 1 5 2005-03-15 O43827 ANGL7_HUMAN ANGPTL7 Angiopoietin-related protein 7 346 40 1 Secreted 0 0 0 1 5 2005-04-26 O43868 S28A2_HUMAN SLC28A2 Sodium/nucleoside cotransporter 2 658 71.9 15 Membrane; Apicolateral cell membrane 14 0 0 1 5 2000-12-01 O43903 GAS2_HUMAN GAS2 Growth arrest-specific protein 2 313 34.9 11 Cytoplasm; Membrane 0 1 Deafness, autosomal recessive, 125 0 1 5 1998-12-15 O60266 ADCY3_HUMAN ADCY3 Adenylate cyclase type 3 1144 129 2 4.6.1.1 Cell membrane; Cell projection; Cytoplasm; Golgi apparatus 12 1 Obesity 0 1 5 2001-04-27 O60393 NOBOX_HUMAN NOBOX Homeobox protein NOBOX 691 73.9 7 Nucleus 0 1 Premature ovarian failure 5 0 1 5 2006-12-12 O60519 CRBL2_HUMAN CREBL2 cAMP-responsive element-binding protein-like 2 120 13.8 12 Nucleus 0 0 0 1 5 2008-02-05 O60548 FOXD2_HUMAN FOXD2 Forkhead box protein D2 495 48.7 1 Nucleus 0 0 0 1 5 2000-05-30 O60635 TSN1_HUMAN TSPAN1 Tetraspanin-1 241 26.3 1 Cell membrane; Lysosome membrane 4 0 0 1 5 2000-12-01 O60636 TSN2_HUMAN TSPAN2 Tetraspanin-2 221 24.1 1 Membrane 4 0 0 1 5 2000-12-01 O60682 MUSC_HUMAN MSC Musculin 206 22.1 8 Nucleus 0 0 0 1 5 2001-08-14 O60687 SRPX2_HUMAN SRPX2 Sushi repeat-containing protein SRPX2 465 53 X Secreted; Cytoplasm; Cell surface; Synapse 0 1 Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked 0 1 5 2007-02-06 O60706 ABCC9_HUMAN ABCC9 ATP-binding cassette sub-family C member 9 1549 174.2 12 Membrane 15 4 Cardiomyopathy, dilated, 1O; Atrial fibrillation, familial, 12; Hypertrichotic osteochondrodysplasia; Intellectual disability and myopathy syndrome 0 1 5 2001-09-26 O60831 PRAF2_HUMAN PRAF2 PRA1 family protein 2 178 19.3 X Endosome membrane 4 0 0 1 5 2005-01-04 O60879 DIAP2_HUMAN DIAPH2 Protein diaphanous homolog 2 1101 125.6 X Cytoplasm; Early endosome 0 1 Premature ovarian failure 2A 0 1 5 1999-07-15 O60909 B4GT2_HUMAN B4GALT2 Beta-1,4-galactosyltransferase 2 372 42 1 2.4.1.- Golgi apparatus 1 0 0 1 5 2001-02-21 O60938 KERA_HUMAN KERA Keratocan 352 40.5 12 Secreted 0 1 Cornea plana 2, autosomal recessive 0 1 5 2002-02-11 O60941 DTNB_HUMAN DTNB Dystrobrevin beta 627 71.4 2 Cytoplasm; Postsynaptic density; Cell projection; Basal cell membrane; Postsynapse; Nucleus 0 0 0 1 5 2001-04-27 O75019 LIRA1_HUMAN LILRA1 Leukocyte immunoglobulin-like receptor subfamily A member 1 489 53.3 19 Membrane 1 0 0 1 5 2003-10-03 O75072 FKTN_HUMAN FKTN Ribitol-5-phosphate transferase FKTN 461 53.7 9 2.7.8.- Golgi apparatus membrane; Cytoplasm; Nucleus 1 4 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4; Muscular dystrophy-dystroglycanopathy congenital without impaired intellectual development B4; Muscular dystrophy-dystroglycanopathy limb-girdle C4; Cardiomyopathy, dilated, 1X 0 1 5 2001-02-21 O75077 ADA23_HUMAN ADAM23 Disintegrin and metalloproteinase domain-containing protein 23 832 91.9 2 Cell membrane 1 0 0 1 5 2004-12-07 O75132 ZBED4_HUMAN ZBED4 Zinc finger BED domain-containing protein 4 1171 130.3 22 Nucleus; Cytoplasm; Photoreceptor inner segment 0 0 0 1 5 2002-05-10 O75159 SOCS5_HUMAN SOCS5 Suppressor of cytokine signaling 5 536 61.2 2 0 0 0 1 5 2002-04-16 O75177 CREST_HUMAN SS18L1 Calcium-responsive transactivator 396 43 20 Nucleus; Chromosome 0 0 0 1 5 2002-01-31 O75309 CAD16_HUMAN CDH16 Cadherin-16 829 89.9 16 Cell membrane 1 0 0 1 5 2001-04-27 O75339 CILP1_HUMAN CILP Cartilage intermediate layer protein 1 1184 132.6 15 Secreted 0 1 Intervertebral disc disease 0 1 5 2005-07-05 O75379 VAMP4_HUMAN VAMP4 Vesicle-associated membrane protein 4 141 16.4 1 Cytoplasmic vesicle membrane 1 0 0 1 5 2001-02-21 O75443 TECTA_HUMAN TECTA Alpha-tectorin 2155 239.5 11 Cell membrane; Secreted 0 2 Deafness, autosomal dominant, 12; Deafness, autosomal recessive, 21 0 1 5 2004-06-07 O75558 STX11_HUMAN STX11 Syntaxin-11 287 33.2 6 Cell membrane; Late endosome membrane 0 1 Hemophagocytic lymphohistiocytosis, familial, 4 0 1 5 1999-07-15 O75564 JERKY_HUMAN JRK Jerky protein homolog 556 61.8 8 Nucleus 0 0 0 1 5 2003-01-17 O75610 LFTY1_HUMAN LEFTY1 Left-right determination factor 1 366 40.9 1 Secreted 0 0 0 1 5 2001-02-21 O75618 DEDD_HUMAN DEDD Death effector domain-containing protein 318 36.8 1 Cytoplasm; Nucleus 0 0 0 1 5 2002-07-11 O75638 CTAG2_HUMAN CTAG2 Cancer/testis antigen 2 210 21.1 X 0 0 0 1 5 2000-05-30 O75648 MTU1_HUMAN TRMU Mitochondrial tRNA-specific 2-thiouridylase 1 421 47.7 22 2.8.1.14 Mitochondrion 0 2 Deafness, aminoglycoside-induced; Liver failure, infantile, transient 0 1 5 2000-05-30 O75679 RFPL3_HUMAN RFPL3 Ret finger protein-like 3 317 35.4 22 Cytoplasm; Nucleus 0 0 0 1 5 2001-09-26 O75752 B3GL1_HUMAN B3GALNT1 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 331 39.5 3 2.4.1.79 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 O75781 PALM_HUMAN PALM Paralemmin-1 387 42.1 19 Cell membrane; Cell projection; Basolateral cell membrane; Apicolateral cell membrane 0 0 0 1 5 2002-08-30 O75864 PPR37_HUMAN PPP1R37 Protein phosphatase 1 regulatory subunit 37 691 74.8 19 0 0 0 1 5 2008-02-26 O75879 GATB_HUMAN GATB Glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial 557 61.9 4 6.3.5.7 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 41 0 1 5 2000-05-30 O75882 ATRN_HUMAN ATRN Attractin 1429 158.5 20 Cell membrane 1 0 0 1 5 2001-04-27 O75952 CABYR_HUMAN CABYR Calcium-binding tyrosine phosphorylation-regulated protein 493 52.8 18 Cytoplasm; Cell projection 0 0 0 1 5 2005-11-22 O75969 AKAP3_HUMAN AKAP3 A-kinase anchor protein 3 853 94.8 12 Cytoplasmic vesicle; Cell projection 0 1 Spermatogenic failure 82 0 1 5 2001-06-01 O76027 ANXA9_HUMAN ANXA9 Annexin A9 345 38.4 1 Lateral cell membrane 0 0 0 1 5 2001-02-21 O77932 DXO_HUMAN DXO Decapping and exoribonuclease protein 396 44.9 6 3.6.1.- Nucleus 0 0 0 1 5 2006-09-19 O94805 ACL6B_HUMAN ACTL6B Actin-like protein 6B 426 46.9 7 Nucleus 0 2 Developmental and epileptic encephalopathy 76; Intellectual developmental disorder with severe speech and ambulation defects 0 1 5 2002-09-19 O94808 GFPT2_HUMAN GFPT2 Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2 682 76.9 5 2.6.1.16 0 0 0 1 5 2000-05-30 O94810 RGS11_HUMAN RGS11 Regulator of G protein signaling 11 467 52.9 16 0 0 0 1 5 1999-07-15 O94818 NOL4_HUMAN NOL4 Nucleolar protein 4 638 71.4 18 Nucleus 0 0 0 1 5 2004-04-26 O94876 TMCC1_HUMAN TMCC1 Transmembrane and coiled-coil domains protein 1 653 72.1 3 Endoplasmic reticulum membrane 2 0 0 1 5 2001-07-11 O94889 KLH18_HUMAN KLHL18 Kelch-like protein 18 574 63.6 3 0 0 0 1 5 2001-04-27 O94898 LRIG2_HUMAN LRIG2 Leucine-rich repeats and immunoglobulin-like domains protein 2 1065 119 1 Cell membrane; Cytoplasm 1 1 Urofacial syndrome 2 0 1 5 2004-10-11 O94964 MTCL2_HUMAN MTCL2 Microtubule cross-linking factor 2 1661 183.9 20 Cytoplasm; Golgi apparatus membrane; Midbody 0 0 0 1 5 2002-11-25 O94983 CMTA2_HUMAN CAMTA2 Calmodulin-binding transcription activator 2 1202 131.5 17 Nucleus 0 0 0 1 5 2006-05-16 O94985 CSTN1_HUMAN CLSTN1 Calsyntenin-1 981 109.8 1 Postsynaptic cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell projection 1 0 0 1 5 2002-09-19 O95047 OR2A4_HUMAN OR2A4 Olfactory receptor 2A4 310 34.8 6 Cell membrane 7 0 0 2 5 2001-06-20 O95125 ZN202_HUMAN ZNF202 Zinc finger protein 202 648 74.7 11 Nucleus 0 0 0 1 5 1999-07-15 O95153 RIMB1_HUMAN TSPOAP1 Peripheral-type benzodiazepine receptor-associated protein 1 1857 200.1 17 Cytoplasm; Mitochondrion 0 2 Dystonia 22, adult-onset; Dystonia 22, juvenile-onset 0 1 5 2004-01-16 O95208 EPN2_HUMAN EPN2 Epsin-2 641 68.5 17 Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 2004-01-16 O95237 LRAT_HUMAN LRAT Lecithin retinol acyltransferase 230 25.7 4 2.3.1.135 Endoplasmic reticulum membrane; Rough endoplasmic reticulum; Endosome; Cytoplasm 1 1 Leber congenital amaurosis 14 0 1 5 2004-04-26 O95248 MTMR5_HUMAN SBF1 Myotubularin-related protein 5 1868 208.4 22 Cytoplasm; Cell projection 0 1 Charcot-Marie-Tooth disease, demyelinating, type 4B3 0 1 5 2000-12-01 O95294 RASL1_HUMAN RASAL1 RasGAP-activating-like protein 1 804 90 12 0 0 0 1 5 2001-05-04 O95343 SIX3_HUMAN SIX3 Homeobox protein SIX3 332 35.5 2 Nucleus 0 2 Holoprosencephaly 2; Schizencephaly 0 1 5 1999-07-15 O95352 ATG7_HUMAN ATG7 Ubiquitin-like modifier-activating enzyme ATG7 703 78 3 Cytoplasm; Preautophagosomal structure 0 1 Spinocerebellar ataxia, autosomal recessive, 31 0 1 5 2005-03-29 O95373 IPO7_HUMAN IPO7 Importin-7 1038 119.5 11 Cytoplasm; Nucleus 0 0 0 1 5 2004-03-15 O95394 AGM1_HUMAN PGM3 Phosphoacetylglucosamine mutase 542 59.9 6 5.4.2.3 0 1 Immunodeficiency 23 0 1 5 2001-01-24 O95415 BRI3_HUMAN BRI3 Membrane protein BRI3 125 13.6 7 Lysosome membrane 2 0 0 1 5 2000-05-30 O95427 PIGN_HUMAN PIGN GPI ethanolamine phosphate transferase 1 931 105.8 18 2.-.-.- Endoplasmic reticulum membrane 15 1 Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 1 5 2006-07-25 O95447 LCA5L_HUMAN LCA5L Lebercilin-like protein 670 76.5 21 0 0 0 1 5 2000-05-30 O95528 GTR10_HUMAN SLC2A10 Solute carrier family 2, facilitated glucose transporter member 10 541 56.9 20 Endomembrane system; Cytoplasm 12 1 Arterial tortuosity syndrome 0 1 5 2001-11-16 O95670 VATG2_HUMAN ATP6V1G2 V-type proton ATPase subunit G 2 118 13.6 6 Melanosome; Cytoplasmic vesicle 0 0 0 1 5 2000-05-30 O95674 CDS2_HUMAN CDS2 Phosphatidate cytidylyltransferase 2 445 51.4 20 2.7.7.41 Endoplasmic reticulum membrane 6 0 0 1 5 2000-05-30 O95741 CPNE6_HUMAN CPNE6 Copine-6 557 62 14 Cytoplasm; Cell membrane; Endosome; Cytoplasmic vesicle; Perikaryon; Cell projection 0 0 0 1 5 2000-12-01 O95758 PTBP3_HUMAN PTBP3 Polypyrimidine tract-binding protein 3 552 59.7 9 0 0 0 1 5 2004-07-19 O95782 AP2A1_HUMAN AP2A1 AP-2 complex subunit alpha-1 977 107.5 19 Cell membrane; Membrane 0 0 0 1 5 2001-01-24 O95807 TM50A_HUMAN TMEM50A Transmembrane protein 50A 157 17.4 1 Membrane 4 0 0 1 5 2000-05-30 O95886 DLGP3_HUMAN DLGAP3 Disks large-associated protein 3 979 106 1 Cell membrane; Postsynaptic density; Synapse 0 0 0 1 5 2001-09-26 O95905 ECD_HUMAN ECD Protein ecdysoneless homolog 644 72.8 10 Cytoplasm; Nucleus 0 0 0 1 5 2001-11-16 O95907 MOT3_HUMAN SLC16A8 Monocarboxylate transporter 3 504 52.3 22 Basolateral cell membrane 12 0 0 1 5 2001-04-27 O95990 F107A_HUMAN FAM107A Actin-associated protein FAM107A 144 17.5 3 Nucleus; Cytoplasm; Cell junction; Cell projection; Synapse 0 0 0 1 5 2000-05-30 O95996 APCL_HUMAN APC2 Adenomatous polyposis coli protein 2 2303 243.9 19 Cytoplasm; Golgi apparatus 0 2 Intellectual developmental disorder, autosomal recessive 74; Cortical dysplasia, complex, with other brain malformations 10 0 1 5 2008-01-15 O96004 HAND1_HUMAN HAND1 Heart- and neural crest derivatives-expressed protein 1 215 23.6 5 Nucleus 0 0 0 1 5 2000-12-01 O96005 CLPT1_HUMAN CLPTM1 Putative lipid scramblase CLPTM1 669 76.1 19 Membrane 5 0 0 1 5 2006-07-11 P01615 KVD28_HUMAN IGKV2D-28 Immunoglobulin kappa variable 2D-28 120 13 2 Secreted; Cell membrane 0 0 0 1 5 1986-07-21 P02812 PRB2_HUMAN PRB2 Basic salivary proline-rich protein 2 416 40.8 12 Secreted 0 0 0 1 5 1986-07-21 P04731 MT1A_HUMAN MT1A Metallothionein-1A 61 6.1 16 0 0 0 1 5 1987-08-13 P05204 HMGN2_HUMAN HMGN2 Non-histone chromosomal protein HMG-17 90 9.4 1 Nucleus; Cytoplasm 0 0 0 1 5 1987-08-13 P05813 CRBA1_HUMAN CRYBA1 Beta-crystallin A3 215 25.2 17 0 1 Cataract 10, multiple types 0 1 5 1988-11-01 P05814 CASB_HUMAN CSN2 Beta-casein 226 25.4 4 Secreted 0 0 0 1 5 1988-11-01 P05976 MYL1_HUMAN MYL1 Myosin light chain 1/3, skeletal muscle isoform 194 21.1 2 0 1 Congenital myopathy 14 0 1 5 1988-11-01 P05997 CO5A2_HUMAN COL5A2 Collagen alpha-2(V) chain 1499 144.9 2 Secreted 0 1 Ehlers-Danlos syndrome, classic type, 2 0 1 5 1988-04-01 P07197 NFM_HUMAN NEFM Neurofilament medium polypeptide 916 102.5 8 Cytoplasm; Cell projection; Perikaryon 0 0 0 1 5 1988-04-01 P07438 MT1B_HUMAN MT1B Metallothionein-1B 61 6.1 16 0 0 0 1 5 1988-04-01 P07510 ACHG_HUMAN CHRNG Acetylcholine receptor subunit gamma 517 57.9 2 Postsynaptic cell membrane; Cell membrane 4 2 Multiple pterygium syndrome, lethal type; Multiple pterygium syndrome, Escobar variant 0 1 5 1988-04-01 P09017 HXC4_HUMAN HOXC4 Homeobox protein Hox-C4 264 29.8 12 Nucleus 0 0 0 1 5 1988-11-01 P09544 WNT2_HUMAN WNT2 Protein Wnt-2 360 40.4 7 Secreted 0 0 0 1 5 1989-07-01 P09848 LPH_HUMAN LCT Lactase/phlorizin hydrolase 1927 218.6 2 Apical cell membrane 1 1 Congenital lactase deficiency 0 1 5 1989-07-01 P09912 IFI6_HUMAN IFI6 Interferon alpha-inducible protein 6 130 12.9 1 Endoplasmic reticulum membrane; Mitochondrion inner membrane 4 0 0 1 5 1989-07-01 P0CG20 PRR35_HUMAN PRR35 Proline-rich protein 35 571 59.4 16 0 0 0 1 5 2010-06-15 P0DI81 TPC2A_HUMAN TRAPPC2 Trafficking protein particle complex subunit 2 140 16.4 19 Cytoplasm; Endoplasmic reticulum-Golgi intermediate compartment; Nucleus 0 1 Spondyloepiphyseal dysplasia tarda 0 1 5 2011-09-21 P0DI82 TPC2B_HUMAN TRAPPC2B Trafficking protein particle complex subunit 2B 140 16.4 19 Nucleus; Cytoplasm; Endoplasmic reticulum-Golgi intermediate compartment 0 0 0 1 5 2011-09-21 P0DI83 NARR_HUMAN RAB34 Ras-related protein Rab-34, isoform NARR 198 21.1 17 Nucleus 0 0 0 1 5 2011-09-21 P0DPH7 TBA3C_HUMAN TUBA3C Tubulin alpha-3C chain 450 50 13 3.6.5.- Cytoplasm 0 0 0 1 5 2018-07-18 P0DPK4 NT2NC_HUMAN NOTCH2NLC Notch homolog 2 N-terminal-like protein C 293 31.5 1 Secreted 0 3 Neuronal intranuclear inclusion disease; Tremor, hereditary essential 6; Oculopharyngodistal myopathy 3 0 1 5 2018-09-12 P0DTE4 UD2A1_HUMAN UGT2A1 UDP-glucuronosyltransferase 2A1 527 60 4 2.4.1.17 Membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2020-08-12 P10523 ARRS_HUMAN SAG S-arrestin 405 45.1 2 Photoreceptor inner segment; Cell projection; Membrane 0 3 Night blindness, congenital stationary, Oguchi type 1; Retinitis pigmentosa 47; Retinitis pigmentosa 96 0 1 5 1989-07-01 P10620 MGST1_HUMAN MGST1 Microsomal glutathione S-transferase 1 155 17.6 12 2.5.1.18 Endoplasmic reticulum membrane; Mitochondrion outer membrane 4 0 0 1 5 1989-07-01 P10767 FGF6_HUMAN FGF6 Fibroblast growth factor 6 208 22.9 12 Secreted 0 0 0 1 5 1989-07-01 P10911 MCF2_HUMAN MCF2 Proto-oncogene DBL 925 107.7 X Cytoplasm 0 0 0 1 5 1989-07-01 P11055 MYH3_HUMAN MYH3 Myosin-3 1940 223.9 17 Cytoplasm 0 4 Arthrogryposis, distal, 2A; Arthrogryposis, distal, 2B3; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 0 1 5 1989-07-01 P11137 MTAP2_HUMAN MAP2 Microtubule-associated protein 2 1827 199.5 2 Cytoplasm; Cell projection 0 0 0 1 5 1989-07-01 P11464 PSG1_HUMAN PSG1 Pregnancy-specific beta-1-glycoprotein 1 419 47.2 19 Secreted 0 0 0 1 5 1989-10-01 P11801 KPSH1_HUMAN PSKH1 Serine/threonine-protein kinase H1 424 48 16 2.7.11.1 Golgi apparatus; Cytoplasm; Nucleus speckle; Endoplasmic reticulum membrane; Cell membrane 0 1 Cholestasis, progressive familial intrahepatic, 13 0 1 5 1989-10-01 P12035 K2C3_HUMAN KRT3 Keratin, type II cytoskeletal 3 628 64.4 12 0 1 Corneal dystrophy, Meesmann 2 0 1 5 1989-10-01 P12036 NFH_HUMAN NEFH Neurofilament heavy polypeptide 1020 111.8 22 Cytoplasm; Cell projection 0 2 Amyotrophic lateral sclerosis; Charcot-Marie-Tooth disease, axonal, type 2CC 0 1 5 1989-10-01 P13164 IFM1_HUMAN IFITM1 Interferon-induced transmembrane protein 1 125 14 11 Cell membrane; Lysosome membrane 1 0 0 1 5 1990-01-01 P13284 GILT_HUMAN IFI30 Gamma-interferon-inducible lysosomal thiol reductase 250 28 19 1.8.4.- Secreted; Lysosome 0 0 0 1 5 1990-01-01 P13378 HXD8_HUMAN HOXD8 Homeobox protein Hox-D8 290 31.9 2 Nucleus 0 0 0 1 5 1990-01-01 P13646 K1C13_HUMAN KRT13 Keratin, type I cytoskeletal 13 458 49.6 17 0 1 White sponge nevus 2 0 1 5 1990-01-01 P13994 YJU2B_HUMAN YJU2B Probable splicing factor YJU2B 396 44.8 19 Nucleus 0 0 0 1 5 1990-01-01 P14060 3BHS1_HUMAN HSD3B1 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1 373 42.3 1 Endoplasmic reticulum membrane; Mitochondrion membrane 1 0 0 1 5 1990-01-01 P14317 HCLS1_HUMAN HCLS1 Hematopoietic lineage cell-specific protein 486 54 3 Membrane; Cytoplasm; Mitochondrion 0 0 0 1 5 1990-01-01 P14652 HXB2_HUMAN HOXB2 Homeobox protein Hox-B2 356 37.9 17 Nucleus 0 0 0 1 5 1990-04-01 P15313 VATB1_HUMAN ATP6V1B1 V-type proton ATPase subunit B, kidney isoform 513 56.8 2 Apical cell membrane; Basolateral cell membrane 0 1 Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 0 1 5 1990-04-01 P16150 LEUK_HUMAN SPN Leukosialin 400 40.3 16 Membrane; Cell projection 1 0 0 1 5 1990-04-01 P16260 GDC_HUMAN SLC25A16 Mitochondrial coenzyme A transporter SLC25A16 332 36.2 10 Mitochondrion inner membrane 6 0 0 1 5 1990-08-01 P16383 GCFC2_HUMAN GCFC2 Intron Large complex component GCFC2 781 89.4 2 Nucleus 0 0 0 1 5 1990-08-01 P16389 KCNA2_HUMAN KCNA2 Potassium voltage-gated channel subfamily A member 2 499 56.7 1 Cell membrane; Membrane; Cell projection; Synapse; Endoplasmic reticulum membrane; Presynaptic cell membrane; Cell junction 6 2 Developmental and epileptic encephalopathy 32; Nizon-Isidor syndrome 0 1 5 1990-08-01 P16870 CBPE_HUMAN CPE Carboxypeptidase E 476 53.2 4 3.4.17.10 Cytoplasmic vesicle; Secreted 0 1 BDV syndrome 0 1 5 1990-08-01 P16989 YBOX3_HUMAN YBX3 Y-box-binding protein 3 372 40.1 12 Cytoplasm; Nucleus 0 0 0 1 5 1990-08-01 P17023 ZNF19_HUMAN ZNF19 Zinc finger protein 19 458 52.4 16 Nucleus 0 0 0 1 5 1990-08-01 P17040 ZSC20_HUMAN ZSCAN20 Zinc finger and SCAN domain-containing protein 20 1043 117.5 1 Nucleus 0 0 0 1 5 1990-08-01 P17509 HXB6_HUMAN HOXB6 Homeobox protein Hox-B6 224 25.4 17 Nucleus 0 0 0 1 5 1990-08-01 P19021 AMD_HUMAN PAM Peptidyl-glycine alpha-amidating monooxygenase 973 108.3 5 Cytoplasmic vesicle 1 0 0 1 5 1990-11-01 P19224 UD16_HUMAN UGT1A6 UDP-glucuronosyltransferase 1A6 532 60.8 2 2.4.1.17 Microsome; Endoplasmic reticulum membrane 1 0 0 1 5 1990-11-01 P20794 MAK_HUMAN MAK Serine/threonine-protein kinase MAK 623 70.6 6 2.7.11.1 Nucleus; Cytoplasm; Midbody; Cell projection; Photoreceptor inner segment 0 1 Retinitis pigmentosa 62 0 1 5 1991-02-01 P20851 C4BPB_HUMAN C4BPB C4b-binding protein beta chain 252 28.4 1 Secreted 0 0 0 1 5 1991-02-01 P21815 SIAL_HUMAN IBSP Integrin-binding sialoprotein 317 35.1 4 Secreted 0 0 0 1 5 1991-05-01 P22492 H1T_HUMAN H1-6 Histone H1t 207 22 6 Nucleus; Chromosome 0 0 0 1 5 1991-08-01 P22570 ADRO_HUMAN FDXR NADPH:adrenodoxin oxidoreductase, mitochondrial 491 53.8 17 1.18.1.6 Mitochondrion; Mitochondrion inner membrane 0 2 Auditory neuropathy and optic atrophy; Multiple mitochondrial dysfunctions syndrome 9B 0 1 5 1991-08-01 P22674 CCNO_HUMAN CCNO Cyclin-O 350 38.1 5 Cytoplasm; Nucleus 0 1 Ciliary dyskinesia, primary, 29 0 1 5 1991-08-01 P22732 GTR5_HUMAN SLC2A5 Solute carrier family 2, facilitated glucose transporter member 5 501 55 1 Apical cell membrane; Cell membrane 12 0 0 1 5 1991-08-01 P23409 MYF6_HUMAN MYF6 Myogenic factor 6 242 27 12 Nucleus 0 0 0 1 5 1991-11-01 P23786 CPT2_HUMAN CPT2 Carnitine O-palmitoyltransferase 2, mitochondrial 658 73.8 1 2.3.1.21 Mitochondrion inner membrane 0 4 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced; Carnitine palmitoyltransferase 2 deficiency, infantile; Carnitine palmitoyltransferase 2 deficiency, lethal neonatal; Encephalopathy, acute, infection-induced, 4 0 1 5 1991-11-01 P24278 ZBT25_HUMAN ZBTB25 Zinc finger and BTB domain-containing protein 25 435 49 14 Nucleus 0 0 0 1 5 1992-03-01 P25940 CO5A3_HUMAN COL5A3 Collagen alpha-3(V) chain 1745 172.1 19 Secreted 0 0 0 1 5 1992-05-01 P26439 3BHS2_HUMAN HSD3B2 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 372 42.1 1 Endoplasmic reticulum membrane; Mitochondrion membrane 1 1 Adrenal hyperplasia 2 0 1 5 1992-08-01 P27539 GDF1_HUMAN GDF1 Embryonic growth/differentiation factor 1 372 39.5 19 Secreted 0 4 Conotruncal heart malformations; Congenital heart defects, multiple types, 6; Tetralogy of Fallot; Right atrial isomerism 0 1 5 1992-08-01 P28360 MSX1_HUMAN MSX1 Homeobox protein MSX-1 303 31.5 4 Nucleus 0 3 Tooth agenesis, selective, 1; Ectodermal dysplasia 3, Witkop type; Non-syndromic orofacial cleft 5 0 1 5 1992-12-01 P28370 SMCA1_HUMAN SMARCA1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1 1042 121.1 X 3.6.4.- Nucleus; Chromosome 0 0 0 1 5 1992-12-01 P29966 MARCS_HUMAN MARCKS Myristoylated alanine-rich C-kinase substrate 332 31.6 6 Cell membrane; Cytoplasm 0 0 0 1 5 1993-04-01 P31269 HXA9_HUMAN HOXA9 Homeobox protein Hox-A9 272 30.2 7 Nucleus; Cytoplasm 0 0 0 1 5 1993-07-01 P31276 HXC13_HUMAN HOXC13 Homeobox protein Hox-C13 330 35.4 12 Nucleus 0 1 Ectodermal dysplasia 9, hair/nail type 0 1 5 1993-07-01 P34910 EVI2B_HUMAN EVI2B Protein EVI2B 448 48.7 17 Membrane 1 0 0 1 5 1994-02-01 P34949 MPI_HUMAN MPI Mannose-6-phosphate isomerase 423 46.7 15 5.3.1.8 Cytoplasm 0 1 Congenital disorder of glycosylation 1B 0 1 5 1994-02-01 P34982 OR1D2_HUMAN OR1D2 Olfactory receptor 1D2 312 35.2 17 Cell membrane 7 0 0 1 5 1994-02-01 P35237 SPB6_HUMAN SERPINB6 Serpin B6 376 42.6 6 Cytoplasm 0 1 Deafness, autosomal recessive, 91 0 1 5 1994-02-01 P35321 SPR1A_HUMAN SPRR1A Cornifin-A 89 9.9 1 Cytoplasm 0 0 0 1 5 1994-02-01 P35326 SPR2A_HUMAN SPRR2A Small proline-rich protein 2A 72 8 1 Secreted; Cytoplasmic vesicle 0 0 0 1 5 1994-02-01 P35452 HXD12_HUMAN HOXD12 Homeobox protein Hox-D12 270 29 2 Nucleus 0 0 0 1 5 1994-06-01 P35556 FBN2_HUMAN FBN2 Fibrillin-2 2912 314.8 5 Secreted 0 2 Contractural arachnodactyly, congenital; Macular degeneration, early-onset 0 1 5 1994-06-01 P35712 SOX6_HUMAN SOX6 Transcription factor SOX-6 828 91.9 11 Nucleus; Cytoplasm 0 1 Tolchin-Le Caignec syndrome 0 1 5 1994-06-01 P36382 CXA5_HUMAN GJA5 Gap junction alpha-5 protein 358 40.4 1 Cell membrane; Cell junction 4 2 Atrial standstill 1; Atrial fibrillation, familial, 11 0 1 5 1994-06-01 P37059 DHB2_HUMAN HSD17B2 17-beta-hydroxysteroid dehydrogenase type 2 387 42.8 16 Endoplasmic reticulum membrane 1 0 0 1 5 1994-06-01 P40145 ADCY8_HUMAN ADCY8 Adenylate cyclase type 8 1251 140.1 8 4.6.1.1 Cell membrane; Basolateral cell membrane; Apical cell membrane; Synapse; Cell projection; Presynaptic cell membrane; Postsynaptic density; Membrane raft; Membrane; Cytoplasmic vesicle 12 0 0 1 5 1995-02-01 P40222 TXLNA_HUMAN TXLNA Alpha-taxilin 546 61.9 1 0 0 0 1 5 1995-02-01 P40425 PBX2_HUMAN PBX2 Pre-B-cell leukemia transcription factor 2 430 45.9 6 Nucleus 0 0 0 1 5 1995-02-01 P41225 SOX3_HUMAN SOX3 Transcription factor SOX-3 446 45.2 X Nucleus 0 4 Panhypopituitarism X-linked; Intellectual developmental disorder, X-linked, with isolated growth hormone deficiency; 46,XX sex reversal 3; Hypoparathyroidism, X-linked 0 1 5 1995-02-01 P41252 SYIC_HUMAN IARS1 Isoleucine--tRNA ligase, cytoplasmic 1262 144.5 9 6.1.1.5 Cytoplasm 0 1 Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 0 1 5 1995-02-01 P42685 FRK_HUMAN FRK Tyrosine-protein kinase FRK 505 58.3 6 2.7.10.2 Cytoplasm; Nucleus 0 0 0 1 5 1995-11-01 P46695 IEX1_HUMAN IER3 Radiation-inducible immediate-early gene IEX-1 156 16.9 6 Membrane 1 0 0 1 5 1995-11-01 P47710 CASA1_HUMAN CSN1S1 Alpha-S1-casein 185 21.7 4 Secreted 0 0 0 1 5 1996-02-01 P48506 GSH1_HUMAN GCLC Glutamate--cysteine ligase catalytic subunit 637 72.8 6 6.3.2.2 0 1 Anemia, congenital, non-spherocytic hemolytic, 7 0 1 5 1996-02-01 P48509 CD151_HUMAN CD151 CD151 antigen 253 28.3 11 Cell membrane 4 1 Epidermolysis bullosa simplex 7, with nephropathy and deafness 0 1 5 1996-02-01 P48742 LHX1_HUMAN LHX1 LIM/homeobox protein Lhx1 406 44.8 17 Nucleus 0 0 0 1 5 1996-02-01 P49247 RPIA_HUMAN RPIA Ribose-5-phosphate isomerase 311 33.3 2 5.3.1.6 0 1 Ribose 5-phosphate isomerase deficiency 0 1 5 1996-02-01 P49326 FMO5_HUMAN FMO5 Flavin-containing monooxygenase 5 533 60.2 1 Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 1996-02-01 P49593 PPM1F_HUMAN PPM1F Protein phosphatase 1F 454 49.8 22 3.1.3.16 0 0 0 1 5 1996-02-01 P49619 DGKG_HUMAN DGKG Diacylglycerol kinase gamma 791 89.1 3 2.7.1.107 Membrane; Cytoplasm 0 0 0 1 5 1996-02-01 P49639 HXA1_HUMAN HOXA1 Homeobox protein Hox-A1 335 36.7 7 Nucleus 0 2 Athabaskan brainstem dysgenesis syndrome; Bosley-Salih-Alorainy syndrome 0 1 5 1996-02-01 P49641 MA2A2_HUMAN MAN2A2 Alpha-mannosidase 2x 1150 130.5 15 3.2.1.114 Golgi apparatus membrane 1 0 0 1 5 1996-02-01 P49703 ARL4D_HUMAN ARL4D ADP-ribosylation factor-like protein 4D 201 22.2 17 Nucleus; Cell membrane; Cytoplasm 0 0 0 1 5 1996-02-01 P49895 IOD1_HUMAN DIO1 Type I iodothyronine deiodinase 249 28.9 1 1.21.99.3, 1.21.99.4 Cell membrane; Endoplasmic reticulum membrane; Basolateral cell membrane 1 1 Thyroid hormone metabolism, abnormal, 2 0 1 5 1996-10-01 P49901 MCSP_HUMAN SMCP Sperm mitochondrial-associated cysteine-rich protein 116 12.8 1 Cytoplasm; Mitochondrion membrane 0 0 0 1 5 1996-10-01 P49908 SEPP1_HUMAN SELENOP Selenoprotein P 381 43.2 5 Secreted 0 0 0 1 5 1996-10-01 P50151 GBG10_HUMAN GNG10 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-10 68 7.2 9 Cell membrane 0 0 0 1 5 1996-10-01 P50458 LHX2_HUMAN LHX2 LIM/homeobox protein Lhx2 406 44.4 9 Nucleus 0 0 0 1 5 1996-10-01 P50553 ASCL1_HUMAN ASCL1 Achaete-scute homolog 1 236 25.5 12 Nucleus 0 0 0 1 5 1996-10-01 P50993 AT1A2_HUMAN ATP1A2 Sodium/potassium-transporting ATPase subunit alpha-2 1020 112.3 1 7.2.2.13 Membrane; Cell membrane 10 4 Migraine, familial hemiplegic, 2; Alternating hemiplegia of childhood 1; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98 0 1 5 1996-10-01 P51817 PRKX_HUMAN PRKX cAMP-dependent protein kinase catalytic subunit PRKX 358 40.9 X 2.7.11.1 Cytoplasm; Nucleus 0 0 0 1 5 1996-10-01 P51884 LUM_HUMAN LUM Lumican 338 38.4 12 Secreted 0 0 0 1 5 1996-10-01 P51956 NEK3_HUMAN NEK3 Serine/threonine-protein kinase Nek3 506 57.7 13 2.7.11.1 Cytoplasm; Cell projection 0 0 0 1 5 1996-10-01 P51959 CCNG1_HUMAN CCNG1 Cyclin-G1 295 34.1 5 Nucleus 0 0 0 1 5 1996-10-01 P52739 ZBT35_HUMAN ZBTB35 Zinc finger and BTB domain-containing protein 35 623 71.4 5 Nucleus 0 0 0 1 5 1996-10-01 P52798 EFNA4_HUMAN EFNA4 Ephrin-A4 201 22.4 1 Cell membrane 0 0 0 1 5 1996-10-01 P52849 NDST2_HUMAN NDST2 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 883 100.9 10 Golgi apparatus membrane 1 0 0 1 5 1996-10-01 P52926 HMGA2_HUMAN HMGA2 High mobility group protein HMGI-C 109 11.8 12 Nucleus 0 1 Silver-Russell syndrome 5 0 1 5 1996-10-01 P52961 NAR1_HUMAN ART1 GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1 327 36.3 11 2.4.2.31 Sarcoplasmic reticulum membrane 0 0 0 1 5 1996-10-01 P53567 CEBPG_HUMAN CEBPG CCAAT/enhancer-binding protein gamma 150 16.4 19 Nucleus 0 0 0 1 5 1996-10-01 P53618 COPB_HUMAN COPB1 Coatomer subunit beta 953 107.1 11 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle; Cell membrane; Endoplasmic reticulum-Golgi intermediate compartment 0 1 Baralle-Macken syndrome 0 1 5 1996-10-01 P53701 CCHL_HUMAN HCCS Holocytochrome c-type synthase 268 30.6 X 4.4.1.17 Mitochondrion inner membrane; Membrane 0 1 Linear skin defects with multiple congenital anomalies 1 0 1 5 1996-10-01 P53804 TTC3_HUMAN TTC3 E3 ubiquitin-protein ligase TTC3 2025 229.9 21 2.3.2.27 Nucleus; Cytoplasm; Golgi apparatus 0 0 0 1 5 1996-10-01 P54296 MYOM2_HUMAN MYOM2 Myomesin-2 1465 164.9 8 Cytoplasm 0 0 0 1 5 1996-10-01 P54707 AT12A_HUMAN ATP12A Potassium-transporting ATPase alpha chain 2 1039 115.5 13 Apical cell membrane 10 0 0 1 5 1996-10-01 P54821 PRRX1_HUMAN PRRX1 Paired mesoderm homeobox protein 1 245 27.3 1 Nucleus 0 1 Agnathia-otocephaly complex 0 1 5 1996-10-01 P54840 GYS2_HUMAN GYS2 Glycogen [starch] synthase, liver 703 81 12 2.4.1.11 0 1 Glycogen storage disease 0 0 1 5 1996-10-01 P54845 NRL_HUMAN NRL Neural retina-specific leucine zipper protein 237 25.9 14 Cytoplasm; Nucleus 0 2 Retinitis pigmentosa 27; Enhanced S-cone syndrome 2 0 1 5 1996-10-01 P54920 SNAA_HUMAN NAPA Alpha-soluble NSF attachment protein 295 33.2 19 Cell membrane 0 0 0 1 5 1996-10-01 P55287 CAD11_HUMAN CDH11 Cadherin-11 796 88 16 Cell membrane 1 2 Elsahy-Waters syndrome; Teebi hypertelorism syndrome 2 0 1 5 1996-10-01 P55327 TPD52_HUMAN TPD52 Tumor protein D52 224 24.3 8 0 0 0 1 5 1996-10-01 P56270 MAZ_HUMAN MAZ Myc-associated zinc finger protein 477 48.6 16 Nucleus 0 0 0 1 5 1998-07-15 P56559 ARL4C_HUMAN ARL4C ADP-ribosylation factor-like protein 4C 192 21.5 2 Cell projection; Cell membrane; Cytoplasm 0 0 0 1 5 1998-12-15 P56645 PER3_HUMAN PER3 Period circadian protein homolog 3 1201 131.9 1 Cytoplasm; Nucleus 0 1 Advanced sleep phase syndrome, familial, 3 0 1 5 1999-07-15 P56851 EP3B_HUMAN EDDM3B Epididymal secretory protein E3-beta 147 17.6 14 Secreted 0 0 0 1 5 2000-05-30 P56880 CLD20_HUMAN CLDN20 Claudin-20 219 23.5 6 Cell junction; Cell membrane 4 0 0 1 5 2000-05-30 P56975 NRG3_HUMAN NRG3 Pro-neuregulin-3, membrane-bound isoform 720 77.9 10 Cell membrane 1 0 0 1 5 2000-12-01 P57088 TMM33_HUMAN TMEM33 Transmembrane protein 33 247 28 4 Endoplasmic reticulum membrane; Melanosome; Nucleus envelope 3 0 0 1 5 2000-12-01 P57678 GEMI4_HUMAN GEMIN4 Gem-associated protein 4 1058 120 17 Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 0 1 5 2000-12-01 P58397 ATS12_HUMAN ADAMTS12 A disintegrin and metalloproteinase with thrombospondin motifs 12 1594 177.7 5 3.4.24.- Secreted 0 0 0 1 5 2001-11-16 P58418 CLRN1_HUMAN CLRN1 Clarin-1 232 25.7 3 Cell membrane 4 2 Usher syndrome 3A; Retinitis pigmentosa 61 0 1 5 2001-12-05 P58876 H2B1D_HUMAN H2BC5 Histone H2B type 1-D 126 13.9 6 Nucleus; Chromosome 0 0 0 1 5 2002-06-20 P60368 KR102_HUMAN KRTAP10-2 Keratin-associated protein 10-2 255 25.6 21 0 0 0 2 5 2004-02-16 P60370 KR105_HUMAN KRTAP10-5 Keratin-associated protein 10-5 271 27.5 21 0 0 0 1 5 2004-02-16 P60412 KR10B_HUMAN KRTAP10-11 Keratin-associated protein 10-11 298 30.2 21 0 0 0 1 5 2004-02-16 P61266 STX1B_HUMAN STX1B Syntaxin-1B 288 33.2 16 Membrane 1 1 Generalized epilepsy with febrile seizures plus 9 0 1 5 2004-05-10 P61952 GBG11_HUMAN GNG11 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-11 73 8.5 7 Cell membrane 0 0 0 1 5 2004-06-07 P62952 BLCAP_HUMAN BLCAP Apoptosis inducing factor BLCAP 87 9.9 20 Cytoplasm; Nucleus; Membrane 2 0 0 1 5 2004-08-31 P67936 TPM4_HUMAN TPM4 Tropomyosin alpha-4 chain 248 28.5 19 Cytoplasm 0 1 Bleeding disorder, platelet-type, 25 0 1 5 1988-04-01 P68543 UBX2A_HUMAN UBXN2A UBX domain-containing protein 2A 259 29.3 2 Golgi apparatus; Endoplasmic reticulum; Perikaryon; Cell projection; Nucleus; Cytoplasm 0 0 0 1 5 2004-11-23 P78332 RBM6_HUMAN RBM6 RNA-binding protein 6 1123 128.6 3 Nucleus 0 0 0 1 5 2001-01-24 P78357 CNTP1_HUMAN CNTNAP1 Contactin-associated protein 1 1384 156.3 17 Membrane; Cell junction 1 2 Lethal congenital contracture syndrome 7; Neuropathy, congenital hypomyelinating, 3 0 1 5 2001-12-05 P78412 IRX6_HUMAN IRX6 Iroquois-class homeodomain protein IRX-6 446 48.2 16 Nucleus 0 0 0 1 5 1998-07-15 P78413 IRX4_HUMAN IRX4 Iroquois-class homeodomain protein IRX-4 519 54.4 5 Nucleus 0 0 0 1 5 1998-07-15 P78508 KCJ10_HUMAN KCNJ10 ATP-sensitive inward rectifier potassium channel 10 379 42.5 1 Membrane; Basolateral cell membrane 2 1 Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance 0 1 5 1997-11-01 P78562 PHEX_HUMAN PHEX Phosphate-regulating neutral endopeptidase PHEX 749 86.5 X 3.4.24.- Cell membrane 1 1 Hypophosphatemic rickets, X-linked dominant 0 1 5 1997-11-01 P80303 NUCB2_HUMAN NUCB2 Nucleobindin-2 420 50.2 11 Golgi apparatus; Membrane; Cytoplasm; Secreted; Endoplasmic reticulum; Nucleus envelope 0 0 0 1 5 1994-02-01 P80404 GABT_HUMAN ABAT 4-aminobutyrate aminotransferase, mitochondrial 500 56.4 16 2.6.1.19 Mitochondrion matrix 0 1 GABA-transaminase deficiency 0 1 5 1995-11-01 P82094 TMF1_HUMAN TMF1 TATA element modulatory factor 1093 122.8 3 Cytoplasm; Nucleus; Golgi apparatus membrane 0 0 0 1 5 2000-05-30 P84996 ALEX_HUMAN GNAS Protein ALEX 626 67.9 20 Cell membrane; Cell projection 0 3 ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism 1B; Colorectal cancer 0 1 5 2006-10-17 P85298 RHG08_HUMAN ARHGAP8 Rho GTPase-activating protein 8 464 53.5 22 0 0 0 1 5 2007-10-23 P98198 AT8B2_HUMAN ATP8B2 Phospholipid-transporting ATPase ID 1209 137.4 1 7.6.2.1 Cell membrane; Endoplasmic reticulum membrane 10 0 0 1 5 2000-05-30 Q00325 S25A3_HUMAN SLC25A3 Solute carrier family 25 member 3 362 40.1 12 Mitochondrion inner membrane 6 1 Mitochondrial phosphate carrier deficiency 0 1 5 1992-12-01 Q00537 CDK17_HUMAN CDK17 Cyclin-dependent kinase 17 523 59.6 12 2.7.11.22 0 0 0 1 5 1993-04-01 Q00587 BORG5_HUMAN CDC42EP1 Cdc42 effector protein 1 391 40.3 22 Endomembrane system; Cytoplasm 0 0 0 1 5 1994-02-01 Q00G26 PLIN5_HUMAN PLIN5 Perilipin-5 463 50.8 19 Lipid droplet; Cytoplasm; Mitochondrion 0 0 0 1 5 2008-06-10 Q00LT1 PRCD_HUMAN PRCD Photoreceptor disk component PRCD 54 6 17 Cell projection; Membrane; Endoplasmic reticulum; Golgi apparatus 0 1 Retinitis pigmentosa 36 0 1 5 2007-03-20 Q01534 TSPY1_HUMAN TSPY1 Testis-specific Y-encoded protein 1 308 35 Y Cytoplasm; Nucleus 0 0 0 1 5 1994-06-01 Q01740 FMO1_HUMAN FMO1 Flavin-containing monooxygenase 1 532 60.3 1 1.14.13.148, 1.14.13.8 Endoplasmic reticulum membrane 1 0 0 1 5 1993-07-01 Q01814 AT2B2_HUMAN ATP2B2 Plasma membrane calcium-transporting ATPase 2 1243 136.9 3 7.2.2.10 Cell membrane; Synapse 10 1 Deafness, autosomal dominant, 82 0 1 5 1993-07-01 Q01892 SPIB_HUMAN SPIB Transcription factor Spi-B 262 28.8 19 Nucleus 0 0 0 1 5 1994-06-01 Q02040 AK17A_HUMAN AKAP17A A-kinase anchor protein 17A 695 80.7 X Nucleus speckle 0 0 0 1 5 1995-02-01 Q02413 DSG1_HUMAN DSG1 Desmoglein-1 1049 113.7 18 Cell membrane; Cell junction; Cytoplasm; Nucleus 1 2 Palmoplantar keratoderma 1, striate, focal, or diffuse; Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE 0 1 5 1993-10-01 Q02446 SP4_HUMAN SP4 Transcription factor Sp4 784 82 7 Nucleus 0 0 0 1 5 1995-02-01 Q02575 HEN1_HUMAN NHLH1 Helix-loop-helix protein 1 133 14.6 1 Nucleus 0 0 0 1 5 1993-07-01 Q02742 GCNT1_HUMAN GCNT1 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 428 49.8 9 2.4.1.102 Golgi apparatus membrane 1 0 0 1 5 1994-06-01 Q02928 CP4AB_HUMAN CYP4A11 Cytochrome P450 4A11 519 59.3 1 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 0 1 5 1997-11-01 Q03403 TFF2_HUMAN TFF2 Trefoil factor 2 129 14.3 21 Secreted 0 0 0 1 5 1994-10-01 Q04725 TLE2_HUMAN TLE2 Transducin-like enhancer protein 2 743 79.8 19 Nucleus 0 0 0 1 5 1994-02-01 Q04741 EMX1_HUMAN EMX1 Homeobox protein EMX1 290 31.3 2 Nucleus; Cytoplasm 0 0 0 1 5 1995-02-01 Q05682 CALD1_HUMAN CALD1 Caldesmon 793 93.2 7 Cytoplasm 0 0 0 1 5 1997-11-01 Q05D32 CTSL2_HUMAN CTDSPL2 CTD small phosphatase-like protein 2 466 53 15 3.1.3.16 Nucleus 0 0 0 1 5 2008-04-29 Q06495 NPT2A_HUMAN SLC34A1 Sodium-dependent phosphate transport protein 2A 639 68.9 5 Apical cell membrane; Cell membrane 8 3 Nephrolithiasis/osteoporosis, hypophosphatemic, 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2 0 1 5 1995-02-01 Q06945 SOX4_HUMAN SOX4 Transcription factor SOX-4 474 47.3 6 Nucleus 0 1 Intellectual developmental disorder with speech delay and dysmorphic facies 0 1 5 1994-06-01 Q07065 CKAP4_HUMAN CKAP4 Cytoskeleton-associated protein 4 602 66 12 Endoplasmic reticulum membrane; Cell membrane; Cytoplasm 1 0 0 1 5 2006-10-17 Q07283 TRHY_HUMAN TCHH Trichohyalin 1943 253.9 1 0 1 Uncombable hair syndrome 3 0 1 5 1994-10-01 Q07326 PIGF_HUMAN PIGF GPI ethanolamine phosphate transferase, stabilizing subunit 219 24.9 2 Endoplasmic reticulum membrane 6 1 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome 0 1 5 1995-02-01 Q0D2K3 RIPP1_HUMAN RIPPLY1 Protein ripply1 151 16.4 X Nucleus 0 0 0 1 5 2007-10-23 Q0IIM8 TBC8B_HUMAN TBC1D8B TBC1 domain family member 8B 1120 128.7 X Cytoplasm 0 1 Nephrotic syndrome 20 0 1 5 2008-05-20 Q0PNE2 ELP6_HUMAN ELP6 Elongator complex protein 6 266 29.8 3 Cytoplasm; Nucleus 0 0 0 1 5 2007-02-06 Q0VAK6 LMOD3_HUMAN LMOD3 Leiomodin-3 560 64.9 3 Cytoplasm 0 1 Nemaline myopathy 10 0 1 5 2006-11-28 Q0VD86 INCA1_HUMAN INCA1 Protein INCA1 236 26.8 17 Nucleus; Cytoplasm 0 0 0 1 5 2008-04-29 Q0VDF9 HSP7E_HUMAN HSPA14 Heat shock 70 kDa protein 14 509 54.8 10 Cytoplasm 0 0 0 1 5 2007-05-29 Q0VG99 MESP2_HUMAN MESP2 Mesoderm posterior protein 2 397 41.8 15 Nucleus 0 1 Spondylocostal dysostosis 2, autosomal recessive 0 1 5 2007-07-24 Q0WX57 U17LO_HUMAN USP17L24 Ubiquitin carboxyl-terminal hydrolase 17-like protein 24 530 59.7 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 1 5 2008-04-29 Q10571 MN1_HUMAN MN1 Transcriptional activator MN1 1320 136 22 Nucleus 0 1 CEBALID syndrome 0 1 5 1996-10-01 Q12836 ZP4_HUMAN ZP4 Zona pellucida sperm-binding protein 4 540 59.4 1 Cell membrane 1 0 0 1 5 2004-04-13 Q12899 TRI26_HUMAN TRIM26 Tripartite motif-containing protein 26 539 62.2 6 2.3.2.27 Cytoplasm; Nucleus 0 0 0 1 5 2001-09-26 Q12947 FOXF2_HUMAN FOXF2 Forkhead box protein F2 444 46 6 Nucleus 0 0 0 1 5 1997-11-01 Q12965 MYO1E_HUMAN MYO1E Unconventional myosin-Ie 1108 127.1 15 Cytoplasm; Cytoplasmic vesicle; Cell junction 0 1 Focal segmental glomerulosclerosis 6 0 1 5 2002-10-10 Q12982 BNIP2_HUMAN BNIP2 BCL2/adenovirus E1B 19 kDa protein-interacting protein 2 314 36 15 Cytoplasm 0 0 0 1 5 1999-07-15 Q13021 MALL_HUMAN MALL MAL-like protein 153 17.4 2 Membrane 4 0 0 1 5 1998-07-15 Q13117 DAZ2_HUMAN DAZ2 Deleted in azoospermia protein 2 558 63.1 Y Cytoplasm; Nucleus 0 1 Spermatogenic failure Y-linked 2 0 1 5 2004-03-01 Q13275 SEM3F_HUMAN SEMA3F Semaphorin-3F 785 88.4 3 Secreted 0 0 0 1 5 2000-05-30 Q13277 STX3_HUMAN STX3 Syntaxin-3 289 33.2 11 Apical cell membrane 1 2 Retinal dystrophy and microvillus inclusion disease; Diarrhea 12, with microvillus atrophy 0 1 5 1997-11-01 Q13319 CD5R2_HUMAN CDK5R2 Cyclin-dependent kinase 5 activator 2 367 38.7 2 Cell membrane 0 0 0 1 5 1997-11-01 Q13368 MPP3_HUMAN MPP3 MAGUK p55 subfamily member 3 585 66.2 17 Cell membrane; Apical cell membrane; Cell junction 0 0 0 1 5 1997-11-01 Q13410 BT1A1_HUMAN BTN1A1 Butyrophilin subfamily 1 member A1 526 59 6 Membrane; Secreted 1 0 0 1 5 1997-11-01 Q13428 TCOF_HUMAN TCOF1 Treacle protein 1488 152.1 5 Nucleus 0 1 Treacher Collins syndrome 1 0 1 5 1997-11-01 Q13449 LSAMP_HUMAN LSAMP Limbic system-associated membrane protein 338 37.4 3 Cell membrane 0 0 0 1 5 1997-11-01 Q13491 GPM6B_HUMAN GPM6B Neuronal membrane glycoprotein M6-b 265 29 X Cell membrane 4 0 0 1 5 1997-11-01 Q13724 MOGS_HUMAN MOGS Mannosyl-oligosaccharide glucosidase 837 91.9 2 3.2.1.106 Endoplasmic reticulum membrane 1 1 Type IIb congenital disorder of glycosylation 0 1 5 1997-11-01 Q13751 LAMB3_HUMAN LAMB3 Laminin subunit beta-3 1172 129.6 1 Secreted 0 3 Epidermolysis bullosa, junctional 1B, severe; Epidermolysis bullosa, junctional 1A, intermediate; Amelogenesis imperfecta 1A 0 1 5 1997-11-01 Q14031 CO4A6_HUMAN COL4A6 Collagen alpha-6(IV) chain 1691 163.8 X Secreted 0 1 Deafness, X-linked, 6 0 1 5 1997-11-01 Q14140 SRTD2_HUMAN SERTAD2 SERTA domain-containing protein 2 314 33.9 2 Nucleus; Cytoplasm 0 0 0 1 5 1998-07-15 Q14147 DHX34_HUMAN DHX34 Probable ATP-dependent RNA helicase DHX34 1143 128.1 19 3.6.4.13 0 0 0 1 5 1998-07-15 Q14246 AGRE1_HUMAN ADGRE1 Adhesion G protein-coupled receptor E1 886 97.7 19 Cell membrane 7 0 0 1 5 1997-11-01 Q14520 HABP2_HUMAN HABP2 Factor VII-activating protease 560 62.7 10 3.4.21.- Secreted 0 1 Thyroid cancer, non-medullary, 5 0 1 5 2005-08-30 Q14563 SEM3A_HUMAN SEMA3A Semaphorin-3A 771 88.9 7 Secreted 0 1 Hypogonadotropic hypogonadism 16 with or without anosmia 0 1 5 2000-05-30 Q14644 RASA3_HUMAN RASA3 Ras GTPase-activating protein 3 834 95.7 13 Cell membrane 0 0 0 1 5 2001-05-04 Q14667 BLTP2_HUMAN BLTP2 Bridge-like lipid transfer protein family member 2 2235 253.7 17 Cell membrane; Endoplasmic reticulum membrane; Mitochondrion membrane 0 0 0 1 5 2006-09-05 Q14686 NCOA6_HUMAN NCOA6 Nuclear receptor coactivator 6 2063 219.1 20 Nucleus 0 0 0 1 5 2003-02-12 Q14774 HLX_HUMAN HLX H2.0-like homeobox protein 488 50.8 1 Nucleus 0 0 0 1 5 1997-11-01 Q14802 FXYD3_HUMAN FXYD3 FXYD domain-containing ion transport regulator 3 87 9.3 19 Cell membrane 1 0 0 1 5 1998-07-15 Q14940 SL9A5_HUMAN SLC9A5 Sodium/hydrogen exchanger 5 896 99 16 Cell membrane; Recycling endosome membrane; Cell projection; Synaptic cell membrane; Cell junction 12 0 0 1 5 1997-11-01 Q14943 KI3S1_HUMAN KIR3DS1 Killer cell immunoglobulin-like receptor 3DS1 382 42.5 Cell membrane 1 0 0 1 5 1997-11-01 Q14978 NOLC1_HUMAN NOLC1 Nucleolar and coiled-body phosphoprotein 1 699 73.6 10 Nucleus; Cytoplasm 0 0 0 1 5 2000-12-01 Q14C86 GAPD1_HUMAN GAPVD1 GTPase-activating protein and VPS9 domain-containing protein 1 1478 165 9 Membrane; Endosome 0 0 0 1 5 2008-03-18 Q14CZ0 HAPR1_HUMAN HAPSTR1 HUWE1-associated protein modifying stress responses 1 275 30.9 16 Nucleus; Cytoplasm 0 0 0 1 5 2007-08-21 Q15021 CND1_HUMAN NCAPD2 Condensin complex subunit 1 1401 157.2 12 Nucleus; Cytoplasm; Chromosome 0 1 Microcephaly 21, primary, autosomal recessive 0 1 5 2003-04-23 Q15034 HERC3_HUMAN HERC3 Probable E3 ubiquitin-protein ligase HERC3 1050 117.2 4 2.3.2.26 Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 1997-11-01 Q15038 DAZP2_HUMAN DAZAP2 DAZ-associated protein 2 168 17.3 12 Cytoplasm; Nucleus; Nucleus speckle 0 0 0 1 5 2004-03-01 Q15051 IQCB1_HUMAN IQCB1 IQ calmodulin-binding motif-containing protein 1 598 68.9 3 Cytoplasm 0 2 Senior-Loken syndrome 5; Leber congenital amaurosis 10 0 1 5 1998-07-15 Q15056 IF4H_HUMAN EIF4H Eukaryotic translation initiation factor 4H 248 27.4 7 Cytoplasm 0 0 0 1 5 1998-07-15 Q15077 P2RY6_HUMAN P2RY6 P2Y purinoceptor 6 328 36.4 11 Cell membrane 7 0 0 1 5 1997-11-01 Q15283 RASA2_HUMAN RASA2 Ras GTPase-activating protein 2 850 96.6 3 Cytoplasm 0 0 0 1 5 2001-05-04 Q15319 PO4F3_HUMAN POU4F3 POU domain, class 4, transcription factor 3 338 37.1 5 Nucleus; Cytoplasm 0 1 Deafness, autosomal dominant, 15 0 1 5 1997-11-01 Q15573 TAF1A_HUMAN TAF1A TATA box-binding protein-associated factor RNA polymerase I subunit A 450 52.7 1 Nucleus 0 0 0 1 5 2006-03-21 Q15643 TRIPB_HUMAN TRIP11 Thyroid receptor-interacting protein 11 1979 227.6 14 Golgi apparatus; Cytoplasm; Endoplasmic reticulum-Golgi intermediate compartment membrane 0 2 Achondrogenesis 1A; Odontochondrodysplasia 1 0 1 5 1997-11-01 Q15735 PI5PA_HUMAN INPP5J Phosphatidylinositol 4,5-bisphosphate 5-phosphatase A 1006 107.2 22 3.1.3.36 Cytoplasm 0 0 0 1 5 2003-04-30 Q15836 VAMP3_HUMAN VAMP3 Vesicle-associated membrane protein 3 100 11.3 1 Early endosome membrane; Recycling endosome membrane; Synapse 1 0 0 1 5 1997-11-01 Q16143 SYUB_HUMAN SNCB Beta-synuclein 134 14.3 5 Cytoplasm 0 0 0 1 5 1997-11-01 Q16342 PDCD2_HUMAN PDCD2 uS5 assembly chaperone PDCD2 344 38.6 6 Nucleus; Cytoplasm 0 0 0 1 5 2000-12-01 Q16363 LAMA4_HUMAN LAMA4 Laminin subunit alpha-4 1823 202.6 6 Secreted 0 1 Cardiomyopathy, dilated, 1JJ 0 1 5 1997-11-01 Q16563 SYPL1_HUMAN SYPL1 Synaptophysin-like protein 1 259 28.6 7 Cytoplasmic vesicle membrane; Melanosome 4 0 0 1 5 2003-10-10 Q16617 NKG7_HUMAN NKG7 Protein NKG7 165 17.7 19 Cell membrane; Cytolytic granule membrane 4 0 0 1 5 1998-12-15 Q16891 MIC60_HUMAN IMMT MICOS complex subunit MIC60 758 83.7 2 Mitochondrion inner membrane; Mitochondrion 1 0 0 1 5 2003-03-28 Q17RB8 LONF1_HUMAN LONRF1 LON peptidase N-terminal domain and RING finger protein 1 773 86.7 8 0 0 0 1 5 2007-02-20 Q17RW2 COOA1_HUMAN COL24A1 Collagen alpha-1(XXIV) chain 1714 175.5 1 Secreted 0 0 0 1 5 2008-02-05 Q1W6H9 F110C_HUMAN FAM110C Protein FAM110C 321 33.9 2 Cytoplasm; Nucleus 0 0 0 1 5 2007-07-10 Q24JP5 T132A_HUMAN TMEM132A Transmembrane protein 132A 1023 110.1 11 Golgi apparatus membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2007-05-15 Q29RF7 PDS5A_HUMAN PDS5A Sister chromatid cohesion protein PDS5 homolog A 1337 150.8 4 Nucleus 0 0 0 1 5 2007-07-24 Q2KHT3 CL16A_HUMAN CLEC16A Protein CLEC16A 1053 117.7 16 Endosome membrane; Lysosome membrane 0 1 Type 1 diabetes mellitus 0 1 5 2007-02-06 Q2M1Z3 RHG31_HUMAN ARHGAP31 Rho GTPase-activating protein 31 1444 157 3 Cell projection; Cell junction 0 1 Adams-Oliver syndrome 1 0 1 5 2008-02-26 Q2M389 WASC4_HUMAN WASHC4 WASH complex subunit 4 1173 136.4 12 Early endosome 0 1 Intellectual developmental disorder, autosomal recessive 43 0 1 5 2007-04-03 Q2QGD7 ZXDC_HUMAN ZXDC Zinc finger protein ZXDC 858 90 3 Nucleus 0 0 0 1 5 2007-06-26 Q2TAC2 CCD57_HUMAN CCDC57 Coiled-coil domain-containing protein 57 915 103 17 Cytoplasm 0 0 0 1 5 2007-05-29 Q2TAL6 VWC2_HUMAN VWC2 Brorin 325 35.3 7 Secreted; Synapse 0 0 0 1 5 2007-10-23 Q2TB10 ZN800_HUMAN ZNF800 Zinc finger protein 800 664 75.2 7 Nucleus; Chromosome 0 0 0 1 5 2007-09-11 Q2WEN9 CEA16_HUMAN CEACAM16 Cell adhesion molecule CEACAM16 425 45.9 19 Secreted 0 2 Deafness, autosomal dominant, 4B; Deafness, autosomal recessive, 113 0 1 5 2007-08-21 Q3I5F7 ACOT6_HUMAN ACOT6 Acyl-coenzyme A thioesterase 6 421 46.8 14 3.1.2.- Peroxisome 0 0 0 1 5 2007-10-02 Q3KNS6 ZN829_HUMAN ZNF829 Zinc finger protein 829 432 50.1 19 Nucleus 0 0 0 1 5 2008-05-20 Q3KNV8 PCGF3_HUMAN PCGF3 Polycomb group RING finger protein 3 242 28.1 4 Nucleus 0 0 0 1 5 2007-02-20 Q3KR37 ASTRB_HUMAN GRAMD1B Protein Aster-B 738 85.4 11 Endoplasmic reticulum membrane; Cell membrane 1 0 0 1 5 2007-05-15 Q3KRB8 RHGBB_HUMAN ARHGAP11B Inactive Rho GTPase-activating protein 11B 267 30.3 15 Mitochondrion matrix 0 0 0 1 5 2008-02-05 Q3LI59 KR212_HUMAN KRTAP21-2 Keratin-associated protein 21-2 83 8.6 21 0 0 0 1 5 2006-02-21 Q3LI64 KRA61_HUMAN KRTAP6-1 Keratin-associated protein 6-1 71 7.3 21 0 0 0 1 5 2006-02-21 Q3LI72 KR195_HUMAN KRTAP19-5 Keratin-associated protein 19-5 72 7.6 21 0 0 0 1 5 2006-02-21 Q3LI76 KR151_HUMAN KRTAP15-1 Keratin-associated protein 15-1 137 15 21 0 0 0 1 5 2006-02-21 Q3LXA3 TKFC_HUMAN TKFC Triokinase/FMN cyclase 575 58.9 11 0 1 Triokinase and FMN cyclase deficiency syndrome 0 1 5 2006-01-24 Q3MIW9 MUCL3_HUMAN MUCL3 Mucin-like protein 3 517 56.3 Cell membrane; Cytoplasm 1 0 0 1 5 2008-02-26 Q3MUY2 PIGY_HUMAN PIGY Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y 71 8.1 4 Endoplasmic reticulum membrane 2 1 Hyperphosphatasia with impaired intellectual development syndrome 6 0 1 5 2006-07-25 Q3SXY7 LRIT3_HUMAN LRIT3 Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 3 679 74.8 4 Cell projection; Perikaryon; Endoplasmic reticulum membrane 1 1 Night blindness, congenital stationary, 1F 0 1 5 2007-11-13 Q3SY77 UD3A2_HUMAN UGT3A2 UDP-glycosyltransferase 3A2 523 59.5 5 2.4.1.170, 2.4.1.185 Membrane 1 0 0 1 5 2007-08-21 Q3SY84 K2C71_HUMAN KRT71 Keratin, type II cytoskeletal 71 523 57.3 12 Cytoplasm 0 1 Hypotrichosis 13 0 1 5 2008-01-15 Q3YBM2 T176B_HUMAN TMEM176B Transmembrane protein 176B 270 29.1 7 Nucleus membrane 4 0 0 1 5 2007-03-06 Q3ZCM7 TBB8_HUMAN TUBB8 Tubulin beta-8 chain 444 49.8 10 Cytoplasm 0 1 Oocyte/zygote/embryo maturation arrest 2 0 1 5 2008-02-26 Q496M5 PLK5_HUMAN PLK5 Inactive serine/threonine-protein kinase PLK5 336 36.3 19 Nucleus; Cytoplasm 0 0 0 1 5 2007-03-20 Q49A88 CCD14_HUMAN CCDC14 Coiled-coil domain-containing protein 14 953 106.3 3 Cytoplasm 0 0 0 1 5 2008-05-20 Q4G163 FBX43_HUMAN FBXO43 F-box only protein 43 708 78.4 8 0 2 Oocyte/zygote/embryo maturation arrest 12; Spermatogenic failure 64 0 1 5 2006-07-25 Q4KWH8 PLCH1_HUMAN PLCH1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 1693 189.2 3 3.1.4.11 Cytoplasm; Membrane 0 1 Holoprosencephaly 14 0 1 5 2008-04-08 Q53EP0 FND3B_HUMAN FNDC3B Fibronectin type III domain-containing protein 3B 1204 132.9 3 Membrane 1 0 0 1 5 2007-05-01 Q53FZ2 ACSM3_HUMAN ACSM3 Acyl-coenzyme A synthetase ACSM3, mitochondrial 586 66.2 16 6.2.1.2 Mitochondrion; Mitochondrion matrix 0 0 0 1 5 2007-10-02 Q53QV2 LBH_HUMAN LBH Protein LBH 105 12.2 2 Nucleus; Cytoplasm 0 0 0 1 5 2008-03-18 Q53RT3 APRV1_HUMAN ASPRV1 Retroviral-like aspartic protease 1 343 37 2 3.4.23.- Membrane 1 1 Ichthyosis, lamellar, autosomal dominant 0 1 5 2007-01-09 Q53TS8 CTSRT_HUMAN CATSPERT Cation channel sperm-associated targeting subunit tau 1820 209.1 2 Cell projection 0 1 Spermatogenic failure 68 0 1 5 2006-01-10 Q56P42 PYDC2_HUMAN PYDC2 Pyrin domain-containing protein 2 97 10.8 3 Cytoplasm; Nucleus 0 0 0 1 5 2008-09-02 Q58DX5 NADL2_HUMAN NAALADL2 Inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 795 88.7 3 Membrane 1 0 0 1 5 2008-01-15 Q5DID0 UROL1_HUMAN UMODL1 Uromodulin-like 1 1318 144.3 21 Cell membrane 1 0 0 1 5 2006-03-21 Q5H9R7 PP6R3_HUMAN PPP6R3 Serine/threonine-protein phosphatase 6 regulatory subunit 3 873 97.7 11 Cytoplasm; Nucleus 0 0 0 1 5 2006-02-07 Q5HYN5 CT451_HUMAN CT45A1 Cancer/testis antigen family 45 member A1 189 21.3 X Nucleus 0 0 0 1 5 2007-10-23 Q5HYW2 NHSL2_HUMAN NHSL2 NHS-like protein 2 1225 133.3 X 0 0 0 1 5 2008-06-10 Q5I7T1 AG10B_HUMAN ALG10B Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B 473 55.4 12 2.4.1.256 Endoplasmic reticulum membrane 12 0 0 1 5 2005-11-08 Q5J8X5 M4A13_HUMAN MS4A13 Membrane-spanning 4-domains subfamily A member 13 152 17.3 11 Membrane 4 0 0 1 5 2008-01-15 Q5JTY5 ZNG1C_HUMAN ZNG1C Zinc-regulated GTPase metalloprotein activator 1C 395 44 9 3.6.5.- Nucleus 0 0 0 1 5 2008-02-05 Q5M9N0 CD158_HUMAN CCDC158 Coiled-coil domain-containing protein 158 1113 127.1 4 Cytoplasmic vesicle; Early endosome 0 0 0 1 5 2008-03-18 Q5QP82 DCA10_HUMAN DCAF10 DDB1- and CUL4-associated factor 10 559 60.6 9 0 0 0 1 5 2007-10-02 Q5SQN1 SNP47_HUMAN SNAP47 Synaptosomal-associated protein 47 464 52.6 1 Endomembrane system; Cytoplasm 0 0 0 1 5 2007-10-23 Q5SXH7 PKHS1_HUMAN PLEKHS1 Pleckstrin homology domain-containing family S member 1 465 52.5 10 0 0 0 1 5 2008-02-26 Q5SY80 CTSRE_HUMAN CATSPERE Cation channel sperm-associated auxiliary subunit epsilon 951 109.7 1 Cell projection 1 0 0 1 5 2006-10-03 Q5T0F9 C2D1B_HUMAN CC2D1B Coiled-coil and C2 domain-containing protein 1B 858 94.2 1 Nucleus 0 0 0 1 5 2007-05-29 Q5T124 UBX11_HUMAN UBXN11 UBX domain-containing protein 11 520 57.4 1 Cytoplasm 0 0 0 1 5 2007-05-01 Q5T1H1 EYS_HUMAN EYS Protein eyes shut homolog 3165 350.8 6 Cell projection; Cytoplasm; Secreted 0 1 Retinitis pigmentosa 25 0 1 5 2008-05-20 Q5T2D2 TRML2_HUMAN TREML2 Trem-like transcript 2 protein 321 35.1 6 Cell membrane 1 0 0 1 5 2006-10-17 Q5T3U5 MRP7_HUMAN ABCC10 ATP-binding cassette sub-family C member 10 1492 161.6 6 7.6.2.2, 7.6.2.3 Cell membrane; Basolateral cell membrane; Basal cell membrane 17 0 0 1 5 2006-10-17 Q5T4F7 SFRP5_HUMAN SFRP5 Secreted frizzled-related protein 5 317 35.6 10 Secreted 0 0 0 1 5 2005-03-15 Q5T4T6 SYC2L_HUMAN SYCP2L Synaptonemal complex protein 2-like 812 93.6 6 Nucleus; Chromosome 0 1 Premature ovarian failure 24 0 1 5 2008-05-20 Q5T5P2 SKT_HUMAN KIAA1217 Sickle tail protein homolog 1943 214.1 10 Cytoplasm 0 0 0 1 5 2007-05-15 Q5T749 KPRP_HUMAN KPRP Keratinocyte proline-rich protein 579 64.1 1 Cytoplasm 0 0 0 1 5 2007-01-09 Q5T752 LCE1D_HUMAN LCE1D Late cornified envelope protein 1D 114 11.2 1 0 0 0 1 5 2006-05-16 Q5T753 LCE1E_HUMAN LCE1E Late cornified envelope protein 1E 118 11.6 1 0 0 0 1 5 2006-05-16 Q5T7B8 KIF24_HUMAN KIF24 Kinesin-like protein KIF24 1368 151.9 9 Cytoplasm 0 0 0 1 5 2007-02-20 Q5T7N3 KANK4_HUMAN KANK4 KN motif and ankyrin repeat domain-containing protein 4 995 107.3 1 Cytoplasm 0 0 0 1 5 2006-06-27 Q5T7P3 LCE1B_HUMAN LCE1B Late cornified envelope protein 1B 118 11.6 1 0 0 0 1 5 2006-05-16 Q5T9G4 ARM12_HUMAN ARMC12 Armadillo repeat-containing protein 12 340 38.6 6 Nucleus; Mitochondrion outer membrane 0 1 Spermatogenic failure 90 0 1 5 2006-04-04 Q5TA76 LCE3A_HUMAN LCE3A Late cornified envelope protein 3A 89 9.1 1 0 0 0 1 5 2006-05-16 Q5TAT6 CODA1_HUMAN COL13A1 Collagen alpha-1(XIII) chain 717 70 10 Cell membrane; Postsynaptic cell membrane 1 1 Myasthenic syndrome, congenital, 19 0 1 5 2007-04-17 Q5TCM9 LCE5A_HUMAN LCE5A Late cornified envelope protein 5A 118 11.8 1 0 0 0 1 5 2006-05-16 Q5TCS8 KAD9_HUMAN AK9 Adenylate kinase 9 1911 221.4 6 2.7.4.4, 2.7.4.6 Cytoplasm; Nucleus; Cell projection 0 1 Spermatogenic failure 89 0 1 5 2007-09-11 Q5TGU0 TSPO2_HUMAN TSPO2 Translocator protein 2 170 19.1 6 Endoplasmic reticulum membrane; Cell membrane 5 0 0 1 5 2007-06-26 Q5TIA1 MEI1_HUMAN MEI1 Meiosis inhibitor protein 1 1274 141.2 22 0 1 Hydatidiform mole, recurrent, 3 0 1 5 2008-09-02 Q5UE93 PI3R6_HUMAN PIK3R6 Phosphoinositide 3-kinase regulatory subunit 6 754 84.3 17 Cytoplasm; Cell membrane 0 0 0 1 5 2006-05-16 Q5VT99 LRC38_HUMAN LRRC38 Leucine-rich repeat-containing protein 38 294 32.1 1 Cell membrane 1 0 0 1 5 2007-12-04 Q5VTD9 GFI1B_HUMAN GFI1B Zinc finger protein Gfi-1b 330 37.5 9 Nucleus 0 1 Bleeding disorder, platelet-type, 17 0 1 5 2007-10-02 Q5VU43 MYOME_HUMAN PDE4DIP Myomegalin 2346 265.1 1 Golgi apparatus; Cytoplasm 0 0 0 1 5 2007-10-23 Q5VWC8 HACD4_HUMAN HACD4 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 4 232 27.5 9 4.2.1.134 Endoplasmic reticulum membrane 6 0 0 1 5 2008-01-15 Q5VWX1 KHDR2_HUMAN KHDRBS2 KH domain-containing, RNA-binding, signal transduction-associated protein 2 349 38.9 6 Nucleus 0 0 0 1 5 2007-11-13 Q5VXI9 LIPN_HUMAN LIPN Lipase member N 398 45.5 10 3.1.1.13, 3.1.1.3 Secreted 0 1 Ichthyosis, congenital, autosomal recessive 8 0 1 5 2007-05-15 Q5VXU9 SHOC1_HUMAN SHOC1 Protein shortage in chiasmata 1 ortholog 1444 165.2 9 3.6.-.- Chromosome 0 1 Spermatogenic failure 75 0 1 5 2005-07-19 Q5VYK3 ECM29_HUMAN ECPAS Proteasome adapter and scaffold protein ECM29 1845 204.3 9 Endoplasmic reticulum; Endoplasmic reticulum-Golgi intermediate compartment; Endosome; Cytoplasm; Nucleus; Cytoplasmic vesicle 0 0 0 1 5 2005-03-15 Q5VZY2 PLPP4_HUMAN PLPP4 Phospholipid phosphatase 4 271 30.4 10 3.1.3.4, 3.6.1.75 Membrane 6 0 0 1 5 2007-05-15 Q5W041 ARMC3_HUMAN ARMC3 Armadillo repeat-containing protein 3 872 96.4 10 0 0 0 1 5 2007-04-17 Q5XKL5 BTBD8_HUMAN BTBD8 BTB/POZ domain-containing protein 8 1792 199 1 Cell projection; Presynapse; Cytoplasmic vesicle; Nucleus 0 0 0 1 5 2006-05-30 Q5XKP0 MIC13_HUMAN MICOS13 MICOS complex subunit MIC13 118 13.1 19 Mitochondrion inner membrane 1 1 Combined oxidative phosphorylation deficiency 37 0 1 5 2007-06-12 Q5XXA6 ANO1_HUMAN ANO1 Anoctamin-1 986 114.1 11 Apical cell membrane; Presynapse 10 2 Intestinal dysmotility syndrome; Moyamoya disease 7 0 1 5 2007-05-29 Q60I27 AL2CL_HUMAN ALS2CL ALS2 C-terminal-like protein 953 107.7 3 Cytoplasm 0 0 0 1 5 2008-01-15 Q63ZY6 NSN5C_HUMAN NSUN5P2 Putative methyltransferase NSUN5C 315 34.3 2.1.1.- 0 0 0 5 5 2006-11-28 Q66K80 RUAS1_HUMAN RUSC1-AS1 Putative uncharacterized protein RUSC1-AS1 236 24.5 0 0 0 5 5 2006-10-03 Q684P5 RPGP2_HUMAN RAP1GAP2 Rap1 GTPase-activating protein 2 730 80.1 17 Cytoplasm 0 0 0 1 5 2007-12-04 Q685J3 MUC17_HUMAN MUC17 Mucin-17 4493 451.7 7 Cell membrane 1 0 0 1 5 2008-03-18 Q68D06 SLN13_HUMAN SLFN13 Schlafen family member 13 897 102 17 3.1.-.- Cytoplasm 0 0 0 1 5 2007-04-03 Q68DD2 PA24F_HUMAN PLA2G4F Cytosolic phospholipase A2 zeta 849 95.1 15 3.1.1.4 Cytoplasm; Cell membrane; Mitochondrion 0 0 0 1 5 2006-07-25 Q68EM7 RHG17_HUMAN ARHGAP17 Rho GTPase-activating protein 17 881 95.4 16 Membrane; Cytoplasm; Cell junction 0 0 0 1 5 2007-03-20 Q68G74 LHX8_HUMAN LHX8 LIM/homeobox protein Lhx8 356 39.3 1 Nucleus 0 0 0 1 5 2007-07-24 Q69383 REC6_HUMAN ERVK-6 Endogenous retrovirus group K member 6 Rec protein 105 11.8 Cytoplasm; Nucleus 0 0 0 1 5 2004-05-24 Q6AI14 SL9A4_HUMAN SLC9A4 Sodium/hydrogen exchanger 4 798 89.8 2 Basolateral cell membrane; Apical cell membrane; Zymogen granule membrane 10 0 0 1 5 2008-01-15 Q6DN72 FCRL6_HUMAN FCRL6 Fc receptor-like protein 6 434 47.7 1 Cell membrane 1 0 0 1 5 2007-03-20 Q6EMB2 TTLL5_HUMAN TTLL5 Tubulin polyglutamylase TTLL5 1281 143.6 14 6.3.2.- Cell projection; Cytoplasm; Nucleus 0 1 Cone-rod dystrophy 19 0 1 5 2006-02-21 Q6GMV2 SMYD5_HUMAN SMYD5 Protein-lysine N-trimethyltransferase SMYD5 418 47.3 2 2.1.1.- Cytoplasm 0 0 0 1 5 2006-03-21 Q6GYQ0 RGPA1_HUMAN RALGAPA1 Ral GTPase-activating protein subunit alpha-1 2036 229.8 14 Cytoplasm; Nucleus 0 1 Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 0 1 5 2004-08-16 Q6IA17 SIGIR_HUMAN SIGIRR Single Ig IL-1-related receptor 410 45.7 11 Membrane 1 0 0 1 5 2005-09-27 Q6ICB4 SESQ2_HUMAN PHETA2 Sesquipedalian-2 259 28.3 22 Early endosome; Recycling endosome; Golgi apparatus; Cytoplasmic vesicle 0 0 0 1 5 2006-10-31 Q6IN84 MRM1_HUMAN MRM1 rRNA methyltransferase 1, mitochondrial 353 38.6 17 2.1.1.- Mitochondrion matrix 0 0 0 1 5 2007-01-23 Q6IQ26 DEN5A_HUMAN DENND5A DENN domain-containing protein 5A 1287 147.1 11 Golgi apparatus membrane 0 1 Developmental and epileptic encephalopathy 49 0 1 5 2004-09-13 Q6IWH7 ANO7_HUMAN ANO7 Anoctamin-7 933 105.5 2 Cell membrane; Cell junction; Endoplasmic reticulum 8 0 0 1 5 2007-05-29 Q6NSW7 NANP8_HUMAN NANOGP8 Homeobox protein NANOGP8 305 34.7 15 Nucleus 0 0 0 2 5 2006-11-28 Q6NUI2 GPAT2_HUMAN GPAT2 Glycerol-3-phosphate acyltransferase 2, mitochondrial 795 87.8 2 2.3.1.15 Mitochondrion outer membrane 2 0 0 1 5 2008-03-18 Q6NUI6 CHADL_HUMAN CHADL Chondroadherin-like protein 762 82.4 22 Secreted 0 0 0 1 5 2007-09-11 Q6NVH7 SWAP1_HUMAN SWSAP1 ATPase SWSAP1 250 26.6 19 3.6.4.- Chromosome; Nucleus 0 0 0 1 5 2007-07-10 Q6NW34 RMP64_HUMAN RMP64 Ribonuclease MRP subunit P64 567 64.6 3 Nucleus 0 1 Anauxetic dysplasia 3 0 1 5 2006-03-07 Q6P1W5 CA094_HUMAN C1orf94 Uncharacterized protein C1orf94 598 65.4 1 0 0 0 1 5 2007-03-06 Q6P2D0 ZFP1_HUMAN ZFP1 Zinc finger protein 1 homolog 407 47.5 16 Nucleus 0 0 0 1 5 2005-02-01 Q6P2D8 XRRA1_HUMAN XRRA1 X-ray radiation resistance-associated protein 1 792 89.9 11 Cytoplasm; Nucleus 0 0 0 1 5 2008-02-05 Q6P4A8 LYLAP_HUMAN PLBD1 Lysosomal leucine aminopeptidase 553 63.3 12 3.4.11.- Lysosome 0 0 0 1 5 2007-05-01 Q6P4F1 OFUT3_HUMAN POFUT3 GDP-fucose protein O-fucosyltransferase 3 479 56.1 8 2.4.1.221 Endoplasmic reticulum membrane 1 0 0 1 5 2007-08-21 Q6PCB0 VWA1_HUMAN VWA1 von Willebrand factor A domain-containing protein 1 445 46.8 1 Secreted 0 1 Neuronopathy, hereditary motor, autosomal recessive 7 0 1 5 2007-10-23 Q6PGN9 PSRC1_HUMAN PSRC1 Proline/serine-rich coiled-coil protein 1 363 38.8 1 Cytoplasm 0 0 0 1 5 2007-01-23 Q6PIU1 KCNV1_HUMAN KCNV1 Potassium voltage-gated channel subfamily V member 1 500 56.3 8 Cell membrane 6 0 0 1 5 2007-10-23 Q6PIU2 NCEH1_HUMAN NCEH1 Neutral cholesterol ester hydrolase 1 408 45.8 3 3.1.1.- Cell membrane; Microsome 1 0 0 1 5 2006-12-12 Q6PJT7 ZC3HE_HUMAN ZC3H14 Zinc finger CCCH domain-containing protein 14 736 82.9 14 Nucleus speckle 0 1 Intellectual developmental disorder, autosomal recessive 56 0 1 5 2008-04-29 Q6Q759 SPG17_HUMAN SPAG17 Sperm-associated antigen 17 2223 251.7 1 Cytoplasm; Cytoplasmic vesicle; Golgi apparatus 0 1 Spermatogenic failure 55 0 1 5 2008-04-29 Q6RFH8 DUX4C_HUMAN DUX4L9 Double homeobox protein 4C 374 39.4 Nucleus; Cytoplasm 0 0 0 1 5 2011-03-08 Q6S5L8 SHC4_HUMAN SHC4 SHC-transforming protein 4 630 68.8 15 Postsynaptic cell membrane 0 0 0 1 5 2008-05-20 Q6SJ93 F111B_HUMAN FAM111B Serine protease FAM111B 734 84.7 11 3.4.21.- 0 1 Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 0 1 5 2007-02-06 Q6TCH7 PAQR3_HUMAN PAQR3 Progestin and adipoQ receptor family member 3 311 36.2 4 Golgi apparatus membrane 7 0 0 1 5 2004-08-31 Q6TFL4 KLH24_HUMAN KLHL24 Kelch-like protein 24 600 68.4 3 Perikaryon; Cell projection; Cytoplasm; Cell junction 0 2 Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies 0 1 5 2006-11-28 Q6U736 OPN5_HUMAN OPN5 Opsin-5 354 39.7 6 Cell membrane 7 0 0 2 5 2005-06-07 Q6UB35 C1TM_HUMAN MTHFD1L Monofunctional C1-tetrahydrofolate synthase, mitochondrial 978 105.8 6 6.3.4.3 Mitochondrion 0 0 0 1 5 2008-07-01 Q6ULP2 AFTIN_HUMAN AFTPH Aftiphilin 936 102.1 2 Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 2005-03-29 Q6UWE0 LRSM1_HUMAN LRSAM1 E3 ubiquitin-protein ligase LRSAM1 723 83.6 9 2.3.2.27 Cytoplasm 0 1 Charcot-Marie-Tooth disease, axonal, type 2P 0 1 5 2005-02-01 Q6UWF3 SCIMP_HUMAN SCIMP SLP adapter and CSK-interacting membrane protein 145 16.6 17 Cell membrane; Cytoplasmic vesicle; Cell projection 1 0 0 1 5 2007-07-10 Q6UWJ1 SL9D1_HUMAN SLC9D1 Solute carrier family 9 member D1 677 75.6 13 Golgi apparatus membrane; Cell membrane 10 0 0 1 5 2006-10-03 Q6UWP7 LCLT1_HUMAN LCLAT1 Lysocardiolipin acyltransferase 1 414 48.9 2 2.3.1.- Endoplasmic reticulum membrane 4 0 0 1 5 2007-06-26 Q6UX15 LAYN_HUMAN LAYN Layilin 382 43.1 11 Membrane 1 0 0 1 5 2006-11-28 Q6UX27 VSTM1_HUMAN VSTM1 V-set and transmembrane domain-containing protein 1 236 26.1 19 Membrane 1 0 0 1 5 2007-01-23 Q6UXD5 SE6L2_HUMAN SEZ6L2 Seizure 6-like protein 2 910 97.6 16 Cell membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2008-05-20 Q6UXH0 ANGL8_HUMAN ANGPTL8 Angiopoietin-like protein 8 198 22.1 19 Secreted 0 2 Type 1 diabetes mellitus; Type 2 diabetes mellitus 0 1 5 2008-02-26 Q6UXS9 CASPC_HUMAN CASP12 Inactive caspase-12 341 38.9 11 0 0 0 2 5 2008-02-05 Q6UXZ3 CLM5_HUMAN CD300LD CMRF35-like molecule 5 194 21.6 17 Cell membrane 1 0 0 1 5 2008-02-26 Q6UXZ4 UNC5D_HUMAN UNC5D Netrin receptor UNC5D 953 105.9 8 Cell membrane 1 0 0 1 5 2004-10-11 Q6V0L0 CP26C_HUMAN CYP26C1 Cytochrome P450 26C1 522 57.1 10 1.14.14.1 Membrane 1 1 Focal facial dermal dysplasia 4 0 1 5 2005-07-19 Q6V1P9 PCD23_HUMAN DCHS2 Protocadherin-23 3371 370.2 4 Membrane 2 0 0 1 5 2008-07-01 Q6WN34 CRDL2_HUMAN CHRDL2 Chordin-like protein 2 429 47.5 11 Secreted 0 0 0 1 5 2005-04-26 Q6X4W1 NSMF_HUMAN NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor 530 60.1 9 Nucleus; Nucleus envelope; Nucleus membrane; Nucleus matrix; Cytoplasm; Cell membrane; Cell projection; Synapse; Postsynaptic density; Membrane 0 1 Hypogonadotropic hypogonadism 9 with or without anosmia 0 1 5 2005-07-19 Q6XPS3 TPTE2_HUMAN TPTE2 Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2 522 61.1 13 3.1.3.67 Endoplasmic reticulum membrane 3 0 0 1 5 2006-02-21 Q6XUX3 DUSTY_HUMAN DSTYK Dual serine/threonine and tyrosine protein kinase 929 105.2 1 2.7.12.1 Cytoplasm; Cell membrane; Apical cell membrane; Basolateral cell membrane; Cell junction 0 2 Congenital anomalies of the kidney and urinary tract 1; Spastic paraplegia 23, autosomal recessive 0 1 5 2006-05-02 Q6XZB0 LIPI_HUMAN LIPI Lipase member I 460 52.9 21 3.1.1.- Cell membrane; Secreted 0 0 0 1 5 2005-11-08 Q6ZMP0 THSD4_HUMAN THSD4 Thrombospondin type-1 domain-containing protein 4 1018 112.5 15 Secreted 0 1 Aortic aneurysm, familial thoracic 12 0 1 5 2008-01-15 Q6ZMS7 ZN783_HUMAN ZNF783 Zinc finger protein 783 546 61 7 Nucleus 0 0 0 1 5 2007-01-09 Q6ZMZ0 RN19B_HUMAN RNF19B E3 ubiquitin-protein ligase RNF19B 732 77.9 1 2.3.2.31 Cytoplasmic granule membrane; Endoplasmic reticulum membrane 2 0 0 1 5 2005-01-04 Q6ZNB7 ALKMO_HUMAN AGMO Alkylglycerol monooxygenase 445 51.5 7 1.14.16.5 Endoplasmic reticulum membrane 5 0 0 1 5 2007-09-11 Q6ZNC8 MBOA1_HUMAN MBOAT1 Membrane-bound glycerophospholipid O-acyltransferase 1 495 56.6 6 2.3.1.- Endoplasmic reticulum membrane 9 0 0 1 5 2007-01-23 Q6ZNE9 RUFY4_HUMAN RUFY4 RUN and FYVE domain-containing protein 4 571 64.4 2 Cytoplasmic vesicle; Lysosome 0 0 0 1 5 2007-04-17 Q6ZNH5 ZN497_HUMAN ZNF497 Zinc finger protein 497 498 54.7 19 Nucleus 0 0 0 1 5 2005-11-22 Q6ZPD8 DG2L6_HUMAN DGAT2L6 Diacylglycerol O-acyltransferase 2-like protein 6 337 38.6 X 2.3.1.- Endoplasmic reticulum membrane 2 0 0 1 5 2006-09-05 Q6ZRF8 RN207_HUMAN RNF207 RING finger protein 207 634 70.9 1 Cytoplasm 0 0 0 1 5 2007-09-11 Q6ZRI0 OTOG_HUMAN OTOG Otogelin 2925 314.8 11 Apical cell membrane; Secreted 0 1 Deafness, autosomal recessive, 18B 0 1 5 2007-12-04 Q6ZRQ5 MMS22_HUMAN MMS22L Protein MMS22-like 1243 142.3 6 Nucleus; Chromosome 0 0 0 1 5 2006-11-28 Q6ZS10 CL17A_HUMAN CLEC17A C-type lectin domain family 17, member A 378 42.9 19 Membrane 1 0 0 1 5 2008-02-26 Q6ZSM3 MOT12_HUMAN SLC16A12 Monocarboxylate transporter 12 516 56.5 10 Cell membrane; Basolateral cell membrane 12 1 Cataract 47 0 1 5 2007-05-15 Q6ZTW0 TPGS1_HUMAN TPGS1 Tubulin polyglutamylase complex subunit 1 290 31.3 19 Cytoplasm; Cell projection 0 0 0 1 5 2006-09-05 Q6ZW61 BBS12_HUMAN BBS12 Chaperonin-containing T-complex member BBS12 710 79.1 4 Cell projection 0 1 Bardet-Biedl syndrome 12 0 1 5 2007-09-11 Q6ZWK4 RHEX_HUMAN RHEX Regulator of hemoglobinization and erythroid cell expansion protein 172 19.4 1 Cell membrane 1 0 0 1 5 2007-01-09 Q70EL3 UBP50_HUMAN USP50 Ubiquitin carboxyl-terminal hydrolase 50 339 39 15 3.4.19.12 Cytoplasm; Nucleus 0 0 0 1 5 2006-09-19 Q70IA6 MOB2_HUMAN MOB2 MOB kinase activator 2 237 26.9 11 Nucleus; Cytoplasm 0 0 0 1 5 2004-12-21 Q70YC5 ZN365_HUMAN ZNF365 Protein ZNF365 407 46.5 10 Cytoplasm 0 0 0 1 5 2005-12-20 Q71F56 MD13L_HUMAN MED13L Mediator of RNA polymerase II transcription subunit 13-like 2210 242.6 12 Nucleus 0 1 Impaired intellectual development and distinctive facial features with or without cardiac defects 0 1 5 2005-12-06 Q75V66 ANO5_HUMAN ANO5 Anoctamin-5 913 107.2 11 Endoplasmic reticulum membrane; Cell membrane 8 3 Gnathodiaphyseal dysplasia; Muscular dystrophy, limb-girdle, autosomal recessive 12; Miyoshi muscular dystrophy 3 0 1 5 2005-09-13 Q76EJ3 S35D2_HUMAN SLC35D2 Nucleotide sugar transporter SLC35D2 337 36.7 9 Golgi apparatus membrane 8 0 0 1 5 2008-01-15 Q76FK4 NOL8_HUMAN NOL8 Nucleolar protein 8 1167 131.6 9 Nucleus 0 0 0 1 5 2006-06-13 Q7L190 DPPA4_HUMAN DPPA4 Developmental pluripotency-associated protein 4 304 33.5 3 Nucleus 0 0 0 1 5 2006-05-30 Q7L2R6 ZN765_HUMAN ZNF765 Zinc finger protein 765 523 61.6 19 Nucleus 0 0 0 1 5 2008-07-22 Q7L3B6 CD37L_HUMAN CDC37L1 Hsp90 co-chaperone Cdc37-like 1 337 38.8 9 Cytoplasm 0 0 0 1 5 2008-02-26 Q7L3V2 BOP_HUMAN RTL10 Protein Bop 364 39.3 22 Mitochondrion 0 0 0 1 5 2007-07-24 Q7L8J4 3BP5L_HUMAN SH3BP5L SH3 domain-binding protein 5-like 393 43.5 1 0 0 0 1 5 2008-02-05 Q7L8S5 OTU6A_HUMAN OTUD6A OTU domain-containing protein 6A 288 33.3 X 3.4.19.12 0 0 0 1 5 2006-01-24 Q7RTU3 OLIG3_HUMAN OLIG3 Oligodendrocyte transcription factor 3 272 29.4 6 Nucleus 0 0 0 1 5 2004-08-31 Q7RTU4 BHA09_HUMAN BHLHA9 Class A basic helix-loop-helix protein 9 235 24.1 17 Nucleus; Cytoplasm 0 3 Split-hand/foot malformation with long bone deficiency 3; Syndactyly, mesoaxial synostotic, with phalangeal reduction; Camptosynpolydactyly, complex 0 1 5 2008-06-10 Q7Z3E5 ARMC9_HUMAN ARMC9 LisH domain-containing protein ARMC9 818 91.8 2 Cytoplasm; Cell projection 0 1 Joubert syndrome 30 0 1 5 2007-03-20 Q7Z3I7 ZN572_HUMAN ZNF572 Zinc finger protein 572 529 61.2 8 Nucleus 0 0 0 1 5 2006-10-03 Q7Z3Q1 S46A3_HUMAN SLC46A3 Lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3 461 51.5 13 Lysosome membrane 11 0 0 1 5 2007-10-23 Q7Z3S7 CA2D4_HUMAN CACNA2D4 Voltage-dependent calcium channel subunit alpha-2/delta-4 1137 127.9 12 Membrane 1 1 Retinal cone dystrophy 4 0 1 5 2007-09-11 Q7Z3S9 NT2NA_HUMAN NOTCH2NLA Notch homolog 2 N-terminal-like protein A 236 25.8 1 Secreted; Cytoplasm 0 0 0 1 5 2008-05-20 Q7Z3Y8 K1C27_HUMAN KRT27 Keratin, type I cytoskeletal 27 459 49.8 17 Cytoplasm 0 0 0 1 5 2007-12-04 Q7Z3Y9 K1C26_HUMAN KRT26 Keratin, type I cytoskeletal 26 468 51.9 17 0 0 0 1 5 2007-12-04 Q7Z3Z4 PIWL4_HUMAN PIWIL4 Piwi-like protein 4 852 96.6 11 Nucleus; Cytoplasm 0 0 0 1 5 2006-05-16 Q7Z403 TMC6_HUMAN TMC6 Transmembrane channel-like protein 6 805 90 17 Endoplasmic reticulum membrane; Golgi apparatus membrane; Nucleus membrane 10 1 Epidermodysplasia verruciformis 1 0 1 5 2005-12-06 Q7Z410 TMPS9_HUMAN TMPRSS9 Transmembrane protease serine 9 1059 114 19 3.4.21.- Cell membrane 1 0 0 1 5 2005-03-15 Q7Z418 KCNKI_HUMAN KCNK18 Potassium channel subfamily K member 18 384 43.7 10 Cell membrane 4 1 Migraine with or without aura 13 0 1 5 2007-12-04 Q7Z419 R144B_HUMAN RNF144B E3 ubiquitin-protein ligase RNF144B 303 33.7 6 2.3.2.31 Mitochondrion membrane; Cytoplasm 1 0 0 1 5 2005-01-04 Q7Z4G4 TRM11_HUMAN TRMT11 tRNA (guanine(10)-N(2))-methyltransferase TRMT11 463 53.4 6 2.1.1.214 Cytoplasm 0 0 0 1 5 2006-04-04 Q7Z4K8 TRI46_HUMAN TRIM46 Tripartite motif-containing protein 46 759 83.4 1 Cell projection; Cytoplasm 0 0 0 1 5 2004-11-23 Q7Z4N8 P4HA3_HUMAN P4HA3 Prolyl 4-hydroxylase subunit alpha-3 544 61.1 11 1.14.11.2 Endoplasmic reticulum lumen 0 0 0 1 5 2008-02-05 Q7Z4V0 ZN438_HUMAN ZNF438 Zinc finger protein 438 828 91.8 10 Nucleus 0 0 0 1 5 2006-07-11 Q7Z591 AKNA_HUMAN AKNA Microtubule organization protein AKNA 1439 155.1 9 Cytoplasm; Nucleus 0 0 0 1 5 2007-05-29 Q7Z5P9 MUC19_HUMAN MUC19 Mucin-19 8384 805.3 Secreted 0 0 0 1 5 2008-07-01 Q7Z614 SNX20_HUMAN SNX20 Sorting nexin-20 316 36.2 16 Early endosome membrane; Cell membrane; Cytoplasm; Nucleus 0 0 0 1 5 2008-03-18 Q7Z6M3 MILR1_HUMAN MILR1 Allergin-1 343 38.7 17 Cell membrane 1 0 0 1 5 2007-10-23 Q7Z7M0 MEGF8_HUMAN MEGF8 Multiple epidermal growth factor-like domains protein 8 2845 303.1 19 Membrane 1 1 Carpenter syndrome 2 0 1 5 2004-04-13 Q86SJ2 AMGO2_HUMAN AMIGO2 Amphoterin-induced protein 2 522 57.9 12 Cell membrane; Nucleus 1 0 0 1 5 2005-06-21 Q86SK9 SCD5_HUMAN SCD5 Stearoyl-CoA desaturase 5 330 37.6 4 1.14.19.1 Endoplasmic reticulum membrane 4 1 Deafness, autosomal dominant, 79 0 1 5 2007-12-04 Q86UD4 ZN329_HUMAN ZNF329 Zinc finger protein 329 541 61.7 19 Nucleus 0 0 0 1 5 2007-10-23 Q86UE6 LRRT1_HUMAN LRRTM1 Leucine-rich repeat transmembrane neuronal protein 1 522 58.6 2 Cell membrane; Postsynaptic cell membrane 1 0 0 1 5 2005-06-21 Q86UL3 GPAT4_HUMAN GPAT4 Glycerol-3-phosphate acyltransferase 4 456 52.1 8 2.3.1.15 Endoplasmic reticulum membrane 2 0 0 1 5 2005-06-21 Q86UP2 KTN1_HUMAN KTN1 Kinectin 1357 156.3 14 Endoplasmic reticulum membrane 1 0 0 1 5 2003-08-15 Q86V42 F124A_HUMAN FAM124A Protein FAM124A 546 60.1 13 0 0 0 1 5 2007-05-01 Q86VD7 S2542_HUMAN SLC25A42 Mitochondrial coenzyme A transporter SLC25A42 318 35.4 19 Mitochondrion inner membrane 6 1 Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 0 1 5 2007-06-26 Q86VH2 KIF27_HUMAN KIF27 Kinesin-like protein KIF27 1401 160.3 9 Cytoplasm; Cell projection 0 0 0 1 5 2007-10-23 Q86VI4 LAP4B_HUMAN LAPTM4B Lysosomal-associated transmembrane protein 4B 317 35.1 8 Endomembrane system; Late endosome membrane; Cell membrane; Cell projection; Lysosome membrane; Endosome membrane; Endosome 4 0 0 1 5 2006-09-19 Q86VV8 RTTN_HUMAN RTTN Rotatin 2226 248.6 18 Cytoplasm 0 1 Microcephaly, short stature, and polymicrogyria with or without seizures 0 1 5 2007-10-23 Q86VW1 S22AG_HUMAN SLC22A16 Solute carrier family 22 member 16 577 64.6 6 Cell membrane 12 0 0 1 5 2008-02-26 Q86W92 LIPB1_HUMAN PPFIBP1 Liprin-beta-1 1011 114 12 Cytoplasm 0 1 Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities 0 1 5 2004-02-16 Q86WA8 LONP2_HUMAN LONP2 Lon protease homolog 2, peroxisomal 852 94.6 16 3.4.21.53 Peroxisome matrix 0 0 0 1 5 2007-05-15 Q86WG5 MTMRD_HUMAN SBF2 Myotubularin-related protein 13 1849 208.5 11 Cytoplasm; Membrane; Endosome membrane; Cell projection 0 1 Charcot-Marie-Tooth disease, demyelinating, type 4B2 0 1 5 2006-02-07 Q86WU2 LDHD_HUMAN LDHD D-lactate dehydrogenase, mitochondrial 507 54.9 16 1.1.98.- Mitochondrion 0 1 D-lactic aciduria with gout 0 1 5 2006-11-28 Q86X76 NIT1_HUMAN NIT1 Deaminated glutathione amidase 327 35.9 1 3.5.1.128 Mitochondrion 0 1 Brain small vessel disease 4 0 1 5 2004-07-05 Q86XF0 DYR2_HUMAN DHFR2 Dihydrofolate reductase 2, mitochondrial 187 21.6 3 Mitochondrion; Mitochondrion matrix; Mitochondrion inner membrane 0 0 0 1 5 2005-12-20 Q86XL3 ANKL2_HUMAN ANKLE2 Ankyrin repeat and LEM domain-containing protein 2 938 104.1 12 Endoplasmic reticulum membrane 1 1 Microcephaly 16, primary, autosomal recessive 0 1 5 2007-03-20 Q86XQ3 CTSR3_HUMAN CATSPER3 Cation channel sperm-associated protein 3 398 46.4 5 Cell projection 6 0 0 1 5 2007-07-24 Q86Y25 Z354C_HUMAN ZNF354C Zinc finger protein 354C 554 64.8 5 Nucleus; Nucleus membrane; Cytoplasm 0 0 0 1 5 2007-03-20 Q86YA3 ZGRF1_HUMAN ZGRF1 5'-3' DNA helicase ZGRF1 2104 236.6 4 5.6.2.3 Nucleus 0 0 0 1 5 2007-05-15 Q86YD3 TMM25_HUMAN TMEM25 Transmembrane protein 25 366 39.3 11 Late endosome; Lysosome 1 0 0 1 5 2005-03-01 Q8IUC8 GLT13_HUMAN GALNT13 Polypeptide N-acetylgalactosaminyltransferase 13 556 64.1 2 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q8IUH8 SPP2C_HUMAN SPPL2C Signal peptide peptidase-like 2C 684 74.5 17 3.4.23.- Endoplasmic reticulum membrane 9 0 0 1 5 2008-01-15 Q8IUM7 NPAS4_HUMAN NPAS4 Neuronal PAS domain-containing protein 4 802 87.1 11 Nucleus 0 0 0 1 5 2006-09-05 Q8IUZ0 LRC49_HUMAN LRRC49 Leucine-rich repeat-containing protein 49 686 78.9 15 Cytoplasm 0 0 0 1 5 2006-04-18 Q8IV61 GRP3_HUMAN RASGRP3 Ras guanyl-releasing protein 3 690 78.3 2 0 0 0 1 5 2003-08-29 Q8IVF7 FMNL3_HUMAN FMNL3 Formin-like protein 3 1028 117.2 12 Cytoplasm; Cell membrane 0 0 0 1 5 2007-05-29 Q8IWI9 MGAP_HUMAN MGA MAX gene-associated protein 3065 336.2 15 Nucleus 0 1 Premature ovarian failure 26 0 1 5 2008-07-01 Q8IWQ3 BRSK2_HUMAN BRSK2 Serine/threonine-protein kinase BRSK2 736 81.6 11 2.7.11.1 Cytoplasm; Endoplasmic reticulum 0 0 0 1 5 2003-08-29 Q8IWV2 CNTN4_HUMAN CNTN4 Contactin-4 1026 113.5 3 Cell membrane; Secreted 0 0 0 1 5 2004-11-23 Q8IWW6 RHG12_HUMAN ARHGAP12 Rho GTPase-activating protein 12 846 96.3 10 0 0 0 1 5 2004-05-10 Q8IWW8 HOT_HUMAN ADHFE1 Hydroxyacid-oxoacid transhydrogenase, mitochondrial 467 50.3 8 1.1.99.24 Mitochondrion 0 0 0 1 5 2008-03-18 Q8IWY4 SCUB1_HUMAN SCUBE1 Signal peptide, CUB and EGF-like domain-containing protein 1 988 107.9 22 Secreted; Cell membrane 0 0 0 1 5 2006-10-31 Q8IWZ3 ANKH1_HUMAN ANKHD1 Ankyrin repeat and KH domain-containing protein 1 2542 269.5 5 Cytoplasm 0 0 0 1 5 2007-10-02 Q8IXA5 SACA3_HUMAN SPACA3 Sperm acrosome membrane-associated protein 3 215 23.4 17 Cytoplasmic vesicle 1 0 0 1 5 2006-10-31 Q8IXB3 TARG1_HUMAN TRARG1 Trafficking regulator of GLUT4 1 177 19.3 17 Cell membrane; Endomembrane system; Cytoplasm 1 0 0 1 5 2006-12-12 Q8IXF0 NPAS3_HUMAN NPAS3 Neuronal PAS domain-containing protein 3 933 100.8 14 Nucleus 0 0 0 1 5 2003-11-28 Q8IXU6 S35F2_HUMAN SLC35F2 Queuine/queuosine transporter SLC35F2 374 41.2 11 Cell membrane; Golgi apparatus membrane 10 0 0 1 5 2007-10-23 Q8IXZ2 ZC3H3_HUMAN ZC3H3 Zinc finger CCCH domain-containing protein 3 948 101.9 8 Nucleus 0 0 0 1 5 2004-05-10 Q8IY17 PLPL6_HUMAN PNPLA6 Patatin-like phospholipase domain-containing protein 6 1375 151 19 3.1.1.5 Endoplasmic reticulum membrane 1 4 Spastic paraplegia 39, autosomal recessive; Boucher-Neuhauser syndrome; Laurence-Moon syndrome; Oliver-McFarlane syndrome 0 1 5 2007-06-26 Q8IY21 DDX60_HUMAN DDX60 Probable ATP-dependent RNA helicase DDX60 1712 197.9 4 3.6.4.13 Cytoplasm 0 0 0 1 5 2008-02-05 Q8IY63 AMOL1_HUMAN AMOTL1 Angiomotin-like protein 1 956 106.6 11 Cell junction 0 1 Craniofaciocardiohepatic syndrome 0 1 5 2005-09-27 Q8IY95 TM192_HUMAN TMEM192 Transmembrane protein 192 271 30.9 4 Lysosome membrane; Late endosome 4 0 0 1 5 2007-11-13 Q8IYB4 PEX5R_HUMAN PEX5L PEX5-related protein 626 69.7 3 Cytoplasm; Membrane 0 0 0 1 5 2004-05-24 Q8IYI6 EXOC8_HUMAN EXOC8 Exocyst complex component 8 725 81.8 1 Cytoplasm; Cell projection 0 1 Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy 0 1 5 2006-03-21 Q8IYI8 ZN440_HUMAN ZNF440 Zinc finger protein 440 595 69.1 19 Nucleus 0 0 0 1 5 2003-05-09 Q8IYJ0 PIANP_HUMAN PIANP PILR alpha-associated neural protein 282 30.1 12 Membrane 1 0 0 1 5 2007-05-01 Q8IYJ2 CJ067_HUMAN C10orf67 Uncharacterized protein C10orf67, mitochondrial 551 63.7 10 Mitochondrion 0 0 0 1 5 2005-08-16 Q8IYR2 SMYD4_HUMAN SMYD4 Protein-lysine N-methyltransferase SMYD4 804 89.2 17 2.1.1.- Nucleus; Cytoplasm 0 0 0 1 5 2006-03-21 Q8IYR6 TEFF1_HUMAN TMEFF1 Tomoregulin-1 380 40.9 9 Cell membrane 1 0 0 1 5 2007-05-01 Q8IYT4 KATL2_HUMAN KATNAL2 Katanin p60 ATPase-containing subunit A-like 2 538 61.3 18 5.6.1.1 Cytoplasm 0 0 0 1 5 2008-05-20 Q8IYX1 TBC21_HUMAN TBC1D21 TBC1 domain family member 21 336 39.2 15 Cytoplasmic vesicle; Cytoplasm 0 0 0 1 5 2005-02-15 Q8IZC4 RTKN2_HUMAN RTKN2 Rhotekin-2 609 69.3 10 0 0 0 1 5 2007-11-13 Q8IZC6 CORA1_HUMAN COL27A1 Collagen alpha-1(XXVII) chain 1860 186.9 9 Secreted 0 1 Steel syndrome 0 1 5 2008-01-15 Q8IZF3 AGRF4_HUMAN ADGRF4 Adhesion G protein-coupled receptor F4 695 77.7 6 Membrane 7 0 0 1 5 2005-02-15 Q8IZP1 TBC3A_HUMAN TBC1D3 TBC1 domain family member 3 549 62.2 17 Cell membrane 0 0 0 1 5 2003-10-03 Q8IZR5 CKLF4_HUMAN CMTM4 CKLF-like MARVEL transmembrane domain-containing protein 4 234 25.8 16 Membrane 4 0 0 1 5 2003-09-19 Q8J025 APCD1_HUMAN APCDD1 Protein APCDD1 514 58.8 18 Cell membrane 1 1 Hypotrichosis 1 0 1 5 2006-03-07 Q8N0Y2 ZN444_HUMAN ZNF444 Zinc finger protein 444 327 35.2 19 Nucleus 0 0 0 1 5 2003-11-07 Q8N0Z8 PUSL1_HUMAN PUSL1 tRNA pseudouridine synthase-like 1 303 33.2 1 5.4.99.12 Mitochondrion matrix; Mitochondrion inner membrane 0 0 0 1 5 2004-09-27 Q8N114 SHSA5_HUMAN SHISA5 Protein shisa-5 240 25.6 3 Endoplasmic reticulum membrane; Nucleus membrane 1 0 0 1 5 2007-12-04 Q8N139 ABCA6_HUMAN ABCA6 ATP-binding cassette sub-family A member 6 1617 184.3 17 7.6.2.- Golgi apparatus membrane 14 0 0 1 5 2006-10-03 Q8N187 CARTF_HUMAN CARF Calcium-responsive transcription factor 725 80.7 2 Nucleus 0 0 0 1 5 2006-01-10 Q8N1I0 DOCK4_HUMAN DOCK4 Dedicator of cytokinesis protein 4 1966 225.2 7 Cell membrane; Cell projection; Cytoplasm 0 0 0 1 5 2003-07-03 Q8N1M1 BEST3_HUMAN BEST3 Bestrophin-3 668 76.1 12 Cell membrane 4 0 0 1 5 2003-11-21 Q8N2H9 PELI3_HUMAN PELI3 E3 ubiquitin-protein ligase pellino homolog 3 469 50.8 11 2.3.2.27 0 0 0 1 5 2003-10-24 Q8N2U9 S66A2_HUMAN SLC66A2 Solute carrier family 66 member 2 271 30.5 18 Membrane 6 0 0 1 5 2007-04-03 Q8N2W9 PIAS4_HUMAN PIAS4 E3 SUMO-protein ligase PIAS4 510 56.5 19 2.3.2.27 Nucleus 0 0 0 1 5 2003-09-19 Q8N344 MIER2_HUMAN MIER2 Mesoderm induction early response protein 2 545 59.9 19 Nucleus 0 0 0 1 5 2008-01-15 Q8N414 PGBD5_HUMAN PGBD5 PiggyBac transposable element-derived protein 5 524 58.5 1 3.1.-.- Nucleus 0 1 Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity 0 1 5 2007-05-29 Q8N474 SFRP1_HUMAN SFRP1 Secreted frizzled-related protein 1 314 35.4 8 Secreted 0 0 0 1 5 2005-03-15 Q8N4F4 S22AO_HUMAN SLC22A24 Steroid transmembrane transporter SLC22A24 552 61.7 11 Cell membrane 12 0 0 1 5 2008-02-05 Q8N556 AFAP1_HUMAN AFAP1 Actin filament-associated protein 1 730 80.7 4 Cytoplasm 0 0 0 1 5 2008-02-05 Q8N5I4 DHRSX_HUMAN DHRSX Polyprenol dehydrogenase 330 36.4 X 1.1.1.441 Lipid droplet; Secreted 0 1 Congenital disorder of glycosylation 1DD 0 1 5 2003-07-03 Q8N5P1 ZC3H8_HUMAN ZC3H8 Zinc finger CCCH domain-containing protein 8 291 33.6 2 Nucleus 0 0 0 1 5 2004-05-10 Q8N5V2 NGEF_HUMAN NGEF Ephexin-1 710 82.5 2 Cytoplasm; Membrane; Cell projection 0 0 0 1 5 2006-09-05 Q8N680 ZBTB2_HUMAN ZBTB2 Zinc finger and BTB domain-containing protein 2 514 57.3 6 Nucleus 0 0 0 1 5 2003-04-30 Q8N6C5 IGSF1_HUMAN IGSF1 Immunoglobulin superfamily member 1 1336 148.9 X Membrane 2 1 Hypothyroidism, central, and testicular enlargement 0 1 5 2008-02-05 Q8N6D2 RN182_HUMAN RNF182 E3 ubiquitin-protein ligase RNF182 247 27.4 6 2.3.2.27 Membrane; Cytoplasm 2 0 0 1 5 2006-11-28 Q8N6F7 GCSAM_HUMAN GCSAM Germinal center-associated signaling and motility protein 178 21 3 Cytoplasm; Cell membrane 0 0 0 1 5 2006-10-31 Q8N6R1 SERP2_HUMAN SERP2 Stress-associated endoplasmic reticulum protein 2 65 7.4 13 Membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2007-02-06 Q8N6S4 AN13C_HUMAN ANKRD13C Ankyrin repeat domain-containing protein 13C 541 60.8 1 Endoplasmic reticulum membrane 0 0 0 1 5 2006-06-27 Q8N6Y0 USBP1_HUMAN USHBP1 Harmonin-binding protein USHBP1 703 76.1 19 0 0 0 1 5 2006-10-03 Q8N7B6 PACRL_HUMAN PACRGL PACRG-like protein 248 27.2 4 0 0 0 1 5 2007-02-20 Q8N9B5 JMY_HUMAN JMY Junction-mediating and -regulatory protein 988 111.4 5 Nucleus; Cytoplasmic vesicle; Cytoplasm; Endomembrane system 0 0 0 1 5 2008-03-18 Q8N9E0 F133A_HUMAN FAM133A Protein FAM133A 248 28.9 X 0 0 0 1 5 2007-05-15 Q8N9I5 FADS6_HUMAN FADS6 Fatty acid desaturase 6 368 41.8 17 1.14.19.- Membrane 6 0 0 1 5 2008-06-10 Q8N9M5 TM102_HUMAN TMEM102 Transmembrane protein 102 508 54.2 17 Cell membrane 1 0 0 1 5 2006-12-12 Q8NA61 CBY2_HUMAN CBY2 Protein chibby homolog 2 448 51.6 13 0 0 0 1 5 2007-10-23 Q8NA82 MARHA_HUMAN MARCHF10 Probable E3 ubiquitin-protein ligase MARCHF10 808 90.5 17 2.3.2.27 0 0 0 1 5 2006-11-28 Q8NAG6 ANKL1_HUMAN ANKLE1 Structure-specific endonuclease ANKLE1 615 66.9 19 Cytoplasm; Nucleus; Midbody 0 0 0 1 5 2006-06-27 Q8NAN2 MIGA1_HUMAN MIGA1 Mitoguardin 1 632 71 1 Mitochondrion outer membrane 1 0 0 1 5 2007-05-01 Q8NB59 SYT14_HUMAN SYT14 Synaptotagmin-14 555 62.3 1 Membrane 1 1 Spinocerebellar ataxia, autosomal recessive, 11 0 1 5 2004-09-27 Q8NBM4 UBAC2_HUMAN UBAC2 Ubiquitin-associated domain-containing protein 2 344 39 13 Endoplasmic reticulum membrane 3 0 0 1 5 2007-03-20 Q8NBZ0 IN80E_HUMAN INO80E INO80 complex subunit E 244 26.5 16 Nucleus 0 0 0 1 5 2006-05-16 Q8NCB2 CAMKV_HUMAN CAMKV CaM kinase-like vesicle-associated protein 501 54.4 3 Cell membrane; Cytoplasmic vesicle membrane 0 0 0 1 5 2006-09-19 Q8NCK7 MOT11_HUMAN SLC16A11 Monocarboxylate transporter 11 447 45 17 Endoplasmic reticulum membrane; Cell membrane 12 1 Type 2 diabetes mellitus 0 1 5 2007-05-15 Q8NCP5 ZBT44_HUMAN ZBTB44 Zinc finger and BTB domain-containing protein 44 570 63.9 11 Nucleus 0 0 0 1 5 2007-02-06 Q8NCR0 B3GL2_HUMAN B3GALNT2 UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 500 56.7 1 2.4.1.313 Golgi apparatus membrane; Endoplasmic reticulum 1 1 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 0 1 5 2006-09-05 Q8NCU7 C2C4A_HUMAN C2CD4A C2 calcium-dependent domain-containing protein 4A 369 39.7 15 Nucleus 0 0 0 1 5 2008-03-18 Q8NCU8 MTLN_HUMAN MTLN Mitoregulin 56 6.5 2 Mitochondrion inner membrane 1 0 0 1 5 2008-05-20 Q8NCW6 GLT11_HUMAN GALNT11 Polypeptide N-acetylgalactosaminyltransferase 11 608 68.9 7 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q8NDP4 ZN439_HUMAN ZNF439 Zinc finger protein 439 499 58.4 19 Nucleus 0 0 0 1 5 2003-05-09 Q8NDV1 SIA7C_HUMAN ST6GALNAC3 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 305 35.4 1 2.4.3.7 Golgi apparatus membrane 1 0 0 1 5 2004-06-07 Q8NDV3 SMC1B_HUMAN SMC1B Structural maintenance of chromosomes protein 1B 1235 143.8 22 Nucleus; Chromosome 0 0 0 1 5 2003-03-25 Q8NE09 RGS22_HUMAN RGS22 Regulator of G protein signaling 22 1264 147.2 8 Cytoplasm; Nucleus 0 0 0 1 5 2007-01-09 Q8NE31 FA13C_HUMAN FAM13C Protein FAM13C 585 65.7 10 0 0 0 1 5 2003-04-11 Q8NE62 CHDH_HUMAN CHDH Choline dehydrogenase, mitochondrial 594 65.4 3 1.1.99.1 Mitochondrion inner membrane; Mitochondrion outer membrane 0 0 0 1 5 2004-02-16 Q8NEA9 GMCL2_HUMAN GMCL2 Germ cell-less protein-like 2 526 60.3 5 Nucleus matrix 0 0 0 1 5 2004-05-24 Q8NEE6 FXL13_HUMAN FBXL13 F-box and leucine-rich repeat protein 13 735 83.9 7 Cytoplasm 0 0 0 1 5 2005-03-15 Q8NEK8 TET5D_HUMAN TENT5D Terminal nucleotidyltransferase 5D 389 44.5 X 2.7.7.19 0 0 0 1 5 2006-11-28 Q8NET5 NFAM1_HUMAN NFAM1 NFAT activation molecule 1 270 29.7 22 Cell membrane 1 0 0 1 5 2003-08-22 Q8NF50 DOCK8_HUMAN DOCK8 Dedicator of cytokinesis protein 8 2099 238.5 9 Cytoplasm; Cell membrane; Cell projection 0 2 Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections; Intellectual developmental disorder, autosomal dominant 2 0 1 5 2003-07-03 Q8NFT6 DBF4B_HUMAN DBF4B Protein DBF4 homolog B 615 67.2 17 Nucleus 0 0 0 1 5 2008-02-05 Q8NFT8 DNER_HUMAN DNER Delta and Notch-like epidermal growth factor-related receptor 737 78.5 2 Cell membrane 1 0 0 1 5 2006-10-17 Q8NFW1 COMA1_HUMAN COL22A1 Collagen alpha-1(XXII) chain 1626 161.1 8 Secreted; Cytoplasm 0 0 0 1 5 2008-02-05 Q8NHC4 O10J5_HUMAN OR10J5 Olfactory receptor 10J5 309 34.4 1 Cell membrane 7 0 0 1 5 2003-10-10 Q8NHG8 ZNRF2_HUMAN ZNRF2 E3 ubiquitin-protein ligase ZNRF2 242 24.1 7 2.3.2.27 Endosome membrane; Lysosome membrane; Presynaptic cell membrane; Cytoplasm 0 0 0 1 5 2007-02-20 Q8NHH9 ATLA2_HUMAN ATL2 Atlastin-2 583 66.2 2 3.6.5.- Endoplasmic reticulum membrane 2 0 0 1 5 2007-05-15 Q8NHS9 SPT22_HUMAN SPATA22 Spermatogenesis-associated protein 22 363 41.3 17 Chromosome; Nucleus 0 2 Spermatogenic failure 96; Premature ovarian failure 25 0 1 5 2006-10-03 Q8NHZ7 MB3L2_HUMAN MBD3L2 Methyl-CpG-binding domain protein 3-like 2 208 23 19 Nucleus 0 0 0 1 5 2004-07-19 Q8NI38 IKBD_HUMAN NFKBID NF-kappa-B inhibitor delta 313 33.5 19 Nucleus 0 0 0 1 5 2008-04-29 Q8TAG5 VTM2A_HUMAN VSTM2A V-set and transmembrane domain-containing protein 2A 236 25.8 7 Secreted 0 0 0 1 5 2004-11-23 Q8TAP6 CEP76_HUMAN CEP76 Centrosomal protein of 76 kDa 659 74.4 18 Cytoplasm 0 0 0 1 5 2005-02-15 Q8TAZ6 CKLF2_HUMAN CMTM2 CKLF-like MARVEL transmembrane domain-containing protein 2 248 27.5 16 Membrane 3 0 0 1 5 2003-09-19 Q8TB40 ABHD4_HUMAN ABHD4 (Lyso)-N-acylphosphatidylethanolamine lipase 342 38.8 14 3.1.1.- 0 0 0 1 5 2005-09-27 Q8TBB0 THAP6_HUMAN THAP6 THAP domain-containing protein 6 222 25.7 4 0 0 0 1 5 2003-04-11 Q8TBG9 SYNPR_HUMAN SYNPR Synaptoporin 265 29.2 3 Cytoplasmic vesicle; Synapse 4 0 0 1 5 2003-10-10 Q8TC07 TBC15_HUMAN TBC1D15 TBC1 domain family member 15 691 79.5 12 Cytoplasm 0 0 0 1 5 2005-02-15 Q8TC36 SUN5_HUMAN SUN5 SUN domain-containing protein 5 379 43.1 20 Nucleus inner membrane; Golgi apparatus 1 1 Spermatogenic failure 16 0 1 5 2003-01-17 Q8TC44 POC1B_HUMAN POC1B POC1 centriolar protein homolog B 478 53.7 12 Cytoplasm 0 1 Cone-rod dystrophy 20 0 1 5 2006-01-24 Q8TC92 ENOX1_HUMAN ENOX1 Ecto-NOX disulfide-thiol exchanger 1 643 73.3 13 Cell membrane; Secreted 0 0 0 1 5 2007-07-24 Q8TCC7 S22A8_HUMAN SLC22A8 Organic anion transporter 3 542 59.9 11 Basolateral cell membrane 11 0 0 1 5 2007-01-23 Q8TCQ1 MARH1_HUMAN MARCHF1 E3 ubiquitin-protein ligase MARCHF1 289 32.3 4 2.3.2.27 Golgi apparatus; Lysosome membrane; Cytoplasmic vesicle membrane; Late endosome membrane; Early endosome membrane; Cell membrane 2 0 0 1 5 2007-02-06 Q8TCX5 RHPN1_HUMAN RHPN1 Rhophilin-1 670 73.6 8 0 0 0 1 5 2003-04-23 Q8TCY9 URGCP_HUMAN URGCP Up-regulator of cell proliferation 931 105 7 Cytoplasm; Nucleus 0 0 0 1 5 2008-05-20 Q8TDB8 GTR14_HUMAN SLC2A14 Solute carrier family 2, facilitated glucose transporter member 14 520 56.3 12 Cell membrane 12 0 0 1 5 2005-07-05 Q8TDF5 NETO1_HUMAN NETO1 Neuropilin and tolloid-like protein 1 533 60.2 18 Cell membrane; Postsynaptic density membrane 1 0 0 1 5 2005-02-15 Q8TDR4 TCP1L_HUMAN TCP10L T-complex protein 10A homolog 1 215 23.9 21 Nucleus 0 0 0 1 5 2002-10-10 Q8TDW7 FAT3_HUMAN FAT3 Protocadherin Fat 3 4557 502 11 Membrane 1 0 0 1 5 2008-03-18 Q8TE02 ELP5_HUMAN ELP5 Elongator complex protein 5 300 33.2 17 Nucleus; Cytoplasm 0 0 0 1 5 2007-03-20 Q8TE57 ATS16_HUMAN ADAMTS16 A disintegrin and metalloproteinase with thrombospondin motifs 16 1224 136.2 5 3.4.24.- Secreted 0 0 0 1 5 2003-06-27 Q8TE60 ATS18_HUMAN ADAMTS18 A disintegrin and metalloproteinase with thrombospondin motifs 18 1221 135.2 16 3.4.24.- Secreted 0 1 Microcornea, myopic chorioretinal atrophy, and telecanthus 0 1 5 2003-03-25 Q8TE99 PXYP1_HUMAN PXYLP1 2-phosphoxylose phosphatase 1 480 55.2 3 3.1.3.- Golgi apparatus membrane 1 0 0 1 5 2008-01-15 Q8TEC5 SH3R2_HUMAN SH3RF2 E3 ubiquitin-protein ligase SH3RF2 729 79.3 5 2.3.2.27 Nucleus 0 0 0 1 5 2007-01-09 Q8TEY5 CR3L4_HUMAN CREB3L4 Cyclic AMP-responsive element-binding protein 3-like protein 4 395 43.4 1 Endoplasmic reticulum membrane; Golgi apparatus membrane 1 0 0 1 5 2007-05-29 Q8TF63 DCNP1_HUMAN DCANP1 Dendritic cell nuclear protein 1 244 26.7 5 Nucleus; Cytoplasm 0 0 0 1 5 2006-04-04 Q8WU03 GLYL2_HUMAN GLYATL2 Glycine N-acyltransferase-like protein 2 294 34.3 11 2.3.1.13 Endoplasmic reticulum 0 0 0 1 5 2007-04-03 Q8WU68 U2AF4_HUMAN U2AF1L4 Splicing factor U2AF 26 kDa subunit 220 25.7 19 Nucleus; Nucleus speckle; Cytoplasm 0 0 0 1 5 2007-11-13 Q8WUM9 S20A1_HUMAN SLC20A1 Sodium-dependent phosphate transporter 1 679 73.7 2 Cell membrane 10 0 0 1 5 2005-12-20 Q8WUY3 PRUN2_HUMAN PRUNE2 Protein prune homolog 2 3088 340.6 9 Cytoplasm 0 0 0 1 5 2005-07-05 Q8WV24 PHLA1_HUMAN PHLDA1 Pleckstrin homology-like domain family A member 1 401 45 12 Cytoplasm; Cytoplasmic vesicle; Nucleus 0 0 0 1 5 2005-12-20 Q8WVM8 SCFD1_HUMAN SCFD1 Sec1 family domain-containing protein 1 642 72.4 14 Cytoplasm; Endoplasmic reticulum membrane; Golgi apparatus 0 0 0 1 5 2004-08-16 Q8WVP7 LMBR1_HUMAN LMBR1 Limb region 1 protein homolog 490 55.1 7 Membrane 9 6 Preaxial polydactyly 2; Triphalangeal thumb with polysyndactyly; Acheiropody; Syndactyly 4; Hypoplasia or aplasia of tibia with polydactyly; Laurin-Sandrow syndrome 0 1 5 2006-01-10 Q8WVZ7 RN133_HUMAN RNF133 E3 ubiquitin-protein ligase RNF133 376 42.3 7 2.3.2.27 Endoplasmic reticulum membrane 1 0 0 1 5 2006-07-25 Q8WW12 PCNP_HUMAN PCNP PEST proteolytic signal-containing nuclear protein 178 18.9 3 Nucleus 0 0 0 1 5 2005-06-07 Q8WW22 DNJA4_HUMAN DNAJA4 DnaJ homolog subfamily A member 4 397 44.8 15 Membrane 0 0 0 1 5 2003-01-17 Q8WW38 FOG2_HUMAN ZFPM2 Zinc finger protein ZFPM2 1151 128.2 8 Nucleus 0 4 Tetralogy of Fallot; Diaphragmatic hernia 3; 46,XY sex reversal 9; Conotruncal heart malformations 0 1 5 2004-03-15 Q8WWB7 GLMP_HUMAN GLMP Glycosylated lysosomal membrane protein 406 43.9 1 Lysosome membrane 1 0 0 1 5 2007-04-17 Q8WWF5 ZNRF4_HUMAN ZNRF4 E3 ubiquitin-protein ligase ZNRF4 429 47 19 2.3.2.27 Endoplasmic reticulum membrane 1 0 0 1 5 2007-02-20 Q8WWG9 KCNE4_HUMAN KCNE4 Potassium voltage-gated channel subfamily E member 4 221 23.8 2 Membrane 1 0 0 1 5 2002-11-28 Q8WWH4 ASZ1_HUMAN ASZ1 Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 475 53.5 7 Cytoplasm 0 0 0 1 5 2003-09-19 Q8WXA3 RUFY2_HUMAN RUFY2 RUN and FYVE domain-containing protein 2 606 70 10 Nucleus 0 0 0 1 5 2006-07-11 Q8WXA8 5HT3C_HUMAN HTR3C 5-hydroxytryptamine receptor 3C 447 50.2 3 Postsynaptic cell membrane; Cell membrane 4 0 0 1 5 2008-01-15 Q8WXG9 AGRV1_HUMAN ADGRV1 Adhesion G protein-coupled receptor V1 6306 693.1 5 3.4.-.- Cell membrane; Cell projection; Photoreceptor inner segment 7 2 Usher syndrome 2C; Febrile seizures, familial, 4 0 1 5 2006-04-18 Q8WXH6 RB40A_HUMAN RAB40A Ras-related protein Rab-40A 277 31.1 X 3.6.5.2 Cell membrane 0 0 0 1 5 2003-01-10 Q8WXK3 ASB13_HUMAN ASB13 Ankyrin repeat and SOCS box protein 13 278 30 10 0 0 0 1 5 2002-05-10 Q8WXS8 ATS14_HUMAN ADAMTS14 A disintegrin and metalloproteinase with thrombospondin motifs 14 1223 133.9 10 3.4.24.- Secreted 0 0 0 1 5 2003-02-28 Q8WZ74 CTTB2_HUMAN CTTNBP2 Cortactin-binding protein 2 1663 181.1 7 Cytoplasm; Cell projection 0 0 0 1 5 2006-03-21 Q8WZ75 ROBO4_HUMAN ROBO4 Roundabout homolog 4 1007 107.5 11 0 1 Aortic valve disease 3 0 1 5 2004-06-21 Q92185 SIA8A_HUMAN ST8SIA1 Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase 356 40.5 12 2.4.3.8 Golgi apparatus membrane 1 0 0 1 5 1997-11-01 Q92539 LPIN2_HUMAN LPIN2 Phosphatidate phosphatase LPIN2 896 99.4 18 3.1.3.4 Nucleus; Cytoplasm; Endoplasmic reticulum membrane 0 1 Majeed syndrome 0 1 5 1997-11-01 Q92563 TICN2_HUMAN SPOCK2 Testican-2 424 46.8 10 Secreted 0 0 0 1 5 2002-10-19 Q92636 FAN_HUMAN NSMAF Protein FAN 917 104.4 8 0 0 0 1 5 1998-07-15 Q92685 ALG3_HUMAN ALG3 Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase 438 50.1 3 2.4.1.258 Endoplasmic reticulum membrane 11 1 Congenital disorder of glycosylation 1D 0 1 5 1998-07-15 Q92805 GOGA1_HUMAN GOLGA1 Golgin subfamily A member 1 767 88.2 9 Golgi apparatus membrane; Golgi apparatus; Cytoplasmic vesicle 0 0 0 1 5 2003-07-03 Q93045 STMN2_HUMAN STMN2 Stathmin-2 179 20.8 8 Cytoplasm; Cell projection; Membrane; Golgi apparatus; Endosome 0 0 0 1 5 1997-11-01 Q969E2 SCAM4_HUMAN SCAMP4 Secretory carrier-associated membrane protein 4 229 25.7 19 Membrane 4 0 0 1 5 2004-05-10 Q969F9 HPS3_HUMAN HPS3 BLOC-2 complex member HPS3 1004 113.7 3 Cytoplasm 0 1 Hermansky-Pudlak syndrome 3 0 1 5 2002-05-10 Q969J3 BORC5_HUMAN BORCS5 BLOC-1-related complex subunit 5 196 22.2 12 Lysosome membrane 0 0 0 1 5 2008-02-26 Q969R2 OSBP2_HUMAN OSBP2 Oxysterol-binding protein 2 916 101.3 22 Membrane; Cytoplasmic vesicle 0 0 0 1 5 2002-02-11 Q969S6 TM203_HUMAN TMEM203 Transmembrane protein 203 136 15.8 9 Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment; Lysosome membrane 4 0 0 1 5 2008-02-05 Q969U6 FBXW5_HUMAN FBXW5 F-box/WD repeat-containing protein 5 566 63.9 9 Cytoplasm 0 0 0 1 5 2004-03-01 Q969X2 SIA7F_HUMAN ST6GALNAC6 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 333 38.1 9 2.4.99.- Golgi apparatus membrane 1 0 0 1 5 2008-01-15 Q969Y2 GTPB3_HUMAN GTPBP3 5-taurinomethyluridine-[tRNA] synthase subunit GTPB3, mitochondrial 492 52.1 19 3.6.1.- Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 23 0 1 5 2007-03-20 Q96A59 MALD3_HUMAN MARVELD3 MARVEL domain-containing protein 3 401 44.9 16 Membrane; Cell junction 4 0 0 1 5 2007-01-09 Q96AJ9 VTI1A_HUMAN VTI1A Vesicle transport through interaction with t-SNAREs homolog 1A 217 25.2 10 Cytoplasmic vesicle; Golgi apparatus membrane 1 0 0 1 5 2003-03-25 Q96AQ7 CIDEC_HUMAN CIDEC Lipid transferase CIDEC 238 26.8 3 Lipid droplet; Endoplasmic reticulum; Nucleus 0 1 Lipodystrophy, familial partial, 5 0 1 5 2002-03-27 Q96AQ8 MCUR1_HUMAN MCUR1 Mitochondrial calcium uniporter regulator 1 359 39.7 6 Mitochondrion inner membrane 2 0 0 1 5 2007-07-24 Q96AV8 E2F7_HUMAN E2F7 Transcription factor E2F7 911 99.9 12 Nucleus 0 0 0 1 5 2007-08-21 Q96AY3 FKB10_HUMAN FKBP10 Peptidyl-prolyl cis-trans isomerase FKBP10 582 64.2 17 5.2.1.8 Endoplasmic reticulum lumen 0 2 Osteogenesis imperfecta 11; Bruck syndrome 1 0 1 5 2002-09-19 Q96B96 LDAF1_HUMAN LDAF1 Lipid droplet assembly factor 1 161 17.5 16 Endoplasmic reticulum membrane; Lipid droplet 4 0 0 1 5 2007-03-06 Q96BK5 PINX1_HUMAN PINX1 PIN2/TERF1-interacting telomerase inhibitor 1 328 37 8 Nucleus; Chromosome 0 0 0 1 5 2002-06-20 Q96BR9 ZBT8A_HUMAN ZBTB8A Zinc finger and BTB domain-containing protein 8A 441 50.2 1 Nucleus 0 0 0 1 5 2009-07-07 Q96BZ8 LENG1_HUMAN LENG1 Leukocyte receptor cluster member 1 264 30.5 19 0 0 0 1 5 2006-10-31 Q96CC6 RHDF1_HUMAN RHBDF1 Inactive rhomboid protein 1 855 97.4 16 Endoplasmic reticulum membrane; Golgi apparatus membrane 7 0 0 1 5 2008-06-10 Q96CN5 LRC45_HUMAN LRRC45 Leucine-rich repeat-containing protein 45 670 76 17 Cytoplasm 0 0 0 1 5 2006-02-21 Q96DN6 MBD6_HUMAN MBD6 Methyl-CpG-binding domain protein 6 1003 101.2 12 Nucleus; Chromosome 0 0 0 1 5 2003-03-25 Q96DX7 TRI44_HUMAN TRIM44 Tripartite motif-containing protein 44 344 38.5 11 0 1 Aniridia 3 0 1 5 2004-12-07 Q96EU7 C1GLC_HUMAN C1GALT1C1 C1GALT1-specific chaperone 1 318 36.4 X Membrane 1 2 Tn polyagglutination syndrome; Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature 0 1 5 2007-05-01 Q96F85 CNRP1_HUMAN CNRIP1 CB1 cannabinoid receptor-interacting protein 1 164 18.6 2 0 0 0 1 5 2005-07-05 Q96FE7 P3IP1_HUMAN PIK3IP1 Phosphoinositide-3-kinase-interacting protein 1 263 28.2 22 Cell membrane 1 0 0 1 5 2007-03-20 Q96FN9 DTD2_HUMAN DTD2 D-aminoacyl-tRNA deacylase 2 168 18.7 14 3.1.1.96 Cytoplasm 0 0 0 1 5 2006-10-31 Q96FV3 TSN17_HUMAN TSPAN17 Tetraspanin-17 270 30.3 5 Cell membrane 4 0 0 1 5 2004-08-16 Q96FZ5 CKLF7_HUMAN CMTM7 CKLF-like MARVEL transmembrane domain-containing protein 7 175 18.8 3 Membrane 4 0 0 1 5 2003-09-19 Q96GQ5 RUSF1_HUMAN RUSF1 RUS family member 1 468 51 16 Membrane 1 0 0 1 5 2007-04-03 Q96GR4 ZDH12_HUMAN ZDHHC12 Palmitoyltransferase ZDHHC12 267 30.8 9 2.3.1.225 Golgi apparatus membrane; Endoplasmic reticulum membrane 4 0 0 1 5 2003-02-01 Q96GX1 TECT2_HUMAN TCTN2 Tectonic-2 697 76.9 12 Membrane; Cytoplasm 1 2 Meckel syndrome 8; Joubert syndrome 24 0 1 5 2006-04-04 Q96H96 COQ2_HUMAN COQ2 4-hydroxybenzoate polyprenyltransferase, mitochondrial 371 40.5 4 2.5.1.39 Mitochondrion inner membrane 9 2 Coenzyme Q10 deficiency, primary, 1; Multiple system atrophy 1 0 1 5 2006-03-21 Q96HZ4 HES6_HUMAN HES6 Transcription cofactor HES-6 224 24.1 2 Nucleus 0 0 0 1 5 2004-07-19 Q96I24 FUBP3_HUMAN FUBP3 Far upstream element-binding protein 3 572 61.6 9 Nucleus 0 0 0 1 5 2003-09-26 Q96IL0 COA8_HUMAN COA8 Cytochrome c oxidase assembly factor 8 206 24.2 14 Mitochondrion inner membrane 0 1 Mitochondrial complex IV deficiency, nuclear type 17 0 1 5 2005-07-19 Q96J65 MRP9_HUMAN ABCC12 ATP-binding cassette sub-family C member 12 1359 152.3 16 Endoplasmic reticulum membrane 10 0 0 1 5 2006-10-17 Q96JE7 SC16B_HUMAN SEC16B Protein transport protein Sec16B 1060 116.6 1 Endoplasmic reticulum membrane; Golgi apparatus membrane 0 0 0 1 5 2008-07-01 Q96JF0 SIAT2_HUMAN ST6GAL2 Beta-galactoside alpha-2,6-sialyltransferase 2 529 60.2 2 2.4.3.1 Golgi apparatus 1 0 0 1 5 2008-01-15 Q96JJ6 JPH4_HUMAN JPH4 Junctophilin-4 628 65.9 14 Cell membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2003-09-09 Q96JJ7 TMX3_HUMAN TMX3 Protein disulfide-isomerase TMX3 454 51.9 18 5.3.4.1 Endoplasmic reticulum membrane 1 0 0 1 5 2005-05-10 Q96JX3 SRAC1_HUMAN SERAC1 Protein SERAC1 654 74.1 6 Mitochondrion membrane; Endoplasmic reticulum; Mitochondrion 1 1 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 1 5 2007-02-06 Q96K12 FACR2_HUMAN FAR2 Fatty acyl-CoA reductase 2 515 59.4 12 1.2.1.84 Peroxisome membrane 1 0 0 1 5 2006-11-28 Q96K21 ANCHR_HUMAN ZFYVE19 Abscission/NoCut checkpoint regulator 471 51.5 15 Cytoplasm; Cleavage furrow; Midbody 0 1 Cholestasis, progressive familial intrahepatic, 9 0 1 5 2005-05-24 Q96K76 UBP47_HUMAN USP47 Ubiquitin carboxyl-terminal hydrolase 47 1375 157.3 11 3.4.19.12 Cytoplasm 0 0 0 1 5 2005-07-05 Q96K78 AGRG7_HUMAN ADGRG7 Adhesion G protein-coupled receptor G7 797 88.9 3 Membrane 7 0 0 1 5 2004-03-29 Q96K80 ZC3HA_HUMAN ZC3H10 Zinc finger CCCH domain-containing protein 10 434 46.1 12 Nucleus 0 0 0 1 5 2007-03-20 Q96KG9 SCYL1_HUMAN SCYL1 N-terminal kinase-like protein 808 89.6 11 Cytoplasm; Endoplasmic reticulum-Golgi intermediate compartment; Golgi apparatus 0 1 Spinocerebellar ataxia, autosomal recessive, 21 0 1 5 2006-09-19 Q96KK4 O10C1_HUMAN OR10C1 Olfactory receptor 10C1 312 34.4 6 Cell membrane 7 0 0 2 5 2002-01-23 Q96KR6 MIMS2_HUMAN MIMS2 Mitochondrial inner membrane scaffold 2 192 20.4 20 Mitochondrion inner membrane 2 0 0 1 5 2003-10-10 Q96L46 CPNS2_HUMAN CAPNS2 Calpain small subunit 2 248 27.7 16 Cytoplasm; Cell membrane 0 0 0 1 5 2004-03-15 Q96LD4 TRI47_HUMAN TRIM47 E3 ubiquitin-protein ligase TRIM47 638 69.5 17 2.3.2.27 Cytoplasm; Nucleus 0 0 0 1 5 2004-11-23 Q96LI6 HSFY1_HUMAN HSFY1 Heat shock transcription factor, Y-linked 401 45.1 Y Nucleus; Cytoplasm 0 0 0 1 5 2003-01-17 Q96LJ8 UBX10_HUMAN UBXN10 UBX domain-containing protein 10 280 30.8 1 Cell projection 0 0 0 1 5 2004-11-23 Q96LM5 SMIP2_HUMAN SPMIP2 Protein SPMIP2 186 21.7 4 0 0 0 1 5 2008-03-18 Q96LX7 CCD17_HUMAN CCDC17 Coiled-coil domain-containing protein 17 622 67.7 1 Cell projection; Cytoplasm 0 0 0 1 5 2007-09-11 Q96M02 CJ090_HUMAN C10orf90 (E2-independent) E3 ubiquitin-conjugating enzyme FATS 699 77.9 10 2.3.2.- Cytoplasm 0 0 0 1 5 2007-03-06 Q96M61 MAGBI_HUMAN MAGEB18 Melanoma-associated antigen B18 343 38.5 X Cytoplasm 0 0 0 1 5 2005-10-25 Q96MP8 KCTD7_HUMAN KCTD7 BTB/POZ domain-containing protein KCTD7 289 33.1 7 Cell membrane; Cytoplasm 0 1 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions 0 1 5 2006-10-03 Q96MT3 PRIC1_HUMAN PRICKLE1 Prickle-like protein 1 831 94.3 12 Nucleus membrane; Cytoplasm 0 2 Epilepsy, progressive myoclonic 1B; Neural tube defects 0 1 5 2005-02-01 Q96MV8 ZDH15_HUMAN ZDHHC15 Palmitoyltransferase ZDHHC15 337 39.3 X 2.3.1.225 Golgi apparatus membrane; Postsynaptic density 4 1 Intellectual developmental disorder, X-linked 91 0 1 5 2003-10-24 Q96MW5 COG8_HUMAN COG8 Conserved oligomeric Golgi complex subunit 8 612 68.4 16 Golgi apparatus membrane 0 1 Congenital disorder of glycosylation 2H 0 1 5 2002-08-30 Q96NB1 CEP20_HUMAN CEP20 Centrosomal protein 20 174 19.8 16 Cytoplasm; Cell projection; Cytoplasmic granule 0 0 0 1 5 2006-12-12 Q96NH3 BROMI_HUMAN TBC1D32 Protein broad-minded 1257 144.8 6 Cytoplasm; Cell projection 0 3 Orofaciodigital syndrome 9; Retinitis pigmentosa 100; Alsahan-Harris syndrome 0 1 5 2005-07-19 Q96NL3 ZN599_HUMAN ZNF599 Zinc finger protein 599 588 67.5 19 Nucleus 0 0 0 1 5 2006-05-16 Q96NL6 SCLT1_HUMAN SCLT1 Sodium channel and clathrin linker 1 688 80.9 4 Cytoplasm 0 0 0 1 5 2008-02-05 Q96NM4 TOX2_HUMAN TOX2 TOX high mobility group box family member 2 488 51.6 20 Nucleus 0 0 0 1 5 2002-10-19 Q96P53 WDFY2_HUMAN WDFY2 WD repeat and FYVE domain-containing protein 2 400 45.2 13 Endosome; Early endosome; Cytoplasm 0 0 0 1 5 2004-08-16 Q96PD2 DCBD2_HUMAN DCBLD2 Discoidin, CUB and LCCL domain-containing protein 2 775 85 3 Membrane 1 0 0 1 5 2004-07-05 Q96PD5 PGRP2_HUMAN PGLYRP2 N-acetylmuramoyl-L-alanine amidase 576 62.2 19 3.5.1.28 Secreted; Membrane 0 0 0 1 5 2003-11-07 Q96Q89 KI20B_HUMAN KIF20B Kinesin-like protein KIF20B 1820 210.6 10 Nucleus; Cytoplasm; Midbody; Cell projection 0 0 0 1 5 2007-01-23 Q96QS3 ARX_HUMAN ARX Homeobox protein ARX 562 58.2 X Nucleus; Chromosome 0 5 Lissencephaly, X-linked 2; Developmental and epileptic encephalopathy 1; Partington syndrome; Intellectual developmental disorder, X-linked 29; Agenesis of the corpus callosum, with abnormal genitalia 0 1 5 2003-01-27 Q96R06 SPAG5_HUMAN SPAG5 Sperm-associated antigen 5 1193 134.4 17 Cytoplasm; Chromosome; Midbody; Cytoplasmic granule 0 0 0 1 5 2004-05-10 Q96RF0 SNX18_HUMAN SNX18 Sorting nexin-18 628 68.9 5 Endomembrane system; Endosome membrane; Recycling endosome membrane; Cell membrane; Cytoplasmic vesicle membrane 0 0 0 1 5 2002-01-23 Q96RW7 HMCN1_HUMAN HMCN1 Hemicentin-1 5635 613.4 1 Secreted; Cytoplasm; Cell junction; Cleavage furrow 0 1 Macular degeneration, age-related, 1 0 1 5 2006-01-10 Q96S16 JMJD8_HUMAN JMJD8 JmjC domain-containing protein 8 264 29.5 16 Endoplasmic reticulum lumen; Cytoplasm 0 0 0 1 5 2008-07-22 Q96S38 KS6C1_HUMAN RPS6KC1 Inactive ribosomal protein S6 kinase delta-1 1066 118.7 1 Cytoplasm; Membrane; Early endosome 0 1 Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter 0 1 5 2006-05-02 Q96SA4 SERC2_HUMAN SERINC2 Serine incorporator 2 455 50.7 1 Cell membrane 11 0 0 1 5 2003-10-31 Q96SB3 NEB2_HUMAN PPP1R9B Neurabin-2 817 89.3 17 Cytoplasm; Nucleus; Cell projection; Postsynaptic density; Synapse; Cell junction; Cell membrane 0 0 0 1 5 2006-03-21 Q96SQ9 CP2S1_HUMAN CYP2S1 Cytochrome P450 2S1 504 55.8 19 1.14.14.- Endoplasmic reticulum membrane; Microsome membrane 0 0 0 1 5 2004-06-07 Q96T17 MA7D2_HUMAN MAP7D2 MAP7 domain-containing protein 2 732 82 X Cytoplasm; Midbody; Cell projection 0 0 0 1 5 2007-10-02 Q96T53 MBOA4_HUMAN MBOAT4 Membrane-bound ghrelin O-acyltransferase MBOAT4 435 49.7 8 2.3.1.- Endoplasmic reticulum membrane 11 0 0 1 5 2007-01-23 Q96TA2 YMEL1_HUMAN YME1L1 ATP-dependent zinc metalloprotease YME1L1 773 86.5 10 3.4.24.-, 3.6.-.- Mitochondrion inner membrane; Mitochondrion 1 1 Optic atrophy 11 0 1 5 2004-04-13 Q99518 FMO2_HUMAN FMO2 Flavin-containing monooxygenase 2 535 60.9 1 1.14.13.- Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2000-05-30 Q99576 T22D3_HUMAN TSC22D3 TSC22 domain family protein 3 134 14.8 X Cytoplasm; Nucleus 0 0 0 1 5 1997-11-01 Q99578 RIT2_HUMAN RIT2 GTP-binding protein Rit2 217 24.7 18 3.6.5.2 Nucleus; Cell membrane 0 0 0 1 5 2003-10-31 Q99615 DNJC7_HUMAN DNAJC7 DnaJ homolog subfamily C member 7 494 56.4 17 Cytoplasm; Nucleus 0 0 0 1 5 2000-05-30 Q99645 EPYC_HUMAN EPYC Epiphycan 322 36.6 12 Secreted 0 0 0 1 5 2002-11-08 Q99674 CGRE1_HUMAN CGREF1 Cell growth regulator with EF hand domain protein 1 318 33.5 2 Secreted 0 0 0 1 5 2002-09-19 Q99689 FEZ1_HUMAN FEZ1 Fasciculation and elongation protein zeta-1 392 45.1 11 Cytoplasm; Cell membrane 0 0 0 1 5 2001-04-27 Q99733 NP1L4_HUMAN NAP1L4 Nucleosome assembly protein 1-like 4 375 42.8 11 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 1997-11-01 Q99795 GPA33_HUMAN GPA33 Cell surface A33 antigen 319 35.6 1 Membrane 1 0 0 1 5 1997-11-01 Q99853 FOXB1_HUMAN FOXB1 Forkhead box protein B1 325 35 15 Nucleus 0 0 0 1 5 2000-05-30 Q99909 SSX3_HUMAN SSX3 Protein SSX3 188 21.7 X 0 0 0 1 5 1998-12-15 Q99943 PLCA_HUMAN AGPAT1 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha 283 31.7 6 2.3.1.51 Endoplasmic reticulum membrane 2 0 0 1 5 1998-12-15 Q99966 CITE1_HUMAN CITED1 Cbp/p300-interacting transactivator 1 193 19.9 X Nucleus; Cytoplasm 0 0 0 1 5 1998-12-15 Q9BPW5 RSLBB_HUMAN RASL11B Ras-like protein family member 11B 248 27.5 4 3.6.5.2 0 0 0 1 5 2007-10-23 Q9BQE9 BCL7B_HUMAN BCL7B B-cell CLL/lymphoma 7 protein family member B 202 22.2 7 0 0 0 1 5 2006-06-13 Q9BQS2 SYT15_HUMAN SYT15 Synaptotagmin-15 421 47.4 10 Cell membrane 1 0 0 1 5 2003-10-24 Q9BQS7 HEPH_HUMAN HEPH Hephaestin 1158 130.4 X 1.16.3.1 Basolateral cell membrane 1 0 0 1 5 2004-09-27 Q9BQT9 CSTN3_HUMAN CLSTN3 Calsyntenin-3 956 106.1 12 Postsynaptic cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell projection 2 0 0 1 5 2002-09-19 Q9BQW3 COE4_HUMAN EBF4 Transcription factor COE4 602 64.5 20 Nucleus 0 0 0 1 5 2002-10-10 Q9BRG2 SH23A_HUMAN SH2D3A SH2 domain-containing protein 3A 576 63.1 19 0 0 0 1 5 2006-05-02 Q9BRK0 REEP2_HUMAN REEP2 Receptor expression-enhancing protein 2 252 28.3 5 Membrane 2 2 Spastic paraplegia 72A, autosomal dominant; Spastic paraplegia 72B, autosomal recessive 0 1 5 2005-12-20 Q9BRR3 PGAP4_HUMAN PGAP4 GPI-N-acetylgalactosamine transferase PGAP4 403 46.6 9 2.4.1.- Golgi apparatus membrane 3 0 0 1 5 2005-07-19 Q9BRT8 ZNG1A_HUMAN ZNG1A Zinc-regulated GTPase metalloprotein activator 1A 395 44.1 9 3.6.5.- Nucleus 0 0 0 1 5 2006-07-11 Q9BRV3 SWET1_HUMAN SLC50A1 Sugar transporter SWEET1 221 25 1 Golgi apparatus membrane; Cell membrane 7 0 0 1 5 2008-07-22 Q9BS91 S35A5_HUMAN SLC35A5 UDP-sugar transporter protein SLC35A5 424 48.5 3 Golgi apparatus membrane 10 0 0 1 5 2007-11-13 Q9BSE5 GDAH_HUMAN AGMAT Guanidino acid hydrolase, mitochondrial 352 37.7 1 3.5.3.- Mitochondrion 0 0 0 1 5 2002-03-27 Q9BSH4 TACO1_HUMAN TACO1 Translational activator of cytochrome c oxidase 1 297 32.5 17 Mitochondrion 0 1 Mitochondrial complex IV deficiency, nuclear type 8 0 1 5 2003-08-04 Q9BSJ5 CQ080_HUMAN MTNAP1 Mitochondrial nucleoid-associated protein 1 609 67.3 17 Mitochondrion inner membrane; Mitochondrion matrix 1 0 0 1 5 2007-04-17 Q9BSJ6 PIMRE_HUMAN PIMREG Protein PIMREG 248 27.5 17 Nucleus 0 0 0 1 5 2007-03-20 Q9BT40 INP5K_HUMAN INPP5K Inositol polyphosphate 5-phosphatase K 448 51.1 17 3.1.3.56 Endoplasmic reticulum; Cytoplasm 0 1 Muscular dystrophy, congenital, with cataracts and impaired intellectual development 0 1 5 2003-09-26 Q9BT67 NFIP1_HUMAN NDFIP1 NEDD4 family-interacting protein 1 221 24.9 5 Endosome membrane; Golgi apparatus membrane; Synapse; Cell projection; Secreted 3 0 0 1 5 2005-12-06 Q9BTA0 F167B_HUMAN FAM167B Protein FAM167B 163 18.4 1 0 0 0 1 5 2003-01-27 Q9BTC8 MTA3_HUMAN MTA3 Metastasis-associated protein MTA3 594 67.5 2 Nucleus; Cytoplasm 0 0 0 1 5 2003-02-28 Q9BTD3 TM121_HUMAN TMEM121 Transmembrane protein 121 319 35.8 14 Membrane 7 0 0 1 5 2006-10-03 Q9BTV5 FSD1_HUMAN FSD1 Fibronectin type III and SPRY domain-containing protein 1 496 55.8 19 Cytoplasm; Nucleus; Cleavage furrow 0 0 0 1 5 2008-02-05 Q9BU40 CRDL1_HUMAN CHRDL1 Chordin-like protein 1 456 52 X Secreted 0 1 Megalocornea 1, X-linked 0 1 5 2003-01-17 Q9BUB4 ADAT1_HUMAN ADAT1 tRNA-specific adenosine deaminase 1 502 55.4 16 3.5.4.34 0 0 0 1 5 2007-05-15 Q9BUB7 TMM70_HUMAN TMEM70 Transmembrane protein 70, mitochondrial 260 29 8 Mitochondrion inner membrane 2 1 Mitochondrial complex V deficiency, nuclear type 2 0 1 5 2006-10-03 Q9BUP0 EFHD1_HUMAN EFHD1 EF-hand domain-containing protein D1 239 26.9 2 Mitochondrion inner membrane 0 0 0 1 5 2002-01-23 Q9BUR5 MIC26_HUMAN APOO MICOS complex subunit MIC26 198 22.3 X Mitochondrion inner membrane; Secreted; Mitochondrion; Golgi apparatus membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2006-10-31 Q9BVV2 FND11_HUMAN FNDC11 Fibronectin type III domain-containing protein 11 318 36.5 20 0 0 0 1 5 2006-04-18 Q9BVX2 T106C_HUMAN TMEM106C Transmembrane protein 106C 250 27.9 12 Endoplasmic reticulum membrane; Membrane 2 0 0 1 5 2006-06-27 Q9BWM7 SFXN3_HUMAN SFXN3 Sideroflexin-3 321 35.5 10 Mitochondrion membrane 4 0 0 1 5 2002-03-27 Q9BWV7 TTLL2_HUMAN TTLL2 Probable tubulin polyglutamylase TTLL2 592 67.3 6 6.-.-.- 0 0 0 1 5 2004-05-10 Q9BXF6 RFIP5_HUMAN RAB11FIP5 Rab11 family-interacting protein 5 653 70.4 2 Cytoplasm; Recycling endosome membrane; Early endosome membrane; Golgi apparatus membrane; Cytoplasmic vesicle; Mitochondrion membrane 0 0 0 1 5 2003-08-22 Q9BXL6 CAR14_HUMAN CARD14 Caspase recruitment domain-containing protein 14 1004 113.3 17 Cytoplasm 0 2 Psoriasis 2; Pityriasis rubra pilaris 0 1 5 2002-01-31 Q9BXS6 NUSAP_HUMAN NUSAP1 Nucleolar and spindle-associated protein 1 441 49.5 15 Cytoplasm; Nucleus; Chromosome 0 0 0 1 5 2007-09-11 Q9BXX0 EMIL2_HUMAN EMILIN2 EMILIN-2 1053 115.7 18 Secreted 0 0 0 1 5 2003-10-03 Q9BXY4 RSPO3_HUMAN RSPO3 R-spondin-3 272 30.9 6 Secreted 0 0 0 1 5 2006-05-16 Q9BY10 S46A2_HUMAN SLC46A2 Solute carrier family 46 member 2 475 51.1 9 Endosome membrane; Cell membrane 12 0 0 1 5 2005-02-01 Q9BY15 AGRE3_HUMAN ADGRE3 Adhesion G protein-coupled receptor E3 652 72.6 19 Cell membrane 7 0 0 1 5 2004-02-16 Q9BY42 RTF2_HUMAN RTF2 Replication termination factor 2 306 33.9 20 Chromosome 0 0 0 1 5 2002-10-10 Q9BY78 RNF26_HUMAN RNF26 E3 ubiquitin-protein ligase RNF26 433 47.7 11 2.3.2.27 Endoplasmic reticulum membrane 5 0 0 1 5 2002-03-27 Q9BYG0 B3GN5_HUMAN B3GNT5 Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase 378 44.1 3 2.4.1.206 Golgi apparatus membrane 1 0 0 1 5 2007-05-29 Q9BYQ7 KRA41_HUMAN KRTAP4-1 Keratin-associated protein 4-1 146 15.2 17 0 0 0 1 5 2003-10-31 Q9BYR4 KRA43_HUMAN KRTAP4-3 Keratin-associated protein 4-3 195 20.5 17 0 0 0 1 5 2003-10-24 Q9BYX7 ACTBM_HUMAN POTEKP Putative beta-actin-like protein 3 375 42 Cytoplasm 0 0 0 5 5 2007-10-23 Q9BZF9 UACA_HUMAN UACA Uveal autoantigen with coiled-coil domains and ankyrin repeats 1416 162.5 15 Nucleus; Cytoplasm 0 0 0 1 5 2006-04-04 Q9BZG8 DPH1_HUMAN DPH1 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 438 48.1 17 2.5.1.108 Nucleus; Cytoplasm 0 1 Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 0 1 5 2007-10-23 Q9BZL4 PP12C_HUMAN PPP1R12C Protein phosphatase 1 regulatory subunit 12C 782 84.9 19 Cytoplasm 0 0 0 1 5 2008-01-15 Q9BZQ2 SHP1L_HUMAN SHCBP1L Testicular spindle-associated protein SHCBP1L 653 72.6 1 Cytoplasm 0 0 0 1 5 2007-04-17 Q9BZR8 B2L14_HUMAN BCL2L14 Apoptosis facilitator Bcl-2-like protein 14 327 36.6 12 Cytoplasm 0 0 0 1 5 2004-12-21 Q9BZW4 TM6S2_HUMAN TM6SF2 Transmembrane 6 superfamily member 2 377 42.6 19 Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane 9 0 0 1 5 2002-03-27 Q9C030 TRIM6_HUMAN TRIM6 Tripartite motif-containing protein 6 488 56.4 11 2.3.2.27 Cytoplasm 0 0 0 1 5 2002-11-08 Q9C091 GRB1L_HUMAN GREB1L GREB1-like protein 1923 214.4 18 Membrane 1 2 Renal hypodysplasia/aplasia 3; Deafness, autosomal dominant, 80 0 1 5 2008-02-26 Q9C093 SPEF2_HUMAN SPEF2 Sperm flagella and cilia-associated protein 2 1822 209.8 5 Cell projection; Cytoplasm; Golgi apparatus 0 1 Spermatogenic failure 43 0 1 5 2007-08-21 Q9C0A6 SETD5_HUMAN SETD5 Histone-lysine N-methyltransferase SETD5 1442 157.5 3 2.1.1.359, 2.1.1.367 Nucleus; Chromosome 0 1 Intellectual developmental disorder, autosomal dominant 23 0 1 5 2007-04-03 Q9C0B0 UNK_HUMAN UNK RING finger protein unkempt homolog 810 88.1 17 Cytoplasm 0 0 0 1 5 2004-05-10 Q9C0C2 CNO12_HUMAN CNOT12 CCR4-NOT transcription complex subunit 12 1729 181.8 11 Nucleus; Cytoplasm; Chromosome 0 0 0 1 5 2002-06-20 Q9C0C6 CIPC_HUMAN CIPC CLOCK-interacting pacemaker 399 42.7 14 Nucleus; Cytoplasm 0 0 0 1 5 2006-10-31 Q9C0D5 TANC1_HUMAN TANC1 Protein TANC1 1861 202.2 2 Postsynaptic density 0 0 0 1 5 2008-02-05 Q9C0D6 FHDC1_HUMAN FHDC1 FH2 domain-containing protein 1 1143 124.8 4 Cell projection; Golgi apparatus 0 0 0 1 5 2008-02-05 Q9C0D9 EPT1_HUMAN SELENOI Ethanolaminephosphotransferase 1 397 45.2 2 2.7.8.1 Endoplasmic reticulum membrane 10 1 Spastic paraplegia 81, autosomal recessive 0 1 5 2003-08-22 Q9C0H9 SRCN1_HUMAN SRCIN1 SRC kinase signaling inhibitor 1 1183 127.1 17 Cytoplasm; Cell projection; Presynapse; Postsynapse; Postsynaptic density 0 0 0 1 5 2004-02-16 Q9GZM5 YIPF3_HUMAN YIPF3 Protein YIPF3 350 38.2 6 Cell membrane; Cytoplasm; Golgi apparatus 5 0 0 1 5 2006-06-27 Q9GZR2 REXO4_HUMAN REXO4 RNA exonuclease 4 422 46.7 9 3.1.-.- Nucleus 0 0 0 1 5 2005-07-19 Q9GZT8 NIF3L_HUMAN NIF3L1 NIF3-like protein 1 377 42 2 Cytoplasm; Nucleus 0 0 0 1 5 2002-05-15 Q9GZV8 PRD14_HUMAN PRDM14 PR domain zinc finger protein 14 571 64.1 8 2.1.1.- Nucleus 0 0 0 1 5 2001-11-16 Q9GZX5 ZN350_HUMAN ZNF350 Zinc finger protein 350 532 60 19 Nucleus; Nucleus matrix 0 0 0 1 5 2004-11-23 Q9GZY8 MFF_HUMAN MFF Mitochondrial fission factor 342 38.5 2 Mitochondrion outer membrane; Peroxisome; Cytoplasmic vesicle 1 1 Encephalopathy due to defective mitochondrial and peroxisomal fission 2 0 1 5 2007-05-29 Q9H0C2 ADT4_HUMAN SLC25A31 ADP/ATP translocase 4 315 35 4 Mitochondrion inner membrane; Membrane; Cell projection 6 0 0 1 5 2007-08-21 Q9H0E3 SP130_HUMAN SAP130 Histone deacetylase complex subunit SAP130 1048 110.3 2 Nucleus 0 0 0 1 5 2007-04-03 Q9H0E7 UBP44_HUMAN USP44 Ubiquitin carboxyl-terminal hydrolase 44 712 81.2 12 3.4.19.12 Nucleus; Cytoplasm 0 0 0 1 5 2003-10-10 Q9H0H3 KLH25_HUMAN KLHL25 Kelch-like protein 25 589 65.9 15 0 0 0 1 5 2007-01-23 Q9H0I2 ENKD1_HUMAN ENKD1 Enkurin domain-containing protein 1 346 38.8 16 Cytoplasm; Cell projection 0 0 0 1 5 2006-12-12 Q9H0K1 SIK2_HUMAN SIK2 Serine/threonine-protein kinase SIK2 926 103.9 11 2.7.11.1 Cytoplasm; Endoplasmic reticulum membrane 0 0 0 1 5 2005-02-15 Q9H0R3 TM222_HUMAN TMEM222 Transmembrane protein 222 208 23.2 1 Membrane; Cell projection 3 1 Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities 0 1 5 2006-08-22 Q9H0R5 GBP3_HUMAN GBP3 Guanylate-binding protein 3 595 68.1 1 3.6.5.- Cytoplasm; Golgi apparatus membrane 0 0 0 1 5 2006-11-28 Q9H0X6 RN208_HUMAN RNF208 RING finger protein 208 261 28 9 0 0 0 1 5 2007-02-06 Q9H0Y0 ATG10_HUMAN ATG10 Ubiquitin-like-conjugating enzyme ATG10 220 25.3 5 2.3.2.- Cytoplasm 0 0 0 1 5 2005-03-29 Q9H156 SLIK2_HUMAN SLITRK2 SLIT and NTRK-like protein 2 845 95.4 X Membrane; Cell membrane; Cell projection 1 1 Intellectual developmental disorder, X-linked 111 0 1 5 2004-04-13 Q9H172 ABCG4_HUMAN ABCG4 ATP-binding cassette sub-family G member 4 646 71.9 11 7.6.2.- Cell membrane; Cytoplasmic vesicle membrane; Endosome membrane 6 0 0 1 5 2001-12-05 Q9H1B4 NXF5_HUMAN NXF5 Nuclear RNA export factor 5 397 45.6 X Cytoplasm; Nucleus 0 0 0 2 5 2002-05-15 Q9H1E3 NUCKS_HUMAN NUCKS1 Nuclear ubiquitous casein and cyclin-dependent kinase substrate 1 243 27.3 1 Nucleus; Chromosome 0 0 0 1 5 2001-04-27 Q9H252 KCNH6_HUMAN KCNH6 Voltage-gated inwardly rectifying potassium channel KCNH6 958 106.4 17 Cell membrane 6 0 0 1 5 2002-11-28 Q9H270 VPS11_HUMAN VPS11 Vacuolar protein sorting-associated protein 11 homolog 941 107.8 11 Endosome; Late endosome membrane; Lysosome membrane; Early endosome; Cytoplasmic vesicle 0 2 Leukodystrophy, hypomyelinating, 12; Dystonia 32 0 1 5 2002-09-19 Q9H2B4 S26A1_HUMAN SLC26A1 Sulfate anion transporter 1 701 75 4 Cell membrane; Basolateral cell membrane 9 2 Nephrolithiasis, calcium oxalate, 1; Hypersulfaturia 0 1 5 2002-03-05 Q9H2H9 S38A1_HUMAN SLC38A1 Sodium-coupled neutral amino acid symporter 1 487 54 12 Cell membrane 11 0 0 1 5 2007-11-13 Q9H2J7 S6A15_HUMAN SLC6A15 Sodium-dependent neutral amino acid transporter B(0)AT2 730 81.8 12 Membrane 12 0 0 1 5 2001-09-26 Q9H2S6 TNMD_HUMAN TNMD Tenomodulin 317 37.1 X Membrane; Nucleus envelope 1 0 0 1 5 2001-08-29 Q9H2U9 ADAM7_HUMAN ADAM7 Disintegrin and metalloproteinase domain-containing protein 7 754 85.7 8 Membrane 1 0 0 1 5 2002-01-31 Q9H306 MMP27_HUMAN MMP27 Matrix metalloproteinase-27 513 59 11 3.4.24.- Endoplasmic reticulum 0 0 0 1 5 2007-05-15 Q9H310 RHBG_HUMAN RHBG Ammonium transporter Rh type B 458 49.5 1 Cell membrane; Basolateral cell membrane 12 0 0 1 5 2007-04-03 Q9H320 VCX1_HUMAN VCX Variable charge X-linked protein 1 206 22.3 X 0 0 0 2 5 2001-11-16 Q9H3K2 GHITM_HUMAN GHITM Growth hormone-inducible transmembrane protein 345 37.2 10 Mitochondrion inner membrane 7 0 0 1 5 2001-08-14 Q9H3K6 BOLA2_HUMAN BOLA2 BolA-like protein 2 86 10.1 16 Cytoplasm; Nucleus 0 0 0 1 5 2004-04-26 Q9H3U5 MFSD1_HUMAN MFSD1 Lysosomal dipeptide transporter MFSD1 465 51.2 3 Lysosome membrane 12 0 0 1 5 2007-01-23 Q9H427 KCNKF_HUMAN KCNK15 Potassium channel subfamily K member 15 330 36.2 20 Membrane 4 0 0 1 5 2002-11-01 Q9H4A9 DPEP2_HUMAN DPEP2 Dipeptidase 2 486 53.4 16 3.4.13.19 Membrane 0 0 0 1 5 2006-04-04 Q9H4B7 TBB1_HUMAN TUBB1 Tubulin beta-1 chain 451 50.3 20 Cytoplasm 0 1 Macrothrombocytopenia, isolated, 1, autosomal dominant 0 1 5 2005-02-01 Q9H4F8 SMOC1_HUMAN SMOC1 SPARC-related modular calcium-binding protein 1 434 48.2 14 Secreted 0 1 Ophthalmoacromelic syndrome 0 1 5 2003-10-31 Q9H4Q3 PRD13_HUMAN PRDM13 PR domain zinc finger protein 13 707 74 6 2.1.1.- Nucleus 0 2 Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism; Pontocerebellar hypoplasia 17 0 1 5 2001-11-16 Q9H4X1 RGCC_HUMAN RGCC Regulator of cell cycle RGCC 137 14.6 13 Cytoplasm; Nucleus 0 0 0 1 5 2007-02-06 Q9H4Z2 ZN335_HUMAN ZNF335 Zinc finger protein 335 1342 144.9 20 Nucleus 0 1 Microcephaly 10, primary, autosomal recessive 0 1 5 2002-01-23 Q9H5H4 ZN768_HUMAN ZNF768 Zinc finger protein 768 540 60.2 16 Nucleus; Chromosome 0 0 0 1 5 2007-09-11 Q9H5N1 RABE2_HUMAN RABEP2 Rab GTPase-binding effector protein 2 569 63.5 16 Cytoplasm; Early endosome 0 0 0 1 5 2004-05-24 Q9H6B9 EPHX3_HUMAN EPHX3 Epoxide hydrolase 3 360 40.9 19 3.3.2.10 Microsome membrane 1 0 0 1 5 2006-12-12 Q9H6Q4 CIAO3_HUMAN CIAO3 Cytosolic iron-sulfur assembly component 3 476 53 16 0 0 0 1 5 2007-05-29 Q9H714 PACER_HUMAN RUBCNL Protein associated with UVRAG as autophagy enhancer 662 73.5 13 Cytoplasmic vesicle 0 0 0 1 5 2005-07-19 Q9H7P9 PKHG2_HUMAN PLEKHG2 Pleckstrin homology domain-containing family G member 2 1386 148 19 0 1 Leukodystrophy and acquired microcephaly with or without dystonia 0 1 5 2007-10-02 Q9H7X3 ZN696_HUMAN ZNF696 Zinc finger protein 696 374 40.6 8 Nucleus 0 0 0 1 5 2006-05-02 Q9H8H3 TMT1A_HUMAN TMT1A Thiol S-methyltransferase TMT1A 244 28.3 12 2.1.1.9 Lipid droplet; Endoplasmic reticulum; Membrane; Microsome; Cytoplasm 0 0 0 1 5 2006-10-03 Q9H8W4 PKHF2_HUMAN PLEKHF2 Pleckstrin homology domain-containing family F member 2 249 27.8 8 Early endosome membrane; Endoplasmic reticulum 0 0 0 1 5 2006-10-03 Q9H8X9 ZDH11_HUMAN ZDHHC11 Palmitoyltransferase ZDHHC11 412 46 5 2.3.1.225 Endoplasmic reticulum membrane 4 0 0 1 5 2003-02-01 Q9H977 WDR54_HUMAN WDR54 WD repeat-containing protein 54 334 35.9 2 Vesicle; Cytoplasm; Cell membrane 0 0 0 1 5 2005-09-27 Q9H992 MARH7_HUMAN MARCHF7 E3 ubiquitin-protein ligase MARCHF7 704 78.1 2 2.3.2.27 Cytoplasm 0 0 0 1 5 2007-02-06 Q9H9L7 AKIR1_HUMAN AKIRIN1 Akirin-1 192 21.9 1 Nucleus 0 0 0 1 5 2007-02-06 Q9H9V9 JMJD4_HUMAN JMJD4 2-oxoglutarate and iron-dependent oxygenase JMJD4 417 47.4 1 1.14.11.- Cytoplasm 0 0 0 1 5 2007-06-26 Q9HA38 ZMAT3_HUMAN ZMAT3 Zinc finger matrin-type protein 3 289 32.1 3 Nucleus 0 0 0 1 5 2007-11-13 Q9HAC8 UBTD1_HUMAN UBTD1 Ubiquitin domain-containing protein 1 227 25.9 10 0 0 0 1 5 2006-06-27 Q9HAT0 ROP1A_HUMAN ROPN1 Ropporin-1A 212 23.9 3 Cell projection 0 0 0 1 5 2007-10-23 Q9HAW9 UD18_HUMAN UGT1A8 UDP-glucuronosyltransferase 1A8 530 59.7 2 2.4.1.17 Endoplasmic reticulum membrane 1 0 0 1 5 2003-04-11 Q9HAY6 BCDO1_HUMAN BCO1 Beta,beta-carotene 15,15'-dioxygenase 547 62.6 16 1.13.11.63 Cytoplasm 0 1 Hypercarotenemia and vitamin A deficiency, autosomal dominant 0 1 5 2003-10-10 Q9HB19 PKHA2_HUMAN PLEKHA2 Pleckstrin homology domain-containing family A member 2 425 47.2 8 Cytoplasm; Cell membrane; Nucleus 0 0 0 1 5 2004-03-29 Q9HB55 CP343_HUMAN CYP3A43 Cytochrome P450 3A43 503 57.7 7 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 0 1 5 2002-01-31 Q9HBF4 ZFYV1_HUMAN ZFYVE1 Zinc finger FYVE domain-containing protein 1 777 87.2 14 Golgi apparatus; Endoplasmic reticulum; Lipid droplet; Preautophagosomal structure; Mitochondrion 0 0 0 1 5 2003-08-15 Q9HBH5 RDH14_HUMAN RDH14 Retinol dehydrogenase 14 336 36.9 2 1.1.1.300 0 0 0 1 5 2003-08-29 Q9HBI6 CP4FB_HUMAN CYP4F11 Cytochrome P450 4F11 524 60.1 19 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 1 0 0 1 5 2002-05-10 Q9HBY0 NOX3_HUMAN NOX3 NADPH oxidase 3 568 64.9 6 1.6.3.- Cell membrane 6 0 0 1 5 2006-03-21 Q9HBZ2 ARNT2_HUMAN ARNT2 Aryl hydrocarbon receptor nuclear translocator 2 717 78.7 15 Nucleus 0 1 Webb-Dattani syndrome 0 1 5 2001-10-18 Q9HC24 LFG4_HUMAN TMBIM4 Protein lifeguard 4 238 27 12 Golgi apparatus membrane 6 0 0 1 5 2001-08-14 Q9HC58 NCKX3_HUMAN SLC24A3 Sodium/potassium/calcium exchanger 3 644 72 20 Cell membrane 10 0 0 1 5 2001-12-13 Q9HCJ1 ANKH_HUMAN ANKH Mineralization regulator ANKH 492 54.2 5 Cell membrane 8 2 Chondrocalcinosis 2; Craniometaphyseal dysplasia, autosomal dominant 0 1 5 2001-11-16 Q9N2K0 ENH1_HUMAN HERV-H_2q24.3 provirus ancestral Env polyprotein 584 64.3 Virion 1 0 0 2 5 2004-03-01 Q9NP08 HMX1_HUMAN HMX1 Homeobox protein HMX1 348 36.2 4 Nucleus 0 1 Oculoauricular syndrome 0 1 5 2007-02-20 Q9NP31 SH22A_HUMAN SH2D2A SH2 domain-containing protein 2A 389 42.9 1 Cytoplasm 0 0 0 1 5 2002-03-27 Q9NP85 PODO_HUMAN NPHS2 Podocin 383 42.2 1 Cell membrane 0 1 Nephrotic syndrome 2 0 1 5 2001-01-11 Q9NP94 S39A2_HUMAN SLC39A2 Zinc transporter ZIP2 309 32.7 14 Cell membrane 8 0 0 1 5 2003-09-26 Q9NPA2 MMP25_HUMAN MMP25 Matrix metalloproteinase-25 562 62.6 16 3.4.24.- Cell membrane; Secreted 0 0 0 1 5 2001-01-24 Q9NPB9 ACKR4_HUMAN ACKR4 Atypical chemokine receptor 4 350 39.9 3 Early endosome; Recycling endosome; Cell membrane 7 0 0 1 5 2001-06-01 Q9NPC1 LT4R2_HUMAN LTB4R2 Leukotriene B4 receptor 2 358 37.9 14 Cell membrane 7 0 0 1 5 2002-10-10 Q9NPC8 SIX2_HUMAN SIX2 Homeobox protein SIX2 291 32.3 2 Nucleus 0 0 0 1 5 2001-01-11 Q9NPE2 NGRN_HUMAN NGRN Neugrin 291 32.4 15 Nucleus; Secreted; Mitochondrion membrane 0 0 0 1 5 2007-07-10 Q9NPI9 KCJ16_HUMAN KCNJ16 Inward rectifier potassium channel 16 418 47.9 17 Membrane; Basolateral cell membrane 2 1 Hypokalemic tubulopathy and deafness 0 1 5 2001-04-27 Q9NPJ8 NXT2_HUMAN NXT2 NTF2-related export protein 2 142 16.2 X Nucleus; Cytoplasm 0 0 0 1 5 2001-08-29 Q9NPR9 GP108_HUMAN GPR108 Protein GPR108 543 60.6 19 Golgi apparatus; Golgi apparatus membrane 7 0 0 1 5 2005-12-20 Q9NQ33 ASCL3_HUMAN ASCL3 Achaete-scute homolog 3 181 20.9 11 Nucleus 0 0 0 1 5 2002-05-02 Q9NQC1 JADE2_HUMAN JADE2 E3 ubiquitin-protein ligase Jade-2 790 87.5 5 2.3.2.27 0 0 0 1 5 2003-08-15 Q9NQM4 DAAF6_HUMAN DNAAF6 Dynein axonemal assembly factor 6 214 24.1 X Cytoplasm; Golgi apparatus 0 1 Ciliary dyskinesia, primary, 36, X-linked 0 1 5 2005-07-19 Q9NQR9 G6PC2_HUMAN G6PC2 Glucose-6-phosphatase 2 355 40.6 2 3.1.3.9 Endoplasmic reticulum membrane 9 0 0 1 5 2008-05-20 Q9NQW1 SC31B_HUMAN SEC31B Protein transport protein Sec31B 1179 128.7 10 Cytoplasm; Cytoplasmic vesicle; Endoplasmic reticulum membrane 0 0 0 1 5 2007-07-10 Q9NQX5 NPDC1_HUMAN NPDC1 Neural proliferation differentiation and control protein 1 325 34.5 9 Membrane 1 0 0 1 5 2001-01-11 Q9NQX7 ITM2C_HUMAN ITM2C Integral membrane protein 2C 267 30.2 2 Lysosome membrane; Cell membrane 1 0 0 1 5 2001-01-24 Q9NQY0 BIN3_HUMAN BIN3 Bridging integrator 3 253 29.7 8 Cytoplasm 0 0 0 1 5 2003-05-16 Q9NR23 GDF3_HUMAN GDF3 Growth/differentiation factor 3 364 41.4 12 Secreted; Cytoplasm 0 3 Klippel-Feil syndrome 3, autosomal dominant; Microphthalmia/Coloboma 6; Microphthalmia, isolated, 7 0 1 5 2001-02-21 Q9NR90 DAZ3_HUMAN DAZ3 Deleted in azoospermia protein 3 486 55 Y Cytoplasm; Nucleus 0 1 Spermatogenic failure Y-linked 2 0 1 5 2004-03-01 Q9NRA1 PDGFC_HUMAN PDGFC Platelet-derived growth factor C 345 39 4 Cytoplasm; Secreted; Nucleus; Cytoplasmic granule; Cell membrane 0 0 0 1 5 2008-07-22 Q9NRJ7 PCDBG_HUMAN PCDHB16 Protocadherin beta-16 776 84.9 5 Membrane 1 0 0 1 5 2001-04-27 Q9NRX5 SERC1_HUMAN SERINC1 Serine incorporator 1 453 50.5 6 Endoplasmic reticulum membrane 10 0 0 1 5 2002-11-25 Q9NRX6 KISHB_HUMAN TMEM167B Protein kish-B 74 8.3 1 Golgi apparatus membrane 1 0 0 1 5 2006-12-12 Q9NS37 ZHANG_HUMAN CREBZF CREB/ATF bZIP transcription factor 354 37.1 11 Nucleus 0 0 0 1 5 2005-04-12 Q9NS73 MBIP1_HUMAN MBIP MAP3K12-binding inhibitory protein 1 344 39.3 14 Nucleus; Cytoplasm 0 0 0 1 5 2004-05-10 Q9NSA2 KCND1_HUMAN KCND1 A-type voltage-gated potassium channel KCND1 647 71.3 X Cell membrane 6 0 0 1 5 2003-11-07 Q9NSE4 SYIM_HUMAN IARS2 Isoleucine--tRNA ligase, mitochondrial 1012 113.8 1 6.1.1.5 Mitochondrion matrix 0 1 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 0 1 5 2006-05-02 Q9NT99 LRC4B_HUMAN LRRC4B Leucine-rich repeat-containing protein 4B 713 76.4 19 Membrane; Presynaptic cell membrane 1 0 0 1 5 2006-04-04 Q9NTQ9 CXB4_HUMAN GJB4 Gap junction beta-4 protein 266 30.4 1 Cell membrane; Cell junction 4 1 Erythrokeratodermia variabilis et progressiva 2 0 1 5 2001-01-11 Q9NUE0 ZDH18_HUMAN ZDHHC18 Palmitoyltransferase ZDHHC18 388 42 1 2.3.1.225 Golgi apparatus membrane 4 0 0 1 5 2003-08-29 Q9NUK0 MBNL3_HUMAN MBNL3 Muscleblind-like protein 3 354 38.5 X Nucleus; Cytoplasm 0 0 0 1 5 2001-11-16 Q9NUM3 S39A9_HUMAN SLC39A9 Zinc transporter ZIP9 307 32.3 14 Golgi apparatus; Cell membrane; Cytoplasm; Mitochondrion; Nucleus 8 0 0 1 5 2007-08-21 Q9NUP7 TRM13_HUMAN TRMT13 tRNA:m(4)X modification enzyme TRM13 homolog 481 54.2 1 2.1.1.225 0 0 0 1 5 2006-05-30 Q9NUQ2 PLCE_HUMAN AGPAT5 1-acyl-sn-glycerol-3-phosphate acyltransferase epsilon 364 42.1 8 2.3.1.51 Endoplasmic reticulum membrane; Nucleus envelope; Mitochondrion 3 0 0 1 5 2002-01-23 Q9NVE7 PANK4_HUMAN PANK4 4'-phosphopantetheine phosphatase 773 86 1 3.1.3.- Cytoplasm 0 1 Cataract 49 0 1 5 2003-01-17 Q9NVH1 DJC11_HUMAN DNAJC11 DnaJ homolog subfamily C member 11 559 63.3 1 Mitochondrion 0 0 0 1 5 2006-07-25 Q9NVI7 ATD3A_HUMAN ATAD3A ATPase family AAA domain-containing protein 3A 586 66.2 1 3.6.1.- Mitochondrion inner membrane; Mitochondrion matrix 1 2 Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 1 5 2005-09-13 Q9NVN8 GNL3L_HUMAN GNL3L Guanine nucleotide-binding protein-like 3-like protein 582 65.6 X Nucleus 0 0 0 1 5 2007-04-17 Q9NVT9 ARMC1_HUMAN ARMC1 Armadillo repeat-containing protein 1 282 31.3 8 Cytoplasm; Mitochondrion; Mitochondrion outer membrane 0 0 0 1 5 2006-06-27 Q9NW75 GPTC2_HUMAN GPATCH2 G patch domain-containing protein 2 528 58.9 1 Nucleus speckle; Nucleus 0 0 0 1 5 2004-06-07 Q9NWB6 ARGL1_HUMAN ARGLU1 Arginine and glutamate-rich protein 1 273 33.2 13 Nucleus; Nucleus speckle; Chromosome 0 0 0 1 5 2007-05-29 Q9NWD9 BEX4_HUMAN BEX4 Protein BEX4 120 14.1 X Cytoplasm; Nucleus 0 0 0 1 5 2006-04-04 Q9NWH7 SPAT6_HUMAN SPATA6 Spermatogenesis-associated protein 6 488 56 1 Secreted; Cell projection 0 0 0 1 5 2007-02-20 Q9NWZ5 UCKL1_HUMAN UCKL1 Uridine-cytidine kinase-like 1 548 61.1 20 2.7.1.48 Cytoplasm; Nucleus 0 0 0 1 5 2002-05-02 Q9NX40 OCAD1_HUMAN OCIAD1 OCIA domain-containing protein 1 245 27.6 4 Endosome 0 0 0 1 5 2007-09-11 Q9NX52 RHBL2_HUMAN RHBDL2 Rhomboid-related protein 2 303 34 1 3.4.21.105 Cell membrane 7 0 0 1 5 2002-03-05 Q9NX65 ZSC32_HUMAN ZSCAN32 Zinc finger and SCAN domain-containing protein 32 697 78.7 16 Nucleus 0 0 0 1 5 2003-04-23 Q9NX95 SYBU_HUMAN SYBU Syntabulin 663 72.4 8 Cytoplasm; Cytoplasmic vesicle 1 0 0 1 5 2001-02-21 Q9NXF8 ZDHC7_HUMAN ZDHHC7 Palmitoyltransferase ZDHHC7 308 35.1 16 2.3.1.225 Golgi apparatus membrane 4 0 0 1 5 2003-02-01 Q9NXI6 RN186_HUMAN RNF186 E3 ubiquitin-protein ligase RNF186 227 24.1 1 2.3.2.27 Endoplasmic reticulum membrane 2 0 0 1 5 2006-11-28 Q9NXR5 ANR10_HUMAN ANKRD10 Ankyrin repeat domain-containing protein 10 420 44.8 13 0 0 0 1 5 2003-02-22 Q9NYM4 GPR83_HUMAN GPR83 G protein-coupled receptor 83 423 48.3 11 Cell membrane 7 0 0 1 5 2001-04-27 Q9NYP3 DONS_HUMAN DONSON Protein downstream neighbor of Son 566 62.7 21 Nucleus 0 3 Microcephaly-micromelia syndrome; Microcephaly, short stature, and limb abnormalities; Meier-Gorlin syndrome 10 0 1 5 2001-01-11 Q9NYQ7 CELR3_HUMAN CELSR3 Cadherin EGF LAG seven-pass G-type receptor 3 3312 358.2 3 Cell membrane 7 0 0 1 5 2002-08-02 Q9NZ72 STMN3_HUMAN STMN3 Stathmin-3 180 21 20 Golgi apparatus; Cell projection; Cytoplasm 0 0 0 1 5 2001-01-11 Q9NZ81 PRR13_HUMAN PRR13 Proline-rich protein 13 148 15.4 12 Nucleus 0 0 0 1 5 2006-06-27 Q9NZM4 BICRA_HUMAN BICRA BRD4-interacting chromatin-remodeling complex-associated protein 1560 158.5 19 Nucleus 0 1 Coffin-Siris syndrome 12 0 1 5 2001-09-26 Q9NZN4 EHD2_HUMAN EHD2 EH domain-containing protein 2 543 61.2 19 Cell membrane; Membrane; Endosome membrane; Cytoplasm 0 0 0 1 5 2001-09-26 Q9NZP8 C1RL_HUMAN C1RL Complement C1r subcomponent-like protein 487 53.5 12 3.4.21.- Secreted 0 0 0 1 5 2008-02-26 Q9NZU1 FLRT1_HUMAN FLRT1 Leucine-rich repeat transmembrane protein FLRT1 674 74.1 11 Cell membrane; Endoplasmic reticulum membrane; Cytoplasmic vesicle membrane; Cytoplasm; Cell junction; Secreted; Cell projection 1 0 0 1 5 2002-03-27 Q9NZV5 SELN_HUMAN SELENON Selenoprotein N 590 65.8 1 Endoplasmic reticulum membrane 0 1 Congenital myopathy 3 with rigid spine 0 1 5 2001-01-11 Q9NZV7 ZIM2_HUMAN ZIM2 Zinc finger imprinted 2 527 61.2 19 Nucleus 0 0 0 1 5 2002-03-27 Q9P003 CNIH4_HUMAN CNIH4 Protein cornichon homolog 4 139 16.1 1 Membrane; Endoplasmic reticulum; Endoplasmic reticulum-Golgi intermediate compartment 3 0 0 1 5 2000-12-08 Q9P055 JKAMP_HUMAN JKAMP JNK1/MAPK8-associated membrane protein 311 35.2 14 Endoplasmic reticulum membrane 7 1 Neurodevelopmental disorder with seizures and impaired intellectual and language development 0 1 5 2003-11-07 Q9P0K7 RAI14_HUMAN RAI14 Ankycorbin 980 110 5 Cytoplasm; Cell junction; Nucleus 0 0 0 1 5 2006-06-13 Q9P0K8 FOXJ2_HUMAN FOXJ2 Forkhead box protein J2 574 62.4 12 Nucleus 0 0 0 1 5 2001-04-27 Q9P0S3 ORML1_HUMAN ORMDL1 ORM1-like protein 1 153 17.4 2 Endoplasmic reticulum membrane 4 0 0 1 5 2005-11-08 Q9P0T4 ZN581_HUMAN ZNF581 Zinc finger protein 581 197 22 19 Nucleus 0 0 0 1 5 2004-11-23 Q9P127 LUZP4_HUMAN LUZP4 Leucine zipper protein 4 313 35.9 X Nucleus; Cytoplasm 0 0 0 1 5 2007-05-29 Q9P1Y5 CAMP3_HUMAN CAMSAP3 Calmodulin-regulated spectrin-associated protein 3 1249 134.8 19 Cytoplasm; Cell junction 0 0 0 1 5 2005-03-15 Q9P2A4 ABI3_HUMAN ABI3 ABI gene family member 3 366 39 17 Cytoplasm 0 0 0 1 5 2004-07-19 Q9P2B2 FPRP_HUMAN PTGFRN Prostaglandin F2 receptor negative regulator 879 98.6 1 Endoplasmic reticulum membrane; Golgi apparatus 1 0 0 1 5 2003-02-01 Q9P2D3 HTR5B_HUMAN HEATR5B HEAT repeat-containing protein 5B 2071 224.3 2 Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 2007-12-04 Q9P2K5 MYEF2_HUMAN MYEF2 Myelin expression factor 2 600 64.1 15 Nucleus 0 0 0 1 5 2005-04-26 Q9P2M1 LR2BP_HUMAN LRP2BP LRP2-binding protein 347 39.8 4 Cytoplasm 0 0 0 1 5 2008-01-15 Q9P2M7 CING_HUMAN CGN Cingulin 1203 137.1 1 Cell junction 0 0 0 1 5 2003-01-27 Q9P2W3 GBG13_HUMAN GNG13 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 67 7.9 16 Cell membrane 0 0 0 1 5 2002-01-31 Q9P2W9 STX18_HUMAN STX18 Syntaxin-18 335 38.7 4 Endoplasmic reticulum membrane; Golgi apparatus membrane 1 0 0 1 5 2001-11-16 Q9P2X3 IMPCT_HUMAN IMPACT Protein IMPACT 320 36.5 18 Cytoplasm 0 0 0 1 5 2008-04-29 Q9P2Y4 ZN219_HUMAN ZNF219 Zinc finger protein 219 722 76.9 14 Nucleus 0 0 0 1 5 2001-01-11 Q9UBC7 GALP_HUMAN GALP Galanin-like peptide 116 12.5 19 Secreted 0 0 0 1 5 2002-02-11 Q9UBL6 CPNE7_HUMAN CPNE7 Copine-7 633 70.3 16 Cytoplasm; Nucleus; Cell membrane 0 0 0 1 5 2000-12-01 Q9UBN1 CCG4_HUMAN CACNG4 Voltage-dependent calcium channel gamma-4 subunit 327 36.6 17 Cell membrane 4 0 0 1 5 2000-12-01 Q9UBP4 DKK3_HUMAN DKK3 Dickkopf-related protein 3 350 38.4 11 Secreted 0 0 0 1 5 2001-02-21 Q9UBP5 HEY2_HUMAN HEY2 Hairy/enhancer-of-split related with YRPW motif protein 2 337 35.8 6 Nucleus 0 0 0 1 5 2006-07-11 Q9UBT7 CTNL1_HUMAN CTNNAL1 Alpha-catulin 734 81.9 9 Cytoplasm; Cell membrane 0 0 0 1 5 2005-02-01 Q9UBU2 DKK2_HUMAN DKK2 Dickkopf-related protein 2 259 28.4 4 Secreted 0 0 0 1 5 2001-02-21 Q9UBX5 FBLN5_HUMAN FBLN5 Fibulin-5 448 50.2 14 Secreted 0 4 Charcot-Marie-Tooth disease, demyelinating, type 1H; Cutis laxa, autosomal dominant, 2; Cutis laxa, autosomal recessive, 1A; Macular degeneration, age-related, 3 0 1 5 2000-12-01 Q9UDX5 MTFP1_HUMAN MTFP1 Mitochondrial fission process protein 1 166 18 22 Mitochondrion inner membrane 3 0 0 1 5 2004-09-27 Q9UEG4 ZN629_HUMAN ZNF629 Zinc finger protein 629 869 96.6 16 Nucleus 0 0 0 1 5 2007-03-20 Q9UF11 PKHB1_HUMAN PLEKHB1 Pleckstrin homology domain-containing family B member 1 243 27.2 11 Membrane; Cytoplasm 0 0 0 1 5 2004-03-29 Q9UF12 HYPDH_HUMAN PRODH2 Hydroxyproline dehydrogenase 460 50.9 19 1.5.5.3 0 0 0 1 5 2007-10-23 Q9UF33 EPHA6_HUMAN EPHA6 Ephrin type-A receptor 6 1036 116.4 3 2.7.10.1 Membrane 1 0 0 1 5 2006-05-16 Q9UFC0 LRWD1_HUMAN LRWD1 Leucine-rich repeat and WD repeat-containing protein 1 647 70.9 7 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 2007-11-13 Q9UFG5 CS025_HUMAN C19orf25 UPF0449 protein C19orf25 118 12.9 19 0 0 0 1 5 2006-10-17 Q9UG56 PISD_HUMAN PISD Phosphatidylserine decarboxylase proenzyme, mitochondrial 409 46.7 22 4.1.1.65 Mitochondrion inner membrane 1 1 Liberfarb syndrome 0 1 5 2003-05-30 Q9UGK8 SRGEF_HUMAN SERGEF Secretion-regulating guanine nucleotide exchange factor 458 49 11 Cytoplasm; Nucleus 0 0 0 1 5 2003-10-31 Q9UGU0 TCF20_HUMAN TCF20 Transcription factor 20 1960 211.8 22 Nucleus 0 1 Developmental delay with variable intellectual impairment and behavioral abnormalities 0 1 5 2002-08-02 Q9UH92 MLX_HUMAN MLX Max-like protein X 298 33.3 17 Cytoplasm 0 0 0 1 5 2002-01-23 Q9UHK6 AMACR_HUMAN AMACR Alpha-methylacyl-CoA racemase 382 42.4 5 5.1.99.4 Peroxisome; Mitochondrion 0 2 Alpha-methylacyl-CoA racemase deficiency; Congenital bile acid synthesis defect 4 0 1 5 2001-04-27 Q9UHQ1 NARF_HUMAN NARF Nuclear prelamin A recognition factor 456 51.2 17 Nucleus 0 0 0 1 5 2007-05-29 Q9UHW5 GPN3_HUMAN GPN3 GPN-loop GTPase 3 284 32.8 12 3.6.5.- Cytoplasm; Nucleus 0 0 0 1 5 2007-09-11 Q9UI08 EVL_HUMAN EVL Ena/VASP-like protein 416 44.6 14 Cytoplasm; Cell projection 0 0 0 1 5 2002-11-15 Q9UI47 CTNA3_HUMAN CTNNA3 Catenin alpha-3 895 99.8 10 Cytoplasm; Cell junction 0 1 Arrhythmogenic right ventricular dysplasia, familial, 13 0 1 5 2005-10-25 Q9UIA0 CYH4_HUMAN CYTH4 Cytohesin-4 394 45.7 22 Cell membrane 0 0 0 1 5 2001-02-21 Q9UIA9 XPO7_HUMAN XPO7 Exportin-7 1087 123.9 8 Cytoplasm; Nucleus 0 0 0 1 5 2001-11-02 Q9UIG4 PS1C2_HUMAN PSORS1C2 Psoriasis susceptibility 1 candidate gene 2 protein 136 15.1 6 Secreted 0 0 0 1 5 2003-11-21 Q9UJ83 HACL1_HUMAN HACL1 2-hydroxyacyl-CoA lyase 1 578 63.7 3 4.1.2.63 Peroxisome 0 0 0 1 5 2002-05-02 Q9UJD0 RIMS3_HUMAN RIMS3 Regulating synaptic membrane exocytosis protein 3 308 32.8 1 Synapse 0 0 0 1 5 2004-01-16 Q9UJW9 SRTD3_HUMAN SERTAD3 SERTA domain-containing protein 3 196 21.8 19 Nucleus 0 0 0 1 5 2005-02-01 Q9UK23 NAGPA_HUMAN NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 515 56.1 16 3.1.4.45 Golgi apparatus 1 0 0 1 5 2004-12-21 Q9UKA8 RCAN3_HUMAN RCAN3 Calcipressin-3 241 27.5 1 0 0 0 1 5 2001-08-14 Q9UKG4 S13A4_HUMAN SLC13A4 Solute carrier family 13 member 4 626 69.4 7 Membrane 12 0 0 1 5 2002-09-19 Q9UKJ8 ADA21_HUMAN ADAM21 Disintegrin and metalloproteinase domain-containing protein 21 722 80.8 14 3.4.24.- Membrane 1 0 0 1 5 2001-06-01 Q9UKP3 ITBP2_HUMAN ITGB1BP2 Integrin beta-1-binding protein 2 347 38.4 X 0 0 0 1 5 2002-01-31 Q9UKP4 ATS7_HUMAN ADAMTS7 A disintegrin and metalloproteinase with thrombospondin motifs 7 1686 184.1 15 3.4.24.- Secreted 0 0 0 1 5 2000-12-01 Q9UKP5 ATS6_HUMAN ADAMTS6 A disintegrin and metalloproteinase with thrombospondin motifs 6 1117 125.3 5 3.4.24.- Secreted 0 0 0 1 5 2000-12-01 Q9UKQ2 ADA28_HUMAN ADAM28 Disintegrin and metalloproteinase domain-containing protein 28 775 87.1 8 3.4.24.- Cell membrane 1 0 0 1 5 2001-06-20 Q9UKR0 KLK12_HUMAN KLK12 Kallikrein-12 248 26.7 19 3.4.21.- Secreted 0 0 0 1 5 2000-12-01 Q9UKR5 ERG28_HUMAN ERG28 Ergosterol biosynthetic protein 28 homolog 140 15.9 14 Endoplasmic reticulum membrane 4 0 0 1 5 2001-04-27 Q9UKU6 TRHDE_HUMAN TRHDE Thyrotropin-releasing hormone-degrading ectoenzyme 1069 122.1 12 3.4.19.6 Membrane 1 0 0 1 5 2000-12-01 Q9UKX2 MYH2_HUMAN MYH2 Myosin-2 1941 223 17 Cytoplasm 0 1 Congenital myopathy 6 with ophthalmoplegia 0 1 5 2001-04-27 Q9UL12 SARDH_HUMAN SARDH Sarcosine dehydrogenase, mitochondrial 918 101 9 1.5.8.3 Mitochondrion matrix 0 1 Sarcosinemia 0 1 5 2004-09-13 Q9UL41 PNMA3_HUMAN PNMA3 Paraneoplastic antigen Ma3 463 52.4 X Nucleus 0 0 0 1 5 2007-03-20 Q9ULE6 PALD_HUMAN PALD1 Paladin 856 96.8 10 Cytoplasm 0 0 0 1 5 2007-05-01 Q9ULI4 KI26A_HUMAN KIF26A Kinesin-like protein KIF26A 1882 194.6 14 Cytoplasm 0 1 Cortical dysplasia, complex, with other brain malformations 11 0 1 5 2007-10-23 Q9ULL4 PLXB3_HUMAN PLXNB3 Plexin-B3 1909 206.8 X Cell membrane 1 0 0 1 5 2004-08-31 Q9ULM2 ZN490_HUMAN ZNF490 Zinc finger protein 490 529 61.3 19 Nucleus 0 0 0 1 5 2002-02-21 Q9ULP9 TBC24_HUMAN TBC1D24 TBC1 domain family member 24 559 62.9 16 Cell membrane; Cytoplasm; Cytoplasmic vesicle membrane; Presynapse; Postsynapse; Cell projection; Perikaryon; Cytoplasmic vesicle 0 6 Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy 16; Deafness, autosomal dominant, 65; Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome; Deafness, autosomal recessive, 86; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp 0 1 5 2007-05-29 Q9ULQ1 TPC1_HUMAN TPCN1 Two pore channel protein 1 816 94.1 12 Lysosome membrane; Endosome membrane; Early endosome membrane; Recycling endosome membrane 12 0 0 1 5 2007-02-06 Q9ULT0 TTC7A_HUMAN TTC7A Tetratricopeptide repeat protein 7A 858 96.2 2 Cytoplasm; Cell membrane 0 1 Gastrointestinal defects and immunodeficiency syndrome 1 0 1 5 2001-06-01 Q9UM19 HPCL4_HUMAN HPCAL4 Hippocalcin-like protein 4 191 22.2 1 0 0 0 1 5 2004-08-16 Q9UM63 PLAL1_HUMAN PLAGL1 Zinc finger protein PLAGL1 463 50.8 6 Nucleus 0 1 Diabetes mellitus, transient neonatal, 1 0 1 5 2001-06-20 Q9UMQ6 CAN11_HUMAN CAPN11 Calpain-11 739 84.4 6 3.4.22.- Cytoplasmic vesicle 0 0 0 1 5 2001-01-11 Q9UN73 PCDA6_HUMAN PCDHA6 Protocadherin alpha-6 950 102.7 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9UN74 PCDA4_HUMAN PCDHA4 Protocadherin alpha-4 947 102.3 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9UN88 GBRT_HUMAN GABRQ Gamma-aminobutyric acid receptor subunit theta 632 72 X Postsynaptic cell membrane; Cell membrane 4 0 0 1 5 2001-05-04 Q9UNA3 A4GCT_HUMAN A4GNT Alpha-1,4-N-acetylglucosaminyltransferase 340 39.5 3 2.4.1.- Golgi apparatus membrane 1 0 0 1 5 2002-11-25 Q9UNH7 SNX6_HUMAN SNX6 Sorting nexin-6 406 46.6 14 Early endosome; Early endosome membrane; Cytoplasmic vesicle; Cytoplasm; Nucleus 0 0 0 1 5 2000-12-01 Q9UNP4 SIAT9_HUMAN ST3GAL5 Lactosylceramide alpha-2,3-sialyltransferase 418 48 2 2.4.3.9 Golgi apparatus membrane 1 1 Salt and pepper developmental regression syndrome 0 1 5 2002-07-11 Q9UP83 COG5_HUMAN COG5 Conserved oligomeric Golgi complex subunit 5 860 94.9 7 Cytoplasm; Golgi apparatus membrane 0 1 Congenital disorder of glycosylation 2I 0 1 5 2002-08-30 Q9UPA5 BSN_HUMAN BSN Protein bassoon 3926 416.5 3 Cytoplasm; Presynaptic active zone; Cytoplasmic vesicle 0 0 0 1 5 2004-08-16 Q9UPN7 PP6R1_HUMAN PPP6R1 Serine/threonine-protein phosphatase 6 regulatory subunit 1 881 96.7 19 Cytoplasm 0 0 0 1 5 2002-11-25 Q9UPS8 ANR26_HUMAN ANKRD26 Ankyrin repeat domain-containing protein 26 1710 196.4 10 0 1 Thrombocytopenia 2 0 1 5 2006-06-27 Q9UPU5 UBP24_HUMAN USP24 Ubiquitin carboxyl-terminal hydrolase 24 2620 294.4 1 3.4.19.12 0 0 0 1 5 2001-06-20 Q9UPW8 UN13A_HUMAN UNC13A Protein unc-13 homolog A 1703 193 19 Cytoplasm; Cell membrane; Presynaptic cell membrane; Presynaptic active zone 0 3 Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech; Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures; Intellectual development disorder with seizures and dysmorphic facies 0 1 5 2004-08-16 Q9UPX6 MNAR1_HUMAN MINAR1 Major intrinsically disordered Notch2-binding receptor 1 916 103 15 Cell membrane 1 0 0 1 5 2003-07-11 Q9UQ05 KCNH4_HUMAN KCNH4 Voltage-gated delayed rectifier potassium channel KCNH4 1017 111.7 17 Membrane 6 0 0 1 5 2002-11-28 Q9UQ49 NEUR3_HUMAN NEU3 Sialidase-3 428 48.3 11 3.2.1.18 Cell membrane; Membrane; Early endosome membrane; Recycling endosome membrane; Lysosome membrane 0 0 0 1 5 2001-11-16 Q9UQ52 CNTN6_HUMAN CNTN6 Contactin-6 1028 114 3 Cell membrane 0 0 0 1 5 2004-11-23 Q9UQ88 CD11A_HUMAN CDK11A Cyclin-dependent kinase 11A 783 91.4 1 2.7.11.22, 2.7.11.23 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 2003-09-19 Q9Y216 MTMR7_HUMAN MTMR7 Phosphatidylinositol-3-phosphate phosphatase MTMR7 660 75.8 8 3.1.3.64 Cytoplasm; Endomembrane system 0 0 0 1 5 2000-12-01 Q9Y226 S22AD_HUMAN SLC22A13 Solute carrier family 22 member 13 551 60.9 3 Apical cell membrane 12 0 0 1 5 2006-04-04 Q9Y242 TCF19_HUMAN TCF19 Transcription factor 19 345 37.2 6 Nucleus 0 0 0 1 5 2004-02-16 Q9Y252 RNF6_HUMAN RNF6 E3 ubiquitin-protein ligase RNF6 685 78.1 13 2.3.2.27 Nucleus; Cytoplasm; Cell projection 0 1 Esophageal cancer 0 1 5 2001-02-21 Q9Y277 VDAC3_HUMAN VDAC3 Non-selective voltage-gated ion channel VDAC3 283 30.7 8 Mitochondrion outer membrane; Membrane 19 0 0 1 5 2000-12-01 Q9Y2B4 T53G5_HUMAN TP53TG5 TP53-target gene 5 protein 290 34 20 Cytoplasm; Nucleus 0 0 0 1 5 2002-10-10 Q9Y2C5 S17A4_HUMAN SLC17A4 Probable small intestine urate exporter 497 54.1 6 Apical cell membrane 10 0 0 1 5 2008-02-05 Q9Y2G9 SBNO2_HUMAN SBNO2 Protein strawberry notch homolog 2 1366 150.3 19 0 0 0 1 5 2008-01-15 Q9Y2J0 RP3A_HUMAN RPH3A Rabphilin-3A 694 76.9 12 Cytoplasmic vesicle; Cell projection; Postsynaptic cell membrane; Membrane 0 0 0 1 5 2001-04-27 Q9Y2M2 SSUH2_HUMAN SSUH2 Protein SSUH2 homolog 375 42.7 3 Cytoplasm; Nucleus 0 1 Dentin dysplasia 1C 0 1 5 2006-11-28 Q9Y2P0 ZN835_HUMAN ZNF835 Zinc finger protein 835 537 59.6 19 Nucleus 0 0 0 1 5 2008-02-26 Q9Y2P5 S27A5_HUMAN SLC27A5 Long-chain fatty acid transport protein 5 690 75.4 19 Endoplasmic reticulum membrane; Microsome; Cell membrane 2 0 0 1 5 2005-11-22 Q9Y2V3 RX_HUMAN RAX Retinal homeobox protein Rx 346 36.7 18 Nucleus 0 1 Microphthalmia, syndromic 16 0 1 5 2001-09-26 Q9Y2X7 GIT1_HUMAN GIT1 ARF GTPase-activating protein GIT1 761 84.3 17 Cytoplasm; Synapse; Presynapse; Postsynapse; Postsynaptic density; Cell junction; Cell projection 0 0 0 1 5 2001-10-18 Q9Y2Y9 KLF13_HUMAN KLF13 Krueppel-like factor 13 288 31.2 15 Nucleus 0 0 0 1 5 2001-11-02 Q9Y315 DEOC_HUMAN DERA Deoxyribose-phosphate aldolase 318 35.2 12 4.1.2.4 Cytoplasm; Cytoplasmic granule; Nucleus 0 0 0 1 5 2002-11-01 Q9Y336 SIGL9_HUMAN SIGLEC9 Sialic acid-binding Ig-like lectin 9 463 50.1 19 Membrane 1 0 0 1 5 2002-11-08 Q9Y3D7 TIM16_HUMAN PAM16 Mitochondrial import inner membrane translocase subunit TIM16 125 13.8 16 Mitochondrion inner membrane 0 1 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 0 1 5 2000-05-30 Q9Y3S2 ZN330_HUMAN ZNF330 Zinc finger protein 330 320 36.2 4 Nucleus; Chromosome 0 0 0 1 5 2004-08-31 Q9Y496 KIF3A_HUMAN KIF3A Kinesin-like protein KIF3A 699 80 5 3.6.4.- Cytoplasm; Cell projection 0 0 0 1 5 2000-05-30 Q9Y4A8 NF2L3_HUMAN NFE2L3 Nuclear factor erythroid 2-related factor 3 694 76.2 7 Nucleus 0 0 0 1 5 2004-12-07 Q9Y4E1 WAC2C_HUMAN WASHC2C WASH complex subunit 2C 1341 147.2 10 Early endosome membrane; Cell membrane 0 0 0 1 5 2005-07-19 Q9Y4H4 GPSM3_HUMAN GPSM3 G protein-signaling modulator 3 160 17.9 6 Cytoplasm 0 0 0 1 5 2006-05-02 Q9Y508 RN114_HUMAN RNF114 E3 ubiquitin-protein ligase RNF114 228 25.7 20 2.3.2.27 Cytoplasm; Nucleus 0 0 0 1 5 2002-01-23 Q9Y520 PRC2C_HUMAN PRRC2C Protein PRRC2C 2896 316.9 1 Cytoplasm 0 0 0 1 5 2008-09-02 Q9Y574 ASB4_HUMAN ASB4 Ankyrin repeat and SOCS box protein 4 426 48.2 7 Cytoplasm 0 0 0 1 5 2002-05-10 Q9Y592 CEP83_HUMAN CEP83 Centrosomal protein of 83 kDa 701 82.9 12 Cytoplasm 0 1 Nephronophthisis 18 0 1 5 2006-05-16 Q9Y5A6 ZSC21_HUMAN ZSCAN21 Zinc finger and SCAN domain-containing protein 21 473 53.7 7 Nucleus 0 0 0 1 5 2000-12-01 Q9Y5F1 PCDBC_HUMAN PCDHB12 Protocadherin beta-12 795 86.8 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5F2 PCDBB_HUMAN PCDHB11 Protocadherin beta-11 797 87.1 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5I7 CLD16_HUMAN CLDN16 Claudin-16 235 26.1 3 Cell junction; Cell membrane 4 1 Hypomagnesemia 3 0 1 5 2000-05-30 Q9Y5L2 HLPDA_HUMAN HILPDA Hypoxia-inducible lipid droplet-associated protein 63 7 7 Lipid droplet; Secreted; Membrane 1 0 0 1 5 2000-05-30 Q9Y5T4 DJC15_HUMAN DNAJC15 DnaJ homolog subfamily C member 15 150 16.4 13 Mitochondrion inner membrane 1 0 0 1 5 2006-07-25 Q9Y5X2 SNX8_HUMAN SNX8 Sorting nexin-8 465 52.6 7 Early endosome membrane 0 0 0 1 5 2000-12-01 Q9Y5Y5 PEX16_HUMAN PEX16 Peroxisomal membrane protein PEX16 336 38.6 11 Peroxisome membrane 2 3 Peroxisome biogenesis disorder complementation group 9; Peroxisome biogenesis disorder 8A; Peroxisome biogenesis disorder 8B 0 1 5 2002-04-16 Q9Y5Z7 HCFC2_HUMAN HCFC2 Host cell factor 2 792 86.8 12 Cytoplasm; Nucleus 0 0 0 1 5 2005-04-26 Q9Y5Z9 UBIA1_HUMAN UBIAD1 UbiA prenyltransferase domain-containing protein 1 338 36.8 1 2.5.1.-, 2.5.1.39 Endoplasmic reticulum membrane; Golgi apparatus membrane; Mitochondrion membrane; Cytoplasm; Nucleus 8 1 Corneal dystrophy, Schnyder type 0 1 5 2006-06-27 Q9Y625 GPC6_HUMAN GPC6 Glypican-6 555 62.7 13 Cell membrane 0 1 Omodysplasia 1 0 1 5 2000-12-01 Q9Y646 CBPQ_HUMAN CPQ Carboxypeptidase Q 472 51.9 8 3.4.17.- Endoplasmic reticulum; Golgi apparatus; Lysosome; Secreted 0 0 0 1 5 2007-12-04 Q9Y672 ALG6_HUMAN ALG6 Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase 507 58.1 1 2.4.1.267 Endoplasmic reticulum membrane 11 1 Congenital disorder of glycosylation 1C 0 1 5 2002-05-27 Q9Y680 FKBP7_HUMAN FKBP7 Peptidyl-prolyl cis-trans isomerase FKBP7 222 25.8 2 5.2.1.8 Endoplasmic reticulum lumen 0 0 0 1 5 2002-09-19 Q9Y6H8 CXA3_HUMAN GJA3 Gap junction alpha-3 protein 435 47.4 13 Cell membrane; Cell junction 4 1 Cataract 14, multiple types 0 1 5 2000-12-01 Q9Y6N8 CAD10_HUMAN CDH10 Cadherin-10 788 88.5 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y6R4 M3K4_HUMAN MAP3K4 Mitogen-activated protein kinase kinase kinase 4 1608 181.7 6 2.7.11.25 Cytoplasm 0 0 0 1 5 2000-05-30 A0A087X1C5 CP2D7_HUMAN CYP2D7 Cytochrome P450 2D7 515 57.5 22 1.14.14.1 Membrane; Cytoplasm; Mitochondrion 2 0 0 1 5 2015-04-01 A0A0B4J2F0 PIOS1_HUMAN PIGBOS1 Protein PIGBOS1 54 6.3 15 Mitochondrion outer membrane 1 0 0 1 5 2015-09-16 A0A0K2S4Q6 CD3CH_HUMAN CD300H Protein CD300H 201 21.8 17 Membrane 1 0 0 1 5 2018-11-07 A0PJK1 SC5AA_HUMAN SLC5A10 Sodium/mannose cotransporter SLC5A10 596 64.3 17 Apical cell membrane 14 0 0 1 5 2007-11-13 A2IDD5 CCD78_HUMAN CCDC78 Coiled-coil domain-containing protein 78 438 48.5 16 Cytoplasm; Cell membrane; Sarcoplasmic reticulum 0 1 Myopathy, centronuclear, 4 0 1 5 2007-06-26 A2RRP1 NBAS_HUMAN NBAS NBAS subunit of NRZ tethering complex 2371 268.6 2 Cytoplasm; Endoplasmic reticulum; Endoplasmic reticulum membrane 0 2 Short stature, optic nerve atrophy, and Pelger-Huet anomaly; Infantile liver failure syndrome 2 0 1 5 2007-06-26 A2RU30 TESP1_HUMAN TESPA1 Protein TESPA1 521 59.2 12 Cytoplasm; Endoplasmic reticulum membrane 0 0 0 1 5 2008-01-15 A2RUB1 MEIOC_HUMAN MEIOC Meiosis-specific coiled-coil domain-containing protein MEIOC 952 107.6 17 Cytoplasm; Nucleus 0 0 0 1 5 2008-03-18 A3KMH1 VWA8_HUMAN VWA8 von Willebrand factor A domain-containing protein 8 1905 214.8 13 Mitochondrion 0 1 Retinitis pigmentosa 97 0 1 5 2008-07-22 A4D161 F221A_HUMAN FAM221A Protein FAM221A 298 33.1 7 0 0 0 1 5 2007-07-10 A6NDG6 PGP_HUMAN PGP Phosphoglycolate phosphatase 321 34 16 3.1.3.18 0 0 0 1 5 2008-02-05 A6NHX0 CAST2_HUMAN CASTOR2 Cytosolic arginine sensor for mTORC1 subunit 2 329 36.1 7 Cytoplasm 0 0 0 1 5 2008-06-10 A6NI15 MSGN1_HUMAN MSGN1 Mesogenin-1 193 20.8 2 Nucleus 0 0 0 1 5 2008-04-29 A6NMY6 AXA2L_HUMAN ANXA2P2 Putative annexin A2-like protein 339 38.7 Secreted; Melanosome 0 0 0 5 5 2008-07-22 A6NMZ7 CO6A6_HUMAN COL6A6 Collagen alpha-6(VI) chain 2263 247.2 3 Secreted 0 0 0 1 5 2008-05-20 A6NNY8 UBP27_HUMAN USP27X Ubiquitin carboxyl-terminal hydrolase 27 438 49.6 X 3.4.19.12 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, X-linked 105 0 1 5 2007-10-02 A8MPY1 GBRR3_HUMAN GABRR3 Gamma-aminobutyric acid receptor subunit rho-3 467 54.3 3 Postsynaptic cell membrane; Cell membrane 4 0 0 3 5 2008-04-29 A8MTJ6 FOXI3_HUMAN FOXI3 Forkhead box protein I3 420 43.3 2 Nucleus 0 1 Craniofacial microsomia 2 0 1 5 2008-06-10 A8MTQ0 NOTO_HUMAN NOTO Homeobox protein notochord 251 27 2 Nucleus 0 0 0 1 5 2008-07-01 A8MUP2 CSKMT_HUMAN CSKMT Citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial 240 25.9 11 2.1.1.- Mitochondrion 0 0 0 1 5 2008-09-02 A8MVW5 HECA2_HUMAN HEPACAM2 HEPACAM family member 2 462 51.4 7 Golgi apparatus membrane; Cytoplasm; Midbody 1 0 0 1 5 2008-04-29 B0I1T2 MYO1G_HUMAN MYO1G Unconventional myosin-Ig 1018 116.4 7 Cell membrane; Cell projection 0 0 0 1 5 2008-06-10 B0YJ81 HACD1_HUMAN HACD1 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 1 288 32.4 10 4.2.1.134 Endoplasmic reticulum membrane 6 1 Congenital myopathy 11 0 1 5 2008-09-02 C9JR72 KBTBD_HUMAN KBTBD13 Kelch repeat and BTB domain-containing protein 13 458 49.5 15 Cytoplasm 0 1 Nemaline myopathy 6 0 1 5 2010-05-18 E9PQX1 CTSRH_HUMAN CATSPERH Cation channel sperm-associated auxiliary subunit eta 116 13.8 11 Cell projection 3 0 0 1 5 2014-01-22 F5H094 SO1BT_HUMAN SLCO1B3-SLCO1B7 SLCO1B3-SLCO1B7 readthrough transcript protein 687 76.3 12 Smooth endoplasmic reticulum membrane; Cell membrane; Endoplasmic reticulum membrane 12 0 0 1 5 2022-12-14 H0YL14 TM250_HUMAN TMEM250 Transmembrane protein 250 139 16.1 9 Membrane; Nucleus; Cytoplasm 2 0 0 1 5 2013-02-06 O00144 FZD9_HUMAN FZD9 Frizzled-9 591 64.5 7 Cell membrane 7 0 0 1 5 2001-12-05 O00160 MYO1F_HUMAN MYO1F Unconventional myosin-If 1098 124.8 19 Cytoplasm; Cell membrane 0 0 0 1 5 2001-04-27 O00192 ARVC_HUMAN ARVCF Splicing regulator ARVCF 962 104.6 22 Cell junction; Nucleus; Cytoplasm 0 0 0 1 5 2000-12-01 O00233 PSMD9_HUMAN PSMD9 26S proteasome non-ATPase regulatory subunit 9 223 24.7 12 0 0 0 1 5 1998-12-15 O00341 EAA5_HUMAN SLC1A7 Excitatory amino acid transporter 5 560 60.7 1 Photoreceptor inner segment membrane; Synaptic cell membrane 10 0 0 1 5 1998-07-15 O00501 CLD5_HUMAN CLDN5 Claudin-5 218 23.1 22 Cell junction; Cell membrane 4 0 0 1 5 2000-05-30 O00526 UPK2_HUMAN UPK2 Uroplakin-2 184 19.4 11 Cell membrane 1 0 0 1 5 1997-11-01 O00533 NCHL1_HUMAN CHL1 Neural cell adhesion molecule L1-like protein 1208 135.1 3 Cell membrane 1 0 0 1 5 2006-07-25 O00592 PODXL_HUMAN PODXL Podocalyxin 558 58.6 7 Apical cell membrane; Cell projection; Membrane raft; Membrane 1 0 0 1 5 2001-12-13 O00716 E2F3_HUMAN E2F3 Transcription factor E2F3 465 49.2 6 Nucleus 0 0 0 1 5 1997-11-01 O00743 PPP6_HUMAN PPP6C Serine/threonine-protein phosphatase 6 catalytic subunit 305 35.1 9 3.1.3.16 Mitochondrion; Cytoplasm 0 0 0 1 5 1998-07-15 O00744 WN10B_HUMAN WNT10B Protein Wnt-10b 389 43 12 Secreted 0 2 Split-hand/foot malformation 6; Tooth agenesis, selective, 8 0 1 5 1997-11-01 O00750 P3C2B_HUMAN PIK3C2B Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit beta 1634 184.8 1 2.7.1.137, 2.7.1.154 Microsome; Cell membrane; Cytoplasm; Nucleus; Endoplasmic reticulum 0 0 0 1 5 2001-04-27 O14495 PLPP3_HUMAN PLPP3 Phospholipid phosphatase 3 311 35.1 1 3.1.3.-, 3.1.3.4 Cell membrane; Basolateral cell membrane; Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus membrane; Golgi apparatus; Membrane raft 6 0 0 1 5 2004-03-15 O14530 TXND9_HUMAN TXNDC9 Thioredoxin domain-containing protein 9 226 26.5 2 Cytoplasm; Nucleus; Midbody 0 0 0 1 5 1999-07-15 O14543 SOCS3_HUMAN SOCS3 Suppressor of cytokine signaling 3 225 24.8 17 0 0 0 1 5 2002-04-16 O14559 RHG33_HUMAN ARHGAP33 Rho GTPase-activating protein 33 1287 137.2 19 0 0 0 1 5 2002-03-27 O14578 CTRO_HUMAN CIT Citron Rho-interacting kinase 2027 231.4 12 2.7.11.1 Cytoplasm 0 1 Microcephaly 17, primary, autosomal recessive 0 1 5 2000-05-30 O14594 NCAN_HUMAN NCAN Neurocan core protein 1321 143.1 19 Secreted 0 0 0 1 5 2003-01-27 O14647 CHD2_HUMAN CHD2 ATP-dependent chromatin remodeler CHD2 1828 211.3 15 3.6.4.- Nucleus 0 1 Developmental and epileptic encephalopathy 94 0 1 5 1998-07-15 O14681 EI24_HUMAN EI24 Etoposide-induced protein 2.4 homolog 340 39 11 Nucleus membrane; Cytoplasm; Endoplasmic reticulum membrane 5 0 0 1 5 2000-05-30 O14735 CDIPT_HUMAN CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase 213 23.5 16 2.7.8.11 Endoplasmic reticulum membrane; Cell membrane 6 0 0 1 5 1998-12-15 O14772 FPGT_HUMAN FPGT Fucose-1-phosphate guanylyltransferase 607 68 1 2.7.7.30 Cytoplasm 0 0 0 1 5 2003-01-10 O14795 UN13B_HUMAN UNC13B Protein unc-13 homolog B 1591 180.7 9 Cytoplasm; Membrane; Cell membrane; Synapse 0 0 0 1 5 2004-08-16 O14827 RGRF2_HUMAN RASGRF2 Ras-specific guanine nucleotide-releasing factor 2 1237 140.8 5 Cytoplasm; Cell membrane; Endoplasmic reticulum membrane 0 0 0 1 5 2007-12-04 O14901 KLF11_HUMAN KLF11 Krueppel-like factor 11 512 55.1 2 Nucleus 0 1 Maturity-onset diabetes of the young 7 0 1 5 2000-12-01 O14904 WNT9A_HUMAN WNT9A Protein Wnt-9a 365 40.3 1 Secreted 0 0 0 1 5 1998-07-15 O14905 WNT9B_HUMAN WNT9B Protein Wnt-9b 357 39 17 Secreted 0 0 0 1 5 1998-07-15 O14978 ZN263_HUMAN ZNF263 Zinc finger protein 263 683 77.3 16 Nucleus 0 0 0 1 5 2000-05-30 O15013 ARHGA_HUMAN ARHGEF10 Rho guanine nucleotide exchange factor 10 1369 151.6 8 0 1 Slowed nerve conduction velocity 0 1 5 2004-07-05 O15018 PDZD2_HUMAN PDZD2 PDZ domain-containing protein 2 2839 301.6 5 Nucleus; Cytoplasm; Endoplasmic reticulum 0 0 0 1 5 2005-01-04 O15027 SC16A_HUMAN SEC16A Protein transport protein Sec16A 2357 251.9 9 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasm; Microsome membrane 0 0 0 1 5 1998-07-15 O15182 CETN3_HUMAN CETN3 Centrin-3 167 19.6 5 Cytoplasm; Nucleus; Nucleus envelope 0 0 0 1 5 2000-05-30 O15243 OBRG_HUMAN LEPROT Leptin receptor gene-related protein 131 14.3 1 Golgi apparatus membrane; Endosome membrane 4 0 0 1 5 1999-07-15 O15258 RER1_HUMAN RER1 Protein RER1 196 23 1 Golgi apparatus membrane; Golgi apparatus 4 0 0 1 5 2000-05-30 O15327 INP4B_HUMAN INPP4B Inositol polyphosphate 4-phosphatase type II 924 104.7 4 0 0 0 1 5 2005-08-30 O15374 MOT5_HUMAN SLC16A4 Probable monocarboxylate transporter 5 487 54 1 Cell membrane 12 0 0 1 5 2000-05-30 O15391 TYY2_HUMAN YY2 Transcription factor YY2 372 41.3 X Nucleus 0 0 0 1 5 2008-03-18 O15405 TOX3_HUMAN TOX3 TOX high mobility group box family member 3 576 63.3 16 Nucleus 0 0 0 1 5 2007-05-01 O15457 MSH4_HUMAN MSH4 MutS protein homolog 4 936 104.8 1 Chromosome 0 2 Spermatogenic failure 2; Premature ovarian failure 20 0 1 5 1998-12-15 O15466 SIA8E_HUMAN ST8SIA5 Alpha-2,8-sialyltransferase 8E 376 43.9 18 2.4.99.- Golgi apparatus membrane 1 0 0 1 5 2002-07-11 O15529 GPR42_HUMAN GPR42 G protein-coupled receptor 42 346 38.7 19 Cell membrane 7 0 0 1 5 1998-07-15 O43164 PJA2_HUMAN PJA2 E3 ubiquitin-protein ligase Praja-2 708 78.2 5 2.3.2.27 Cytoplasm; Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Synapse; Postsynaptic density 0 0 0 1 5 2007-02-20 O43174 CP26A_HUMAN CYP26A1 Cytochrome P450 26A1 497 56.2 10 1.14.13.- Endoplasmic reticulum membrane; Microsome membrane 0 0 0 1 5 1998-12-15 O43283 M3K13_HUMAN MAP3K13 Mitogen-activated protein kinase kinase kinase 13 966 108.3 3 2.7.11.25 Cytoplasm; Membrane 0 0 0 1 5 2005-06-21 O43295 SRGP3_HUMAN SRGAP3 SLIT-ROBO Rho GTPase-activating protein 3 1099 124.5 3 0 0 0 1 5 1998-07-15 O43315 AQP9_HUMAN AQP9 Aquaporin-9 295 31.4 15 Cell membrane; Basolateral cell membrane 6 0 0 1 5 1998-12-15 O43448 KCAB3_HUMAN KCNAB3 Voltage-gated potassium channel subunit beta-3 404 43.7 17 1.1.1.- Cytoplasm 0 0 0 1 5 2001-10-18 O43731 ERD23_HUMAN KDELR3 ER lumen protein-retaining receptor 3 214 25 22 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle 7 0 0 1 5 2000-05-30 O43768 ENSA_HUMAN ENSA Alpha-endosulfine 121 13.4 1 Cytoplasm 0 0 0 1 5 2003-02-28 O43772 MCAT_HUMAN SLC25A20 Mitochondrial carnitine/acylcarnitine carrier protein 301 32.9 3 Mitochondrion inner membrane 6 1 Carnitine-acylcarnitine translocase deficiency 0 1 5 1998-12-15 O43815 STRN_HUMAN STRN Striatin 780 86.1 2 Cytoplasm; Membrane; Cell projection 0 0 0 1 5 2001-01-11 O43847 NRDC_HUMAN NRDC Nardilysin 1151 131.7 1 3.4.24.61 Mitochondrion; Cell projection 0 0 0 1 5 1998-12-15 O43889 CREB3_HUMAN CREB3 Cyclic AMP-responsive element-binding protein 3 371 41.4 9 Endoplasmic reticulum membrane; Golgi apparatus 1 0 0 1 5 2004-11-09 O43916 CHST1_HUMAN CHST1 Carbohydrate sulfotransferase 1 411 46.7 11 Golgi apparatus membrane 1 0 0 1 5 2005-03-15 O60238 BNI3L_HUMAN BNIP3L BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like 219 23.9 8 Nucleus envelope; Endoplasmic reticulum; Mitochondrion outer membrane; Membrane 1 0 0 1 5 1999-07-15 O60258 FGF17_HUMAN FGF17 Fibroblast growth factor 17 216 24.9 8 Secreted 0 1 Hypogonadotropic hypogonadism 20 with or without anosmia 0 1 5 1999-07-15 O60294 TYW4_HUMAN LCMT2 tRNA wybutosine-synthesizing protein 4 686 75.6 15 2.1.1.290, 2.3.1.231 Cytoplasm 0 0 0 1 5 2004-05-24 O60356 NUPR1_HUMAN NUPR1 Nuclear protein 1 82 8.9 16 Nucleus; Cytoplasm 0 0 0 1 5 2000-05-30 O60383 GDF9_HUMAN GDF9 Growth/differentiation factor 9 454 51.4 5 Secreted 0 1 Premature ovarian failure 14 0 1 5 1999-07-15 O60427 FADS1_HUMAN FADS1 Acyl-CoA (8-3)-desaturase 444 52 11 1.14.19.44 Endoplasmic reticulum membrane; Mitochondrion 4 0 0 1 5 2007-10-02 O60477 BRNP1_HUMAN BRINP1 BMP/retinoic acid-inducible neural-specific protein 1 761 88.8 9 Cytoplasm 0 0 0 1 5 2006-01-24 O60487 MPZL2_HUMAN MPZL2 Myelin protein zero-like protein 2 215 24.5 11 Membrane 1 1 Deafness, autosomal recessive, 111 0 1 5 2002-03-27 O60512 B4GT3_HUMAN B4GALT3 Beta-1,4-galactosyltransferase 3 393 43.9 1 2.4.1.- Golgi apparatus 1 0 0 1 5 2001-02-21 O60749 SNX2_HUMAN SNX2 Sorting nexin-2 519 58.5 5 Early endosome membrane; Cell projection 0 0 0 1 5 2000-12-01 O60762 DPM1_HUMAN DPM1 Dolichol-phosphate mannosyltransferase subunit 1 260 29.6 20 2.4.1.83 Endoplasmic reticulum 0 1 Congenital disorder of glycosylation 1E 0 1 5 2002-01-23 O75052 CAPON_HUMAN NOS1AP Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein 506 56.2 1 Cell projection 0 1 Nephrotic syndrome 22 0 1 5 2005-01-04 O75054 IGSF3_HUMAN IGSF3 Immunoglobulin superfamily member 3 1194 135.2 1 Membrane 1 1 Lacrimal duct defect 0 1 5 2008-02-26 O75061 AUXI_HUMAN DNAJC6 Auxilin 913 100 1 3.1.3.- Cytoplasmic vesicle 0 2 Parkinson disease 19A, juvenile-onset; Parkinson disease 19B, early-onset 0 1 5 2006-06-27 O75095 MEGF6_HUMAN MEGF6 Multiple epidermal growth factor-like domains protein 6 1541 161.2 1 Secreted 0 0 0 1 5 2004-04-13 O75131 CPNE3_HUMAN CPNE3 Copine-3 537 60.1 8 Nucleus; Cytoplasm; Cell membrane; Cell junction 0 0 0 1 5 2000-12-01 O75161 NPHP4_HUMAN NPHP4 Nephrocystin-4 1426 157.6 1 Cytoplasm; Cell junction; Nucleus 0 2 Nephronophthisis 4; Senior-Loken syndrome 4 0 1 5 2003-01-27 O75170 PP6R2_HUMAN PPP6R2 Serine/threonine-protein phosphatase 6 regulatory subunit 2 966 104.9 22 Cytoplasm 0 0 0 1 5 2002-11-25 O75185 AT2C2_HUMAN ATP2C2 Calcium-transporting ATPase type 2C member 2 946 103.2 16 7.2.2.10 Golgi apparatus; Cell membrane; Basolateral cell membrane 10 0 0 1 5 2001-10-18 O75330 HMMR_HUMAN HMMR Hyaluronan mediated motility receptor 724 84.1 5 Cell surface; Cytoplasm 0 0 0 1 5 2000-05-30 O75354 ENTP6_HUMAN ENTPD6 Ectonucleoside triphosphate diphosphohydrolase 6 484 53.2 20 3.6.1.6 Golgi apparatus membrane; Secreted; Cell membrane 1 0 0 1 5 2001-08-29 O75355 ENTP3_HUMAN ENTPD3 Ectonucleoside triphosphate diphosphohydrolase 3 529 59.1 3 3.6.1.5 Cell membrane 2 0 0 1 5 2001-08-29 O75356 ENTP5_HUMAN ENTPD5 Nucleoside diphosphate phosphatase ENTPD5 428 47.5 14 3.6.1.6 Endoplasmic reticulum; Secreted 0 0 0 1 5 2001-08-29 O75360 PROP1_HUMAN PROP1 Homeobox protein prophet of Pit-1 226 25 5 Nucleus 0 1 Pituitary hormone deficiency, combined, 2 0 1 5 1998-12-15 O75410 TACC1_HUMAN TACC1 Transforming acidic coiled-coil-containing protein 1 805 87.8 8 Cytoplasm; Nucleus; Midbody 0 0 0 1 5 2001-04-27 O75425 MSPD3_HUMAN MOSPD3 Motile sperm domain-containing protein 3 235 25.5 7 Membrane 2 0 0 1 5 2005-06-07 O75461 E2F6_HUMAN E2F6 Transcription factor E2F6 281 31.8 2 Nucleus 0 0 0 1 5 2000-05-30 O75487 GPC4_HUMAN GPC4 Glypican-4 556 62.4 X Cell membrane 0 1 Keipert syndrome 0 1 5 2000-05-30 O75494 SRS10_HUMAN SRSF10 Serine/arginine-rich splicing factor 10 262 31.3 1 Nucleus speckle; Cytoplasm 0 0 0 1 5 2004-05-24 O75508 CLD11_HUMAN CLDN11 Claudin-11 207 22 3 Cell junction; Cell membrane 4 1 Leukodystrophy, hypomyelinating, 22 0 1 5 2000-05-30 O75553 DAB1_HUMAN DAB1 Disabled homolog 1 588 63.8 1 Cytoplasm 0 1 Spinocerebellar ataxia 37 0 1 5 2002-02-11 O75607 NPM3_HUMAN NPM3 Nucleoplasmin-3 178 19.3 10 Nucleus 0 0 0 1 5 2000-05-30 O75665 OFD1_HUMAN OFD1 Centriole and centriolar satellite protein OFD1 1012 116.7 X Cytoplasm; Nucleus 0 4 Orofaciodigital syndrome 1; Simpson-Golabi-Behmel syndrome 2; Joubert syndrome 10; Retinitis pigmentosa 23 0 1 5 2001-01-24 O75676 KS6A4_HUMAN RPS6KA4 Ribosomal protein S6 kinase alpha-4 772 85.6 11 2.7.11.1 Nucleus 0 0 0 1 5 2003-10-24 O75677 RFPL1_HUMAN RFPL1 Ret finger protein-like 1 317 35.5 22 Cytoplasm; Nucleus 0 0 0 1 5 2001-09-26 O75808 CAN15_HUMAN CAPN15 Calpain-15 1086 117.3 16 3.4.22.- 0 1 Oculogastrointestinal neurodevelopmental syndrome 0 1 5 2007-02-20 O75951 LYZL6_HUMAN LYZL6 Lysozyme-like protein 6 148 17 17 3.2.1.17 Secreted; Cell surface; Cell projection 0 0 0 1 5 2006-06-27 O76013 KRT36_HUMAN KRT36 Keratin, type I cuticular Ha6 467 52.2 17 0 0 0 1 5 2000-05-30 O76024 WFS1_HUMAN WFS1 Wolframin 890 100.3 4 Endoplasmic reticulum membrane; Cytoplasmic vesicle 11 4 Wolfram syndrome 1; Deafness, autosomal dominant, 6; Wolfram-like syndrome autosomal dominant; Cataract 41 0 1 5 1999-07-15 O76050 NEUL1_HUMAN NEURL1 E3 ubiquitin-protein ligase NEURL1 574 61.9 10 2.3.2.27 Cytoplasm; Cell membrane; Perikaryon; Cell projection; Postsynaptic density 0 0 0 1 5 2005-03-15 O76070 SYUG_HUMAN SNCG Gamma-synuclein 127 13.3 10 Cytoplasm 0 0 0 1 5 1999-07-15 O94812 BAIP3_HUMAN BAIAP3 BAI1-associated protein 3 1187 131.9 16 Cytoplasm; Recycling endosome membrane; Late endosome membrane; Golgi apparatus; Cell membrane 0 0 0 1 5 2004-08-31 O94832 MYO1D_HUMAN MYO1D Unconventional myosin-Id 1006 116.2 17 Cytoplasm; Perikaryon; Cell projection; Early endosome 0 0 0 1 5 2002-10-10 O94900 TOX_HUMAN TOX Thymocyte selection-associated high mobility group box protein TOX 526 57.5 8 Nucleus 0 0 0 1 5 2006-06-27 O94915 FRYL_HUMAN FRYL Protein furry homolog-like 3013 339.6 4 0 1 Pan-Chung-Bellen syndrome 0 1 5 2007-02-06 O94919 ENDD1_HUMAN ENDOD1 Endonuclease domain-containing 1 protein 500 55 11 3.1.30.- Secreted 0 0 0 1 5 2004-07-19 O94921 CDK14_HUMAN CDK14 Cyclin-dependent kinase 14 469 53.1 7 2.7.11.22 Cell membrane; Cytoplasm; Nucleus 0 0 0 1 5 2002-08-30 O94991 SLIK5_HUMAN SLITRK5 SLIT and NTRK-like protein 5 958 107.5 13 Membrane 1 0 0 1 5 2001-06-20 O95073 FSBP_HUMAN FSBP Fibrinogen silencer-binding protein 299 34.8 8 Nucleus 0 0 0 1 5 2004-07-19 O95222 OR6A2_HUMAN OR6A2 Olfactory receptor 6A2 327 36.2 11 Cell membrane 7 0 0 2 5 2000-12-01 O95249 GOSR1_HUMAN GOSR1 Golgi SNAP receptor complex member 1 250 28.6 17 Golgi apparatus membrane 1 0 0 1 5 2000-12-01 O95264 5HT3B_HUMAN HTR3B 5-hydroxytryptamine receptor 3B 441 50.3 11 Postsynaptic cell membrane; Cell membrane 4 0 0 1 5 2007-12-04 O95279 KCNK5_HUMAN KCNK5 Potassium channel subfamily K member 5 499 55.1 6 Membrane 4 0 0 1 5 2001-02-21 O95416 SOX14_HUMAN SOX14 Transcription factor SOX-14 240 26.5 3 Nucleus 0 0 0 1 5 2000-05-30 O95475 SIX6_HUMAN SIX6 Homeobox protein SIX6 246 27.7 14 Nucleus 0 1 Optic disk anomalies with retinal and/or macular dystrophy 0 1 5 2001-01-11 O95562 SFT2B_HUMAN SFT2D2 Vesicle transport protein SFT2B 160 17.8 1 Membrane 4 0 0 1 5 2006-05-30 O95672 ECEL1_HUMAN ECEL1 Endothelin-converting enzyme-like 1 775 87.8 2 3.4.24.- Membrane 1 1 Arthrogryposis, distal, 5D 0 1 5 2002-03-27 O95677 EYA4_HUMAN EYA4 Protein phosphatase EYA4 639 69.5 6 3.1.3.48 Cytoplasm; Nucleus 0 2 Deafness, autosomal dominant, 10; Cardiomyopathy, dilated, 1J 0 1 5 2000-05-30 O95772 STR3N_HUMAN STARD3NL STARD3 N-terminal-like protein 234 26.7 7 Late endosome membrane 4 0 0 1 5 2002-11-15 O95803 NDST3_HUMAN NDST3 Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 873 100.9 4 Golgi apparatus membrane 1 0 0 1 5 2006-03-07 O95832 CLD1_HUMAN CLDN1 Claudin-1 211 22.7 3 Cell junction; Cell membrane; Basolateral cell membrane 4 1 Ichthyosis-sclerosing cholangitis neonatal syndrome 0 1 5 2000-05-30 O95847 UCP4_HUMAN SLC25A27 Mitochondrial uncoupling protein 4 323 36.1 6 Mitochondrion inner membrane 6 0 0 1 5 1999-07-15 O95872 GPAN1_HUMAN GPANK1 G patch domain and ankyrin repeat-containing protein 1 356 39.3 6 0 0 0 1 5 2002-10-25 O95932 TGM3L_HUMAN TGM6 Protein-glutamine gamma-glutamyltransferase 6 706 79.3 20 2.3.2.13 Cytoplasm 0 1 Spinocerebellar ataxia 35 0 1 5 2002-05-10 O95936 EOMES_HUMAN EOMES Eomesodermin homolog 686 72.7 3 Nucleus 0 0 0 1 5 2000-05-30 O95965 ITGBL_HUMAN ITGBL1 Integrin beta-like protein 1 494 53.9 13 Secreted 0 0 0 1 5 2008-03-18 P01037 CYTN_HUMAN CST1 Cystatin-SN 141 16.4 20 Secreted 0 0 0 1 5 1986-07-21 P01242 SOM2_HUMAN GH2 Growth hormone variant 217 25 17 Secreted 0 0 0 1 5 1986-07-21 P01568 IFN21_HUMAN IFNA21 Interferon alpha-21 189 21.7 9 Secreted 0 0 0 1 5 1986-07-21 P01570 IFN14_HUMAN IFNA14 Interferon alpha-14 189 22.1 9 Secreted 0 0 0 1 5 1986-07-21 P04628 WNT1_HUMAN WNT1 Proto-oncogene Wnt-1 370 41 12 Secreted 0 2 Osteoporosis; Osteogenesis imperfecta 15 0 1 5 1987-08-13 P05014 IFNA4_HUMAN IFNA4 Interferon alpha-4 189 21.8 9 Secreted 0 0 0 1 5 1987-08-13 P05111 INHA_HUMAN INHA Inhibin alpha chain 366 39.7 2 Secreted 0 0 0 1 5 1987-08-13 P05783 K1C18_HUMAN KRT18 Keratin, type I cytoskeletal 18 430 48.1 12 Nucleus matrix; Cytoplasm; Nucleus 0 1 Cirrhosis 0 1 5 1988-11-01 P07202 PERT_HUMAN TPO Thyroid peroxidase 933 103 2 1.11.1.8 Membrane 1 1 Thyroid dyshormonogenesis 2A 0 1 5 1988-04-01 P08217 CEL2A_HUMAN CELA2A Chymotrypsin-like elastase family member 2A 269 28.9 1 3.4.21.71 Secreted 0 1 Abdominal obesity-metabolic syndrome 4 0 1 5 1988-08-01 P08218 CEL2B_HUMAN CELA2B Chymotrypsin-like elastase family member 2B 269 28.8 1 3.4.21.71 Secreted 0 0 0 1 5 1988-08-01 P08910 ABHD2_HUMAN ABHD2 Monoacylglycerol lipase ABHD2 425 48.3 15 3.1.1.23 Cell projection; Cell membrane 1 0 0 1 5 1988-11-01 P0CB47 UBFL1_HUMAN UBTFL1 Upstream-binding factor 1-like protein 1 393 46.1 11 Cytoplasm; Nucleus 0 0 0 1 5 2009-11-03 P0DML3 CSH2_HUMAN CSH2 Chorionic somatomammotropin hormone 2 217 25 17 Secreted 0 0 0 1 5 2014-07-09 P0DMN0 ST1A4_HUMAN SULT1A4 Sulfotransferase 1A4 295 34.2 16 2.8.2.1 Cytoplasm 0 0 0 1 5 2014-09-03 P0DMW2 PYDC4_HUMAN NLRP2B NLR family pyrin domain-containing protein 2B 45 5 X Cytoplasm; Nucleus 0 0 0 2 5 2015-05-27 P0DPH8 TBA3D_HUMAN TUBA3D Tubulin alpha-3D chain 450 50 13 3.6.5.- Cytoplasm 0 1 Keratoconus 9 0 1 5 2018-07-18 P10092 CALCB_HUMAN CALCB Calcitonin gene-related peptide 2 127 13.7 11 Secreted 0 0 0 1 5 1989-07-01 P10155 RO60_HUMAN RO60 RNA-binding protein RO60 538 60.7 1 Cytoplasm 0 0 0 1 5 1989-07-01 P10243 MYBA_HUMAN MYBL1 Myb-related protein A 752 85.9 8 Nucleus 0 0 0 1 5 1989-07-01 P10323 ACRO_HUMAN ACR Acrosin 421 45.8 22 3.4.21.10 0 1 Spermatogenic failure 87 0 1 5 1989-07-01 P10745 RET3_HUMAN RBP3 Retinol-binding protein 3 1247 135.4 10 Secreted 0 1 Retinitis pigmentosa 66 0 1 5 1989-07-01 P11049 CD37_HUMAN CD37 Leukocyte antigen CD37 281 31.7 19 Cell membrane 4 0 0 1 5 1989-07-01 P11161 EGR2_HUMAN EGR2 E3 SUMO-protein ligase EGR2 476 50.3 10 2.3.2.- Nucleus 0 3 Neuropathy, congenital hypomyelinating, 1, autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, type 1D; Dejerine-Sottas syndrome 0 1 5 1989-07-01 P12034 FGF5_HUMAN FGF5 Fibroblast growth factor 5 268 29.6 4 Secreted 0 1 Trichomegaly 0 1 5 1989-10-01 P12107 COBA1_HUMAN COL11A1 Collagen alpha-1(XI) chain 1806 181.1 1 Secreted 0 4 Stickler syndrome 2; Marshall syndrome; Fibrochondrogenesis 1; Deafness, autosomal dominant, 37 0 1 5 1989-10-01 P12235 ADT1_HUMAN SLC25A4 ADP/ATP translocase 1 298 33.1 4 Mitochondrion inner membrane; Membrane 6 3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2; Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type; Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type 0 1 5 1989-10-01 P12524 MYCL_HUMAN MYCL Protein L-Myc 364 40.3 1 Nucleus 0 0 0 1 5 1989-10-01 P12980 LYL1_HUMAN LYL1 Protein lyl-1 280 29.9 19 Nucleus 0 0 0 1 5 1990-01-01 P13385 TDGF1_HUMAN CRIPTO Protein Cripto 188 21.2 3 Cell membrane; Secreted 0 0 0 1 5 1990-01-01 P13640 MT1G_HUMAN MT1G Metallothionein-1G 62 6.1 16 0 0 0 1 5 1990-01-01 P13798 ACPH_HUMAN APEH Acylamino-acid-releasing enzyme 732 81.2 3 3.4.19.1 Cytoplasm 0 0 0 1 5 1990-01-01 P14621 ACYP2_HUMAN ACYP2 Acylphosphatase-2 99 11.1 2 3.6.1.7 0 0 0 1 5 1990-04-01 P15172 MYOD1_HUMAN MYOD1 Myoblast determination protein 1 320 34.5 11 Nucleus 0 1 Congenital myopathy 17 0 1 5 1990-04-01 P15173 MYOG_HUMAN MYOG Myogenin 224 25 1 Nucleus 0 0 0 1 5 1990-04-01 P15515 HIS1_HUMAN HTN1 Histatin-1 57 7 4 Secreted; Mitochondrion; Endoplasmic reticulum membrane 0 0 0 1 5 1990-04-01 P15918 RAG1_HUMAN RAG1 V(D)J recombination-activating protein 1 1043 119.1 11 Nucleus 0 4 Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive; Omenn syndrome; Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity 0 1 5 1990-04-01 P16050 LOX15_HUMAN ALOX15 Polyunsaturated fatty acid lipoxygenase ALOX15 662 74.8 17 Cytoplasm; Cell membrane; Lipid droplet 0 0 0 1 5 1990-04-01 P17021 ZNF17_HUMAN ZNF17 Zinc finger protein 17 662 77.2 19 Nucleus 0 0 0 1 5 1990-08-01 P17027 ZNF23_HUMAN ZNF23 Zinc finger protein 23 643 73.1 16 Nucleus 0 0 0 1 5 1990-08-01 P17483 HXB4_HUMAN HOXB4 Homeobox protein Hox-B4 251 27.6 17 Nucleus 0 0 0 1 5 1990-08-01 P17677 NEUM_HUMAN GAP43 Neuromodulin 238 24.8 3 Cell membrane; Cell projection; Synapse; Perikaryon; Cytoplasm 0 0 0 1 5 1990-08-01 P18846 ATF1_HUMAN ATF1 Cyclic AMP-dependent transcription factor ATF-1 271 29.2 12 Nucleus 0 1 Angiomatoid fibrous histiocytoma 0 1 5 1990-11-01 P19013 K2C4_HUMAN KRT4 Keratin, type II cytoskeletal 4 520 56.1 12 0 1 White sponge nevus 1 0 1 5 1990-11-01 P19022 CADH2_HUMAN CDH2 Cadherin-2 906 99.8 18 Cell membrane; Cell junction; Cell surface; Cell projection 1 3 Arrhythmogenic right ventricular dysplasia, familial, 14; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome; Attention deficit-hyperactivity disorder 8 0 1 5 1990-11-01 P19237 TNNI1_HUMAN TNNI1 Troponin I, slow skeletal muscle 187 21.7 1 0 0 0 1 5 1990-11-01 P20264 PO3F3_HUMAN POU3F3 POU domain, class 3, transcription factor 3 500 50.3 2 Nucleus 0 1 Snijders Blok-Fisher syndrome 0 1 5 1991-02-01 P20594 ANPRB_HUMAN NPR2 Atrial natriuretic peptide receptor 2 1047 117 9 4.6.1.2 Cell membrane 1 3 Acromesomelic dysplasia 1; Epiphyseal chondrodysplasia, Miura type; Short stature with non-specific skeletal abnormalities 1 0 1 5 1991-02-01 P20774 MIME_HUMAN OGN Mimecan 298 33.9 9 Secreted 0 0 0 1 5 1991-02-01 P21291 CSRP1_HUMAN CSRP1 Cysteine and glycine-rich protein 1 193 20.6 1 Nucleus 0 0 0 1 5 1991-05-01 P21781 FGF7_HUMAN FGF7 Fibroblast growth factor 7 194 22.5 15 Secreted 0 0 0 1 5 1991-05-01 P21854 CD72_HUMAN CD72 B-cell differentiation antigen CD72 359 40.2 9 Membrane 1 0 0 1 5 1991-05-01 P22460 KCNA5_HUMAN KCNA5 Potassium voltage-gated channel subfamily A member 5 613 67.2 12 Cell membrane 6 1 Atrial fibrillation, familial, 7 0 1 5 1991-08-01 P22794 EVI2A_HUMAN EVI2A Protein EVI2A 236 26.2 17 Membrane 1 0 0 1 5 1991-08-01 P23276 KELL_HUMAN KEL Kell blood group glycoprotein 732 82.8 7 3.4.24.- Cell membrane 1 0 0 1 5 1991-11-01 P23327 SRCH_HUMAN HRC Sarcoplasmic reticulum histidine-rich calcium-binding protein 699 80.2 19 Sarcoplasmic reticulum lumen 0 0 0 1 5 1991-11-01 P24387 CRHBP_HUMAN CRHBP Corticotropin-releasing hormone-binding protein 322 36.1 5 Secreted 0 0 0 1 5 1992-03-01 P25063 CD24_HUMAN CD24 Signal transducer CD24 80 8.1 6 Cell membrane 0 1 Multiple sclerosis 0 1 5 1992-05-01 P25100 ADA1D_HUMAN ADRA1D Alpha-1D adrenergic receptor 572 60.5 20 Cell membrane 7 0 0 1 5 1992-05-01 P26006 ITA3_HUMAN ITGA3 Integrin alpha-3 1051 116.6 17 Cell membrane; Cell projection 1 1 Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 0 1 5 1992-05-01 P26572 MGAT1_HUMAN MGAT1 Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase 445 50.9 5 2.4.1.101 Golgi apparatus membrane; Cytoplasm 1 0 0 1 5 1992-08-01 P26583 HMGB2_HUMAN HMGB2 High mobility group protein B2 209 24 4 Nucleus; Chromosome; Cytoplasm; Secreted 0 0 0 1 5 1992-08-01 P27469 G0S2_HUMAN G0S2 G0/G1 switch protein 2 103 11.3 1 Mitochondrion 0 0 0 1 5 1992-08-01 P27658 CO8A1_HUMAN COL8A1 Collagen alpha-1(VIII) chain 744 73.4 3 Secreted 0 0 0 1 5 1992-08-01 P28356 HXD9_HUMAN HOXD9 Homeobox protein Hox-D9 352 36.5 2 Nucleus 0 0 0 1 5 1992-12-01 P28476 GBRR2_HUMAN GABRR2 Gamma-aminobutyric acid receptor subunit rho-2 465 54.2 6 Postsynaptic cell membrane; Cell membrane 4 0 0 2 5 1992-12-01 P29122 PCSK6_HUMAN PCSK6 Proprotein convertase subtilisin/kexin type 6 969 106.4 15 3.4.21.- Secreted 0 0 0 1 5 1992-12-01 P30301 MIP_HUMAN MIP Lens fiber major intrinsic protein 263 28.1 12 Cell membrane; Cell junction 6 1 Cataract 15, multiple types 0 1 5 1993-04-01 P31512 FMO4_HUMAN FMO4 Flavin-containing monooxygenase 4 558 63.3 1 1.14.13.- Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 1993-07-01 P31944 CASPE_HUMAN CASP14 Caspase-14 242 27.7 19 3.4.22.- Cytoplasm; Nucleus 0 1 Ichthyosis, congenital, autosomal recessive 12 0 1 5 1993-07-01 P32856 STX2_HUMAN STX2 Syntaxin-2 288 33.3 12 Membrane 1 0 0 1 5 1993-10-01 P34810 CD68_HUMAN CD68 Macrosialin 354 37.4 17 Cell membrane 1 0 0 1 5 1994-02-01 P35212 CXA4_HUMAN GJA4 Gap junction alpha-4 protein 333 37.4 1 Cell membrane; Cell junction 4 0 0 1 5 1994-02-01 P35218 CAH5A_HUMAN CA5A Carbonic anhydrase 5A, mitochondrial 305 34.8 16 4.2.1.1 Mitochondrion 0 1 Hyperammonemia due to carbonic anhydrase VA deficiency 0 1 5 1994-02-01 P35443 TSP4_HUMAN THBS4 Thrombospondin-4 961 105.9 5 Endoplasmic reticulum; Sarcoplasmic reticulum; Secreted 0 0 0 1 5 1994-06-01 P35503 UD13_HUMAN UGT1A3 UDP-glucuronosyltransferase 1A3 534 60.3 2 2.4.1.17 Endoplasmic reticulum membrane 1 0 0 1 5 1994-06-01 P35638 DDIT3_HUMAN DDIT3 DNA damage-inducible transcript 3 protein 169 19.2 12 Cytoplasm; Nucleus 0 1 Myxoid liposarcoma 0 1 5 1994-06-01 P35663 CYLC1_HUMAN CYLC1 Cylicin-1 651 74.2 X Cytoplasm 0 1 Spermatogenic failure, X-linked, 8 0 1 5 1994-06-01 P35713 SOX18_HUMAN SOX18 Transcription factor SOX-18 384 40.9 20 Nucleus 0 2 Hypotrichosis-lymphedema-telangiectasia syndrome; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 0 1 5 1994-06-01 P37287 PIGA_HUMAN PIGA Phosphatidylinositol N-acetylglucosaminyltransferase subunit A 484 54.1 X 2.4.1.198 Rough endoplasmic reticulum membrane 1 3 Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2; Neurodevelopmental disorder with epilepsy and hemochromatosis 0 1 5 1994-10-01 P39880 CUX1_HUMAN CUX1 Homeobox protein cut-like 1 1505 164.2 7 Nucleus 0 1 Neurodevelopmental disorder with developmental delay and with or without motor or speech delay 0 1 5 1995-02-01 P40305 IFI27_HUMAN IFI27 Interferon alpha-inducible protein 27, mitochondrial 122 11.5 14 Mitochondrion membrane; Nucleus inner membrane; Endoplasmic reticulum membrane 3 0 0 1 5 1995-02-01 P41217 OX2G_HUMAN CD200 OX-2 membrane glycoprotein 278 31.3 3 Cell membrane 1 0 0 1 5 1995-02-01 P41221 WNT5A_HUMAN WNT5A Protein Wnt-5a 380 42.3 3 Secreted 0 1 Robinow syndrome, autosomal dominant 1 0 1 5 1995-02-01 P41247 PLPL4_HUMAN PNPLA4 Patatin-like phospholipase domain-containing protein 4 253 28 X 3.1.1.3 Mitochondrion 0 0 0 1 5 1995-02-01 P42263 GRIA3_HUMAN GRIA3 Glutamate receptor 3 894 101.2 X Cell membrane; Postsynaptic cell membrane; Postsynaptic density membrane 3 1 Intellectual developmental disorder, X-linked, syndromic, Wu type 0 1 5 1995-11-01 P43251 BTD_HUMAN BTD Biotinidase 523 58.9 3 3.5.1.12 Secreted 0 1 Biotinidase deficiency 0 1 5 1995-11-01 P46734 MP2K3_HUMAN MAP2K3 Dual specificity mitogen-activated protein kinase kinase 3 347 39.3 17 2.7.12.2 0 0 0 1 5 1995-11-01 P46821 MAP1B_HUMAN MAP1B Microtubule-associated protein 1B 2468 270.6 5 Cytoplasm; Synapse; Cell projection 0 2 Periventricular nodular heterotopia 9; Deafness, autosomal dominant, 83 0 1 5 1995-11-01 P48058 GRIA4_HUMAN GRIA4 Glutamate receptor 4 902 100.9 11 Cell membrane; Postsynaptic cell membrane; Cell projection 3 1 Neurodevelopmental disorder with or without seizures and gait abnormalities 0 1 5 1996-02-01 P48201 AT5G3_HUMAN ATP5MC3 ATP synthase F(0) complex subunit C3, mitochondrial 142 14.7 2 Mitochondrion membrane 2 1 Dystonia, early-onset, and/or spastic paraplegia 0 1 5 1996-02-01 P48230 T4S4_HUMAN TM4SF4 Transmembrane 4 L6 family member 4 202 21.4 3 Membrane 4 0 0 1 5 1996-02-01 P48544 KCNJ5_HUMAN KCNJ5 G protein-activated inward rectifier potassium channel 4 419 47.7 11 Membrane 2 2 Long QT syndrome 13; Hyperaldosteronism, familial, 3 0 1 5 1996-02-01 P48595 SPB10_HUMAN SERPINB10 Serpin B10 397 45.4 18 Nucleus; Cytoplasm 0 0 0 1 5 1996-02-01 P49221 TGM4_HUMAN TGM4 Protein-glutamine gamma-glutamyltransferase 4 684 77.1 3 2.3.2.13 0 0 0 1 5 1996-02-01 P49590 SYHM_HUMAN HARS2 Histidine--tRNA ligase, mitochondrial 506 56.9 5 6.1.1.21 Mitochondrion 0 1 Perrault syndrome 2 0 1 5 1996-02-01 P49716 CEBPD_HUMAN CEBPD CCAAT/enhancer-binding protein delta 269 28.5 8 Nucleus 0 0 0 1 5 1996-10-01 P49754 VPS41_HUMAN VPS41 Vacuolar protein sorting-associated protein 41 homolog 854 98.6 7 Endosome membrane; Late endosome membrane; Early endosome membrane; Lysosome membrane; Golgi apparatus; Cytoplasmic vesicle; Cytoplasm 0 1 Spinocerebellar ataxia, autosomal recessive, 29 0 1 5 1996-10-01 P49910 ZN165_HUMAN ZNF165 Zinc finger protein 165 485 55.8 6 Nucleus 0 0 0 1 5 1996-10-01 P50221 MEOX1_HUMAN MEOX1 Homeobox protein MOX-1 254 28 17 Nucleus; Cytoplasm 0 1 Klippel-Feil syndrome 2, autosomal recessive 0 1 5 1996-10-01 P50502 F10A1_HUMAN ST13 Hsc70-interacting protein 369 41.3 22 Cytoplasm 0 0 0 1 5 1996-10-01 P51589 CP2J2_HUMAN CYP2J2 Cytochrome P450 2J2 502 57.6 1 1.14.14.- Endoplasmic reticulum membrane; Microsome membrane 0 0 0 1 5 1996-10-01 P51674 GPM6A_HUMAN GPM6A Neuronal membrane glycoprotein M6-a 278 31.2 4 Cell membrane; Cell projection 4 0 0 1 5 1996-10-01 P51793 CLCN4_HUMAN CLCN4 H(+)/Cl(-) exchange transporter 4 760 84.9 X Early endosome membrane; Late endosome membrane; Endoplasmic reticulum membrane; Lysosome membrane; Recycling endosome membrane 10 1 Raynaud-Claes syndrome 0 1 5 1996-10-01 P51801 CLCKB_HUMAN CLCNKB Chloride channel protein ClC-Kb 687 75.4 1 Basolateral cell membrane 10 2 Bartter syndrome 3; Bartter syndrome 4B, neonatal, with sensorineural deafness 0 1 5 1996-10-01 P51810 GP143_HUMAN GPR143 G protein-coupled receptor 143 404 43.9 X Melanosome membrane; Lysosome membrane; Apical cell membrane 7 2 Albinism ocular 1; Nystagmus 6, congenital, X-linked 0 1 5 1996-10-01 P51826 AFF3_HUMAN AFF3 AF4/FMR2 family member 3 1226 133.5 2 Nucleus 0 1 KINSSHIP syndrome 0 1 5 1996-10-01 P51888 PRELP_HUMAN PRELP Prolargin 382 43.8 1 Secreted 0 0 0 1 5 1996-10-01 P51993 FUT6_HUMAN FUT6 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6 359 41.9 19 2.4.1.152 Golgi apparatus; Secreted 1 0 0 1 5 1996-10-01 P52198 RND2_HUMAN RND2 Rho-related GTP-binding protein RhoN 227 25.4 17 3.6.5.2 Cytoplasmic vesicle 0 0 0 1 5 1996-10-01 P52429 DGKE_HUMAN DGKE Diacylglycerol kinase epsilon 567 63.9 17 2.7.1.107 Membrane; Cytoplasm 1 2 Nephrotic syndrome 7; Hemolytic uremic syndrome, atypical, 7 0 1 5 1996-10-01 P52738 ZN140_HUMAN ZNF140 Zinc finger protein 140 457 53 12 Nucleus 0 0 0 1 5 1996-10-01 P52797 EFNA3_HUMAN EFNA3 Ephrin-A3 238 26.4 1 Cell membrane 0 0 0 1 5 1996-10-01 P52954 LBX1_HUMAN LBX1 Transcription factor LBX1 281 30.2 10 Nucleus 0 1 Central hypoventilation syndrome, congenital, 3 0 1 5 1996-10-01 P53007 TXTP_HUMAN SLC25A1 Tricarboxylate transport protein, mitochondrial 311 34 22 Mitochondrion inner membrane 6 2 Combined D-2- and L-2-hydroxyglutaric aciduria; Myasthenic syndrome, congenital, 23, presynaptic 0 1 5 1996-10-01 P53367 ARFP1_HUMAN ARFIP1 Arfaptin-1 373 41.7 4 Golgi apparatus 0 0 0 1 5 1996-10-01 P53384 NUBP1_HUMAN NUBP1 Cytosolic Fe-S cluster assembly factor NUBP1 320 34.5 16 Cytoplasm; Nucleus; Cell projection 0 0 0 1 5 1996-10-01 P54108 CRIS3_HUMAN CRISP3 Cysteine-rich secretory protein 3 245 27.6 6 Secreted 0 0 0 1 5 1996-10-01 P54750 PDE1A_HUMAN PDE1A Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A 535 61.3 2 3.1.4.17 0 0 0 1 5 1996-10-01 P54851 EMP2_HUMAN EMP2 Epithelial membrane protein 2 167 19.2 16 Golgi apparatus membrane; Cell membrane; Apical cell membrane; Membrane raft; Cytoplasm; Nucleus 4 1 Nephrotic syndrome 10 0 1 5 1996-10-01 P55001 MFAP2_HUMAN MFAP2 Microfibrillar-associated protein 2 183 20.8 1 Secreted 0 0 0 1 5 1996-10-01 P55058 PLTP_HUMAN PLTP Phospholipid transfer protein 493 54.7 20 Secreted; Nucleus 0 0 0 1 5 1996-10-01 P55073 IOD3_HUMAN DIO3 Thyroxine 5-deiodinase 304 33.9 14 1.21.99.3 Cell membrane; Endosome membrane 1 0 0 1 5 1996-10-01 P55268 LAMB2_HUMAN LAMB2 Laminin subunit beta-2 1798 196 3 Secreted 0 2 Pierson syndrome; Nephrotic syndrome 5, with or without ocular abnormalities 0 1 5 1996-10-01 P55286 CADH8_HUMAN CDH8 Cadherin-8 799 88.3 16 Cell membrane 1 0 0 1 5 1996-10-01 P55289 CAD12_HUMAN CDH12 Cadherin-12 794 88.3 5 Cell membrane 1 0 0 1 5 1996-10-01 P55771 PAX9_HUMAN PAX9 Paired box protein Pax-9 341 36.3 14 Nucleus 0 1 Tooth agenesis, selective, 3 0 1 5 1997-11-01 P56177 DLX1_HUMAN DLX1 Homeobox protein DLX-1 255 27.3 2 Nucleus 0 0 0 1 5 1997-11-01 P56180 TPTE_HUMAN TPTE Putative tyrosine-protein phosphatase TPTE 551 64.3 21 3.1.3.48 Membrane 3 0 0 1 5 1999-07-15 P56539 CAV3_HUMAN CAV3 Caveolin-3 151 17.3 3 Golgi apparatus membrane; Cell membrane; Membrane 0 6 HyperCKmia; Rippling muscle disease 2; Cardiomyopathy, familial hypertrophic; Long QT syndrome 9; Sudden infant death syndrome; Myopathy, distal, Tateyama type 0 1 5 1998-07-15 P56693 SOX10_HUMAN SOX10 Transcription factor SOX-10 466 49.9 22 Cytoplasm; Nucleus; Mitochondrion outer membrane 0 3 Waardenburg syndrome 2E; Waardenburg syndrome 4C; Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease 0 1 5 1999-07-15 P56715 RP1_HUMAN RP1 Oxygen-regulated protein 1 2156 240.7 8 Cytoplasm; Cell projection 0 1 Retinitis pigmentosa 1 0 1 5 2000-05-30 P56730 NETR_HUMAN PRSS12 Neurotrypsin 875 97.1 4 3.4.21.- Secreted 0 1 Intellectual developmental disorder, autosomal recessive 1 0 1 5 2000-05-30 P56746 CLD15_HUMAN CLDN15 Claudin-15 228 24.4 7 Cell junction; Cell membrane 4 0 0 1 5 2000-05-30 P56747 CLD6_HUMAN CLDN6 Claudin-6 220 23.3 16 Cell junction; Cell membrane 4 0 0 1 5 2000-05-30 P57059 SIK1_HUMAN SIK1 Serine/threonine-protein kinase SIK1 783 84.9 21 2.7.11.1 Cytoplasm; Nucleus 0 1 Developmental and epileptic encephalopathy 30 0 1 5 2000-12-01 P57071 PRD15_HUMAN PRDM15 PR domain zinc finger protein 15 1141 129.6 21 2.1.1.- Nucleus 0 0 0 1 5 2000-12-01 P57082 TBX4_HUMAN TBX4 T-box transcription factor TBX4 545 60.2 17 Nucleus 0 2 Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome 0 1 5 2000-12-01 P57682 KLF3_HUMAN KLF3 Krueppel-like factor 3 345 38.8 4 Nucleus 0 0 0 1 5 2000-12-01 P57727 TMPS3_HUMAN TMPRSS3 Transmembrane protease serine 3 454 49.4 21 3.4.21.- Endoplasmic reticulum membrane 1 1 Deafness, autosomal recessive, 8 0 1 5 2001-01-11 P58005 SESN3_HUMAN SESN3 Sestrin-3 492 57.3 11 1.11.1.- Cytoplasm 0 0 0 1 5 2001-04-27 P58499 FAM3B_HUMAN FAM3B Protein FAM3B 235 26 21 Secreted 0 0 0 1 5 2001-12-19 P59103 DAOA_HUMAN DAOA D-amino acid oxidase regulator 153 18.1 13 Cytoplasm; Golgi apparatus; Mitochondrion 0 1 Schizophrenia 0 1 5 2002-11-25 P59780 AP3S2_HUMAN AP3S2 AP-3 complex subunit sigma-2 193 22 15 Golgi apparatus; Cytoplasmic vesicle membrane 0 0 0 1 5 2003-07-19 P60014 KR10A_HUMAN KRTAP10-10 Keratin-associated protein 10-10 251 25.6 21 0 0 0 1 5 2003-11-14 P60410 KR108_HUMAN KRTAP10-8 Keratin-associated protein 10-8 259 26.3 21 0 0 0 1 5 2004-02-16 P60411 KR109_HUMAN KRTAP10-9 Keratin-associated protein 10-9 292 30 21 0 0 0 1 5 2004-02-16 P60981 DEST_HUMAN DSTN Destrin 165 18.5 20 0 0 0 1 5 2004-04-26 P62079 TSN5_HUMAN TSPAN5 Tetraspanin-5 268 30.3 4 Cell membrane 4 0 0 1 5 2004-06-21 P63218 GBG5_HUMAN GNG5 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5 68 7.3 1 Cell membrane 0 0 0 1 5 2004-09-27 P69849 NOMO3_HUMAN NOMO3 BOS complex subunit NOMO3 1222 134.1 16 Endoplasmic reticulum membrane 1 0 0 1 5 2005-06-07 P78312 F193A_HUMAN FAM193A Protein FAM193A 1515 166.4 4 Nucleus; Cytoplasm 0 0 0 1 5 2005-07-19 P78426 NKX61_HUMAN NKX6-1 Homeobox protein Nkx-6.1 367 37.8 4 Nucleus 0 0 0 1 5 1999-07-15 P78524 DEN2B_HUMAN DENND2B DENN domain-containing protein 2B 1137 126.5 11 Cytoplasm; Cell membrane; Recycling endosome 0 0 0 1 5 2006-07-25 P80365 DHI2_HUMAN HSD11B2 11-beta-hydroxysteroid dehydrogenase type 2 405 44.1 16 1.1.1.- Microsome; Endoplasmic reticulum 0 1 Apparent mineralocorticoid excess 0 1 5 1995-02-01 P83436 COG7_HUMAN COG7 Conserved oligomeric Golgi complex subunit 7 770 86.3 16 Golgi apparatus membrane 0 1 Congenital disorder of glycosylation 2E 0 1 5 2002-08-30 P85299 PRR5_HUMAN PRR5 Proline-rich protein 5 388 42.8 22 0 0 0 1 5 2007-10-23 P98174 FGD1_HUMAN FGD1 FYVE, RhoGEF and PH domain-containing protein 1 961 106.6 X Cytoplasm; Cell projection 0 1 Aarskog-Scott syndrome 0 1 5 1996-10-01 P98182 ZN200_HUMAN ZNF200 Zinc finger protein 200 395 45.5 16 Nucleus 0 0 0 1 5 2000-05-30 P98187 CP4F8_HUMAN CYP4F8 Cytochrome P450 4F8 520 60 19 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 1 0 0 1 5 2000-12-01 P98196 AT11A_HUMAN ATP11A Phospholipid-transporting ATPase IH 1134 129.8 13 7.6.2.1 Cell membrane; Early endosome; Recycling endosome; Endoplasmic reticulum membrane 10 3 Deafness, autosomal dominant, 84; Leukodystrophy, hypomyelinating, 24; Auditory neuropathy, autosomal dominant 2 0 1 5 2000-05-30 Q00887 PSG9_HUMAN PSG9 Pregnancy-specific beta-1-glycoprotein 9 426 48.3 19 Secreted 0 0 0 1 5 1996-10-01 Q00978 IRF9_HUMAN IRF9 Interferon regulatory factor 9 393 43.7 14 Cytoplasm; Nucleus 0 1 Immunodeficiency 65 0 1 5 1993-04-01 Q01449 MLRA_HUMAN MYL7 Myosin regulatory light chain 2, atrial isoform 175 19.4 7 0 0 0 1 5 2003-11-28 Q01628 IFM3_HUMAN IFITM3 Interferon-induced transmembrane protein 3 133 14.6 11 Cell membrane; Late endosome membrane; Early endosome membrane; Lysosome membrane; Cytoplasm 1 0 0 1 5 1993-07-01 Q01664 TFAP4_HUMAN TFAP4 Transcription factor AP-4 338 38.7 16 Nucleus 0 0 0 1 5 1993-10-01 Q01850 CDR2_HUMAN CDR2 Cerebellar degeneration-related protein 2 454 51.9 16 0 0 0 1 5 1993-07-01 Q02161 RHD_HUMAN RHD Blood group Rh(D) polypeptide 417 45.2 1 Cell membrane 11 1 Hemolytic disease of fetus and newborn, RH-induced 0 1 5 1997-11-01 Q02556 IRF8_HUMAN IRF8 Interferon regulatory factor 8 426 48.4 16 Nucleus; Cytoplasm 0 2 Immunodeficiency 32A; Immunodeficiency 32B 0 1 5 1993-07-01 Q02577 HEN2_HUMAN NHLH2 Helix-loop-helix protein 2 135 15 1 Nucleus 0 1 Hypogonadotropic hypogonadism 27 without anosmia 0 1 5 1993-07-01 Q02809 PLOD1_HUMAN PLOD1 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 727 83.6 1 1.14.11.4 Rough endoplasmic reticulum membrane 0 1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1 0 1 5 1993-07-01 Q02930 CREB5_HUMAN CREB5 Cyclic AMP-responsive element-binding protein 5 508 56.9 7 Nucleus 0 0 0 1 5 2004-04-13 Q02952 AKA12_HUMAN AKAP12 A-kinase anchor protein 12 1782 191.5 6 Cytoplasm; Membrane 0 0 0 1 5 1994-02-01 Q02985 FHR3_HUMAN CFHR3 Complement factor H-related protein 3 330 37.3 1 Secreted 0 1 Hemolytic uremic syndrome, atypical, 1 0 1 5 1994-06-01 Q03052 PO3F1_HUMAN POU3F1 POU domain, class 3, transcription factor 1 451 45.5 1 Nucleus 0 0 0 1 5 1993-07-01 Q04695 K1C17_HUMAN KRT17 Keratin, type I cytoskeletal 17 432 48.1 17 Cytoplasm 0 2 Pachyonychia congenita 2; Steatocystoma multiplex 0 1 5 1994-06-01 Q05084 ICA69_HUMAN ICA1 Islet cell autoantigen 1 483 54.6 7 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle 0 0 0 1 5 1995-02-01 Q05932 FOLC_HUMAN FPGS Folylpolyglutamate synthase, mitochondrial 587 64.6 9 6.3.2.17 Mitochondrion inner membrane; Mitochondrion matrix 0 0 0 1 5 1994-06-01 Q05952 STP2_HUMAN TNP2 Nuclear transition protein 2 138 15.6 16 Nucleus; Chromosome 0 0 0 1 5 1994-02-01 Q05D60 DEUP1_HUMAN DEUP1 Deuterosome assembly protein 1 604 71 11 Cytoplasm 0 0 0 1 5 2007-08-21 Q06055 AT5G2_HUMAN ATP5MC2 ATP synthase F(0) complex subunit C2, mitochondrial 141 14.6 12 Mitochondrion membrane 2 0 0 1 5 1994-02-01 Q06547 GABP1_HUMAN GABPB1 GA-binding protein subunit beta-1 395 42.5 15 Nucleus 0 0 0 1 5 1995-11-01 Q07325 CXCL9_HUMAN CXCL9 C-X-C motif chemokine 9 125 14 4 Secreted 0 0 0 1 5 1994-10-01 Q08AH1 ACSM1_HUMAN ACSM1 Acyl-coenzyme A synthetase ACSM1, mitochondrial 577 65.3 16 6.2.1.2 Mitochondrion matrix; Mitochondrion 0 0 0 1 5 2007-10-02 Q08J23 NSUN2_HUMAN NSUN2 RNA cytosine C(5)-methyltransferase NSUN2 767 86.5 5 2.1.1.- Nucleus; Cytoplasm; Mitochondrion; Secreted 0 1 Intellectual developmental disorder, autosomal recessive 5 0 1 5 2007-05-29 Q0VAQ4 SMAGP_HUMAN SMAGP Small cell adhesion glycoprotein 97 10.7 12 Cell membrane; Cytoplasmic vesicle membrane 1 0 0 1 5 2008-04-08 Q0VDD8 DYH14_HUMAN DNAH14 Dynein axonemal heavy chain 14 3507 399.9 1 Cytoplasm 0 0 0 1 5 2007-05-15 Q10472 GALT1_HUMAN GALNT1 Polypeptide N-acetylgalactosaminyltransferase 1 559 64.2 18 2.4.1.41 Golgi apparatus 1 0 0 1 5 1996-10-01 Q11128 FUT5_HUMAN FUT5 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5 374 43 19 2.4.1.152 Golgi apparatus 1 0 0 1 5 1996-10-01 Q11201 SIA4A_HUMAN ST3GAL1 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 340 39.1 8 2.4.3.4 Golgi apparatus; Secreted 1 0 0 1 5 1996-10-01 Q11203 SIAT6_HUMAN ST3GAL3 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase 375 42.2 1 2.4.3.6 Golgi apparatus; Secreted 1 2 Intellectual developmental disorder, autosomal recessive 12; Developmental and epileptic encephalopathy 15 0 1 5 1996-10-01 Q12851 M4K2_HUMAN MAP4K2 Mitogen-activated protein kinase kinase kinase kinase 2 820 91.6 11 2.7.11.1 Cytoplasm; Basolateral cell membrane; Golgi apparatus membrane 0 0 0 1 5 2003-02-28 Q12891 HYAL2_HUMAN HYAL2 Hyaluronidase-2 473 53.9 3 3.2.1.35 Cell membrane 0 1 Muggenthaler-Chowdhury-Chioza syndrome 0 1 5 2002-11-15 Q12894 IFRD2_HUMAN IFRD2 Interferon-related developmental regulator 2 442 48 3 0 0 0 1 5 2000-05-30 Q12905 ILF2_HUMAN ILF2 Interleukin enhancer-binding factor 2 390 43.1 1 Nucleus; Cytoplasm 0 0 0 1 5 2005-04-12 Q12926 ELAV2_HUMAN ELAVL2 ELAV-like protein 2 359 39.5 9 0 0 0 1 5 2001-02-21 Q12934 BFSP1_HUMAN BFSP1 Filensin 665 74.5 20 Cell membrane; Cytoplasm 0 1 Cataract 33, multiple types 0 1 5 1997-11-01 Q12979 ABR_HUMAN ABR Active breakpoint cluster region-related protein 859 97.6 17 Cell projection; Synapse 0 0 0 1 5 1999-07-15 Q13023 AKAP6_HUMAN AKAP6 A-kinase anchor protein 6 2319 256.7 14 Sarcoplasmic reticulum; Nucleus membrane 0 0 0 1 5 2001-04-27 Q13201 MMRN1_HUMAN MMRN1 Multimerin-1 1228 138.1 4 Secreted 0 0 0 1 5 1998-07-15 Q13287 NMI_HUMAN NMI N-myc-interactor 307 35.1 2 Cytoplasm; Nucleus; Secreted 0 0 0 1 5 2001-08-14 Q13433 S39A6_HUMAN SLC39A6 Zinc transporter ZIP6 755 85 18 Cell membrane; Cell projection; Membrane raft; Apical cell membrane 6 0 0 1 5 2005-07-05 Q13443 ADAM9_HUMAN ADAM9 Disintegrin and metalloproteinase domain-containing protein 9 819 90.6 8 3.4.24.- Cell membrane 1 1 Cone-rod dystrophy 9 0 1 5 2002-10-19 Q13492 PICAL_HUMAN PICALM Phosphatidylinositol-binding clathrin assembly protein 652 70.8 11 Cell membrane; Membrane; Golgi apparatus; Cytoplasmic vesicle; Nucleus 0 0 0 1 5 2002-11-15 Q13496 MTM1_HUMAN MTM1 Myotubularin 603 69.9 X 3.1.3.95 Cytoplasm; Cell membrane; Cell projection; Late endosome 0 1 Myopathy, centronuclear, X-linked 0 1 5 1997-11-01 Q13508 NAR3_HUMAN ART3 Ecto-ADP-ribosyltransferase 3 389 43.9 4 2.4.2.31 Cell membrane 0 0 0 1 5 1997-11-01 Q13515 BFSP2_HUMAN BFSP2 Phakinin 415 45.9 3 Cell membrane; Cytoplasm 0 1 Cataract 12, multiple types 0 1 5 2001-11-16 Q13585 MTR1L_HUMAN GPR50 Melatonin-related receptor 617 67.4 X Cell membrane; Postsynaptic density 7 0 0 1 5 1997-11-01 Q13683 ITA7_HUMAN ITGA7 Integrin alpha-7 1181 128.9 12 Membrane 1 1 Muscular dystrophy congenital due to integrin alpha-7 deficiency 0 1 5 2000-12-01 Q13795 ARFRP_HUMAN ARFRP1 ADP-ribosylation factor-related protein 1 201 22.6 20 Golgi apparatus 0 0 0 1 5 1997-11-01 Q13829 BACD2_HUMAN TNFAIP1 BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 316 36.2 17 Cytoplasm; Nucleus; Endosome 0 0 0 1 5 1997-11-01 Q13972 RGRF1_HUMAN RASGRF1 Ras-specific guanine nucleotide-releasing factor 1 1273 145.2 15 0 0 0 1 5 2001-02-21 Q14032 BAAT_HUMAN BAAT Bile acid-CoA:amino acid N-acyltransferase 418 46.3 9 2.3.1.65 Cytoplasm; Peroxisome 0 1 Hypercholanemia, familial 3 0 1 5 2005-11-08 Q14112 NID2_HUMAN NID2 Nidogen-2 1375 151.3 14 Secreted 0 0 0 1 5 1998-12-15 Q14119 VEZF1_HUMAN VEZF1 Vascular endothelial zinc finger 1 521 56.9 17 Nucleus 0 1 Cardiomyopathy, dilated, 1OO 0 1 5 1999-07-15 Q14123 PDE1C_HUMAN PDE1C Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1C 709 80.8 7 3.1.4.17 Lysosome 0 1 Deafness, autosomal dominant, 74 0 1 5 1997-11-01 Q14190 SIM2_HUMAN SIM2 Single-minded homolog 2 667 73.2 21 Nucleus 0 0 0 1 5 1997-11-01 Q14202 ZMYM3_HUMAN ZMYM3 Zinc finger MYM-type protein 3 1370 152.4 X Nucleus 0 1 Intellectual developmental disorder, X-linked 112 0 1 5 1997-11-01 Q14406 CSHL_HUMAN CSHL1 Chorionic somatomammotropin hormone-like 1 222 25.4 17 Secreted 0 0 0 1 5 2005-07-19 Q14442 PIGH_HUMAN PIGH Phosphatidylinositol N-acetylglucosaminyltransferase subunit H 188 21.1 14 Endoplasmic reticulum membrane 2 1 Glycosylphosphatidylinositol biosynthesis defect 17 0 1 5 2002-12-13 Q14500 KCJ12_HUMAN KCNJ12 ATP-sensitive inward rectifier potassium channel 12 433 49 17 Membrane; Cell membrane 2 0 0 1 5 1997-11-01 Q14526 HIC1_HUMAN HIC1 Hypermethylated in cancer 1 protein 733 76.5 17 Nucleus 0 0 0 1 5 2002-05-02 Q14532 K1H2_HUMAN KRT32 Keratin, type I cuticular Ha2 448 50.3 17 0 0 0 1 5 1998-07-15 Q14574 DSC3_HUMAN DSC3 Desmocollin-3 896 100 18 Cell membrane; Cell junction; Cytoplasm 1 1 Hypotrichosis and recurrent skin vesicles 0 1 5 1997-11-01 Q14696 MESD_HUMAN MESD LRP chaperone MESD 234 26.1 15 Endoplasmic reticulum 0 1 Osteogenesis imperfecta 20 0 1 5 1998-07-15 Q14746 COG2_HUMAN COG2 Conserved oligomeric Golgi complex subunit 2 738 83.2 1 Golgi apparatus membrane 0 1 Congenital disorder of glycosylation 2Q 0 1 5 1997-11-01 Q14789 GOGB1_HUMAN GOLGB1 Golgin subfamily B member 1 3259 376 3 Golgi apparatus membrane 1 0 0 1 5 2003-02-01 Q14916 NPT1_HUMAN SLC17A1 Sodium-dependent phosphate transport protein 1 467 51.1 6 Apical cell membrane 10 0 0 1 5 1997-11-01 Q14990 ODFP1_HUMAN ODF1 Outer dense fiber protein 1 250 28.4 8 Cell projection; Cytoplasm 0 0 0 1 5 1997-11-01 Q14CB8 RHG19_HUMAN ARHGAP19 Rho GTPase-activating protein 19 494 55.8 10 Nucleus; Cytoplasm 0 1 Charcot-Marie-Tooth disease, axonal, type 2KK 0 1 5 2007-03-20 Q14CN4 K2C72_HUMAN KRT72 Keratin, type II cytoskeletal 72 511 55.9 12 0 0 0 1 5 2008-01-15 Q14CZ7 FAKD3_HUMAN FASTKD3 FAST kinase domain-containing protein 3, mitochondrial 662 75.7 5 Mitochondrion 0 0 0 1 5 2007-04-17 Q15102 PA1B3_HUMAN PAFAH1B3 Platelet-activating factor acetylhydrolase IB subunit alpha1 231 25.7 19 3.1.1.47 Cytoplasm 0 0 0 1 5 1998-07-15 Q15111 PLCL1_HUMAN PLCL1 Inactive phospholipase C-like protein 1 1095 122.7 2 Cytoplasm 0 0 0 1 5 2008-02-26 Q15165 PON2_HUMAN PON2 Serum paraoxonase/arylesterase 2 354 39.4 7 3.1.1.2, 3.1.1.81 Membrane 0 0 0 1 5 1997-11-01 Q15166 PON3_HUMAN PON3 Serum paraoxonase/lactonase 3 354 39.6 7 3.1.1.2, 3.1.1.81, 3.1.8.1 Secreted 0 0 0 1 5 1997-11-01 Q15323 K1H1_HUMAN KRT31 Keratin, type I cuticular Ha1 416 47.2 17 0 0 0 1 5 1998-07-15 Q15406 NR6A1_HUMAN NR6A1 Nuclear receptor subfamily 6 group A member 1 480 54.4 9 Nucleus 0 1 Oculovertebral syndrome 0 1 5 2000-12-01 Q15417 CNN3_HUMAN CNN3 Calponin-3 329 36.4 1 0 0 0 1 5 2000-05-30 Q15464 SHB_HUMAN SHB SH2 domain-containing adapter protein B 509 55 9 Cytoplasm; Cell membrane 0 0 0 1 5 2006-07-25 Q15714 T22D1_HUMAN TSC22D1 TSC22 domain family protein 1 1073 109.7 13 Cytoplasm; Nucleus; Cell membrane 0 0 0 1 5 1997-11-01 Q15784 NDF2_HUMAN NEUROD2 Neurogenic differentiation factor 2 382 41.4 17 Nucleus 0 1 Developmental and epileptic encephalopathy 72 0 1 5 1997-11-01 Q15842 KCNJ8_HUMAN KCNJ8 ATP-sensitive inward rectifier potassium channel 8 424 48 12 Membrane 2 2 Sudden infant death syndrome; Hypertrichotic osteochondrodysplasia 0 1 5 1997-11-01 Q15973 ZN124_HUMAN ZNF124 Zinc finger protein 124 351 40.2 1 Nucleus 0 0 0 1 5 1997-11-01 Q16206 ENOX2_HUMAN ENOX2 Ecto-NOX disulfide-thiol exchanger 2 610 70.1 X Cell membrane; Secreted 0 0 0 1 5 1999-07-15 Q16518 RPE65_HUMAN RPE65 Retinoid isomerohydrolase 533 60.9 1 3.1.1.64 Cytoplasm; Cell membrane; Microsome membrane 0 3 Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement 0 1 5 2003-10-10 Q16534 HLF_HUMAN HLF Transcription factor HLF 295 33.2 17 Nucleus 0 0 0 1 5 2000-05-30 Q16549 PCSK7_HUMAN PCSK7 Proprotein convertase subtilisin/kexin type 7 785 86.2 11 3.4.21.- Golgi apparatus 1 0 0 1 5 2001-01-11 Q16585 SGCB_HUMAN SGCB Beta-sarcoglycan 318 34.8 4 Cell membrane; Cytoplasm 1 1 Muscular dystrophy, limb-girdle, autosomal recessive 4 0 1 5 2001-04-27 Q16586 SGCA_HUMAN SGCA Alpha-sarcoglycan 387 42.9 17 Cell membrane; Cytoplasm 1 1 Muscular dystrophy, limb-girdle, autosomal recessive 3 0 1 5 2001-04-27 Q16612 NREP_HUMAN NREP Neuronal regeneration-related protein 68 7.9 5 Cytoplasm 0 0 0 1 5 1997-11-01 Q16635 TAZ_HUMAN TAFAZZIN Tafazzin 262 30.2 X 2.3.1.- Mitochondrion outer membrane; Mitochondrion inner membrane 0 1 Barth syndrome 0 1 5 1997-11-01 Q16670 ZSC26_HUMAN ZSCAN26 Zinc finger and SCAN domain-containing protein 26 478 55.3 6 Nucleus 0 0 0 1 5 2007-10-23 Q16676 FOXD1_HUMAN FOXD1 Forkhead box protein D1 465 46.1 5 Nucleus 0 0 0 1 5 1997-11-01 Q16720 AT2B3_HUMAN ATP2B3 Plasma membrane calcium-transporting ATPase 3 1220 134.2 X 7.2.2.10 Cell membrane; Presynaptic cell membrane 10 1 Spinocerebellar ataxia, X-linked 1 0 1 5 1997-11-01 Q16842 SIA4B_HUMAN ST3GAL2 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 350 40.2 16 2.4.3.4 Golgi apparatus; Secreted 1 0 0 1 5 2002-07-11 Q16880 CGT_HUMAN UGT8 2-hydroxyacylsphingosine 1-beta-galactosyltransferase 541 61.4 4 2.4.1.47 Membrane; Endoplasmic reticulum 1 0 0 1 5 1997-11-01 Q18PE1 DOK7_HUMAN DOK7 Protein Dok-7 504 53.1 4 Cell membrane; Synapse 0 2 Myasthenic syndrome, congenital, 10; Fetal akinesia deformation sequence 3 0 1 5 2006-09-19 Q1EHB4 SC5AC_HUMAN SLC5A12 Sodium-coupled monocarboxylate transporter 2 618 67.6 11 Apical cell membrane 13 0 0 1 5 2008-05-20 Q1HG44 DOXA2_HUMAN DUOXA2 Dual oxidase maturation factor 2 320 34.8 15 Endoplasmic reticulum membrane; Apical cell membrane 5 1 Thyroid dyshormonogenesis 5 0 1 5 2006-12-12 Q2I0M5 RSPO4_HUMAN RSPO4 R-spondin-4 234 26.2 20 Secreted 0 1 Nail disorder, non-syndromic congenital, 4 0 1 5 2006-05-16 Q2KHN1 RN151_HUMAN RNF151 RING finger protein 151 245 27.4 16 Cytoplasm; Nucleus 0 0 0 1 5 2006-10-31 Q2LD37 BLTP1_HUMAN BLTP1 Bridge-like lipid transfer protein family member 1 5005 555.5 4 Endoplasmic reticulum membrane; Apical cell membrane; Cell membrane; Mitochondrion membrane 1 1 Alkuraya-Kucinskas syndrome 0 1 5 2008-02-05 Q2M3G0 ABCB5_HUMAN ABCB5 ATP-binding cassette sub-family B member 5 1257 138.6 7 Cell membrane 11 0 0 1 5 2006-10-17 Q2M3T9 HYAL4_HUMAN HYAL4 Hyaluronidase-4 481 54.2 7 3.2.1.35 Membrane 2 0 0 1 5 2007-09-11 Q2VIQ3 KIF4B_HUMAN KIF4B Chromosome-associated kinesin KIF4B 1234 140 5 Nucleus matrix; Cytoplasm 0 0 0 1 5 2007-09-11 Q32MK0 MYLK3_HUMAN MYLK3 Myosin light chain kinase 3 819 88.4 16 2.7.11.18 Cytoplasm 0 0 0 1 5 2007-01-23 Q32NB8 PGPS1_HUMAN PGS1 CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial 556 62.7 17 2.7.8.5 Mitochondrion 0 0 0 1 5 2008-05-20 Q32NC0 RMP24_HUMAN RMP24 Ribonuclease MRP protein subunit p24 220 24.8 18 Nucleus 0 0 0 1 5 2007-03-06 Q3KNW5 SOAT_HUMAN SLC10A6 Sodium-dependent organic anion transporter 377 41.3 4 Membrane 9 0 0 1 5 2007-11-13 Q3KP44 ANR55_HUMAN ANKRD55 Ankyrin repeat domain-containing protein 55 614 68.4 5 0 0 0 1 5 2007-02-06 Q3KQV3 ZN792_HUMAN ZNF792 Zinc finger protein 792 632 71.6 19 Nucleus 0 0 0 1 5 2007-07-10 Q3LI70 KR196_HUMAN KRTAP19-6 Keratin-associated protein 19-6 58 6.3 21 0 0 0 1 5 2006-02-21 Q3MHD2 LSM12_HUMAN LSM12 Protein LSM12 195 21.7 17 Cytoplasm 0 0 0 1 5 2007-10-02 Q3MJ16 PA24E_HUMAN PLA2G4E Cytosolic phospholipase A2 epsilon 868 99.2 15 3.1.1.4 Cytoplasm; Early endosome membrane; Lysosome membrane; Cell membrane 0 0 0 1 5 2006-07-25 Q3MJ62 ZSC23_HUMAN ZSCAN23 Zinc finger and SCAN domain-containing protein 23 389 45 6 Nucleus 0 0 0 1 5 2007-03-20 Q3SXP7 SHSL1_HUMAN SHISAL1 Protein shisa-like-1 199 22.6 22 Membrane 1 0 0 1 5 2008-02-26 Q3SY69 AL1L2_HUMAN ALDH1L2 Mitochondrial 10-formyltetrahydrofolate dehydrogenase 923 101.7 12 1.5.1.6 Mitochondrion 0 0 0 1 5 2008-01-15 Q3SYB3 FX4L6_HUMAN FOXD4L6 Forkhead box protein D4-like 6 417 45.8 9 Nucleus 0 0 0 1 5 2007-09-11 Q3SYC2 MOGT2_HUMAN MOGAT2 2-acylglycerol O-acyltransferase 2 334 38.2 11 2.3.1.20, 2.3.1.22 Endoplasmic reticulum membrane; Cytoplasm 3 0 0 1 5 2006-09-05 Q3ZCQ8 TIM50_HUMAN TIMM50 Mitochondrial import inner membrane translocase subunit TIM50 353 39.6 19 Mitochondrion inner membrane 1 1 3-methylglutaconic aciduria 9 0 1 5 2005-12-06 Q494R4 DRC12_HUMAN DRC12 Dynein regulatory complex protein 12 210 23.9 11 Cytoplasm 0 0 0 1 5 2008-07-01 Q496A3 SPAS1_HUMAN SPATS1 Spermatogenesis-associated serine-rich protein 1 300 33.7 6 0 0 0 1 5 2007-10-23 Q49MI3 CERKL_HUMAN CERKL Ceramide kinase-like protein 558 62.6 2 Cytoplasm; Nucleus 0 1 Retinitis pigmentosa 26 0 1 5 2005-12-20 Q4KMG9 TM52B_HUMAN TMEM52B Transmembrane protein 52B 183 20 12 Membrane 1 0 0 1 5 2007-07-10 Q4L180 FIL1L_HUMAN FILIP1L Filamin A-interacting protein 1-like 1135 130.4 3 Cytoplasm; Membrane; Nucleus 0 0 0 1 5 2007-12-04 Q4LDE5 SVEP1_HUMAN SVEP1 Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1 3571 390.2 9 Secreted; Nucleus; Cytoplasm; Membrane 0 0 0 1 5 2008-02-26 Q4LDR2 CTXN3_HUMAN CTXN3 Cortexin-3 81 8.9 5 Membrane 1 0 0 1 5 2007-04-17 Q52LW3 RHG29_HUMAN ARHGAP29 Rho GTPase-activating protein 29 1261 142.1 1 0 0 0 1 5 2008-02-05 Q53EL9 SEZ6_HUMAN SEZ6 Seizure protein 6 homolog 994 107.4 17 Cell membrane 1 0 0 1 5 2008-06-10 Q53EV4 LRC23_HUMAN LRRC23 Leucine-rich repeat-containing protein 23 343 39.8 12 Cell projection; Cytoplasm 0 1 Spermatogenic failure 92 0 1 5 2006-12-12 Q53FD0 ZC21C_HUMAN ZC2HC1C Zinc finger C2HC domain-containing protein 1C 456 51.7 14 0 0 0 1 5 2005-08-30 Q53GD3 CTL4_HUMAN SLC44A4 Choline transporter-like protein 4 710 79.3 6 Membrane; Apical cell membrane 10 1 Deafness, autosomal dominant, 72 0 1 5 2005-08-30 Q53H76 PLA1A_HUMAN PLA1A Phospholipase A1 member A 456 49.7 3 3.1.1.111 Secreted 0 0 0 1 5 2007-01-23 Q53T94 TAF1B_HUMAN TAF1B TATA box-binding protein-associated factor RNA polymerase I subunit B 588 68.8 2 Nucleus 0 0 0 1 5 2006-11-28 Q562E7 WDR81_HUMAN WDR81 WD repeat-containing protein 81 1941 211.7 17 Early endosome membrane; Late endosome membrane; Lysosome membrane; Cytoplasmic vesicle; Mitochondrion; Cytoplasm 0 2 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 0 1 5 2006-07-25 Q56NI9 ESCO2_HUMAN ESCO2 N-acetyltransferase ESCO2 601 68.3 8 2.3.1.- Nucleus; Chromosome 0 2 Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome 0 1 5 2005-06-07 Q56UN5 M3K19_HUMAN MAP3K19 Mitogen-activated protein kinase kinase kinase 19 1328 150.5 2 2.7.11.1 0 0 0 1 5 2006-04-18 Q587J8 KHDC3_HUMAN KHDC3L KH domain-containing protein 3 217 24.3 6 Cytoplasm; Nucleus; Mitochondrion; Chromosome 0 1 Hydatidiform mole, recurrent, 2 0 1 5 2007-12-04 Q5BJH2 TM128_HUMAN TMEM128 Transmembrane protein 128 165 18.8 4 Membrane 4 0 0 1 5 2006-10-31 Q5BKX5 ACTMP_HUMAN ACTMAP Actin maturation protease 351 37.8 19 3.4.11.- Cytoplasm 0 0 0 1 5 2007-08-21 Q5BKX8 CAVN4_HUMAN CAVIN4 Caveolae-associated protein 4 364 41.9 9 Cytoplasm; Cell membrane; Membrane 0 0 0 1 5 2008-03-18 Q5BKZ1 ZN326_HUMAN ZNF326 DBIRD complex subunit ZNF326 582 65.7 1 Nucleus matrix 0 0 0 1 5 2005-08-16 Q5D862 FILA2_HUMAN FLG2 Filaggrin-2 2391 248.1 1 Cytoplasm; Cytoplasmic granule 0 1 Peeling skin syndrome 6 0 1 5 2008-04-29 Q5DX21 IGS11_HUMAN IGSF11 Immunoglobulin superfamily member 11 431 46.1 3 Cell membrane 1 0 0 1 5 2008-02-05 Q5EB52 MEST_HUMAN MEST Mesoderm-specific transcript homolog protein 335 38.8 7 3.-.-.- Endoplasmic reticulum membrane 3 0 0 1 5 2007-04-17 Q5EBL8 PDZ11_HUMAN PDZD11 PDZ domain-containing protein 11 140 16.1 X Secreted 0 0 0 1 5 2005-08-16 Q5F1R6 DJC21_HUMAN DNAJC21 DnaJ homolog subfamily C member 21 531 62 5 Cytoplasm; Nucleus 0 1 Bone marrow failure syndrome 3 0 1 5 2007-03-20 Q5FYB1 ARSI_HUMAN ARSI Arylsulfatase I 569 64 5 3.1.6.- Secreted; Endoplasmic reticulum 0 0 0 1 5 2005-10-11 Q5GFL6 VWA2_HUMAN VWA2 von Willebrand factor A domain-containing protein 2 755 82 10 Secreted 0 0 0 1 5 2007-10-23 Q5H8A4 PIGG_HUMAN PIGG GPI ethanolamine phosphate transferase 2, catalytic subunit 983 108.2 4 2.-.-.- Endoplasmic reticulum membrane 12 1 Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy 0 1 5 2006-07-25 Q5JSL3 DOC11_HUMAN DOCK11 Dedicator of cytokinesis protein 11 2073 237.7 X 0 1 Autoinflammatory disease, multisystem, with immune dysregulation, X-linked 0 1 5 2007-09-11 Q5JUK2 SOLH1_HUMAN SOHLH1 Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 328 34.5 9 Cytoplasm; Nucleus 0 2 Spermatogenic failure 32; Ovarian dysgenesis 5 0 1 5 2008-01-15 Q5KSL6 DGKK_HUMAN DGKK Diacylglycerol kinase kappa 1271 141.8 X 2.7.1.107 Cell membrane 0 0 0 1 5 2006-06-13 Q5M8T2 S35D3_HUMAN SLC35D3 Solute carrier family 35 member D3 416 44.2 6 Cytoplasmic vesicle; Early endosome membrane; Endoplasmic reticulum membrane 10 0 0 1 5 2007-10-23 Q5PRF9 SMAG2_HUMAN SAMD4B Protein Smaug homolog 2 694 75.5 19 Cytoplasm; Nucleus 0 0 0 1 5 2006-11-28 Q5QGT7 RTP2_HUMAN RTP2 Receptor-transporting protein 2 225 26.1 3 Cell membrane 1 0 0 1 5 2005-03-15 Q5RI15 COX20_HUMAN COX20 Cytochrome c oxidase assembly protein COX20, mitochondrial 118 13.3 1 Mitochondrion inner membrane 2 1 Mitochondrial complex IV deficiency, nuclear type 11 0 1 5 2005-07-19 Q5SNT2 TM201_HUMAN TMEM201 Transmembrane protein 201 666 72.2 1 Nucleus inner membrane 5 0 0 1 5 2008-02-05 Q5SR56 S71A2_HUMAN SLC71A2 Solute carrier family 71 member 2 506 54.5 9 Endoplasmic reticulum membrane 12 0 0 1 5 2006-06-13 Q5SRR4 LY65C_HUMAN LY6G5C Lymphocyte antigen 6 complex locus protein G5c 150 16.7 6 Secreted 0 0 0 1 5 2008-03-18 Q5SSQ6 SAPC1_HUMAN SAPCD1 Suppressor APC domain-containing protein 1 148 16.7 6 0 0 0 1 5 2006-06-27 Q5ST30 SYVM_HUMAN VARS2 Valine--tRNA ligase, mitochondrial 1063 118.5 6 6.1.1.9 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 20 0 1 5 2008-06-10 Q5SW24 DACT2_HUMAN DACT2 Dapper homolog 2 774 82.7 6 0 0 0 1 5 2008-03-18 Q5SZL2 CE85L_HUMAN CEP85L Centrosomal protein of 85 kDa-like 805 91.8 6 Cytoplasm 0 1 Lissencephaly 10 0 1 5 2007-08-21 Q5T230 UTF1_HUMAN UTF1 Undifferentiated embryonic cell transcription factor 1 341 36.4 10 Nucleus 0 0 0 1 5 2007-02-06 Q5T4B2 GT253_HUMAN CERCAM Inactive glycosyltransferase 25 family member 3 595 67.6 9 Endoplasmic reticulum lumen 0 0 0 1 5 2007-11-13 Q5T5B0 LCE3E_HUMAN LCE3E Late cornified envelope protein 3E 92 9.5 1 0 0 0 1 5 2006-05-16 Q5T6X5 GPC6A_HUMAN GPRC6A G protein-coupled receptor family C group 6 member A 926 104.8 6 Cell membrane 7 0 0 1 5 2005-12-06 Q5T7M4 ADIPL_HUMAN C1QTNF12 Adipolin 302 32.4 1 Secreted 0 0 0 1 5 2007-04-17 Q5T7P2 LCE1A_HUMAN LCE1A Late cornified envelope protein 1A 110 11 1 0 0 0 1 5 2006-05-16 Q5TA82 LCE2D_HUMAN LCE2D Late cornified envelope protein 2D 110 11.2 1 0 0 0 1 5 2006-05-16 Q5TAB7 RIPP2_HUMAN RIPPLY2 Protein ripply2 128 13.9 6 Nucleus 0 1 Spondylocostal dysostosis 6, autosomal recessive 0 1 5 2007-10-23 Q5TBA9 FRY_HUMAN FRY Protein furry homolog 3013 338.9 13 Cytoplasm 0 0 0 1 5 2007-03-20 Q5TEJ8 THMS2_HUMAN THEMIS2 Protein THEMIS2 643 72 1 Nucleus; Cytoplasm 0 0 0 1 5 2005-08-30 Q5TGZ0 MIC10_HUMAN MICOS10 MICOS complex subunit MIC10 78 8.8 1 Mitochondrion inner membrane 1 0 0 1 5 2006-10-03 Q5THJ4 VP13D_HUMAN VPS13D Intermembrane lipid transfer protein VPS13D 4388 491.9 1 0 1 Spinocerebellar ataxia, autosomal recessive 4 0 1 5 2006-11-28 Q5U5X0 LYRM7_HUMAN LYRM7 Complex III assembly factor LYRM7 104 12 5 Mitochondrion matrix 0 1 Mitochondrial complex III deficiency, nuclear type 8 0 1 5 2006-10-03 Q5U5Z8 CBPC2_HUMAN AGBL2 Cytosolic carboxypeptidase 2 902 104.2 11 3.4.17.- Cytoplasm 0 0 0 1 5 2007-04-03 Q5VIR6 VPS53_HUMAN VPS53 Vacuolar protein sorting-associated protein 53 homolog 832 94.4 17 Golgi apparatus; Endosome membrane; Recycling endosome 0 1 Pontocerebellar hypoplasia 2E 0 1 5 2005-11-22 Q5VST6 AB17B_HUMAN ABHD17B Alpha/beta hydrolase domain-containing protein 17B 288 32.2 9 3.1.2.22 Cell membrane; Recycling endosome membrane; Cell projection; Postsynaptic density membrane 0 0 0 1 5 2007-03-20 Q5VSY0 GKAP1_HUMAN GKAP1 G kinase-anchoring protein 1 366 42.1 9 Golgi apparatus 0 0 0 1 5 2008-01-15 Q5VT25 MRCKA_HUMAN CDC42BPA Serine/threonine-protein kinase MRCK alpha 1732 197.3 1 2.7.11.1 Cytoplasm; Cell projection 0 0 0 1 5 2005-11-08 Q5VTJ3 KLD7A_HUMAN KLHDC7A Kelch domain-containing protein 7A 777 84.5 1 Membrane 1 0 0 1 5 2007-05-01 Q5VV63 ATRN1_HUMAN ATRNL1 Attractin-like protein 1 1379 152.6 10 Membrane 1 0 0 1 5 2008-05-20 Q5VV67 PPRC1_HUMAN PPRC1 Peroxisome proliferator-activated receptor gamma coactivator-related protein 1 1664 177.5 10 Nucleus 0 0 0 1 5 2007-07-24 Q5VYJ5 MALR1_HUMAN MALRD1 MAM and LDL-receptor class A domain-containing protein 1 2156 241 10 Cytoplasmic vesicle membrane 1 0 0 1 5 2008-04-08 Q5W0B1 OBI1_HUMAN OBI1 ORC ubiquitin ligase 1 726 81.1 13 2.3.2.27 Chromosome 0 0 0 1 5 2005-08-30 Q63HQ0 AP1AR_HUMAN AP1AR AP-1 complex-associated regulatory protein 302 34.3 4 Golgi apparatus; Late endosome; Early endosome 0 0 0 1 5 2005-08-30 Q68G75 LEMD1_HUMAN LEMD1 LEM domain-containing protein 1 181 20.3 1 Membrane 1 0 0 1 5 2007-05-01 Q69YG0 TMM42_HUMAN TMEM42 Transmembrane protein 42 159 17 3 Membrane 4 0 0 1 5 2007-04-17 Q6A162 K1C40_HUMAN KRT40 Keratin, type I cytoskeletal 40 431 48.1 17 0 0 0 1 5 2008-01-15 Q6AZY7 SCAR3_HUMAN SCARA3 Scavenger receptor class A member 3 606 65.1 8 Endoplasmic reticulum membrane; Golgi apparatus membrane 1 0 0 1 5 2006-02-07 Q6AZZ1 TRI68_HUMAN TRIM68 E3 ubiquitin-protein ligase TRIM68 485 56.3 11 2.3.2.27 Cytoplasm; Nucleus 0 0 0 1 5 2006-09-19 Q6BCY4 NB5R2_HUMAN CYB5R2 NADH-cytochrome b5 reductase 2 276 31.5 11 1.6.2.2 0 0 0 1 5 2007-05-15 Q6BDS2 BLT3A_HUMAN BLTP3A Bridge-like lipid transfer protein family member 3A 1440 159.5 6 Late endosome 0 0 0 1 5 2005-06-07 Q6DN14 MCTP1_HUMAN MCTP1 Multiple C2 and transmembrane domain-containing protein 1 999 111.6 5 Cytoplasmic vesicle; Recycling endosome; Endoplasmic reticulum membrane 2 0 0 1 5 2007-07-10 Q6FIF0 ZFAN6_HUMAN ZFAND6 AN1-type zinc finger protein 6 208 22.6 15 Cytoplasm 0 0 0 1 5 2006-07-11 Q6H3X3 ULBP5_HUMAN RAET1G UL-16 binding protein 5 334 37.1 6 Cell membrane; Endoplasmic reticulum 1 0 0 1 5 2004-12-21 Q6IQ16 SPOPL_HUMAN SPOPL Speckle-type POZ protein-like 392 44.6 2 Nucleus 0 0 0 1 5 2007-02-06 Q6J9G0 STYK1_HUMAN STYK1 Tyrosine-protein kinase STYK1 422 47.6 12 2.7.10.2 Membrane 1 0 0 1 5 2005-04-26 Q6JBY9 CPZIP_HUMAN RCSD1 CapZ-interacting protein 416 44.5 1 0 0 0 1 5 2008-02-26 Q6KB66 K2C80_HUMAN KRT80 Keratin, type II cytoskeletal 80 452 50.5 12 0 0 0 1 5 2008-01-15 Q6KF10 GDF6_HUMAN GDF6 Growth/differentiation factor 6 455 50.7 8 Secreted 0 5 Klippel-Feil syndrome 1, autosomal dominant; Microphthalmia, isolated, 4; Leber congenital amaurosis 17; Multiple synostoses syndrome 4; Deafness, autosomal recessive, 118, with cochlear aplasia 0 1 5 2005-10-11 Q6L8H1 KRA54_HUMAN KRTAP5-4 Keratin-associated protein 5-4 288 25.2 0 0 0 1 5 2004-12-21 Q6L8H4 KRA51_HUMAN KRTAP5-1 Keratin-associated protein 5-1 278 24.2 11 0 0 0 1 5 2004-12-21 Q6MZM0 HPHL1_HUMAN HEPHL1 Ferroxidase HEPHL1 1159 131.6 11 1.16.3.1 Membrane 1 1 Abnormal hair, joint laxity, and developmental delay 0 1 5 2008-09-02 Q6NSJ5 LRC8E_HUMAN LRRC8E Volume-regulated anion channel subunit LRRC8E 796 90.2 19 Cell membrane; Endoplasmic reticulum membrane; Lysosome membrane 4 0 0 1 5 2006-02-07 Q6NT55 CP4FN_HUMAN CYP4F22 Ultra-long-chain fatty acid omega-hydroxylase 531 62 19 1.14.14.177 Endoplasmic reticulum membrane; Microsome membrane 1 1 Ichthyosis, congenital, autosomal recessive 5 0 1 5 2007-07-10 Q6NTE8 MRNIP_HUMAN MRNIP MRN complex-interacting protein 343 37.7 5 Nucleus 0 0 0 1 5 2008-03-18 Q6NUS8 UD3A1_HUMAN UGT3A1 UDP-glycosyltransferase 3A1 523 59.2 5 2.4.1.170 Membrane 1 0 0 1 5 2007-08-21 Q6NWY9 PR40B_HUMAN PRPF40B Pre-mRNA-processing factor 40 homolog B 871 99.4 12 Nucleus speckle 0 0 0 1 5 2007-11-13 Q6NX45 ZN774_HUMAN ZNF774 Zinc finger protein 774 483 55.1 15 Nucleus 0 0 0 1 5 2006-12-12 Q6NXR0 IIGP5_HUMAN IRGC Interferon-inducible GTPase 5 463 50.3 19 3.6.5.- Cell projection; Lipid droplet 0 0 0 1 5 2007-05-01 Q6P050 FXL22_HUMAN FBXL22 F-box and leucine-rich protein 22 231 26 15 Cytoplasm 0 0 0 1 5 2006-07-25 Q6P1J6 PLB1_HUMAN PLB1 Phospholipase B1, membrane-associated 1458 163.1 2 Apical cell membrane 1 0 0 1 5 2008-03-18 Q6P1L5 F117B_HUMAN FAM117B Protein FAM117B 589 62 2 0 0 0 1 5 2007-09-11 Q6P1Q9 MET2B_HUMAN METTL2B tRNA N(3)-cytidine methyltransferase METTL2B 378 43.4 7 2.1.1.- Cytoplasm 0 0 0 1 5 2008-04-08 Q6P2E9 EDC4_HUMAN EDC4 Enhancer of mRNA-decapping protein 4 1401 151.7 16 Cytoplasm; Nucleus 0 0 0 1 5 2007-03-06 Q6P3W7 SCYL2_HUMAN SCYL2 SCY1-like protein 2 929 103.7 12 Cytoplasmic vesicle; Golgi apparatus; Endosome membrane 0 1 Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 0 1 5 2006-10-17 Q6P9F5 TRI40_HUMAN TRIM40 E3 ubiquitin ligase TRIM40 258 29.3 6 2.3.2.27 0 0 0 1 5 2004-12-07 Q6P9H4 CNKR3_HUMAN CNKSR3 Connector enhancer of kinase suppressor of ras 3 555 61.9 6 Cytoplasm; Apical cell membrane 0 0 0 1 5 2007-11-13 Q6PF05 TT23L_HUMAN TTC23L Tetratricopeptide repeat protein 23-like 361 40.8 5 Cytoplasm; Midbody 0 0 0 1 5 2008-05-20 Q6PI78 TMM65_HUMAN TMEM65 Transmembrane protein 65 240 25.5 8 Mitochondrion inner membrane; Cell membrane 3 0 0 1 5 2006-10-03 Q6PJ61 FBX46_HUMAN FBXO46 F-box only protein 46 603 64.6 19 0 0 0 1 5 2004-08-16 Q6PJG9 LRFN4_HUMAN LRFN4 Leucine-rich repeat and fibronectin type-III domain-containing protein 4 635 66.9 11 Membrane 1 0 0 1 5 2005-03-29 Q6PL24 TMED8_HUMAN TMED8 Protein TMED8 325 35.7 14 0 0 0 1 5 2005-03-29 Q6Q788 APOA5_HUMAN APOA5 Apolipoprotein A-V 366 41.2 11 Secreted; Early endosome; Late endosome; Golgi apparatus 0 2 Hypertriglyceridemia 1; Hyperlipoproteinemia 5 0 1 5 2005-02-01 Q6QHF9 PAOX_HUMAN PAOX Peroxisomal N(1)-acetyl-spermine/spermidine oxidase 511 55.5 10 1.5.3.13 Peroxisome; Cytoplasm 0 0 0 1 5 2004-08-16 Q6QNY1 BL1S2_HUMAN BLOC1S2 Biogenesis of lysosome-related organelles complex 1 subunit 2 142 16 10 Cytoplasm; Lysosome membrane 0 0 0 1 5 2006-05-16 Q6RW13 ATRAP_HUMAN AGTRAP Type-1 angiotensin II receptor-associated protein 159 17.4 1 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle membrane 3 0 0 1 5 2005-07-19 Q6S8J3 POTEE_HUMAN POTEE POTE ankyrin domain family member E 1075 121.4 2 0 0 0 1 5 2004-11-23 Q6T4R5 NHS_HUMAN NHS Actin remodeling regulator NHS 1651 179.1 X Apical cell membrane; Cell projection; Cell junction 0 2 Nance-Horan syndrome; Cataract 40 0 1 5 2005-03-29 Q6UB99 ANR11_HUMAN ANKRD11 Ankyrin repeat domain-containing protein 11 2663 297.9 16 Nucleus 0 1 KBG syndrome 0 1 5 2004-07-19 Q6UUV7 CRTC3_HUMAN CRTC3 CREB-regulated transcription coactivator 3 619 67 15 Nucleus; Cytoplasm 0 0 0 1 5 2008-02-05 Q6UVM3 KCNT2_HUMAN KCNT2 Potassium channel subfamily T member 2 1135 130.5 1 Cell membrane 6 1 Developmental and epileptic encephalopathy 57 0 1 5 2007-12-04 Q6UW60 PCSK4_HUMAN PCSK4 Proprotein convertase subtilisin/kexin type 4 755 82.8 19 3.4.21.- Membrane; Cytoplasmic vesicle 1 0 0 1 5 2006-07-25 Q6UW68 TM205_HUMAN TMEM205 Transmembrane protein 205 189 21.2 19 Membrane 4 0 0 1 5 2008-02-05 Q6UWI2 PARM1_HUMAN PARM1 Prostate androgen-regulated mucin-like protein 1 310 32.3 4 Cell membrane; Golgi apparatus membrane; Endosome membrane 1 0 0 1 5 2006-01-10 Q6UWL6 KIRR2_HUMAN KIRREL2 Kin of IRRE-like protein 2 708 75.1 19 Cell membrane 1 0 0 1 5 2004-10-25 Q6UWN5 LYPD5_HUMAN LYPD5 Ly6/PLAUR domain-containing protein 5 251 26.9 19 Cell membrane 0 0 0 1 5 2006-03-07 Q6UWY0 ARSK_HUMAN ARSK Arylsulfatase K 536 61.5 5 3.1.6.1 Secreted; Lysosome 0 1 Mucopolysaccharidosis 10 0 1 5 2005-10-11 Q6UX53 TMT1B_HUMAN TMT1B Thiol S-methyltransferase TMT1B 244 27.8 12 2.1.1.9 Endoplasmic reticulum membrane; Lipid droplet; Microsome; Cytoplasm 0 0 0 1 5 2006-10-03 Q6UX98 ZDH24_HUMAN ZDHHC24 Probable palmitoyltransferase ZDHHC24 284 30.2 11 2.3.1.225 Membrane 5 0 0 1 5 2006-05-02 Q6UXK2 ISLR2_HUMAN ISLR2 Immunoglobulin superfamily containing leucine-rich repeat protein 2 745 79 15 Cell membrane 1 0 0 1 5 2008-02-05 Q6UXN9 WDR82_HUMAN WDR82 WD repeat-containing protein 82 313 35.1 3 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 2007-03-06 Q6UXY1 BI2L2_HUMAN BAIAP2L2 BAR/IMD domain-containing adapter protein 2-like 2 529 59 22 Cell membrane; Cell junction; Cytoplasmic vesicle membrane 0 0 0 1 5 2006-10-31 Q6W3E5 GDE6_HUMAN GDPD4 Glycerophosphodiester phosphodiesterase 6 623 72 11 3.1.4.- Cell membrane 6 0 0 2 5 2006-10-03 Q6X4U4 SOSD1_HUMAN SOSTDC1 Sclerostin domain-containing protein 1 206 23.3 7 Secreted 0 0 0 1 5 2005-03-29 Q6XYQ8 SYT10_HUMAN SYT10 Synaptotagmin-10 523 59.1 12 Cytoplasmic vesicle 1 0 0 1 5 2004-09-27 Q6YBV0 S36A4_HUMAN SLC36A4 Neutral amino acid uniporter 4 504 56.2 11 Lysosome membrane 10 0 0 1 5 2007-10-23 Q6ZMQ8 LMTK1_HUMAN AATK Serine/threonine-protein kinase LMTK1 1374 144.6 17 2.7.11.1 Membrane; Cytoplasm 1 0 0 1 5 2006-09-05 Q6ZMY3 SPOC1_HUMAN SPOCD1 SPOC domain-containing protein 1 1216 130 1 Nucleus; Chromosome 0 0 0 1 5 2007-05-15 Q6ZN30 BNC2_HUMAN BNC2 Zinc finger protein basonuclin-2 1099 122.3 9 Nucleus 0 1 Lower urinary tract obstruction, congenital 0 1 5 2005-11-08 Q6ZN57 ZFP2_HUMAN ZFP2 Zinc finger protein ZFP2 461 52.7 5 Nucleus 0 0 0 1 5 2007-06-26 Q6ZP82 CC141_HUMAN CCDC141 Coiled-coil domain-containing protein 141 1530 175.1 2 Cytoplasm 0 0 0 1 5 2008-02-05 Q6ZQY3 GADL1_HUMAN GADL1 Acidic amino acid decarboxylase GADL1 521 59.2 3 0 0 0 1 5 2007-12-04 Q6ZRV2 SCK1H_HUMAN SACK1H Scaffolding CK1 anchoring protein H 1179 127.1 8 Cytoplasm 0 1 Amelogenesis imperfecta 3A 0 1 5 2008-03-18 Q6ZS17 RIPR1_HUMAN RIPOR1 Rho family-interacting cell polarization regulator 1 1223 132.3 16 Cytoplasm; Golgi apparatus 0 0 0 1 5 2007-05-29 Q6ZSA7 LRC55_HUMAN LRRC55 Leucine-rich repeat-containing protein 55 298 33 11 Cell membrane 1 0 0 1 5 2006-04-18 Q6ZSY5 PPR3F_HUMAN PPP1R3F Protein phosphatase 1 regulatory subunit 3F 799 82.8 X Membrane 1 0 0 1 5 2006-10-31 Q6ZU35 CRACD_HUMAN CRACD Capping protein-inhibiting regulator of actin dynamics 1233 136.8 4 Cytoplasm 0 0 0 1 5 2008-07-01 Q6ZU52 K0408_HUMAN KIAA0408 Uncharacterized protein KIAA0408 694 79.2 6 0 0 0 1 5 2006-07-25 Q6ZUT1 NKAP1_HUMAN NKAPD1 Uncharacterized protein NKAPD1 292 34.1 11 0 0 0 1 5 2007-02-06 Q6ZWL3 CP4V2_HUMAN CYP4V2 Cytochrome P450 4V2 525 60.7 4 Endoplasmic reticulum membrane 1 1 Bietti crystalline corneoretinal dystrophy 0 1 5 2005-08-02 Q70EK8 UBP53_HUMAN USP53 Ubiquitin carboxyl-terminal hydrolase 53 1073 120.8 4 3.4.19.12 Cell junction 0 1 Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 1 5 2006-02-07 Q70EL4 UBP43_HUMAN USP43 Ubiquitin carboxyl-terminal hydrolase 43 1123 122.8 17 3.4.19.12 0 0 0 1 5 2006-09-19 Q70UQ0 IKIP_HUMAN IKBIP Inhibitor of nuclear factor kappa-B kinase-interacting protein 350 39.3 12 Endoplasmic reticulum membrane 1 0 0 1 5 2008-07-01 Q70Z44 5HT3D_HUMAN HTR3D 5-hydroxytryptamine receptor 3D 454 50.2 3 Postsynaptic cell membrane; Cell membrane 4 0 0 1 5 2007-12-04 Q71RG4 TMUB2_HUMAN TMUB2 Transmembrane and ubiquitin-like domain-containing protein 2 321 33.8 17 Membrane 3 0 0 1 5 2006-07-11 Q71RS6 NCKX5_HUMAN SLC24A5 Sodium/potassium/calcium exchanger 5 500 54.9 15 Golgi apparatus; Melanosome 11 1 Albinism, oculocutaneous, 6 0 1 5 2006-01-10 Q75N03 HAKAI_HUMAN CBLL1 E3 ubiquitin-protein ligase Hakai 491 54.5 7 2.3.2.27 Nucleus speckle; Nucleus; Cytoplasm 0 0 0 1 5 2007-04-17 Q765P7 MTSS2_HUMAN MTSS2 Protein MTSS 2 747 79.9 16 Cytoplasm; Cell projection 0 1 Intellectual developmental disorder with ocular anomalies and distinctive facial features 0 1 5 2008-02-26 Q7L099 RUFY3_HUMAN RUFY3 Protein RUFY3 469 53 4 Cytoplasm; Endomembrane system; Cell projection; Perikaryon; Lysosome 0 0 0 1 5 2006-07-11 Q7L0X0 TRIL_HUMAN TRIL TLR4 interactor with leucine rich repeats 811 88.7 7 Membrane 1 0 0 1 5 2008-09-02 Q7L1Q6 5MP2_HUMAN BZW1 eIF5-mimic protein 2 419 48 2 0 0 0 1 5 2006-10-31 Q7L4E1 MIGA2_HUMAN MIGA2 Mitoguardin 2 593 65.5 9 Mitochondrion outer membrane 2 0 0 1 5 2008-01-15 Q7L592 NDUF7_HUMAN NDUFAF7 Protein arginine methyltransferase NDUFAF7, mitochondrial 441 49.2 2 2.1.1.320 Mitochondrion 0 0 0 1 5 2008-01-15 Q7L5A3 ATOSB_HUMAN ATOSB Atos homolog protein B 538 56.7 9 Nucleus 0 0 0 1 5 2008-01-15 Q7L775 EPMIP_HUMAN EPM2AIP1 EPM2A-interacting protein 1 607 70.4 3 Endoplasmic reticulum 0 0 0 1 5 2004-08-16 Q7L7V1 DHX32_HUMAN DHX32 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 743 84.4 10 3.6.4.13 Nucleus; Mitochondrion 0 0 0 1 5 2007-06-26 Q7LFX5 CHSTF_HUMAN CHST15 Carbohydrate sulfotransferase 15 561 64.9 10 2.8.2.33 Golgi apparatus membrane 1 0 0 1 5 2006-03-07 Q7RTP0 NIPA1_HUMAN NIPA1 Magnesium transporter NIPA1 329 34.6 15 Cell membrane; Early endosome 9 1 Spastic paraplegia 6, autosomal dominant 0 1 5 2005-08-30 Q7RTS3 PTF1A_HUMAN PTF1A Pancreas transcription factor 1 subunit alpha 328 35 10 Nucleus; Cytoplasm 0 2 Pancreatic and cerebellar agenesis; Pancreatic agenesis 2 0 1 5 2006-05-02 Q7RTW8 OTOAN_HUMAN OTOA Otoancorin 1153 128.5 16 Apical cell membrane; Secreted 0 1 Deafness, autosomal recessive, 22 0 1 5 2004-12-07 Q7Z2H8 S36A1_HUMAN SLC36A1 Proton-coupled amino acid transporter 1 476 53.1 5 Cell membrane; Apical cell membrane; Lysosome membrane 11 0 0 1 5 2004-08-16 Q7Z2Y5 NRK_HUMAN NRK Nik-related protein kinase 1582 178.5 X 2.7.11.1 0 0 0 1 5 2006-10-03 Q7Z2Z1 TICRR_HUMAN TICRR Treslin 1910 210.9 15 Nucleus 0 0 0 1 5 2007-07-24 Q7Z333 SETX_HUMAN SETX Helicase senataxin 2677 302.9 9 5.6.2.3 Nucleus; Cytoplasm; Chromosome; Cell projection 0 2 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2; Amyotrophic lateral sclerosis 4 0 1 5 2004-06-07 Q7Z3H0 PANKY_HUMAN ANKRD33 Photoreceptor ankyrin repeat protein 452 49.4 12 Cytoplasm; Nucleus 0 0 0 1 5 2006-06-27 Q7Z3H4 SAMD7_HUMAN SAMD7 Sterile alpha motif domain-containing protein 7 446 49.1 3 Nucleus; Cytoplasm 0 1 Macular dystrophy with or without cone dysfunction 0 1 5 2006-12-12 Q7Z3K6 MIER3_HUMAN MIER3 Mesoderm induction early response protein 3 550 61.4 5 Nucleus 0 0 0 1 5 2008-01-15 Q7Z3U7 MON2_HUMAN MON2 Protein MON2 homolog 1717 190.4 12 Early endosome membrane 0 0 0 1 5 2007-08-21 Q7Z417 NUFP2_HUMAN NUFIP2 FMR1-interacting protein NUFIP2 695 76.1 17 Nucleus; Cytoplasm 0 0 0 1 5 2006-07-11 Q7Z4W3 KR193_HUMAN KRTAP19-3 Keratin-associated protein 19-3 81 8.2 21 0 0 0 1 5 2006-02-21 Q7Z570 Z804A_HUMAN ZNF804A Zinc finger protein 804A 1209 136.9 2 0 0 0 1 5 2006-04-18 Q7Z5L7 PODN_HUMAN PODN Podocan 613 69 1 Secreted 0 0 0 1 5 2006-11-28 Q7Z5N4 SDK1_HUMAN SDK1 Protein sidekick-1 2213 242.1 7 Cell membrane; Synapse 1 0 0 1 5 2006-03-07 Q7Z5Q1 CPEB2_HUMAN CPEB2 Cytoplasmic polyadenylation element-binding protein 2 589 64.9 4 Cytoplasm 0 0 0 1 5 2006-12-12 Q7Z5Y6 BMP8A_HUMAN BMP8A Bone morphogenetic protein 8A 402 44.8 1 Secreted 0 0 0 1 5 2006-03-21 Q7Z6G3 NECA2_HUMAN NECAB2 N-terminal EF-hand calcium-binding protein 2 386 43.2 16 Cytoplasm; Cell projection; Cell membrane 0 0 0 1 5 2007-04-03 Q7Z6J4 FGD2_HUMAN FGD2 FYVE, RhoGEF and PH domain-containing protein 2 655 74.9 6 Cytoplasm; Nucleus; Early endosome; Early endosome membrane; Cell projection 0 0 0 1 5 2005-03-15 Q7Z6L0 PRRT2_HUMAN PRRT2 Proline-rich transmembrane protein 2 340 34.9 16 Cell membrane; Presynaptic cell membrane; Synapse; Cell projection; Cytoplasmic vesicle; Postsynaptic density membrane 1 3 Episodic kinesigenic dyskinesia 1; Convulsions, familial infantile, with paroxysmal choreoathetosis; Seizures, benign familial infantile, 2 0 1 5 2007-10-23 Q7Z794 K2C1B_HUMAN KRT77 Keratin, type II cytoskeletal 1b 578 61.9 12 0 0 0 1 5 2005-05-24 Q7Z7A4 PXK_HUMAN PXK PX domain-containing protein kinase-like protein 578 65 3 Cytoplasm; Cell membrane 0 0 0 1 5 2005-12-06 Q7Z7B1 PIGW_HUMAN PIGW Glucosaminyl-phosphatidylinositol-acyltransferase PIGW 504 56.9 17 2.3.-.- Endoplasmic reticulum membrane 13 1 Glycosylphosphatidylinositol biosynthesis defect 11 0 1 5 2006-07-25 Q7Z7G0 TARSH_HUMAN ABI3BP Target of Nesh-SH3 1068 117.9 3 Secreted 0 0 0 1 5 2004-07-19 Q7Z7G8 VP13B_HUMAN VPS13B Intermembrane lipid transfer protein VPS13B 4022 448.7 8 Recycling endosome membrane; Cytoplasmic vesicle; Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane; Early endosome membrane; Lysosome membrane 0 1 Cohen syndrome 0 1 5 2004-02-16 Q7Z7H5 TMED4_HUMAN TMED4 Transmembrane emp24 domain-containing protein 4 227 25.9 7 Endoplasmic reticulum membrane 1 0 0 1 5 2005-03-29 Q86SG2 ANR23_HUMAN ANKRD23 Ankyrin repeat domain-containing protein 23 305 34.3 2 Nucleus 0 0 0 1 5 2006-06-27 Q86SG6 NEK8_HUMAN NEK8 Serine/threonine-protein kinase Nek8 692 74.8 17 2.7.11.1 Cytoplasm; Cell projection 0 3 Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2; Polycystic kidney disease 8 0 1 5 2003-08-15 Q86SJ6 DSG4_HUMAN DSG4 Desmoglein-4 1040 113.8 18 Cell membrane; Cell junction 1 1 Hypotrichosis 6 0 1 5 2005-03-01 Q86SM8 MRGRE_HUMAN MRGPRE Mas-related G protein-coupled receptor member E 312 34.3 11 Cell membrane 7 0 0 1 5 2004-08-31 Q86SS6 SYT9_HUMAN SYT9 Synaptotagmin-9 491 56.2 11 Cytoplasmic vesicle 1 0 0 1 5 2003-07-19 Q86TB3 ALPK2_HUMAN ALPK2 Alpha-protein kinase 2 2170 237 18 2.7.11.1 Basolateral cell membrane 0 0 0 1 5 2006-11-28 Q86TY3 ARMD4_HUMAN ARMH4 Armadillo-like helical domain-containing protein 4 774 84.2 14 Membrane 1 0 0 1 5 2006-10-03 Q86U90 YRDC_HUMAN YRDC Threonylcarbamoyl-AMP synthase 279 29.3 1 2.7.7.87 Cytoplasm; Mitochondrion; Cell membrane 0 1 Galloway-Mowat syndrome 10 0 1 5 2008-06-10 Q86UA6 RIP_HUMAN RPAIN RPA-interacting protein 219 24.8 17 Cytoplasm; Nucleus 0 0 0 1 5 2005-12-06 Q86UB2 BIVM_HUMAN BIVM Basic immunoglobulin-like variable motif-containing protein 503 56.8 13 Cytoplasm; Nucleus 0 0 0 1 5 2008-04-08 Q86UD0 SAPC2_HUMAN SAPCD2 Suppressor APC domain-containing protein 2 394 42.6 9 Cytoplasm; Nucleus; Apical cell membrane; Cell junction 0 0 0 1 5 2007-05-15 Q86UD3 MARH3_HUMAN MARCHF3 E3 ubiquitin-protein ligase MARCHF3 253 28.5 5 2.3.2.27 Cytoplasmic vesicle membrane; Early endosome membrane 2 0 0 1 5 2005-02-15 Q86UK7 ZN598_HUMAN ZNF598 E3 ubiquitin-protein ligase ZNF598 904 98.6 2.3.2.27 Cytoplasm 0 0 0 1 5 2006-10-03 Q86UP0 CAD24_HUMAN CDH24 Cadherin-24 819 87.8 14 Cell membrane 1 0 0 1 5 2003-10-31 Q86UV6 TRI74_HUMAN TRIM74 Tripartite motif-containing protein 74 250 28.5 7 0 0 0 1 5 2004-12-07 Q86UW7 CAPS2_HUMAN CADPS2 Calcium-dependent secretion activator 2 1296 147.7 7 Cytoplasmic vesicle membrane; Synapse; Cell projection; Cytoplasm 0 0 0 1 5 2006-01-10 Q86VE0 MYPOP_HUMAN MYPOP Myb-related transcription factor, partner of profilin 399 42.5 19 Nucleus 0 0 0 1 5 2008-07-22 Q86VF2 IGFN1_HUMAN IGFN1 Immunoglobulin-like and fibronectin type III domain-containing protein 1 1251 137.8 1 Nucleus; Cytoplasm 0 0 0 1 5 2008-09-02 Q86VH5 LRRT3_HUMAN LRRTM3 Leucine-rich repeat transmembrane neuronal protein 3 581 65.9 10 Cell membrane; Postsynaptic cell membrane 1 0 0 1 5 2005-06-21 Q86VL8 S47A2_HUMAN SLC47A2 Multidrug and toxin extrusion protein 2 602 65.1 17 Cell membrane; Apical cell membrane 13 0 0 1 5 2007-12-04 Q86VP3 PACS2_HUMAN PACS2 Phosphofurin acidic cluster sorting protein 2 889 97.7 14 Endoplasmic reticulum; Mitochondrion 0 1 Developmental and epileptic encephalopathy 66 0 1 5 2006-10-31 Q86VQ0 LCA5_HUMAN LCA5 Lebercilin 697 80.6 6 Cytoplasm; Cell projection 0 1 Leber congenital amaurosis 5 0 1 5 2005-08-02 Q86VQ3 TXND2_HUMAN TXNDC2 Thioredoxin domain-containing protein 2 553 60.4 18 Cytoplasm 0 0 0 1 5 2005-07-05 Q86WB0 ZC3C1_HUMAN ZC3HC1 Zinc finger C3HC-type protein 1 502 55.3 7 Nucleus; Nucleus envelope 0 0 0 1 5 2005-08-30 Q86WG3 ATCAY_HUMAN ATCAY Caytaxin 371 42.1 19 Cell projection; Presynapse; Mitochondrion; Cytoplasm 0 1 Cerebellar ataxia, cayman type 0 1 5 2003-10-31 Q86X29 LSR_HUMAN LSR Lipolysis-stimulated lipoprotein receptor 649 71.4 19 Cell membrane; Cell junction 1 0 0 1 5 2006-07-11 Q86XJ1 GA2L3_HUMAN GAS2L3 GAS2-like protein 3 694 75.2 12 Cytoplasm 0 0 0 1 5 2005-08-30 Q86XM0 CTSRD_HUMAN CATSPERD Cation channel sperm-associated auxiliary subunit delta 798 90.5 19 Cell projection 1 0 0 1 5 2007-05-15 Q86XT2 VP37D_HUMAN VPS37D Vacuolar protein sorting-associated protein 37D 251 27.7 7 Late endosome membrane 0 0 0 1 5 2008-04-08 Q86Y33 CD20B_HUMAN CDC20B Cell division cycle protein 20 homolog B 519 57.3 5 Cytoplasm 0 0 0 1 5 2008-06-10 Q86Y56 DAAF5_HUMAN DNAAF5 Dynein axonemal assembly factor 5 855 93.5 7 Cytoplasm; Dynein axonemal particle 0 1 Ciliary dyskinesia, primary, 18 0 1 5 2005-11-08 Q86YD7 F90A1_HUMAN FAM90A1 Protein FAM90A1 464 49.8 12 0 0 0 1 5 2007-09-11 Q86YS7 C2CD5_HUMAN C2CD5 C2 domain-containing protein 5 1000 110.4 12 Cytoplasmic vesicle membrane; Cytoplasm; Cell membrane; Cell projection 0 0 0 1 5 2006-07-25 Q86YW0 PLCZ1_HUMAN PLCZ1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 608 70.4 12 3.1.4.11 Nucleus; Cytoplasm; Cytoplasmic vesicle 0 1 Spermatogenic failure 17 0 1 5 2008-09-02 Q86YZ3 HORN_HUMAN HRNR Hornerin 2850 282.4 1 Cytoplasmic granule 0 0 0 1 5 2004-03-15 Q86Z02 HIPK1_HUMAN HIPK1 Homeodomain-interacting protein kinase 1 1210 130.8 1 2.7.11.1 Nucleus; Cytoplasm; Nucleus speckle 0 0 0 1 5 2003-08-29 Q8IU81 I2BP1_HUMAN IRF2BP1 Interferon regulatory factor 2-binding protein 1 584 61.7 19 Nucleus 0 0 0 1 5 2008-04-08 Q8IUC3 KRA71_HUMAN KRTAP7-1 Keratin-associated protein 7-1 87 9.3 21 0 0 0 1 5 2003-07-19 Q8IUD2 RB6I2_HUMAN ERC1 ELKS/Rab6-interacting/CAST family member 1 1116 128.1 12 Cytoplasm; Membrane; Golgi apparatus membrane; Presynaptic cell membrane; Cell projection 0 0 0 1 5 2004-08-31 Q8IUG1 KRA13_HUMAN KRTAP1-3 Keratin-associated protein 1-3 167 17.1 17 0 0 0 1 5 2006-02-21 Q8IUH4 ZDH13_HUMAN ZDHHC13 Palmitoyltransferase ZDHHC13 622 70.9 11 2.3.1.225 Golgi apparatus membrane; Cytoplasmic vesicle membrane 6 0 0 1 5 2004-04-13 Q8IUW3 SPA2L_HUMAN SPATA2L Spermatogenesis-associated protein 2-like protein 424 46.2 16 0 0 0 1 5 2007-08-21 Q8IUX7 AEBP1_HUMAN AEBP1 Adipocyte enhancer-binding protein 1 1158 130.9 7 Secreted 0 1 Ehlers-Danlos syndrome, classic-like, 2 0 1 5 2008-05-20 Q8IUY3 GRM2A_HUMAN GRAMD2A GRAM domain-containing protein 2A 354 40.2 15 Endoplasmic reticulum membrane; Cell membrane 1 0 0 1 5 2007-05-15 Q8IV36 HID1_HUMAN HID1 Protein HID1 788 88.7 17 Cytoplasm; Golgi apparatus 0 1 Developmental and epileptic encephalopathy 105 with hypopituitarism 0 1 5 2005-07-05 Q8IVF5 TIAM2_HUMAN TIAM2 Rho guanine nucleotide exchange factor TIAM2 1701 190.1 6 Cytoplasm; Cell projection; Perikaryon 0 0 0 1 5 2008-02-05 Q8IVG5 SAM9L_HUMAN SAMD9L Sterile alpha motif domain-containing protein 9-like 1584 184.5 7 Early endosome; Mitochondrion 0 3 Ataxia-pancytopenia syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 1; Spinocerebellar ataxia 49 0 1 5 2007-03-06 Q8IVL5 P3H2_HUMAN P3H2 Prolyl 3-hydroxylase 2 708 81 3 1.14.11.7 Endoplasmic reticulum; Sarcoplasmic reticulum; Golgi apparatus 0 1 Myopia, high, with cataract and vitreoretinal degeneration 0 1 5 2006-06-27 Q8IVM8 S22A9_HUMAN SLC22A9 Organic anion transporter 7 553 62.2 11 Basolateral cell membrane 12 0 0 1 5 2006-05-02 Q8IVS8 GLCTK_HUMAN GLYCTK Glycerate kinase 523 55.3 3 2.7.1.31 Mitochondrion matrix 0 1 D-glyceric aciduria 0 1 5 2007-05-15 Q8IVT2 MISP_HUMAN MISP Mitotic interactor and substrate of PLK1 679 75.4 19 Cell junction; Cytoplasm 0 0 0 1 5 2005-08-16 Q8IW40 DAA19_HUMAN DNAAF19 Dynein axonemal assembly factor 19 242 27.2 17 Cytoplasm; Cell projection 0 1 Ciliary dyskinesia, primary, 17 0 1 5 2006-12-12 Q8IW41 MAPK5_HUMAN MAPKAPK5 MAP kinase-activated protein kinase 5 473 54.2 12 2.7.11.1 Cytoplasm; Nucleus 0 1 Neurocardiofaciodigital syndrome 0 1 5 2004-09-13 Q8IWA5 CTL2_HUMAN SLC44A2 Choline transporter-like protein 2 706 80.1 19 Cell membrane; Mitochondrion outer membrane 10 0 0 1 5 2005-08-30 Q8IWK6 AGRA3_HUMAN ADGRA3 Adhesion G protein-coupled receptor A3 1321 146.2 4 Membrane 7 0 0 1 5 2004-07-19 Q8IWL8 STH_HUMAN STH Saitohin 128 13.7 17 Cytoplasm; Nucleus 0 0 0 1 5 2004-07-19 Q8IWN7 RP1L1_HUMAN RP1L1 Retinitis pigmentosa 1-like 1 protein 2400 252.3 8 Cytoplasm; Cell projection 0 2 Occult macular dystrophy; Retinitis pigmentosa 88 0 1 5 2004-02-16 Q8IWU2 LMTK2_HUMAN LMTK2 Serine/threonine-protein kinase LMTK2 1503 164.9 7 2.7.11.1 Membrane 2 0 0 1 5 2006-10-31 Q8IWU6 SULF1_HUMAN SULF1 Extracellular sulfatase Sulf-1 871 101 8 Endoplasmic reticulum; Golgi apparatus; Cell surface 0 0 0 1 5 2003-07-19 Q8IWV1 LAX1_HUMAN LAX1 Lymphocyte transmembrane adapter 1 398 44.1 1 Cell membrane 1 0 0 1 5 2005-12-20 Q8IXM2 BAP18_HUMAN BACC1 BPTF-associated chromatin complex component 1 172 17.9 17 Nucleus 0 0 0 1 5 2006-12-12 Q8IXN7 RIMKA_HUMAN RIMKLA N-acetylaspartylglutamate synthase A 391 42.9 1 6.3.2.41 Cytoplasm 0 0 0 1 5 2007-04-03 Q8IXQ9 ETKMT_HUMAN ETFBKMT Electron transfer flavoprotein beta subunit lysine methyltransferase 262 29.5 12 2.1.1.- Cytoplasm; Mitochondrion matrix 0 0 0 1 5 2008-02-26 Q8IY18 SMC5_HUMAN SMC5 Structural maintenance of chromosomes protein 5 1101 128.8 9 Nucleus; Chromosome 0 1 Atelis syndrome 2 0 1 5 2007-01-09 Q8IY22 CMIP_HUMAN CMIP C-Maf-inducing protein 773 86.3 16 Nucleus; Cytoplasm 0 0 0 1 5 2008-02-05 Q8IY31 IFT20_HUMAN IFT20 Intraflagellar transport protein 20 homolog 132 15.3 17 Golgi apparatus; Cytoplasm; Cell projection; Cytoplasmic vesicle 0 0 0 1 5 2006-09-05 Q8IY50 S35F3_HUMAN SLC35F3 Solute carrier family 35 member F3 421 46.8 1 Membrane 10 0 0 1 5 2007-10-23 Q8IYF3 TEX11_HUMAN TEX11 Testis-expressed protein 11 940 107.9 X Chromosome 0 1 Spermatogenic failure, X-linked, 2 0 1 5 2007-07-24 Q8IYI0 SHLD1_HUMAN SHLD1 Shieldin complex subunit 1 205 22.9 20 Chromosome 0 0 0 1 5 2007-05-15 Q8IYR0 CF206_HUMAN CFAP206 Cilia- and flagella-associated protein 206 622 71.2 6 Cytoplasm 0 1 Spermatogenic failure 102 0 1 5 2003-08-29 Q8IYX3 CC116_HUMAN CCDC116 Coiled-coil domain-containing protein 116 613 67.9 22 Cytoplasm 0 0 0 1 5 2006-10-31 Q8IYY4 DZI1L_HUMAN DZIP1L Cilium assembly protein DZIP1L 767 86.8 3 Cytoplasm 0 1 Polycystic kidney disease 5 0 1 5 2008-04-29 Q8IZ08 GP135_HUMAN GPR135 G protein-coupled receptor 135 494 51.7 14 Cell membrane; Endosome membrane 7 0 0 1 5 2005-04-26 Q8IZ20 ZN683_HUMAN ZNF683 Tissue-resident T-cell transcription regulator protein ZNF683 524 56.9 1 Nucleus 0 0 0 1 5 2006-05-02 Q8IZ21 PHAR4_HUMAN PHACTR4 Phosphatase and actin regulator 4 702 78.2 1 Cytoplasm; Cell projection 0 0 0 1 5 2007-05-15 Q8IZC7 ZN101_HUMAN ZNF101 Zinc finger protein 101 436 50.3 19 Nucleus 0 0 0 1 5 2004-11-23 Q8IZL2 MAML2_HUMAN MAML2 Mastermind-like protein 2 1156 125.2 11 Nucleus speckle 0 0 0 1 5 2005-07-05 Q8IZL9 CDK20_HUMAN CDK20 Cyclin-dependent kinase 20 346 38.7 9 2.7.11.22 Nucleus; Cytoplasm; Cell projection 0 0 0 1 5 2005-12-20 Q8IZU0 FAM9B_HUMAN FAM9B Protein FAM9B 186 22.4 X Nucleus; Cytoplasm; Chromosome 0 0 0 1 5 2003-03-25 Q8N0W3 FCSK_HUMAN FCSK L-fucose kinase 1084 117.6 16 2.7.1.52 0 1 Congenital disorder of glycosylation with defective fucosylation 2 0 1 5 2002-11-28 Q8N100 ATOH7_HUMAN ATOH7 Transcription factor ATOH7 152 16.9 10 Nucleus; Perikaryon; Cell projection 0 1 Persistent hyperplastic primary vitreous, autosomal recessive 0 1 5 2007-06-26 Q8N137 CNTRB_HUMAN CNTROB Centrobin 903 101.3 17 Cytoplasm 0 0 0 1 5 2006-01-10 Q8N1C3 GBRG1_HUMAN GABRG1 Gamma-aminobutyric acid receptor subunit gamma-1 465 53.6 4 Postsynaptic cell membrane; Cell membrane 4 0 0 1 5 2003-01-17 Q8N1G0 ZN687_HUMAN ZNF687 Zinc finger protein 687 1237 129.5 1 Cytoplasm; Nucleus 0 1 Paget disease of bone 6 0 1 5 2006-05-02 Q8N1H7 S6OS1_HUMAN SIX6OS1 Protein SIX6OS1 587 68.2 14 Chromosome 0 2 Spermatogenic failure 52; Premature ovarian failure 18 0 1 5 2003-04-11 Q8N1K5 THMS1_HUMAN THEMIS Protein THEMIS 641 73.5 6 Cytoplasm; Nucleus 0 0 0 1 5 2006-10-17 Q8N1N4 K2C78_HUMAN KRT78 Keratin, type II cytoskeletal 78 520 56.9 12 0 0 0 1 5 2008-01-15 Q8N2F6 ARM10_HUMAN ARMC10 Armadillo repeat-containing protein 10 343 37.5 7 Endoplasmic reticulum membrane 1 0 0 1 5 2007-08-21 Q8N2H4 SYS1_HUMAN SYS1 Protein SYS1 homolog 156 17.6 20 Golgi apparatus membrane 4 0 0 1 5 2004-08-16 Q8N2M4 TM86A_HUMAN TMEM86A Lysoplasmalogenase TMEM86A 240 26.4 11 3.3.2.2 Endoplasmic reticulum membrane 8 0 0 1 5 2005-11-22 Q8N2N9 AN36B_HUMAN ANKRD36B Ankyrin repeat domain-containing protein 36B 1353 153.6 2 0 0 0 1 5 2006-06-27 Q8N2S1 LTBP4_HUMAN LTBP4 Latent-transforming growth factor beta-binding protein 4 1624 173.4 19 Secreted 0 2 Urban-Rifkin-Davis syndrome; Duchenne muscular dystrophy 0 1 5 2007-11-13 Q8N3G9 TM130_HUMAN TMEM130 Transmembrane protein 130 435 48.3 7 Golgi apparatus membrane 1 0 0 1 5 2007-02-20 Q8N3K9 CMYA5_HUMAN CMYA5 Cardiomyopathy-associated protein 5 4069 449.2 5 Nucleus; Sarcoplasmic reticulum; Cytoplasm 0 0 0 1 5 2008-04-08 Q8N427 NDK8_HUMAN NME8 Protein NME8 588 67.3 7 Cytoplasm 0 1 Ciliary dyskinesia, primary, 6 0 1 5 2005-07-05 Q8N490 PNKD_HUMAN PNKD Probable thioesterase PNKD 385 42.9 2 3.1.2.- Cell membrane; Mitochondrion 0 1 Paroxysmal non-kinesigenic dyskinesia 1 0 1 5 2007-09-11 Q8N4C7 STX19_HUMAN STX19 Syntaxin-19 294 34.3 3 Cell membrane; Cytoplasm 0 0 0 1 5 2006-12-12 Q8N4C8 MINK1_HUMAN MINK1 Misshapen-like kinase 1 1332 149.8 17 2.7.11.1 Cytoplasm; Postsynaptic density; Cell projection 0 0 0 1 5 2003-03-28 Q8N4M1 CTL3_HUMAN SLC44A3 Choline transporter-like protein 3 653 73.8 1 Membrane 8 0 0 1 5 2005-08-30 Q8N4Y2 EFC4A_HUMAN CRACR2B EF-hand calcium-binding domain-containing protein 4A 399 45 11 0 0 0 1 5 2007-04-03 Q8N511 VMA12_HUMAN VMA12 Vacuolar ATPase assembly protein VMA12 208 23.1 17 Cytoplasmic vesicle; Endoplasmic reticulum-Golgi intermediate compartment membrane; Endoplasmic reticulum membrane 2 1 Congenital disorder of glycosylation 2P 0 1 5 2004-08-31 Q8N568 DCLK2_HUMAN DCLK2 Serine/threonine-protein kinase DCLK2 766 83.6 4 2.7.11.1 Cytoplasm 0 0 0 1 5 2005-02-15 Q8N5G0 SIM20_HUMAN SMIM20 Small integral membrane protein 20 67 7.7 4 Mitochondrion inner membrane 1 0 0 1 5 2008-03-18 Q8N661 TM86B_HUMAN TMEM86B Lysoplasmalogenase TMEM86B 226 24.4 19 3.3.2.2 Endoplasmic reticulum membrane; Cytoplasm 8 0 0 1 5 2005-11-22 Q8N6K7 SAMD3_HUMAN SAMD3 Sterile alpha motif domain-containing protein 3 520 61.2 6 0 0 0 1 5 2007-03-06 Q8N7J2 AMER2_HUMAN AMER2 APC membrane recruitment protein 2 671 69.5 13 Cell membrane 0 0 0 1 5 2007-04-03 Q8N7U7 TPRX1_HUMAN TPRX1 Tetra-peptide repeat homeobox protein 1 411 40.6 19 Nucleus 0 0 0 1 5 2007-05-01 Q8N7W2 BEND7_HUMAN BEND7 BEN domain-containing protein 7 413 46.2 10 0 0 0 1 5 2006-06-27 Q8N8Q8 COX18_HUMAN COX18 Cytochrome c oxidase assembly protein COX18, mitochondrial 333 37.1 4 Mitochondrion inner membrane 3 2 Mitochondrial complex IV deficiency, nuclear type 25; Charcot-Marie-Tooth disease, axonal, type 2MM 0 1 5 2003-11-14 Q8N8R3 S2529_HUMAN SLC25A29 Mitochondrial basic amino acids transporter 303 32.1 14 Mitochondrion inner membrane 6 0 0 1 5 2003-05-30 Q8N8X9 MB213_HUMAN MAB21L3 Protein mab-21-like 3 362 42.4 1 0 0 0 1 5 2007-05-15 Q8N907 DAND5_HUMAN DAND5 DAN domain family member 5 189 20.2 19 Secreted 0 1 Heterotaxy, visceral, 13, autosomal 0 1 5 2007-12-04 Q8N999 RLIG1_HUMAN RLIG1 RNA ligase 1 325 37.5 12 6.5.1.3 0 0 0 1 5 2007-10-02 Q8N9F0 NAT8L_HUMAN NAT8L N-acetylaspartate synthetase 302 32.8 4 2.3.1.17 Cytoplasm; Microsome membrane; Mitochondrion membrane; Endoplasmic reticulum membrane 1 1 N-acetylaspartate deficiency 0 1 5 2007-10-02 Q8NA42 ZN383_HUMAN ZNF383 Zinc finger protein 383 475 54.6 19 Nucleus; Cytoplasm 0 0 0 1 5 2005-11-08 Q8NA58 PNDC1_HUMAN PNLDC1 Poly(A)-specific ribonuclease PNLDC1 520 60.1 6 3.1.13.4 Endoplasmic reticulum membrane 1 1 Spermatogenic failure 57 0 1 5 2007-11-13 Q8NA77 TEX19_HUMAN TEX19 Testis-expressed protein 19 164 18.5 17 Cytoplasm 0 0 0 1 5 2008-03-18 Q8NAP8 ZBT8B_HUMAN ZBTB8B Zinc finger and BTB domain-containing protein 8B 495 54.2 1 Nucleus 0 0 0 1 5 2004-04-26 Q8NB25 F184A_HUMAN FAM184A Protein FAM184A 1140 133 6 Cytoplasm 0 0 0 1 5 2003-05-16 Q8NBA8 DTWD2_HUMAN DTWD2 tRNA-uridine aminocarboxypropyltransferase 2 298 33.4 5 2.5.1.25 Cytoplasm 0 0 0 1 5 2007-01-09 Q8NBB4 ZSCA1_HUMAN ZSCAN1 Zinc finger and SCAN domain-containing protein 1 408 45.3 19 Nucleus 0 0 0 1 5 2004-11-23 Q8NBD8 T229B_HUMAN TMEM229B Transmembrane protein 229B 167 19.5 14 Membrane 4 0 0 1 5 2006-12-12 Q8NBF1 GLIS1_HUMAN GLIS1 Zinc finger protein GLIS1 620 66 1 Nucleus 0 0 0 1 5 2004-12-21 Q8NBI2 CYAC3_HUMAN CYB561A3 Lysosomal membrane ascorbate-dependent ferrireductase CYB561A3 242 27.2 11 7.2.1.3 Late endosome membrane; Lysosome membrane 6 0 0 1 5 2008-01-15 Q8NBI5 S43A3_HUMAN SLC43A3 Equilibrative nucleobase transporter 1 491 54.5 11 Basolateral cell membrane 12 0 0 1 5 2007-10-02 Q8NBT0 POC1A_HUMAN POC1A POC1 centriolar protein homolog A 407 45 3 Cytoplasm 0 1 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 0 1 5 2006-04-04 Q8NBV8 SYT8_HUMAN SYT8 Synaptotagmin-8 387 42.4 11 Cell membrane; Cytoplasmic vesicle 1 0 0 1 5 2003-11-28 Q8NC56 LEMD2_HUMAN LEMD2 LEM domain-containing protein 2 503 57 6 Nucleus inner membrane; Nucleus envelope; Cytoplasm 2 2 Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy; Marbach-Rustad progeroid syndrome 0 1 5 2007-05-01 Q8NCC5 SPX3_HUMAN SLC37A3 Sugar phosphate exchanger 3 494 54.5 7 Endoplasmic reticulum membrane; Lysosome membrane 12 0 0 1 5 2007-11-13 Q8NCE2 MTMRE_HUMAN MTMR14 Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 650 72.2 3 3.1.3.95 Cytoplasm 0 1 Myopathy, centronuclear, 1 0 1 5 2006-11-28 Q8NCG7 DGLB_HUMAN DAGLB Diacylglycerol lipase-beta 672 73.7 7 3.1.1.116 Cell membrane 4 0 0 1 5 2006-09-05 Q8NCR6 SMIP6_HUMAN SPMIP6 Sperm microtubule inner protein 6 262 30.2 9 Cytoplasm; Nucleus; Mitochondrion 0 0 0 1 5 2007-07-24 Q8NCT1 ARRD4_HUMAN ARRDC4 Arrestin domain-containing protein 4 418 45.5 15 Early endosome; Cell membrane; Cytoplasmic vesicle 0 0 0 1 5 2006-06-27 Q8NCW0 KREM2_HUMAN KREMEN2 Kremen protein 2 462 48.8 16 Membrane 1 0 0 1 5 2003-04-23 Q8NDB2 BANK1_HUMAN BANK1 B-cell scaffold protein with ankyrin repeats 785 89.3 4 0 1 Systemic lupus erythematosus 0 1 5 2006-10-03 Q8NDC4 MORN4_HUMAN MORN4 MORN repeat-containing protein 4 146 16.2 10 Cytoplasm; Cell projection 0 0 0 1 5 2007-03-06 Q8NDT2 RB15B_HUMAN RBM15B Putative RNA-binding protein 15B 890 97.2 3 Nucleus; Nucleus speckle; Nucleus envelope 0 0 0 1 5 2005-03-01 Q8NDX2 VGLU3_HUMAN SLC17A8 Vesicular glutamate transporter 3 589 65 12 Cytoplasmic vesicle; Cell membrane; Synapse 12 1 Deafness, autosomal dominant, 25 0 1 5 2008-04-29 Q8NEB5 PLPP5_HUMAN PLPP5 Phospholipid phosphatase 5 264 29.5 8 3.1.3.4, 3.6.1.75 Cell membrane 6 0 0 1 5 2007-05-15 Q8NEL9 DDHD1_HUMAN DDHD1 Phospholipase DDHD1 900 100.4 14 3.1.1.111, 3.1.1.32 Cytoplasm 0 1 Spastic paraplegia 28, autosomal recessive 0 1 5 2003-10-24 Q8NET6 CHSTD_HUMAN CHST13 Carbohydrate sulfotransferase 13 341 38.9 3 2.8.2.5 Golgi apparatus membrane 1 0 0 1 5 2005-03-15 Q8NF64 ZMIZ2_HUMAN ZMIZ2 Zinc finger MIZ domain-containing protein 2 920 96.5 7 Nucleus 0 0 0 1 5 2004-12-07 Q8NFJ5 RAI3_HUMAN GPRC5A Retinoic acid-induced protein 3 357 40.3 12 Cell membrane; Cytoplasmic vesicle membrane 7 0 0 1 5 2004-04-13 Q8NFM4 ADCY4_HUMAN ADCY4 Adenylate cyclase type 4 1077 119.8 14 4.6.1.1 Cell membrane; Cytoplasm 12 0 0 1 5 2002-11-08 Q8NFR3 SPTSB_HUMAN SPTSSB Serine palmitoyltransferase small subunit B 76 9.2 3 Endoplasmic reticulum membrane 2 0 0 1 5 2006-06-13 Q8NFR9 I17RE_HUMAN IL17RE Interleukin-17 receptor E 667 74.8 3 Cell membrane 1 0 0 1 5 2007-12-04 Q8NFW9 MYRIP_HUMAN MYRIP Rab effector MyRIP 859 95.7 3 Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 2003-07-25 Q8NFX7 STXB6_HUMAN STXBP6 Syntaxin-binding protein 6 210 23.6 14 Cytoplasm; Membrane 0 0 0 1 5 2003-08-22 Q8NFY4 SEM6D_HUMAN SEMA6D Semaphorin-6D 1073 119.9 15 Cell membrane 1 0 0 1 5 2005-12-20 Q8NG66 NEK11_HUMAN NEK11 Serine/threonine-protein kinase Nek11 645 74.2 3 2.7.11.1 Nucleus 0 0 0 1 5 2005-09-13 Q8NHE4 VA0E2_HUMAN ATP6V0E2 V-type proton ATPase subunit e 2 81 9.2 7 Membrane; Cytoplasmic vesicle 2 0 0 1 5 2007-01-09 Q8NHU3 SMS2_HUMAN SGMS2 Phosphatidylcholine:ceramide cholinephosphotransferase 2 365 42.3 4 2.7.8.27 Cell membrane; Golgi apparatus membrane 6 2 Calvarial doughnut lesions with bone fragility; Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia 0 1 5 2004-03-01 Q8NHW4 CC4L_HUMAN CCL4L1 C-C motif chemokine 4-like 92 10.2 17 Secreted 0 0 0 1 5 2008-03-18 Q8TAA5 GRPE2_HUMAN GRPEL2 GrpE protein homolog 2, mitochondrial 225 25.4 5 Mitochondrion matrix 0 0 0 1 5 2002-08-13 Q8TAC9 SCAM5_HUMAN SCAMP5 Secretory carrier-associated membrane protein 5 235 26.1 15 Cell membrane; Golgi apparatus membrane; Golgi apparatus; Recycling endosome membrane; Cytoplasmic vesicle 4 0 0 1 5 2004-05-10 Q8TAD4 ZNT5_HUMAN SLC30A5 Proton-coupled zinc antiporter SLC30A5 765 84 5 Golgi apparatus; Cytoplasmic vesicle; Lateral cell membrane; Cytoplasm 16 0 0 1 5 2008-01-15 Q8TAF8 LHPL5_HUMAN LHFPL5 LHFPL tetraspan subfamily member 5 protein 219 24.2 6 Cell membrane 4 1 Deafness, autosomal recessive, 67 0 1 5 2007-05-01 Q8TAK5 GABP2_HUMAN GABPB2 GA-binding protein subunit beta-2 448 48.7 1 Nucleus 0 0 0 1 5 2008-03-18 Q8TAM1 BBS10_HUMAN BBS10 BBSome complex assembly protein BBS10 723 80.8 12 Cell projection 0 1 Bardet-Biedl syndrome 10 0 1 5 2006-05-16 Q8TAP8 PPR35_HUMAN PPP1R35 Protein phosphatase 1 regulatory subunit 35 253 28 7 Cytoplasm 0 0 0 1 5 2007-01-09 Q8TAT2 FGFP3_HUMAN FGFBP3 Fibroblast growth factor-binding protein 3 258 27.6 10 Secreted 0 0 0 1 5 2006-06-27 Q8TAU3 ZN417_HUMAN ZNF417 Zinc finger protein 417 575 65.7 19 Nucleus 0 0 0 1 5 2006-05-02 Q8TB61 S35B2_HUMAN SLC35B2 Adenosine 3'-phospho 5'-phosphosulfate transporter 1 432 47.5 6 Golgi apparatus membrane 9 1 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia 0 1 5 2005-06-07 Q8TBE0 BAHD1_HUMAN BAHD1 Bromo adjacent homology domain-containing 1 protein 780 84.7 15 Nucleus; Chromosome 0 0 0 1 5 2007-05-29 Q8TBE3 FNDC9_HUMAN FNDC9 Fibronectin type III domain-containing protein 9 224 25.3 5 Membrane 1 0 0 1 5 2007-09-11 Q8TBZ2 MYBPP_HUMAN MYCBPAP MYCBP-associated protein 984 111.9 17 Membrane; Cytoplasm; Cell projection; Cytoplasmic vesicle 0 0 0 1 5 2007-09-11 Q8TC41 RN217_HUMAN RNF217 E3 ubiquitin-protein ligase RNF217 542 59.4 6 2.3.2.31 Membrane; Cytoplasm 1 0 0 1 5 2005-01-04 Q8TCT6 SPPL3_HUMAN SPPL3 Signal peptide peptidase-like 3 384 42.3 12 3.4.23.- Endoplasmic reticulum membrane; Golgi apparatus; Membrane 9 0 0 1 5 2002-11-08 Q8TCT9 SPP_HUMAN HM13 Signal peptide peptidase 377 41.5 20 3.4.23.- Endoplasmic reticulum membrane; Membrane 9 0 0 1 5 2002-11-08 Q8TD10 MIPO1_HUMAN MIPOL1 Mirror-image polydactyly gene 1 protein 442 51.5 14 0 0 0 1 5 2004-03-01 Q8TD17 ZN398_HUMAN ZNF398 Zinc finger protein 398 642 71.3 7 Nucleus 0 0 0 1 5 2002-09-19 Q8TD91 MAGC3_HUMAN MAGEC3 Melanoma-associated antigen C3 643 71.9 X 0 0 0 1 5 2004-01-16 Q8TDC0 MYOZ3_HUMAN MYOZ3 Myozenin-3 251 27.2 5 Cytoplasm 0 0 0 1 5 2005-11-22 Q8TDG4 HELQ_HUMAN HELQ Helicase POLQ-like 1101 124.1 4 5.6.2.4 Nucleus; Chromosome 0 0 0 1 5 2008-04-08 Q8TDH9 BL1S5_HUMAN BLOC1S5 Biogenesis of lysosome-related organelles complex 1 subunit 5 187 21.6 6 0 1 Hermansky-Pudlak syndrome 11 0 1 5 2003-09-09 Q8TDJ6 DMXL2_HUMAN DMXL2 DmX-like protein 2 3036 339.6 15 Cytoplasmic vesicle 0 3 Polyendocrine-polyneuropathy syndrome; Deafness, autosomal dominant, 71; Developmental and epileptic encephalopathy 81 0 1 5 2006-03-07 Q8TDN1 KCNG4_HUMAN KCNG4 Voltage-gated potassium channel regulatory subunit KCNG4 519 59 16 Cell membrane 6 0 0 1 5 2002-11-28 Q8TDN7 ACER1_HUMAN ACER1 Alkaline ceramidase 1 264 31.1 19 3.5.1.-, 3.5.1.23 Endoplasmic reticulum membrane 7 0 0 1 5 2006-07-25 Q8TDQ7 GNPI2_HUMAN GNPDA2 Glucosamine-6-phosphate deaminase 2 276 31.1 4 3.5.99.6 Cytoplasm 0 0 0 1 5 2008-07-01 Q8TE59 ATS19_HUMAN ADAMTS19 A disintegrin and metalloproteinase with thrombospondin motifs 19 1213 134.8 5 3.4.24.- Secreted 0 1 Cardiac valvular dysplasia 2 0 1 5 2003-03-25 Q8TE77 SSH3_HUMAN SSH3 Protein phosphatase Slingshot homolog 3 659 73 11 3.1.3.16, 3.1.3.48 Cytoplasm; Nucleus 0 0 0 1 5 2005-11-22 Q8TEJ3 SH3R3_HUMAN SH3RF3 E3 ubiquitin-protein ligase SH3RF3 882 92.8 2 2.3.2.27 0 0 0 1 5 2007-05-01 Q8TEQ8 PIGO_HUMAN PIGO GPI ethanolamine phosphate transferase 3, catalytic subunit 1089 118.7 9 2.-.-.- Endoplasmic reticulum membrane 14 1 Hyperphosphatasia with impaired intellectual development syndrome 2 0 1 5 2002-08-13 Q8TEW8 PAR3L_HUMAN PARD3B Partitioning defective 3 homolog B 1205 132.5 2 Endomembrane system; Cell junction 0 0 0 1 5 2003-05-16 Q8TF66 LRC15_HUMAN LRRC15 Leucine-rich repeat-containing protein 15 581 64.4 3 Cell membrane 1 0 0 1 5 2003-05-09 Q8TF74 WIPF2_HUMAN WIPF2 WAS/WASL-interacting protein family member 2 440 46.3 17 Cytoplasm 0 0 0 1 5 2005-03-01 Q8WTS1 ABHD5_HUMAN ABHD5 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 349 39.1 3 2.3.1.51 Cytoplasm; Lipid droplet 0 1 Chanarin-Dorfman syndrome 0 1 5 2005-08-30 Q8WTV0 SCRB1_HUMAN SCARB1 Scavenger receptor class B member 1 552 60.9 12 Cell membrane; Membrane 2 0 0 1 5 2003-10-10 Q8WTV1 THAP3_HUMAN THAP3 THAP domain-containing protein 3 239 27.1 1 0 0 0 1 5 2003-04-11 Q8WU90 ZC3HF_HUMAN ZC3H15 Zinc finger CCCH domain-containing protein 15 426 48.6 2 Cytoplasm; Nucleus 0 0 0 1 5 2008-03-18 Q8WUA8 TSK_HUMAN TSKU Tsukushi 353 37.8 11 Secreted 0 0 0 1 5 2006-06-27 Q8WUE5 CT55_HUMAN CT55 Cancer/testis antigen 55 264 29.1 X Cytoplasm; Cytoplasmic vesicle; Cell projection 0 1 Spermatogenic failure, X-linked, 7 0 1 5 2005-07-05 Q8WUF8 ARB2A_HUMAN ARB2A Cotranscriptional regulator ARB2A 416 48 5 Nucleus; Cytoplasm; Endoplasmic reticulum 0 0 0 1 5 2008-02-26 Q8WUK0 PTPM1_HUMAN PTPMT1 Phosphatidylglycerophosphatase and protein-tyrosine phosphatase 1 201 22.8 11 3.1.3.27 Mitochondrion inner membrane 0 1 Neurodevelopmental disorder with ataxia and brain abnormalities 0 1 5 2005-08-16 Q8WUX1 S38A5_HUMAN SLC38A5 Sodium-coupled neutral amino acid transporter 5 472 51.5 X Cell membrane 11 0 0 1 5 2007-12-04 Q8WV74 NUDT8_HUMAN NUDT8 Mitochondrial coenzyme A diphosphatase NUDT8 236 25.4 11 3.6.1.-, 3.6.1.77 Mitochondrion 0 0 0 1 5 2005-07-05 Q8WV93 AFG1L_HUMAN AFG1L AFG1-like ATPase 481 54.8 6 Mitochondrion membrane 0 0 0 1 5 2007-03-06 Q8WVB3 HEXD_HUMAN HEXD Hexosaminidase D 486 53.8 17 3.2.1.52 Cytoplasm; Nucleus; Extracellular vesicle 0 0 0 1 5 2008-02-05 Q8WVD3 RN138_HUMAN RNF138 E3 ubiquitin-protein ligase RNF138 245 28.2 18 2.3.2.27 Chromosome 0 0 0 1 5 2006-11-28 Q8WVJ2 NUDC2_HUMAN NUDCD2 NudC domain-containing protein 2 157 17.7 5 Chromosome; Cytoplasm 0 0 0 1 5 2005-06-07 Q8WVX3 SRALN_HUMAN ARLN Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator ARLN 66 7.6 4 Endoplasmic reticulum membrane 1 0 0 1 5 2008-03-18 Q8WVX9 FACR1_HUMAN FAR1 Fatty acyl-CoA reductase 1 515 59.4 11 1.2.1.84 Peroxisome membrane 1 2 Peroxisomal fatty acyl-CoA reductase 1 disorder; Cataracts, spastic paraparesis, and speech delay 0 1 5 2006-11-28 Q8WWC4 MAIP1_HUMAN MAIP1 m-AAA protease-interacting protein 1, mitochondrial 291 32.5 2 Mitochondrion matrix 0 0 0 1 5 2007-09-11 Q8WWL7 CCNB3_HUMAN CCNB3 G2/mitotic-specific cyclin-B3 1395 157.9 X Nucleus 0 0 0 1 5 2004-06-07 Q8WWW8 GAB3_HUMAN GAB3 GRB2-associated-binding protein 3 586 65.6 X 0 0 0 1 5 2008-02-26 Q8WWY6 MB3L1_HUMAN MBD3L1 Methyl-CpG-binding domain protein 3-like 1 194 21.6 19 Nucleus 0 0 0 1 5 2004-07-19 Q8WWY8 LIPH_HUMAN LIPH Lipase member H 451 50.9 3 3.1.1.- Secreted; Cell membrane 0 2 Hypotrichosis 7; Woolly hair autosomal recessive 2 0 1 5 2007-01-23 Q8WXF8 DEDD2_HUMAN DEDD2 DNA-binding death effector domain-containing protein 2 326 36.2 19 Nucleus 0 0 0 1 5 2004-05-10 Q8WXG1 RSAD2_HUMAN RSAD2 S-adenosylmethionine-dependent nucleotide dehydratase RSAD2 361 42.2 2 4.2.-.- Endoplasmic reticulum membrane; Golgi apparatus; Endoplasmic reticulum; Lipid droplet; Mitochondrion; Mitochondrion inner membrane; Mitochondrion outer membrane 0 0 0 1 5 2007-11-13 Q8WXI3 ASB10_HUMAN ASB10 Ankyrin repeat and SOCS box protein 10 467 50.9 7 Cytoplasm; Nucleus 0 1 Glaucoma 1, open angle, F 0 1 5 2002-05-10 Q8WXX7 AUTS2_HUMAN AUTS2 Autism susceptibility gene 2 protein 1259 139 7 Nucleus; Cytoplasm; Cell projection 0 1 Intellectual developmental disorder, autosomal dominant 26 0 1 5 2002-09-19 Q8WY54 PPM1E_HUMAN PPM1E Protein phosphatase 1E 755 84 17 3.1.3.16 Nucleus; Cytoplasm 0 0 0 1 5 2007-05-15 Q8WYK2 JDP2_HUMAN JDP2 Jun dimerization protein 2 163 18.7 14 Nucleus 0 0 0 1 5 2008-04-29 Q92478 CLC2B_HUMAN CLEC2B C-type lectin domain family 2 member B 149 17.3 12 Cell membrane; Golgi apparatus membrane 1 0 0 1 5 2002-01-31 Q92496 FHR4_HUMAN CFHR4 Complement factor H-related protein 4 578 65.4 1 Secreted 0 0 0 1 5 2001-02-21 Q92503 S14L1_HUMAN SEC14L1 SEC14-like protein 1 715 81.3 17 Cytoplasm; Golgi apparatus 0 0 0 1 5 1997-11-01 Q92521 PIGB_HUMAN PIGB GPI alpha-1,2-mannosyltransferase 3 554 65.1 15 2.4.1.- Endoplasmic reticulum membrane 9 1 Developmental and epileptic encephalopathy 80 0 1 5 2006-07-25 Q92546 RGP1_HUMAN RGP1 RAB6A-GEF complex partner protein 2 391 42.5 9 Cytoplasm; Membrane 0 0 0 1 5 1997-11-01 Q92613 JADE3_HUMAN JADE3 Protein Jade-3 823 93.8 X 0 0 0 1 5 2003-08-15 Q92616 GCN1_HUMAN GCN1 Stalled ribosome sensor GCN1 2671 292.7 12 Cytoplasm 0 0 0 1 5 2005-03-01 Q92618 ZN516_HUMAN ZNF516 Zinc finger protein 516 1163 124.3 18 Nucleus 0 0 0 1 5 2001-06-20 Q92626 PXDN_HUMAN PXDN Peroxidasin homolog 1479 165.3 2 1.11.2.- Secreted; Endoplasmic reticulum; Cell surface 0 1 Anterior segment dysgenesis 7 0 1 5 2008-02-26 Q92696 PGTA_HUMAN RABGGTA Geranylgeranyl transferase type-2 subunit alpha 567 65.1 14 2.5.1.60 0 0 0 1 5 1997-11-01 Q92748 THRSP_HUMAN THRSP Thyroid hormone-inducible hepatic protein 146 16.6 11 Nucleus; Cytoplasm 0 0 0 1 5 1997-11-01 Q92754 AP2C_HUMAN TFAP2C Transcription factor AP-2 gamma 450 49.2 20 Nucleus 0 0 0 1 5 2001-01-24 Q92781 RDH5_HUMAN RDH5 Retinol dehydrogenase 5 318 35 12 1.1.1.209, 1.1.1.315, 1.1.1.53 Endoplasmic reticulum membrane 2 1 Fundus albipunctatus 0 1 5 1997-11-01 Q92802 N42L2_HUMAN N4BP2L2 NEDD4-binding protein 2-like 2 583 67.5 13 0 0 0 1 5 2007-09-11 Q92858 ATOH1_HUMAN ATOH1 Transcription factor ATOH1 354 38.2 4 Nucleus 0 1 Deafness, autosomal dominant, 89 0 1 5 1998-12-15 Q92896 GSLG1_HUMAN GLG1 Golgi apparatus protein 1 1179 134.6 16 Golgi apparatus membrane; Golgi outpost; Cytoplasm 1 0 0 1 5 2001-09-26 Q93052 LPP_HUMAN LPP Lipoma-preferred partner 612 65.7 3 Nucleus; Cytoplasm; Cell junction; Cell membrane 0 0 0 1 5 2005-11-22 Q93097 WNT2B_HUMAN WNT2B Protein Wnt-2b 391 43.8 1 Secreted 0 1 Diarrhea 9 0 1 5 1997-11-01 Q969G5 CAVN3_HUMAN CAVIN3 Caveolae-associated protein 3 261 27.7 11 Cytoplasm; Membrane 0 0 0 1 5 2008-04-29 Q969K4 ABTB1_HUMAN ABTB1 Ankyrin repeat and BTB/POZ domain-containing protein 1 478 54 3 Cytoplasm 0 0 0 1 5 2006-09-05 Q969S8 HDA10_HUMAN HDAC10 Polyamine deacetylase HDAC10 669 71.4 22 3.5.1.48, 3.5.1.62 Cytoplasm; Nucleus 0 0 0 1 5 2003-01-10 Q96A11 G3ST3_HUMAN GAL3ST3 Galactose-3-O-sulfotransferase 3 431 49 11 2.8.2.- Golgi apparatus 1 0 0 1 5 2004-05-10 Q96A26 F162A_HUMAN FAM162A Protein FAM162A 154 17.3 3 Mitochondrion membrane 1 0 0 1 5 2006-10-31 Q96AA8 JKIP2_HUMAN JAKMIP2 Janus kinase and microtubule-interacting protein 2 810 94.9 5 Golgi apparatus 0 0 0 1 5 2002-01-23 Q96AD5 PLPL2_HUMAN PNPLA2 Patatin-like phospholipase domain-containing protein 2 504 55.3 11 3.1.1.3 Lipid droplet; Cell membrane; Cytoplasm 4 1 Neutral lipid storage disease with myopathy 0 1 5 2007-06-26 Q96AE7 TTC17_HUMAN TTC17 Tetratricopeptide repeat protein 17 1141 129.6 11 Cytoplasm; Cell membrane 0 0 0 1 5 2004-09-27 Q96AX2 RAB37_HUMAN RAB37 Ras-related protein Rab-37 223 24.8 17 3.6.5.2 Cytoplasmic vesicle; Cell projection 0 0 0 1 5 2002-01-31 Q96AY4 TTC28_HUMAN TTC28 Tetratricopeptide repeat protein 28 2481 270.9 22 Cytoplasm; Midbody 0 0 0 1 5 2002-11-28 Q96BJ3 AIDA_HUMAN AIDA Axin interactor, dorsalization-associated protein 306 35 1 0 0 0 1 5 2007-10-02 Q96BR6 ZN669_HUMAN ZNF669 Zinc finger protein 669 464 52.6 1 Nucleus 0 0 0 1 5 2006-05-02 Q96BW1 UPP_HUMAN UPRT Uracil phosphoribosyltransferase homolog 309 33.8 X Cytoplasm; Nucleus 0 0 0 1 5 2006-10-31 Q96C11 FGGY_HUMAN FGGY FGGY carbohydrate kinase domain-containing protein 551 60 1 0 1 Amyotrophic lateral sclerosis 0 1 5 2008-03-18 Q96C12 ARMC5_HUMAN ARMC5 Armadillo repeat-containing protein 5 935 97.7 16 Nucleus; Chromosome; Cytoplasm 0 1 ACTH-independent macronodular adrenal hyperplasia 2 0 1 5 2007-04-17 Q96CB8 INT12_HUMAN INTS12 Integrator complex subunit 12 462 48.8 4 Nucleus 0 0 0 1 5 2005-08-16 Q96CE8 T4S18_HUMAN TM4SF18 Transmembrane 4 L6 family member 18 201 22.3 3 Membrane 4 0 0 1 5 2005-06-21 Q96CK0 ZN653_HUMAN ZNF653 Zinc finger protein 653 615 67.2 19 Nucleus 0 0 0 1 5 2006-10-17 Q96D09 GASP2_HUMAN GPRASP2 G protein-coupled receptor-associated sorting protein 2 838 93.8 X 0 1 Deafness, X-linked, 7 0 1 5 2006-05-30 Q96DA6 TIM14_HUMAN DNAJC19 Mitochondrial import inner membrane translocase subunit TIM14 116 12.5 3 Mitochondrion inner membrane 1 1 3-methylglutaconic aciduria 5 0 1 5 2005-12-06 Q96DR8 MUCL1_HUMAN MUCL1 Mucin-like protein 1 90 9 12 Secreted; Membrane 0 0 0 1 5 2006-03-21 Q96DT6 ATG4C_HUMAN ATG4C Cysteine protease ATG4C 458 52.5 1 3.4.22.- Cytoplasm 0 0 0 1 5 2005-03-15 Q96E52 OMA1_HUMAN OMA1 Metalloendopeptidase OMA1, mitochondrial 524 60.1 1 3.4.24.- Mitochondrion inner membrane 1 0 0 1 5 2007-09-11 Q96EB1 ELP4_HUMAN ELP4 Elongator complex protein 4 424 46.6 11 Cytoplasm; Nucleus 0 1 Aniridia 2 0 1 5 2007-04-17 Q96EC8 YIPF6_HUMAN YIPF6 Protein YIPF6 236 26.3 X Golgi apparatus membrane 5 0 0 1 5 2006-06-27 Q96ED9 HOOK2_HUMAN HOOK2 Protein Hook homolog 2 719 83.2 19 Cytoplasm; Golgi apparatus 0 0 0 1 5 2004-02-02 Q96EU6 RRP36_HUMAN RRP36 Ribosomal RNA processing protein 36 homolog 259 29.8 6 Nucleus 0 0 0 1 5 2006-10-03 Q96EV2 RBM33_HUMAN RBM33 RNA-binding protein 33 1170 130 7 Nucleus; Cytoplasm 0 0 0 1 5 2007-05-01 Q96FH0 BORC8_HUMAN BORCS8 BLOC-1-related complex subunit 8 119 13.4 19 Lysosome membrane 0 1 Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 0 1 5 2007-01-09 Q96FX8 PERP_HUMAN PERP p53 apoptosis effector related to PMP-22 193 21.4 6 Cell junction; Cell membrane; Cytoplasm 4 2 Erythrokeratodermia variabilis et progressiva 7; Olmsted syndrome 2 0 1 5 2006-03-07 Q96G79 S35A4_HUMAN SLC35A4 Probable UDP-sugar transporter protein SLC35A4 324 34.6 5 Golgi apparatus membrane 8 0 0 1 5 2008-05-20 Q96GC6 ZN274_HUMAN ZNF274 Neurotrophin receptor-interacting factor homolog 653 74.2 19 Cytoplasm; Nucleus 0 0 0 1 5 2002-05-10 Q96GE4 CEP95_HUMAN CEP95 Centrosomal protein of 95 kDa 821 95.3 17 Cytoplasm 0 0 0 1 5 2006-05-16 Q96GE6 CALL4_HUMAN CALML4 Calmodulin-like protein 4 196 21.9 15 Cell projection 0 0 0 1 5 2008-01-15 Q96GF1 RN185_HUMAN RNF185 E3 ubiquitin-protein ligase RNF185 192 20.5 22 2.3.2.27 Mitochondrion outer membrane; Endoplasmic reticulum membrane 2 0 0 1 5 2006-07-25 Q96GP6 SREC2_HUMAN SCARF2 Scavenger receptor class F member 2 871 92.4 22 Membrane 1 1 Van den Ende-Gupta syndrome 0 1 5 2003-01-17 Q96H55 MYO19_HUMAN MYO19 Unconventional myosin-XIX 970 109.1 17 Mitochondrion outer membrane; Cytoplasm 0 0 0 1 5 2008-05-20 Q96HD1 CREL1_HUMAN CRELD1 Protein disulfide isomerase CRELD1 420 45.4 3 5.3.4.1 Membrane 2 2 Atrioventricular septal defect 2; Jeffries-Lakhani neurodevelopmental syndrome 0 1 5 2005-11-08 Q96HH6 TMM19_HUMAN TMEM19 Transmembrane protein 19 336 36.4 12 Membrane 6 0 0 1 5 2007-04-17 Q96HH9 GRM2B_HUMAN GRAMD2B GRAM domain-containing protein 2B 432 47.9 5 0 0 0 1 5 2005-12-06 Q96HP8 T176A_HUMAN TMEM176A Transmembrane protein 176A 235 26.1 7 Membrane 4 0 0 1 5 2007-03-06 Q96HR9 REEP6_HUMAN REEP6 Receptor expression-enhancing protein 6 211 23.4 19 Endoplasmic reticulum membrane; Cytoplasmic vesicle 2 1 Retinitis pigmentosa 77 0 1 5 2005-12-20 Q96HU1 SGSM3_HUMAN SGSM3 Small G protein signaling modulator 3 749 85.4 22 Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 84 0 1 5 2007-10-23 Q96I34 PP16A_HUMAN PPP1R16A Protein phosphatase 1 regulatory subunit 16A 528 57.8 8 Cell membrane 0 0 0 1 5 2002-08-13 Q96I36 COX14_HUMAN COX14 Cytochrome c oxidase assembly protein COX14 57 6.6 12 Mitochondrion outer membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 10 0 1 5 2006-12-12 Q96IK5 GMCL1_HUMAN GMCL1 Germ cell-less protein-like 1 515 58.7 2 Nucleus matrix 0 0 0 1 5 2004-05-24 Q96IX5 ATPMK_HUMAN ATP5MK ATP synthase F(0) complex subunit k, mitochondrial 58 6.5 10 Mitochondrion membrane 1 1 Mitochondrial complex V deficiency, nuclear type 6 0 1 5 2006-04-04 Q96J42 TXD15_HUMAN TXNDC15 Thioredoxin domain-containing protein 15 360 39.9 5 Cell projection 1 1 Meckel syndrome 14 0 1 5 2007-07-24 Q96J66 MRP8_HUMAN ABCC11 ATP-binding cassette sub-family C member 11 1382 154.3 16 7.6.2.2, 7.6.2.3 Cell membrane; Vacuole membrane; Cytoplasmic vesicle membrane; Apical cell membrane 12 0 0 1 5 2006-03-07 Q96JD6 AKCL2_HUMAN AKR1E2 1,5-anhydro-D-fructose reductase 320 36.6 10 1.1.1.263 Cytoplasm 0 0 0 1 5 2007-05-15 Q96JE9 MAP6_HUMAN MAP6 Microtubule-associated protein 6 813 86.5 11 Cytoplasm; Golgi apparatus; Cell projection; Cytoplasmic vesicle 0 0 0 1 5 2008-07-22 Q96JN2 CC136_HUMAN CCDC136 Coiled-coil domain-containing protein 136 1154 134 7 Cytoplasmic vesicle 1 0 0 1 5 2007-09-11 Q96JP9 CDHR1_HUMAN CDHR1 Cadherin-related family member 1 859 93.6 10 Cell membrane 1 1 Cone-rod dystrophy 15 0 1 5 2008-02-05 Q96JQ5 M4A4A_HUMAN MS4A4A Membrane-spanning 4-domains subfamily A member 4A 239 25.4 11 Membrane 4 0 0 1 5 2003-05-09 Q96K19 RN170_HUMAN RNF170 E3 ubiquitin-protein ligase RNF170 258 29.8 8 2.3.2.27 Endoplasmic reticulum membrane 3 2 Ataxia, sensory, 1, autosomal dominant; Spastic paraplegia 85, autosomal recessive 0 1 5 2007-03-20 Q96KN4 LRAT1_HUMAN LRATD1 Protein LRATD1 292 32.5 2 Cytoplasm 0 0 0 1 5 2006-05-16 Q96L08 SUSD3_HUMAN SUSD3 Sushi domain-containing protein 3 255 27.1 9 Cell membrane 1 0 0 1 5 2006-10-03 Q96L96 ALPK3_HUMAN ALPK3 Alpha-protein kinase 3 1705 180.7 15 2.7.11.1 Nucleus 0 1 Cardiomyopathy, familial hypertrophic, 27 0 1 5 2006-11-28 Q96LD1 SGCZ_HUMAN SGCZ Zeta-sarcoglycan 299 32.9 8 Cell membrane; Cytoplasm 1 0 0 1 5 2004-01-16 Q96LL4 CH048_HUMAN C8orf48 Uncharacterized protein C8orf48 319 36.8 8 0 0 0 1 5 2007-05-01 Q96LM6 SMIP9_HUMAN SPMIP9 Protein SPMIP9 180 20.6 2 Nucleus; Cytoplasm 0 0 0 1 5 2007-10-02 Q96LZ3 CANB2_HUMAN PPP3R2 Calcineurin subunit B type 2 170 19.5 9 Mitochondrion 0 0 0 1 5 2004-09-13 Q96LZ7 RMD2_HUMAN RMDN2 Regulator of microtubule dynamics protein 2 410 47.4 2 Membrane; Cytoplasm 1 0 0 1 5 2007-05-15 Q96M29 TEKT5_HUMAN TEKT5 Tektin-5 485 56.3 16 Cytoplasm 0 0 0 1 5 2006-11-28 Q96M32 KAD7_HUMAN AK7 Adenylate kinase 7 723 82.7 14 2.7.4.3, 2.7.4.6 Cytoplasm; Cell projection 0 1 Spermatogenic failure 27 0 1 5 2003-10-03 Q96MH6 DIESL_HUMAN TMEM68 DGAT1/2-independent enzyme synthesizing storage lipids 324 37.4 8 2.3.1.- Endoplasmic reticulum membrane 2 0 0 1 5 2006-10-31 Q96MX0 CKLF3_HUMAN CMTM3 CKLF-like MARVEL transmembrane domain-containing protein 3 182 19.7 16 Membrane 3 0 0 1 5 2003-09-19 Q96N87 S6A18_HUMAN SLC6A18 Inactive sodium-dependent neutral amino acid transporter B(0)AT3 628 70.9 5 Membrane 12 0 0 2 5 2004-06-07 Q96NB2 SFXN2_HUMAN SFXN2 Sideroflexin-2 322 36.2 10 Mitochondrion inner membrane; Mitochondrion outer membrane 5 0 0 1 5 2002-03-27 Q96NZ9 PRAP1_HUMAN PRAP1 Proline-rich acidic protein 1 151 17.2 10 Secreted; Endoplasmic reticulum 0 0 0 1 5 2007-09-11 Q96P26 5NT1B_HUMAN NT5C1B Cytosolic 5'-nucleotidase 1B 610 68.8 2 3.1.3.5 Cytoplasm 0 0 0 1 5 2004-05-10 Q96P31 FCRL3_HUMAN FCRL3 Fc receptor-like protein 3 734 80.9 1 Cell membrane; Cell projection 1 1 Rheumatoid arthritis 0 1 5 2008-04-29 Q96PE3 INP4A_HUMAN INPP4A Inositol polyphosphate-4-phosphatase type I A 977 110 2 Early endosome membrane; Recycling endosome membrane; Cell membrane; Nucleus; Cytoplasm; Postsynaptic density 0 1 Neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech 0 1 5 2005-08-30 Q96PF2 TSSK2_HUMAN TSSK2 Testis-specific serine/threonine-protein kinase 2 358 40.9 22 2.7.11.1 Cytoplasm 0 0 0 1 5 2003-04-30 Q96PL5 ERMAP_HUMAN ERMAP Erythroid membrane-associated protein 475 52.6 1 Cell membrane; Cytoplasm 1 0 0 1 5 2006-03-07 Q96PQ1 SIG12_HUMAN SIGLEC12 Sialic acid-binding Ig-like lectin 12 595 65 19 Membrane 1 0 0 1 5 2002-11-08 Q96PR1 KCNC2_HUMAN KCNC2 Voltage-gated potassium channel KCNC2 638 70.2 12 Cell membrane; Membrane; Perikaryon; Cell projection; Postsynaptic cell membrane; Presynaptic cell membrane; Synapse; Apical cell membrane; Basolateral cell membrane 6 1 Developmental and epileptic encephalopathy 103 0 1 5 2007-11-13 Q96Q27 ASB2_HUMAN ASB2 Ankyrin repeat and SOCS box protein 2 635 70.2 14 Cytoplasm 0 0 0 1 5 2002-05-10 Q96QD8 S38A2_HUMAN SLC38A2 Sodium-coupled neutral amino acid symporter 2 506 56 12 Cell membrane 11 0 0 1 5 2007-12-04 Q96QD9 UIF_HUMAN FYTTD1 UAP56-interacting factor 318 35.8 3 Nucleus; Nucleus speckle 0 0 0 1 5 2007-05-15 Q96QF7 GCNA_HUMAN GCNA Germ cell nuclear acidic protein 691 76.1 X Nucleus; Chromosome 0 1 Spermatogenic failure, X-linked, 4 0 1 5 2008-02-05 Q96QI5 HS3S6_HUMAN HS3ST6 Heparan sulfate glucosamine 3-O-sulfotransferase 6 342 37.2 16 2.8.2.23 Golgi apparatus membrane 1 1 Angioedema, hereditary, 8 0 1 5 2005-03-15 Q96RE9 ZN300_HUMAN ZNF300 Zinc finger protein 300 604 68.7 5 Nucleus 0 0 0 1 5 2002-01-23 Q96RN1 S26A8_HUMAN SLC26A8 Testis anion transporter 1 970 109 6 Membrane 12 1 Spermatogenic failure 3 0 1 5 2008-02-26 Q96RP7 G3ST4_HUMAN GAL3ST4 Galactose-3-O-sulfotransferase 4 486 54.2 7 2.8.2.- Golgi apparatus 1 0 0 1 5 2004-05-10 Q96RQ9 OXLA_HUMAN IL4I1 L-amino-acid oxidase 567 62.9 19 1.4.3.2, 1.4.3.25 Secreted; Lysosome; Cytoplasmic vesicle 0 0 0 1 5 2002-03-27 Q96RS6 NUDC1_HUMAN NUDCD1 NudC domain-containing protein 1 583 66.8 8 Cytoplasm; Nucleus 0 0 0 1 5 2007-10-23 Q96S66 CLCC1_HUMAN CLCC1 Chloride channel CLIC-like protein 1 551 62 1 Endoplasmic reticulum membrane 3 1 Retinitis pigmentosa 32 0 1 5 2007-08-21 Q96S94 CCNL2_HUMAN CCNL2 Cyclin-L2 520 58.1 1 Nucleus speckle; Nucleus 0 0 0 1 5 2005-11-08 Q96SL1 DIRC2_HUMAN SLC49A4 Solute carrier family 49 member 4 478 52.1 3 Lysosome membrane 12 0 0 1 5 2007-01-09 Q96SQ5 ZN587_HUMAN ZNF587 Zinc finger protein 587 575 65.6 19 Nucleus 0 0 0 1 5 2006-05-02 Q96ST3 SIN3A_HUMAN SIN3A Paired amphipathic helix protein Sin3a 1273 145.2 15 Nucleus 0 1 Witteveen-Kolk syndrome 0 1 5 2003-10-24 Q96ST8 CEP89_HUMAN CEP89 Centrosomal protein of 89 kDa 783 89.6 19 Cytoplasm; Mitochondrion intermembrane space 0 0 0 1 5 2007-05-29 Q96T23 RSF1_HUMAN RSF1 Remodeling and spacing factor 1 1441 163.8 11 Nucleus 0 0 0 1 5 2005-01-04 Q96T55 KCNKG_HUMAN KCNK16 Potassium channel subfamily K member 16 309 34.2 6 Endoplasmic reticulum membrane; Cell membrane 4 0 0 1 5 2002-11-01 Q96T83 SL9A7_HUMAN SLC9A7 Sodium/hydrogen exchanger 7 725 80.1 X Golgi apparatus; Recycling endosome membrane; Cell membrane 14 1 Intellectual developmental disorder, X-linked 108 0 1 5 2004-03-01 Q99424 ACOX2_HUMAN ACOX2 Peroxisomal acyl-coenzyme A oxidase 2 681 76.8 3 1.3.3.6 Peroxisome 0 1 Congenital bile acid synthesis defect 6 0 1 5 2001-11-02 Q99426 TBCB_HUMAN TBCB Tubulin-folding cofactor B 244 27.3 19 Cytoplasm 0 1 Neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia 0 1 5 1998-07-15 Q99456 K1C12_HUMAN KRT12 Keratin, type I cytoskeletal 12 494 53.5 17 0 1 Corneal dystrophy, Meesmann 1 0 1 5 1997-11-01 Q99501 GA2L1_HUMAN GAS2L1 GAS2-like protein 1 681 72.7 22 Cytoplasm 0 0 0 1 5 1998-07-15 Q99502 EYA1_HUMAN EYA1 Protein phosphatase EYA1 592 64.6 8 3.1.3.16, 3.1.3.48 Cytoplasm; Nucleus 0 4 Branchiootorenal syndrome 1; Otofaciocervical syndrome 1; Branchiootic syndrome 1; Anterior segment anomalies with or without cataract 0 1 5 1998-07-15 Q99590 SCAFB_HUMAN SCAF11 Protein SCAF11 1463 164.7 12 Nucleus 0 0 0 1 5 2006-02-07 Q99684 GFI1_HUMAN GFI1 Zinc finger protein Gfi-1 422 45.3 1 Nucleus 0 2 Neutropenia, severe congenital 2, autosomal dominant; Dominant nonimmune chronic idiopathic neutropenia of adults 0 1 5 1999-07-15 Q99750 MDFI_HUMAN MDFI MyoD family inhibitor 246 25 6 Nucleus; Cytoplasm 0 0 0 1 5 2002-11-15 Q99880 H2B1L_HUMAN H2BC13 Histone H2B type 1-L 126 14 6 Nucleus; Chromosome 0 0 0 1 5 2000-05-30 Q99884 SC6A7_HUMAN SLC6A7 Sodium-dependent proline transporter 636 70.9 5 Synaptic cell membrane 12 0 0 1 5 1998-07-15 Q99941 ATF6B_HUMAN ATF6B Cyclic AMP-dependent transcription factor ATF-6 beta 703 76.7 6 Endoplasmic reticulum membrane 1 0 0 1 5 2002-01-23 Q99944 EGFL8_HUMAN EGFL8 Epidermal growth factor-like protein 8 293 32.3 6 Secreted 0 0 0 1 5 2004-10-25 Q99965 ADAM2_HUMAN ADAM2 Disintegrin and metalloproteinase domain-containing protein 2 735 82.5 8 Membrane 1 0 0 1 5 2000-05-30 Q9BPW8 NIPS1_HUMAN NIPSNAP1 Protein NipSnap homolog 1 284 33.3 22 Mitochondrion matrix 0 0 0 1 5 2001-09-26 Q9BPW9 DHRS9_HUMAN DHRS9 Dehydrogenase/reductase SDR family member 9 319 35.2 2 1.1.1.209, 1.1.1.53 Microsome membrane; Endoplasmic reticulum membrane 0 0 0 1 5 2005-10-25 Q9BQ83 SLX1_HUMAN SLX1A Structure-specific endonuclease subunit SLX1 275 30.8 16 3.1.-.- Nucleus 0 0 0 1 5 2008-04-29 Q9BQE3 TBA1C_HUMAN TUBA1C Tubulin alpha-1C chain 449 49.9 12 3.6.5.- Cytoplasm 0 1 Oocyte/zygote/embryo maturation arrest 24 0 1 5 2002-05-02 Q9BQG1 SYT3_HUMAN SYT3 Synaptotagmin-3 590 63.3 19 Cell membrane; Cytoplasmic vesicle 1 0 0 1 5 2001-10-18 Q9BQJ4 TMM47_HUMAN TMEM47 Transmembrane protein 47 181 20 X Membrane; Cell junction 4 0 0 1 5 2004-08-16 Q9BQL6 FERM1_HUMAN FERMT1 Fermitin family homolog 1 677 77.4 20 Cytoplasm; Cell junction; Cell projection 0 1 Kindler syndrome 0 1 5 2002-12-06 Q9BRK5 CAB45_HUMAN SDF4 45 kDa calcium-binding protein 362 41.8 1 Golgi apparatus lumen 0 0 0 1 5 2002-05-27 Q9BRL7 SC22C_HUMAN SEC22C Vesicle-trafficking protein SEC22c 303 34.3 3 Endoplasmic reticulum membrane 4 0 0 1 5 2008-03-18 Q9BRU9 UTP23_HUMAN UTP23 rRNA-processing protein UTP23 homolog 249 28.4 8 Nucleus 0 0 0 1 5 2007-05-01 Q9BRX8 PXL2A_HUMAN PRXL2A Peroxiredoxin-like 2A 229 25.8 10 Cytoplasm; Secreted 0 0 0 1 5 2005-08-16 Q9BS86 ZPBP1_HUMAN ZPBP Zona pellucida-binding protein 1 351 40.1 7 Cytoplasmic vesicle; Secreted 0 1 Spermatogenic failure 66 0 1 5 2004-10-11 Q9BSE2 TMM79_HUMAN TMEM79 Transmembrane protein 79 394 43.5 1 Lysosome; Golgi apparatus; Membrane 5 0 0 1 5 2006-10-31 Q9BSG1 ZNF2_HUMAN ZNF2 Zinc finger protein 2 425 48.7 2 Nucleus 0 0 0 1 5 2007-01-23 Q9BSK1 ZN577_HUMAN ZNF577 Zinc finger protein 577 485 54.9 19 Nucleus 0 0 0 1 5 2006-05-16 Q9BSK2 S2533_HUMAN SLC25A33 Solute carrier family 25 member 33 321 35.4 1 Mitochondrion inner membrane 6 0 0 1 5 2007-06-26 Q9BSK4 FEM1A_HUMAN FEM1A Protein fem-1 homolog A 669 73.6 19 Mitochondrion; Cytoplasm 0 0 0 1 5 2008-03-18 Q9BSR8 YIPF4_HUMAN YIPF4 Protein YIPF4 244 27.1 2 Golgi apparatus 5 0 0 1 5 2006-06-27 Q9BT22 ALG1_HUMAN ALG1 Chitobiosyldiphosphodolichol beta-mannosyltransferase 464 52.5 16 2.4.1.142 Endoplasmic reticulum membrane 1 1 Congenital disorder of glycosylation 1K 0 1 5 2005-08-30 Q9BT92 TCHP_HUMAN TCHP Trichoplein keratin filament-binding protein 498 61.1 12 Cytoplasm; Cell membrane; Mitochondrion; Cell junction 0 0 0 1 5 2007-06-26 Q9BTE7 DCNL5_HUMAN DCUN1D5 DCN1-like protein 5 237 27.5 11 Nucleus; Cytoplasm 0 0 0 1 5 2006-10-31 Q9BTL4 IER2_HUMAN IER2 Immediate early response gene 2 protein 223 24.2 19 Cytoplasm; Nucleus 0 0 0 1 5 2005-08-30 Q9BU61 NDUF3_HUMAN NDUFAF3 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3 184 20.4 3 Nucleus; Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 18 0 1 5 2007-03-20 Q9BUE6 ISCA1_HUMAN ISCA1 Iron-sulfur cluster assembly 1 homolog, mitochondrial 129 14.2 9 Mitochondrion 0 1 Multiple mitochondrial dysfunctions syndrome 5 0 1 5 2005-11-08 Q9BUF5 TBB6_HUMAN TUBB6 Tubulin beta-6 chain 446 49.9 18 Cytoplasm 0 1 Facial palsy, congenital, with ptosis and velopharyngeal dysfunction 0 1 5 2005-02-01 Q9BUM1 G6PC3_HUMAN G6PC3 Glucose-6-phosphatase 3 346 38.7 17 3.1.3.9 Endoplasmic reticulum membrane 9 2 Neutropenia, severe congenital 4, autosomal recessive; Dursun syndrome 0 1 5 2008-05-20 Q9BUX1 CHAC1_HUMAN CHAC1 Glutathione-specific gamma-glutamylcyclotransferase 1 222 24.4 15 4.3.2.7 Cytoplasm; Golgi apparatus 0 0 0 1 5 2006-05-30 Q9BUY5 ZN426_HUMAN ZNF426 Zinc finger protein 426 554 63.1 19 Nucleus 0 0 0 1 5 2003-09-19 Q9BV36 MELPH_HUMAN MLPH Melanophilin 600 65.9 2 Cytoplasm 0 1 Griscelli syndrome 3 0 1 5 2003-06-16 Q9BVC6 TM109_HUMAN TMEM109 Voltage-gated monoatomic cation channel TMEM109 243 26.2 11 Nucleus outer membrane; Endoplasmic reticulum membrane; Sarcoplasmic reticulum membrane 3 0 0 1 5 2005-12-20 Q9BVG3 TRI62_HUMAN TRIM62 E3 ubiquitin-protein ligase TRIM62 475 54.3 1 2.3.2.27 Cytoplasm 0 0 0 1 5 2006-09-19 Q9BW04 SARG_HUMAN SARG Specifically androgen-regulated gene protein 601 64 1 Cytoplasm 0 0 0 1 5 2008-02-05 Q9BW60 ELOV1_HUMAN ELOVL1 Very long chain fatty acid elongase 1 279 32.7 1 2.3.1.199 Endoplasmic reticulum membrane 7 1 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies 0 1 5 2002-01-23 Q9BW92 SYTM_HUMAN TARS2 Threonine--tRNA ligase, mitochondrial 718 81 1 6.1.1.3 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 21 0 1 5 2006-10-31 Q9BWH2 FUND2_HUMAN FUNDC2 FUN14 domain-containing protein 2 189 20.7 X Mitochondrion outer membrane; Nucleus 3 0 0 1 5 2008-01-15 Q9BWN1 PRR14_HUMAN PRR14 Proline-rich protein 14 585 64.3 16 Chromosome; Nucleus; Nucleus lamina 0 0 0 1 5 2007-10-23 Q9BWQ6 YIPF2_HUMAN YIPF2 Protein YIPF2 316 35.2 19 Golgi apparatus; Late endosome membrane 5 0 0 1 5 2006-06-27 Q9BWW7 SCRT1_HUMAN SCRT1 Transcriptional repressor scratch 1 348 35.6 8 Nucleus 0 0 0 1 5 2004-04-13 Q9BWW8 APOL6_HUMAN APOL6 Apolipoprotein L6 343 38.1 22 Cytoplasm 0 0 0 1 5 2001-08-29 Q9BWX1 PHF7_HUMAN PHF7 E3 ubiquitin-protein ligase PHF7 381 43.8 3 2.3.2.27 Nucleus 0 0 0 1 5 2005-04-26 Q9BX40 LS14B_HUMAN LSM14B Protein LSM14 homolog B 385 42.1 20 Cytoplasm 0 0 0 1 5 2005-07-19 Q9BXI9 C1QT6_HUMAN C1QTNF6 Complement C1q tumor necrosis factor-related protein 6 278 30.9 22 Secreted 0 0 0 1 5 2002-04-16 Q9BXJ4 C1QT3_HUMAN C1QTNF3 Complement C1q tumor necrosis factor-related protein 3 246 27 5 Secreted 0 0 0 1 5 2002-04-16 Q9BXJ5 C1QT2_HUMAN C1QTNF2 Complement C1q tumor necrosis factor-related protein 2 285 30 5 Secreted 0 0 0 1 5 2002-04-16 Q9BXU9 CABP8_HUMAN CALN1 Calcium-binding protein 8 261 29.3 7 Golgi apparatus; Cytoplasm; Cell membrane 1 0 0 1 5 2002-04-16 Q9BY77 PDIP3_HUMAN POLDIP3 Polymerase delta-interacting protein 3 421 46.1 22 Nucleus; Nucleus speckle; Cytoplasm 0 0 0 1 5 2002-10-19 Q9BYD5 CNFN_HUMAN CNFN Cornifelin 112 12.4 19 Cytoplasm 0 0 0 1 5 2006-11-28 Q9BYG4 PAR6G_HUMAN PARD6G Partitioning defective 6 homolog gamma 376 40.9 18 Cytoplasm; Cell membrane; Cell junction 0 0 0 1 5 2003-05-16 Q9BYP8 KR171_HUMAN KRTAP17-1 Keratin-associated protein 17-1 105 9.5 17 0 0 0 1 5 2006-02-21 Q9BYQ5 KRA46_HUMAN KRTAP4-6 Keratin-associated protein 4-6 205 21.8 17 0 0 0 1 5 2003-10-31 Q9BYR5 KRA42_HUMAN KRTAP4-2 Keratin-associated protein 4-2 136 14.5 17 0 0 0 1 5 2003-10-24 Q9BYR8 KRA31_HUMAN KRTAP3-1 Keratin-associated protein 3-1 98 10.5 17 0 0 0 1 5 2003-10-10 Q9BYR9 KRA24_HUMAN KRTAP2-4 Keratin-associated protein 2-4 128 13.5 17 0 0 0 1 5 2005-02-01 Q9BYT1 S17A9_HUMAN SLC17A9 Voltage-gated purine nucleotide uniporter SLC17A9 436 47.5 20 Cytoplasmic vesicle; Lysosome membrane 10 1 Porokeratosis 8, disseminated superficial actinic type 0 1 5 2004-05-24 Q9BYT9 ANO3_HUMAN ANO3 Anoctamin-3 981 114.7 11 Cell membrane 8 1 Dystonia 24 0 1 5 2004-01-16 Q9BYV7 BCDO2_HUMAN BCO2 Carotenoid-cleaving dioxygenase, mitochondrial 579 65.7 11 1.13.11.-, 1.13.11.71 Mitochondrion 0 0 0 1 5 2003-10-10 Q9BYZ6 RHBT2_HUMAN RHOBTB2 Rho-related BTB domain-containing protein 2 727 82.6 8 3.6.5.2 0 1 Developmental and epileptic encephalopathy 64 0 1 5 2002-11-28 Q9BZ67 FRMD8_HUMAN FRMD8 FERM domain-containing protein 8 464 51.2 11 Cytoplasm; Cell membrane 0 0 0 1 5 2007-07-24 Q9BZ72 PITM2_HUMAN PITPNM2 Membrane-associated phosphatidylinositol transfer protein 2 1349 148.9 12 Cell membrane; Endoplasmic reticulum membrane 0 0 0 1 5 2006-04-18 Q9BZC7 ABCA2_HUMAN ABCA2 ATP-binding cassette sub-family A member 2 2435 269.8 9 7.6.2.- Endosome membrane; Lysosome membrane 14 1 Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 1 5 2001-07-11 Q9BZG2 PPAT_HUMAN ACP4 Testicular acid phosphatase 426 46.1 19 3.1.3.48 Membrane 1 1 Amelogenesis imperfecta 1J 0 1 5 2006-10-31 Q9BZM1 PG12A_HUMAN PLA2G12A Group XIIA secretory phospholipase A2 189 21.1 4 3.1.1.4 Secreted; Cytoplasm 0 0 0 1 5 2002-02-11 Q9BZQ6 EDEM3_HUMAN EDEM3 ER degradation-enhancing alpha-mannosidase-like protein 3 932 104.7 1 3.2.1.113 Endoplasmic reticulum lumen 0 1 Congenital disorder of glycosylation 2V 0 1 5 2001-11-16 Q9BZW8 CD244_HUMAN CD244 Natural killer cell receptor 2B4 370 41.6 1 Membrane; Cell membrane; Membrane raft 1 0 0 1 5 2004-05-24 Q9BZX4 ROP1B_HUMAN ROPN1B Ropporin-1B 212 24 3 Cell projection 0 0 0 1 5 2007-10-23 Q9BZZ2 SN_HUMAN SIGLEC1 Sialoadhesin 1709 182.6 20 Cell membrane 1 0 0 1 5 2001-10-18 Q9C037 TRIM4_HUMAN TRIM4 E3 ubiquitin-protein ligase TRIM4 500 57.5 7 2.3.2.27 Cytoplasm 0 0 0 1 5 2004-05-10 Q9C0F3 ZN436_HUMAN ZNF436 Zinc finger protein 436 470 54.3 1 Nucleus 0 0 0 1 5 2002-03-27 Q9C0G0 ZN407_HUMAN ZNF407 Zinc finger protein 407 2248 247.4 18 Nucleus 0 1 Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies 0 1 5 2003-09-19 Q9C0K7 STRAB_HUMAN STRADB STE20-related kinase adapter protein beta 418 47 2 Nucleus; Cytoplasm 0 0 0 1 5 2005-12-20 Q9GZM7 TINAL_HUMAN TINAGL1 Tubulointerstitial nephritis antigen-like 467 52.4 1 Secreted 0 0 0 1 5 2005-03-15 Q9GZN2 TGIF2_HUMAN TGIF2 Homeobox protein TGIF2 237 25.9 20 Nucleus 0 0 0 1 5 2003-01-17 Q9GZN4 BSSP4_HUMAN PRSS22 Brain-specific serine protease 4 317 33.7 16 3.4.21.- Secreted 0 0 0 1 5 2001-10-18 Q9GZR5 ELOV4_HUMAN ELOVL4 Very long chain fatty acid elongase 4 314 36.8 6 2.3.1.199 Endoplasmic reticulum membrane 7 3 Stargardt disease 3; Ichthyosis, spastic quadriplegia, and impaired intellectual development; Spinocerebellar ataxia 34 0 1 5 2002-01-23 Q9GZY0 NXF2_HUMAN NXF2 Nuclear RNA export factor 2 626 71.6 X Nucleus; Cytoplasm 0 0 0 1 5 2002-05-15 Q9GZZ8 LACRT_HUMAN LACRT Extracellular glycoprotein lacritin 138 14.2 12 Secreted 0 0 0 1 5 2003-07-25 Q9H015 S22A4_HUMAN SLC22A4 Solute carrier family 22 member 4 551 62.2 5 Apical cell membrane; Basal cell membrane; Mitochondrion membrane 12 1 Rheumatoid arthritis 0 1 5 2004-07-19 Q9H079 KTBL1_HUMAN KATNBL1 KATNB1-like protein 1 304 34.8 15 Nucleus; Cytoplasm 0 0 0 1 5 2005-08-30 Q9H116 GZF1_HUMAN GZF1 GDNF-inducible zinc finger protein 1 711 80.5 20 Cytoplasm; Nucleus 0 1 Joint laxity, short stature, and myopia 0 1 5 2002-09-19 Q9H159 CAD19_HUMAN CDH19 Cadherin-19 772 87 18 Cell membrane 1 0 0 1 5 2001-10-24 Q9H195 MUC3B_HUMAN MUC3B Mucin-3B 13477 1397.8 Membrane 1 0 0 1 5 2006-11-28 Q9H1J7 WNT5B_HUMAN WNT5B Protein Wnt-5b 359 40.3 12 Secreted 0 0 0 1 5 2001-06-20 Q9H1K4 GHC2_HUMAN SLC25A18 Mitochondrial glutamate carrier 2 315 33.8 22 Mitochondrion inner membrane 6 0 0 1 5 2002-02-11 Q9H1M4 DB127_HUMAN DEFB127 Beta-defensin 127 99 11.3 20 Secreted 0 0 0 1 5 2002-10-10 Q9H1P6 CMIP1_HUMAN CIMIP1 Ciliary microtubule inner protein 1 137 15.7 20 Cell projection 0 0 0 1 5 2003-01-10 Q9H239 MMP28_HUMAN MMP28 Matrix metalloproteinase-28 520 58.9 17 3.4.24.- Secreted 0 0 0 1 5 2001-06-01 Q9H254 SPTN4_HUMAN SPTBN4 Spectrin beta chain, non-erythrocytic 4 2564 289 19 Cytoplasm 0 1 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness 0 1 5 2001-11-16 Q9H295 DCSTP_HUMAN DCSTAMP Dendritic cell-specific transmembrane protein 470 53.4 8 Cell membrane; Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Endosome 6 0 0 1 5 2005-07-19 Q9H2A2 AL8A1_HUMAN ALDH8A1 2-aminomuconic semialdehyde dehydrogenase 487 53.4 6 1.2.1.32 Cytoplasm 0 0 0 1 5 2008-01-15 Q9H2A7 CXL16_HUMAN CXCL16 C-X-C motif chemokine 16 254 27.6 17 Cell membrane; Secreted 1 0 0 1 5 2001-12-05 Q9H2P9 DPH5_HUMAN DPH5 Diphthine methyl ester synthase 285 31.7 1 2.1.1.314 0 1 Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 0 1 5 2003-10-10 Q9H2U2 IPYR2_HUMAN PPA2 Inorganic pyrophosphatase 2, mitochondrial 334 37.9 4 3.6.1.1 Mitochondrion 0 2 Sudden cardiac failure, alcohol-induced; Sudden cardiac failure, infantile 0 1 5 2004-09-27 Q9H2W2 MIXL1_HUMAN MIXL1 Homeobox protein MIXL1 232 24.7 1 Nucleus 0 0 0 1 5 2007-11-13 Q9H2X0 CHRD_HUMAN CHRD Chordin 955 102 3 Secreted 0 0 0 1 5 2001-09-26 Q9H3M0 KCNF1_HUMAN KCNF1 Voltage-gated potassium channel regulatory subunit KCNF1 494 55.6 2 Cell membrane 6 0 0 1 5 2002-10-25 Q9H3S1 SEM4A_HUMAN SEMA4A Semaphorin-4A 761 83.6 1 Cell membrane 1 2 Retinitis pigmentosa 35; Cone-rod dystrophy 10 0 1 5 2002-05-02 Q9H3Y6 SRMS_HUMAN SRMS Tyrosine-protein kinase Srms 488 54.5 20 2.7.10.2 Cytoplasm 0 0 0 1 5 2003-01-17 Q9H4B0 OSGL1_HUMAN OSGEPL1 tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial 414 45.1 2 2.3.1.234 Mitochondrion 0 0 0 1 5 2007-10-23 Q9H4E5 RHOJ_HUMAN RHOJ Rho-related GTP-binding protein RhoJ 214 23.8 14 3.6.5.2 Cell membrane 0 0 0 1 5 2002-10-25 Q9H598 VIAAT_HUMAN SLC32A1 Vesicular inhibitory amino acid transporter 525 57.4 20 Cytoplasmic vesicle membrane; Presynapse 9 2 Generalized epilepsy with febrile seizures plus 12; Developmental and epileptic encephalopathy 114 0 1 5 2003-03-28 Q9H5I5 PIEZ2_HUMAN PIEZO2 Piezo-type mechanosensitive ion channel component 2 2752 318.1 18 Cell membrane 38 4 Arthrogryposis, distal, 5; Arthrogryposis, distal, 3; Marden-Walker syndrome; Arthrogryposis, distal, with impaired proprioception and touch 0 1 5 2005-11-22 Q9H799 CPLN1_HUMAN CPLANE1 Ciliogenesis and planar polarity effector 1 3197 361.7 5 Membrane; Cell projection 2 2 Joubert syndrome 17; Orofaciodigital syndrome 6 0 1 5 2008-04-29 Q9H7C4 SYNCI_HUMAN SYNC Syncoilin 482 55.3 1 Cytoplasm 0 0 0 1 5 2007-10-02 Q9H7L9 SDS3_HUMAN SUDS3 Sin3 histone deacetylase corepressor complex component SDS3 328 38.1 12 Nucleus 0 0 0 1 5 2005-06-21 Q9H7S9 ZN703_HUMAN ZNF703 Zinc finger protein 703 590 58.2 8 Nucleus; Cytoplasm 0 0 0 1 5 2005-12-06 Q9H7Z7 PGES2_HUMAN PTGES2 Prostaglandin E synthase 2 377 41.9 9 5.3.99.3 Golgi apparatus membrane 1 0 0 1 5 2005-08-30 Q9H869 YYAP1_HUMAN YY1AP1 YY1-associated protein 1 796 87.9 1 Cytoplasm; Nucleus 0 1 Grange syndrome 0 1 5 2005-12-20 Q9H8K7 PAAT_HUMAN PAAT ATPase PAAT 445 49.2 10 3.6.1.- Cytoplasm; Mitochondrion 0 0 0 1 5 2006-11-28 Q9H902 REEP1_HUMAN REEP1 Receptor expression-enhancing protein 1 201 22.3 2 Membrane; Mitochondrion membrane; Endoplasmic reticulum 3 3 Spastic paraplegia 31, autosomal dominant; Neuronopathy, distal hereditary motor, autosomal dominant 12; Neuronopathy, distal hereditary motor, autosomal recessive 6 0 1 5 2005-12-20 Q9H987 SYP2L_HUMAN SYNPO2L Synaptopodin 2-like protein 977 102.5 10 Cytoplasm 0 0 0 1 5 2004-08-31 Q9H9B4 SFXN1_HUMAN SFXN1 Sideroflexin-1 322 35.6 5 Mitochondrion inner membrane 5 0 0 1 5 2002-03-27 Q9H9D4 ZN408_HUMAN ZNF408 Zinc finger protein 408 720 78.4 11 Nucleus 0 2 Vitreoretinopathy, exudative 6; Retinitis pigmentosa 72 0 1 5 2001-11-16 Q9HA65 TBC17_HUMAN TBC1D17 TBC1 domain family member 17 648 72.7 19 Cytoplasmic vesicle; Cytoplasm; Recycling endosome 0 0 0 1 5 2005-02-15 Q9HA82 CERS4_HUMAN CERS4 Ceramide synthase 4 394 46.4 19 2.3.1.- Endoplasmic reticulum membrane 6 0 0 1 5 2004-08-16 Q9HAV0 GBB4_HUMAN GNB4 Guanine nucleotide-binding protein subunit beta-4 340 37.6 3 0 1 Charcot-Marie-Tooth disease, dominant intermediate F 0 1 5 2002-08-13 Q9HB63 NET4_HUMAN NTN4 Netrin-4 628 70.1 12 Secreted 0 0 0 1 5 2005-09-27 Q9HBT8 Z286A_HUMAN ZNF286A Zinc finger protein 286A 521 60.2 17 Nucleus 0 0 0 1 5 2002-01-23 Q9HBU6 EKI1_HUMAN ETNK1 Ethanolamine kinase 1 452 51 12 2.7.1.82 Cytoplasm 0 0 0 1 5 2001-06-01 Q9HBU9 POPD2_HUMAN POPDC2 Popeye domain-containing protein 2 364 40.4 3 Membrane; Cell membrane 2 1 Cardiac conduction disease with or without cardiomyopathy 2 0 1 5 2003-10-31 Q9HC07 TM165_HUMAN TMEM165 Putative divalent cation/proton antiporter TMEM165 324 34.9 4 Golgi apparatus membrane 6 1 Congenital disorder of glycosylation 2K 0 1 5 2006-07-25 Q9HC96 CAN10_HUMAN CAPN10 Calpain-10 672 75 2 3.4.22.- 0 1 Type 2 diabetes mellitus 1 0 1 5 2002-05-27 Q9HCH3 CPNE5_HUMAN CPNE5 Copine-5 593 65.7 6 Perikaryon; Cell projection 0 0 0 1 5 2001-04-27 Q9HCK0 ZBT26_HUMAN ZBTB26 Zinc finger and BTB domain-containing protein 26 441 50 9 Nucleus 0 0 0 1 5 2002-04-16 Q9HCN3 PGAP6_HUMAN PGAP6 Post-GPI attachment to proteins factor 6 771 84.8 16 3.1.1.4 Cell membrane; Lysosome membrane 7 0 0 1 5 2002-10-10 Q9HCP6 HHATL_HUMAN HHATL Protein-cysteine N-palmitoyltransferase HHAT-like protein 504 56.7 3 Endoplasmic reticulum membrane 8 0 0 1 5 2002-09-19 Q9HCR9 PDE11_HUMAN PDE11A Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A 933 104.8 2 3.1.4.35, 3.1.4.53 Cytoplasm 0 1 Primary pigmented nodular adrenocortical disease 2 0 1 5 2006-07-25 Q9HCX4 TRPC7_HUMAN TRPC7 Short transient receptor potential channel 7 862 99.6 5 Cell membrane; Nucleus envelope 6 0 0 1 5 2001-06-20 Q9HDB5 NRX3B_HUMAN NRXN3 Neurexin-3-beta 637 69.3 14 Presynaptic cell membrane 1 0 0 1 5 2001-11-16 Q9NNW5 WDR6_HUMAN WDR6 tRNA (34-2'-O)-methyltransferase regulator WDR6 1121 121.7 3 Cytoplasm 0 0 0 1 5 2001-01-11 Q9NP73 ALG13_HUMAN ALG13 UDP-N-acetylglucosamine transferase subunit ALG13 1137 126.1 X 2.4.1.141 Endoplasmic reticulum membrane 0 1 Developmental and epileptic encephalopathy 36 0 1 5 2006-10-31 Q9NP78 ABCB9_HUMAN ABCB9 ABC-type oligopeptide transporter ABCB9 766 84.5 12 7.4.2.6 Lysosome membrane 8 0 0 1 5 2002-08-02 Q9NPB3 CABP2_HUMAN CABP2 Calcium-binding protein 2 220 24.5 11 Cytoplasm; Cell membrane; Golgi apparatus 0 1 Deafness, autosomal recessive, 93 0 1 5 2001-04-27 Q9NPF8 ADAP2_HUMAN ADAP2 Arf-GAP with dual PH domain-containing protein 2 381 44.3 17 Cytoplasm; Cell membrane 0 0 0 1 5 2003-01-27 Q9NPG4 PCD12_HUMAN PCDH12 Protocadherin-12 1184 129 5 Cell membrane; Cell junction 1 1 Diencephalic-mesencephalic junction dysplasia syndrome 1 0 1 5 2002-08-02 Q9NPG8 ZDHC4_HUMAN ZDHHC4 Palmitoyltransferase ZDHHC4 344 39.8 7 2.3.1.225 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell membrane 5 0 0 1 5 2003-02-01 Q9NPL8 TIDC1_HUMAN TIMMDC1 Complex I assembly factor TIMMDC1, mitochondrial 285 32.2 3 Mitochondrion membrane 4 1 Mitochondrial complex I deficiency, nuclear type 31 0 1 5 2006-10-17 Q9NPQ8 RIC8A_HUMAN RIC8A Chaperone Ric-8A 531 59.7 11 Cytoplasm 0 0 0 1 5 2006-05-16 Q9NQ30 ESM1_HUMAN ESM1 Endothelial cell-specific molecule 1 184 20.1 5 Secreted 0 0 0 1 5 2001-04-27 Q9NQ36 SCUB2_HUMAN SCUBE2 Signal peptide, CUB and EGF-like domain-containing protein 2 999 110 11 Secreted; Cell surface 0 0 0 1 5 2006-10-31 Q9NQ87 HEYL_HUMAN HEYL Hairy/enhancer-of-split related with YRPW motif-like protein 328 35.1 1 Nucleus 0 0 0 1 5 2007-05-01 Q9NR63 CP26B_HUMAN CYP26B1 Cytochrome P450 26B1 512 57.5 2 1.14.13.- Endoplasmic reticulum membrane; Microsome membrane 0 1 Radiohumeral fusions with other skeletal and craniofacial anomalies 0 1 5 2002-01-23 Q9NR99 MXRA5_HUMAN MXRA5 Matrix-remodeling-associated protein 5 2828 312.2 X Secreted 0 1 Lung cancer 0 1 5 2006-10-31 Q9NRA0 SPHK2_HUMAN SPHK2 Sphingosine kinase 2 654 69.2 19 2.7.1.91 Cytoplasm; Nucleus; Endoplasmic reticulum; Mitochondrion inner membrane 0 0 0 1 5 2001-10-24 Q9NRG0 CHRC1_HUMAN CHRAC1 Chromatin accessibility complex protein 1 131 14.7 8 Nucleus 0 0 0 1 5 2002-08-30 Q9NRP7 STK36_HUMAN STK36 Serine/threonine-protein kinase 36 1315 144 2 2.7.11.1 Cell projection; Cytoplasm; Nucleus 0 1 Ciliary dyskinesia, primary, 46 0 1 5 2006-03-21 Q9NRS4 TMPS4_HUMAN TMPRSS4 Transmembrane protease serine 4 437 48.2 11 3.4.21.- Cell membrane 1 0 0 1 5 2001-04-27 Q9NRZ7 PLCC_HUMAN AGPAT3 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma 376 43.4 21 2.3.1.51 Endoplasmic reticulum membrane; Nucleus envelope 2 0 0 1 5 2001-01-11 Q9NS39 RED2_HUMAN ADARB2 Inactive double-stranded RNA-specific editase B2 739 80.6 10 Nucleus 0 0 0 1 5 2003-07-19 Q9NS62 THSD1_HUMAN THSD1 Thrombospondin type-1 domain-containing protein 1 852 94.6 13 Endosome membrane; Cell junction 1 2 Lymphatic malformation 13; Aneurysm, intracranial berry, 12 0 1 5 2006-09-19 Q9NSB4 KRT82_HUMAN KRT82 Keratin, type II cuticular Hb2 513 56.7 12 Cytoplasm 0 0 0 1 5 2004-03-29 Q9NSE2 CISH_HUMAN CISH Cytokine-inducible SH2-containing protein 258 28.7 3 0 0 0 1 5 2001-02-21 Q9NSI5 IGSF5_HUMAN IGSF5 Immunoglobulin superfamily member 5 407 44.6 21 Apical cell membrane; Cell junction 1 0 0 1 5 2008-02-05 Q9NST1 PLPL3_HUMAN PNPLA3 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 481 52.9 22 2.3.1.51 Membrane; Lipid droplet 1 1 Non-alcoholic fatty liver disease 1 0 1 5 2003-07-03 Q9NSY0 NRBP2_HUMAN NRBP2 Nuclear receptor-binding protein 2 501 57.8 8 Cytoplasm 0 0 0 1 5 2006-03-07 Q9NTN9 SEM4G_HUMAN SEMA4G Semaphorin-4G 838 91.5 10 Cell membrane 1 0 0 1 5 2001-04-27 Q9NU39 FX4L1_HUMAN FOXD4L1 Forkhead box protein D4-like 1 408 43.6 2 Nucleus 0 0 0 1 5 2003-01-27 Q9NUJ3 T11L1_HUMAN TCP11L1 T-complex protein 11-like protein 1 509 57 11 0 0 0 1 5 2008-01-15 Q9NUQ3 TXLNG_HUMAN TXLNG Gamma-taxilin 528 60.6 X Nucleus membrane; Cytoplasm 0 0 0 1 5 2004-11-09 Q9NUV7 SPTC3_HUMAN SPTLC3 Serine palmitoyltransferase 3 552 62 20 2.3.1.50 Endoplasmic reticulum membrane 1 0 0 1 5 2002-10-10 Q9NV64 TM39A_HUMAN TMEM39A Transmembrane protein 39A 488 55.7 3 Endoplasmic reticulum membrane 8 0 0 1 5 2007-03-06 Q9NVA1 UQCC1_HUMAN UQCC1 Ubiquinol-cytochrome c reductase complex assembly factor 1 299 34.6 20 Mitochondrion inner membrane; Cytoplasmic vesicle 0 0 0 1 5 2003-02-22 Q9NVL8 FAME_HUMAN CCDC198 Factor associated with metabolism and energy 296 34.7 14 Cell membrane; Cytoplasmic vesicle 0 0 0 1 5 2005-07-05 Q9NVV5 AIG1_HUMAN AIG1 Androgen-induced gene 1 protein 238 27.5 6 Cell membrane 6 0 0 1 5 2004-12-21 Q9NW13 RBM28_HUMAN RBM28 RNA-binding protein 28 759 85.7 7 Nucleus 0 1 Alopecia, neurologic defects, and endocrinopathy syndrome 0 1 5 2004-11-23 Q9NWF4 S52A1_HUMAN SLC52A1 Solute carrier family 52, riboflavin transporter, member 1 448 46.3 17 Cell membrane 11 1 Riboflavin deficiency 0 1 5 2005-10-11 Q9NWH2 TM242_HUMAN TMEM242 Transmembrane protein 242 141 14.8 6 Mitochondrion inner membrane 2 0 0 1 5 2007-07-24 Q9NWL6 ASND1_HUMAN ASNSD1 Asparagine synthetase domain-containing protein 1 643 72.1 2 0 0 0 1 5 2008-03-18 Q9NWQ4 GPT2L_HUMAN GPATCH2L G patch domain-containing protein 2-like 482 54.3 14 0 0 0 1 5 2005-08-02 Q9NWS1 PARI_HUMAN PARPBP PCNA-interacting partner 579 65.1 12 Cytoplasm; Nucleus 0 0 0 1 5 2007-03-20 Q9NWS6 F118A_HUMAN SIRAL2 SIR2 antiphage-like protein 2 357 40.3 22 Membrane 1 0 0 1 5 2005-07-05 Q9NWS9 ZN446_HUMAN ZNF446 Zinc finger protein 446 450 49 19 Nucleus 0 0 0 1 5 2004-11-23 Q9NWT1 PK1IP_HUMAN PAK1IP1 p21-activated protein kinase-interacting protein 1 392 44 6 Nucleus 0 0 0 1 5 2005-07-19 Q9NWW5 CLN6_HUMAN CLN6 Ceroid-lipofuscinosis neuronal protein 6 311 35.9 15 Endoplasmic reticulum membrane; Endoplasmic reticulum 7 2 Ceroid lipofuscinosis, neuronal, 6; Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive 0 1 5 2003-06-16 Q9NWX5 ASB6_HUMAN ASB6 Ankyrin repeat and SOCS box protein 6 421 47.1 9 Cytoplasm 0 0 0 1 5 2003-02-28 Q9NXB0 MKS1_HUMAN MKS1 Tectonic-like complex member MKS1 559 64.5 17 Cytoplasm 0 3 Meckel syndrome 1; Bardet-Biedl syndrome 13; Joubert syndrome 28 0 1 5 2006-03-07 Q9NXE4 NSMA3_HUMAN SMPD4 Sphingomyelin phosphodiesterase 4 866 97.8 2 3.1.4.12 Endoplasmic reticulum membrane; Golgi apparatus membrane; Nucleus envelope; Cell membrane 1 1 Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies 0 1 5 2007-01-23 Q9NXJ5 PGPI_HUMAN PGPEP1 Pyroglutamyl-peptidase 1 209 23.1 19 3.4.19.3 Cytoplasm 0 0 0 1 5 2001-06-20 Q9NXK8 FXL12_HUMAN FBXL12 F-box/LRR-repeat protein 12 326 37 19 0 0 0 1 5 2003-11-07 Q9NXV6 CARF_HUMAN CDKN2AIP CDKN2A-interacting protein 580 61.1 4 Nucleus 0 0 0 1 5 2008-03-18 Q9NXZ2 DDX43_HUMAN DDX43 Probable ATP-dependent RNA helicase DDX43 648 72.8 6 3.6.4.13 0 0 0 1 5 2005-10-25 Q9NY30 BTG4_HUMAN BTG4 Protein BTG4 223 26 11 0 1 Oocyte/zygote/embryo maturation arrest 8 0 1 5 2001-04-27 Q9NY35 CLDN1_HUMAN CLDND1 Claudin domain-containing protein 1 253 28.6 3 Cell junction; Cell membrane 4 0 0 1 5 2002-05-10 Q9NY65 TBA8_HUMAN TUBA8 Tubulin alpha-8 chain 449 50.1 22 3.6.5.- Cytoplasm 0 1 Macrothrombocytopenia, isolated, 2, autosomal dominant 0 1 5 2001-01-24 Q9NY91 SC5A4_HUMAN SLC5A4 Probable glucose sensor protein SLC5A4 659 72.5 22 Cell membrane 11 0 0 1 5 2001-09-26 Q9NYF0 DACT1_HUMAN DACT1 Dapper homolog 1 836 90.2 14 Cytoplasm; Nucleus; Synapse 0 2 Neural tube defects; Townes-Brocks syndrome 2 0 1 5 2003-08-15 Q9NYI0 PSD3_HUMAN PSD3 PH and SEC7 domain-containing protein 3 1048 116 8 Cell membrane; Cell projection; Postsynaptic density 0 0 0 1 5 2003-10-10 Q9NYK6 EURL_HUMAN EURL Protein EURL homolog 297 33.9 21 0 0 0 1 5 2001-09-26 Q9NYM9 BET1L_HUMAN BET1L BET1-like protein 111 12.4 11 Golgi apparatus membrane; Golgi apparatus 1 0 0 1 5 2006-04-18 Q9NYP7 ELOV5_HUMAN ELOVL5 Very long chain fatty acid elongase 5 299 35.3 6 2.3.1.199 Endoplasmic reticulum membrane; Cell projection 7 1 Spinocerebellar ataxia 38 0 1 5 2007-04-03 Q9NYP8 EPCIP_HUMAN EPCIP Exosomal polycystin-1-interacting protein 219 24.9 21 Vesicle; Secreted 0 0 0 1 5 2001-09-26 Q9NYX4 CALY_HUMAN CALY Neuron-specific vesicular protein calcyon 217 23.4 10 Cytoplasmic vesicle membrane; Cell membrane 1 0 0 1 5 2001-09-26 Q9NYY8 FAKD2_HUMAN FASTKD2 FAST kinase domain-containing protein 2, mitochondrial 710 81.5 2 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 44 0 1 5 2006-02-07 Q9NZ20 PA2G3_HUMAN PLA2G3 Group 3 secretory phospholipase A2 509 57.2 22 3.1.1.4 Secreted; Cell membrane; Cytoplasm; Recycling endosome 0 0 0 1 5 2002-02-11 Q9NZH0 GPC5B_HUMAN GPRC5B G protein-coupled receptor family C group 5 member B 403 44.8 16 Cell membrane; Cytoplasmic vesicle membrane 7 1 Megalencephalic leukoencephalopathy with subcortical cysts 3 0 1 5 2004-04-13 Q9NZJ7 MTCH1_HUMAN MTCH1 Mitochondrial carrier homolog 1 389 41.5 6 Mitochondrion outer membrane 6 0 0 1 5 2006-04-04 Q9NZP6 NPAP1_HUMAN NPAP1 Nuclear pore-associated protein 1 1156 121 15 Nucleus; Nucleus inner membrane 0 0 0 1 5 2006-06-27 Q9NZV1 CRIM1_HUMAN CRIM1 Cysteine-rich motor neuron 1 protein 1036 113.7 2 Cell membrane 1 0 0 1 5 2005-06-07 Q9P0L1 ZKSC7_HUMAN ZKSCAN7 Zinc finger protein with KRAB and SCAN domains 7 754 85 3 Nucleus 0 0 0 1 5 2004-11-23 Q9P0S2 COX16_HUMAN COX16 Cytochrome c oxidase assembly protein COX16 homolog, mitochondrial 106 12.3 14 Mitochondrion inner membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 22 0 1 5 2005-07-05 Q9P109 GCNT4_HUMAN GCNT4 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 453 53.1 5 2.4.1.102 Golgi apparatus membrane 1 0 0 1 5 2007-05-29 Q9P1Q5 OR1A1_HUMAN OR1A1 Olfactory receptor 1A1 309 34.6 17 Cell membrane 7 0 0 1 5 2001-06-20 Q9P1Z0 ZBTB4_HUMAN ZBTB4 Zinc finger and BTB domain-containing protein 4 1013 105.1 17 Nucleus; Chromosome 0 0 0 1 5 2004-04-26 Q9P1Z2 CACO1_HUMAN CALCOCO1 Calcium-binding and coiled-coil domain-containing protein 1 691 77.3 12 Cytoplasm; Nucleus 0 0 0 1 5 2007-10-23 Q9P241 AT10D_HUMAN ATP10D Phospholipid-transporting ATPase VD 1426 160.3 4 7.6.2.1 Cell membrane; Endoplasmic reticulum membrane 10 0 0 1 5 2001-10-18 Q9P273 TEN3_HUMAN TENM3 Teneurin-3 2699 301 4 Cell membrane; Cell projection 1 2 Microphthalmia/Coloboma 9; Microphthalmia, syndromic, 15 0 1 5 2006-10-31 Q9P2N7 KLH13_HUMAN KLHL13 Kelch-like protein 13 655 73.9 X 0 0 0 1 5 2001-04-27 Q9P2P6 STAR9_HUMAN STARD9 StAR-related lipid transfer protein 9 4700 516.3 15 Cytoplasm; Nucleus 0 0 0 1 5 2002-11-08 Q9P2S5 WRP73_HUMAN WRAP73 WD repeat-containing protein WRAP73 460 51.6 1 Cytoplasm 0 0 0 1 5 2001-09-26 Q9P2T0 SPMA2_HUMAN SPMAP2 Sperm microtubule associated protein 2 379 43.4 19 Nucleus 0 0 0 1 5 2007-10-02 Q9P2W1 HOP2_HUMAN PSMC3IP Homologous-pairing protein 2 homolog 217 24.9 17 Nucleus 0 1 Ovarian dysgenesis 3 0 1 5 2008-01-15 Q9UBB4 ATX10_HUMAN ATXN10 Ataxin-10 475 53.5 22 Cytoplasm; Midbody 0 1 Spinocerebellar ataxia 10 0 1 5 2001-10-18 Q9UBC5 MYO1A_HUMAN MYO1A Unconventional myosin-Ia 1043 118.4 12 Cell projection 0 1 Diarrhea 15, congenital 0 1 5 2001-04-27 Q9UBD0 HSFX1_HUMAN HSFX1 Heat shock transcription factor, X-linked 423 46.7 X Nucleus; Cytoplasm 0 0 0 1 5 2008-06-10 Q9UBF2 COPG2_HUMAN COPG2 Coatomer subunit gamma-2 871 97.6 7 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle 0 0 0 1 5 2001-02-21 Q9UBI6 GBG12_HUMAN GNG12 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12 72 8 1 Cell membrane 0 0 0 1 5 2000-12-01 Q9UBM7 DHCR7_HUMAN DHCR7 7-dehydrocholesterol reductase 475 54.5 11 1.3.1.21 Endoplasmic reticulum membrane 7 1 Smith-Lemli-Opitz syndrome 0 1 5 2002-01-31 Q9UBR4 LHX3_HUMAN LHX3 LIM/homeobox protein Lhx3 397 43.4 9 Nucleus 0 1 Pituitary hormone deficiency, combined, 3 0 1 5 2000-05-30 Q9UBS0 KS6B2_HUMAN RPS6KB2 Ribosomal protein S6 kinase beta-2 482 53.5 11 2.7.11.1 Cytoplasm; Nucleus 0 0 0 1 5 2000-12-01 Q9UBX8 B4GT6_HUMAN B4GALT6 Beta-1,4-galactosyltransferase 6 382 44.9 18 2.4.1.- Golgi apparatus 1 0 0 1 5 2001-02-21 Q9UBY0 SL9A2_HUMAN SLC9A2 Sodium/hydrogen exchanger 2 812 91.5 2 Apical cell membrane 12 0 0 1 5 2000-12-01 Q9UBY8 CLN8_HUMAN CLN8 Protein CLN8 286 32.8 8 Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Endoplasmic reticulum 5 2 Ceroid lipofuscinosis, neuronal, 8; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 0 1 5 2002-05-02 Q9UBZ4 APEX2_HUMAN APEX2 DNA-(apurinic or apyrimidinic site) endonuclease 2 518 57.4 X 3.1.11.2 Nucleus; Cytoplasm; Mitochondrion 0 0 0 1 5 2005-08-30 Q9UEW3 MARCO_HUMAN MARCO Macrophage receptor MARCO 520 52.7 2 Cell membrane 1 0 0 1 5 2001-09-26 Q9UEY8 ADDG_HUMAN ADD3 Gamma-adducin 706 79.2 10 Cytoplasm; Cell membrane 0 1 Cerebral palsy, spastic quadriplegic 3 0 1 5 2000-12-01 Q9UFH2 DYH17_HUMAN DNAH17 Dynein axonemal heavy chain 17 4462 509.3 17 Cytoplasm; Cell projection 0 1 Spermatogenic failure 39 0 1 5 2008-03-18 Q9UGI9 AAKG3_HUMAN PRKAG3 5'-AMP-activated protein kinase subunit gamma-3 489 54.3 2 0 0 0 1 5 2001-06-01 Q9UGP4 LIMD1_HUMAN LIMD1 LIM domain-containing protein 1 676 72.2 3 Cytoplasm; Nucleus; Cell junction 0 0 0 1 5 2004-05-24 Q9UGR2 Z3H7B_HUMAN ZC3H7B Zinc finger CCCH domain-containing protein 7B 977 109.9 22 Nucleus 0 0 0 1 5 2002-05-02 Q9UHF3 NAT8B_HUMAN NAT8B N-acetyltransferase 8B 227 25.4 2.3.1.- Endoplasmic reticulum-Golgi intermediate compartment membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2007-04-17 Q9UHF5 IL17B_HUMAN IL17B Interleukin-17B 180 20.4 5 Secreted 0 0 0 1 5 2002-01-31 Q9UHF7 TRPS1_HUMAN TRPS1 Zinc finger transcription factor Trps1 1281 141.5 8 Nucleus 0 3 Tricho-rhino-phalangeal syndrome 1; Tricho-rhino-phalangeal syndrome 2; Tricho-rhino-phalangeal syndrome 3 0 1 5 2002-03-27 Q9UHG2 PCS1N_HUMAN PCSK1N ProSAAS 260 27.4 X Secreted; Golgi apparatus 0 0 0 1 5 2006-10-31 Q9UHJ3 SMBT1_HUMAN SFMBT1 Scm-like with four MBT domains protein 1 866 98.1 3 Nucleus 0 0 0 1 5 2005-06-07 Q9UHJ6 SHPK_HUMAN SHPK Sedoheptulokinase 478 51.5 17 2.7.1.14 Cytoplasm 0 1 Sedoheptulokinase deficiency 0 1 5 2001-04-27 Q9UHR5 S30BP_HUMAN SAP30BP SAP30-binding protein 308 33.9 17 Nucleus; Nucleus speckle 0 0 0 1 5 2006-07-11 Q9UI14 PRAF1_HUMAN RABAC1 Prenylated Rab acceptor protein 1 185 20.6 19 Cell membrane; Cytoplasm; Golgi apparatus; Cytoplasmic vesicle 4 0 0 1 5 2004-12-07 Q9UIL8 PHF11_HUMAN PHF11 PHD finger protein 11 331 37.6 13 Nucleus 0 0 0 1 5 2003-10-03 Q9UIW0 VAX2_HUMAN VAX2 Ventral anterior homeobox 2 290 30.9 2 Nucleus 0 0 0 1 5 2002-05-10 Q9UJ90 KCNE5_HUMAN KCNE5 Potassium voltage-gated channel subfamily E regulatory beta subunit 5 142 15 X Membrane 1 1 AMME complex 0 1 5 2002-12-13 Q9UJA2 CRLS1_HUMAN CRLS1 Cardiolipin synthase (CMP-forming) 301 32.6 20 2.7.8.41 Mitochondrion inner membrane 5 1 Combined oxidative phosphorylation deficiency 57 0 1 5 2003-10-03 Q9UJT1 TBD_HUMAN TUBD1 Tubulin delta chain 453 51 17 Nucleus; Cytoplasm; Cell projection 0 0 0 1 5 2000-12-01 Q9UJT9 FBXL7_HUMAN FBXL7 F-box/LRR-repeat protein 7 491 54.6 5 Cytoplasm 0 0 0 1 5 2003-10-03 Q9UJW8 ZN180_HUMAN ZNF180 Zinc finger protein 180 692 79 19 Nucleus 0 0 0 1 5 2002-02-11 Q9UK33 ZN580_HUMAN ZNF580 Zinc finger protein 580 172 18.8 19 Nucleus 0 0 0 1 5 2004-11-23 Q9UKF5 ADA29_HUMAN ADAM29 Disintegrin and metalloproteinase domain-containing protein 29 820 92.8 4 Membrane 1 0 0 1 5 2001-06-20 Q9UKF7 PITC1_HUMAN PITPNC1 Cytoplasmic phosphatidylinositol transfer protein 1 332 38.4 17 Cytoplasm 0 0 0 1 5 2007-05-15 Q9UKI8 TLK1_HUMAN TLK1 Serine/threonine-protein kinase tousled-like 1 766 86.7 2 2.7.11.1 Nucleus 0 0 0 1 5 2003-08-22 Q9UKS6 PACN3_HUMAN PACSIN3 Protein kinase C and casein kinase substrate in neurons protein 3 424 48.5 11 Cytoplasm; Cell membrane 0 1 Congenital myopathy 27 0 1 5 2002-08-13 Q9UKT8 FBXW2_HUMAN FBXW2 F-box/WD repeat-containing protein 2 454 51.5 9 0 0 0 1 5 2001-01-11 Q9UKZ4 TEN1_HUMAN TENM1 Teneurin-1 2725 305 X Cell membrane 1 0 0 1 5 2006-10-31 Q9UL17 TBX21_HUMAN TBX21 T-box transcription factor TBX21 535 58.3 17 Nucleus 0 2 Asthma, with nasal polyps and aspirin intolerance; Immunodeficiency 88 0 1 5 2001-01-11 Q9UL26 RB22A_HUMAN RAB22A Ras-related protein Rab-22A 194 21.9 20 3.6.5.2 Endosome membrane; Cell membrane; Early endosome; Late endosome; Cell projection; Cytoplasmic vesicle 0 0 0 1 5 2001-04-27 Q9UL33 TPC2L_HUMAN TRAPPC2L Trafficking protein particle complex subunit 2-like protein 140 16.1 16 Cytoplasm; Endoplasmic reticulum; Golgi apparatus 0 1 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 0 1 5 2007-07-10 Q9ULE0 WWC3_HUMAN WWC3 Protein WWC3 1216 136.6 X Cytoplasm 0 0 0 1 5 2006-06-27 Q9ULF5 S39AA_HUMAN SLC39A10 Zinc transporter ZIP10 831 94.1 2 Cell membrane; Apical cell membrane 7 0 0 1 5 2007-08-21 Q9ULH7 MRTFB_HUMAN MRTFB Myocardin-related transcription factor B 1088 118.1 16 Nucleus 0 0 0 1 5 2003-06-27 Q9ULP0 NDRG4_HUMAN NDRG4 Protein NDRG4 352 38.5 16 Cytoplasm 0 0 0 1 5 2000-12-01 Q9ULQ0 STRP2_HUMAN STRIP2 Striatin-interacting protein 2 834 95.4 7 Cytoplasm 0 0 0 1 5 2005-07-19 Q9ULW3 ABT1_HUMAN ABT1 Activator of basal transcription 1 272 31.1 6 Nucleus 0 0 0 1 5 2006-05-02 Q9ULX5 RN112_HUMAN RNF112 RING finger protein 112 631 68.3 17 2.3.2.27 Membrane; Cytoplasm; Nucleus; Endosome; Cytoplasmic vesicle; Postsynaptic density; Perikaryon; Cell projection 2 0 0 1 5 2001-09-26 Q9ULZ9 MMP17_HUMAN MMP17 Matrix metalloproteinase-17 603 66.7 12 3.4.24.- Cell membrane; Secreted 0 0 0 1 5 2001-01-24 Q9UMQ3 BARX2_HUMAN BARX2 Homeobox protein BarH-like 2 279 31.2 11 Nucleus 0 0 0 1 5 2001-04-27 Q9UMR3 TBX20_HUMAN TBX20 T-box transcription factor TBX20 447 49.2 7 Nucleus 0 1 Atrial septal defect 4 0 1 5 2000-12-01 Q9UMS6 SYNP2_HUMAN SYNPO2 Synaptopodin-2 1093 117.5 4 Nucleus; Cytoplasm; Cell junction 0 0 0 1 5 2004-08-31 Q9UMX6 GUC1B_HUMAN GUCA1B Guanylyl cyclase-activating protein 2 200 23.4 6 Cell membrane; Photoreceptor inner segment; Cell projection 0 1 Retinitis pigmentosa 48 0 1 5 2000-12-01 Q9UN66 PCDB8_HUMAN PCDHB8 Protocadherin beta-8 801 87.6 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9UNI1 CELA1_HUMAN CELA1 Chymotrypsin-like elastase family member 1 258 27.8 12 3.4.21.36 Secreted 0 0 0 1 5 2001-10-18 Q9UNK9 ANGE1_HUMAN ANGEL1 RNA 2',3'-cyclic phosphatase ANGEL1 670 75.3 14 3.-.-.- Mitochondrion outer membrane; Golgi apparatus; Endoplasmic reticulum 0 0 0 1 5 2001-11-02 Q9UNN4 TF2AY_HUMAN GTF2A1L TFIIA-alpha and beta-like factor 478 52.4 2 Nucleus 0 0 0 1 5 2001-02-21 Q9UNY4 TTF2_HUMAN TTF2 Transcription termination factor 2 1162 129.6 1 3.6.4.- Cytoplasm; Nucleus 0 0 0 1 5 2005-08-30 Q9UP79 ATS8_HUMAN ADAMTS8 A disintegrin and metalloproteinase with thrombospondin motifs 8 889 96.5 11 3.4.24.- Secreted 0 0 0 1 5 2000-12-01 Q9UPE1 SRPK3_HUMAN SRPK3 SRSF protein kinase 3 567 62 X 2.7.11.1 Nucleus; Cytoplasm 0 1 Intellectual developmental disorder, X-linked 114 0 1 5 2001-02-21 Q9UPM6 LHX6_HUMAN LHX6 LIM/homeobox protein Lhx6 363 40 9 Nucleus 0 0 0 1 5 2000-05-30 Q9UPM9 B9D1_HUMAN B9D1 B9 domain-containing protein 1 204 22.8 17 Cytoplasm 0 2 Meckel syndrome 9; Joubert syndrome 27 0 1 5 2007-10-23 Q9UPP2 IQEC3_HUMAN IQSEC3 IQ motif and SEC7 domain-containing protein 3 1182 127.6 12 Cytoplasm; Postsynaptic density 0 0 0 1 5 2006-07-11 Q9UPQ8 DOLK_HUMAN DOLK Dolichol kinase 538 59.3 9 2.7.1.108 Endoplasmic reticulum membrane 15 1 Congenital disorder of glycosylation 1M 0 1 5 2002-01-31 Q9UPT9 UBP22_HUMAN USP22 Ubiquitin carboxyl-terminal hydrolase 22 525 60 17 3.4.19.12 Nucleus; Cytoplasm 0 0 0 1 5 2002-03-27 Q9UPW5 CBPC1_HUMAN AGTPBP1 Cytosolic carboxypeptidase 1 1226 138.4 9 3.4.17.-, 3.4.17.24 Cytoplasm; Nucleus; Mitochondrion 0 1 Neurodegeneration, childhood-onset, with cerebellar atrophy 0 1 5 2007-10-23 Q9UQB3 CTND2_HUMAN CTNND2 Catenin delta-2 1225 132.7 5 Nucleus; Cell junction; Cell projection; Perikaryon 0 0 0 1 5 2002-04-16 Q9Y256 FACE2_HUMAN RCE1 CAAX prenyl protease 2 329 35.8 11 3.4.26.1 Endoplasmic reticulum membrane 7 0 0 1 5 2001-04-27 Q9Y267 S22AE_HUMAN SLC22A14 Solute carrier family 22 member 14 594 66.7 3 Mitochondrion inner membrane; Cell projection 12 0 0 1 5 2006-04-04 Q9Y272 RASD1_HUMAN RASD1 Dexamethasone-induced Ras-related protein 1 281 31.6 17 Cell membrane; Cytoplasm; Nucleus 0 0 0 1 5 2003-10-31 Q9Y274 SIA10_HUMAN ST3GAL6 Type 2 lactosamine alpha-2,3-sialyltransferase 331 38.2 3 2.4.3.6 Golgi apparatus membrane 1 0 0 1 5 2004-07-05 Q9Y276 BCS1_HUMAN BCS1L Mitochondrial chaperone BCS1 419 47.5 2 3.6.1.- Mitochondrion inner membrane 1 3 GRACILE syndrome; Mitochondrial complex III deficiency, nuclear type 1; Bjoernstad syndrome 0 1 5 2004-03-29 Q9Y278 HS3S2_HUMAN HS3ST2 Heparan sulfate glucosamine 3-O-sulfotransferase 2 367 41.5 16 2.8.2.29 Golgi apparatus membrane 1 0 0 1 5 2005-03-15 Q9Y282 ERGI3_HUMAN ERGIC3 Endoplasmic reticulum-Golgi intermediate compartment protein 3 383 43.2 20 Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus; Endoplasmic reticulum membrane 2 0 0 1 5 2003-10-24 Q9Y2B0 CNPY2_HUMAN CNPY2 Protein canopy homolog 2 182 20.7 12 Endoplasmic reticulum 0 0 0 1 5 2004-07-19 Q9Y2D0 CAH5B_HUMAN CA5B Carbonic anhydrase 5B, mitochondrial 317 36.4 X 4.2.1.1 Mitochondrion 0 0 0 1 5 2000-12-01 Q9Y2D2 S35A3_HUMAN SLC35A3 UDP-N-acetylglucosamine transporter 325 36 1 Golgi apparatus membrane 8 1 Arthrogryposis, impaired intellectual development, and seizures 0 1 5 2000-12-01 Q9Y2E5 MA2B2_HUMAN MAN2B2 Epididymis-specific alpha-mannosidase 1009 114 4 3.2.1.24 Secreted 0 1 Congenital disorder of glycosylation 1EE with or without immunodeficiency 0 1 5 2001-11-16 Q9Y2G0 EFR3B_HUMAN EFR3B Protein EFR3 homolog B 817 92.5 2 Cell membrane; Cytoplasm 0 0 0 1 5 2007-12-04 Q9Y2I6 NINL_HUMAN NINL Ninein-like protein 1382 156.3 20 Cytoplasm 0 0 0 1 5 2006-10-31 Q9Y2I8 WDR37_HUMAN WDR37 WD repeat-containing protein 37 494 54.7 10 Cytoplasm; Nucleus 0 1 Neurooculocardiogenitourinary syndrome 0 1 5 2001-06-20 Q9Y2K9 STB5L_HUMAN STXBP5L Syntaxin-binding protein 5-like 1186 131.9 3 Cytoplasm; Cell membrane; Membrane 0 0 0 1 5 2005-11-22 Q9Y2L5 TPPC8_HUMAN TRAPPC8 Trafficking protein particle complex subunit 8 1435 161 18 Golgi apparatus 0 0 0 1 5 2002-04-16 Q9Y2P4 S27A6_HUMAN SLC27A6 Long-chain fatty acid transport protein 6 619 70.1 5 Cell membrane 2 0 0 1 5 2005-11-22 Q9Y2V7 COG6_HUMAN COG6 Conserved oligomeric Golgi complex subunit 6 657 73.3 13 Golgi apparatus membrane 0 2 Congenital disorder of glycosylation 2L; Shaheen syndrome 0 1 5 2002-08-30 Q9Y2W3 S45A1_HUMAN SLC45A1 Proton-associated sugar transporter A 748 80.8 1 Lysosome membrane 12 1 Intellectual developmental disorder with neuropsychiatric features 0 1 5 2003-10-24 Q9Y2X9 ZN281_HUMAN ZNF281 Zinc finger protein 281 895 96.9 1 Nucleus 0 0 0 1 5 2001-02-21 Q9Y2Y8 PRG3_HUMAN PRG3 Proteoglycan 3 225 25.4 11 Cytoplasmic granule 0 0 0 1 5 2006-10-03 Q9Y342 PLLP_HUMAN PLLP Plasmolipin 182 20 16 Cell membrane; Myelin membrane; Apical cell membrane; Golgi apparatus 4 0 0 1 5 2000-12-01 Q9Y383 LC7L2_HUMAN LUC7L2 Putative RNA-binding protein Luc7-like 2 392 46.5 7 Nucleus speckle; Nucleus 0 0 0 1 5 2004-05-10 Q9Y3E0 GOT1B_HUMAN GOLT1B Vesicle transport protein GOT1B 138 15.4 12 Golgi apparatus membrane 4 0 0 1 5 2002-05-10 Q9Y3F4 STRAP_HUMAN STRAP Serine-threonine kinase receptor-associated protein 350 38.4 12 Cytoplasm; Nucleus 0 0 0 1 5 2000-12-01 Q9Y493 ZAN_HUMAN ZAN Zonadhesin 2812 305.6 7 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y4C0 NRX3A_HUMAN NRXN3 Neurexin-3 1643 180.6 14 Presynaptic cell membrane 1 0 0 1 5 2001-11-16 Q9Y4L1 HYOU1_HUMAN HYOU1 Hypoxia up-regulated protein 1 999 111.3 11 Endoplasmic reticulum lumen 0 1 Immunodeficiency 59 and hypoglycemia 0 1 5 2000-12-01 Q9Y548 YIPF1_HUMAN YIPF1 Protein YIPF1 306 34.3 1 Golgi apparatus; Late endosome membrane 5 0 0 1 5 2006-06-27 Q9Y561 LRP12_HUMAN LRP12 Low-density lipoprotein receptor-related protein 12 859 95 8 Membrane 1 2 Oculopharyngodistal myopathy 1; Amyotrophic lateral sclerosis 28 0 1 5 2002-11-15 Q9Y5F7 PCDGL_HUMAN PCDHGC4 Protocadherin gamma-C4 938 101.2 5 Cell membrane 1 1 Neurodevelopmental disorder with poor growth and skeletal anomalies 0 1 5 2003-10-24 Q9Y5H5 PCDA9_HUMAN PCDHA9 Protocadherin alpha-9 950 102.4 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5H9 PCDA2_HUMAN PCDHA2 Protocadherin alpha-2 948 102.1 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5J5 PHLA3_HUMAN PHLDA3 Pleckstrin homology-like domain family A member 3 127 13.9 1 Cytoplasm; Membrane 0 0 0 1 5 2005-12-20 Q9Y5K1 SPO11_HUMAN SPO11 Meiotic recombination protein SPO11 396 44.5 20 5.6.2.2 Chromosome; Nucleus 0 0 0 1 5 2000-05-30 Q9Y5Q3 MAFB_HUMAN MAFB Transcription factor MafB 323 35.8 20 Nucleus 0 2 Multicentric carpotarsal osteolysis syndrome; Duane retraction syndrome 3 with or without deafness 0 1 5 2002-07-11 Q9Y5Q5 CORIN_HUMAN CORIN Atrial natriuretic peptide-converting enzyme 1042 116.5 4 3.4.21.- Cell membrane 1 2 Pre-eclampsia/eclampsia 5; Cardiomyopathy, familial hypertrophic, 30, atrial 0 1 5 2001-04-27 Q9Y5R2 MMP24_HUMAN MMP24 Matrix metalloproteinase-24 645 73.2 20 3.4.24.- Cell membrane; Golgi apparatus 1 0 0 1 5 2001-01-24 Q9Y5R4 HEMK1_HUMAN HEMK1 MTRF1L release factor glutamine methyltransferase 338 38.2 3 2.1.1.297 Mitochondrion 0 0 0 1 5 2001-09-26 Q9Y5R8 TPPC1_HUMAN TRAPPC1 Trafficking protein particle complex subunit 1 145 16.8 17 Golgi apparatus; Endoplasmic reticulum 0 0 0 1 5 2002-04-16 Q9Y5X9 LIPG_HUMAN LIPG Endothelial lipase 500 56.8 18 3.1.1.3 Secreted 0 0 0 1 5 2002-07-26 Q9Y608 LRRF2_HUMAN LRRFIP2 Leucine-rich repeat flightless-interacting protein 2 721 82.2 3 0 0 0 1 5 2006-07-11 Q9Y619 ORNT1_HUMAN SLC25A15 Mitochondrial ornithine transporter 1 301 32.7 13 Mitochondrion inner membrane; Mitochondrion membrane 6 1 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 0 1 5 2002-02-11 Q9Y623 MYH4_HUMAN MYH4 Myosin-4 1939 223.1 17 Cytoplasm 0 0 0 1 5 2001-04-27 Q9Y6F9 WNT6_HUMAN WNT6 Protein Wnt-6 365 39.7 2 Secreted 0 0 0 1 5 2000-12-01 Q9Y6I7 WSB1_HUMAN WSB1 WD repeat and SOCS box-containing protein 1 421 47.4 17 0 0 0 1 5 2002-05-10 Q9Y6Q5 AP1M2_HUMAN AP1M2 AP-1 complex subunit mu-2 423 48.1 19 Golgi apparatus; Cytoplasmic vesicle 0 0 0 1 5 2001-02-21 Q9Y6T7 DGKB_HUMAN DGKB Diacylglycerol kinase beta 804 90.6 7 2.7.1.107 Postsynaptic cell membrane; Cell membrane; Cytoplasm 0 0 0 1 5 2001-01-11 Q9Y6X0 SETBP_HUMAN SETBP1 SET-binding protein 1596 175 18 Nucleus 0 6 Schinzel-Giedion midface retraction syndrome; Myelodysplastic syndrome; Intellectual developmental disorder, autosomal dominant 29; Leukemia, acute myelogenous; Leukemia, chronic myeloid, atypical; Leukemia, juvenile myelomonocytic 0 1 5 2004-04-13 Q9Y6X3 SCC4_HUMAN MAU2 MAU2 chromatid cohesion factor homolog 613 69.1 19 Nucleus; Chromosome 0 1 Cornelia de Lange syndrome 7 0 1 5 2006-10-31 Q9Y6Y8 S23IP_HUMAN SEC23IP SEC23-interacting protein 1000 111.1 10 Cytoplasmic vesicle; Endoplasmic reticulum 0 0 0 1 5 2004-11-09 A0A096LP01 SIM26_HUMAN SMIM26 Small integral membrane protein 26 95 10.9 20 Mitochondrion outer membrane 1 0 0 1 5 2017-07-05 A0A8I5KQE6 RPSA2_HUMAN RPSA2 Small ribosomal subunit protein uS2B 295 32.9 19 Cell membrane; Cytoplasm; Nucleus 0 0 0 1 5 2023-02-22 A0AV02 S12A8_HUMAN SLC12A8 Solute carrier family 12 member 8 714 78.2 3 Membrane 13 0 0 1 5 2007-10-02 A0MZ66 SHOT1_HUMAN SHTN1 Shootin-1 631 71.6 10 Perikaryon; Cell projection; Cytoplasm 0 0 0 1 5 2007-07-24 A1A4Y4 IRGM_HUMAN IRGM Immunity-related GTPase family M protein 181 20.1 5 3.6.5.- Golgi apparatus membrane; Cell membrane; Cytoplasmic vesicle; Lysosome membrane; Late endosome membrane; Mitochondrion membrane; Cell projection 0 1 Inflammatory bowel disease 19 0 1 5 2008-03-18 A1KXE4 F168B_HUMAN FAM168B Myelin-associated neurite-outgrowth inhibitor 195 20.3 2 Cytoplasm; Cell membrane; Cell projection 2 0 0 1 5 2008-03-18 A1KZ92 PXDNL_HUMAN PXDNL Probable oxidoreductase PXDNL 1463 163.7 8 1.-.-.- Secreted; Endoplasmic reticulum; Cell membrane 0 0 0 1 5 2008-04-29 A1L4K1 FSD2_HUMAN FSD2 Fibronectin type III and SPRY domain-containing protein 2 749 85.4 15 Nucleus; Sarcoplasmic reticulum; Cytoplasm 0 0 0 1 5 2008-02-05 A2A288 ZC12D_HUMAN ZC3H12D Probable ribonuclease ZC3H12D 527 58.1 6 3.1.-.- Cytoplasm 0 0 0 1 5 2008-09-02 A2PYH4 HFM1_HUMAN HFM1 Probable ATP-dependent DNA helicase HFM1 1435 162.6 1 5.6.2.4 0 1 Premature ovarian failure 9 0 1 5 2008-03-18 A4D1T9 PRS37_HUMAN PRSS37 Probable inactive serine protease 37 235 26.4 7 Cytoplasmic vesicle; Secreted 0 0 0 1 5 2008-03-18 A4D256 CC14C_HUMAN CDC14C Dual specificity protein phosphatase CDC14C 447 51.6 7 3.1.3.16, 3.1.3.48 Endoplasmic reticulum membrane 1 0 0 1 5 2008-01-15 A5D8W1 CFA69_HUMAN CFAP69 Cilia- and flagella-associated protein 69 941 105.9 7 Cell projection 0 1 Spermatogenic failure 24 0 1 5 2008-02-26 A6NFQ2 TCAF2_HUMAN TCAF2 TRPM8 channel-associated factor 2 919 100.9 7 Cell membrane 0 0 0 1 5 2008-02-26 A6NFX1 MFS2B_HUMAN MFSD2B Sphingosine-1-phosphate transporter MFSD2B 504 53.7 2 Cell membrane 10 0 0 1 5 2008-06-10 A6NHQ2 FBLL1_HUMAN FBLL1 RNA 2'-O-methyltransferase FBLL1 334 34.8 5 2.1.1.- Nucleus 0 0 0 1 5 2008-04-29 A6NIX2 WTIP_HUMAN WTIP Wilms tumor protein 1-interacting protein 430 45.1 19 Cell junction; Nucleus; Cytoplasm 0 0 0 1 5 2008-04-08 A6NK58 LIPT2_HUMAN LIPT2 Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial 231 25.2 11 Mitochondrion 0 1 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 0 1 5 2008-04-29 A6PVI3 NCB2L_HUMAN NCBP2L Nuclear cap-binding protein subunit 2-like 153 17.7 X 0 0 0 1 5 2007-09-11 A8K4G0 CLM7_HUMAN CD300LB CMRF35-like molecule 7 201 22.7 17 Cell membrane 1 0 0 1 5 2008-02-26 A8K8V0 ZN785_HUMAN ZNF785 Zinc finger protein 785 405 46.2 16 Nucleus 0 0 0 1 5 2008-07-22 A8MV65 VGLL3_HUMAN VGLL3 Transcription cofactor vestigial-like protein 3 326 36 3 Nucleus 0 0 0 1 5 2008-03-18 A8MXD5 GRCR1_HUMAN GRXCR1 Glutaredoxin domain-containing cysteine-rich protein 1 290 32.3 4 Cell projection 0 1 Deafness, autosomal recessive, 25 0 1 5 2008-09-02 A8MZ59 LEUTX_HUMAN LEUTX Paired-like homeodomain transcription factor LEUTX 198 22.4 19 Nucleus 0 0 0 1 5 2008-07-22 B2RUZ4 SMIM1_HUMAN SMIM1 Small integral membrane protein 1 78 8.7 1 Cell membrane 1 0 0 1 5 2008-12-16 B7ZAQ6 GPHRA_HUMAN GPHRA Golgi pH regulator A 455 52.9 1 Golgi apparatus membrane 9 0 0 1 5 2010-06-15 C0HME6 ALT36_HUMAN RPL36 RPL36 alternative reading frame protein 148 15.8 19 Endoplasmic reticulum 0 0 0 1 5 2026-01-28 C4AMC7 WASH3_HUMAN WASH3P Putative WAS protein family homolog 3 463 50 Early endosome; Early endosome membrane; Recycling endosome membrane; Cell projection; Cytoplasmic vesicle; Cytoplasm 0 0 0 1 5 2010-01-19 M0R2J8 DCDC1_HUMAN DCDC1 Doublecortin domain-containing protein 1 1783 200.6 11 Midbody; Cytoplasm 0 0 0 1 5 2019-01-16 O00124 UBXN8_HUMAN UBXN8 UBX domain-containing protein 8 270 30.5 8 Endoplasmic reticulum membrane 2 0 0 1 5 1998-07-15 O00270 GPR31_HUMAN GPR31 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor 319 35.1 6 Cell membrane 7 0 0 1 5 1998-07-15 O00339 MATN2_HUMAN MATN2 Matrilin-2 956 106.8 8 Secreted 0 0 0 1 5 2000-05-30 O00469 PLOD2_HUMAN PLOD2 Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 737 84.7 3 1.14.11.4 Rough endoplasmic reticulum membrane; Cytoplasm 0 1 Bruck syndrome 2 0 1 5 1998-12-15 O00471 EXOC5_HUMAN EXOC5 Exocyst complex component 5 708 81.9 14 Cytoplasm; Midbody 0 0 0 1 5 2002-10-25 O00476 NPT4_HUMAN SLC17A3 Sodium-dependent phosphate transport protein 4 420 46.1 6 Endoplasmic reticulum membrane 8 0 0 1 5 1998-07-15 O00623 PEX12_HUMAN PEX12 Peroxisome assembly protein 12 359 40.8 17 Peroxisome membrane 5 3 Peroxisome biogenesis disorder complementation group 3; Peroxisome biogenesis disorder 3A; Peroxisome biogenesis disorder 3B 0 1 5 1998-07-15 O00626 CCL22_HUMAN CCL22 C-C motif chemokine 22 93 10.6 16 Secreted 0 0 0 1 5 1999-07-15 O00628 PEX7_HUMAN PEX7 Peroxisomal targeting signal 2 receptor 323 35.9 6 Cytoplasm; Peroxisome matrix 0 3 Peroxisome biogenesis disorder complementation group 11; Rhizomelic chondrodysplasia punctata 1; Peroxisome biogenesis disorder 9B 0 1 5 1998-07-15 O00754 MA2B1_HUMAN MAN2B1 Lysosomal alpha-mannosidase 1011 113.7 19 3.2.1.24 Lysosome lumen; Secreted 0 1 Mannosidosis, alpha B, lysosomal 0 1 5 1998-07-15 O14512 SOCS7_HUMAN SOCS7 Suppressor of cytokine signaling 7 581 63 17 Cytoplasm; Nucleus; Cell membrane 0 0 0 1 5 2002-04-16 O14525 ASTN1_HUMAN ASTN1 Astrotactin-1 1302 144.9 1 Cell membrane; Perikaryon; Endosome; Cytoplasmic vesicle 2 0 0 1 5 2000-12-01 O14627 CDX4_HUMAN CDX4 Homeobox protein CDX-4 284 30.5 X Nucleus 0 0 0 1 5 1998-07-15 O14787 TNPO2_HUMAN TNPO2 Transportin-2 897 101.4 19 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 1 5 2004-03-15 O14829 PPE1_HUMAN PPEF1 Serine/threonine-protein phosphatase with EF-hands 1 653 75.8 X 3.1.3.16 0 0 0 1 5 2001-01-11 O14830 PPE2_HUMAN PPEF2 Serine/threonine-protein phosphatase with EF-hands 2 753 86.5 4 3.1.3.16 Cytoplasm; Cell projection; Photoreceptor inner segment 0 0 0 1 5 2001-01-11 O14880 MGST3_HUMAN MGST3 Glutathione S-transferase 3, mitochondrial 152 16.5 1 2.5.1.- Mitochondrion outer membrane 3 0 0 1 5 2000-05-30 O14948 TFEC_HUMAN TFEC Transcription factor EC 347 38.8 7 Nucleus 0 0 0 1 5 2008-01-15 O14950 ML12B_HUMAN MYL12B Myosin regulatory light chain 12B 172 19.8 18 0 0 0 1 5 2008-09-02 O15015 ZN646_HUMAN ZNF646 Zinc finger protein 646 1832 200.8 16 Nucleus 0 0 0 1 5 2001-06-20 O15041 SEM3E_HUMAN SEMA3E Semaphorin-3E 775 89.2 7 Secreted 0 0 0 1 5 2000-05-30 O15049 N4BP3_HUMAN N4BP3 NEDD4-binding protein 3 544 60.5 5 Cytoplasmic vesicle; Cell projection 0 0 0 1 5 1999-07-15 O15068 MCF2L_HUMAN MCF2L Guanine nucleotide exchange factor DBS 1137 128.1 13 Cytoplasm; Cell membrane 0 0 0 1 5 1999-07-15 O15083 ERC2_HUMAN ERC2 ERC protein 2 957 110.6 3 Cytoplasm; Synapse; Presynaptic active zone 0 0 0 1 5 2004-08-31 O15084 ANR28_HUMAN ANKRD28 Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A 1053 113 3 Nucleus; Cytoplasm; Cell projection 0 0 0 1 5 2001-06-20 O15126 SCAM1_HUMAN SCAMP1 Secretory carrier-associated membrane protein 1 338 37.9 5 Golgi apparatus; Recycling endosome membrane 4 0 0 1 5 1998-12-15 O15173 PGRC2_HUMAN PGRMC2 Membrane-associated progesterone receptor component 2 223 23.8 4 Membrane; Nucleus envelope; Endoplasmic reticulum; Secreted 1 0 0 1 5 2000-05-30 O15218 ACKR5_HUMAN ACKR5 Atypical chemokine receptor 5 404 45.3 12 Cell membrane; Endosome membrane 7 0 0 1 5 2000-12-01 O15228 GNPAT_HUMAN GNPAT Dihydroxyacetone phosphate acyltransferase 680 77.2 1 2.3.1.42 Peroxisome membrane 0 1 Rhizomelic chondrodysplasia punctata 2 0 1 5 1998-12-15 O15397 IPO8_HUMAN IPO8 Importin-8 1037 119.9 12 Cytoplasm; Nucleus 0 1 VISS syndrome 0 1 5 2004-03-15 O15444 CCL25_HUMAN CCL25 C-C motif chemokine 25 150 16.6 19 Secreted 0 0 0 1 5 1998-07-15 O15523 DDX3Y_HUMAN DDX3Y ATP-dependent RNA helicase DDX3Y 660 73.2 Y 3.6.4.13 Cytoplasm; Nucleus 0 0 0 1 5 1999-07-15 O15524 SOCS1_HUMAN SOCS1 Suppressor of cytokine signaling 1 211 23.6 16 Nucleus; Cytoplasmic vesicle 0 1 Autoinflammatory syndrome, familial, with or without immunodeficiency 0 1 5 2002-04-16 O15528 CP27B_HUMAN CYP27B1 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial 508 56.5 12 1.14.15.18 Mitochondrion membrane 0 1 Rickets vitamin D-dependent 1A 0 1 5 1998-07-15 O15534 PER1_HUMAN PER1 Period circadian protein homolog 1 1290 136.2 17 Nucleus; Cytoplasm 0 0 0 1 5 1999-07-15 O43150 ASAP2_HUMAN ASAP2 Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 1006 111.7 2 Cytoplasm; Golgi apparatus; Cell membrane 0 0 0 1 5 2004-03-29 O43167 ZBT24_HUMAN ZBTB24 Zinc finger and BTB domain-containing protein 24 697 78.3 6 Nucleus 0 1 Immunodeficiency-centromeric instability-facial anomalies syndrome 2 0 1 5 2000-05-30 O43272 PROD_HUMAN PRODH Proline dehydrogenase 1, mitochondrial 600 68 22 1.5.5.2 Mitochondrion matrix 0 2 Hyperprolinemia 1; Schizophrenia 4 0 1 5 2000-05-30 O43281 EFS_HUMAN EFS Embryonal Fyn-associated substrate 561 58.8 14 0 0 0 1 5 2000-05-30 O43299 AP5Z1_HUMAN AP5Z1 AP-5 complex subunit zeta-1 807 88.6 7 Cytoplasm; Nucleus 0 1 Spastic paraplegia 48, autosomal recessive 0 1 5 2001-02-21 O43303 CP110_HUMAN CCP110 Centriolar coiled-coil protein of 110 kDa 1012 113.4 16 Cytoplasm 0 0 0 1 5 2001-02-21 O43306 ADCY6_HUMAN ADCY6 Adenylate cyclase type 6 1168 130.6 12 4.6.1.1 Cell membrane; Cell projection 12 1 Lethal congenital contracture syndrome 8 0 1 5 1999-07-15 O43320 FGF16_HUMAN FGF16 Fibroblast growth factor 16 207 23.8 X Secreted 0 1 Metacarpal 4-5 fusion 0 1 5 1999-07-15 O43379 WDR62_HUMAN WDR62 WD repeat-containing protein 62 1518 166 19 Nucleus; Cytoplasm 0 1 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 1 5 2007-04-03 O43399 TPD54_HUMAN TPD52L2 Tumor protein D54 206 22.2 20 0 0 0 1 5 2001-01-24 O43422 P52K_HUMAN THAP12 52 kDa repressor of the inhibitor of the protein kinase 761 87.7 11 0 0 0 1 5 2001-01-11 O43427 FIBP_HUMAN FIBP Acidic fibroblast growth factor intracellular-binding protein 364 41.9 11 Nucleus; Endomembrane system 0 1 Thauvin-Robinet-Faivre syndrome 0 1 5 2001-04-27 O43491 E41L2_HUMAN EPB41L2 Band 4.1-like protein 2 1005 112.6 6 Cytoplasm; Cell membrane 0 0 0 1 5 2001-12-05 O43506 ADA20_HUMAN ADAM20 Disintegrin and metalloproteinase domain-containing protein 20 726 81.6 14 3.4.24.- Membrane 1 0 0 2 5 2001-06-01 O43592 XPOT_HUMAN XPOT Exportin-T 962 110 12 Nucleus; Cytoplasm 0 0 0 1 5 2001-11-02 O43610 SPY3_HUMAN SPRY3 Protein sprouty homolog 3 288 31.2 X Cytoplasm 0 0 0 1 5 2001-02-21 O43670 ZN207_HUMAN ZNF207 BUB3-interacting and GLEBS motif-containing protein ZNF207 478 50.8 17 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 1999-07-15 O43687 AKA7A_HUMAN AKAP7 A-kinase anchor protein 7 isoforms alpha and beta 104 11.5 6 Lateral cell membrane 0 0 0 1 5 2000-05-30 O43716 GATC_HUMAN GATC Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial 136 15.1 12 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 42 0 1 5 2000-05-30 O43749 OR1F1_HUMAN OR1F1 Olfactory receptor 1F1 312 34.9 16 Cell membrane 7 0 0 2 5 2000-12-01 O43760 SNG2_HUMAN SYNGR2 Synaptogyrin-2 224 24.8 17 Cytoplasmic vesicle membrane; Cytoplasmic vesicle 4 0 0 1 5 2000-05-30 O43805 SSNA1_HUMAN SSNA1 Microtubule nucleation factor SSNA1 119 13.6 9 Nucleus; Cytoplasm; Midbody; Cell projection 0 0 0 1 5 2000-05-30 O43820 HYAL3_HUMAN HYAL3 Hyaluronidase-3 417 46.5 3 3.2.1.35 Secreted; Cell membrane; Cytoplasmic vesicle; Endoplasmic reticulum; Early endosome 0 0 0 1 5 2006-09-05 O43829 ZBT14_HUMAN ZBTB14 Zinc finger and BTB domain-containing protein 14 449 51 18 Nucleus 0 0 0 1 5 2002-01-31 O43852 CALU_HUMAN CALU Calumenin 315 37.1 7 Endoplasmic reticulum membrane; Golgi apparatus; Secreted; Melanosome; Sarcoplasmic reticulum lumen 0 0 0 1 5 1999-07-15 O43895 XPP2_HUMAN XPNPEP2 Xaa-Pro aminopeptidase 2 674 75.6 X 3.4.11.9 Cell membrane 0 1 Angioedema induced by ACE inhibitors 0 1 5 2002-11-15 O60243 H6ST1_HUMAN HS6ST1 Heparan-sulfate 6-O-sulfotransferase 1 411 48.2 2 2.8.2.- Membrane 1 1 Hypogonadotropic hypogonadism 15 with or without anosmia 0 1 5 2005-10-11 O60282 KIF5C_HUMAN KIF5C Kinesin heavy chain isoform 5C 957 109.5 2 3.6.4.- Cytoplasm; Cell projection 0 1 Cortical dysplasia, complex, with other brain malformations 2 0 1 5 2001-02-21 O60291 MGRN1_HUMAN MGRN1 E3 ubiquitin-protein ligase MGRN1 552 60.8 16 2.3.2.27 Early endosome 0 0 0 1 5 2006-07-25 O60292 SI1L3_HUMAN SIPA1L3 Signal-induced proliferation-associated 1-like protein 3 1781 194.6 19 Apical cell membrane 0 1 Cataract 45 0 1 5 2004-07-19 O60303 KATIP_HUMAN KATNIP Katanin-interacting protein 1618 180.9 16 Cytoplasm 0 1 Joubert syndrome 26 0 1 5 2008-01-15 O60304 ZN500_HUMAN ZNF500 Zinc finger protein 500 480 53.7 16 Nucleus 0 0 0 1 5 2004-01-16 O60312 AT10A_HUMAN ATP10A Phospholipid-transporting ATPase VA 1499 167.7 15 7.6.2.1 Cell membrane; Endoplasmic reticulum membrane 10 0 0 1 5 2000-05-30 O60423 AT8B3_HUMAN ATP8B3 Phospholipid-transporting ATPase IK 1300 146.8 19 7.6.2.1 Cytoplasmic vesicle; Endoplasmic reticulum membrane 10 0 0 1 5 2000-05-30 O60447 EVI5_HUMAN EVI5 Ecotropic viral integration site 5 protein homolog 810 92.9 1 Nucleus; Cytoplasm 0 0 0 1 5 2006-10-31 O60641 AP180_HUMAN SNAP91 Clathrin coat assembly protein AP180 907 92.5 6 Cell membrane; Membrane 0 0 0 1 5 2003-01-17 O60656 UD19_HUMAN UGT1A9 UDP-glucuronosyltransferase 1A9 530 59.9 2 2.4.1.17 Endoplasmic reticulum membrane 1 0 0 1 5 2003-04-11 O60662 KLH41_HUMAN KLHL41 Kelch-like protein 41 606 68 2 Cytoplasm; Cell projection; Sarcoplasmic reticulum membrane; Endoplasmic reticulum membrane 0 1 Nemaline myopathy 9 0 1 5 2001-06-01 O60663 LMX1B_HUMAN LMX1B LIM homeobox transcription factor 1-beta 402 44.9 9 Nucleus 0 2 Nail-patella syndrome; Focal segmental glomerulosclerosis 10 0 1 5 1998-12-15 O60675 MAFK_HUMAN MAFK Transcription factor MafK 156 17.5 7 Nucleus 0 0 0 1 5 2001-02-21 O60683 PEX10_HUMAN PEX10 Peroxisome biogenesis factor 10 326 37.1 1 2.3.2.27 Peroxisome membrane 5 3 Peroxisome biogenesis disorder complementation group 7; Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 0 1 5 1998-12-15 O60733 PLPL9_HUMAN PLA2G6 85/88 kDa calcium-independent phospholipase A2 806 89.9 22 3.1.1.4 Cytoplasm; Cell membrane; Mitochondrion; Cell projection 2 3 Neurodegeneration with brain iron accumulation 2B; Neurodegeneration with brain iron accumulation 2A; Parkinson disease 14 0 1 5 2000-05-30 O60755 GALR3_HUMAN GALR3 Galanin receptor type 3 368 39.6 22 Cell membrane 7 0 0 1 5 1999-07-15 O60840 CAC1F_HUMAN CACNA1F Voltage-dependent L-type calcium channel subunit alpha-1F 1977 220.7 X Membrane 24 3 Night blindness, congenital stationary, 2A; Cone-rod dystrophy, X-linked 3; Aaland island eye disease 0 1 5 1999-07-15 O60883 G37L1_HUMAN GPR37L1 G protein-coupled receptor 37-like 1 481 52.8 1 Cell membrane; Cell projection 7 0 0 1 5 2001-01-11 O60902 SHOX2_HUMAN SHOX2 Short stature homeobox protein 2 331 35 3 Nucleus 0 0 0 1 5 2001-09-26 O75023 LIRB5_HUMAN LILRB5 Leukocyte immunoglobulin-like receptor subfamily B member 5 590 64.1 19 Membrane 1 0 0 1 5 2003-10-03 O75037 KI21B_HUMAN KIF21B Kinesin-like protein KIF21B 1637 182.7 1 Cytoplasm; Cell projection; Cytoplasmic vesicle 0 0 0 1 5 2004-07-19 O75038 PLCH2_HUMAN PLCH2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2 1416 154.7 1 3.1.4.11 Cytoplasm; Cell membrane 0 0 0 1 5 2001-02-21 O75063 XYLK_HUMAN FAM20B Glycosaminoglycan xylosylkinase 409 46.4 1 2.7.1.- Golgi apparatus membrane 1 0 0 1 5 2003-09-19 O75078 ADA11_HUMAN ADAM11 Disintegrin and metalloproteinase domain-containing protein 11 769 83.4 17 Presynaptic cell membrane; Perikaryon; Cell projection 1 0 0 1 5 2001-06-01 O75127 PTCD1_HUMAN PTCD1 Pentatricopeptide repeat-containing protein 1, mitochondrial 700 78.9 7 Mitochondrion; Mitochondrion matrix 0 0 0 1 5 2005-03-29 O75145 LIPA3_HUMAN PPFIA3 Liprin-alpha-3 1194 133.5 19 Cytoplasm; Cytoplasmic vesicle 0 1 Paul-Chao neurodevelopmental syndrome 0 1 5 2004-02-16 O75152 ZC11A_HUMAN ZC3H11A Zinc finger CCCH domain-containing protein 11A 810 89.1 1 Nucleus; Nucleus speckle 0 0 0 1 5 2005-08-16 O75165 DJC13_HUMAN DNAJC13 DnaJ homolog subfamily C member 13 2243 254.4 3 Early endosome; Early endosome membrane; Endosome membrane 0 1 Parkinson disease 0 1 5 2004-04-13 O75167 PHAR2_HUMAN PHACTR2 Phosphatase and actin regulator 2 634 69.7 6 Membrane 0 0 0 1 5 2003-05-09 O75192 PX11A_HUMAN PEX11A Peroxisomal membrane protein 11A 247 28.4 15 Peroxisome membrane 2 0 0 1 5 2005-04-26 O75197 LRP5_HUMAN LRP5 Low-density lipoprotein receptor-related protein 5 1615 179.1 11 Membrane; Endoplasmic reticulum 1 9 Vitreoretinopathy, exudative 1; Vitreoretinopathy, exudative 4; Osteoporosis; Osteoporosis-pseudoglioma syndrome; High bone mass trait; Endosteal hyperostosis, Worth type; Osteopetrosis, autosomal dominant 1; Van Buchem disease 2; Polycystic liver disease 4 with or without kidney cysts 0 1 5 2004-05-10 O75414 NDK6_HUMAN NME6 Nucleoside diphosphate kinase 6, mitochondrial 186 21.1 3 2.7.4.6 Mitochondrion matrix; Mitochondrion inner membrane; Mitochondrion 0 0 0 1 5 2001-01-11 O75445 USH2A_HUMAN USH2A Usherin 5202 575.6 1 Cell projection 1 2 Usher syndrome 2A; Retinitis pigmentosa 39 0 1 5 2006-04-04 O75556 SG2A1_HUMAN SCGB2A1 Mammaglobin-B 95 10.9 11 Secreted 0 0 0 1 5 2000-05-30 O75602 SPAG6_HUMAN SPAG6 Sperm-associated antigen 6 509 55.5 10 Cytoplasm; Cell projection 0 0 0 1 5 2005-04-26 O75631 UPK3A_HUMAN UPK3A Uroplakin-3a 287 30.7 22 Endoplasmic reticulum membrane 1 0 0 1 5 2000-05-30 O75783 RHBL1_HUMAN RHBDL1 Rhomboid-related protein 1 438 48.3 16 3.4.21.105 Membrane 7 0 0 1 5 2002-03-05 O75840 KLF7_HUMAN KLF7 Krueppel-like factor 7 302 33.4 2 Nucleus 0 0 0 1 5 1999-07-15 O75871 CEAM4_HUMAN CEACAM4 Cell adhesion molecule CEACAM4 244 25.9 19 Membrane 1 0 0 1 5 2008-02-05 O75911 DHRS3_HUMAN DHRS3 Short-chain dehydrogenase/reductase 3 302 33.5 1 1.1.1.300 Membrane 4 1 Craniosynostosis-scoliosis syndrome 0 1 5 2004-05-10 O75912 DGKI_HUMAN DGKI Diacylglycerol kinase iota 1057 116.2 7 2.7.1.107 Cell projection; Presynapse; Postsynapse; Postsynaptic density; Synaptic cell membrane; Cytoplasmic vesicle; Cytoplasm; Nucleus 0 0 0 1 5 2001-01-11 O76011 KRT34_HUMAN KRT34 Keratin, type I cuticular Ha4 394 44.7 17 0 0 0 1 5 2000-05-30 O76015 KRT38_HUMAN KRT38 Keratin, type I cuticular Ha8 456 50.5 17 0 0 0 1 5 2000-05-30 O94777 DPM2_HUMAN DPM2 Dolichol phosphate-mannose biosynthesis regulatory protein 84 9.3 9 Endoplasmic reticulum membrane 2 1 Congenital disorder of glycosylation 1U 0 1 5 2000-05-30 O94778 AQP8_HUMAN AQP8 Aquaporin-8 261 27.4 16 Cell membrane; Mitochondrion inner membrane; Apical cell membrane; Basolateral cell membrane; Smooth endoplasmic reticulum membrane 6 0 0 1 5 1999-07-15 O94830 DDHD2_HUMAN DDHD2 Triacylglycerol hydrolase DDHD2 711 81 8 3.1.1.3 Cytoplasm; Endoplasmic reticulum-Golgi intermediate compartment; Golgi apparatus 0 1 Spastic paraplegia 54, autosomal recessive 0 1 5 2007-11-13 O94844 RHBT1_HUMAN RHOBTB1 Rho-related BTB domain-containing protein 1 696 79.4 10 3.6.5.2 0 0 0 1 5 2002-11-28 O94880 PHF14_HUMAN PHF14 PHD finger protein 14 948 107 7 Nucleus; Chromosome 0 0 0 1 5 2003-08-15 O94910 AGRL1_HUMAN ADGRL1 Adhesion G protein-coupled receptor L1 1474 162.7 19 Cell membrane; Cell projection; Synapse; Presynaptic cell membrane 7 1 Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 1 5 2004-04-26 O94933 SLIK3_HUMAN SLITRK3 SLIT and NTRK-like protein 3 977 108.9 3 Membrane 1 0 0 1 5 2001-06-20 O94955 RHBT3_HUMAN RHOBTB3 Rho-related BTB domain-containing protein 3 611 69.4 5 3.6.1.- Golgi apparatus 0 0 0 1 5 2002-11-28 O94973 AP2A2_HUMAN AP2A2 AP-2 complex subunit alpha-2 939 104 11 Cell membrane; Membrane 0 0 0 1 5 2001-01-24 O95159 ZFPL1_HUMAN ZFPL1 Zinc finger protein-like 1 310 34.1 11 Golgi apparatus 1 0 0 1 5 2004-07-05 O95171 SCEL_HUMAN SCEL Sciellin 688 77.6 13 Cytoplasm; Membrane 0 0 0 1 5 2002-01-23 O95201 RHIT_HUMAN ZNF205 Transcriptional repressor RHIT 554 60.6 16 Nucleus 0 0 0 1 5 1999-07-15 O95214 LERL1_HUMAN LEPROTL1 Leptin receptor overlapping transcript-like 1 131 14.4 8 Membrane 4 0 0 1 5 2000-05-30 O95219 SNX4_HUMAN SNX4 Sorting nexin-4 450 51.9 3 Early endosome membrane 0 0 0 1 5 2000-12-01 O95231 VENTX_HUMAN VENTX Homeobox protein VENTX 258 27.6 10 Nucleus 0 0 0 1 5 2007-10-02 O95236 APOL3_HUMAN APOL3 Apolipoprotein L3 402 44.3 22 Cytoplasm 0 0 0 1 5 2000-05-30 O95258 UCP5_HUMAN SLC25A14 Brain mitochondrial carrier protein 1 325 36.2 X Mitochondrion inner membrane 6 0 0 1 5 2000-05-30 O95379 TFIP8_HUMAN TNFAIP8 Tumor necrosis factor alpha-induced protein 8 198 23 5 Cytoplasm 0 0 0 1 5 2007-05-01 O95382 M3K6_HUMAN MAP3K6 Mitogen-activated protein kinase kinase kinase 6 1288 142.6 1 2.7.11.25 0 0 0 1 5 2000-05-30 O95406 CNIH1_HUMAN CNIH1 Protein cornichon homolog 1 144 16.7 14 Endoplasmic reticulum membrane; Golgi apparatus membrane 3 0 0 1 5 2000-05-30 O95428 PPN_HUMAN PAPLN Papilin 1278 137.7 14 Secreted 0 0 0 1 5 2008-03-18 O95436 NPT2B_HUMAN SLC34A2 Sodium-dependent phosphate transport protein 2B 690 75.8 4 Apical cell membrane 8 1 Pulmonary alveolar microlithiasis 0 1 5 2005-12-20 O95450 ATS2_HUMAN ADAMTS2 A disintegrin and metalloproteinase with thrombospondin motifs 2 1211 134.8 5 3.4.24.14 Secreted 0 1 Ehlers-Danlos syndrome, dermatosparaxis type 0 1 5 2000-12-01 O95455 TGDS_HUMAN TGDS UDP-D-glucose 4,6-dehydratase 350 40.2 13 4.2.1.76 Endoplasmic reticulum; Golgi apparatus 0 1 Catel-Manzke syndrome 0 1 5 2003-04-23 O95467 GNAS3_HUMAN GNAS Neuroendocrine secretory protein 55 245 28 20 Cytoplasmic vesicle; Secreted 0 2 ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism 1B 0 1 5 2006-10-17 O95600 KLF8_HUMAN KLF8 Krueppel-like factor 8 359 39.3 X Nucleus 0 0 0 1 5 2001-11-02 O95613 PCNT_HUMAN PCNT Pericentrin 3336 378 21 Cytoplasm 0 1 Microcephalic osteodysplastic primordial dwarfism 2 0 1 5 2000-05-30 O95754 SEM4F_HUMAN SEMA4F Semaphorin-4F 770 83.5 2 Cell membrane; Postsynaptic density; Perikaryon; Cell projection 1 0 0 1 5 2000-05-30 O95813 CER1_HUMAN CER1 Cerberus 267 30.1 9 Secreted 0 0 0 1 5 2005-04-12 O95816 BAG2_HUMAN BAG2 BAG family molecular chaperone regulator 2 211 23.8 6 0 0 0 1 5 2001-01-11 O95837 GNA14_HUMAN GNA14 Guanine nucleotide-binding protein subunit alpha-14 355 41.6 9 0 0 0 1 5 1999-07-15 O95859 TSN12_HUMAN TSPAN12 Tetraspanin-12 305 35.4 7 Cell membrane 4 1 Vitreoretinopathy, exudative 5 0 1 5 2000-12-01 O95867 LY66C_HUMAN LY6G6C Lymphocyte antigen 6 complex locus protein G6c 125 13.8 6 Cell membrane 0 0 0 1 5 2000-12-01 O95897 NOE2_HUMAN OLFM2 Noelin-2 454 51.4 19 Secreted; Synapse; Membrane; Nucleus; Cytoplasm 0 0 0 1 5 2001-02-21 O95900 TRUB2_HUMAN TRUB2 Pseudouridylate synthase TRUB2, mitochondrial 331 36.7 9 5.4.99.- Mitochondrion matrix 0 0 0 1 5 2006-10-03 O95947 TBX6_HUMAN TBX6 T-box transcription factor TBX6 436 47 16 Nucleus 0 1 Spondylocostal dysostosis 5 0 1 5 1999-07-15 O95972 BMP15_HUMAN BMP15 Bone morphogenetic protein 15 392 45.1 X Secreted 0 2 Ovarian dysgenesis 2; Premature ovarian failure 4 0 1 5 2000-12-01 O95988 TCL1B_HUMAN TCL1B T-cell leukemia/lymphoma protein 1B 128 14.8 14 0 0 0 1 5 2000-05-30 O96009 NAPSA_HUMAN NAPSA Napsin-A 420 45.4 19 3.4.23.- Secreted 0 0 0 1 5 2000-05-30 O96011 PX11B_HUMAN PEX11B Peroxisomal membrane protein 11B 259 28.4 1 Peroxisome membrane 1 1 Peroxisome biogenesis disorder 14B 0 1 5 2005-04-26 O96015 DNAL4_HUMAN DNAL4 Dynein axonemal light chain 4 105 12 22 Cytoplasm 0 1 Mirror movements 3 0 1 5 2002-06-20 P00739 HPTR_HUMAN HPR Haptoglobin-related protein 348 39 16 Secreted 0 0 0 1 5 1986-07-21 P01036 CYTS_HUMAN CST4 Cystatin-S 141 16.2 20 Secreted 0 0 0 1 5 1986-07-21 P01229 LSHB_HUMAN LHB Lutropin subunit beta 141 15.3 19 Secreted 0 1 Hypogonadotropic hypogonadism 23 with or without anosmia 0 1 5 1986-07-21 P01699 LV144_HUMAN IGLV1-44 Immunoglobulin lambda variable 1-44 117 12.2 22 Secreted; Cell membrane 0 0 0 1 5 1986-07-21 P01742 HV169_HUMAN IGHV1-69 Immunoglobulin heavy variable 1-69 117 12.7 14 Secreted; Cell membrane 0 0 0 1 5 1986-07-21 P01814 HV270_HUMAN IGHV2-70 Immunoglobulin heavy variable 2-70 119 13.3 14 Secreted; Cell membrane 0 0 0 1 5 1986-07-21 P01893 HLAH_HUMAN HLA-H Putative HLA class I histocompatibility antigen, alpha chain H 362 40.9 Cell membrane 1 0 0 5 5 1986-07-21 P01906 DQA2_HUMAN HLA-DQA2 HLA class II histocompatibility antigen, DQ alpha 2 chain 255 28 6 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endosome membrane; Lysosome membrane 1 0 0 1 5 1986-07-21 P02652 APOA2_HUMAN APOA2 Apolipoprotein A-II 100 11.2 1 Secreted 0 1 Apolipoprotein A-II deficiency 0 1 5 1986-07-21 P02790 HEMO_HUMAN HPX Hemopexin 462 51.7 11 Secreted 0 0 0 1 5 1986-07-21 P04118 COL_HUMAN CLPS Colipase 112 12 6 Secreted 0 0 0 1 5 1986-11-01 P04217 A1BG_HUMAN A1BG Alpha-1B-glycoprotein 495 54.3 19 Secreted 0 0 0 1 5 1987-03-20 P04280 PRP1_HUMAN PRB1 Basic salivary proline-rich protein 1 392 38.6 Secreted 0 0 0 1 5 1987-03-20 P04553 HSP1_HUMAN PRM1 Sperm protamine P1 51 6.8 16 Nucleus; Chromosome 0 0 0 1 5 1987-08-13 P04732 MT1E_HUMAN MT1E Metallothionein-1E 61 6 16 0 0 0 1 5 1987-08-13 P05060 SCG1_HUMAN CHGB Secretogranin-1 677 78.3 20 Secreted 0 0 0 1 5 1987-08-13 P05141 ADT2_HUMAN SLC25A5 ADP/ATP translocase 2 298 32.9 X Mitochondrion inner membrane; Membrane 6 0 0 1 5 1987-08-13 P05538 DQB2_HUMAN HLA-DQB2 HLA class II histocompatibility antigen, DQ beta 2 chain 268 30.4 6 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endosome membrane; Lysosome membrane 1 0 0 1 5 1988-11-01 P07196 NFL_HUMAN NEFL Neurofilament light polypeptide 543 61.5 8 Cell projection; Cytoplasm 0 3 Charcot-Marie-Tooth disease, demyelinating, type 1F; Charcot-Marie-Tooth disease, axonal, type 2E; Charcot-Marie-Tooth disease, dominant intermediate G 0 1 5 1988-04-01 P08247 SYPH_HUMAN SYP Synaptophysin 313 33.8 X Cytoplasmic vesicle; Synapse 4 1 Intellectual developmental disorder, X-linked 96 0 1 5 1988-08-01 P08697 A2AP_HUMAN SERPINF2 Alpha-2-antiplasmin 491 54.6 17 Secreted 0 1 Alpha-2-plasmin inhibitor deficiency 0 1 5 1988-01-01 P09067 HXB5_HUMAN HOXB5 Homeobox protein Hox-B5 269 29.4 17 Nucleus 0 0 0 1 5 1988-11-01 P09430 STP1_HUMAN TNP1 Spermatid nuclear transition protein 1 55 6.4 2 Nucleus; Chromosome 0 0 0 1 5 1989-07-01 P09497 CLCB_HUMAN CLTB Clathrin light chain B 229 25.2 5 Cytoplasmic vesicle membrane; Membrane 0 0 0 1 5 1989-07-01 P09564 CD7_HUMAN CD7 T-cell antigen CD7 240 25.4 17 Membrane 1 0 0 1 5 1989-07-01 P09629 HXB7_HUMAN HOXB7 Homeobox protein Hox-B7 217 24 17 Nucleus 0 0 0 1 5 1989-07-01 P0C0P6 NPS_HUMAN NPS Neuropeptide S 89 10.1 10 Secreted 0 0 0 1 5 2005-11-22 P0C7T5 ATX1L_HUMAN ATXN1L Ataxin-1-like 689 73.3 16 Nucleus; Cell projection 0 0 0 1 5 2008-07-22 P0C7U0 ELFN1_HUMAN ELFN1 Protein ELFN1 828 90.5 7 Membrane; Cell projection 1 1 Dursun-Ozgul neurodevelopmental syndrome 0 1 5 2008-07-22 P0C7X2 ZN688_HUMAN ZNF688 Zinc finger protein 688 276 30.6 16 Nucleus 0 0 0 1 5 2008-07-22 P0DJD9 PEPA5_HUMAN PGA5 Pepsin A-5 388 42 11 3.4.23.1 Secreted 0 0 0 1 5 2012-02-22 P0DME0 SETLP_HUMAN SETSIP Protein SETSIP 292 33.6 1 Cytoplasm; Nucleus 0 0 0 1 5 2014-04-16 P0DMS9 TMIG3_HUMAN TMIGD3 Transmembrane domain-containing protein TMIGD3 266 30.3 1 Membrane 2 0 0 1 5 2015-04-01 P0DPB3 SCHI1_HUMAN SCHIP1 Schwannomin-interacting protein 1 487 53.5 3 Cytoplasm 0 0 0 1 5 2017-11-22 P0DPD6 ECE2_HUMAN ECE2 Endothelin-converting enzyme 2 811 91.2 3 3.4.24.71 Golgi apparatus membrane; Cytoplasmic vesicle 1 0 0 1 5 2018-02-28 P0DPD8 EFCE2_HUMAN EEF1AKMT4-ECE2 EEF1AKMT4-ECE2 readthrough transcript protein 883 99.8 3 3.4.24.71 Golgi apparatus membrane; Cytoplasmic vesicle 1 0 0 1 5 2018-02-28 P0DTE8 AMY1C_HUMAN AMY1C Alpha-amylase 1C 511 57.8 1 3.2.1.1 Secreted 0 0 0 1 5 2020-10-07 P10265 VPK10_HUMAN ERVK-10 Endogenous retrovirus group K member 10 Pro protein 156 17.1 0 0 0 1 5 1989-07-01 P12236 ADT3_HUMAN SLC25A6 ADP/ATP translocase 3 298 32.9 X Mitochondrion inner membrane; Membrane 6 0 0 1 5 1989-10-01 P13056 NR2C1_HUMAN NR2C1 Nuclear receptor subfamily 2 group C member 1 603 67.3 12 Nucleus 0 0 0 1 5 1990-01-01 P14373 TRI27_HUMAN TRIM27 Zinc finger protein RFP 513 58.5 6 2.3.2.27 Nucleus; Cytoplasm; Early endosome; Mitochondrion 0 0 0 1 5 1990-01-01 P14415 AT1B2_HUMAN ATP1B2 Sodium/potassium-transporting ATPase subunit beta-2 290 33.4 17 Cell membrane 1 0 0 1 5 1990-01-01 P15407 FOSL1_HUMAN FOSL1 Fos-related antigen 1 271 29.4 11 Nucleus 0 0 0 1 5 1990-04-01 P15408 FOSL2_HUMAN FOSL2 Fos-related antigen 2 326 35.2 2 Nucleus 0 1 Aplasia cutis-enamel dysplasia 0 1 5 1990-04-01 P15516 HIS3_HUMAN HTN3 Histatin-3 51 6.1 4 Secreted 0 0 0 1 5 1990-04-01 P15586 GNS_HUMAN GNS N-acetylglucosamine-6-sulfatase 552 62.1 12 3.1.6.14 Lysosome 0 1 Mucopolysaccharidosis 3D 0 1 5 1990-04-01 P15863 PAX1_HUMAN PAX1 Paired box protein Pax-1 534 55.5 20 Nucleus 0 1 Otofaciocervical syndrome 2, with T-cell deficiency 0 1 5 1990-04-01 P16520 GBB3_HUMAN GNB3 Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 340 37.2 12 0 1 Night blindness, congenital stationary, 1H 0 1 5 1990-08-01 P16619 CL3L1_HUMAN CCL3L1 C-C motif chemokine 3-like 1 93 10.2 17 Secreted 0 0 0 1 5 1990-08-01 P17024 ZNF20_HUMAN ZNF20 Zinc finger protein 20 532 61.6 19 Nucleus 0 0 0 1 5 1990-08-01 P17482 HXB9_HUMAN HOXB9 Homeobox protein Hox-B9 250 28.1 17 Nucleus 0 0 0 1 5 1990-08-01 P17600 SYN1_HUMAN SYN1 Synapsin-1 705 74.1 X Synapse; Golgi apparatus; Presynapse; Cytoplasmic vesicle 0 2 Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders; Intellectual developmental disorder, X-linked 50 0 1 5 1990-08-01 P17661 DESM_HUMAN DES Desmin 470 53.5 2 Cytoplasm; Cell membrane; Nucleus; Cell tip; Nucleus envelope 0 3 Myopathy, myofibrillar, 1; Cardiomyopathy, dilated, 1I; Neurogenic scapuloperoneal syndrome Kaeser type 0 1 5 1990-08-01 P18850 ATF6A_HUMAN ATF6 Cyclic AMP-dependent transcription factor ATF-6 alpha 670 74.6 1 Endoplasmic reticulum membrane; Golgi apparatus membrane 1 1 Achromatopsia 7 0 1 5 1990-11-01 P19075 TSN8_HUMAN TSPAN8 Tetraspanin-8 237 26 12 Cell membrane 4 0 0 1 5 1990-11-01 P19526 FUT1_HUMAN FUT1 Galactoside alpha-(1,2)-fucosyltransferase 1 365 41.3 19 Golgi apparatus 1 0 0 1 5 1991-02-01 P20719 HXA5_HUMAN HOXA5 Homeobox protein Hox-A5 270 29.3 7 Nucleus 0 0 0 1 5 1991-02-01 P20742 PZP_HUMAN PZP Pregnancy zone protein 1482 163.9 12 Secreted 0 0 0 1 5 1991-02-01 P20916 MAG_HUMAN MAG Myelin-associated glycoprotein 626 69.1 19 Cell membrane; Membrane raft 1 1 Spastic paraplegia 75, autosomal recessive 0 1 5 1991-02-01 P21108 PRPS3_HUMAN PRPS1L1 Ribose-phosphate pyrophosphokinase 3 318 34.8 7 2.7.6.1 0 0 0 1 5 1991-02-01 P21941 MATN1_HUMAN MATN1 Matrilin-1 496 53.7 1 Secreted 0 0 0 1 5 1991-05-01 P22079 PERL_HUMAN LPO Lactoperoxidase 712 80.3 17 1.11.1.7 Secreted; Cytoplasm 0 0 0 1 5 1991-08-01 P22310 UD14_HUMAN UGT1A4 UDP-glucuronosyltransferase 1A4 534 60 2 2.4.1.17 Endoplasmic reticulum membrane 1 0 0 1 5 1991-08-01 P23142 FBLN1_HUMAN FBLN1 Fibulin-1 703 77.2 22 Secreted 0 0 0 1 5 1991-11-01 P23515 OMGP_HUMAN OMG Oligodendrocyte-myelin glycoprotein 440 49.6 17 Cell membrane 0 0 0 1 5 1991-11-01 P23763 VAMP1_HUMAN VAMP1 Vesicle-associated membrane protein 1 118 12.9 12 Cytoplasmic vesicle; Synapse 1 2 Spastic ataxia 1, autosomal dominant; Myasthenic syndrome, congenital, 25, presynaptic 0 1 5 1991-11-01 P24310 CX7A1_HUMAN COX7A1 Cytochrome c oxidase subunit 7A1, mitochondrial 79 9.1 19 Mitochondrion inner membrane 1 0 0 1 5 1992-03-01 P24903 CP2F1_HUMAN CYP2F1 Cytochrome P450 2F1 491 55.5 19 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 0 1 5 1992-03-01 P25067 CO8A2_HUMAN COL8A2 Collagen alpha-2(VIII) chain 703 67.2 1 Secreted 0 2 Corneal dystrophy, Fuchs endothelial, 1; Corneal dystrophy, posterior polymorphous, 2 0 1 5 1992-05-01 P25391 LAMA1_HUMAN LAMA1 Laminin subunit alpha-1 3075 337.1 18 Secreted 0 1 Poretti-Boltshauser syndrome 0 1 5 1992-05-01 P26374 RAE2_HUMAN CHML Rab proteins geranylgeranyltransferase component A 2 656 74.1 1 Cytoplasm 0 0 0 1 5 1992-08-01 P26640 SYVC_HUMAN VARS1 Valine--tRNA ligase 1264 140.5 6 6.1.1.9 0 1 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 5 1992-08-01 P27824 CALX_HUMAN CANX Calnexin 592 67.6 5 Endoplasmic reticulum membrane; Mitochondrion membrane; Melanosome membrane 1 0 0 1 5 1992-08-01 P28300 LYOX_HUMAN LOX Protein-lysine 6-oxidase 417 46.9 5 1.4.3.13 Secreted 0 1 Aortic aneurysm, familial thoracic 10 0 1 5 1992-12-01 P29803 ODPAT_HUMAN PDHA2 Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial 388 42.9 4 1.2.4.1 Mitochondrion matrix 0 1 Spermatogenic failure 70 0 1 5 1993-04-01 P30532 ACHA5_HUMAN CHRNA5 Neuronal acetylcholine receptor subunit alpha-5 468 53.1 15 Synaptic cell membrane; Cell membrane 4 0 0 1 5 1993-04-01 P30679 GNA15_HUMAN GNA15 Guanine nucleotide-binding protein subunit alpha-15 374 43.5 19 0 0 0 1 5 1993-04-01 P30825 CTR1_HUMAN SLC7A1 High affinity cationic amino acid transporter 1 629 67.6 13 Cell membrane 14 0 0 1 5 1996-10-01 P31152 MK04_HUMAN MAPK4 Mitogen-activated protein kinase 4 587 65.9 18 2.7.11.24 Cytoplasm; Nucleus 0 0 0 1 5 1993-07-01 P31249 HXD3_HUMAN HOXD3 Homeobox protein Hox-D3 432 45.7 2 Nucleus 0 0 0 1 5 1993-07-01 P31513 FMO3_HUMAN FMO3 Flavin-containing monooxygenase 3 532 60 1 1.14.13.148, 1.14.13.32, 1.14.13.8 Microsome membrane; Endoplasmic reticulum membrane 1 1 Trimethylaminuria 0 1 5 1993-07-01 P31629 ZEP2_HUMAN HIVEP2 Transcription factor HIVEP2 2446 269.1 6 Nucleus 0 1 Intellectual developmental disorder, autosomal dominant 43 0 1 5 1993-07-01 P32242 OTX1_HUMAN OTX1 Homeobox protein OTX1 354 37.3 2 Nucleus 0 0 0 1 5 1993-10-01 P32302 CXCR5_HUMAN CXCR5 C-X-C chemokine receptor type 5 372 42 11 Cell membrane 7 0 0 1 5 1993-10-01 P33121 ACSL1_HUMAN ACSL1 Long-chain-fatty-acid--CoA ligase 1 698 77.9 4 6.2.1.3 Mitochondrion outer membrane; Peroxisome membrane; Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 1993-10-01 P33947 ERD22_HUMAN KDELR2 ER lumen protein-retaining receptor 2 212 24.4 7 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cytoplasmic vesicle 7 1 Osteogenesis imperfecta 21 0 1 5 1994-02-01 P35227 PCGF2_HUMAN PCGF2 Polycomb group RING finger protein 2 344 37.8 17 Nucleus 0 1 Turnpenny-Fry syndrome 0 1 5 1994-02-01 P35527 K1C9_HUMAN KRT9 Keratin, type I cytoskeletal 9 623 62.1 17 0 1 Palmoplantar keratoderma, epidermolytic, 1 0 1 5 1994-06-01 P35611 ADDA_HUMAN ADD1 Alpha-adducin 737 81 4 Cytoplasm; Cell membrane 0 0 0 1 5 1994-06-01 P35711 SOX5_HUMAN SOX5 Transcription factor SOX-5 763 84 12 Nucleus 0 1 Lamb-Shaffer syndrome 0 1 5 1994-06-01 P35913 PDE6B_HUMAN PDE6B Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta 854 98.3 4 3.1.4.35 Photoreceptor outer segment membrane; Membrane 0 2 Retinitis pigmentosa 40; Night blindness, congenital stationary, autosomal dominant 2 0 1 5 1994-06-01 P36508 ZNF76_HUMAN ZNF76 Zinc finger protein 76 570 61.8 6 Nucleus; Chromosome 0 0 0 1 5 1994-06-01 P39877 PA2G5_HUMAN PLA2G5 Phospholipase A2 group V 138 15.7 1 3.1.1.4 Secreted; Cell membrane; Cytoplasmic vesicle; Recycling endosome; Golgi apparatus 0 1 Fleck retina, familial benign 0 1 5 1995-02-01 P40205 NCYM_HUMAN MYCNOS N-cym protein 109 11.7 Cytoplasm; Nucleus 0 0 0 1 5 1995-02-01 P41162 ETV3_HUMAN ETV3 ETS translocation variant 3 512 57 1 Nucleus 0 0 0 1 5 1995-02-01 P42025 ACTY_HUMAN ACTR1B Beta-centractin 376 42.3 2 Cytoplasm 0 0 0 1 5 1995-11-01 P42857 NSG1_HUMAN NSG1 Neuronal vesicle trafficking-associated protein 1 185 20.9 4 Membrane; Golgi apparatus; Endosome membrane; Cell projection; Early endosome membrane; Late endosome membrane; Lysosome lumen; Recycling endosome membrane; Cytoplasmic vesicle membrane; Endosome; Endoplasmic reticulum membrane 1 0 0 1 5 1995-11-01 P43304 GPDM_HUMAN GPD2 Glycerol-3-phosphate dehydrogenase, mitochondrial 727 80.9 2 1.1.5.3 Mitochondrion 0 0 0 1 5 1995-11-01 P43365 MAGAC_HUMAN MAGEA12 Melanoma-associated antigen 12 314 34.8 X 0 0 0 1 5 1995-11-01 P43630 KI3L2_HUMAN KIR3DL2 Killer cell immunoglobulin-like receptor 3DL2 455 50.2 19 Cell membrane 1 0 0 1 5 1995-11-01 P43699 NKX21_HUMAN NKX2-1 Homeobox protein Nkx-2.1 371 38.6 14 Nucleus 0 3 Chorea, hereditary benign; Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction; Thyroid cancer, non-medullary, 1 0 1 5 1995-11-01 P45378 TNNT3_HUMAN TNNT3 Troponin T, fast skeletal muscle 269 31.8 11 0 1 Arthrogryposis, distal, 2B2 0 1 5 1995-11-01 P47755 CAZA2_HUMAN CAPZA2 F-actin-capping protein subunit alpha-2 286 32.9 7 0 0 0 1 5 1996-02-01 P48048 KCNJ1_HUMAN KCNJ1 ATP-sensitive inward rectifier potassium channel 1 391 44.8 11 Cell membrane 2 1 Bartter syndrome 2, antenatal 0 1 5 1996-02-01 P48145 NPBW1_HUMAN NPBWR1 Neuropeptides B/W receptor type 1 328 36.1 8 Cell membrane 7 0 0 1 5 1996-02-01 P48165 CXA8_HUMAN GJA8 Gap junction alpha-8 protein 433 48.2 1 Cell membrane; Cell junction 4 1 Cataract 1, multiple types 0 1 5 1996-02-01 P48380 RFX3_HUMAN RFX3 Transcription factor RFX3 749 83.5 9 Nucleus 0 0 0 1 5 1996-02-01 P48507 GSH0_HUMAN GCLM Glutamate--cysteine ligase regulatory subunit 274 30.7 1 0 0 0 1 5 1996-02-01 P48723 HSP13_HUMAN HSPA13 Heat shock 70 kDa protein 13 471 51.9 21 Microsome; Endoplasmic reticulum 0 0 0 1 5 1996-02-01 P49335 PO3F4_HUMAN POU3F4 POU domain, class 3, transcription factor 4 361 39.4 Nucleus 0 1 Deafness, X-linked, 2 0 1 5 1996-02-01 P49454 CENPF_HUMAN CENPF Centromere protein F 3114 357.5 1 Cytoplasm; Nucleus matrix; Chromosome 0 1 Stromme syndrome 0 1 5 1996-02-01 P49589 SYCC_HUMAN CARS1 Cysteine--tRNA ligase, cytoplasmic 748 85.5 11 6.1.1.16 Cytoplasm 0 1 Microcephaly, developmental delay, and brittle hair syndrome 0 1 5 1996-02-01 P49746 TSP3_HUMAN THBS3 Thrombospondin-3 956 104.2 1 0 0 0 1 5 1996-10-01 P50150 GBG4_HUMAN GNG4 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-4 75 8.4 1 Cell membrane 0 0 0 1 5 1996-10-01 P50219 MNX1_HUMAN MNX1 Motor neuron and pancreas homeobox protein 1 401 40.6 7 Nucleus 0 1 Currarino syndrome 0 1 5 1996-10-01 P50452 SPB8_HUMAN SERPINB8 Serpin B8 374 42.8 18 Cytoplasm 0 1 Peeling skin syndrome 5 0 1 5 1996-10-01 P50747 BPL1_HUMAN HLCS Biotin--protein ligase 726 80.8 21 6.3.4.- Cytoplasm; Mitochondrion 0 1 Holocarboxylase synthetase deficiency 0 1 5 1996-10-01 P50749 RASF2_HUMAN RASSF2 Ras association domain-containing protein 2 326 37.8 20 Nucleus; Cytoplasm; Chromosome 0 0 0 1 5 1996-10-01 P51636 CAV2_HUMAN CAV2 Caveolin-2 162 18.3 7 Nucleus; Cytoplasm; Golgi apparatus membrane; Cell membrane; Membrane 0 0 0 1 5 1996-10-01 P51690 ARSL_HUMAN ARSL Arylsulfatase L 589 65.7 X 3.1.6.1 Golgi apparatus 0 1 Chondrodysplasia punctata 1, X-linked recessive 0 1 5 1996-10-01 P51805 PLXA3_HUMAN PLXNA3 Plexin-A3 1871 207.7 X Cell membrane 1 0 0 1 5 1996-10-01 P51816 AFF2_HUMAN AFF2 AF4/FMR2 family member 2 1311 144.8 X Nucleus speckle 0 1 Intellectual developmental disorder, X-linked 109 0 1 5 1996-10-01 P51864 TDGF3_HUMAN CRIPTO3 Protein CRIPTO3 188 21.2 X Cell membrane 0 0 0 1 5 1996-10-01 P51957 NEK4_HUMAN NEK4 Serine/threonine-protein kinase Nek4 841 94.6 3 2.7.11.1 Cell projection; Cytoplasm 0 0 0 1 5 1996-10-01 P51991 ROA3_HUMAN HNRNPA3 Heterogeneous nuclear ribonucleoprotein A3 378 39.6 2 Nucleus 0 0 0 1 5 1996-10-01 P52747 ZN143_HUMAN ZNF143 Zinc finger protein 143 638 68.9 11 Nucleus; Chromosome 0 0 0 1 5 1996-10-01 P52824 DGKQ_HUMAN DGKQ Diacylglycerol kinase theta 942 101.2 4 2.7.1.107, 2.7.1.93 Cytoplasm; Cell membrane; Synapse; Nucleus; Nucleus speckle; Nucleus matrix 0 0 0 1 5 1996-10-01 P54257 HAP1_HUMAN HAP1 Huntingtin-associated protein 1 671 75.5 17 Cytoplasm; Cell projection; Presynapse; Lysosome; Endoplasmic reticulum; Mitochondrion; Nucleus; Cytoplasmic vesicle; Early endosome 0 0 0 1 5 1996-10-01 P54849 EMP1_HUMAN EMP1 Epithelial membrane protein 1 157 17.6 12 Membrane 4 0 0 1 5 1996-10-01 P55160 NCKPL_HUMAN NCKAP1L Nck-associated protein 1-like 1127 128.2 12 Cell membrane; Cytoplasm 1 1 Immunodeficiency 72 with autoinflammation and lymphoproliferation 0 1 5 1996-10-01 P55198 AF17_HUMAN MLLT6 Protein AF-17 1093 112 17 Nucleus; Cytoplasm 0 0 0 1 5 1996-10-01 P56377 AP1S2_HUMAN AP1S2 AP-1 complex subunit sigma-2 157 18.6 X Golgi apparatus; Cytoplasmic vesicle membrane; Membrane 0 1 Pettigrew syndrome 0 1 5 1998-07-15 P57054 PIGP_HUMAN PIGP Phosphatidylinositol N-acetylglucosaminyltransferase subunit P 158 18.1 21 Membrane 2 1 Developmental and epileptic encephalopathy 55 0 1 5 2000-12-01 P57076 CF298_HUMAN CFAP298 Cilia- and flagella-associated protein 298 290 33.2 21 Cytoplasm 0 1 Ciliary dyskinesia, primary, 26 0 1 5 2000-12-01 P57086 SCND1_HUMAN SCAND1 SCAN domain-containing protein 1 179 19.1 20 Nucleus 0 0 0 1 5 2000-12-01 P57679 EVC_HUMAN EVC EvC complex member EVC 992 112 4 Cell membrane; Cytoplasm; Cell projection 1 2 Ellis-van Creveld syndrome; Acrofacial dysostosis, Weyers type 0 1 5 2000-12-01 P57721 PCBP3_HUMAN PCBP3 Poly(rC)-binding protein 3 371 39.5 21 Cytoplasm 0 0 0 1 5 2001-01-11 P58215 LOXL3_HUMAN LOXL3 Lysyl oxidase homolog 3 753 83.2 2 1.4.3.-, 1.4.3.13 Secreted; Cytoplasm; Nucleus 0 1 Myopia 28, autosomal recessive 0 1 5 2001-07-11 P59773 MNARL_HUMAN MINAR2 Major intrinsically disordered NOTCH2-binding receptor 1-like 190 21.6 5 Lysosome membrane; Endoplasmic reticulum membrane 1 1 Deafness, autosomal recessive, 120 0 1 5 2003-07-11 P59991 KR122_HUMAN KRTAP12-2 Keratin-associated protein 12-2 146 14.7 21 0 0 0 1 5 2003-11-07 P60328 KR123_HUMAN KRTAP12-3 Keratin-associated protein 12-3 96 9.9 21 0 0 0 1 5 2004-02-02 P60371 KR106_HUMAN KRTAP10-6 Keratin-associated protein 10-6 365 36.8 21 0 0 0 1 5 2004-02-16 P60372 KR104_HUMAN KRTAP10-4 Keratin-associated protein 10-4 401 40.5 21 0 0 0 1 5 2004-02-16 P61601 NCALD_HUMAN NCALD Neurocalcin-delta 193 22.2 8 0 0 0 1 5 2004-05-24 P61647 SIA8F_HUMAN ST8SIA6 Alpha-2,8-sialyltransferase 8F 398 44.8 10 2.4.99.- Golgi apparatus membrane 1 0 0 1 5 2004-06-07 P61962 DCAF7_HUMAN DCAF7 DDB1- and CUL4-associated factor 7 342 38.9 17 Cytoplasm; Nucleus 0 0 0 1 5 2004-06-07 P62341 SELT_HUMAN SELENOT Thioredoxin reductase-like selenoprotein T 195 22.3 3 1.8.1.9 Endoplasmic reticulum membrane 1 0 0 1 5 2004-07-05 P62633 CNBP_HUMAN CNBP CCHC-type zinc finger nucleic acid binding protein 177 19.5 3 Nucleus; Cytoplasm; Endoplasmic reticulum 0 1 Dystrophia myotonica 2 0 1 5 2004-07-19 P62760 VISL1_HUMAN VSNL1 Visinin-like protein 1 191 22.1 2 0 0 0 1 5 2004-08-16 P62955 CCG7_HUMAN CACNG7 Voltage-dependent calcium channel gamma-7 subunit 275 31 19 Cell membrane 4 0 0 1 5 2004-08-31 P63215 GBG3_HUMAN GNG3 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-3 75 8.3 11 Cell membrane 0 0 0 1 5 2004-09-27 P78329 CP4F2_HUMAN CYP4F2 Cytochrome P450 4F2 520 59.9 19 1.14.14.1 Microsome membrane; Endoplasmic reticulum membrane 0 1 Coumarin resistance 0 1 5 1998-12-15 P78369 CLD10_HUMAN CLDN10 Claudin-10 228 24.5 13 Cell junction; Cell membrane 4 1 HELIX syndrome 0 1 5 2000-05-30 P78381 S35A2_HUMAN SLC35A2 UDP-galactose translocator 396 41.3 X Endoplasmic reticulum membrane; Golgi apparatus membrane 10 1 Congenital disorder of glycosylation 2M 0 1 5 1997-11-01 P78396 CCNA1_HUMAN CCNA1 Cyclin-A1 465 52.4 13 Nucleus 0 0 0 1 5 2000-05-30 P78415 IRX3_HUMAN IRX3 Iroquois-class homeodomain protein IRX-3 501 52.1 16 Nucleus 0 0 0 1 5 1998-07-15 P78424 PO6F2_HUMAN POU6F2 POU domain, class 6, transcription factor 2 691 73.3 7 Nucleus 0 1 Hereditary susceptibility to Wilms tumor 5 0 1 5 2003-02-01 P78539 SRPX_HUMAN SRPX Sushi repeat-containing protein SRPX 464 51.6 X Cell surface 0 0 0 1 5 1997-11-01 P79522 PRR3_HUMAN PRR3 Proline-rich protein 3 188 20.6 6 0 0 0 1 5 2005-02-15 P80217 IN35_HUMAN IFI35 Interferon-induced 35 kDa protein 286 31.5 17 Cytoplasm; Nucleus; Secreted 0 0 0 1 5 1994-02-01 P80294 MT1H_HUMAN MT1H Metallothionein-1H 61 6 16 0 0 0 1 5 1994-02-01 P80297 MT1X_HUMAN MT1X Metallothionein-1X 61 6.1 16 0 0 0 1 5 1994-02-01 P82987 ATL3_HUMAN ADAMTSL3 ADAMTS-like protein 3 1691 188.7 15 Secreted 0 0 0 1 5 2006-09-19 P86452 ZBED6_HUMAN ZBED6 Zinc finger BED domain-containing protein 6 979 110 1 Nucleus; Cytoplasm 0 0 0 1 5 2010-03-23 P98153 IDD_HUMAN DGCR2 Integral membrane protein DGCR2/IDD 550 60.8 22 Membrane 1 0 0 1 5 1996-10-01 P98168 ZXDA_HUMAN ZXDA Zinc finger X-linked protein ZXDA 799 84.8 X Nucleus 0 0 0 1 5 1996-10-01 P98173 FAM3A_HUMAN FAM3A Protein FAM3A 230 25.2 X Secreted 0 0 0 1 5 1996-10-01 Q00056 HXA4_HUMAN HOXA4 Homeobox protein Hox-A4 320 34.5 7 Nucleus 0 0 0 1 5 1992-12-01 Q00765 REEP5_HUMAN REEP5 Receptor expression-enhancing protein 5 189 21.5 5 Endoplasmic reticulum membrane; Sarcoplasmic reticulum membrane 4 0 0 1 5 1993-04-01 Q00994 BEX3_HUMAN BEX3 Protein BEX3 111 13 X Nucleus; Cytoplasm 0 0 0 1 5 1994-06-01 Q01432 AMPD3_HUMAN AMPD3 AMP deaminase 3 767 88.8 11 3.5.4.6 0 1 Adenosine monophosphate deaminase deficiency erythrocyte type 0 1 5 1993-07-01 Q01954 BNC1_HUMAN BNC1 Zinc finger protein basonuclin-1 994 111 15 Nucleus; Cytoplasm 0 1 Premature ovarian failure 16 0 1 5 1994-02-01 Q02388 CO7A1_HUMAN COL7A1 Collagen alpha-1(VII) chain 2944 295.2 3 Secreted 0 8 Epidermolysis bullosa dystrophica, autosomal dominant; Epidermolysis bullosa dystrophica, autosomal recessive; Transient bullous dermolysis of the newborn; Epidermolysis bullosa dystrophica, pretibial type; Epidermolysis bullosa dystrophica, Bart type; Epidermolysis bullosa pruriginosa; Nail disorder, non-syndromic congenital, 8; Epidermolysis bullosa dystrophica, with subcorneal cleavage 0 1 5 1994-06-01 Q02833 RASF7_HUMAN RASSF7 Ras association domain-containing protein 7 373 39.9 11 Cytoplasm 0 0 0 1 5 2001-09-26 Q02962 PAX2_HUMAN PAX2 Paired box protein Pax-2 417 44.7 10 Nucleus 0 2 Papillorenal syndrome; Focal segmental glomerulosclerosis 7 0 1 5 1993-07-01 Q02978 M2OM_HUMAN SLC25A11 Mitochondrial 2-oxoglutarate/malate carrier protein 314 34.1 17 Mitochondrion inner membrane 6 1 Pheochromocytoma/paraganglioma syndrome 6 0 1 5 1993-07-01 Q03989 ARI5A_HUMAN ARID5A AT-rich interactive domain-containing protein 5A 594 64.1 2 Nucleus 0 0 0 1 5 2007-05-29 Q04323 UBXN1_HUMAN UBXN1 UBX domain-containing protein 1 297 33.3 11 Cytoplasm 0 0 0 1 5 1996-10-01 Q04671 P_HUMAN OCA2 P protein 838 92.9 15 Melanosome membrane 12 1 Albinism, oculocutaneous, 2 0 1 5 1994-06-01 Q04727 TLE4_HUMAN TLE4 Transducin-like enhancer protein 4 773 83.8 9 Nucleus 0 0 0 1 5 1994-02-01 Q04941 PLP2_HUMAN PLP2 Proteolipid protein 2 152 16.7 X Membrane 4 0 0 1 5 1993-10-01 Q05215 EGR4_HUMAN EGR4 Early growth response protein 4 589 61.6 2 Nucleus 0 0 0 1 5 1994-06-01 Q06033 ITIH3_HUMAN ITIH3 Inter-alpha-trypsin inhibitor heavy chain H3 890 99.8 3 Secreted 0 0 0 1 5 1998-07-15 Q06587 RING1_HUMAN RING1 E3 ubiquitin-protein ligase RING1 406 42.4 6 2.3.2.27 Nucleus; Nucleus speckle 0 0 0 1 5 1994-06-01 Q06730 ZN33A_HUMAN ZNF33A Zinc finger protein 33A 810 94.4 10 Nucleus 0 0 0 1 5 1996-10-01 Q07687 DLX2_HUMAN DLX2 Homeobox protein DLX-2 328 34.2 2 Nucleus 0 0 0 1 5 1996-10-01 Q07973 CP24A_HUMAN CYP24A1 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial 514 58.9 20 1.14.15.16 Mitochondrion 0 1 Hypercalcemia, infantile, 1 0 1 5 1996-10-01 Q08170 SRSF4_HUMAN SRSF4 Serine/arginine-rich splicing factor 4 494 56.7 1 Nucleus speckle 0 0 0 1 5 1995-02-01 Q08397 LOXL1_HUMAN LOXL1 Lysyl oxidase homolog 1 574 63.1 15 1.4.3.13 Secreted 0 1 Exfoliation syndrome 0 1 5 2001-04-27 Q08426 ECHP_HUMAN EHHADH Peroxisomal bifunctional enzyme 723 79.5 3 Peroxisome 0 1 Fanconi renotubular syndrome 3 0 1 5 1994-10-01 Q08431 MFGM_HUMAN MFGE8 Lactadherin 387 43.1 15 Membrane; Secreted; Cytoplasmic vesicle 0 0 0 1 5 1996-10-01 Q08477 CP4F3_HUMAN CYP4F3 Cytochrome P450 4F3 520 59.8 19 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 1 0 0 1 5 1995-02-01 Q08752 PPID_HUMAN PPID Peptidyl-prolyl cis-trans isomerase D 370 40.8 4 5.2.1.8 Cytoplasm; Nucleus 0 0 0 1 5 1995-02-01 Q08AG5 ZN844_HUMAN ZNF844 Zinc finger protein 844 666 76.9 19 Nucleus 0 0 0 1 5 2008-09-02 Q09019 DMWD_HUMAN DMWD Dystrophia myotonica WD repeat-containing protein 674 70.4 19 Cytoplasm; Nucleus; Perikaryon; Cell projection 0 0 0 1 5 1996-10-01 Q09FC8 ZN415_HUMAN ZNF415 Zinc finger protein 415 603 68.8 19 Nucleus; Cytoplasm 0 0 0 1 5 2007-05-15 Q0D2K0 NIPA4_HUMAN NIPAL4 Magnesium transporter NIPA4 404 44 5 Cell membrane 9 1 Ichthyosis, congenital, autosomal recessive 6 0 1 5 2007-04-17 Q12768 WASC5_HUMAN WASHC5 WASH complex subunit 5 1159 134.3 8 Cytoplasm; Endoplasmic reticulum; Early endosome 0 2 Spastic paraplegia 8, autosomal dominant; Ritscher-Schinzel syndrome 1 0 1 5 1997-11-01 Q12774 ARHG5_HUMAN ARHGEF5 Rho guanine nucleotide exchange factor 5 1597 176.8 7 Cytoplasm; Nucleus; Cell projection 0 0 0 1 5 1999-07-15 Q12800 TFCP2_HUMAN TFCP2 Alpha-globin transcription factor CP2 502 57.3 12 Nucleus 0 0 0 1 5 2006-03-21 Q12815 TROAP_HUMAN TROAP Tastin 778 83.9 12 Cytoplasm 0 0 0 1 5 2000-05-30 Q12816 TROP_HUMAN TRO Trophinin 1431 143.7 X 0 0 0 1 5 2000-05-30 Q12870 TCF15_HUMAN TCF15 Transcription factor 15 199 20.8 20 Nucleus 0 0 0 1 5 2002-11-25 Q12889 OVGP1_HUMAN OVGP1 Oviduct-specific glycoprotein 678 75.4 1 Cytoplasmic vesicle 0 0 0 1 5 1997-11-01 Q12893 TM115_HUMAN TMEM115 Transmembrane protein 115 351 38.2 3 Golgi apparatus 4 0 0 1 5 2002-11-01 Q12951 FOXI1_HUMAN FOXI1 Forkhead box protein I1 378 41 5 Nucleus 0 0 0 1 5 1997-11-01 Q12952 FOXL1_HUMAN FOXL1 Forkhead box protein L1 345 36.5 16 Nucleus 0 1 Otosclerosis 11 0 1 5 1997-11-01 Q12986 NFX1_HUMAN NFX1 Transcriptional repressor NF-X1 1120 124.4 9 2.3.2.- Nucleus 0 0 0 1 5 1997-11-01 Q13057 COASY_HUMAN COASY Bifunctional coenzyme A synthase 564 62.3 17 Cytoplasm; Mitochondrion matrix 0 2 Neurodegeneration with brain iron accumulation 6; Pontocerebellar hypoplasia 12 0 1 5 1997-11-01 Q13061 TRDN_HUMAN TRDN Triadin 729 81.6 6 Cell membrane; Sarcoplasmic reticulum membrane 1 1 Cardiac arrhythmia syndrome, with or without skeletal muscle weakness 0 1 5 2000-05-30 Q13087 PDIA2_HUMAN PDIA2 Protein disulfide-isomerase A2 525 58.2 16 5.3.4.1 Endoplasmic reticulum lumen 0 0 0 1 5 1998-07-15 Q13228 SBP1_HUMAN SELENBP1 Methanethiol oxidase 472 52.4 1 1.8.3.4 Nucleus; Cytoplasm; Membrane 0 1 Extraoral halitosis due to methanethiol oxidase deficiency 0 1 5 1999-07-15 Q13268 DHRS2_HUMAN DHRS2 Dehydrogenase/reductase SDR family member 2, mitochondrial 280 29.9 14 1.1.1.- Mitochondrion matrix; Nucleus 0 0 0 1 5 1997-11-01 Q13361 MFAP5_HUMAN MFAP5 Microfibrillar-associated protein 5 173 19.6 12 Secreted 0 1 Aortic aneurysm, familial thoracic 9 0 1 5 1997-11-01 Q13562 NDF1_HUMAN NEUROD1 Neurogenic differentiation factor 1 356 39.9 2 Cytoplasm; Nucleus 0 2 Maturity-onset diabetes of the young 6; Type 2 diabetes mellitus 0 1 5 1997-11-01 Q13608 PEX6_HUMAN PEX6 Peroxisomal ATPase PEX6 980 104.1 6 3.6.4.- Cytoplasm; Peroxisome membrane; Cell projection 0 4 Peroxisome biogenesis disorder complementation group 4; Peroxisome biogenesis disorder 4A; Peroxisome biogenesis disorder 4B; Heimler syndrome 2 0 1 5 1997-11-01 Q13621 S12A1_HUMAN SLC12A1 Solute carrier family 12 member 1 1099 121.5 15 Apical cell membrane 10 1 Bartter syndrome 1, antenatal 0 1 5 2001-01-11 Q13685 AAMP_HUMAN AAMP Angio-associated migratory cell protein 434 46.8 2 Cell membrane; Cytoplasm 0 0 0 1 5 1998-07-15 Q13790 APOF_HUMAN APOF Apolipoprotein F 326 35.4 12 Secreted 0 0 0 1 5 1997-11-01 Q13875 MOBP_HUMAN MOBP Myelin-associated oligodendrocyte basic protein 183 21 3 Cytoplasm 0 0 0 1 5 2007-03-20 Q13886 KLF9_HUMAN KLF9 Krueppel-like factor 9 244 27.2 9 Nucleus 0 0 0 1 5 1998-12-15 Q14003 KCNC3_HUMAN KCNC3 Voltage-gated potassium channel KCNC3 757 80.6 19 Cell membrane; Presynaptic cell membrane; Perikaryon; Cell projection; Cytoplasm 6 1 Spinocerebellar ataxia 13 0 1 5 1998-07-15 Q14088 RB33A_HUMAN RAB33A Ras-related protein Rab-33A 237 26.6 X 3.6.5.2 Cell membrane 0 0 0 1 5 1997-11-01 Q14184 DOC2B_HUMAN DOC2B Double C2-like domain-containing protein beta 412 45.9 17 Cytoplasm; Cytoplasmic granule; Cell membrane 0 0 0 1 5 2004-08-31 Q14249 NUCG_HUMAN ENDOG Endonuclease G, mitochondrial 297 32.6 9 3.1.30.- Mitochondrion 0 0 0 1 5 1997-11-01 Q14264 ENR1_HUMAN ERV3-1 Endogenous retrovirus group 3 member 1 Env polyprotein 604 67.9 7 Virion 0 0 0 1 5 2004-03-01 Q14410 GLPK2_HUMAN GK2 Glycerol kinase 2 553 60.6 4 2.7.1.30 Mitochondrion outer membrane; Cytoplasm 1 0 0 1 5 2001-01-11 Q14512 FGFP1_HUMAN FGFBP1 Fibroblast growth factor-binding protein 1 234 26.3 4 Secreted; Cell membrane 0 0 0 1 5 2006-07-11 Q14533 KRT81_HUMAN KRT81 Keratin, type II cuticular Hb1 505 54.9 12 0 1 Monilethrix 2 0 1 5 2004-03-29 Q14571 ITPR2_HUMAN ITPR2 Inositol 1,4,5-trisphosphate-gated calcium channel ITPR2 2701 308.1 12 Endoplasmic reticulum membrane; Cytoplasmic vesicle 6 1 Anhidrosis, isolated, with normal sweat glands 0 1 5 1997-11-01 Q14584 ZN266_HUMAN ZNF266 Zinc finger protein 266 549 62.1 19 Nucleus 0 0 0 1 5 2000-12-01 Q14585 ZN345_HUMAN ZNF345 Zinc finger protein 345 488 55.4 19 Nucleus 0 0 0 1 5 2000-12-01 Q14643 ITPR1_HUMAN ITPR1 Inositol 1,4,5-trisphosphate-gated calcium channel ITPR1 2758 313.9 3 Endoplasmic reticulum membrane; Cytoplasmic vesicle; Cytoplasm 6 3 Spinocerebellar ataxia 15; Spinocerebellar ataxia 29; Gillespie syndrome 0 1 5 2001-11-02 Q14689 DIP2A_HUMAN DIP2A Disco-interacting protein 2 homolog A 1571 170.4 21 6.2.1.1 Cell membrane; Mitochondrion; Cell projection 0 0 0 1 5 2000-05-30 Q14722 KCAB1_HUMAN KCNAB1 Voltage-gated potassium channel subunit beta-1 419 46.6 3 1.1.1.- Cytoplasm; Membrane; Cell membrane 0 0 0 1 5 2001-10-18 Q14765 STAT4_HUMAN STAT4 Signal transducer and activator of transcription 4 748 85.9 2 Cytoplasm; Nucleus 0 3 Systemic lupus erythematosus 11; Rheumatoid arthritis; Disabling pansclerotic morphea of childhood 0 1 5 2000-05-30 Q14954 KI2S1_HUMAN KIR2DS1 Killer cell immunoglobulin-like receptor 2DS1 304 33.6 Cell membrane 1 0 0 1 5 2001-02-21 Q15012 LAP4A_HUMAN LAPTM4A Lysosomal-associated transmembrane protein 4A 233 26.8 2 Endomembrane system 4 0 0 1 5 1998-07-15 Q15014 MO4L2_HUMAN MORF4L2 Mortality factor 4-like protein 2 288 32.3 X Nucleus 0 0 0 1 5 1998-07-15 Q15067 ACOX1_HUMAN ACOX1 Peroxisomal acyl-coenzyme A oxidase 1 660 74.4 17 1.3.3.6 Peroxisome 0 2 Adrenoleukodystrophy, pseudoneonatal; Mitchell syndrome 0 1 5 1997-11-01 Q15147 PLCB4_HUMAN PLCB4 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 1175 134.5 20 3.1.4.11 Cell membrane 0 2 Auriculocondylar syndrome 2A; Auriculocondylar syndrome 2B 0 1 5 2001-01-11 Q15170 TCAL1_HUMAN TCEAL1 Transcription elongation factor A protein-like 1 159 18.6 X Nucleus 0 1 Hijazi-Reis syndrome 0 1 5 2006-05-30 Q15173 2A5B_HUMAN PPP2R5B Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform 497 57.4 11 Cytoplasm 0 0 0 1 5 2000-05-30 Q15349 KS6A2_HUMAN RPS6KA2 Ribosomal protein S6 kinase alpha-2 733 83.2 6 2.7.11.1 Nucleus; Cytoplasm 0 0 0 1 5 1998-12-15 Q15392 DHC24_HUMAN DHCR24 Delta(24)-sterol reductase 516 60.1 1 1.3.1.72 Endoplasmic reticulum membrane; Golgi apparatus membrane 1 1 Desmosterolosis 0 1 5 1998-07-15 Q15437 SC23B_HUMAN SEC23B Protein transport protein Sec23B 767 86.5 20 Cytoplasmic vesicle; Endoplasmic reticulum membrane; Cytoplasm 0 2 Cowden syndrome 7; Anemia, congenital dyserythropoietic, 2 0 1 5 1997-11-01 Q15517 CDSN_HUMAN CDSN Corneodesmosin 529 51.6 6 Secreted 0 2 Hypotrichosis 2; Peeling skin syndrome 1 0 1 5 1998-07-15 Q15629 TRAM1_HUMAN TRAM1 Translocating chain-associated membrane protein 1 374 43.1 8 Endoplasmic reticulum membrane 8 0 0 1 5 2001-08-29 Q15785 TOM34_HUMAN TOMM34 Mitochondrial import receptor subunit TOM34 309 34.6 20 Cytoplasm; Mitochondrion outer membrane 0 0 0 1 5 2002-10-19 Q15916 ZBTB6_HUMAN ZBTB6 Zinc finger and BTB domain-containing protein 6 424 48.2 9 Nucleus 0 0 0 1 5 2004-03-29 Q16445 GBRA6_HUMAN GABRA6 Gamma-aminobutyric acid receptor subunit alpha-6 453 51 5 Postsynaptic cell membrane; Cell membrane 4 0 0 1 5 1997-11-01 Q16558 KCMB1_HUMAN KCNMB1 Calcium-activated potassium channel subunit beta-1 191 21.8 5 Membrane 2 0 0 1 5 1997-11-01 Q16610 ECM1_HUMAN ECM1 Extracellular matrix protein 1 540 60.7 1 Secreted 0 1 Lipoid proteinosis 0 1 5 1997-11-01 Q16739 CEGT_HUMAN UGCG Ceramide glucosyltransferase 394 44.9 9 2.4.1.80 Golgi apparatus membrane 5 0 0 1 5 1997-11-01 Q17R60 IMPG1_HUMAN IMPG1 Interphotoreceptor matrix proteoglycan 1 797 89.4 6 Cell projection; Secreted; Photoreceptor inner segment 0 2 Macular dystrophy, vitelliform, 4; Retinitis pigmentosa 91 0 1 5 2006-10-03 Q17R89 RHG44_HUMAN ARHGAP44 Rho GTPase-activating protein 44 818 89.2 17 Cell projection; Recycling endosome; Presynapse 0 0 0 1 5 2007-03-20 Q19AV6 ZSWM7_HUMAN ZSWIM7 Zinc finger SWIM domain-containing protein 7 140 15.4 17 Chromosome; Nucleus 0 2 Ovarian dysgenesis 10; Spermatogenic failure 71 0 1 5 2007-10-23 Q2M2E3 ODFP4_HUMAN ODF4 Outer dense fiber protein 4 257 29.2 17 Membrane 3 0 0 1 5 2007-09-11 Q2VPK5 CTU2_HUMAN CTU2 Cytoplasmic tRNA 2-thiolation protein 2 515 56.1 16 Cytoplasm 0 1 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 0 1 5 2007-05-29 Q2VWA4 SKOR2_HUMAN SKOR2 SKI family transcriptional corepressor 2 1015 105.8 18 Nucleus; Cytoplasm 0 1 Valence-Farazi cerebellar ataxia syndrome 0 1 5 2008-05-20 Q32P41 TRM5_HUMAN TRMT5 tRNA (guanine(37)-N(1))-methyltransferase 509 58.3 14 2.1.1.228 Mitochondrion matrix; Nucleus; Cytoplasm 0 1 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay 0 1 5 2006-10-31 Q32P44 EMAL3_HUMAN EML3 Echinoderm microtubule-associated protein-like 3 896 95.2 11 Cytoplasm; Nucleus; Midbody 0 0 0 1 5 2007-04-17 Q3B7T1 EDRF1_HUMAN EDRF1 Erythroid differentiation-related factor 1 1238 138.5 10 Nucleus 0 0 0 1 5 2006-06-27 Q3KP66 INAVA_HUMAN INAVA Innate immunity activator protein 663 72.9 1 Nucleus; Cytoplasm 0 1 Inflammatory bowel disease 29 0 1 5 2006-10-03 Q3KR16 PKHG6_HUMAN PLEKHG6 Pleckstrin homology domain-containing family G member 6 790 89 12 Cell projection; Cytoplasm; Cleavage furrow 0 0 0 1 5 2007-10-23 Q3L8U1 CHD9_HUMAN CHD9 ATP-dependent chromatin remodeler CHD9 2897 326 16 3.6.4.- Cytoplasm; Nucleus 0 0 0 1 5 2006-05-02 Q3LI67 KRA63_HUMAN KRTAP6-3 Keratin-associated protein 6-3 110 11.1 21 0 0 0 1 5 2006-02-21 Q3MII6 TBC25_HUMAN TBC1D25 TBC1 domain family member 25 688 76.3 X Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 2007-05-29 Q3SX64 CMA1D_HUMAN CIMAP1D Protein CIMAP1D 289 30.8 19 0 0 0 1 5 2007-02-06 Q3SXY8 AR13B_HUMAN ARL13B ADP-ribosylation factor-like protein 13B 428 48.6 3 Cell projection; Cell membrane; Cytoplasm 0 1 Joubert syndrome 8 0 1 5 2006-10-03 Q3SY00 T10IP_HUMAN TSGA10IP Testis-specific protein 10-interacting protein 556 62.4 11 0 0 0 1 5 2008-04-29 Q3SY46 KR133_HUMAN KRTAP13-3 Keratin-associated protein 13-3 172 19.2 21 0 0 0 1 5 2005-11-22 Q3SY56 SP6_HUMAN SP6 Transcription factor Sp6 376 39.8 17 Nucleus 0 1 Amelogenesis imperfecta 1K 0 1 5 2005-11-22 Q3ZAQ7 VMA21_HUMAN VMA21 Vacuolar ATPase assembly integral membrane protein VMA21 101 11.4 X Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cytoplasmic vesicle 2 1 Myopathy, X-linked, with excessive autophagy 0 1 5 2008-04-29 Q495M3 S36A2_HUMAN SLC36A2 Proton-coupled amino acid transporter 2 483 53.2 5 Cell membrane; Endoplasmic reticulum membrane; Recycling endosome membrane 11 2 Hyperglycinuria; Iminoglycinuria 0 1 5 2008-03-18 Q496F6 CLM2_HUMAN CD300E CMRF35-like molecule 2 205 22.9 17 Cell membrane 1 0 0 1 5 2008-02-26 Q49AM1 MTEF2_HUMAN MTERF2 Transcription termination factor 2, mitochondrial 385 44.4 12 Mitochondrion; Mitochondrion matrix 0 0 0 1 5 2006-10-31 Q49AN0 CRY2_HUMAN CRY2 Cryptochrome-2 593 66.9 11 Cytoplasm; Nucleus 0 0 0 1 5 2006-11-28 Q49B96 COX19_HUMAN COX19 Cytochrome c oxidase assembly protein COX19 90 10.4 7 Cytoplasm; Mitochondrion intermembrane space; Mitochondrion 0 0 0 1 5 2007-01-23 Q49MG5 MAP9_HUMAN MAP9 Microtubule-associated protein 9 647 74.2 4 Cytoplasm 0 0 0 1 5 2006-07-25 Q4G0X4 KCD21_HUMAN KCTD21 BTB/POZ domain-containing protein KCTD21 260 29.6 11 0 0 0 1 5 2007-03-20 Q4G176 ACSF3_HUMAN ACSF3 Malonate--CoA ligase ACSF3, mitochondrial 576 64.1 16 6.2.1.76 Mitochondrion 0 1 Combined malonic and methylmalonic aciduria 0 1 5 2008-01-15 Q4KMQ2 ANO6_HUMAN ANO6 Anoctamin-6 910 106.2 12 Cell membrane 10 1 Scott syndrome 0 1 5 2005-09-13 Q4ZJI4 SL9B1_HUMAN SLC9B1 Sodium/hydrogen exchanger 9B1 515 56.1 4 Cell projection 13 0 0 1 5 2008-01-15 Q502W6 VWA3B_HUMAN VWA3B von Willebrand factor A domain-containing protein 3B 1294 145.7 2 Cytoplasm 0 1 Spinocerebellar ataxia, autosomal recessive, 22 0 1 5 2008-05-20 Q504Y0 S39AC_HUMAN SLC39A12 Zinc transporter ZIP12 691 76.7 10 Membrane 8 0 0 1 5 2007-12-04 Q53F39 MPPE1_HUMAN MPPE1 Metallophosphoesterase 1 396 45.1 18 3.1.-.- Endoplasmic reticulum-Golgi intermediate compartment membrane 2 0 0 1 5 2008-01-15 Q53GG5 PDLI3_HUMAN PDLIM3 PDZ and LIM domain protein 3 364 39.2 4 Cytoplasm 0 0 0 1 5 2005-12-06 Q53H96 P5CR3_HUMAN PYCR3 Pyrroline-5-carboxylate reductase 3 274 28.7 8 1.5.1.2 Cytoplasm 0 0 0 1 5 2008-03-18 Q53HC0 CCD92_HUMAN CCDC92 Coiled-coil domain-containing protein 92 331 37 12 Cytoplasm 0 0 0 1 5 2007-02-06 Q53HC9 EIPR1_HUMAN EIPR1 EARP and GARP complex-interacting protein 1 387 43.6 2 Golgi apparatus 0 0 0 1 5 2005-12-20 Q562F6 SGO2_HUMAN SGO2 Shugoshin 2 1265 144.7 2 Nucleus; Chromosome 0 0 0 1 5 2006-01-10 Q569H4 LARGN_HUMAN PRR16 Protein Largen 304 32.8 5 0 0 0 1 5 2007-10-23 Q56P03 EAPP_HUMAN EAPP E2F-associated phosphoprotein 285 32.8 14 Cytoplasm; Nucleus 0 0 0 1 5 2005-08-30 Q56VL3 OCAD2_HUMAN OCIAD2 OCIA domain-containing protein 2 154 17 4 Endosome; Mitochondrion; Mitochondrion inner membrane 0 0 0 1 5 2007-09-11 Q58HT5 AWAT1_HUMAN AWAT1 Acyl-CoA wax alcohol acyltransferase 1 328 37.8 X 2.3.1.75 Endoplasmic reticulum membrane 2 0 0 1 5 2006-09-05 Q5BJD5 TM41B_HUMAN TMEM41B Transmembrane protein 41B 291 32.5 11 Endoplasmic reticulum membrane; Endomembrane system 6 0 0 1 5 2007-06-26 Q5BJF2 SGMR2_HUMAN TMEM97 Sigma intracellular receptor 2 176 20.8 17 Rough endoplasmic reticulum membrane; Nucleus membrane 4 0 0 1 5 2006-10-31 Q5BJH7 YIF1B_HUMAN YIF1B Protein YIF1B 314 34.4 19 Endoplasmic reticulum membrane; Golgi apparatus membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane 5 1 Kaya-Barakat-Masson syndrome 0 1 5 2007-10-23 Q5EBM0 CMPK2_HUMAN CMPK2 UMP-CMP kinase 2, mitochondrial 449 49.4 2 2.7.4.14 Mitochondrion 0 1 Basal ganglia calcification, idiopathic, 10, autosomal recessive 0 1 5 2008-04-29 Q5GH72 XKR7_HUMAN XKR7 XK-related protein 7 579 63.8 20 Cell membrane 7 0 0 1 5 2005-10-11 Q5H9S7 DCA17_HUMAN DCAF17 DDB1- and CUL4-associated factor 17 520 58.8 2 Membrane; Nucleus 2 1 Woodhouse-Sakati syndrome 0 1 5 2007-09-11 Q5HYJ3 FA76B_HUMAN FAM76B Protein FAM76B 339 38.7 11 Nucleus speckle 0 0 0 1 5 2006-07-11 Q5JSH3 WDR44_HUMAN WDR44 WD repeat-containing protein 44 913 101.4 X Cytoplasm; Endosome membrane; Golgi apparatus 0 0 0 1 5 2006-11-28 Q5JTD0 TJAP1_HUMAN TJAP1 Tight junction-associated protein 1 557 61.8 6 Golgi apparatus; Cell junction; Cell membrane 0 0 0 1 5 2005-10-25 Q5JTW2 CEP78_HUMAN CEP78 Centrosomal protein of 78 kDa 689 76.4 9 Cytoplasm 0 1 Cone-rod dystrophy and hearing loss 1 0 1 5 2007-06-26 Q5JXC2 MIIP_HUMAN MIIP Migration and invasion-inhibitory protein 388 42.8 1 0 0 0 1 5 2008-03-18 Q5M7Z0 RNFT1_HUMAN RNFT1 E3 ubiquitin-protein ligase RNFT1 435 49.7 17 2.3.2.27 Endoplasmic reticulum membrane 6 0 0 1 5 2008-02-26 Q5R3F8 PPR29_HUMAN ELFN2 Protein phosphatase 1 regulatory subunit 29 820 89.7 22 Membrane 1 0 0 1 5 2006-10-31 Q5RHP9 ERIC3_HUMAN ERICH3 Glutamate-rich protein 3 1530 168.5 1 Cell projection; Cytoplasm 0 0 0 1 5 2007-10-02 Q5SSG8 MUC21_HUMAN MUC21 Mucin-21 566 54.2 6 Cell membrane 1 0 0 1 5 2008-06-10 Q5T0J7 TEX35_HUMAN TEX35 Testis-expressed protein 35 233 26.5 1 0 0 0 1 5 2006-10-03 Q5T0N5 FBP1L_HUMAN FNBP1L Formin-binding protein 1-like 605 70.1 1 Cytoplasm; Cytoplasmic vesicle; Cell membrane 0 0 0 1 5 2006-11-28 Q5T1B0 AXDN1_HUMAN AXDND1 Axonemal dynein light chain domain-containing protein 1 1012 118 1 Cytoplasm 0 0 0 1 5 2007-04-17 Q5T1R4 ZEP3_HUMAN HIVEP3 Transcription factor HIVEP3 2406 259.5 1 Cytoplasm; Nucleus 0 0 0 1 5 2008-04-29 Q5T481 RBM20_HUMAN RBM20 RNA-binding protein 20 1227 134.3 10 Nucleus; Cytoplasm 0 1 Cardiomyopathy, dilated, 1DD 0 1 5 2008-04-08 Q5T5A8 LCE3C_HUMAN LCE3C Late cornified envelope protein 3C 94 9.7 1 0 0 0 1 5 2006-05-16 Q5T7W0 ZN618_HUMAN ZNF618 Zinc finger protein 618 954 105 9 Nucleus; Chromosome 0 0 0 1 5 2007-05-15 Q5T8A7 PPR26_HUMAN PPP1R26 Protein phosphatase 1 regulatory subunit 26 1209 127.4 9 Nucleus 0 0 0 1 5 2007-11-13 Q5T8P6 RBM26_HUMAN RBM26 RNA-binding protein 26 1007 113.6 13 0 0 0 1 5 2007-01-23 Q5TA77 LCE3B_HUMAN LCE3B Late cornified envelope protein 3B 95 9.8 1 0 0 0 1 5 2006-05-16 Q5TB80 CE162_HUMAN CEP162 Centrosomal protein of 162 kDa 1403 161.9 6 Cytoplasm; Nucleus 0 0 0 1 5 2007-07-24 Q5TZF3 ANR45_HUMAN ANKRD45 Ankyrin repeat domain-containing protein 45 266 30 1 Cytoplasm; Midbody; Cleavage furrow 0 0 0 1 5 2006-06-27 Q5VTT5 MYOM3_HUMAN MYOM3 Myomesin-3 1437 162.2 1 Cytoplasm 0 0 0 1 5 2008-02-26 Q5VWJ9 SNX30_HUMAN SNX30 Sorting nexin-30 437 49.7 9 Early endosome membrane 0 0 0 1 5 2007-04-17 Q5VWT5 FYB2_HUMAN FYB2 FYN-binding protein 2 728 82.1 1 Membrane raft 0 0 0 1 5 2007-09-11 Q5VX71 SUSD4_HUMAN SUSD4 Sushi domain-containing protein 4 490 53.8 1 Membrane 1 0 0 1 5 2006-10-03 Q5VY43 PEAR1_HUMAN PEAR1 Platelet endothelial aggregation receptor 1 1037 110.7 1 Cell membrane; Cell projection 1 0 0 1 5 2007-11-13 Q5VZL5 ZMYM4_HUMAN ZMYM4 Zinc finger MYM-type protein 4 1548 172.8 1 0 0 0 1 5 2007-09-11 Q5VZM2 RRAGB_HUMAN RRAGB Ras-related GTP-binding protein B 374 43.3 X 3.6.5.- Cytoplasm; Lysosome membrane 0 0 0 1 5 2006-06-13 Q5XKE5 K2C79_HUMAN KRT79 Keratin, type II cytoskeletal 79 535 57.8 12 0 0 0 1 5 2008-01-15 Q5XKR4 OTP_HUMAN OTP Homeobox protein orthopedia 325 34.2 5 Nucleus 0 0 0 1 5 2007-06-26 Q643R3 LPCT4_HUMAN LPCAT4 Lysophospholipid acyltransferase LPCAT4 524 57.2 15 Endoplasmic reticulum membrane 2 0 0 1 5 2006-07-25 Q659A1 ICE2_HUMAN ICE2 Little elongation complex subunit 2 982 110 15 Nucleus 0 0 0 1 5 2007-08-21 Q659C4 LAR1B_HUMAN LARP1B La-related protein 1B 914 105.3 4 0 0 0 1 5 2007-09-11 Q66K74 MAP1S_HUMAN MAP1S Microtubule-associated protein 1S 1059 112.2 19 Nucleus; Cytoplasm 0 0 0 1 5 2007-11-13 Q66K79 CBPZ_HUMAN CPZ Carboxypeptidase Z 652 73.7 4 3.4.17.- Secreted 0 0 0 1 5 2006-10-17 Q68CK6 ACS2B_HUMAN ACSM2B Acyl-coenzyme A synthetase ACSM2B, mitochondrial 577 64.3 16 6.2.1.2 Mitochondrion 0 0 0 1 5 2007-10-02 Q68CL5 TPGS2_HUMAN TPGS2 Tubulin polyglutamylase complex subunit 2 300 33.3 18 Cytoplasm 0 0 0 1 5 2005-07-19 Q68D42 TM215_HUMAN TMEM215 Transmembrane protein 215 235 25.8 9 Membrane 2 0 0 1 5 2008-02-26 Q68D91 MBLC2_HUMAN MBLAC2 Acyl-coenzyme A thioesterase MBLAC2 279 31.4 5 3.1.2.2 Endoplasmic reticulum membrane; Cell membrane 0 0 0 1 5 2008-03-18 Q68DA7 FMN1_HUMAN FMN1 Formin-1 1419 157.6 15 Nucleus; Cytoplasm; Cell junction; Cell membrane 0 0 0 1 5 2007-07-24 Q68DE3 USF3_HUMAN USF3 Basic helix-loop-helix domain-containing protein USF3 2245 241.7 3 Nucleus 0 0 0 1 5 2007-07-24 Q68DX3 FRPD2_HUMAN FRMPD2 FERM and PDZ domain-containing protein 2 1309 144.3 10 Cytoplasm; Basolateral cell membrane; Cell junction; Postsynaptic density 0 0 0 1 5 2007-10-02 Q68EA5 ZNF57_HUMAN ZNF57 Zinc finger protein 57 555 64.4 19 Nucleus 0 0 0 1 5 2007-02-06 Q6A163 K1C39_HUMAN KRT39 Keratin, type I cytoskeletal 39 491 55.7 17 0 0 0 1 5 2008-01-15 Q6DKK2 TTC19_HUMAN TTC19 Tetratricopeptide repeat protein 19, mitochondrial 380 42.5 17 Mitochondrion inner membrane 0 1 Mitochondrial complex III deficiency, nuclear type 2 0 1 5 2004-09-27 Q6DN03 H2B2C_HUMAN H2BC20P Putative histone H2B type 2-C 193 21.5 Nucleus; Chromosome 0 0 0 5 5 2006-07-11 Q6F5E8 CARL2_HUMAN CARMIL2 Capping protein, Arp2/3 and myosin-I linker protein 2 1435 154.7 16 Cytoplasm; Cell membrane; Cell projection 0 1 Immunodeficiency 58 0 1 5 2008-03-18 Q6GMR7 FAAH2_HUMAN FAAH2 Fatty-acid amide hydrolase 2 532 58.3 X 3.5.1.99 Membrane; Lipid droplet 1 0 0 1 5 2007-06-26 Q6IC98 GRAM4_HUMAN GRAMD4 GRAM domain-containing protein 4 578 66.4 22 Mitochondrion membrane; Endoplasmic reticulum membrane 3 0 0 1 5 2008-04-08 Q6IPM2 IQCE_HUMAN IQCE IQ domain-containing protein E 695 77.3 7 Cell projection 0 1 Polydactyly, postaxial, A7 0 1 5 2007-04-17 Q6J4K2 NCLX_HUMAN SLC8B1 Mitochondrial sodium/calcium exchanger protein 584 64.2 12 Mitochondrion inner membrane 12 0 0 1 5 2006-01-10 Q6JQN1 ACD10_HUMAN ACAD10 Acyl-CoA dehydrogenase family member 10 1059 118.8 12 1.3.99.- 0 0 0 1 5 2007-04-17 Q6K0P9 IFIX_HUMAN PYHIN1 Pyrin and HIN domain-containing protein 1 492 55.1 1 Nucleus 0 0 0 1 5 2008-05-20 Q6L8G9 KRA56_HUMAN KRTAP5-6 Keratin-associated protein 5-6 129 11.8 11 0 0 0 1 5 2004-12-21 Q6MZQ0 PRR5L_HUMAN PRR5L Proline-rich protein 5-like 368 40.8 11 0 0 0 1 5 2008-04-29 Q6N075 MFSD5_HUMAN SLC61A1 Solute carrier family 61 member 1 450 49.8 12 Cell membrane 12 0 0 1 5 2007-01-23 Q6NUN9 ZN746_HUMAN ZNF746 Zinc finger protein 746 644 69.1 7 Cytoplasm; Nucleus 0 0 0 1 5 2006-10-17 Q6NUP7 PP4R4_HUMAN PPP4R4 Serine/threonine-protein phosphatase 4 regulatory subunit 4 873 99.5 14 Cytoplasm 0 0 0 1 5 2007-12-04 Q6NXS1 IPP2B_HUMAN PPP1R2B Protein phosphatase inhibitor 2 family member B 205 23.1 5 0 0 0 1 5 2007-05-01 Q6NXT6 TAPT1_HUMAN TAPT1 Transmembrane anterior posterior transformation protein 1 homolog 567 64.3 4 Cytoplasm; Membrane 5 1 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 0 1 5 2008-04-08 Q6P158 DHX57_HUMAN DHX57 Putative ATP-dependent RNA helicase DHX57 1386 155.6 2 3.6.4.13 0 0 0 1 5 2006-05-02 Q6P1L6 ZN343_HUMAN ZNF343 Zinc finger protein 343 599 69.2 20 Nucleus 0 0 0 1 5 2005-11-08 Q6P1N0 C2D1A_HUMAN CC2D1A Coiled-coil and C2 domain-containing protein 1A 951 104.1 19 Cytoplasm; Nucleus 0 1 Intellectual developmental disorder, autosomal recessive 3 0 1 5 2006-06-13 Q6P2M8 KCC1B_HUMAN PNCK Calcium/calmodulin-dependent protein kinase type 1B 343 38.5 X 2.7.11.17 Cytoplasm; Nucleus 0 0 0 1 5 2005-02-01 Q6P531 GGT6_HUMAN GGT6 Glutathione hydrolase 6 493 50.5 17 3.4.19.13 Membrane 1 0 0 1 5 2008-01-15 Q6P9F7 LRC8B_HUMAN LRRC8B Volume-regulated anion channel subunit LRRC8B 803 92.4 1 Cell membrane; Endoplasmic reticulum membrane 4 0 0 1 5 2006-02-07 Q6PCB7 S27A1_HUMAN SLC27A1 Long-chain fatty acid transport protein 1 646 71.1 19 Cell membrane; Endomembrane system; Cytoplasm 1 0 0 1 5 2005-11-08 Q6PCE3 PGM2L_HUMAN PGM2L1 Glucose 1,6-bisphosphate synthase 622 70.4 11 2.7.1.106 Cytoplasm 0 1 Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities 0 1 5 2005-07-19 Q6PEY2 TBA3E_HUMAN TUBA3E Tubulin alpha-3E chain 450 49.9 2 3.6.5.- Cytoplasm 0 0 0 1 5 2007-07-10 Q6PF06 TM10B_HUMAN TRMT10B tRNA methyltransferase 10 homolog B 316 36.1 9 2.1.1.221 0 0 0 1 5 2007-11-13 Q6PIL6 KCIP4_HUMAN KCNIP4 Kv channel-interacting protein 4 250 28.7 4 Cell membrane; Cytoplasm; Peroxisome 0 0 0 1 5 2005-08-16 Q6PIY7 GLD2_HUMAN TENT2 Poly(A) RNA polymerase GLD2 484 56 5 2.7.7.19 Cytoplasm; Nucleus 0 0 0 1 5 2008-06-10 Q6PKC3 TXD11_HUMAN TXNDC11 Thioredoxin domain-containing protein 11 985 110.5 16 Endoplasmic reticulum membrane 1 0 0 1 5 2005-07-05 Q6PKX4 DOK6_HUMAN DOK6 Docking protein 6 331 38.3 18 0 0 0 1 5 2005-05-10 Q6Q0C1 S2547_HUMAN SLC25A47 Solute carrier family 25 member 47 308 33.4 14 Mitochondrion inner membrane; Mitochondrion outer membrane 6 0 0 1 5 2007-06-26 Q6QHC5 DEGS2_HUMAN DEGS2 Sphingolipid delta(4)-desaturase/C4-monooxygenase DES2 323 37.2 14 1.14.18.5, 1.14.19.17 Endoplasmic reticulum membrane 3 0 0 1 5 2007-12-04 Q6QHK4 FIGLA_HUMAN FIGLA Factor in the germline alpha 219 24.1 2 Nucleus 0 1 Premature ovarian failure 6 0 1 5 2004-08-16 Q6R6M4 U17L2_HUMAN USP17L2 Ubiquitin carboxyl-terminal hydrolase 17 530 59.6 8 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 1 5 2008-04-29 Q6RI45 BRWD3_HUMAN BRWD3 Bromodomain and WD repeat-containing protein 3 1802 203.6 X 0 1 Intellectual developmental disorder, X-linked 93 0 1 5 2007-04-03 Q6S9Z5 ZN474_HUMAN ZNF474 Zinc finger protein 474 364 40.3 5 0 0 0 1 5 2007-04-03 Q6TCH4 PAQR6_HUMAN PAQR6 Membrane progestin receptor delta 344 38 1 Cell membrane 7 0 0 1 5 2004-08-31 Q6U841 S4A10_HUMAN SLC4A10 Sodium-driven chloride bicarbonate exchanger 1118 125.9 2 Basolateral cell membrane; Apical cell membrane; Cell projection; Perikaryon; Presynapse; Postsynapse 12 1 Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities 0 1 5 2006-07-11 Q6UWB4 PRS55_HUMAN PRSS55 Serine protease 55 352 38.9 8 3.4.21.- Cell membrane; Cytoplasm 0 0 0 1 5 2008-04-08 Q6UX39 AMTN_HUMAN AMTN Amelotin 209 21.6 4 Secreted 0 1 Amelogenesis imperfecta 3B 0 1 5 2004-11-23 Q6UXF1 TM108_HUMAN TMEM108 Transmembrane protein 108 575 59.9 3 Membrane; Postsynaptic density; Endosome membrane; Cell projection; Early endosome 2 0 0 1 5 2006-06-27 Q6UXG3 CLM9_HUMAN CD300LG CMRF35-like molecule 9 332 36.1 17 Apical cell membrane; Basolateral cell membrane; Endosome 1 0 0 1 5 2007-10-02 Q6UXG8 BTNL9_HUMAN BTNL9 Butyrophilin-like protein 9 535 59.7 5 Membrane 1 0 0 1 5 2005-02-01 Q6UXH1 CREL2_HUMAN CRELD2 Protein disulfide isomerase CRELD2 353 38.2 22 5.3.4.1 Endoplasmic reticulum 0 0 0 1 5 2006-10-31 Q6UY14 ATL4_HUMAN ADAMTSL4 ADAMTS-like protein 4 1074 116.5 1 Secreted 0 2 Ectopia lentis 2, isolated, autosomal recessive; Ectopia lentis et pupillae 0 1 5 2006-10-31 Q6VVB1 NHLC1_HUMAN NHLRC1 E3 ubiquitin-protein ligase NHLRC1 395 42.3 6 2.3.2.27 Endoplasmic reticulum; Nucleus 0 1 Myoclonic epilepsy of Lafora 2 0 1 5 2004-07-19 Q6WRI0 IGS10_HUMAN IGSF10 Immunoglobulin superfamily member 10 2623 290.8 3 Secreted 0 0 0 1 5 2007-05-15 Q6XE24 RBMS3_HUMAN RBMS3 RNA-binding motif, single-stranded-interacting protein 3 437 47.8 3 Cytoplasm 0 0 0 1 5 2007-02-06 Q6Y288 B3GLT_HUMAN B3GLCT Beta-1,3-glucosyltransferase 498 56.6 13 2.4.1.- Endoplasmic reticulum membrane 1 1 Peters-plus syndrome 0 1 5 2006-10-17 Q6ZMN7 PZRN4_HUMAN PDZRN4 PDZ domain-containing RING finger protein 4 1036 117.1 12 0 0 0 1 5 2005-02-01 Q6ZNG0 ZN620_HUMAN ZNF620 Zinc finger protein 620 422 48.5 3 Nucleus 0 0 0 1 5 2005-11-08 Q6ZPD9 D19L3_HUMAN DPY19L3 Protein C-mannosyl-transferase DPY19L3 716 83.2 19 2.4.1.- Endoplasmic reticulum membrane 11 0 0 1 5 2007-12-04 Q6ZSZ5 ARHGI_HUMAN ARHGEF18 Rho guanine nucleotide exchange factor 18 1361 151.6 19 Cytoplasm; Cell membrane; Apical cell membrane 0 1 Retinitis pigmentosa 78 0 1 5 2008-06-10 Q6ZT12 UBR3_HUMAN UBR3 E3 ubiquitin-protein ligase UBR3 1888 212.4 2 2.3.2.27 Membrane 3 0 0 1 5 2007-02-20 Q6ZT89 S2548_HUMAN SLC25A48 Solute carrier family 25 member 48 311 33.4 5 Mitochondrion membrane; Mitochondrion inner membrane 6 0 0 1 5 2008-03-18 Q6ZTU2 E400N_HUMAN EP400P1 Putative chromatin regulator EP400P1 488 51.8 Nucleus 0 0 0 1 5 2008-02-05 Q6ZUT3 FRMD7_HUMAN FRMD7 FERM domain-containing protein 7 714 81.6 X Cell projection 0 1 Nystagmus 1, congenital, X-linked 0 1 5 2006-10-31 Q6ZV29 PLPL7_HUMAN PNPLA7 Patatin-like phospholipase domain-containing protein 7 1317 145.7 9 3.1.1.-, 3.1.1.5 Endoplasmic reticulum membrane; Lipid droplet 1 0 0 1 5 2007-07-10 Q6ZVD8 PHLP2_HUMAN PHLPP2 PH domain leucine-rich repeat-containing protein phosphatase 2 1323 146.8 16 3.1.3.16 Cytoplasm; Membrane; Nucleus 0 0 0 1 5 2005-06-07 Q6ZW31 SYDE1_HUMAN SYDE1 Rho GTPase-activating protein SYDE1 735 79.8 19 0 0 0 1 5 2007-12-04 Q6ZWH5 NEK10_HUMAN NEK10 Serine/threonine-protein kinase Nek10 1172 133.3 3 2.7.11.1 0 1 Ciliary dyskinesia, primary, 44 0 1 5 2006-11-28 Q702N8 XIRP1_HUMAN XIRP1 Xin actin-binding repeat-containing protein 1 1843 198.6 3 Cell junction 0 0 0 1 5 2008-02-05 Q70CQ4 UBP31_HUMAN USP31 Ubiquitin carboxyl-terminal hydrolase 31 1352 146.7 16 3.4.19.12 0 0 0 1 5 2006-09-19 Q71H61 ILDR2_HUMAN ILDR2 Immunoglobulin-like domain-containing receptor 2 639 71.2 1 Endoplasmic reticulum membrane; Cell junction; Nucleus 1 0 0 1 5 2007-02-20 Q71UM5 RS27L_HUMAN RPS27L Ribosomal protein eS27-like 84 9.5 15 0 0 0 1 5 2004-08-16 Q7KZN9 COX15_HUMAN COX15 Heme A synthase COX15 410 46 10 1.17.99.9 Mitochondrion inner membrane 8 1 Mitochondrial complex IV deficiency, nuclear type 6 0 1 5 2004-08-16 Q7L4P6 BEND5_HUMAN BEND5 BEN domain-containing protein 5 421 48.2 1 0 0 0 1 5 2007-02-06 Q7L591 DOK3_HUMAN DOK3 Docking protein 3 496 53.3 5 Cytoplasm; Cell membrane 0 0 0 1 5 2005-05-10 Q7L5A8 FA2H_HUMAN FA2H Fatty acid 2-hydroxylase 372 42.8 16 1.14.18.- Endoplasmic reticulum membrane; Microsome membrane 4 1 Spastic paraplegia 35, autosomal recessive, with or without neurodegeneration 0 1 5 2007-12-04 Q7L622 G2E3_HUMAN G2E3 G2/M phase-specific E3 ubiquitin-protein ligase 706 80.5 14 2.3.2.26 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 2006-09-05 Q7L7X3 TAOK1_HUMAN TAOK1 Serine/threonine-protein kinase TAO1 1001 116.1 17 2.7.11.1 Cytoplasm 0 1 Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 5 2005-10-25 Q7L9L4 MOB1B_HUMAN MOB1B MOB kinase activator 1B 216 25.1 4 Cytoplasm; Nucleus 0 0 0 1 5 2004-12-21 Q7RTM1 OTOP1_HUMAN OTOP1 Proton channel OTOP1 612 67.4 4 Cell membrane; Cell projection 12 0 0 1 5 2008-01-15 Q7RTS5 OTOP3_HUMAN OTOP3 Proton channel OTOP3 596 66.3 17 Cell membrane 12 0 0 1 5 2008-01-15 Q7RTT9 S29A4_HUMAN SLC29A4 Equilibrative nucleoside transporter 4 530 58.1 7 Cell membrane; Apical cell membrane 10 0 0 1 5 2008-03-18 Q7RTU7 SCX_HUMAN SCX Basic helix-loop-helix transcription factor scleraxis 201 21.6 8 Nucleus 0 0 0 1 5 2007-01-23 Q7RTX7 CTSR4_HUMAN CATSPER4 Cation channel sperm-associated protein 4 472 54.1 1 Cell projection 6 0 0 1 5 2007-07-24 Q7RTY1 MOT9_HUMAN SLC16A9 Monocarboxylate transporter 9 509 55.8 10 Cell membrane 12 0 0 1 5 2007-05-29 Q7Z2K6 ERMP1_HUMAN ERMP1 Endoplasmic reticulum metallopeptidase 1 904 100.2 9 3.4.-.- Endoplasmic reticulum membrane 9 0 0 1 5 2006-10-31 Q7Z2T5 TRM1L_HUMAN TRMT1L tRNA (guanine(27)-N(2))-dimethyltransferase 733 81.7 1 2.1.1.- Nucleus 0 0 0 1 5 2008-02-05 Q7Z3G6 PRIC2_HUMAN PRICKLE2 Prickle-like protein 2 844 95.6 3 Postsynaptic density; Cell projection; Nucleus 0 0 0 1 5 2005-02-01 Q7Z3Y7 K1C28_HUMAN KRT28 Keratin, type I cytoskeletal 28 464 50.6 17 Cytoplasm 0 0 0 1 5 2007-12-04 Q7Z3Z0 K1C25_HUMAN KRT25 Keratin, type I cytoskeletal 25 450 49.3 17 Cytoplasm 0 1 Woolly hair autosomal recessive 3 0 1 5 2007-12-04 Q7Z412 PEX26_HUMAN PEX26 Peroxisome assembly protein 26 305 33.9 22 Peroxisome membrane 1 3 Peroxisome biogenesis disorder complementation group 8; Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 0 1 5 2004-05-24 Q7Z442 PK1L2_HUMAN PKD1L2 Polycystin-1-like protein 2 2459 272.5 16 Membrane 12 0 0 1 5 2008-02-26 Q7Z449 CP2U1_HUMAN CYP2U1 Cytochrome P450 2U1 544 62 4 Endoplasmic reticulum membrane; Microsome membrane; Mitochondrion inner membrane 5 1 Spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum 0 1 5 2007-06-26 Q7Z569 BRAP_HUMAN BRAP BRCA1-associated protein 592 67.3 12 2.3.2.27 Cytoplasm 0 0 0 1 5 2004-07-19 Q7Z5A7 TAFA5_HUMAN TAFA5 Chemokine-like protein TAFA-5 132 14.3 22 Secreted 0 0 0 1 5 2005-11-08 Q7Z6I5 SPT12_HUMAN SPATA12 Spermatogenesis-associated protein 12 190 20.4 3 0 0 0 1 5 2006-10-03 Q7Z6J6 FRMD5_HUMAN FRMD5 FERM domain-containing protein 5 570 65.1 15 Membrane; Cell junction 1 1 Neurodevelopmental disorder with eye movement abnormalities and ataxia 0 1 5 2006-07-25 Q7Z6J8 UBE3D_HUMAN UBE3D E3 ubiquitin-protein ligase E3D 389 43.7 6 2.3.2.26 Cytoplasm 0 0 0 1 5 2007-11-13 Q7Z6M1 RABEK_HUMAN RABEPK Rab9 effector protein with kelch motifs 372 40.6 9 Cytoplasm; Endosome membrane 0 0 0 1 5 2007-03-20 Q7Z6R9 AP2D_HUMAN TFAP2D Transcription factor AP-2-delta 452 49.6 6 Nucleus 0 0 0 1 5 2007-11-13 Q7Z7A3 CTU1_HUMAN CTU1 Cytoplasmic tRNA 2-thiolation protein 1 348 36.5 19 2.7.7.- Cytoplasm 0 0 0 1 5 2007-04-03 Q7Z7C7 STRA8_HUMAN STRA8 Stimulated by retinoic acid gene 8 protein homolog 330 36.9 7 Cytoplasm; Nucleus 0 0 0 1 5 2008-02-05 Q7Z7M9 GALT5_HUMAN GALNT5 Polypeptide N-acetylgalactosaminyltransferase 5 940 106.3 2 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q86SE5 RALYL_HUMAN RALYL RNA-binding Raly-like protein 291 32.3 8 0 0 0 1 5 2007-09-11 Q86SQ7 SDCG8_HUMAN SDCCAG8 Serologically defined colon cancer antigen 8 713 82.7 1 Cytoplasm; Cell junction 0 2 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 0 1 5 2006-01-10 Q86SU0 ILDR1_HUMAN ILDR1 Immunoglobulin-like domain-containing receptor 1 546 62.8 3 Cell membrane; Cell junction; Cytoplasm 1 1 Deafness, autosomal recessive, 42 0 1 5 2006-07-11 Q86T13 CLC14_HUMAN CLEC14A C-type lectin domain family 14 member A 490 51.6 14 Membrane 1 0 0 1 5 2003-09-09 Q86T65 DAAM2_HUMAN DAAM2 Disheveled-associated activator of morphogenesis 2 1068 123.5 6 0 1 Nephrotic syndrome 24 0 1 5 2003-08-15 Q86T90 K1328_HUMAN KIAA1328 Protein hinderin 577 65.4 18 0 0 0 1 5 2007-12-04 Q86TG1 T150A_HUMAN TMEM150A Transmembrane protein 150A 271 28.8 2 Cell membrane 6 0 0 1 5 2007-02-06 Q86U28 ISCA2_HUMAN ISCA2 Iron-sulfur cluster assembly 2 homolog, mitochondrial 154 16.5 14 Mitochondrion 0 1 Multiple mitochondrial dysfunctions syndrome 4 0 1 5 2007-02-06 Q86UF1 TSN33_HUMAN TSPAN33 Tetraspanin-33 283 31.5 7 Cell membrane; Cell junction; Cytoplasm 4 0 0 1 5 2007-04-03 Q86UG4 SO6A1_HUMAN SLCO6A1 Solute carrier organic anion transporter family member 6A1 719 79.2 5 Cell membrane 12 0 0 1 5 2007-10-23 Q86UK0 ABCAC_HUMAN ABCA12 Glucosylceramide transporter ABCA12 2595 293.2 2 7.6.2.1 Cytoplasmic vesicle; Golgi apparatus membrane 14 2 Ichthyosis, congenital, autosomal recessive 4A; Ichthyosis, congenital, autosomal recessive 4B 0 1 5 2004-08-16 Q86UN6 AKA28_HUMAN AKAP14 A-kinase anchor protein 14 197 22.8 X Cytoplasm 0 0 0 1 5 2004-04-13 Q86UP3 ZFHX4_HUMAN ZFHX4 Zinc finger homeobox protein 4 3567 393.7 8 Nucleus 0 0 0 1 5 2007-02-20 Q86UQ4 ABCAD_HUMAN ABCA13 ATP-binding cassette sub-family A member 13 5058 576.2 7 7.6.2.- Cytoplasmic vesicle membrane 14 0 0 1 5 2006-10-17 Q86V40 TIKI1_HUMAN TRABD2A Metalloprotease TIKI1 505 57.7 2 3.4.-.- Cell membrane; Membrane raft 0 0 0 1 5 2008-03-18 Q86V86 PIM3_HUMAN PIM3 Serine/threonine-protein kinase pim-3 326 35.9 22 2.7.11.1 Cytoplasm 0 0 0 1 5 2003-11-21 Q86VF7 NRAP_HUMAN NRAP Nebulin-related-anchoring protein 1730 197.1 10 0 0 0 1 5 2006-10-03 Q86VZ6 JAZF1_HUMAN JAZF1 Juxtaposed with another zinc finger protein 1 243 27.1 7 Nucleus 0 0 0 1 5 2003-07-11 Q86WI1 PKHL1_HUMAN PKHD1L1 Fibrocystin-L 4243 465.7 8 Membrane; Cell projection 1 1 Deafness, autosomal recessive, 124 0 1 5 2008-02-05 Q86X02 CDR2L_HUMAN CDR2L Cerebellar degeneration-related protein 2-like 465 53 17 0 0 0 1 5 2007-10-23 Q86Y13 DZIP3_HUMAN DZIP3 E3 ubiquitin-protein ligase DZIP3 1208 138.6 3 2.3.2.27 Cytoplasm 0 0 0 1 5 2004-07-19 Q86YD1 PTOV1_HUMAN PTOV1 Prostate tumor-overexpressed gene 1 protein 416 46.9 19 Cytoplasm; Nucleus; Cell membrane 0 0 0 1 5 2007-10-02 Q86YF9 DZIP1_HUMAN DZIP1 Cilium assembly protein DZIP1 867 98.7 13 Cytoplasm; Nucleus; Nucleus speckle 0 2 Mitral valve prolapse 3; Spermatogenic failure 47 0 1 5 2004-07-19 Q86YJ7 AN13B_HUMAN ANKRD13B Ankyrin repeat domain-containing protein 13B 626 70.2 17 Cell membrane; Late endosome; Early endosome 0 0 0 1 5 2006-06-27 Q86YM7 HOME1_HUMAN HOMER1 Homer protein homolog 1 354 40.3 5 Cytoplasm; Postsynaptic density; Synapse; Cell projection 0 0 0 1 5 2003-11-28 Q86YR7 MF2L2_HUMAN MCF2L2 Probable guanine nucleotide exchange factor MCF2L2 1114 127 3 0 1 Type 2 diabetes mellitus 0 1 5 2008-05-20 Q86YT9 JAML_HUMAN JAML Junctional adhesion molecule-like 394 44.3 11 Cell membrane; Cell junction 1 0 0 1 5 2005-07-19 Q86YV9 HPS6_HUMAN HPS6 BLOC-2 complex member HPS6 775 83 10 Microsome membrane; Cytoplasm; Early endosome membrane; Lysosome membrane 0 1 Hermansky-Pudlak syndrome 6 0 1 5 2004-05-10 Q8IUB9 KR191_HUMAN KRTAP19-1 Keratin-associated protein 19-1 90 9 21 0 0 0 1 5 2003-07-03 Q8IUE6 H2A2B_HUMAN H2AC21 Histone H2A type 2-B 130 14 1 Nucleus; Chromosome 0 0 0 1 5 2006-03-07 Q8IUX8 EGFL6_HUMAN EGFL6 Epidermal growth factor-like protein 6 553 61.3 X Secreted 0 0 0 1 5 2007-07-24 Q8IVF4 DYH10_HUMAN DNAH10 Dynein axonemal heavy chain 10 4471 514.8 12 Cytoplasm 0 1 Spermatogenic failure 56 0 1 5 2008-02-26 Q8IVJ1 S41A1_HUMAN SLC41A1 Solute carrier family 41 member 1 513 54.9 1 Cell membrane; Basolateral cell membrane 10 1 Nephronophthisis-like nephropathy 2 0 1 5 2007-07-10 Q8IVL0 NAV3_HUMAN NAV3 Neuron navigator 3 2385 255.6 12 Nucleus outer membrane; Cytoplasm 0 1 Neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities 0 1 5 2007-05-15 Q8IW35 CEP97_HUMAN CEP97 Centrosomal protein of 97 kDa 865 97 3 Cytoplasm 0 0 0 1 5 2006-12-12 Q8IW52 SLIK4_HUMAN SLITRK4 SLIT and NTRK-like protein 4 837 94.3 X Membrane; Cell membrane 1 0 0 1 5 2004-04-13 Q8IWB1 IPRI_HUMAN ITPRIP Inositol 1,4,5-trisphosphate receptor-interacting protein 547 62.1 10 Cell membrane; Nucleus outer membrane 1 0 0 1 5 2007-07-10 Q8IWE2 NXP20_HUMAN FAM114A1 Protein NOXP20 563 60.7 4 Cytoplasm 0 0 0 1 5 2007-02-06 Q8IWL2 SFTA1_HUMAN SFTPA1 Pulmonary surfactant-associated protein A1 248 26.2 10 Secreted 0 2 Interstitial lung disease 1; Respiratory distress syndrome in premature infants 0 1 5 1988-04-01 Q8IWU5 SULF2_HUMAN SULF2 Extracellular sulfatase Sulf-2 870 100.5 20 Endoplasmic reticulum; Golgi apparatus; Cell surface 0 0 0 1 5 2003-07-19 Q8IWZ6 BBS7_HUMAN BBS7 BBSome complex member BBS7 715 80.4 4 Cell projection; Cytoplasm 0 1 Bardet-Biedl syndrome 7 0 1 5 2003-11-07 Q8IX12 CCAR1_HUMAN CCAR1 Cell division cycle and apoptosis regulator protein 1 1150 132.8 10 Cytoplasm 0 0 0 1 5 2006-05-02 Q8IXV7 KLD8B_HUMAN KLHDC8B Kelch domain-containing protein 8B 354 37.7 3 Cytoplasm; Midbody 0 1 Lymphoma, Hodgkin, classic 0 1 5 2005-12-20 Q8IXW0 LMTD2_HUMAN LMNTD2 Lamin tail domain-containing protein 2 634 70.4 11 0 0 0 1 5 2006-10-03 Q8IY84 NIM1_HUMAN NIM1K Serine/threonine-protein kinase NIM1 436 49.6 5 2.7.11.1 0 0 0 1 5 2006-07-25 Q8IYA8 IHO1_HUMAN IHO1 Interactor of HORMAD1 protein 1 594 66.3 3 Chromosome 0 0 0 1 5 2007-09-11 Q8IYG6 LRC56_HUMAN LRRC56 Leucine-rich repeat-containing protein 56 542 58.7 11 Cell projection 0 1 Ciliary dyskinesia, primary, 39 0 1 5 2006-04-04 Q8IYM9 TRI22_HUMAN TRIM22 E3 ubiquitin-protein ligase TRIM22 498 56.9 11 2.3.2.27 Cytoplasm; Nucleus; Nucleus speckle 0 0 0 1 5 2004-05-24 Q8IYP9 ZDH23_HUMAN ZDHHC23 Palmitoyltransferase ZDHHC23 409 46 3 2.3.1.225 Golgi apparatus membrane; Golgi apparatus 7 0 0 1 5 2005-11-22 Q8IYT2 CMTR2_HUMAN CMTR2 Cap-specific mRNA (nucleoside-2'-O-)-methyltransferase 2 770 88.1 16 2.1.1.296 Nucleus; Cytoplasm 0 0 0 1 5 2008-03-18 Q8IYT3 CC170_HUMAN CCDC170 Coiled-coil domain-containing protein 170 715 82.3 6 Golgi apparatus 0 0 0 1 5 2006-10-31 Q8IYX7 SAXO1_HUMAN SAXO1 Stabilizer of axonemal microtubules 1 474 54.6 9 Cytoplasm 0 0 0 1 5 2005-08-16 Q8IZD6 S22AF_HUMAN SLC22A15 Solute carrier family 22 member 15 547 60.5 1 Cell membrane 12 0 0 1 5 2008-06-10 Q8IZE3 PACE1_HUMAN SCYL3 Protein-associating with the carboxyl-terminal domain of ezrin 742 82.9 1 Cytoplasm; Golgi apparatus; Cell projection 0 0 0 1 5 2005-03-15 Q8IZF2 AGRF5_HUMAN ADGRF5 Adhesion G protein-coupled receptor F5 1346 149.5 6 Cell membrane 7 0 0 1 5 2004-07-19 Q8IZF5 AGRF3_HUMAN ADGRF3 Adhesion G protein-coupled receptor F3 1079 116.3 2 Membrane 7 0 0 2 5 2005-02-15 Q8IZQ8 MYCD_HUMAN MYOCD Myocardin 938 102 17 Nucleus 0 1 Megabladder, congenital 0 1 5 2003-06-27 Q8IZT6 ASPM_HUMAN ASPM Abnormal spindle-like microcephaly-associated protein 3477 409.8 1 Cytoplasm; Nucleus 0 1 Microcephaly 5, primary, autosomal recessive 0 1 5 2004-07-05 Q8N0S2 SYCE1_HUMAN SYCE1 Synaptonemal complex central element protein 1 351 39.7 10 Nucleus; Chromosome 0 2 Premature ovarian failure 12; Spermatogenic failure, 15 0 1 5 2006-11-28 Q8N0V5 GCNT2_HUMAN GCNT2 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase 402 45.9 6 2.4.1.150 Golgi apparatus membrane 1 1 Cataract 13, with adult i phenotype 0 1 5 2010-06-15 Q8N103 TAGAP_HUMAN TAGAP T-cell activation Rho GTPase-activating protein 731 80.7 6 0 0 0 1 5 2005-10-11 Q8N119 MMP21_HUMAN MMP21 Matrix metalloproteinase-21 569 65 10 3.4.24.- Secreted 0 1 Heterotaxy, visceral, 7, autosomal 0 2 5 2004-07-19 Q8N145 LGI3_HUMAN LGI3 Leucine-rich repeat LGI family member 3 548 61.7 8 Secreted; Cytoplasmic vesicle; Synapse; Cell projection 0 1 Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 0 1 5 2003-07-03 Q8N165 PDK1L_HUMAN PDIK1L Serine/threonine-protein kinase PDIK1L 341 38.5 1 2.7.11.1 Nucleus 0 0 0 1 5 2006-01-24 Q8N1B3 CCNQ_HUMAN CCNQ Cyclin-Q 248 28.4 X 0 1 Toe syndactyly, telecanthus, and anogenital and renal malformations 0 1 5 2007-08-21 Q8N264 RHG24_HUMAN ARHGAP24 Rho GTPase-activating protein 24 748 84.3 4 Cytoplasm; Cell junction; Cell projection 0 0 0 1 5 2007-03-20 Q8N370 LAT4_HUMAN SLC43A2 Large neutral amino acids transporter small subunit 4 569 62.7 17 Cell membrane; Basolateral cell membrane 12 0 0 1 5 2007-10-23 Q8N392 RHG18_HUMAN ARHGAP18 Rho GTPase-activating protein 18 663 75 6 Cytoplasm 0 0 0 1 5 2006-07-11 Q8N3D4 EH1L1_HUMAN EHBP1L1 EH domain-binding protein 1-like protein 1 1523 161.9 11 Endosome 0 0 0 1 5 2007-05-01 Q8N3J6 CADM2_HUMAN CADM2 Cell adhesion molecule 2 435 47.6 3 Cell membrane; Synapse; Cell projection 1 0 0 1 5 2007-06-26 Q8N3P4 VPS8_HUMAN VPS8 Vacuolar protein sorting-associated protein 8 homolog 1428 161.8 3 Early endosome 0 0 0 1 5 2007-02-20 Q8N3Y3 LARG2_HUMAN LARGE2 Xylosyl- and glucuronyltransferase LARGE2 721 81.8 11 2.4.-.- Golgi apparatus membrane 1 0 0 1 5 2006-03-07 Q8N413 S2545_HUMAN SLC25A45 Methylated amino-acid transporter SLC25A45 288 31.9 11 Mitochondrion inner membrane 6 0 0 1 5 2007-06-26 Q8N428 GLT16_HUMAN GALNT16 Polypeptide N-acetylgalactosaminyltransferase 16 558 63.1 14 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q8N4C6 NIN_HUMAN NIN Ninein 2090 243.2 14 Cytoplasm; Cell junction 0 1 Seckel syndrome 7 0 1 5 2004-07-19 Q8N4F0 BPIB2_HUMAN BPIFB2 BPI fold-containing family B member 2 458 49.2 20 Secreted 0 0 0 1 5 2003-08-29 Q8N4L1 T151A_HUMAN TMEM151A Transmembrane protein 151A 468 51.3 11 Endoplasmic reticulum membrane; Cell projection; Cell membrane; Endosome membrane 2 1 Episodic kinesigenic dyskinesia 3 0 1 5 2007-04-03 Q8N4L8 CCD24_HUMAN CCDC24 Coiled-coil domain-containing protein 24 307 34.3 1 0 0 0 1 5 2006-05-02 Q8N4N8 KIF2B_HUMAN KIF2B Kinesin-like protein KIF2B 673 76.3 17 Cytoplasm; Chromosome 0 0 0 1 5 2006-10-17 Q8N4T0 CBPA6_HUMAN CPA6 Carboxypeptidase A6 437 51 8 3.4.17.- Secreted 0 2 Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11 0 1 5 2003-11-07 Q8N4U5 T11L2_HUMAN TCP11L2 T-complex protein 11-like protein 2 519 58.1 12 Cytoplasm 0 0 0 1 5 2008-01-15 Q8N4W9 ZN808_HUMAN ZNF808 Zinc finger protein 808 903 104.8 19 Nucleus 0 0 0 1 5 2007-10-02 Q8N565 MREG_HUMAN MREG Melanoregulin 214 24.9 2 Apical cell membrane; Melanosome membrane; Lysosome membrane; Cytoplasmic vesicle membrane 0 0 0 1 5 2007-06-26 Q8N5B7 CERS5_HUMAN CERS5 Ceramide synthase 5 392 45.8 12 Endoplasmic reticulum membrane 6 0 0 1 5 2004-08-16 Q8N5I2 ARRD1_HUMAN ARRDC1 Arrestin domain-containing protein 1 433 46 9 Cell membrane 0 0 0 1 5 2006-06-27 Q8N5M1 ATPF2_HUMAN ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 289 32.8 17 Mitochondrion inner membrane 0 1 Mitochondrial complex V deficiency, nuclear type 1 0 1 5 2005-08-30 Q8N635 MEIOB_HUMAN MEIOB Meiosis-specific with OB domain-containing protein 442 49.3 16 3.1.-.- Cytoplasm; Nucleus; Chromosome 0 2 Spermatogenic failure 22; Premature ovarian failure 23 0 1 5 2008-05-20 Q8N682 DRAM1_HUMAN DRAM1 DNA damage-regulated autophagy modulator protein 1 238 26.3 12 Lysosome membrane 6 0 0 1 5 2007-05-15 Q8N693 ESX1_HUMAN ESX1 Homeobox protein ESX1 406 44.3 X Cytoplasm; Nucleus 0 0 0 1 5 2004-06-07 Q8N6F1 CLD19_HUMAN CLDN19 Claudin-19 224 23.2 1 Cell junction; Cell membrane 4 1 Hypomagnesemia 5, renal, with or without ocular involvement 0 1 5 2003-01-17 Q8N6I4 LYSET_HUMAN LYSET Lysosomal enzyme trafficking factor 163 18.7 14 Golgi apparatus membrane 2 1 Dysostosis multiplex, Ain-Naz type 0 1 5 2005-07-19 Q8N6T0 TO6BL_HUMAN TOP6BL Type 2 DNA topoisomerase 6 subunit B-like 511 57 11 Chromosome; Nucleus 0 1 Hydatidiform mole, recurrent, 4 0 1 5 2007-07-24 Q8N841 TTLL6_HUMAN TTLL6 Tubulin polyglutamylase TTLL6 891 101.3 17 6.3.2.- Cytoplasm 0 0 0 1 5 2008-03-18 Q8N8E3 CE112_HUMAN CEP112 Centrosomal protein of 112 kDa 955 112.7 17 Cytoplasm; Nucleus 0 1 Spermatogenic failure 44 0 1 5 2006-05-16 Q8N912 NRAC_HUMAN NRAC Nutritionally-regulated adipose and cardiac enriched protein homolog 160 18.1 14 Cell membrane 1 0 0 1 5 2008-03-18 Q8N966 ZDH22_HUMAN ZDHHC22 Palmitoyltransferase ZDHHC22 263 29.1 14 2.3.1.225 Endoplasmic reticulum membrane; Golgi apparatus membrane 5 0 0 1 5 2005-11-22 Q8N987 NECA1_HUMAN NECAB1 N-terminal EF-hand calcium-binding protein 1 351 40.6 8 Cytoplasm 0 0 0 1 5 2007-04-03 Q8N9F7 GDPD1_HUMAN GDPD1 Lysophospholipase D GDPD1 314 36.2 17 3.1.4.- Cytoplasm; Membrane; Endoplasmic reticulum 2 0 0 1 5 2006-10-03 Q8N9Q2 SR1IP_HUMAN SREK1IP1 Protein SREK1IP1 155 18.2 5 0 0 0 1 5 2007-12-04 Q8N9V6 ANR53_HUMAN ANKRD53 Ankyrin repeat domain-containing protein 53 530 59.6 2 Cytoplasm 0 0 0 1 5 2007-02-06 Q8NAM6 ZSCA4_HUMAN ZSCAN4 Zinc finger and SCAN domain-containing protein 4 433 49 19 Nucleus; Chromosome 0 0 0 1 5 2004-11-23 Q8NB12 SMYD1_HUMAN SMYD1 Histone-lysine N-methyltransferase SMYD1 490 56.6 2 2.1.1.354 Cytoplasm; Nucleus 0 0 0 1 5 2003-09-19 Q8NBL3 T178A_HUMAN TMEM178A Transmembrane protein 178A 297 33 2 Endoplasmic reticulum membrane 3 0 0 1 5 2007-05-15 Q8NBM8 PCYXL_HUMAN PCYOX1L Prenylcysteine oxidase 1-like 494 54.6 5 1.8.3.5 Secreted 0 0 0 1 5 2007-03-20 Q8NBN7 RDH13_HUMAN RDH13 Retinol dehydrogenase 13 331 35.9 19 1.1.1.300 Mitochondrion inner membrane 0 0 0 1 5 2003-08-29 Q8NC01 CLC1A_HUMAN CLEC1A C-type lectin domain family 1 member A 280 32 12 Membrane 1 0 0 1 5 2005-08-30 Q8NC42 RN149_HUMAN RNF149 E3 ubiquitin-protein ligase RNF149 400 43.2 2 2.3.2.27 Membrane 1 0 0 1 5 2006-11-28 Q8NCG5 CHST4_HUMAN CHST4 Carbohydrate sulfotransferase 4 386 45.1 16 2.8.2.- Golgi apparatus membrane 1 0 0 1 5 2005-03-15 Q8NCH0 CHSTE_HUMAN CHST14 Carbohydrate sulfotransferase 14 376 43 15 2.8.2.35 Golgi apparatus membrane 1 1 Ehlers-Danlos syndrome, musculocontractural type 1 0 1 5 2005-03-15 Q8NCL4 GALT6_HUMAN GALNT6 Polypeptide N-acetylgalactosaminyltransferase 6 622 71.2 12 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q8NCW5 NNRE_HUMAN NAXE NAD(P)H-hydrate epimerase 288 31.7 1 5.1.99.6 Mitochondrion; Secreted 0 1 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1 0 1 5 2007-06-26 Q8ND76 CCNY_HUMAN CCNY Cyclin-Y 341 39.3 10 Cell membrane 0 0 0 1 5 2005-08-02 Q8NDF8 PAPD5_HUMAN TENT4B Terminal nucleotidyltransferase 4B 572 63.3 16 Nucleus; Cytoplasm 0 0 0 1 5 2005-02-01 Q8NDQ6 ZN540_HUMAN ZNF540 Zinc finger protein 540 660 77.1 19 Nucleus; Cytoplasm 0 0 0 1 5 2005-11-08 Q8NDW8 TT21A_HUMAN TTC21A Tetratricopeptide repeat protein 21A 1320 150.9 3 0 1 Spermatogenic failure 37 0 1 5 2007-06-26 Q8NE63 HIPK4_HUMAN HIPK4 Homeodomain-interacting protein kinase 4 616 69.4 19 2.7.11.1 Cytoplasm 0 0 0 1 5 2006-04-04 Q8NEC5 CTSR1_HUMAN CATSPER1 Cation channel sperm-associated protein 1 780 90.1 11 Cell projection 6 1 Spermatogenic failure 7 0 1 5 2007-07-24 Q8NEP3 DAAF1_HUMAN DNAAF1 Dynein axonemal assembly factor 1 725 80 16 Cell projection; Cytoplasm 0 1 Ciliary dyskinesia, primary, 13 0 1 5 2006-04-18 Q8NES3 LFNG_HUMAN LFNG Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe 379 41.8 7 2.4.1.222 Golgi apparatus; Golgi apparatus membrane 1 1 Spondylocostal dysostosis 3, autosomal recessive 0 1 5 2003-01-10 Q8NEV1 CSK23_HUMAN CSNK2A3 Casein kinase II subunit alpha 3 391 45.2 11 2.7.11.1 0 0 0 1 5 2013-05-01 Q8NEV8 EXPH5_HUMAN EXPH5 Exophilin-5 1989 222.5 11 0 1 Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 0 1 5 2003-07-25 Q8NFA0 UBP32_HUMAN USP32 Ubiquitin carboxyl-terminal hydrolase 32 1604 181.7 17 3.4.19.12 Golgi apparatus membrane 0 0 0 1 5 2003-10-10 Q8NFB2 T185A_HUMAN TMEM185A Transmembrane protein 185A 350 40.6 X Cell projection; Membrane 7 0 0 1 5 2004-07-19 Q8NFC6 BD1L1_HUMAN BOD1L1 Biorientation of chromosomes in cell division protein 1-like 1 3051 330.5 4 Chromosome 0 0 0 1 5 2005-11-22 Q8NFU0 BEST4_HUMAN BEST4 Bestrophin-4 473 53.5 1 Cell membrane 4 0 0 1 5 2003-11-21 Q8NHG7 SVIP_HUMAN SVIP Small VCP/p97-interacting protein 77 8.4 11 Membrane; Smooth endoplasmic reticulum membrane; Golgi apparatus membrane; Cell membrane; Lysosome membrane 0 0 0 1 5 2005-08-30 Q8NHQ1 CEP70_HUMAN CEP70 Centrosomal protein of 70 kDa 597 69.8 3 Cytoplasm 0 0 0 1 5 2005-02-01 Q8NHY3 GA2L2_HUMAN GAS2L2 GAS2-like protein 2 880 96.5 17 Cytoplasm; Cell membrane 0 1 Ciliary dyskinesia, primary, 41 0 1 5 2005-08-30 Q8NI51 CTCFL_HUMAN CTCFL Transcriptional repressor CTCFL 663 75.7 20 Cytoplasm; Nucleus 0 0 0 1 5 2003-04-23 Q8TAE7 KCNG3_HUMAN KCNG3 Voltage-gated potassium channel regulatory subunit KCNG3 436 49.6 2 Cell membrane; Cytoplasm 6 0 0 1 5 2002-10-25 Q8TAM2 TTC8_HUMAN TTC8 Tetratricopeptide repeat protein 8 541 61.5 14 Cytoplasm; Cell projection 0 2 Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 0 1 5 2003-07-19 Q8TAP9 MPLKI_HUMAN MPLKIP M-phase-specific PLK1-interacting protein 179 19.1 7 Nucleus; Cytoplasm 0 1 Trichothiodystrophy 4, non-photosensitive 0 1 5 2005-07-19 Q8TAS1 UHMK1_HUMAN UHMK1 Serine/threonine-protein kinase Kist 419 46.5 1 2.7.11.1 Nucleus 0 0 0 1 5 2002-10-19 Q8TAV3 CP2W1_HUMAN CYP2W1 Cytochrome P450 2W1 490 53.8 7 1.14.14.- Endoplasmic reticulum lumen; Cell membrane; Microsome membrane 0 0 0 1 5 2004-07-19 Q8TAX0 OSR1_HUMAN OSR1 Protein odd-skipped-related 1 266 29.6 2 Nucleus 0 0 0 1 5 2006-01-24 Q8TB37 NUBPL_HUMAN NUBPL Iron-sulfur cluster transfer protein NUBPL 319 34.1 14 Mitochondrion 0 1 Mitochondrial complex I deficiency, nuclear type 21 0 1 5 2003-11-07 Q8TBA6 GOGA5_HUMAN GOLGA5 Golgin subfamily A member 5 731 83 14 Golgi apparatus membrane 1 0 0 1 5 2003-07-03 Q8TBE1 CNIH3_HUMAN CNIH3 Protein cornichon homolog 3 160 19 1 Postsynaptic cell membrane 3 0 0 1 5 2003-01-17 Q8TBJ4 PLPR1_HUMAN PLPPR1 Phospholipid phosphatase-related protein type 1 325 35.8 9 Cell membrane; Cell projection 6 0 0 1 5 2008-02-05 Q8TBM8 DJB14_HUMAN DNAJB14 DnaJ homolog subfamily B member 14 379 42.5 4 Endoplasmic reticulum membrane; Nucleus membrane 1 0 0 1 5 2007-03-20 Q8TBY0 RBM46_HUMAN RBM46 Probable RNA-binding protein 46 533 60 4 Cytoplasm 0 0 0 1 5 2007-10-02 Q8TBZ8 ZN564_HUMAN ZNF564 Zinc finger protein 564 553 63.7 19 Nucleus 0 0 0 1 5 2004-11-23 Q8TC20 CAGE1_HUMAN CAGE1 Cancer-associated gene 1 protein 777 90.3 6 0 0 0 1 5 2007-03-20 Q8TC71 MIEAP_HUMAN SPATA18 Mitochondria-eating protein 538 61.1 4 Cytoplasm; Mitochondrion outer membrane; Mitochondrion matrix 0 0 0 1 5 2006-10-31 Q8TC76 F110B_HUMAN FAM110B Protein FAM110B 370 40.7 8 Cytoplasm 0 0 0 1 5 2007-05-01 Q8TC94 ACTL9_HUMAN ACTL9 Actin-like protein 9 416 45.5 19 Cytoplasmic vesicle; Cytoplasm 0 1 Spermatogenic failure 53 0 1 5 2008-04-29 Q8TCT0 CERK1_HUMAN CERK Ceramide kinase 537 60 22 2.7.1.138 Cell membrane; Golgi apparatus 0 0 0 1 5 2003-04-23 Q8TCT7 SPP2B_HUMAN SPPL2B Signal peptide peptidase-like 2B 592 64.6 19 3.4.23.- Cell membrane; Golgi apparatus membrane; Lysosome membrane; Endosome membrane; Membrane 9 0 0 1 5 2002-11-08 Q8TD31 CCHCR_HUMAN CCHCR1 Coiled-coil alpha-helical rod protein 1 782 88.7 6 Cytoplasm; Nucleus 0 0 0 1 5 2004-02-16 Q8TDC3 BRSK1_HUMAN BRSK1 Serine/threonine-protein kinase BRSK1 778 85.1 19 2.7.11.1 Cytoplasm; Nucleus; Synapse; Presynaptic active zone; Cytoplasmic vesicle 0 0 0 1 5 2003-08-29 Q8TDG2 ACTT1_HUMAN ACTRT1 Actin-related protein T1 376 41.7 X Cytoplasm; Nucleus; Cytoplasmic vesicle 0 0 0 1 5 2006-10-31 Q8TDI7 TMC2_HUMAN TMC2 Transmembrane channel-like protein 2 906 102.6 20 Cell membrane 6 0 0 2 5 2002-10-19 Q8TDL5 BPIB1_HUMAN BPIFB1 BPI fold-containing family B member 1 484 52.4 20 Secreted 0 0 0 1 5 2003-08-29 Q8TDM5 SACA4_HUMAN SPACA4 Sperm acrosome membrane-associated protein 4 124 13 19 Cell membrane; Cytoplasmic vesicle 0 0 0 1 5 2006-10-17 Q8TDR2 STK35_HUMAN STK35 Serine/threonine-protein kinase 35 534 58.1 20 2.7.11.1 Nucleus; Cytoplasm 0 0 0 1 5 2003-01-27 Q8TDV0 GP151_HUMAN GPR151 G protein-coupled receptor 151 419 46.6 5 Cell membrane 7 0 0 1 5 2004-06-07 Q8TDW5 SYTL5_HUMAN SYTL5 Synaptotagmin-like protein 5 730 81.5 X Membrane 0 0 0 1 5 2003-07-25 Q8TDX6 CGAT1_HUMAN CSGALNACT1 Chondroitin sulfate N-acetylgalactosaminyltransferase 1 532 61.3 8 2.4.1.174 Golgi apparatus 1 1 Skeletal dysplasia, mild, with joint laxity and advanced bone age 0 1 5 2005-02-01 Q8TE58 ATS15_HUMAN ADAMTS15 A disintegrin and metalloproteinase with thrombospondin motifs 15 950 103.3 11 3.4.24.- Secreted; Cell surface 0 1 Arthrogryposis, distal, 12 0 1 5 2003-02-28 Q8TE85 GRHL3_HUMAN GRHL3 Grainyhead-like protein 3 homolog 626 70.3 1 Nucleus 0 1 Van der Woude syndrome 2 0 1 5 2006-03-21 Q8TEB1 DCA11_HUMAN DCAF11 DDB1- and CUL4-associated factor 11 546 61.7 14 0 0 0 1 5 2003-10-03 Q8TEL6 TP4AP_HUMAN TRPC4AP Short transient receptor potential channel 4-associated protein 797 90.9 20 Cytoplasm 0 0 0 1 5 2002-11-15 Q8TER0 SNED1_HUMAN SNED1 Sushi, nidogen and EGF-like domain-containing protein 1 1413 152.2 2 Secreted 0 0 0 1 5 2007-09-11 Q8TEU8 WFKN2_HUMAN WFIKKN2 WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 576 63.9 17 Secreted 0 0 0 1 5 2007-10-23 Q8TEW6 DOK4_HUMAN DOK4 Docking protein 4 326 37 16 0 0 0 1 5 2005-05-10 Q8TEZ7 PAQR8_HUMAN PAQR8 Membrane progestin receptor beta 354 40.5 6 Cell membrane 7 0 0 1 5 2004-08-16 Q8WTP8 AEN_HUMAN AEN Apoptosis-enhancing nuclease 325 36.4 15 3.1.-.- Nucleus 0 0 0 1 5 2008-03-18 Q8WTQ7 GRK7_HUMAN GRK7 Rhodopsin kinase GRK7 553 62.2 3 2.7.11.14 Membrane 0 0 0 1 5 2002-05-27 Q8WTX9 ZDHC1_HUMAN ZDHHC1 Palmitoyltransferase ZDHHC1 485 54.8 16 2.3.1.225 Endosome membrane; Endoplasmic reticulum membrane; Golgi apparatus 4 0 0 1 5 2003-02-01 Q8WU17 RN139_HUMAN RNF139 E3 ubiquitin-protein ligase RNF139 664 76 8 2.3.2.27 Endoplasmic reticulum membrane 12 1 Renal cell carcinoma 0 1 5 2005-12-06 Q8WUG5 S22AH_HUMAN SLC22A17 Solute carrier family 22 member 17 649 68.6 14 Cell membrane; Vacuole membrane 11 0 0 1 5 2003-01-17 Q8WUX9 CHMP7_HUMAN CHMP7 Charged multivesicular body protein 7 453 50.9 8 Cytoplasm; Nucleus envelope 0 0 0 1 5 2005-08-30 Q8WVE7 T170A_HUMAN TMEM170A Transmembrane protein 170A 144 15.3 16 Endoplasmic reticulum membrane; Nucleus envelope 3 0 0 1 5 2007-06-26 Q8WVJ9 TWST2_HUMAN TWIST2 Twist-related protein 2 160 18.1 2 Nucleus; Cytoplasm 0 3 Focal facial dermal dysplasia 3, Setleis type; Ablepharon-macrostomia syndrome; Barber-Say syndrome 0 1 5 2003-07-11 Q8WVP5 TP8L1_HUMAN TNFAIP8L1 Tumor necrosis factor alpha-induced protein 8-like protein 1 186 20.8 19 Cytoplasm 0 0 0 1 5 2007-05-01 Q8WVR3 TPC14_HUMAN TRAPPC14 Trafficking protein particle complex subunit 14 580 62.6 7 Cytoplasm; Vesicle; Midbody 0 1 Microcephaly 25, primary, autosomal recessive 0 1 5 2007-03-20 Q8WVZ1 ZDH19_HUMAN ZDHHC19 Palmitoyltransferase ZDHHC19 309 34.4 3 2.3.1.225 Golgi apparatus membrane; Cytoplasm; Cell membrane 4 0 0 1 5 2003-10-24 Q8WVZ9 KBTB7_HUMAN KBTBD7 Kelch repeat and BTB domain-containing protein 7 684 77.2 13 Cytoplasm; Nucleus 0 0 0 1 5 2004-03-15 Q8WWB5 PIHD2_HUMAN PIH1D2 PIH1 domain-containing protein 2 315 36 11 0 0 0 1 5 2007-10-23 Q8WWQ2 HPSE2_HUMAN HPSE2 Inactive heparanase-2 592 66.6 10 Secreted 0 1 Urofacial syndrome 1 0 1 5 2005-10-25 Q8WWR8 NEUR4_HUMAN NEU4 Sialidase-4 484 51.6 2 3.2.1.18 Cell membrane; Endoplasmic reticulum membrane; Microsome membrane; Mitochondrion membrane; Cell projection 0 0 0 1 5 2004-06-07 Q8WWU5 TCP11_HUMAN TCP11 T-complex protein 11 homolog 503 56.1 6 Membrane; Cell projection; Cytoplasmic vesicle 1 0 0 1 5 2008-03-18 Q8WXH2 JPH3_HUMAN JPH3 Junctophilin-3 748 81.5 16 Cell membrane; Endoplasmic reticulum membrane 1 1 Huntington disease-like 2 0 1 5 2003-01-17 Q8WXK4 ASB12_HUMAN ASB12 Ankyrin repeat and SOCS box protein 12 309 33.9 X 0 0 0 1 5 2002-05-10 Q8WXS5 CCG8_HUMAN CACNG8 Voltage-dependent calcium channel gamma-8 subunit 425 43.3 19 Cell membrane; Postsynaptic density membrane 5 0 0 1 5 2002-05-10 Q8WY21 SORC1_HUMAN SORCS1 VPS10 domain-containing receptor SorCS1 1168 129.6 10 Membrane 1 0 0 1 5 2002-12-13 Q8WZ55 BSND_HUMAN BSND Barttin 320 35.2 1 Basolateral cell membrane 2 1 Bartter syndrome 4A, neonatal, with sensorineural deafness 0 1 5 2004-10-11 Q8WZ59 TM190_HUMAN TMEM190 Transmembrane protein 190 177 19.5 19 Membrane 1 0 0 1 5 2007-12-04 Q92502 STAR8_HUMAN STARD8 StAR-related lipid transfer protein 8 1023 112.6 X Cell junction 0 0 0 1 5 2002-11-15 Q92529 SHC3_HUMAN SHC3 SHC-transforming protein 3 594 64.1 9 0 0 0 1 5 2004-03-29 Q92538 GBF1_HUMAN GBF1 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 1860 206.6 10 Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment; Cytoplasm; Lipid droplet; Membrane 0 1 Charcot-Marie-Tooth disease, axonal, type 2GG 0 1 5 2001-02-21 Q92543 SNX19_HUMAN SNX19 Sorting nexin-19 992 108.6 11 Early endosome membrane; Cytoplasmic vesicle membrane 0 0 0 1 5 1997-11-01 Q92544 TM9S4_HUMAN TM9SF4 Transmembrane 9 superfamily member 4 642 74.5 20 Membrane; Golgi apparatus; Early endosome 9 0 0 1 5 2001-04-27 Q92545 TM131_HUMAN TMEM131 Transmembrane protein 131 1883 205.1 2 Membrane 1 0 0 1 5 2001-01-11 Q92561 PHYIP_HUMAN PHYHIP Phytanoyl-CoA hydroxylase-interacting protein 330 37.6 8 0 0 0 1 5 1997-11-01 Q92567 F168A_HUMAN FAM168A Protein FAM168A 244 26.2 11 0 0 0 1 5 2004-04-26 Q92581 SL9A6_HUMAN SLC9A6 Sodium/hydrogen exchanger 6 701 77.9 X Endosome membrane; Recycling endosome membrane; Early endosome membrane; Late endosome membrane; Cell membrane 12 2 Intellectual developmental disorder, X-linked, syndromic, Christianson type; Neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment 0 1 5 2000-05-30 Q92604 LGAT1_HUMAN LPGAT1 Acyl-CoA:lysophosphatidylglycerol acyltransferase 1 370 43.1 1 Endoplasmic reticulum membrane 2 0 0 1 5 1999-07-15 Q92667 AKAP1_HUMAN AKAP1 A-kinase anchor protein 1, mitochondrial 903 97.3 17 Mitochondrion outer membrane; Mitochondrion 0 0 0 1 5 2000-05-30 Q92681 RSCA1_HUMAN RSC1A1 Regulatory solute carrier protein family 1 member 1 617 66.8 1 Cell membrane; Nucleus; Golgi apparatus 0 0 0 1 5 2008-03-18 Q92753 RORB_HUMAN RORB Nuclear receptor ROR-beta 470 53.2 9 Nucleus 0 1 Epilepsy, idiopathic generalized 15 0 1 5 1997-11-01 Q92851 CASPA_HUMAN CASP10 Caspase-10 521 59 2 3.4.22.63 0 3 Autoimmune lymphoproliferative syndrome 2A; Familial non-Hodgkin lymphoma; Gastric cancer 0 1 5 1997-11-01 Q92901 RL3L_HUMAN RPL3L Ribosomal protein uL3-like 407 46.3 16 0 1 Cardiomyopathy, dilated, 2D 0 1 5 1997-11-01 Q92903 CDS1_HUMAN CDS1 Phosphatidate cytidylyltransferase 1 461 53.3 4 2.7.7.41 Endoplasmic reticulum membrane 6 0 0 1 5 1997-11-01 Q92904 DAZL_HUMAN DAZL Deleted in azoospermia-like 295 33.2 3 Cytoplasm; Nucleus 0 0 0 1 5 2003-01-17 Q92930 RAB8B_HUMAN RAB8B Ras-related protein Rab-8B 207 23.6 15 3.6.5.2 Cell membrane; Cytoplasmic vesicle; Endosome membrane 0 0 0 1 5 1999-07-15 Q93033 IGSF2_HUMAN CD101 Immunoglobulin superfamily member 2 1021 115.1 1 Membrane 1 0 0 1 5 2006-10-17 Q93086 P2RX5_HUMAN P2RX5 P2X purinoceptor 5 444 49.3 17 Cell membrane 2 0 0 1 5 1997-11-01 Q93098 WNT8B_HUMAN WNT8B Protein Wnt-8b 351 38.7 10 Secreted 0 0 0 2 5 1997-11-01 Q969J2 ZKSC4_HUMAN ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 545 61.6 6 Nucleus 0 0 0 1 5 2002-09-19 Q969K3 RNF34_HUMAN RNF34 E3 ubiquitin-protein ligase RNF34 372 41.6 12 2.3.2.27 Cell membrane; Endomembrane system; Nucleus; Nucleus speckle; Cytoplasm 0 0 0 1 5 2005-09-27 Q969K7 TMM54_HUMAN TMEM54 Transmembrane protein 54 222 23.8 1 Membrane 4 0 0 1 5 2006-03-07 Q969M3 YIPF5_HUMAN YIPF5 Protein YIPF5 257 28 5 Endoplasmic reticulum membrane; Golgi apparatus; Cytoplasmic vesicle 5 1 Microcephaly, epilepsy, and diabetes syndrome 2 0 1 5 2006-05-16 Q969P6 TOP1M_HUMAN TOP1MT DNA topoisomerase I, mitochondrial 601 69.9 8 5.6.2.1 Mitochondrion 0 0 0 1 5 2002-01-31 Q969S2 NEIL2_HUMAN NEIL2 Endonuclease 8-like 2 332 36.8 8 3.2.2.-, 4.2.99.18 Nucleus 0 0 0 1 5 2004-12-07 Q969T4 UB2E3_HUMAN UBE2E3 Ubiquitin-conjugating enzyme E2 E3 207 22.9 2 2.3.2.23 Nucleus; Cytoplasm 0 0 0 1 5 2004-05-24 Q969X1 LFG3_HUMAN TMBIM1 Protein lifeguard 3 311 34.6 2 Membrane; Lysosome membrane; Endosome membrane 7 0 0 1 5 2003-11-21 Q96A29 FUCT1_HUMAN SLC35C1 GDP-fucose transporter 1 364 39.8 11 Golgi apparatus membrane 8 1 Congenital disorder of glycosylation 2C 0 1 5 2002-01-23 Q96AA3 RFT1_HUMAN RFT1 Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 541 60.3 3 Endoplasmic reticulum membrane 12 1 Congenital disorder of glycosylation 1N 0 1 5 2007-11-13 Q96AH8 RAB7B_HUMAN RAB7B Ras-related protein Rab-7b 199 22.5 1 Late endosome; Lysosome; Golgi apparatus; Cytoplasmic vesicle 0 0 0 1 5 2004-07-19 Q96AK3 ABC3D_HUMAN APOBEC3D DNA dC->dU-editing enzyme APOBEC-3D 386 46.6 22 3.5.4.38 Cytoplasm 0 0 0 1 5 2004-03-29 Q96AN5 TM143_HUMAN TMEM143 Transmembrane protein 143 459 51.7 19 Membrane 2 0 0 1 5 2007-05-01 Q96AQ6 PBIP1_HUMAN PBXIP1 Pre-B-cell leukemia transcription factor-interacting protein 1 731 80.6 1 Cytoplasm; Nucleus 0 0 0 1 5 2007-10-02 Q96B42 TMM18_HUMAN TMEM18 Transmembrane protein 18 140 16.3 2 Cytoplasm; Nucleus membrane 3 0 0 1 5 2007-04-17 Q96CM8 ACSF2_HUMAN ACSF2 Medium-chain acyl-CoA ligase ACSF2, mitochondrial 615 68.1 17 6.2.1.2 Mitochondrion 0 0 0 1 5 2008-01-15 Q96CN9 GCC1_HUMAN GCC1 GRIP and coiled-coil domain-containing protein 1 775 87.8 7 Cytoplasm; Golgi apparatus membrane 0 0 0 1 5 2003-07-11 Q96D05 F241B_HUMAN FAM241B Protein FAM241B 121 13.2 10 Membrane 1 0 0 1 5 2005-07-05 Q96D21 RHES_HUMAN RASD2 GTP-binding protein Rhes 266 30.4 22 Cell membrane 0 0 0 1 5 2002-06-06 Q96D53 COQ8B_HUMAN COQ8B Atypical kinase COQ8B, mitochondrial 544 60.1 19 2.7.-.- Mitochondrion membrane; Cytoplasm; Cell membrane 1 1 Nephrotic syndrome 9 0 1 5 2007-01-09 Q96D71 REPS1_HUMAN REPS1 RalBP1-associated Eps domain-containing protein 1 796 86.7 6 Membrane 0 1 Neurodegeneration with brain iron accumulation 7 0 1 5 2003-08-15 Q96DN2 VWCE_HUMAN VWCE von Willebrand factor C and EGF domain-containing protein 955 99.9 11 Secreted 0 0 0 1 5 2008-02-05 Q96DW6 S2538_HUMAN SLC25A38 Mitochondrial glycine transporter 304 33.6 3 Mitochondrion inner membrane 6 1 Anemia, sideroblastic, 2, pyridoxine-refractory 0 1 5 2007-06-26 Q96DZ7 T4S19_HUMAN TM4SF19 Transmembrane 4 L6 family member 19 209 22.4 3 Lysosome membrane; Cytoplasm; Cell projection 4 0 0 1 5 2005-06-21 Q96DZ9 CKLF5_HUMAN CMTM5 CKLF-like MARVEL transmembrane domain-containing protein 5 223 24.7 14 Membrane 4 0 0 1 5 2003-09-19 Q96EG1 ARSG_HUMAN ARSG Arylsulfatase G 525 57.1 17 3.1.6.1 Lysosome 0 1 Usher syndrome 4 0 1 5 2005-10-11 Q96EQ0 SGTB_HUMAN SGTB Small glutamine-rich tetratricopeptide repeat-containing protein beta 304 33.4 5 0 0 0 1 5 2004-01-16 Q96EV8 DTBP1_HUMAN DTNBP1 Dysbindin 351 39.5 6 Cytoplasm; Cytoplasmic vesicle membrane; Endosome membrane; Melanosome membrane; Postsynaptic density; Endoplasmic reticulum; Nucleus 0 1 Hermansky-Pudlak syndrome 7 0 1 5 2003-11-28 Q96F07 CYFP2_HUMAN CYFIP2 Cytoplasmic FMR1-interacting protein 2 1278 148.4 5 Cytoplasm; Nucleus; Synapse 0 1 Developmental and epileptic encephalopathy 65 0 1 5 2007-03-06 Q96F25 ALG14_HUMAN ALG14 UDP-N-acetylglucosamine transferase subunit ALG14 216 24.2 1 Endoplasmic reticulum membrane 1 3 Myasthenic syndrome, congenital, 15; Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies; Myopathy, epilepsy, and progressive cerebral atrophy 0 1 5 2006-12-12 Q96FN4 CPNE2_HUMAN CPNE2 Copine-2 548 61.2 16 Cytoplasm; Nucleus; Cell membrane 0 0 0 1 5 2002-11-28 Q96FS4 SIPA1_HUMAN SIPA1 Signal-induced proliferation-associated protein 1 1042 112.1 11 Nucleus; Cytoplasm; Endomembrane system 0 0 0 1 5 2002-05-02 Q96FT7 ASIC4_HUMAN ASIC4 Acid-sensing ion channel 4 539 59.3 2 Cell membrane 2 0 0 1 5 2005-09-13 Q96G03 PGM2_HUMAN PGM2 Phosphopentomutase 612 68.3 4 5.4.2.7 Cytoplasm 0 0 0 1 5 2005-07-19 Q96G30 MRAP2_HUMAN MRAP2 Melanocortin-2 receptor accessory protein 2 205 23.5 6 Cell membrane; Endoplasmic reticulum membrane 1 1 Obesity 0 1 5 2005-07-05 Q96G61 NUD11_HUMAN NUDT11 Diphosphoinositol polyphosphate phosphohydrolase 3-beta 164 18.6 X 3.6.1.52 Cytoplasm 0 0 0 1 5 2005-07-05 Q96G91 P2Y11_HUMAN P2RY11 P2Y purinoceptor 11 374 40.3 19 Cell membrane 7 0 0 1 5 2002-05-27 Q96GR2 ACBG1_HUMAN ACSBG1 Long-chain-fatty-acid--CoA ligase ACSBG1 724 81.3 15 6.2.1.3 Cytoplasm; Cytoplasmic vesicle; Microsome; Endoplasmic reticulum; Cell membrane 0 0 0 1 5 2008-01-15 Q96GW7 PGCB_HUMAN BCAN Brevican core protein 911 99.1 1 Secreted 0 0 0 1 5 2004-08-16 Q96H72 S39AD_HUMAN SLC39A13 Zinc transporter ZIP13 371 39 11 Golgi apparatus membrane; Cytoplasmic vesicle membrane; Endoplasmic reticulum membrane 8 1 Ehlers-Danlos syndrome, spondylodysplastic type, 3 0 1 5 2007-12-04 Q96H86 ZN764_HUMAN ZNF764 Zinc finger protein 764 408 44.9 16 Nucleus 0 0 0 1 5 2007-02-06 Q96HA9 PX11C_HUMAN PEX11G Peroxisomal membrane protein 11C 241 26.6 19 Peroxisome membrane 2 0 0 1 5 2005-04-26 Q96HF1 SFRP2_HUMAN SFRP2 Secreted frizzled-related protein 2 295 33.5 4 Secreted 0 0 0 1 5 2005-03-15 Q96IR7 HPDL_HUMAN HPDL 4-hydroxyphenylpyruvate dioxygenase-like protein 371 39.4 1 1.13.11.46 Mitochondrion 0 2 Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities; Spastic paraplegia 83, autosomal recessive 0 1 5 2007-01-09 Q96IT1 ZN496_HUMAN ZNF496 Zinc finger protein 496 587 66.9 1 Nucleus 0 0 0 1 5 2004-11-23 Q96JG8 MAGD4_HUMAN MAGED4 Melanoma-associated antigen D4 741 81.4 X 0 0 0 1 5 2004-01-16 Q96JW4 S41A2_HUMAN SLC41A2 Solute carrier family 41 member 2 573 62.5 12 Cell membrane 11 0 0 1 5 2007-07-10 Q96KK3 KCNS1_HUMAN KCNS1 Delayed-rectifier potassium channel regulatory subunit KCNS1 526 58.4 20 Cell membrane 6 0 0 1 5 2002-10-25 Q96KR7 PHAR3_HUMAN PHACTR3 Phosphatase and actin regulator 3 559 62.6 20 Nucleus matrix 0 0 0 1 5 2003-11-28 Q96L12 CALR3_HUMAN CALR3 Calreticulin-3 384 45 19 Endoplasmic reticulum lumen 0 0 0 1 5 2003-02-22 Q96L33 RHOV_HUMAN RHOV Rho-related GTP-binding protein RhoV 236 26.2 15 3.6.5.2 Cell membrane; Endosome membrane 0 0 0 1 5 2008-03-18 Q96LB4 VATG3_HUMAN ATP6V1G3 V-type proton ATPase subunit G 3 118 13.9 1 0 0 0 1 5 2002-01-31 Q96LC7 SIG10_HUMAN SIGLEC10 Sialic acid-binding Ig-like lectin 10 697 76.6 19 Cell membrane 1 0 0 1 5 2002-11-08 Q96LX8 ZN597_HUMAN ZNF597 Zinc finger protein 597 424 48.1 16 Nucleus 0 0 0 1 5 2005-07-19 Q96M94 KLH15_HUMAN KLHL15 Kelch-like protein 15 604 69.8 X Nucleus 0 1 Intellectual developmental disorder, X-linked 103 0 1 5 2006-02-21 Q96M96 FGD4_HUMAN FGD4 FYVE, RhoGEF and PH domain-containing protein 4 766 86.6 12 Cytoplasm; Cell projection 0 1 Charcot-Marie-Tooth disease, demyelinating, type 4H 0 1 5 2005-03-15 Q96MG2 JSPR1_HUMAN JSRP1 Junctional sarcoplasmic reticulum protein 1 331 36.3 19 Sarcoplasmic reticulum membrane; Endoplasmic reticulum membrane 0 0 0 1 5 2008-01-15 Q96MM7 H6ST2_HUMAN HS6ST2 Heparan-sulfate 6-O-sulfotransferase 2 605 69.1 X 2.8.2.- Membrane 1 1 Paganini-Miozzo syndrome 0 1 5 2005-10-11 Q96MN9 ZN488_HUMAN ZNF488 Zinc finger protein 488 340 37 10 Nucleus 0 0 0 1 5 2005-07-05 Q96MV1 TLCD4_HUMAN TLCD4 TLC domain-containing protein 4 263 30 1 Membrane 6 0 0 1 5 2007-05-15 Q96N95 ZN396_HUMAN ZNF396 Zinc finger protein 396 335 38.6 18 Nucleus 0 0 0 1 5 2002-09-19 Q96NL8 CF418_HUMAN CFAP418 Cilia- and flagella-associated protein 418 207 23.4 8 Cytoplasm; Photoreceptor inner segment 0 3 Cone-rod dystrophy 16; Retinitis pigmentosa 64; Bardet-Biedl syndrome 21 0 1 5 2007-01-09 Q96P15 SPB11_HUMAN SERPINB11 Serpin B11 392 44.1 18 Cytoplasm 0 0 0 1 5 2002-01-23 Q96P71 NECA3_HUMAN NECAB3 N-terminal EF-hand calcium-binding protein 3 396 44.4 20 Golgi apparatus 0 0 0 1 5 2003-02-28 Q96PE2 ARHGH_HUMAN ARHGEF17 Rho guanine nucleotide exchange factor 17 2063 221.7 11 0 0 0 1 5 2007-05-15 Q96PJ5 FCRL4_HUMAN FCRL4 Fc receptor-like protein 4 515 57.2 1 Cell membrane 1 0 0 1 5 2008-04-29 Q96PM9 Z385A_HUMAN ZNF385A Zinc finger protein 385A 386 40.5 12 Cytoplasm; Nucleus; Cell projection 0 0 0 1 5 2004-03-15 Q96PN8 TSSK3_HUMAN TSSK3 Testis-specific serine/threonine-protein kinase 3 268 30.1 1 2.7.11.1 Cell projection 0 0 0 1 5 2003-04-30 Q96PV7 F193B_HUMAN FAM193B Protein FAM193B 902 96.5 5 Cytoplasm; Nucleus 0 0 0 1 5 2008-07-22 Q96PX1 RN157_HUMAN RNF157 E3 ubiquitin ligase RNF157 679 73.6 17 2.3.2.27 Cytoplasm 0 0 0 1 5 2006-11-28 Q96Q05 TPPC9_HUMAN TRAPPC9 Trafficking protein particle complex subunit 9 1148 128.5 8 Golgi apparatus; Endoplasmic reticulum; Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 13 0 1 5 2008-06-10 Q96Q91 B3A4_HUMAN SLC4A9 Anion exchange protein 4 983 108.2 5 Basolateral cell membrane 11 0 0 2 5 2003-03-28 Q96QH2 PRAM_HUMAN PRAM1 PML-RARA-regulated adapter molecule 1 670 74 19 0 0 0 1 5 2007-01-09 Q96QR8 PURB_HUMAN PURB Transcriptional regulator protein Pur-beta 312 33.2 7 Nucleus 0 0 0 1 5 2006-03-07 Q96QT4 TRPM7_HUMAN TRPM7 Transient receptor potential cation channel subfamily M member 7 1865 212.7 15 2.7.11.1 Cell membrane; Cytoplasmic vesicle membrane 6 1 Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 0 1 5 2004-12-07 Q96RJ6 FER3L_HUMAN FERD3L Fer3-like protein 166 19 7 Nucleus 0 0 0 1 5 2008-04-08 Q96RY5 CRML_HUMAN CRAMP1 Protein cramped-like 1269 134.7 16 Nucleus; Chromosome 0 0 0 1 5 2006-12-12 Q96S53 TESK2_HUMAN TESK2 Dual specificity testis-specific protein kinase 2 571 63.6 1 2.7.12.1 Nucleus 0 0 0 1 5 2002-11-08 Q96S96 PEBP4_HUMAN PEBP4 Phosphatidylethanolamine-binding protein 4 227 25.7 8 Secreted 0 0 0 1 5 2004-04-26 Q96S99 PKHF1_HUMAN PLEKHF1 Pleckstrin homology domain-containing family F member 1 279 31.2 19 0 0 0 1 5 2006-10-03 Q96SF7 TBX15_HUMAN TBX15 T-box transcription factor TBX15 602 65.8 1 Nucleus 0 1 Cousin syndrome 0 1 5 2003-05-16 Q96SJ8 TSN18_HUMAN TSPAN18 Tetraspanin-18 248 27.7 11 Membrane 4 0 0 1 5 2005-06-21 Q96SU4 OSBL9_HUMAN OSBPL9 Oxysterol-binding protein-related protein 9 736 83.2 1 Late endosome membrane; Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane 0 0 0 1 5 2002-02-11 Q96T52 IMP2L_HUMAN IMMP2L Mitochondrial inner membrane protease subunit 2 175 19.7 7 3.4.21.- Mitochondrion inner membrane 1 1 Gilles de la Tourette syndrome 0 1 5 2006-10-31 Q96T76 MMS19_HUMAN MMS19 MMS19 nucleotide excision repair protein homolog 1030 113.3 10 Nucleus; Cytoplasm 0 0 0 1 5 2005-09-13 Q99217 AMELX_HUMAN AMELX Amelogenin, X isoform 191 21.6 X Secreted 0 1 Amelogenesis imperfecta 1E 0 1 5 1995-11-01 Q99487 PAFA2_HUMAN PAFAH2 Platelet-activating factor acetylhydrolase 2, cytoplasmic 392 44 1 3.1.1.47 Cytoplasm; Membrane; Endoplasmic reticulum membrane 0 0 0 1 5 2000-05-30 Q99569 PKP4_HUMAN PKP4 Plakophilin-4 1192 131.9 2 Cell junction; Cytoplasm; Midbody; Cell membrane 0 0 0 1 5 2002-01-23 Q99608 NECD_HUMAN NDN Necdin 321 36.1 15 Perikaryon; Nucleus 0 0 0 1 5 2001-10-18 Q99614 TTC1_HUMAN TTC1 Tetratricopeptide repeat protein 1 292 33.5 5 0 0 0 1 5 2001-01-24 Q99698 LYST_HUMAN LYST Lysosomal-trafficking regulator 3801 429.1 1 Cytoplasm 0 1 Chediak-Higashi syndrome 0 1 5 2000-05-30 Q99712 KCJ15_HUMAN KCNJ15 ATP-sensitive inward rectifier potassium channel 15 375 42.6 21 Membrane; Cell membrane 2 0 0 1 5 1997-11-01 Q99732 LITAF_HUMAN LITAF Lipopolysaccharide-induced tumor necrosis factor-alpha factor 161 17.1 16 Cytoplasm; Nucleus; Lysosome membrane; Early endosome membrane; Late endosome membrane; Endosome membrane; Cell membrane; Golgi apparatus membrane 0 1 Charcot-Marie-Tooth disease, demyelinating, type 1C 0 1 5 2000-05-30 Q99747 SNAG_HUMAN NAPG Gamma-soluble NSF attachment protein 312 34.7 18 Membrane; Golgi apparatus 0 0 0 1 5 1998-07-15 Q99829 CPNE1_HUMAN CPNE1 Copine-1 537 59.1 20 Nucleus; Cytoplasm; Cell membrane 0 0 0 1 5 2000-12-01 Q99946 PRRT1_HUMAN PRRT1 Proline-rich transmembrane protein 1 306 31.4 6 Cell membrane; Synapse 1 0 0 1 5 2002-10-10 Q99961 SH3G1_HUMAN SH3GL1 Endophilin-A2 368 41.5 19 Cytoplasm; Early endosome membrane; Cell projection 0 0 0 1 5 2000-12-01 Q99990 VGLL1_HUMAN VGLL1 Transcription cofactor vestigial-like protein 1 258 28.7 X Nucleus 0 0 0 1 5 2004-07-19 Q9BQ16 TICN3_HUMAN SPOCK3 Testican-3 436 49.4 4 Secreted 0 0 0 1 5 2002-10-19 Q9BQ67 GRWD1_HUMAN GRWD1 Glutamate-rich WD repeat-containing protein 1 446 49.4 19 Nucleus; Chromosome 0 1 Diarrhea 14, congenital 0 1 5 2001-09-26 Q9BQA5 HINFP_HUMAN HINFP Histone H4 transcription factor 517 59.7 11 Nucleus 0 0 0 1 5 2004-07-19 Q9BQI3 E2AK1_HUMAN EIF2AK1 Eukaryotic translation initiation factor 2-alpha kinase 1 630 71.1 7 2.7.11.1 0 1 Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 0 1 5 2001-07-11 Q9BQT8 ODC_HUMAN SLC25A21 Mitochondrial 2-oxodicarboxylate carrier 299 33.3 14 Mitochondrion inner membrane 6 1 Mitochondrial DNA depletion syndrome 18 0 1 5 2002-02-11 Q9BRF8 CPPED_HUMAN CPPED1 Serine/threonine-protein phosphatase CPPED1 314 35.5 16 3.1.3.16 Cytoplasm 0 0 0 1 5 2008-02-26 Q9BRI3 ZNT2_HUMAN SLC30A2 Proton-coupled zinc antiporter SLC30A2 372 40.6 1 Cytoplasmic vesicle; Zymogen granule membrane; Endosome membrane; Lysosome membrane; Mitochondrion inner membrane 5 1 Zinc deficiency, transient neonatal 0 1 5 2005-03-01 Q9BRQ6 MIC25_HUMAN CHCHD6 MICOS complex subunit MIC25 235 26.5 3 Mitochondrion inner membrane; Mitochondrion 0 0 0 1 5 2005-04-12 Q9BSY9 DESI2_HUMAN DESI2 Deubiquitinase DESI2 194 21.4 1 3.4.19.12 Cytoplasm 0 0 0 1 5 2004-08-31 Q9BT09 CNPY3_HUMAN CNPY3 Protein canopy homolog 3 278 30.7 6 Endoplasmic reticulum 0 1 Developmental and epileptic encephalopathy 60 0 1 5 2008-01-15 Q9BT49 THAP7_HUMAN THAP7 THAP domain-containing protein 7 309 34.4 22 Nucleus; Chromosome 0 0 0 1 5 2003-04-11 Q9BT81 SOX7_HUMAN SOX7 Transcription factor SOX-7 388 42.2 8 Nucleus; Cytoplasm 0 0 0 1 5 2002-05-10 Q9BTF0 THUM2_HUMAN THUMPD2 U6 snRNA (guanine-N(2))-methyltransferase THUMPD2 503 56.4 2 2.1.1.- Nucleus 0 0 0 1 5 2004-07-05 Q9BTM9 URM1_HUMAN URM1 Ubiquitin-related modifier 1 101 11.4 9 Cytoplasm; Nucleus 0 0 0 1 5 2005-07-05 Q9BTN0 LRFN3_HUMAN LRFN3 Leucine-rich repeat and fibronectin type-III domain-containing protein 3 628 66.3 19 Cell membrane; Cell projection; Synapse; Presynaptic cell membrane; Postsynaptic cell membrane 1 0 0 1 5 2005-03-29 Q9BTX3 TM208_HUMAN TMEM208 Transmembrane protein 208 173 19.6 16 Endoplasmic reticulum membrane 3 0 0 1 5 2008-03-18 Q9BTY2 FUCO2_HUMAN FUCA2 Plasma alpha-L-fucosidase 467 54.1 6 3.2.1.51 Secreted 0 0 0 1 5 2005-05-10 Q9BUK6 MSTO1_HUMAN MSTO1 Protein misato homolog 1 570 61.8 1 Mitochondrion outer membrane; Cytoplasm 0 1 Myopathy, mitochondrial, and ataxia 0 1 5 2007-09-11 Q9BUU2 MET22_HUMAN METTL22 Methyltransferase-like protein 22 404 44.5 16 2.1.1.- Nucleus 0 0 0 1 5 2007-05-15 Q9BV29 CCD32_HUMAN CCDC32 Coiled-coil domain-containing protein 32 185 20.7 15 Membrane 0 1 Cardiofacioneurodevelopmental syndrome 0 1 5 2007-09-11 Q9BVC3 DCC1_HUMAN DSCC1 Sister chromatid cohesion protein DCC1 393 44.8 8 Nucleus 0 0 0 1 5 2008-02-05 Q9BVK2 ALG8_HUMAN ALG8 Dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase 526 60.1 11 2.4.1.265 Endoplasmic reticulum membrane 11 2 Congenital disorder of glycosylation 1H; Polycystic liver disease 3 with or without kidney cysts 0 1 5 2002-05-27 Q9BVL4 SELO_HUMAN SELENOO Protein adenylyltransferase SelO, mitochondrial 669 73.5 22 2.7.7.-, 2.7.7.108 Mitochondrion 0 0 0 1 5 2003-08-04 Q9BVT8 TMUB1_HUMAN TMUB1 Transmembrane and ubiquitin-like domain-containing protein 1 246 26.3 7 Membrane; Postsynaptic cell membrane; Recycling endosome; Cytoplasm; Nucleus 3 0 0 1 5 2003-09-19 Q9BVV7 TIM21_HUMAN TIMM21 Mitochondrial import inner membrane translocase subunit Tim21 248 28.2 18 Mitochondrion membrane 1 0 0 1 5 2005-08-30 Q9BW11 MAD3_HUMAN MXD3 Max dimerization protein 3 206 23.5 5 Nucleus 0 0 0 1 5 2006-10-17 Q9BWC9 CC106_HUMAN CCDC106 Coiled-coil domain-containing protein 106 280 32 19 Nucleus 0 0 0 1 5 2007-02-06 Q9BWL3 LTAP1_HUMAN LTAP1 Lipid transport auxiliary protein 1 253 28.8 1 Cell membrane; Golgi apparatus; Mitochondrion; Endoplasmic reticulum membrane 1 0 0 1 5 2005-07-05 Q9BWQ8 LFG2_HUMAN FAIM2 Protein lifeguard 2 316 35.1 12 Cell membrane; Membrane raft; Postsynaptic cell membrane 7 0 0 1 5 2003-11-21 Q9BX97 PLVAP_HUMAN PLVAP Plasmalemma vesicle-associated protein 442 50.6 19 Cell membrane; Membrane; Cytoplasm 1 1 Diarrhea 10, protein-losing enteropathy type 0 1 5 2005-08-30 Q9BXS4 TMM59_HUMAN TMEM59 Transmembrane protein 59 323 36.2 1 Late endosome membrane; Lysosome membrane; Cell membrane; Golgi apparatus membrane 1 0 0 1 5 2001-09-26 Q9BXS5 AP1M1_HUMAN AP1M1 AP-1 complex subunit mu-1 423 48.6 19 Golgi apparatus; Cytoplasmic vesicle 0 0 0 1 5 2001-09-26 Q9BXT6 M10L1_HUMAN MOV10L1 RNA helicase Mov10l1 1211 135.3 22 5.6.2.5 Cytoplasm 0 1 Spermatogenic failure 73 0 1 5 2002-08-02 Q9BY27 DGC6L_HUMAN DGCR6L Protein DGCR6L 220 24.9 22 Nucleus 0 0 0 1 5 2002-07-26 Q9BY79 MFRP_HUMAN MFRP Membrane frizzled-related protein 579 62.2 11 Apical cell membrane 1 2 Nanophthalmos 2; Microphthalmia, isolated, 5 0 1 5 2006-03-21 Q9BYE3 LCE3D_HUMAN LCE3D Late cornified envelope protein 3D 92 9.4 1 0 0 0 1 5 2006-05-16 Q9BYQ3 KRA93_HUMAN KRTAP9-3 Keratin-associated protein 9-3 159 16.9 17 0 0 0 1 5 2003-11-14 Q9BYQ4 KRA92_HUMAN KRTAP9-2 Keratin-associated protein 9-2 174 18.3 17 0 0 0 1 5 2003-11-14 Q9BYR2 KRA45_HUMAN KRTAP4-5 Keratin-associated protein 4-5 181 19.4 17 0 0 0 1 5 2003-10-24 Q9BYV6 TRI55_HUMAN TRIM55 Tripartite motif-containing protein 55 548 60.5 8 2.3.2.27 Nucleus; Cytoplasm 0 0 0 1 5 2002-06-06 Q9BYW3 DB126_HUMAN DEFB126 Beta-defensin 126 111 12.2 20 Secreted 0 0 0 1 5 2002-10-10 Q9BZD6 TMG4_HUMAN PRRG4 Transmembrane gamma-carboxyglutamic acid protein 4 226 25.4 11 Endoplasmic reticulum-Golgi intermediate compartment membrane; Cell membrane 1 0 0 1 5 2002-01-31 Q9BZF3 OSBL6_HUMAN OSBPL6 Oxysterol-binding protein-related protein 6 934 106.3 2 Cytoplasm; Endoplasmic reticulum membrane; Nucleus envelope; Cell membrane; Endosome membrane 0 0 0 1 5 2002-02-11 Q9BZG1 RAB34_HUMAN RAB34 Ras-related protein Rab-34 259 29 17 3.6.5.2 Cytoplasm; Golgi apparatus; Cytoplasmic vesicle; Cell projection 0 1 Orofaciodigital syndrome 20 0 1 5 2002-01-31 Q9BZQ4 NMNA2_HUMAN NMNAT2 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 307 34.4 1 2.7.7.1, 2.7.7.18 Golgi apparatus membrane; Cytoplasmic vesicle membrane; Cytoplasm; Cell projection 0 0 0 1 5 2003-05-09 Q9BZQ8 NIBA1_HUMAN NIBAN1 Protein Niban 1 928 103.1 1 Cytoplasm; Membrane 0 0 0 1 5 2002-08-13 Q9BZR9 TRIM8_HUMAN TRIM8 E3 ubiquitin-protein ligase TRIM8 551 61.5 10 2.3.2.27 Cytoplasm; Nucleus 0 1 Focal segmental glomerulosclerosis and neurodevelopmental syndrome 0 1 5 2001-09-26 Q9BZW7 TSG10_HUMAN TSGA10 Testis-specific gene 10 protein 698 81.4 2 Cytoplasm 0 1 Spermatogenic failure 26 0 1 5 2007-10-02 Q9C098 DCLK3_HUMAN DCLK3 Serine/threonine-protein kinase DCLK3 648 73.8 3 2.7.11.1 Cytoplasm; Nucleus 0 0 0 1 5 2006-10-03 Q9C0B2 CFA74_HUMAN CFAP74 Cilia- and flagella-associated protein 74 1584 178.6 1 Cytoplasm 0 1 Ciliary dyskinesia, primary, 49, without situs inversus 0 1 5 2008-03-18 Q9C0B5 ZDHC5_HUMAN ZDHHC5 Palmitoyltransferase ZDHHC5 715 77.5 11 2.3.1.225 Cell membrane; Synapse; Golgi apparatus 4 0 0 1 5 2003-02-01 Q9C0E8 LNP_HUMAN LNPK Endoplasmic reticulum junction formation protein lunapark 428 47.7 2 Endoplasmic reticulum membrane 2 1 Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 1 5 2006-09-05 Q9C0F0 ASXL3_HUMAN ASXL3 Putative Polycomb group protein ASXL3 2248 241.9 18 Nucleus 0 1 Bainbridge-Ropers syndrome 0 1 5 2008-02-26 Q9C0K1 S39A8_HUMAN SLC39A8 Metal cation symporter ZIP8 460 49.6 4 Cell membrane; Lysosome membrane; Apical cell membrane; Basolateral cell membrane 6 1 Congenital disorder of glycosylation 2N 0 1 5 2007-12-04 Q9GZR1 SENP6_HUMAN SENP6 Sentrin-specific protease 6 1112 126.1 6 3.4.22.- Nucleus 0 0 0 1 5 2001-10-18 Q9GZU5 NYX_HUMAN NYX Nyctalopin 476 51.5 X Secreted; Cell projection; Postsynapse 0 1 Night blindness, congenital stationary, 1A 0 1 5 2002-09-19 Q9GZV1 ANKR2_HUMAN ANKRD2 Ankyrin repeat domain-containing protein 2 360 39.9 10 Cytoplasm; Nucleus 0 0 0 1 5 2002-07-11 Q9GZV7 HPLN2_HUMAN HAPLN2 Hyaluronan and proteoglycan link protein 2 340 37.8 1 Secreted 0 0 0 1 5 2002-04-16 Q9H000 MKRN2_HUMAN MKRN2 E3 ubiquitin-protein ligase makorin-2 416 46.9 3 2.3.2.27 Cytoplasm; Nucleus 0 0 0 1 5 2001-11-16 Q9H061 T126A_HUMAN TMEM126A Transmembrane protein 126A 195 21.5 11 Mitochondrion inner membrane 4 1 Optic atrophy 7 with or without auditory neuropathy 0 1 5 2007-01-09 Q9H0A6 RNF32_HUMAN RNF32 RING finger protein 32 362 41.5 7 Cytoplasm 0 0 0 1 5 2006-07-11 Q9H0A9 SPC1L_HUMAN SPATC1L Speriolin-like protein 340 37.6 21 Cytoplasm 0 0 0 1 5 2001-09-26 Q9H0C5 BTBD1_HUMAN BTBD1 BTB/POZ domain-containing protein 1 482 52.8 15 Cytoplasm 0 0 0 1 5 2002-01-23 Q9H0R1 AP5M1_HUMAN AP5M1 AP-5 complex subunit mu-1 490 54.8 14 Cytoplasm; Late endosome membrane; Lysosome membrane 0 0 0 1 5 2003-10-03 Q9H0V9 LMA2L_HUMAN LMAN2L VIP36-like protein 348 39.7 2 Endoplasmic reticulum membrane; Golgi apparatus membrane 1 2 Intellectual developmental disorder, autosomal recessive 52; Intellectual developmental disorder, autosomal dominant 69 0 1 5 2003-04-04 Q9H112 CST11_HUMAN CST11 Cystatin-11 138 16.5 20 Secreted 0 0 0 1 5 2002-01-23 Q9H115 SNAB_HUMAN NAPB Beta-soluble NSF attachment protein 298 33.6 20 Membrane 0 1 Developmental and epileptic encephalopathy 107 0 1 5 2001-08-29 Q9H160 ING2_HUMAN ING2 Inhibitor of growth protein 2 280 32.8 4 Nucleus 0 0 0 1 5 2005-02-15 Q9H1N7 S35B3_HUMAN SLC35B3 Adenosine 3'-phospho 5'-phosphosulfate transporter 2 401 44.6 6 Golgi apparatus membrane 10 0 0 1 5 2005-11-22 Q9H1U9 S2551_HUMAN SLC25A51 Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A51 297 33.7 9 Mitochondrion inner membrane 6 0 0 1 5 2003-11-28 Q9H223 EHD4_HUMAN EHD4 EH domain-containing protein 4 541 61.2 15 Early endosome membrane; Recycling endosome membrane; Cell membrane; Cell junction 0 0 0 1 5 2001-09-26 Q9H2C2 ARV1_HUMAN ARV1 Protein ARV1 271 31.1 1 Endoplasmic reticulum membrane 3 1 Developmental and epileptic encephalopathy 38 0 1 5 2006-03-21 Q9H2F3 3BHS7_HUMAN HSD3B7 3 beta-hydroxysteroid dehydrogenase type 7 369 41 16 Endoplasmic reticulum membrane 2 1 Congenital bile acid synthesis defect 1 0 1 5 2004-05-24 Q9H2G4 TSYL2_HUMAN TSPYL2 Testis-specific Y-encoded-like protein 2 693 79.4 X Nucleus; Cytoplasm 0 0 0 1 5 2007-05-29 Q9H2G9 GO45_HUMAN BLZF1 Golgin-45 400 44.9 1 Golgi apparatus membrane 0 0 0 1 5 2004-08-16 Q9H2M3 BHMT2_HUMAN BHMT2 S-methylmethionine--homocysteine S-methyltransferase BHMT2 363 40.4 5 2.1.1.10 0 0 0 1 5 2007-01-23 Q9H2S5 RNF39_HUMAN RNF39 RING finger protein 39 420 45.5 6 2.3.2.27 Cytoplasm 0 0 0 1 5 2005-06-21 Q9H2W1 M4A6A_HUMAN MS4A6A Membrane-spanning 4-domains subfamily A member 6A 248 26.9 11 Membrane 4 0 0 1 5 2003-05-09 Q9H329 E41LB_HUMAN EPB41L4B Band 4.1-like protein 4B 900 99.7 9 Cytoplasm; Cell junction 0 0 0 1 5 2003-04-23 Q9H3H1 MOD5_HUMAN TRIT1 tRNA dimethylallyltransferase 467 52.7 1 2.5.1.75 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 35 0 1 5 2004-07-05 Q9H3Q3 G3ST2_HUMAN GAL3ST2 Galactose-3-O-sulfotransferase 2 398 46.1 2 2.8.2.- Golgi apparatus 1 0 0 1 5 2004-05-10 Q9H3S3 TMPS5_HUMAN TMPRSS5 Transmembrane protease serine 5 457 49.6 11 3.4.21.- Cell membrane 1 0 0 1 5 2001-04-27 Q9H3T3 SEM6B_HUMAN SEMA6B Semaphorin-6B 888 95.3 19 Cell membrane 1 1 Epilepsy, progressive myoclonic 11 0 1 5 2001-04-27 Q9H469 FXL15_HUMAN FBXL15 F-box/LRR-repeat protein 15 300 33 10 Cytoplasm 0 0 0 1 5 2004-08-31 Q9H4D0 CSTN2_HUMAN CLSTN2 Calsyntenin-2 955 107 3 Postsynaptic cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell projection 1 0 0 1 5 2002-09-19 Q9H4G0 E41L1_HUMAN EPB41L1 Band 4.1-like protein 1 881 98.5 20 Cytoplasm 0 1 Intellectual developmental disorder, autosomal dominant 11 0 1 5 2001-07-11 Q9H553 ALG2_HUMAN ALG2 Alpha-1,3/1,6-mannosyltransferase ALG2 416 47.1 9 2.4.1.132, 2.4.1.257 Endoplasmic reticulum membrane 0 2 Congenital disorder of glycosylation 1I; Myasthenic syndrome, congenital, 14 0 1 5 2004-04-13 Q9H6J7 CSTP1_HUMAN CSTPP1 Centriolar satellite-associated tubulin polyglutamylase complex regulator 1 331 37.4 11 Cytoplasm 0 0 0 1 5 2007-03-20 Q9H6L2 TM231_HUMAN TMEM231 Transmembrane protein 231 316 36.1 16 Cell projection 2 2 Joubert syndrome 20; Meckel syndrome 11 0 1 5 2008-02-05 Q9H6R0 DHX33_HUMAN DHX33 ATP-dependent RNA helicase DHX33 707 78.9 17 3.6.4.13 Nucleus; Cytoplasm; Inflammasome 0 0 0 1 5 2005-11-22 Q9H6T0 ESRP2_HUMAN ESRP2 Epithelial splicing regulatory protein 2 727 78.4 16 Nucleus 0 0 0 1 5 2007-01-23 Q9H6U8 ALG9_HUMAN ALG9 Alpha-1,2-mannosyltransferase ALG9 611 69.9 11 2.4.1.259, 2.4.1.261 Endoplasmic reticulum membrane 8 2 Congenital disorder of glycosylation 1L; Gillessen-Kaesbach-Nishimura syndrome 0 1 5 2005-08-30 Q9H6Y7 RN167_HUMAN RNF167 E3 ubiquitin-protein ligase RNF167 350 38.3 17 2.3.2.27 Lysosome membrane; Endosome membrane; Endomembrane system; Cell membrane 1 0 0 1 5 2006-07-11 Q9H707 ZN552_HUMAN ZNF552 Zinc finger protein 552 407 46.2 19 Nucleus 0 0 0 1 5 2007-05-15 Q9H772 GREM2_HUMAN GREM2 Gremlin-2 168 19.3 1 Secreted 0 1 Tooth agenesis, selective, 9 0 1 5 2005-04-12 Q9H7E9 CH033_HUMAN C8orf33 UPF0488 protein C8orf33 229 25 8 0 0 0 1 5 2007-10-02 Q9H7T9 AUNIP_HUMAN AUNIP Aurora kinase A- and ninein-interacting protein 357 40.3 1 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 2007-04-17 Q9H8H2 DDX31_HUMAN DDX31 ATP-dependent DNA helicase DDX31 851 94.1 9 5.6.2.- Nucleus 0 0 0 1 5 2005-07-19 Q9H8P0 SR5A3_HUMAN SRD5A3 Polyprenal reductase 318 36.5 4 1.3.1.94 Endoplasmic reticulum membrane 6 2 Congenital disorder of glycosylation 1Q; Kahrizi syndrome 0 1 5 2008-02-05 Q9H8Y5 ANKZ1_HUMAN ANKZF1 tRNA endonuclease ANKZF1 726 80.9 2 3.1.-.- Cytoplasm 0 0 0 1 5 2006-07-25 Q9H9C1 SPE39_HUMAN VIPAS39 Spermatogenesis-defective protein 39 homolog 493 57 14 Cytoplasm; Cytoplasmic vesicle; Early endosome; Recycling endosome; Late endosome 0 1 Arthrogryposis, renal dysfunction and cholestasis syndrome 2 0 1 5 2004-01-16 Q9H9K5 MER34_HUMAN ERVMER34-1 Endogenous retroviral envelope protein HEMO 563 63.5 4 Cell membrane 1 0 0 1 5 2008-06-10 Q9H9P8 L2HDH_HUMAN L2HGDH L-2-hydroxyglutarate dehydrogenase, mitochondrial 463 50.3 14 1.1.99.2 Mitochondrion 0 1 L-2-hydroxyglutaric aciduria 0 1 5 2006-03-21 Q9HAV5 TNR27_HUMAN EDA2R Tumor necrosis factor receptor superfamily member 27 297 32.8 X Membrane 1 0 0 1 5 2002-05-27 Q9HAW7 UD17_HUMAN UGT1A7 UDP-glucuronosyltransferase 1A7 530 59.8 2 2.4.1.17 Endoplasmic reticulum membrane 1 0 0 1 5 2003-04-11 Q9HBX8 LGR6_HUMAN LGR6 Leucine-rich repeat-containing G protein-coupled receptor 6 967 104.3 1 Cell membrane 7 0 0 1 5 2002-06-06 Q9HC10 OTOF_HUMAN OTOF Otoferlin 1997 226.8 2 Cytoplasmic vesicle; Basolateral cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Presynaptic cell membrane; Cell membrane; Golgi apparatus 1 2 Deafness, autosomal recessive, 9; Auditory neuropathy, autosomal recessive, 1 0 1 5 2002-01-23 Q9HC21 TPC_HUMAN SLC25A19 Mitochondrial thiamine pyrophosphate carrier 320 35.5 17 Mitochondrion membrane 6 2 Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type 0 1 5 2002-02-11 Q9HC23 PROK2_HUMAN PROK2 Prokineticin-2 129 14.3 3 Secreted 0 1 Hypogonadotropic hypogonadism 4 with or without anosmia 0 1 5 2001-09-26 Q9HCE1 MOV10_HUMAN MOV10 RNA helicase MOV-10 1003 113.7 1 5.6.2.5 Cytoplasm; Nucleus 0 0 0 1 5 2002-11-01 Q9HCE6 ARGAL_HUMAN ARHGEF10L Rho guanine nucleotide exchange factor 10-like protein 1279 140.4 1 Cytoplasm 0 0 0 1 5 2008-07-01 Q9HCE9 ANO8_HUMAN ANO8 Anoctamin-8 1232 136 19 Cell membrane 8 0 0 1 5 2006-09-05 Q9HCG7 GBA2_HUMAN GBA2 Non-lysosomal glucosylceramidase 927 104.6 9 3.2.1.45 Endoplasmic reticulum membrane; Golgi apparatus membrane 0 1 Spastic paraplegia 46, autosomal recessive 0 1 5 2007-04-03 Q9HCH0 NCK5L_HUMAN NCKAP5L Nck-associated protein 5-like 1334 139.5 12 Cytoplasm 0 0 0 1 5 2007-05-29 Q9HCM1 RESF1_HUMAN RESF1 Retroelement silencing factor 1 1747 194.9 12 Nucleus 0 0 0 1 5 2007-07-24 Q9HCM3 K1549_HUMAN KIAA1549 UPF0606 protein KIAA1549 1950 210.8 7 Membrane; Cell projection 2 1 Retinitis pigmentosa 86 0 1 5 2008-07-01 Q9HCM4 E41L5_HUMAN EPB41L5 Band 4.1-like protein 5 733 81.9 2 Cytoplasm; Cell junction; Cell membrane; Photoreceptor inner segment 0 0 0 1 5 2001-07-11 Q9HCS2 CP4FC_HUMAN CYP4F12 Cytochrome P450 4F12 524 60.3 19 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 2 0 0 1 5 2002-05-10 Q9HCS4 TF7L1_HUMAN TCF7L1 Transcription factor 7-like 1 588 62.6 2 Nucleus 0 0 0 1 5 2003-03-25 Q9HCU0 CD248_HUMAN CD248 Endosialin 757 80.9 11 Membrane 1 0 0 1 5 2006-01-24 Q9HCX3 ZN304_HUMAN ZNF304 Zinc finger protein 304 659 75 19 Nucleus 0 0 0 1 5 2002-09-19 Q9HD90 NDF4_HUMAN NEUROD4 Neurogenic differentiation factor 4 331 37 12 Nucleus 0 0 0 1 5 2002-03-27 Q9HDC9 APMAP_HUMAN APMAP Adipocyte plasma membrane-associated protein 416 46.5 20 Membrane 1 0 0 1 5 2002-10-19 Q9NP62 GCM1_HUMAN GCM1 Chorion-specific transcription factor GCMa 436 49.3 6 Nucleus 0 0 0 1 5 2003-07-25 Q9NPI5 NRK2_HUMAN NMRK2 Nicotinamide riboside kinase 2 230 26 19 2.7.1.22 0 0 0 1 5 2004-07-19 Q9NQ29 LUC7L_HUMAN LUC7L Putative RNA-binding protein Luc7-like 1 371 43.7 16 0 0 0 1 5 2004-05-10 Q9NQ31 AKIP1_HUMAN AKIP1 A-kinase-interacting protein 1 210 23.1 11 Nucleus 0 0 0 1 5 2002-05-02 Q9NQ89 FERY3_HUMAN FERRY3 Ferry endosomal RAB5 effector complex subunit 3 552 63.8 12 Cytoplasm; Early endosome 0 1 Intellectual developmental disorder, autosomal recessive 66 0 1 5 2005-07-19 Q9NQ90 ANO2_HUMAN ANO2 Anoctamin-2 998 113.4 12 Cell membrane 8 0 0 1 5 2004-01-16 Q9NQE9 HINT3_HUMAN HINT3 Adenosine 5'-monophosphoramidase HINT3 182 20.4 6 3.9.1.- Cytoplasm; Nucleus 0 0 0 1 5 2008-03-18 Q9NQZ5 STAR7_HUMAN STARD7 StAR-related lipid transfer protein 7, mitochondrial 370 43.1 2 Mitochondrion outer membrane 1 0 0 1 5 2002-11-15 Q9NQZ7 ENTP7_HUMAN ENTPD7 Ectonucleoside triphosphate diphosphohydrolase 7 604 69 10 3.6.1.15 Cytoplasmic vesicle membrane 2 0 0 1 5 2007-02-06 Q9NQZ8 ZNF71_HUMAN ZNF71 Endothelial zinc finger protein induced by tumor necrosis factor alpha 489 54.5 19 Nucleus 0 0 0 1 5 2002-05-27 Q9NR11 ZN302_HUMAN ZNF302 Zinc finger protein 302 478 54.8 19 Nucleus 0 0 0 1 5 2002-09-19 Q9NR33 DPOE4_HUMAN POLE4 DNA polymerase epsilon subunit 4 117 12.2 2 Nucleus 0 0 0 1 5 2002-08-30 Q9NR46 SHLB2_HUMAN SH3GLB2 Endophilin-B2 395 44 9 Cytoplasm 0 0 0 1 5 2004-01-16 Q9NR81 ARHG3_HUMAN ARHGEF3 Rho guanine nucleotide exchange factor 3 526 59.8 3 Cytoplasm 0 0 0 1 5 2004-09-27 Q9NRB3 CHSTC_HUMAN CHST12 Carbohydrate sulfotransferase 12 414 48.4 7 2.8.2.5 Golgi apparatus membrane 1 0 0 1 5 2005-03-15 Q9NRE2 TSH2_HUMAN TSHZ2 Teashirt homolog 2 1034 115 20 Nucleus 0 0 0 1 5 2002-09-19 Q9NRJ4 TULP4_HUMAN TULP4 Tubby-related protein 4 1543 169 6 Cytoplasm 0 0 0 1 5 2002-01-31 Q9NRL3 STRN4_HUMAN STRN4 Striatin-4 753 80.6 19 Cytoplasm 0 0 0 1 5 2001-11-16 Q9NRR3 C42S2_HUMAN CDC42SE2 CDC42 small effector protein 2 84 9.2 5 Cytoplasm; Cell membrane; Cell projection 0 0 0 1 5 2008-05-20 Q9NRR8 C42S1_HUMAN CDC42SE1 CDC42 small effector protein 1 79 8.9 1 Cytoplasm; Cell membrane 0 0 0 1 5 2008-05-20 Q9NRW7 VPS45_HUMAN VPS45 Vacuolar protein sorting-associated protein 45 570 65.1 1 Golgi apparatus membrane; Endosome membrane 0 1 Neutropenia, severe congenital 5, autosomal recessive 0 1 5 2002-09-19 Q9NRY6 PLS3_HUMAN PLSCR3 Phospholipid scramblase 3 295 31.6 17 Mitochondrion membrane; Mitochondrion inner membrane; Nucleus 1 0 0 1 5 2001-06-20 Q9NRZ5 PLCD_HUMAN AGPAT4 1-acyl-sn-glycerol-3-phosphate acyltransferase delta 378 44 6 2.3.1.51 Endoplasmic reticulum membrane 4 0 0 1 5 2001-01-11 Q9NSC7 SIA7A_HUMAN ST6GALNAC1 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 600 68.6 17 2.4.3.3 Golgi apparatus membrane 1 0 0 1 5 2002-07-11 Q9NSD5 S6A13_HUMAN SLC6A13 Sodium- and chloride-dependent GABA transporter 2 602 68 12 Cell membrane; Basolateral cell membrane 12 0 0 1 5 2001-09-26 Q9NSK0 KLC4_HUMAN KLC4 Kinesin light chain 4 619 68.6 6 Cytoplasm 0 1 Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy 0 1 5 2001-04-27 Q9NSK7 CS012_HUMAN C19orf12 Protein C19orf12 141 15 19 Mitochondrion; Mitochondrion membrane; Endoplasmic reticulum; Cytoplasm; Lipid droplet 1 2 Neurodegeneration with brain iron accumulation 4; Spastic paraplegia 43, autosomal recessive 0 1 5 2007-07-24 Q9NTJ5 SAC1_HUMAN SACM1L Phosphatidylinositol-3-phosphatase SAC1 587 67 3 3.1.3.64 Endoplasmic reticulum membrane; Golgi apparatus membrane 2 0 0 1 5 2008-02-05 Q9NUD5 ZCHC3_HUMAN ZCCHC3 Zinc finger CCHC domain-containing protein 3 403 43.5 20 Cytoplasm 0 0 0 1 5 2002-09-19 Q9NUD9 PIGV_HUMAN PIGV GPI alpha-1,6-mannosyltransferase 2 493 55.7 1 2.4.1.- Endoplasmic reticulum membrane 10 1 Hyperphosphatasia with impaired intellectual development syndrome 1 0 1 5 2006-07-25 Q9NUH8 TM14B_HUMAN TMEM14B Transmembrane protein 14B 114 12.1 6 Membrane 4 0 0 1 5 2003-01-10 Q9NV12 TM140_HUMAN TMEM140 Transmembrane protein 140 185 20.4 7 Membrane 4 0 0 1 5 2007-02-06 Q9NV70 EXOC1_HUMAN EXOC1 Exocyst complex component 1 894 102 4 Midbody; Cytoplasm; Cell membrane 0 0 0 1 5 2002-10-25 Q9NVF7 FBX28_HUMAN FBXO28 F-box only protein 28 368 41.1 1 Chromosome; Nucleus 0 1 Developmental and epileptic encephalopathy 100 0 1 5 2005-02-15 Q9NVL1 F86C1_HUMAN FAM86C1P Putative protein FAM86C1P 165 18.5 11 2.1.1.- 0 0 0 5 5 2007-10-23 Q9NVR5 KTU_HUMAN DNAAF2 Protein kintoun 837 91.1 14 Cytoplasm; Dynein axonemal particle 0 1 Ciliary dyskinesia, primary, 10 0 1 5 2003-09-26 Q9NWB7 IFT57_HUMAN IFT57 Intraflagellar transport protein 57 homolog 429 49.1 3 Cell projection; Cytoplasm 0 1 Orofaciodigital syndrome 18 0 1 5 2008-04-08 Q9NX62 IMPA3_HUMAN BPNT2 Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase 359 38.7 8 3.1.3.7 Golgi apparatus 1 1 Chondrodysplasia with joint dislocations, GPAPP type 0 1 5 2007-05-29 Q9NX94 WBP1L_HUMAN WBP1L WW domain binding protein 1-like 342 37.8 10 Membrane 1 0 0 1 5 2006-06-27 Q9NXB9 ELOV2_HUMAN ELOVL2 Very long chain fatty acid elongase 2 296 34.6 6 2.3.1.199 Endoplasmic reticulum membrane 7 0 0 1 5 2002-01-23 Q9NY15 STAB1_HUMAN STAB1 Stabilin-1 2570 275.5 3 Membrane 1 1 Hyperferritinemia 0 1 5 2004-07-05 Q9NY93 DDX56_HUMAN DDX56 Probable ATP-dependent RNA helicase DDX56 547 61.6 7 3.6.4.13 Nucleus 0 0 0 1 5 2002-01-23 Q9NYA3 GOG6A_HUMAN GOLGA6A Golgin subfamily A member 6A 693 79.9 15 0 0 0 1 5 2003-07-03 Q9NYD6 HXC10_HUMAN HOXC10 Homeobox protein Hox-C10 342 38.1 12 Nucleus 0 0 0 1 5 2001-02-21 Q9NYR8 RDH8_HUMAN RDH8 Retinol dehydrogenase 8 311 33.8 19 1.1.1.300 Membrane 3 1 Stargardt disease 5 0 1 5 2007-10-02 Q9NYW8 RBAK_HUMAN RBAK RB-associated KRAB zinc finger protein 714 83 7 Nucleus 0 0 0 1 5 2008-02-05 Q9NYZ1 TV23B_HUMAN TVP23B Golgi apparatus membrane protein TVP23 homolog B 205 23.6 17 Membrane 4 0 0 1 5 2003-10-31 Q9NZB8 MOCS1_HUMAN MOCS1 Molybdenum cofactor biosynthesis protein 1 636 70.1 6 Mitochondrion matrix 0 1 Molybdenum cofactor deficiency, type A 0 1 5 2003-05-09 Q9NZC3 GDE1_HUMAN GDE1 Glycerophosphodiester phosphodiesterase 1 331 37.7 16 Cell membrane; Cytoplasmic vesicle membrane 2 0 0 1 5 2006-10-03 Q9NZC4 EHF_HUMAN EHF ETS homologous factor 300 34.9 11 Nucleus 0 0 0 1 5 2006-10-31 Q9NZD8 SPG21_HUMAN SPG21 Maspardin 308 35 15 Cytoplasm; Membrane; Endosome membrane; Golgi apparatus 0 1 Spastic paraplegia 21, autosomal recessive 0 1 5 2006-03-21 Q9NZH7 IL36B_HUMAN IL36B Interleukin-36 beta 164 18.5 2 Cytoplasm; Secreted 0 0 0 1 5 2002-11-08 Q9NZN3 EHD3_HUMAN EHD3 EH domain-containing protein 3 535 60.9 2 Recycling endosome membrane; Cell membrane; Cell projection 0 0 0 1 5 2001-09-26 Q9NZQ8 TRPM5_HUMAN TRPM5 Transient receptor potential cation channel subfamily M member 5 1165 131.5 11 Cell membrane 6 0 0 1 5 2008-04-08 Q9NZW4 DSPP_HUMAN DSPP Dentin sialophosphoprotein 1301 131.2 4 Secreted 0 4 Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1; Dentinogenesis imperfecta, Shields type 2; Dentinogenesis imperfecta, Shields type 3; Dentin dysplasia 2 0 1 5 2001-12-13 Q9P0P0 RN181_HUMAN RNF181 E3 ubiquitin-protein ligase RNF181 153 17.9 2 2.3.2.27 0 0 0 1 5 2007-07-10 Q9P0W2 HM20B_HUMAN HMG20B SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related 317 35.8 19 Nucleus; Chromosome 0 0 0 1 5 2005-01-04 Q9P0W8 SPAT7_HUMAN SPATA7 Spermatogenesis-associated protein 7 599 67.7 14 Cytoplasm; Cell projection 0 2 Leber congenital amaurosis 3; Retinitis pigmentosa 94, variable age at onset, autosomal recessive 0 1 5 2003-09-26 Q9P206 NHSL3_HUMAN NHSL3 NHS-like protein 3 1035 107.1 1 0 0 0 1 5 2007-11-13 Q9P219 DAPLE_HUMAN CCDC88C Protein Daple 2028 228.2 14 Cytoplasm; Cell junction 0 2 Hydrocephalus, congenital, 1; Spinocerebellar ataxia 40 0 1 5 2007-05-15 Q9P253 VPS18_HUMAN VPS18 Vacuolar protein sorting-associated protein 18 homolog 973 110.2 15 Late endosome membrane; Lysosome membrane; Early endosome; Cytoplasmic vesicle 0 0 0 1 5 2002-09-19 Q9P2B4 CT2NL_HUMAN CTTNBP2NL CTTNBP2 N-terminal-like protein 639 70.2 1 Cell projection; Cytoplasm 0 0 0 1 5 2006-03-07 Q9P2D0 IBTK_HUMAN IBTK Inhibitor of Bruton tyrosine kinase 1353 150.5 6 Cytoplasm; Membrane 0 0 0 1 5 2007-03-20 Q9P2G1 AKIB1_HUMAN ANKIB1 Ankyrin repeat and IBR domain-containing protein 1 1089 122 7 2.3.2.31 0 0 0 1 5 2005-01-04 Q9P2G9 KLHL8_HUMAN KLHL8 Kelch-like protein 8 620 68.8 4 0 0 0 1 5 2003-02-12 Q9P2J3 KLHL9_HUMAN KLHL9 Kelch-like protein 9 617 69.4 9 0 0 0 1 5 2001-04-27 Q9P2K9 DISP3_HUMAN DISP3 Protein dispatched homolog 3 1392 153 1 Endoplasmic reticulum membrane; Nucleus membrane; Cytoplasmic vesicle membrane 12 0 0 1 5 2007-10-23 Q9P2N4 ATS9_HUMAN ADAMTS9 A disintegrin and metalloproteinase with thrombospondin motifs 9 1935 216.5 3 3.4.24.- Secreted; Endoplasmic reticulum; Cell projection; Recycling endosome 0 0 0 1 5 2001-04-27 Q9P2R3 ANFY1_HUMAN ANKFY1 Ankyrin repeat and FYVE domain-containing protein 1 1169 128.4 17 Cytoplasm; Endosome membrane; Early endosome 0 0 0 1 5 2003-08-04 Q9P2X0 DPM3_HUMAN DPM3 Dolichol-phosphate mannosyltransferase subunit 3 92 10.1 1 Endoplasmic reticulum membrane 2 2 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15; Muscular dystrophy-dystroglycanopathy limb-girdle C15 0 1 5 2002-01-23 Q9UBB6 NCDN_HUMAN NCDN Neurochondrin 729 78.9 1 Cytoplasm; Endosome membrane; Cell projection; Postsynapse 0 1 Neurodevelopmental disorder with infantile epileptic spasms 0 1 5 2008-03-18 Q9UBC0 HNF6_HUMAN ONECUT1 Hepatocyte nuclear factor 6 465 51 15 Nucleus 0 0 0 1 5 2001-04-27 Q9UBC2 EP15R_HUMAN EPS15L1 Epidermal growth factor receptor substrate 15-like 1 864 94.3 19 Cell membrane; Nucleus; Membrane 0 0 0 1 5 2004-07-05 Q9UBD3 XCL2_HUMAN XCL2 Cytokine SCM-1 beta 114 12.6 1 Secreted 0 0 0 1 5 2000-12-01 Q9UBI4 STML1_HUMAN STOML1 Stomatin-like protein 1 398 43 15 Membrane; Late endosome membrane; Membrane raft; Cell membrane; Cytoplasmic vesicle 1 0 0 1 5 2005-02-01 Q9UBM1 PEMT_HUMAN PEMT Phosphatidylethanolamine N-methyltransferase 199 22.1 17 2.1.1.17, 2.1.1.71 Endoplasmic reticulum 3 0 0 1 5 2000-12-01 Q9UBM8 MGT4C_HUMAN MGAT4C Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C 478 56.1 12 2.4.1.145 Golgi apparatus membrane 1 0 0 1 5 2007-05-29 Q9UBS4 DJB11_HUMAN DNAJB11 DnaJ homolog subfamily B member 11 358 40.5 3 Endoplasmic reticulum lumen 0 1 Polycystic kidney disease 6 with or without polycystic liver disease 0 1 5 2001-10-18 Q9UBW7 ZMYM2_HUMAN ZMYM2 Zinc finger MYM-type protein 2 1377 154.9 13 Nucleus 0 1 Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 0 1 5 2001-11-16 Q9UBX7 KLK11_HUMAN KLK11 Kallikrein-11 282 31.1 19 3.4.21.- Secreted 0 1 Ichthyosis with erythrokeratoderma 0 1 5 2000-12-01 Q9UDY4 DNJB4_HUMAN DNAJB4 DnaJ homolog subfamily B member 4 337 37.8 1 Cytoplasm; Cell membrane 0 1 Congenital myopathy 21 with early respiratory failure 0 1 5 2000-12-01 Q9UFB7 ZBT47_HUMAN ZBTB47 Zinc finger and BTB domain-containing protein 47 747 82.8 3 Nucleus 0 0 0 1 5 2006-10-03 Q9UGH3 S23A2_HUMAN SLC23A2 Solute carrier family 23 member 2 650 70.3 20 Cell membrane 12 0 0 1 5 2002-10-19 Q9UGQ2 FLOWR_HUMAN CACFD1 Calcium channel flower homolog 172 18.5 9 Cell membrane; Cytoplasmic vesicle; Golgi apparatus; Vesicle 4 0 0 1 5 2005-03-15 Q9UGQ3 GTR6_HUMAN SLC2A6 Solute carrier family 2, facilitated glucose transporter member 6 507 54.5 9 Lysosome membrane 12 0 0 1 5 2001-11-16 Q9UGT4 SUSD2_HUMAN SUSD2 Sushi domain-containing protein 2 822 90.2 22 Cell membrane 1 0 0 1 5 2006-09-19 Q9UGU5 HMGX4_HUMAN HMGXB4 HMG domain-containing protein 4 601 65.7 22 Nucleus 0 0 0 1 5 2001-01-24 Q9UGY1 NOL12_HUMAN NOL12 Nucleolar protein 12 213 24.7 22 Nucleus; Cytoplasm 0 0 0 1 5 2007-01-09 Q9UHC1 MLH3_HUMAN MLH3 DNA mismatch repair protein Mlh3 1453 163.7 14 Nucleus 0 2 Hereditary non-polyposis colorectal cancer 7; Colorectal cancer 0 1 5 2001-04-27 Q9UHG3 PCYOX_HUMAN PCYOX1 Prenylcysteine oxidase 1 505 56.6 2 1.8.3.5 Lysosome 0 0 0 1 5 2000-12-01 Q9UHH9 IP6K2_HUMAN IP6K2 Inositol hexakisphosphate kinase 2 426 49.2 3 2.7.4.- Nucleus 0 0 0 1 5 2004-07-19 Q9UHY1 NRBP_HUMAN NRBP1 Nuclear receptor-binding protein 535 59.8 2 Cytoplasm; Endomembrane system; Cell projection 0 0 0 1 5 2006-01-10 Q9UHY8 FEZ2_HUMAN FEZ2 Fasciculation and elongation protein zeta-2 353 39.7 2 0 0 0 1 5 2001-02-21 Q9UI33 SCNBA_HUMAN SCN11A Sodium channel protein type 11 subunit alpha 1791 204.9 3 Cell membrane 24 2 Neuropathy, hereditary sensory and autonomic, 7; Episodic pain syndrome, familial, 3 0 1 5 2004-12-21 Q9UID6 ZN639_HUMAN ZNF639 Zinc finger protein 639 485 56.1 3 Nucleus 0 0 0 1 5 2004-08-16 Q9UIL4 KIF25_HUMAN KIF25 Kinesin-like protein KIF25 384 40.7 6 Cytoplasm 0 0 0 1 5 2002-01-23 Q9UIR0 BTNL2_HUMAN BTNL2 Butyrophilin-like protein 2 482 53.5 6 Membrane 1 1 Sarcoidosis 2 0 1 5 2005-02-01 Q9UJ14 GGT7_HUMAN GGT7 Glutathione hydrolase 7 662 70.5 20 3.4.19.13 Membrane 1 0 0 1 5 2003-08-29 Q9UJ68 MSRA_HUMAN MSRA Mitochondrial peptide methionine sulfoxide reductase 235 26.1 8 1.8.4.11 Mitochondrion; Mitochondrion matrix; Cytoplasm 0 0 0 1 5 2001-01-11 Q9UJ96 KCNG2_HUMAN KCNG2 Voltage-gated potassium channel regulatory subunit KCNG2 466 51.2 18 Cell membrane 6 0 0 1 5 2002-10-25 Q9UJW2 TINAG_HUMAN TINAG Tubulointerstitial nephritis antigen 476 54.6 6 Secreted 0 0 0 1 5 2003-08-15 Q9UJX0 OSGI1_HUMAN OSGIN1 Oxidative stress-induced growth inhibitor 1 477 52 16 1.14.13.- Midbody 0 0 0 1 5 2000-12-01 Q9UK22 FBX2_HUMAN FBXO2 F-box only protein 2 296 33.3 1 Cytoplasm; Microsome membrane 0 0 0 1 5 2001-02-21 Q9UK58 CCNL1_HUMAN CCNL1 Cyclin-L1 526 59.6 3 Nucleus speckle; Nucleus 0 0 0 1 5 2005-11-08 Q9UKA4 AKA11_HUMAN AKAP11 A-kinase anchor protein 11 1901 210.5 13 Cytoplasm 0 0 0 1 5 2001-04-27 Q9UKF2 ADA30_HUMAN ADAM30 Disintegrin and metalloproteinase domain-containing protein 30 790 88.9 1 3.4.24.- Late endosome membrane 1 0 0 1 5 2001-06-20 Q9UKX3 MYH13_HUMAN MYH13 Myosin-13 1938 223.6 17 Cytoplasm 0 0 0 1 5 2001-04-27 Q9UKX5 ITA11_HUMAN ITGA11 Integrin alpha-11 1188 133.5 15 Membrane 1 0 0 1 5 2000-12-01 Q9UKY4 POMT2_HUMAN POMT2 Protein O-mannosyl-transferase 2 750 84.2 14 2.4.1.109 Endoplasmic reticulum membrane 10 3 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2; Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2; Muscular dystrophy-dystroglycanopathy limb-girdle C2 0 1 5 2003-06-20 Q9UL49 TCFL5_HUMAN TCFL5 Transcription factor-like 5 protein 500 52.7 20 Nucleus 0 0 0 1 5 2003-01-10 Q9ULC0 MUCEN_HUMAN EMCN Endomucin 261 27.5 4 Cell membrane; Membrane 1 0 0 1 5 2004-07-19 Q9ULC5 ACSL5_HUMAN ACSL5 Long-chain-fatty-acid--CoA ligase 5 683 76 10 6.2.1.3 Mitochondrion; Endoplasmic reticulum; Mitochondrion outer membrane; Endoplasmic reticulum membrane; Cell membrane 1 1 Diarrhea 13 0 1 5 2001-04-27 Q9ULD5 ZN777_HUMAN ZNF777 Zinc finger protein 777 831 93.8 7 Nucleus 0 0 0 1 5 2007-07-10 Q9ULD8 KCNH3_HUMAN KCNH3 Voltage-gated inwardly rectifying potassium channel KCNH3 1083 117.1 12 Cell membrane 6 0 0 1 5 2002-11-28 Q9ULH4 LRFN2_HUMAN LRFN2 Leucine-rich repeat and fibronectin type-III domain-containing protein 2 789 84.7 6 Membrane; Synapse; Postsynaptic cell membrane 1 0 0 1 5 2005-03-29 Q9ULJ1 ODF2L_HUMAN ODF2L Protein BCAP 636 73.7 1 Cytoplasm 0 0 0 1 5 2007-10-23 Q9ULX6 AKP8L_HUMAN AKAP8L A-kinase anchor protein 8-like 646 71.6 19 Nucleus; Nucleus matrix; Nucleus speckle; Cytoplasm 0 0 0 1 5 2001-04-27 Q9ULX9 MAFF_HUMAN MAFF Transcription factor MafF 164 17.8 22 Nucleus 0 0 0 1 5 2002-06-20 Q9UM44 HHLA2_HUMAN HHLA2 HERV-H LTR-associating protein 2 414 46.9 3 Membrane 1 0 0 1 5 2006-09-19 Q9UNF1 MAGD2_HUMAN MAGED2 Melanoma-associated antigen D2 606 65 X 0 1 Bartter syndrome 5, antenatal, transient 0 1 5 2001-09-26 Q9UNK0 STX8_HUMAN STX8 Syntaxin-8 236 26.9 17 Membrane 1 0 0 1 5 2000-12-01 Q9UNT1 RBL2B_HUMAN RABL2B Rab-like protein 2B 228 26.1 22 3.6.5.2 Cytoplasm 0 0 0 1 5 2000-12-01 Q9UNX9 KCJ14_HUMAN KCNJ14 ATP-sensitive inward rectifier potassium channel 14 436 47.8 19 Membrane 2 0 0 1 5 2004-10-11 Q9UP52 TFR2_HUMAN TFR2 Transferrin receptor protein 2 801 88.8 7 Cell membrane 1 1 Hemochromatosis 3 0 1 5 2002-02-11 Q9UPG8 PLAL2_HUMAN PLAGL2 Zinc finger protein PLAGL2 496 54.6 20 Nucleus 0 0 0 1 5 2001-06-20 Q9UPN4 CP131_HUMAN CEP131 Centrosomal protein of 131 kDa 1083 122.1 17 Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 2005-10-11 Q9UPQ0 LIMC1_HUMAN LIMCH1 LIM and calponin homology domains-containing protein 1 1083 121.9 4 Cytoplasm 0 0 0 1 5 2007-07-10 Q9UPR0 PLCL2_HUMAN PLCL2 Inactive phospholipase C-like protein 2 1127 125.9 3 Cytoplasm 0 0 0 1 5 2007-05-29 Q9UPY6 WASF3_HUMAN WASF3 Actin-binding protein WASF3 502 55.3 13 Cytoplasm 0 0 0 1 5 2001-04-27 Q9UQ07 MOK_HUMAN MOK MAPK/MAK/MRK overlapping kinase 419 48 14 2.7.11.22 Cytoplasm; Cell projection; Nucleus 0 0 0 1 5 2004-01-16 Q9Y240 CLC11_HUMAN CLEC11A C-type lectin domain family 11 member A 323 35.7 19 Cytoplasm; Secreted 0 0 0 1 5 2003-08-22 Q9Y247 FA50B_HUMAN FAM50B Protein FAM50B 325 38.7 6 0 0 0 1 5 2003-10-10 Q9Y2B5 VP9D1_HUMAN VPS9D1 VPS9 domain-containing protein 1 631 69 16 0 0 0 1 5 2005-07-19 Q9Y2H0 DLGP4_HUMAN DLGAP4 Disks large-associated protein 4 992 108 20 Membrane 0 0 0 1 5 2001-09-26 Q9Y2P7 ZN256_HUMAN ZNF256 Zinc finger protein 256 627 71.9 19 Nucleus 0 0 0 1 5 2001-01-24 Q9Y2R0 COA3_HUMAN COA3 Cytochrome c oxidase assembly factor 3 homolog, mitochondrial 106 11.7 17 Mitochondrion inner membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 14 0 1 5 2006-06-13 Q9Y2Y6 TMM98_HUMAN TMEM98 Transmembrane protein 98 226 24.6 17 Cell membrane; Secreted; Endoplasmic reticulum membrane 1 1 Nanophthalmos 4 0 1 5 2006-10-03 Q9Y2Z2 MTO1_HUMAN MTO1 5-taurinomethyluridine-[tRNA] synthase subunit MTO1, mitochondrial 717 80 6 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 10 0 1 5 2000-05-30 Q9Y305 ACOT9_HUMAN ACOT9 Acyl-coenzyme A thioesterase 9, mitochondrial 439 49.9 X 3.1.2.-, 3.1.2.2 Mitochondrion; Mitochondrion matrix; Mitochondrion inner membrane 0 0 0 1 5 2000-12-08 Q9Y375 CIA30_HUMAN NDUFAF1 Complex I intermediate-associated protein 30, mitochondrial 327 37.8 15 Mitochondrion; Mitochondrion matrix 0 1 Mitochondrial complex I deficiency, nuclear type 11 0 1 5 2000-05-30 Q9Y394 DHRS7_HUMAN DHRS7 Dehydrogenase/reductase SDR family member 7 339 38.3 14 1.1.1.- Endoplasmic reticulum membrane 0 0 0 1 5 2003-08-29 Q9Y3A0 COQ4_HUMAN COQ4 Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial 265 29.7 9 Mitochondrion inner membrane 0 2 Coenzyme Q10 deficiency, primary, 7; Spastic ataxia 10, autosomal recessive 0 1 5 2002-10-19 Q9Y3A6 TMED5_HUMAN TMED5 Transmembrane emp24 domain-containing protein 5 229 26 1 Endoplasmic reticulum membrane; Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane 1 0 0 1 5 2001-01-24 Q9Y3D0 CIA2B_HUMAN CIAO2B Cytosolic iron-sulfur assembly component 2B 163 17.7 16 Nucleus; Cytoplasm; Midbody 0 0 0 1 5 2002-05-02 Q9Y3M9 ZN337_HUMAN ZNF337 Zinc finger protein 337 751 86.9 20 Nucleus 0 0 0 1 5 2002-01-23 Q9Y3Q7 ADA18_HUMAN ADAM18 Disintegrin and metalloproteinase domain-containing protein 18 739 82.9 8 Membrane 1 0 0 1 5 2002-01-31 Q9Y446 PKP3_HUMAN PKP3 Plakophilin-3 797 87.1 11 Nucleus; Cell junction; Cytoplasm; Cell membrane 0 0 0 1 5 2002-01-23 Q9Y4B5 MTCL1_HUMAN MTCL1 Microtubule cross-linking factor 1 1905 209.5 18 Lateral cell membrane; Apical cell membrane; Cytoplasm; Midbody 0 0 0 1 5 2007-03-06 Q9Y4C4 MFHA1_HUMAN MFHAS1 Malignant fibrous histiocytoma-amplified sequence 1 1052 117 8 Cytoplasm 0 0 0 1 5 2007-10-23 Q9Y4C5 CHST2_HUMAN CHST2 Carbohydrate sulfotransferase 2 530 57.9 3 2.8.2.- Golgi apparatus 1 0 0 1 5 2005-03-15 Q9Y4K4 M4K5_HUMAN MAP4K5 Mitogen-activated protein kinase kinase kinase kinase 5 846 95.1 14 2.7.11.1 Cytoplasm 0 0 0 1 5 2003-04-30 Q9Y4X4 KLF12_HUMAN KLF12 Krueppel-like factor 12 402 44.2 13 Nucleus 0 0 0 1 5 2001-11-02 Q9Y4Z2 NGN3_HUMAN NEUROG3 Neurogenin-3 214 23.1 10 Nucleus 0 1 Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency 0 1 5 2002-03-27 Q9Y576 ASB1_HUMAN ASB1 Ankyrin repeat and SOCS box protein 1 335 37 2 Cytoplasm 0 0 0 1 5 2002-05-10 Q9Y5E3 PCDB6_HUMAN PCDHB6 Protocadherin beta-6 794 87.3 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5I3 PCDA1_HUMAN PCDHA1 Protocadherin alpha-1 950 103 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5L3 ENTP2_HUMAN ENTPD2 Ectonucleoside triphosphate diphosphohydrolase 2 495 53.7 9 3.6.1.5 Cell membrane 2 0 0 1 5 2001-08-29 Q9Y5L4 TIM13_HUMAN TIMM13 Mitochondrial import inner membrane translocase subunit Tim13 95 10.5 19 Mitochondrion inner membrane 0 0 0 1 5 2001-01-11 Q9Y5Q0 FADS3_HUMAN FADS3 Fatty acid desaturase 3 445 51.1 11 1.14.19.- Endoplasmic reticulum membrane 4 0 0 1 5 2007-10-02 Q9Y5R5 DMRT2_HUMAN DMRT2 Doublesex- and mab-3-related transcription factor 2 561 61.8 9 Nucleus 0 1 Spondylocostal dysostosis 7, autosomal recessive 0 1 5 2000-12-01 Q9Y620 RA54B_HUMAN RAD54B DNA repair and recombination protein RAD54B 910 103 8 3.6.4.- Nucleus 0 0 0 1 5 2004-08-16 Q9Y694 S22A7_HUMAN SLC22A7 Solute carrier family 22 member 7 548 60 6 Basolateral cell membrane; Apical cell membrane; Cell membrane 12 0 0 1 5 2008-02-05 Q9Y6A1 POMT1_HUMAN POMT1 Protein O-mannosyl-transferase 1 747 84.9 9 2.4.1.109 Endoplasmic reticulum membrane 12 3 Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1; Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1; Muscular dystrophy-dystroglycanopathy limb-girdle C1 0 1 5 2003-06-20 Q9Y6E2 5MP1_HUMAN BZW2 eIF5-mimic protein 1 419 48.2 7 Cytoplasm 0 0 0 1 5 2006-10-31 Q9Y6F6 IRAG1_HUMAN IRAG1 Inositol 1,4,5-triphosphate receptor associated 1 904 98 11 Cytoplasm; Sarcoplasmic reticulum; Membrane 1 0 0 1 5 2007-10-02 Q9Y6I4 UBP3_HUMAN USP3 Ubiquitin carboxyl-terminal hydrolase 3 520 58.9 15 3.4.19.12 Nucleus; Cytoplasm 0 0 0 1 5 2000-12-01 Q9Y6N1 COX11_HUMAN COX11 Cytochrome c oxidase assembly protein COX11, mitochondrial 276 31.4 17 Mitochondrion inner membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 23 0 1 5 2000-05-30 Q9Y6N6 LAMC3_HUMAN LAMC3 Laminin subunit gamma-3 1575 171.2 9 Secreted 0 1 Cortical malformations occipital 0 1 5 2001-12-13 Q9Y6Q2 STON1_HUMAN STON1 Stonin-1 735 83.1 2 Cytoplasm; Membrane 0 0 0 1 5 2001-02-21 Q9Y6X6 MYO16_HUMAN MYO16 Unconventional myosin-XVI 1858 206.1 13 Cytoplasm 0 0 0 1 5 2007-05-29 A0AVI4 TM129_HUMAN TMEM129 E3 ubiquitin-protein ligase TM129 362 40.5 4 2.3.2.27 Endoplasmic reticulum membrane 3 0 0 1 5 2007-06-12 A0FGR9 ESYT3_HUMAN ESYT3 Extended synaptotagmin-3 886 100 3 Cell membrane; Endoplasmic reticulum membrane 2 0 0 1 5 2008-01-15 A0PJY2 FEZF1_HUMAN FEZF1 Fez family zinc finger protein 1 475 52 7 Nucleus 0 1 Hypogonadotropic hypogonadism 22 with or without anosmia 0 1 5 2007-07-10 A1E959 ODAM_HUMAN ODAM Odontogenic ameloblast-associated protein 279 30.8 4 Secreted; Cytoplasm; Nucleus 0 0 0 1 5 2008-03-18 A1L0T0 HACL2_HUMAN HACL2 2-hydroxyacyl-CoA lyase 2 632 67.9 19 4.1.2.- Endoplasmic reticulum membrane 1 0 0 1 5 2008-01-15 A1L167 U2QL1_HUMAN UBE2QL1 Ubiquitin-conjugating enzyme E2Q-like protein 1 161 18.3 5 2.3.2.23 Nucleus 0 0 0 1 5 2008-05-20 A1L4H1 SRCRL_HUMAN SSC5D Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D 1573 165.7 19 Secreted; Cytoplasm 0 0 0 1 5 2008-05-20 A2RUH7 MBPHL_HUMAN MYBPHL Myosin-binding protein H-like 354 38.7 1 Cytoplasm 0 0 0 1 5 2008-04-29 A2VEC9 SSPO_HUMAN SSPOP SCO-spondin 5150 547.8 Secreted 0 0 0 2 5 2007-06-12 A4D0S4 LAMB4_HUMAN LAMB4 Laminin subunit beta-4 1761 193.5 7 Secreted 0 0 0 1 5 2007-12-04 A4D2P6 GRD2I_HUMAN GRID2IP Delphilin 1211 132.3 7 Postsynaptic cell membrane 0 0 0 1 5 2008-04-29 A5D8V6 VP37C_HUMAN VPS37C Vacuolar protein sorting-associated protein 37C 355 38.7 11 Late endosome membrane 0 0 0 1 5 2007-12-04 A5X5Y0 5HT3E_HUMAN HTR3E 5-hydroxytryptamine receptor 3E 456 51.4 3 Postsynaptic cell membrane; Cell membrane 4 0 0 1 5 2007-12-04 A5YM72 CRNS1_HUMAN CARNS1 Carnosine synthase 1 827 88.5 11 6.3.2.11 0 0 0 1 5 2008-04-08 A6ND36 SCK1G_HUMAN SACK1G Scaffolding CK1 anchoring protein G 823 90.8 17 Cytoplasm; Nucleus 0 0 0 1 5 2008-04-29 A6NDB9 PALM3_HUMAN PALM3 Paralemmin-3 673 71.7 19 Cytoplasm; Cell membrane 0 0 0 1 5 2008-04-29 A6NFA1 TIKI2_HUMAN TRABD2B Metalloprotease TIKI2 517 57.4 1 3.4.-.- Cell membrane; Membrane raft 0 0 0 1 5 2008-09-02 A6NK89 RASFA_HUMAN RASSF10 Ras association domain-containing protein 10 507 56.9 11 Cytoplasm 0 0 0 1 5 2008-04-29 A6NKF2 ARI3C_HUMAN ARID3C AT-rich interactive domain-containing protein 3C 412 44.1 9 Nucleus 0 0 0 1 5 2008-05-20 A6NNN8 S38A8_HUMAN SLC38A8 Solute carrier family 38 member 8 435 46.7 16 Membrane; Cytoplasm; Cell projection 11 1 Foveal hypoplasia 2 0 1 5 2008-02-26 A6NNZ2 TBB8B_HUMAN TUBB8B Tubulin beta 8B 444 49.6 18 Cytoplasm 0 0 0 1 5 2008-04-29 A7E2Y1 MYH7B_HUMAN MYH7B Myosin-7B 1983 225.8 20 Membrane 0 0 0 1 5 2008-09-02 A8CG34 P121C_HUMAN POM121C Nuclear envelope pore membrane protein POM 121C 1229 125.1 7 Nucleus; Nucleus membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2008-09-02 A8MXV4 NUD19_HUMAN NUDT19 Acyl-coenzyme A diphosphatase NUDT19 375 42.2 19 3.6.1.-, 3.6.1.77 Peroxisome 0 0 0 1 5 2008-03-18 B2RTY4 MYO9A_HUMAN MYO9A Unconventional myosin-IXa 2548 292.7 15 Membrane; Cytoplasm; Synapse; Cell projection 1 1 Myasthenic syndrome, congenital, 24, presynaptic 0 1 5 2008-09-02 B2RXF5 ZBT42_HUMAN ZBTB42 Zinc finger and BTB domain-containing protein 42 422 46.5 14 Cytoplasm; Nucleus 0 1 Lethal congenital contracture syndrome 6 0 1 5 2008-07-22 B7ZBB8 PP13G_HUMAN PPP1R3G Protein phosphatase 1 regulatory subunit 3G 358 38 6 0 0 0 1 5 2010-06-15 C9JE40 PATL2_HUMAN PATL2 Protein PAT1 homolog 2 543 61.5 15 Cytoplasm; Nucleus 0 1 Oocyte/zygote/embryo maturation arrest 4 0 1 5 2011-02-08 H3BS89 T178B_HUMAN TMEM178B Transmembrane protein 178B 294 33.4 7 Membrane 3 0 0 1 5 2012-10-03 K7EJ46 SIM22_HUMAN SMIM22 Small integral membrane protein 22 83 9.2 16 Membrane; Late endosome 1 0 0 1 5 2013-11-13 O00155 GPR25_HUMAN GPR25 C-X-C chemokine receptor GPR25 361 38.8 1 Cell membrane 7 0 0 1 5 1998-07-15 O00221 IKBE_HUMAN NFKBIE NF-kappa-B inhibitor epsilon 500 52.9 6 Cytoplasm 0 0 0 1 5 2001-06-20 O00292 LFTY2_HUMAN LEFTY2 Left-right determination factor 2 366 40.9 1 Secreted 0 1 Left-right axis malformations 0 1 5 1997-11-01 O00421 CCRL2_HUMAN CCRL2 C-C chemokine receptor-like 2 344 39.5 3 Cell membrane 7 0 0 1 5 2006-05-30 O00559 RCAS1_HUMAN EBAG9 Receptor-binding cancer antigen expressed on SiSo cells 213 24.4 8 Golgi apparatus membrane 1 0 0 1 5 2000-12-01 O00574 CXCR6_HUMAN CXCR6 C-X-C chemokine receptor type 6 342 39.3 3 Cell membrane 7 0 0 1 5 1998-07-15 O14511 NRG2_HUMAN NRG2 Pro-neuregulin-2, membrane-bound isoform 850 91.7 5 Cell membrane 1 0 0 1 5 1998-12-15 O14569 C56D2_HUMAN CYB561D2 Transmembrane reductase CYB561D2 222 24 3 7.2.1.3 Endoplasmic reticulum membrane; Cytoplasmic vesicle membrane 6 0 0 1 5 2005-05-10 O14626 GP171_HUMAN GPR171 G protein-coupled receptor 171 319 36.8 3 Cell membrane 7 0 0 1 5 2000-05-30 O14633 LCE2B_HUMAN LCE2B Late cornified envelope protein 2B 110 11.2 1 0 0 0 1 5 2004-11-09 O14639 ABLM1_HUMAN ABLIM1 Actin-binding LIM protein 1 778 87.7 10 Cytoplasm 0 0 0 1 5 2004-12-07 O14682 ENC1_HUMAN ENC1 Ectoderm-neural cortex protein 1 589 66.1 5 Nucleus matrix; Cytoplasm 0 0 0 1 5 2000-05-30 O14734 ACOT8_HUMAN ACOT8 Acyl-coenzyme A thioesterase 8 319 35.9 20 3.1.2.1, 3.1.2.11, 3.1.2.2, 3.1.2.3, 3.1.2.5 Peroxisome matrix 0 0 0 1 5 2001-06-01 O14798 TR10C_HUMAN TNFRSF10C Tumor necrosis factor receptor superfamily member 10C 259 27.4 8 Cell membrane 0 0 0 1 5 2001-09-26 O14828 SCAM3_HUMAN SCAMP3 Secretory carrier-associated membrane protein 3 347 38.3 1 Membrane 4 0 0 1 5 1998-12-15 O14896 IRF6_HUMAN IRF6 Interferon regulatory factor 6 467 53.1 1 Nucleus; Cytoplasm 0 3 Van der Woude syndrome 1; Popliteal pterygium syndrome; Non-syndromic orofacial cleft 6 0 1 5 1998-07-15 O15040 TCPR2_HUMAN TECPR2 Tectonin beta-propeller repeat-containing protein 2 1411 153.8 14 0 1 Neuropathy, hereditary sensory and autonomic, 9, with developmental delay 0 1 5 2001-02-21 O15060 ZBT39_HUMAN ZBTB39 Zinc finger and BTB domain-containing protein 39 712 79 12 Nucleus 0 0 0 1 5 2001-10-18 O15072 ATS3_HUMAN ADAMTS3 A disintegrin and metalloproteinase with thrombospondin motifs 3 1205 135.6 4 3.4.24.- Secreted 0 1 Hennekam lymphangiectasia-lymphedema syndrome 3 0 1 5 2000-12-01 O15165 LRAD4_HUMAN LDLRAD4 Low-density lipoprotein receptor class A domain-containing protein 4 306 33.9 18 Early endosome membrane 1 0 0 1 5 2001-01-24 O15195 VILL_HUMAN VILL Villin-like protein 856 95.9 3 0 0 0 1 5 2001-06-20 O15209 ZBT22_HUMAN ZBTB22 Zinc finger and BTB domain-containing protein 22 634 65.6 6 Nucleus 0 0 0 1 5 2002-09-19 O15231 ZN185_HUMAN ZNF185 Zinc finger protein 185 689 73.5 X Cytoplasm; Cell junction 0 0 0 1 5 1999-07-15 O15254 ACOX3_HUMAN ACOX3 Peroxisomal acyl-coenzyme A oxidase 3 700 77.6 4 1.3.3.6 Peroxisome 0 0 0 1 5 2001-11-02 O15355 PPM1G_HUMAN PPM1G Protein phosphatase 1G 546 59.3 2 3.1.3.16 Cytoplasm; Membrane 0 0 0 1 5 1998-07-15 O15432 COPT2_HUMAN SLC31A2 Protein SLC31A2 143 15.7 9 Membrane; Cytoplasmic vesicle membrane; Late endosome membrane; Lysosome membrane 3 0 0 1 5 2001-01-11 O15499 GSC2_HUMAN GSC2 Homeobox protein goosecoid-2 205 21.5 22 Nucleus 0 0 0 1 5 2000-05-30 O43147 SGSM2_HUMAN SGSM2 Small G protein signaling modulator 2 1006 113.3 17 Cytoplasm; Melanosome 0 0 0 1 5 2007-04-17 O43194 GPR39_HUMAN GPR39 G protein-coupled receptor 39 453 51.3 2 Cell membrane 7 0 0 1 5 1998-12-15 O43280 TREA_HUMAN TREH Trehalase 583 66.6 11 3.2.1.28 Cell membrane 0 1 Trehalase deficiency 0 1 5 1998-07-15 O43296 ZN264_HUMAN ZNF264 Zinc finger protein 264 627 70.6 19 Nucleus 0 0 0 1 5 2001-06-20 O43313 ATMIN_HUMAN ATMIN ATM interactor 823 88.3 16 Nucleus 0 0 0 1 5 2001-02-21 O43316 PAX4_HUMAN PAX4 Paired box protein Pax-4 350 37.8 7 Nucleus; Chromosome 0 3 Type 2 diabetes mellitus; Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young 9 0 1 5 1998-12-15 O43462 MBTP2_HUMAN MBTPS2 Membrane-bound transcription factor site-2 protease 519 57.4 X 3.4.24.85 Membrane; Cytoplasm; Golgi apparatus membrane 10 4 IFAP syndrome 1, with or without Bresheck syndrome; Olmsted syndrome, X-linked; Keratosis follicularis spinulosa decalvans X-linked; Osteogenesis imperfecta 19 0 1 5 1999-07-15 O43505 B4GA1_HUMAN B4GAT1 Beta-1,4-glucuronyltransferase 1 415 47.1 11 2.4.1.- Golgi apparatus membrane 1 1 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 0 1 5 2002-09-19 O43679 LDB2_HUMAN LDB2 LIM domain-binding protein 2 373 42.8 4 Nucleus 0 0 0 1 5 2005-07-05 O43680 TCF21_HUMAN TCF21 Transcription factor 21 179 19.7 6 Nucleus 0 0 0 1 5 2001-08-14 O43684 BUB3_HUMAN BUB3 Mitotic checkpoint protein BUB3 328 37.2 10 Nucleus; Chromosome 0 0 0 1 5 2000-05-30 O43699 SIGL6_HUMAN SIGLEC6 Sialic acid-binding Ig-like lectin 6 453 49.9 19 Cell membrane 1 0 0 1 5 2002-11-08 O43711 TLX3_HUMAN TLX3 T-cell leukemia homeobox protein 3 291 31.9 5 Nucleus 0 0 0 1 5 1999-07-15 O43795 MYO1B_HUMAN MYO1B Unconventional myosin-Ib 1136 132 2 0 0 0 1 5 2001-04-27 O43861 ATP9B_HUMAN ATP9B Probable phospholipid-transporting ATPase IIB 1147 129.3 18 7.6.2.1 Golgi apparatus 10 0 0 1 5 2000-05-30 O43900 PRIC3_HUMAN PRICKLE3 Prickle planar cell polarity protein 3 615 68.6 X Cytoplasm; Cell membrane; Mitochondrion 0 1 Leber hereditary optic neuropathy, modifier 0 1 5 1998-12-15 O60220 TIM8A_HUMAN TIMM8A Mitochondrial import inner membrane translocase subunit Tim8 A 97 11 X Mitochondrion inner membrane 0 1 Mohr-Tranebjaerg syndrome 0 1 5 1999-07-15 O60240 PLIN1_HUMAN PLIN1 Perilipin-1 522 56 15 Endoplasmic reticulum; Lipid droplet 0 1 Lipodystrophy, familial partial, 4 0 1 5 2000-05-30 O60248 SOX15_HUMAN SOX15 Transcription factor SOX-15 233 25.3 17 Nucleus 0 0 0 1 5 1998-12-15 O60285 NUAK1_HUMAN NUAK1 NUAK family SNF1-like kinase 1 661 74.3 12 2.7.11.1 Nucleus; Cytoplasm 0 0 0 1 5 2001-06-20 O60293 ZC3H1_HUMAN ZFC3H1 Zinc finger C3H1 domain-containing protein 1989 226.4 12 Nucleus 0 0 0 1 5 2007-05-01 O60336 MABP1_HUMAN MAPKBP1 Mitogen-activated protein kinase-binding protein 1 1514 163.8 15 Cytoplasm; Nucleus 0 1 Nephronophthisis 20 0 1 5 2008-05-20 O60337 MARH6_HUMAN MARCHF6 E3 ubiquitin-protein ligase MARCHF6 910 102.5 5 2.3.2.27 Endoplasmic reticulum membrane 14 1 Epilepsy, familial adult myoclonic, 3 0 1 5 2007-02-06 O60346 PHLP1_HUMAN PHLPP1 PH domain leucine-rich repeat-containing protein phosphatase 1 1717 184.7 18 3.1.3.16 Cytoplasm; Membrane; Nucleus 0 0 0 1 5 2005-06-07 O60359 CCG3_HUMAN CACNG3 Voltage-dependent calcium channel gamma-3 subunit 315 35.5 16 Membrane 4 0 0 1 5 2000-05-30 O60476 MA1A2_HUMAN MAN1A2 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB 641 73 1 3.2.1.113 Golgi apparatus membrane 1 0 0 1 5 2001-11-16 O60513 B4GT4_HUMAN B4GALT4 Beta-1,4-galactosyltransferase 4 344 40 3 2.4.1.- Golgi apparatus membrane; Secreted 1 0 0 1 5 2001-02-21 O60516 4EBP3_HUMAN EIF4EBP3 Eukaryotic translation initiation factor 4E-binding protein 3 100 10.9 5 Cytoplasm; Nucleus 0 0 0 1 5 2003-09-19 O60645 EXOC3_HUMAN EXOC3 Exocyst complex component 3 745 85.6 5 Cytoplasm; Cell projection; Midbody; Golgi apparatus 0 0 0 1 5 2002-10-25 O60721 NCKX1_HUMAN SLC24A1 Sodium/potassium/calcium exchanger 1 1099 121.4 15 Cell membrane 11 1 Night blindness, congenital stationary, 1D 0 1 5 2001-12-13 O60725 ICMT_HUMAN ICMT Protein-S-isoprenylcysteine O-methyltransferase 284 31.9 1 2.1.1.100 Endoplasmic reticulum membrane 8 0 0 1 5 2001-06-20 O60830 TI17B_HUMAN TIMM17B Mitochondrial import inner membrane translocase subunit Tim17-B 172 18.3 X Mitochondrion inner membrane 3 0 0 1 5 2001-01-11 O60858 TRI13_HUMAN TRIM13 E3 ubiquitin-protein ligase TRIM13 407 47 13 2.3.2.27 Endoplasmic reticulum membrane 1 0 0 1 5 2000-12-01 O60890 OPHN1_HUMAN OPHN1 Oligophrenin-1 802 91.6 X Postsynapse; Presynapse; Cell projection; Cytoplasm 0 1 Intellectual developmental disorder, X-linked, syndromic, Billuart type 0 1 5 2002-07-11 O75069 TMCC2_HUMAN TMCC2 Transmembrane and coiled-coil domains protein 2 709 77.4 1 Endoplasmic reticulum membrane 2 0 0 1 5 1998-12-15 O75106 AOC2_HUMAN AOC2 Amine oxidase [copper-containing] 2 756 83.7 17 1.4.3.21 Cell membrane 1 0 0 1 5 1999-07-15 O75121 MFA3L_HUMAN MFAP3L Microfibrillar-associated protein 3-like 409 45.4 4 Cell membrane; Nucleus; Cytoplasm 1 0 0 1 5 2004-07-19 O75179 ANR17_HUMAN ANKRD17 Ankyrin repeat domain-containing protein 17 2603 274.3 4 Cytoplasm; Nucleus 0 1 Chopra-Amiel-Gordon syndrome 0 1 5 2007-10-23 O75312 ZPR1_HUMAN ZPR1 Zinc finger protein ZPR1 459 50.9 11 Nucleus; Cytoplasm; Cell projection 0 1 Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 0 1 5 1999-07-15 O75342 LX12B_HUMAN ALOX12B Arachidonate 12-lipoxygenase, 12R-type 701 80.4 17 1.13.11.- Cytoplasm 0 1 Ichthyosis, congenital, autosomal recessive 2 0 1 5 2001-01-11 O75364 PITX3_HUMAN PITX3 Pituitary homeobox 3 302 31.8 10 Nucleus 0 2 Anterior segment dysgenesis 1; Cataract 11, multiple types 0 1 5 1999-07-15 O75409 HYPM_HUMAN H2AP Huntingtin-interacting protein M 117 13.4 X 0 0 0 1 5 2006-10-31 O75426 FBX24_HUMAN FBXO24 F-box only protein 24 580 64.9 7 Mitochondrion; Nucleus 0 0 0 1 5 2001-02-21 O75439 MPPB_HUMAN PMPCB Mitochondrial-processing peptidase subunit beta 489 54.4 7 3.4.24.64 Mitochondrion matrix 0 1 Multiple mitochondrial dysfunctions syndrome 6 0 1 5 1998-12-15 O75578 ITA10_HUMAN ITGA10 Integrin alpha-10 1167 127.6 1 Membrane 1 0 0 1 5 2000-12-01 O75600 KBL_HUMAN GCAT 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial 419 45.3 22 2.3.1.29 Mitochondrion; Nucleus 0 0 0 1 5 2000-05-30 O75603 GCM2_HUMAN GCM2 Chorion-specific transcription factor GCMb 506 56.6 6 Nucleus 0 2 Hypoparathyroidism, familial isolated, 2; Hyperparathyroidism 4 0 1 5 2003-07-25 O75841 UPK1B_HUMAN UPK1B Uroplakin-1b 260 29.6 3 Membrane 4 0 0 1 5 1999-07-15 O75881 CP7B1_HUMAN CYP7B1 Cytochrome P450 7B1 506 58.3 8 Endoplasmic reticulum membrane; Microsome membrane 2 2 Spastic paraplegia 5A, autosomal recessive; Congenital bile acid synthesis defect 3 0 1 5 1999-07-15 O75896 TUSC2_HUMAN TUSC2 Tumor suppressor candidate 2 110 12.1 3 0 0 0 1 5 2000-05-30 O75900 MMP23_HUMAN MMP23B Matrix metalloproteinase-23 390 43.9 1 3.4.24.- Endoplasmic reticulum membrane; Membrane 1 0 0 1 5 2006-10-31 O76076 CCN5_HUMAN CCN5 CCN family member 5 250 26.8 20 Secreted 0 0 0 1 5 2002-10-19 O76081 RGS20_HUMAN RGS20 Regulator of G protein signaling 20 388 43.7 8 Membrane; Nucleus; Cytoplasm 0 0 0 1 5 2001-06-20 O94763 RMP_HUMAN URI1 Unconventional prefoldin RPB5 interactor 1 535 59.8 19 Nucleus; Cytoplasm; Mitochondrion; Cell projection 0 0 0 1 5 2002-03-27 O94769 ECM2_HUMAN ECM2 Extracellular matrix protein 2 699 79.8 9 Secreted 0 0 0 1 5 2002-11-08 O94850 DEND_HUMAN DDN Dendrin 711 76 12 Cell projection; Cytoplasm; Endoplasmic reticulum membrane; Perikaryon; Nucleus 0 0 0 1 5 2002-08-30 O94892 ZN432_HUMAN ZNF432 Zinc finger protein 432 652 74.8 19 Nucleus 0 0 0 1 5 2001-10-18 O94911 ABCA8_HUMAN ABCA8 ABC-type organic anion transporter ABCA8 1621 183.7 17 7.6.2.- Cell membrane; Basolateral cell membrane 14 0 0 1 5 2006-10-03 O94956 SO2B1_HUMAN SLCO2B1 Solute carrier organic anion transporter family member 2B1 709 76.7 11 Cell membrane; Basal cell membrane; Basolateral cell membrane; Apical cell membrane 12 0 0 1 5 2000-05-30 O94989 ARHGF_HUMAN ARHGEF15 Rho guanine nucleotide exchange factor 15 841 91.9 17 Cell projection 0 1 Brain small vessel disease 5 with osteoporosis 0 1 5 2004-08-16 O95070 YIF1A_HUMAN YIF1A Protein YIF1A 293 32 11 Endoplasmic reticulum membrane; Golgi apparatus membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane 5 0 0 1 5 2006-05-02 O95072 REC8_HUMAN REC8 Meiotic recombination protein REC8 homolog 547 62.6 14 Nucleus; Chromosome 0 0 0 1 5 2004-01-16 O95185 UNC5C_HUMAN UNC5C Netrin receptor UNC5C 931 103.1 4 Cell membrane; Cell surface; Synapse; Cell projection 1 1 Alzheimer disease 0 1 5 2004-10-11 O95295 SNAPN_HUMAN SNAPIN SNARE-associated protein Snapin 136 14.9 1 Membrane; Cytoplasm; Golgi apparatus membrane; Lysosome membrane; Cytoplasmic vesicle 0 1 Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities 0 1 5 2004-01-16 O95302 FKBP9_HUMAN FKBP9 Peptidyl-prolyl cis-trans isomerase FKBP9 570 63.1 7 5.2.1.8 Endoplasmic reticulum 0 0 0 1 5 2002-09-19 O95359 TACC2_HUMAN TACC2 Transforming acidic coiled-coil-containing protein 2 2948 309.4 10 Cytoplasm; Nucleus 0 0 0 1 5 2001-04-27 O95377 CXB5_HUMAN GJB5 Gap junction beta-5 protein 273 31.1 1 Cell membrane; Cell junction 4 0 0 1 5 1999-07-15 O95389 CCN6_HUMAN CCN6 Cellular communication network factor 6 354 39.3 6 Secreted; Mitochondrion 0 1 Progressive pseudorheumatoid dysplasia 0 1 5 2003-08-15 O95409 ZIC2_HUMAN ZIC2 Zinc finger protein ZIC 2 532 55 13 Nucleus; Cytoplasm 0 1 Holoprosencephaly 5 0 1 5 2000-05-30 O95452 CXB6_HUMAN GJB6 Gap junction beta-6 protein 261 30.4 13 Cell membrane; Cell junction 4 3 Ectodermal dysplasia 2, Clouston type; Deafness, autosomal recessive, 1B; Deafness, autosomal dominant, 3B 0 1 5 1999-07-15 O95460 MATN4_HUMAN MATN4 Matrilin-4 622 68.5 20 Secreted 0 0 0 1 5 2001-06-20 O95500 CLD14_HUMAN CLDN14 Claudin-14 239 25.7 21 Cell junction; Cell membrane 4 1 Deafness, autosomal recessive, 29 0 1 5 2000-05-30 O95573 ACSL3_HUMAN ACSL3 Fatty acid CoA ligase Acsl3 720 80.4 2 Mitochondrion outer membrane; Peroxisome membrane; Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2001-04-27 O95678 K2C75_HUMAN KRT75 Keratin, type II cytoskeletal 75 551 59.6 12 0 1 Loose anagen hair syndrome 0 1 5 2008-01-15 O95751 LDOC1_HUMAN LDOC1 Protein LDOC1 146 17 X Nucleus 0 0 0 1 5 2000-05-30 O95789 ZMYM6_HUMAN ZMYM6 Zinc finger MYM-type protein 6 1325 148.1 1 Nucleus 0 0 0 1 5 2004-08-31 O95810 CAVN2_HUMAN CAVIN2 Caveolae-associated protein 2 425 47.2 2 Cytoplasm; Membrane 0 0 0 1 5 2006-05-30 O95864 FADS2_HUMAN FADS2 Acyl-CoA 6-desaturase 444 52.3 11 1.14.19.3 Endoplasmic reticulum membrane 4 0 0 1 5 2007-10-02 O95870 ABHGA_HUMAN ABHD16A Phosphatidylserine lipase ABHD16A 558 63.2 6 3.1.-.- Membrane 2 1 Spastic paraplegia 86, autosomal recessive 0 1 5 2002-10-10 O95922 TTLL1_HUMAN TTLL1 Polyglutamylase complex subunit TTLL1 423 49 22 6.3.2.- Cytoplasm; Cell projection 0 0 0 1 5 2002-05-02 O95925 EPPI_HUMAN EPPIN Eppin 133 15.3 20 Secreted; Cell surface 0 0 0 1 5 2001-05-04 O95992 CH25H_HUMAN CH25H Cholesterol 25-hydroxylase 272 31.7 10 1.14.99.38 Endoplasmic reticulum membrane 3 0 0 1 5 2006-03-07 O96024 B3GT4_HUMAN B3GALT4 Beta-1,3-galactosyltransferase 4 378 41.5 6 2.4.1.62 Golgi apparatus membrane 1 0 0 1 5 2002-10-10 O97980 HMHB1_HUMAN HMHB1 Minor histocompatibility protein HB-1 41 5 5 0 0 0 1 5 2008-04-29 P01768 HV330_HUMAN IGHV3-30 Immunoglobulin heavy variable 3-30 117 12.9 14 Secreted; Cell membrane 0 0 0 1 5 1986-07-21 P02765 FETUA_HUMAN AHSG Alpha-2-HS-glycoprotein 367 39.3 3 Secreted 0 1 Alopecia-intellectual disability syndrome 1 0 1 5 1986-07-21 P02808 STAT_HUMAN STATH Statherin 62 7.3 4 Secreted 0 0 0 1 5 1986-07-21 P04196 HRG_HUMAN HRG Histidine-rich glycoprotein 525 59.6 3 Secreted 0 1 Thrombophilia due to histidine-rich glycoprotein deficiency 0 1 5 1987-03-20 P04216 THY1_HUMAN THY1 Thy-1 membrane glycoprotein 161 17.9 11 Cell membrane 0 0 0 1 5 1987-03-20 P04259 K2C6B_HUMAN KRT6B Keratin, type II cytoskeletal 6B 564 60.1 12 0 1 Pachyonychia congenita 4 0 1 5 1987-03-20 P04350 TBB4A_HUMAN TUBB4A Tubulin beta-4A chain 444 49.6 19 Cytoplasm 0 2 Dystonia 4, torsion, autosomal dominant; Leukodystrophy, hypomyelinating, 6 0 1 5 1987-03-20 P05114 HMGN1_HUMAN HMGN1 Non-histone chromosomal protein HMG-14 100 10.7 21 Nucleus; Cytoplasm 0 0 0 1 5 1987-08-13 P05408 7B2_HUMAN SCG5 Neuroendocrine protein 7B2 212 23.7 15 Secreted 0 0 0 1 5 1986-07-21 P07099 HYEP_HUMAN EPHX1 Epoxide hydrolase 1 455 52.9 1 3.3.2.9 Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 1988-04-01 P07498 CASK_HUMAN CSN3 Kappa-casein 182 20.3 4 Secreted 0 0 0 1 5 1988-04-01 P08779 K1C16_HUMAN KRT16 Keratin, type I cytoskeletal 16 473 51.3 17 0 2 Pachyonychia congenita 1; Keratoderma, palmoplantar, non-epidermolytic, focal 1 0 1 5 1988-11-01 P09228 CYTT_HUMAN CST2 Cystatin-SA 141 16.4 20 Secreted 0 0 0 1 5 1989-07-01 P09923 PPBI_HUMAN ALPI Intestinal-type alkaline phosphatase 528 56.8 2 3.1.3.1 Cell membrane 0 0 0 1 5 1989-07-01 P0C1Z6 TFPT_HUMAN TFPT TCF3 fusion partner 253 28.3 19 Nucleus 0 0 0 1 5 2006-10-31 P0C2W1 FBSP1_HUMAN FBXO45 F-box/SPRY domain-containing protein 1 286 30.6 3 Secreted; Postsynaptic cell membrane; Presynaptic cell membrane; Nucleus 0 0 0 1 5 2007-05-01 P0C5Y9 H2AB1_HUMAN H2AB1 Histone H2A-Bbd type 1 115 12.7 X Nucleus; Chromosome 0 0 0 1 5 2007-12-04 P0C869 PA24B_HUMAN PLA2G4B Cytosolic phospholipase A2 beta 781 88 15 3.1.1.4 Cytoplasm; Mitochondrion membrane; Early endosome membrane 0 0 0 1 5 2008-09-02 P0CG37 CFC1_HUMAN CFC1 Cryptic protein 223 24.6 2 Cell membrane; Secreted 0 1 Heterotaxy, visceral, 2, autosomal 0 1 5 2010-07-13 P0CW18 PRS56_HUMAN PRSS56 Serine protease 56 603 64.6 2 3.4.21.- 0 1 Microphthalmia, isolated, 6 0 1 5 2011-05-03 P0DJD8 PEPA3_HUMAN PGA3 Pepsin A-3 388 42 11 3.4.23.1 Secreted 0 0 0 1 5 2012-02-22 P0DJJ0 SRG2C_HUMAN SRGAP2C SLIT-ROBO Rho GTPase-activating protein 2C 459 53.5 1 0 0 0 1 5 2012-07-11 P0DP91 ERPG3_HUMAN ERCC6 Chimeric ERCC6-PGBD3 protein 1061 119.5 10 Nucleus 0 1 Premature ovarian failure 11 0 1 5 2017-09-27 P0DTE7 AMY1B_HUMAN AMY1B Alpha-amylase 1B 511 57.8 1 3.2.1.1 Secreted 0 0 0 1 5 2020-10-07 P10070 GLI2_HUMAN GLI2 Transcription activator GLI2 1586 167.8 2 Nucleus; Cytoplasm; Cell projection 0 2 Holoprosencephaly 9; Culler-Jones syndrome 0 1 5 1989-07-01 P10073 ZSC22_HUMAN ZSCAN22 Zinc finger and SCAN domain-containing protein 22 491 54.6 19 Nucleus 0 0 0 1 5 1989-07-01 P10163 PRB4_HUMAN PRB4 Basic salivary proline-rich protein 4 310 31.3 Secreted 0 0 0 1 5 1986-07-21 P10242 MYB_HUMAN MYB Transcriptional activator Myb 640 72.3 6 Nucleus 0 0 0 1 5 1989-07-01 P11117 PPAL_HUMAN ACP2 Lysosomal acid phosphatase 423 48.3 11 3.1.3.2 Lysosome membrane; Lysosome lumen 1 0 0 1 5 1989-07-01 P11150 LIPC_HUMAN LIPC Hepatic triacylglycerol lipase 499 55.9 15 3.1.1.3 Secreted 0 1 Hepatic lipase deficiency 0 1 5 1989-07-01 P11168 GTR2_HUMAN SLC2A2 Solute carrier family 2, facilitated glucose transporter member 2 524 57.5 3 Cell membrane 12 1 Fanconi-Bickel syndrome 0 1 5 1989-07-01 P12644 BMP4_HUMAN BMP4 Bone morphogenetic protein 4 408 46.6 14 Secreted 0 2 Microphthalmia, syndromic, 6; Non-syndromic orofacial cleft 11 0 1 5 1989-10-01 P12829 MYL4_HUMAN MYL4 Myosin light chain 4 197 21.6 17 0 1 Atrial fibrillation, familial, 18 0 1 5 1989-10-01 P12882 MYH1_HUMAN MYH1 Myosin-1 1939 223.1 17 Cytoplasm 0 0 0 1 5 1989-10-01 P13196 HEM1_HUMAN ALAS1 5-aminolevulinate synthase, non-specific, mitochondrial 640 70.6 3 2.3.1.37 Mitochondrion inner membrane 0 0 0 1 5 1990-01-01 P13521 SCG2_HUMAN SCG2 Secretogranin-2 617 70.9 2 Secreted 0 0 0 1 5 1990-01-01 P13533 MYH6_HUMAN MYH6 Myosin-6 1939 223.7 14 Cytoplasm 0 4 Atrial septal defect 3; Cardiomyopathy, familial hypertrophic, 14; Cardiomyopathy, dilated, 1EE; Sick sinus syndrome 3 0 1 5 1990-01-01 P13535 MYH8_HUMAN MYH8 Myosin-8 1937 222.8 17 Cytoplasm 0 2 Carney complex variant; Arthrogryposis, distal, 7 0 1 5 1990-01-01 P13762 DRB4_HUMAN HLA-DRB4 HLA class II histocompatibility antigen, DR beta 4 chain 266 29.9 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus; Endosome membrane; Lysosome membrane; Late endosome membrane 1 0 0 1 5 1990-01-01 P13805 TNNT1_HUMAN TNNT1 Troponin T, slow skeletal muscle 278 32.9 19 0 3 Nemaline myopathy 5A, autosomal recessive, severe infantile; Nemaline myopathy 5B, autosomal recessive, childhood-onset; Nemaline myopathy 5C, autosomal dominant 0 1 5 1990-11-01 P14543 NID1_HUMAN NID1 Nidogen-1 1247 136.4 1 Secreted 0 0 0 1 5 1990-01-01 P15502 ELN_HUMAN ELN Elastin 786 68.4 7 Secreted 0 2 Cutis laxa, autosomal dominant, 1; Supravalvular aortic stenosis 0 1 5 1990-04-01 P15622 ZN250_HUMAN ZNF250 Zinc finger protein 250 560 63.5 8 Nucleus 0 0 0 1 5 1990-04-01 P16499 PDE6A_HUMAN PDE6A Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha 860 99.5 5 3.1.4.35 Photoreceptor outer segment membrane; Cell membrane 0 1 Retinitis pigmentosa 43 0 1 5 1990-08-01 P16930 FAAA_HUMAN FAH Fumarylacetoacetase 419 46.4 15 3.7.1.2 0 1 Tyrosinemia 1 0 1 5 1990-08-01 P16949 STMN1_HUMAN STMN1 Stathmin 149 17.3 1 Cytoplasm 0 0 0 1 5 1990-08-01 P17010 ZFX_HUMAN ZFX Zinc finger X-chromosomal protein 805 90.5 X Nucleus 0 1 Intellectual developmental disorder, X-linked, syndromic 37 0 1 5 1990-08-01 P17020 ZNF16_HUMAN ZNF16 Zinc finger protein 16 682 76.5 8 Nucleus 0 0 0 1 5 1990-08-01 P17030 ZNF25_HUMAN ZNF25 Zinc finger protein 25 456 53.5 10 Nucleus 0 0 0 1 5 1990-08-01 P17658 KCNA6_HUMAN KCNA6 Potassium voltage-gated channel subfamily A member 6 529 58.7 12 Cell membrane 6 0 0 1 5 1990-08-01 P18405 S5A1_HUMAN SRD5A1 3-oxo-5-alpha-steroid 4-dehydrogenase 1 259 29.5 5 1.3.1.22 Microsome membrane; Endoplasmic reticulum membrane 5 0 0 1 5 1990-11-01 P19012 K1C15_HUMAN KRT15 Keratin, type I cytoskeletal 15 456 49.2 17 Cytoplasm 0 0 0 1 5 1990-11-01 P20810 ICAL_HUMAN CAST Calpastatin 708 76.6 5 0 1 Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 0 1 5 1991-02-01 P20848 A1ATR_HUMAN SERPINA2 Alpha-1-antitrypsin-related protein 421 47.7 Endoplasmic reticulum 0 0 0 1 5 1991-02-01 P20853 CP2A7_HUMAN CYP2A7 Cytochrome P450 2A7 494 56.4 19 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 0 1 5 1991-02-01 P20941 PHOS_HUMAN PDC Phosducin 246 28.2 1 Cytoplasm; Nucleus; Cell projection; Photoreceptor inner segment 0 0 0 1 5 1991-02-01 P21217 FUT3_HUMAN FUT3 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT3 361 42.1 19 2.4.1.65 Golgi apparatus 1 0 0 1 5 1991-05-01 P21810 PGS1_HUMAN BGN Biglycan 368 41.7 X Secreted 0 2 Meester-Loeys syndrome; Spondyloepimetaphyseal dysplasia, X-linked 0 1 5 1991-05-01 P22459 KCNA4_HUMAN KCNA4 Potassium voltage-gated channel subfamily A member 4 653 73.3 11 Cell membrane; Cell projection 6 1 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 0 1 5 1991-08-01 P22528 SPR1B_HUMAN SPRR1B Cornifin-B 89 9.9 1 Cytoplasm 0 0 0 1 5 1991-08-01 P22694 KAPCB_HUMAN PRKACB cAMP-dependent protein kinase catalytic subunit beta 351 40.6 1 2.7.11.11 Cytoplasm; Cell membrane; Membrane; Nucleus 0 1 Cardioacrofacial dysplasia 2 0 1 5 1991-08-01 P22760 AAAD_HUMAN AADAC Deacylase AADAC 399 45.7 3 3.-.-.- Endoplasmic reticulum membrane; Microsome membrane 1 0 0 1 5 1991-08-01 P22792 CPN2_HUMAN CPN2 Carboxypeptidase N subunit 2 545 60.6 3 Secreted 0 0 0 1 5 1991-08-01 P23109 AMPD1_HUMAN AMPD1 AMP deaminase 1 747 86.5 1 3.5.4.6 0 1 Myopathy due to myoadenylate deaminase deficiency 0 1 5 1991-11-01 P23490 LORI_HUMAN LORICRIN Loricrin 312 25.8 1 Cytoplasm; Nucleus 0 1 Vohwinkel syndrome with ichthyosis 0 1 5 1991-11-01 P24001 IL32_HUMAN IL32 Interleukin-32 234 26.7 16 Secreted 0 0 0 1 5 1992-03-01 P24298 ALAT1_HUMAN GPT Alanine aminotransferase 1 496 54.6 8 2.6.1.2 Cytoplasm 0 0 0 1 5 1992-03-01 P24844 MYL9_HUMAN MYL9 Myosin regulatory light polypeptide 9 172 19.8 20 Cytoplasm 0 1 Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 0 1 5 1992-03-01 P26436 ASPX_HUMAN ACRV1 Acrosomal protein SP-10 265 28.2 11 Cytoplasmic vesicle 0 0 0 1 5 1992-08-01 P27816 MAP4_HUMAN MAP4 Microtubule-associated protein 4 1152 121 3 Cytoplasm 0 0 0 1 5 1992-08-01 P27987 IP3KB_HUMAN ITPKB Inositol-trisphosphate 3-kinase B 946 102.4 1 2.7.1.127 Cytoplasm; Endoplasmic reticulum 0 0 0 1 5 1992-08-01 P28332 ADH6_HUMAN ADH6 Alcohol dehydrogenase 6 368 39.1 4 1.1.1.1 Cytoplasm 0 0 0 1 5 1992-12-01 P28358 HXD10_HUMAN HOXD10 Homeobox protein Hox-D10 340 38.4 2 Nucleus 0 1 Vertical talus, congenital 0 1 5 1992-12-01 P28906 CD34_HUMAN CD34 Hematopoietic progenitor cell antigen CD34 385 40.7 1 Membrane 1 0 0 1 5 1992-12-01 P29144 TPP2_HUMAN TPP2 Tripeptidyl-peptidase 2 1249 138.4 13 3.4.14.10 Cytoplasm; Nucleus 0 1 Immunodeficiency 78 with autoimmunity and developmental delay 0 1 5 1992-12-01 P31150 GDIA_HUMAN GDI1 Rab GDP dissociation inhibitor alpha 447 50.6 X Cytoplasm; Golgi apparatus 0 1 Intellectual developmental disorder, X-linked 41 0 1 5 1993-07-01 P31260 HXA10_HUMAN HOXA10 Homeobox protein Hox-A10 410 42.4 7 Nucleus 0 0 0 1 5 1993-07-01 P31268 HXA7_HUMAN HOXA7 Homeobox protein Hox-A7 230 25.4 7 Nucleus 0 0 0 1 5 1993-07-01 P31314 TLX1_HUMAN TLX1 T-cell leukemia homeobox protein 1 330 34.4 10 Nucleus 0 0 0 1 5 1993-07-01 P31942 HNRH3_HUMAN HNRNPH3 Heterogeneous nuclear ribonucleoprotein H3 346 36.9 10 Nucleus 0 0 0 1 5 1993-07-01 P32971 TNFL8_HUMAN TNFSF8 Tumor necrosis factor ligand superfamily member 8 234 26 9 Membrane 1 0 0 1 5 1993-10-01 P33151 CADH5_HUMAN CDH5 Cadherin-5 784 87.5 16 Cell junction; Cell membrane; Cytoplasm 1 0 0 1 5 1993-10-01 P35125 UBP6_HUMAN USP6 Ubiquitin carboxyl-terminal hydrolase 6 1406 158.7 17 3.4.19.12 Cell membrane; Cytoplasm; Endosome 0 0 0 1 5 1994-02-01 P35453 HXD13_HUMAN HOXD13 Homeobox protein Hox-D13 343 36.1 2 Nucleus 0 7 Synpolydactyly 1; Brachydactyly D; Syndactyly 5; Brachydactyly-syndactyly syndrome; Brachydactyly E1; VACTERL association; Brachydactyly-syndactyly-oligodactyly syndrome 0 1 5 1994-06-01 P35504 UD15_HUMAN UGT1A5 UDP-glucuronosyltransferase 1A5 534 60.1 2 2.4.1.17 Endoplasmic reticulum membrane 1 0 0 1 5 1994-06-01 P35908 K22E_HUMAN KRT2 Keratin, type II cytoskeletal 2 epidermal 639 65.4 12 Cytoplasm 0 1 Ichthyosis bullosa of Siemens 0 1 5 1994-06-01 P36402 TCF7_HUMAN TCF7 Transcription factor 7 384 41.6 5 Nucleus 0 0 0 1 5 1994-06-01 P36405 ARL3_HUMAN ARL3 ADP-ribosylation factor-like protein 3 182 20.5 10 Golgi apparatus membrane; Cytoplasm; Nucleus; Cell projection 0 2 Joubert syndrome 35; Retinitis pigmentosa 83 0 1 5 1994-06-01 P38432 COIL_HUMAN COIL Coilin 576 62.6 17 Nucleus 0 0 0 1 5 1994-10-01 P39210 MPV17_HUMAN MPV17 Mitochondrial inner membrane protein Mpv17 176 19.7 2 Mitochondrion inner membrane 4 2 Mitochondrial DNA depletion syndrome 6; Charcot-Marie-Tooth disease, axonal, type 2EE 0 1 5 1995-02-01 P40197 GPV_HUMAN GP5 Platelet glycoprotein V 560 61 3 Membrane 1 0 0 1 5 1995-02-01 P40617 ARL4A_HUMAN ARL4A ADP-ribosylation factor-like protein 4A 200 22.6 7 Cell membrane; Cytoplasm; Nucleus 0 0 0 1 5 1995-02-01 P42357 HUTH_HUMAN HAL Histidine ammonia-lyase 657 72.7 12 4.3.1.3 0 1 Histidinemia 0 1 5 1995-11-01 P42694 HELZ_HUMAN HELZ ATP-dependent RNA helicase with zinc finger domain 1942 219 17 3.6.4.13 Nucleus; Cytoplasm 0 0 0 1 5 1995-11-01 P43243 MATR3_HUMAN MATR3 Matrin-3 847 94.6 5 Nucleus matrix 0 1 Amyotrophic lateral sclerosis 21 0 1 5 1995-11-01 P43353 AL3B1_HUMAN ALDH3B1 Aldehyde dehydrogenase family 3 member B1 468 51.8 11 1.2.1.28, 1.2.1.5, 1.2.1.7 Cell membrane 0 0 0 1 5 1995-11-01 P43356 MAGA2_HUMAN MAGEA2 Melanoma-associated antigen 2 314 35.1 X Nucleus 0 0 0 1 5 1995-11-01 P46019 KPB2_HUMAN PHKA2 Phosphorylase b kinase regulatory subunit alpha, liver isoform 1235 138.4 X Cell membrane 0 1 Glycogen storage disease 9A 0 1 5 1995-11-01 P46439 GSTM5_HUMAN GSTM5 Glutathione S-transferase Mu 5 218 25.7 1 2.5.1.18 Cytoplasm 0 0 0 1 5 1995-11-01 P47804 RGR_HUMAN RGR RPE-retinal G protein-coupled receptor 291 31.9 10 Membrane 7 1 Retinitis pigmentosa 44 0 1 5 1996-02-01 P47928 ID4_HUMAN ID4 DNA-binding protein inhibitor ID-4 161 16.6 6 Nucleus 0 0 0 1 5 1996-02-01 P48146 NPBW2_HUMAN NPBWR2 Neuropeptides B/W receptor type 2 333 36.9 20 Cell membrane 7 0 0 1 5 1996-02-01 P48739 PIPNB_HUMAN PITPNB Phosphatidylinositol transfer protein beta isoform 271 31.5 22 Cytoplasm; Golgi apparatus membrane; Endoplasmic reticulum membrane; Golgi apparatus 0 0 0 1 5 1996-02-01 P48745 CCN3_HUMAN CCN3 CCN family member 3 357 39.2 8 Secreted; Cytoplasm; Cell junction 0 0 0 1 5 1996-02-01 P49447 CY561_HUMAN CYB561 Transmembrane ascorbate-dependent reductase CYB561 251 27.6 17 7.2.1.3 Cytoplasmic vesicle 6 1 Orthostatic hypotension 2 0 1 5 1996-02-01 P49585 PCY1A_HUMAN PCYT1A Choline-phosphate cytidylyltransferase A 367 41.7 3 2.7.7.15 Cytoplasm; Membrane; Endoplasmic reticulum membrane; Nucleus 0 2 Spondylometaphyseal dysplasia with cone-rod dystrophy; Lipodystrophy, congenital generalized, 5 0 1 5 1996-02-01 P49755 TMEDA_HUMAN TMED10 Transmembrane emp24 domain-containing protein 10 219 25 14 Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus membrane; Golgi apparatus; Cytoplasmic vesicle; Cell membrane; Melanosome 1 0 0 1 5 1996-10-01 P49788 TIG1_HUMAN RARRES1 Retinoic acid receptor responder protein 1 294 33.3 3 Membrane; Secreted 1 0 0 1 5 1996-10-01 P49798 RGS4_HUMAN RGS4 Regulator of G protein signaling 4 205 23.3 1 0 1 Schizophrenia 0 1 5 1996-10-01 P50238 CRIP1_HUMAN CRIP1 Cysteine-rich protein 1 77 8.5 14 0 0 0 1 5 1996-10-01 P50395 GDIB_HUMAN GDI2 Rab GDP dissociation inhibitor beta 445 50.7 10 Cytoplasm; Membrane; Golgi apparatus 0 0 0 1 5 1996-10-01 P50454 SERPH_HUMAN SERPINH1 Serpin H1 418 46.4 11 Endoplasmic reticulum lumen 0 1 Osteogenesis imperfecta 10 0 1 5 1996-10-01 P51153 RAB13_HUMAN RAB13 Ras-related protein Rab-13 203 22.8 1 3.6.5.2 Cell membrane; Cytoplasmic vesicle membrane; Cell junction; Golgi apparatus; Recycling endosome membrane; Cell projection 0 0 0 1 5 1996-10-01 P51606 RENBP_HUMAN RENBP N-acylglucosamine 2-epimerase 427 48.8 X 5.1.3.8 0 0 0 1 5 1996-10-01 P51841 GUC2F_HUMAN GUCY2F Retinal guanylyl cyclase 2 1108 124.9 X 4.6.1.2 Photoreceptor outer segment membrane 1 0 0 1 5 1996-10-01 P51878 CASP5_HUMAN CASP5 Caspase-5 434 49.7 11 3.4.22.58 0 0 0 1 5 1996-10-01 P52569 CTR2_HUMAN SLC7A2 Cationic amino acid transporter 2 658 71.7 8 Cell membrane 14 0 0 1 5 1996-10-01 P52736 ZN133_HUMAN ZNF133 Zinc finger protein 133 654 73.4 20 Nucleus 0 0 0 1 5 1996-10-01 P53708 ITA8_HUMAN ITGA8 Integrin alpha-8 1063 117.5 10 Membrane; Cell membrane 1 1 Renal hypodysplasia/aplasia 1 0 1 5 1996-10-01 P53801 PTTG_HUMAN PTTG1IP Pituitary tumor-transforming gene 1 protein-interacting protein 180 20.3 21 Membrane; Cytoplasm; Nucleus 1 0 0 1 5 1996-10-01 P54803 GALC_HUMAN GALC Galactocerebrosidase 685 77.1 14 3.2.1.46 Lysosome 0 1 Krabbe disease 0 1 5 1996-10-01 P54852 EMP3_HUMAN EMP3 Epithelial membrane protein 3 163 18.4 19 Membrane 4 0 0 1 5 1996-10-01 P55039 DRG2_HUMAN DRG2 Developmentally-regulated GTP-binding protein 2 364 40.7 17 Nucleus; Cytoplasm 0 0 0 1 5 1996-10-01 P55056 APOC4_HUMAN APOC4 Apolipoprotein C-IV 127 14.6 19 Secreted 0 0 0 1 5 1996-10-01 P55061 BI1_HUMAN TMBIM6 Bax inhibitor 1 237 26.5 12 Endoplasmic reticulum membrane 6 0 0 1 5 1996-10-01 P55107 GDF10_HUMAN GDF10 Growth/differentiation factor 10 478 53.1 10 Secreted 0 0 0 1 5 1996-10-01 P55291 CAD15_HUMAN CDH15 Cadherin-15 814 88.9 16 Cell membrane 1 1 Intellectual developmental disorder, autosomal dominant 3 0 1 5 1996-10-01 P55851 UCP2_HUMAN UCP2 Dicarboxylate carrier SLC25A8 309 33.2 11 Mitochondrion inner membrane 6 0 0 1 5 1997-11-01 P56202 CATW_HUMAN CTSW Cathepsin W 376 42.1 11 3.4.22.- Endoplasmic reticulum 0 0 0 1 5 1997-11-01 P56705 WNT4_HUMAN WNT4 Protein Wnt-4 351 39.1 1 Secreted 0 2 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs; Mullerian aplasia and hyperandrogenism 0 1 5 1999-07-15 P56706 WNT7B_HUMAN WNT7B Protein Wnt-7b 349 39.3 22 Secreted 0 0 0 1 5 1999-07-15 P56750 CLD17_HUMAN CLDN17 Claudin-17 224 24.6 21 Cell junction; Basolateral cell membrane 4 0 0 1 5 2000-05-30 P56856 CLD18_HUMAN CLDN18 Claudin-18 261 27.9 3 Cell junction; Cell membrane 4 0 0 1 5 2000-05-30 P56937 DHB7_HUMAN HSD17B7 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 341 38.2 1 Endoplasmic reticulum membrane 1 0 0 1 5 2000-05-30 P57055 DSCR6_HUMAN RIPPLY3 Protein ripply3 190 20.4 21 Nucleus 0 0 0 1 5 2000-12-01 P57103 NAC3_HUMAN SLC8A3 Sodium/calcium exchanger 3 927 103 14 Cell membrane; Perikaryon; Cell projection; Cytoplasm; Cell junction; Mitochondrion outer membrane; Endoplasmic reticulum membrane 11 0 0 1 5 2000-12-01 P57738 TCTA_HUMAN TCTA T-cell leukemia translocation-altered gene protein 103 11.3 3 Membrane 2 0 0 1 5 2001-01-11 P59901 LIRA4_HUMAN LILRA4 Leukocyte immunoglobulin-like receptor subfamily A member 4 499 55.2 19 Cell membrane 1 0 0 1 5 2003-10-03 P59942 MCCD1_HUMAN MCCD1 Mitochondrial coiled-coil domain protein 1 119 13.3 6 Mitochondrion 0 0 0 1 5 2003-10-31 P60321 NANO2_HUMAN NANOS2 Nanos homolog 2 138 15.1 19 Cytoplasm 0 0 0 1 5 2004-02-02 P60323 NANO3_HUMAN NANOS3 Nanos homolog 3 173 18.8 19 Nucleus; Cytoplasm 0 0 0 1 5 2004-02-02 P60329 KR124_HUMAN KRTAP12-4 Keratin-associated protein 12-4 112 11.4 21 0 0 0 1 5 2004-02-02 P60409 KR107_HUMAN KRTAP10-7 Keratin-associated protein 10-7 370 37.4 21 0 0 0 1 5 2004-02-16 P61296 HAND2_HUMAN HAND2 Heart- and neural crest derivatives-expressed protein 2 217 23.7 4 Nucleus 0 0 0 1 5 2004-05-10 P61371 ISL1_HUMAN ISL1 Insulin gene enhancer protein ISL-1 349 39 5 Nucleus 0 0 0 1 5 2004-05-24 P62140 PP1B_HUMAN PPP1CB Serine/threonine-protein phosphatase PP1-beta catalytic subunit 327 37.2 2 3.1.3.16, 3.1.3.53 Cytoplasm; Nucleus 0 1 Noonan syndrome-like disorder with loose anagen hair 2 0 1 5 2004-06-21 P62324 BTG1_HUMAN BTG1 Protein BTG1 171 19.2 12 0 0 0 1 5 2004-07-05 P62380 TBPL1_HUMAN TBPL1 TATA box-binding protein-like 1 186 20.9 6 Cytoplasm; Nucleus 0 0 0 1 5 2004-07-05 P62714 PP2AB_HUMAN PPP2CB Serine/threonine-protein phosphatase 2A catalytic subunit beta isoform 309 35.6 8 3.1.3.16 Cytoplasm; Nucleus; Chromosome 0 0 0 1 5 2004-07-19 P62736 ACTA_HUMAN ACTA2 Actin, aortic smooth muscle 377 42 10 3.6.4.- Cytoplasm 0 3 Aortic aneurysm, familial thoracic 6; Moyamoya disease 5; Smooth muscle dysfunction syndrome 0 1 5 1986-10-23 P68366 TBA4A_HUMAN TUBA4A Tubulin alpha-4A chain 448 49.9 2 3.6.5.- Cytoplasm 0 4 Frontotemporal dementia and/or amyotrophic lateral sclerosis 9; Congenital myopathy 26; Spastic ataxia 11, autosomal dominant; Oocyte/zygote/embryo maturation arrest 23 0 1 5 1987-08-13 P78333 GPC5_HUMAN GPC5 Glypican-5 572 63.7 13 Cell membrane 0 0 0 1 5 1997-11-01 P78334 GBRE_HUMAN GABRE Gamma-aminobutyric acid receptor subunit epsilon 506 58 X Cell membrane; Postsynaptic cell membrane 4 0 0 1 5 1999-07-15 P78337 PITX1_HUMAN PITX1 Pituitary homeobox 1 314 34.1 5 Nucleus 0 2 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly; Liebenberg syndrome 0 1 5 1998-07-15 P78385 KRT83_HUMAN KRT83 Keratin, type II cuticular Hb3 493 54.2 12 0 2 Erythrokeratodermia variabilis et progressiva 5; Monilethrix 3 0 1 5 2004-03-29 P78386 KRT85_HUMAN KRT85 Keratin, type II cuticular Hb5 507 55.8 12 0 1 Ectodermal dysplasia 4, hair/nail type 0 1 5 2004-03-29 P78395 PRAME_HUMAN PRAME Melanoma antigen preferentially expressed in tumors 509 57.9 22 Nucleus; Chromosome; Cytoplasm; Golgi apparatus; Cell membrane 0 0 0 1 5 2000-05-30 P78537 BL1S1_HUMAN BLOC1S1 Biogenesis of lysosome-related organelles complex 1 subunit 1 153 17.3 12 Mitochondrion intermembrane space; Mitochondrion matrix; Cytoplasm; Lysosome membrane 0 0 0 1 5 1998-07-15 P81408 EREP3_HUMAN ENTREP3 Protein ENTREP3 668 71.4 1 Membrane 4 0 0 1 5 2000-05-30 P83105 HTRA4_HUMAN HTRA4 Serine protease HTRA4 476 51 8 3.4.21.- Secreted 0 0 0 1 5 2001-11-16 P84550 SKOR1_HUMAN SKOR1 SKI family transcriptional corepressor 1 965 99.8 15 Nucleus 0 0 0 1 5 2005-06-21 P98077 SHC2_HUMAN SHC2 SHC-transforming protein 2 582 61.9 19 0 0 0 1 5 1996-02-01 P98095 FBLN2_HUMAN FBLN2 Fibulin-2 1184 126.6 3 Secreted 0 0 0 1 5 1995-11-01 Q00444 HXC5_HUMAN HOXC5 Homeobox protein Hox-C5 222 25 12 Nucleus 0 0 0 1 5 1993-04-01 Q00839 HNRPU_HUMAN HNRNPU Heterogeneous nuclear ribonucleoprotein U 825 90.6 1 Nucleus; Nucleus matrix; Chromosome; Nucleus speckle; Cytoplasm; Midbody; Cell surface; Cytoplasmic granule 0 1 Developmental and epileptic encephalopathy 54 0 1 5 1993-04-01 Q00889 PSG6_HUMAN PSG6 Pregnancy-specific beta-1-glycoprotein 6 435 48.8 19 Secreted 0 0 0 1 5 1996-10-01 Q01453 PMP22_HUMAN PMP22 Peripheral myelin protein 22 160 17.9 17 Cell membrane 4 5 Charcot-Marie-Tooth disease, demyelinating, type 1A; Dejerine-Sottas syndrome; Hereditary neuropathy with liability to pressure palsies; Charcot-Marie-Tooth disease, demyelinating, type 1E; Inflammatory demyelinating polyneuropathy 0 1 5 1993-04-01 Q01546 K22O_HUMAN KRT76 Keratin, type II cytoskeletal 2 oral 638 65.8 12 0 0 0 1 5 1994-06-01 Q01804 OTUD4_HUMAN OTUD4 OTU domain-containing protein 4 1114 124 4 3.4.19.12 Cytoplasm; Nucleus 0 0 0 1 5 1994-06-01 Q01851 PO4F1_HUMAN POU4F1 POU domain, class 4, transcription factor 1 419 42.7 13 Nucleus; Cytoplasm 0 1 Ataxia, intention tremor, and hypotonia syndrome, childhood-onset 0 1 5 1993-07-01 Q02383 SEMG2_HUMAN SEMG2 Semenogelin-2 582 65.4 20 Secreted 0 0 0 1 5 1993-07-01 Q02447 SP3_HUMAN SP3 Transcription factor Sp3 781 81.9 2 Nucleus 0 0 0 1 5 1995-02-01 Q02505 MUC3A_HUMAN MUC3A Mucin-3A 3323 345.1 7 Membrane 1 0 0 1 5 1994-06-01 Q02846 GUC2D_HUMAN GUCY2D Retinal guanylyl cyclase 1 1103 120.1 17 4.6.1.2 Photoreceptor outer segment membrane; Endoplasmic reticulum membrane 1 4 Leber congenital amaurosis 1; Cone-rod dystrophy 6; Choroidal dystrophy, central areolar, 1; Night blindness, congenital stationary, 1I 0 1 5 1993-07-01 Q04864 REL_HUMAN REL Proto-oncogene c-Rel 619 68.5 2 Nucleus 0 1 Immunodeficiency 92 0 1 5 1994-06-01 Q04900 MUC24_HUMAN CD164 Sialomucin core protein 24 197 20.9 6 Lysosome membrane; Endosome membrane; Cell membrane 1 1 Deafness, autosomal dominant, 66 0 1 5 1994-06-01 Q05481 ZNF91_HUMAN ZNF91 Zinc finger protein 91 1191 137.2 19 Nucleus 0 0 0 1 5 1994-06-01 Q05513 KPCZ_HUMAN PRKCZ Protein kinase C zeta type 592 67.7 1 2.7.11.13 Cytoplasm; Endosome; Cell junction; Membrane 0 0 0 1 5 1994-02-01 Q05707 COEA1_HUMAN COL14A1 Collagen alpha-1(XIV) chain 1796 193.5 8 Secreted 0 0 0 1 5 2005-02-01 Q05925 HME1_HUMAN EN1 Homeobox protein engrailed-1 392 40.1 2 Nucleus 0 2 ENDOVE syndrome, limb-only type; ENDOVE syndrome, limb-brain type 0 1 5 1994-02-01 Q06136 KDSR_HUMAN KDSR 3-ketodihydrosphingosine reductase 332 36.2 18 1.1.1.102 Endoplasmic reticulum membrane 2 1 Erythrokeratodermia variabilis et progressiva 4 0 1 5 1994-06-01 Q06416 P5F1B_HUMAN POU5F1B POU domain, class 5, transcription factor 1B 359 38.6 8 Nucleus; Cytoplasm 0 0 0 1 5 2003-02-01 Q07092 COGA1_HUMAN COL16A1 Collagen alpha-1(XVI) chain 1604 157.8 1 Secreted 0 0 0 1 5 1995-02-01 Q08117 TLE5_HUMAN TLE5 TLE family member 5 197 22 19 Nucleus 0 0 0 1 5 1995-02-01 Q08357 S20A2_HUMAN SLC20A2 Sodium-dependent phosphate transporter 2 652 70.4 8 Cell membrane; Apical cell membrane 12 1 Basal ganglia calcification, idiopathic, 1 0 1 5 2008-06-10 Q08378 GOGA3_HUMAN GOLGA3 Golgin subfamily A member 3 1498 167.4 12 Cytoplasm; Golgi apparatus 0 0 0 1 5 1997-11-01 Q08462 ADCY2_HUMAN ADCY2 Adenylate cyclase type 2 1091 123.6 5 4.6.1.1 Membrane; Cell membrane; Cytoplasm 12 0 0 1 5 1994-10-01 Q09470 KCNA1_HUMAN KCNA1 Potassium voltage-gated channel subfamily A member 1 495 56.5 12 Cell membrane; Membrane; Cell projection; Cytoplasmic vesicle; Perikaryon; Endoplasmic reticulum; Cell junction; Synapse; Presynaptic cell membrane; Presynapse 6 2 Episodic ataxia 1; Myokymia isolated 1 0 1 5 1995-11-01 Q0D2H9 GOG8D_HUMAN GOLGA8DP Putative golgin subfamily A member 8D 430 48.4 0 0 0 5 5 2008-01-15 Q0VD83 APOBR_HUMAN APOBR Apolipoprotein B receptor 1097 115.6 16 Cell membrane 0 0 0 1 5 2008-04-08 Q0VF96 CGNL1_HUMAN CGNL1 Cingulin-like protein 1 1302 149.1 15 Cell junction 0 1 Aromatase excess syndrome 0 1 5 2007-12-04 Q11130 FUT7_HUMAN FUT7 Alpha-(1,3)-fucosyltransferase 7 342 39.2 9 2.4.1.- Golgi apparatus 1 0 0 1 5 1996-10-01 Q11206 SIA4C_HUMAN ST3GAL4 CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 333 38 11 2.4.3.2, 2.4.3.4 Golgi apparatus; Secreted 1 0 0 1 5 1996-10-01 Q12765 SCRN1_HUMAN SCRN1 Secernin-1 414 46.4 7 Cytoplasm 0 0 0 1 5 1997-11-01 Q12829 RB40B_HUMAN RAB40B Ras-related protein Rab-40B 278 31 17 3.6.5.2 Cell membrane; Cytoplasm; Cell projection 0 0 0 1 5 2003-01-10 Q12846 STX4_HUMAN STX4 Syntaxin-4 297 34.2 16 Cell membrane; Cell projection; Cytoplasm 1 1 Deafness, autosomal recessive, 123 0 1 5 1997-11-01 Q12873 CHD3_HUMAN CHD3 ATP-dependent chromatin remodeler CHD3 2000 226.6 17 3.6.4.- Nucleus; Cytoplasm 0 1 Snijders Blok-Campeau syndrome 0 1 5 1999-07-15 Q12908 NTCP2_HUMAN SLC10A2 Ileal sodium/bile acid cotransporter 348 37.7 13 Membrane 7 1 Bile acid malabsorption, primary, 1 0 1 5 1997-11-01 Q12981 SEC20_HUMAN BNIP1 Vesicle transport protein SEC20 228 26.1 5 Endoplasmic reticulum membrane; Mitochondrion membrane 1 1 Spondyloepiphyseal dysplasia, Holling type 0 1 5 1999-07-15 Q13099 IFT88_HUMAN IFT88 Intraflagellar transport protein 88 homolog 824 93.2 13 Cytoplasm; Cell projection 0 0 0 1 5 2001-09-26 Q13129 RLF_HUMAN RLF Zinc finger protein Rlf 1914 218 1 Nucleus 0 0 0 1 5 2002-10-10 Q13151 ROA0_HUMAN HNRNPA0 Heterogeneous nuclear ribonucleoprotein A0 305 30.8 5 Nucleus 0 0 0 1 5 2000-05-30 Q13207 TBX2_HUMAN TBX2 T-box transcription factor TBX2 712 75.1 17 Nucleus 0 1 Vertebral anomalies and variable endocrine and T-cell dysfunction 0 1 5 1997-11-01 Q13214 SEM3B_HUMAN SEMA3B Semaphorin-3B 749 83.1 3 Secreted; Endoplasmic reticulum 0 0 0 1 5 2000-05-30 Q13242 SRSF9_HUMAN SRSF9 Serine/arginine-rich splicing factor 9 221 25.5 12 Nucleus 0 0 0 1 5 1998-12-15 Q13243 SRSF5_HUMAN SRSF5 Serine/arginine-rich splicing factor 5 272 31.3 14 Nucleus 0 0 0 1 5 1998-12-15 Q13286 CLN3_HUMAN CLN3 Battenin 438 47.6 16 Lysosome membrane; Late endosome; Lysosome; Golgi apparatus; Golgi apparatus membrane; Cell membrane; Recycling endosome; Membrane raft; Membrane; Early endosome membrane; Synapse; Late endosome membrane; Cytoplasmic vesicle 6 2 Ceroid lipofuscinosis, neuronal, 3; Retinitis pigmentosa 101 0 1 5 1997-11-01 Q13310 PABP4_HUMAN PABPC4 Polyadenylate-binding protein 4 644 70.8 1 Cytoplasm 0 0 0 1 5 2000-12-01 Q13316 DMP1_HUMAN DMP1 Dentin matrix acidic phosphoprotein 1 513 55.8 4 Nucleus; Cytoplasm; Secreted 0 1 Hypophosphatemic rickets, autosomal recessive, 1 0 1 5 2000-05-30 Q13323 BIK_HUMAN BIK Bcl-2-interacting killer 160 18 22 Endomembrane system; Mitochondrion membrane 1 0 0 1 5 1997-11-01 Q13349 ITAD_HUMAN ITGAD Integrin alpha-D 1161 126.8 16 Cell membrane 1 0 0 1 5 2000-12-01 Q13360 ZN177_HUMAN ZNF177 Zinc finger protein 177 481 54.8 19 Nucleus 0 0 0 1 5 1997-11-01 Q13367 AP3B2_HUMAN AP3B2 AP-3 complex subunit beta-2 1082 119.1 15 Cytoplasmic vesicle; Golgi apparatus 0 1 Developmental and epileptic encephalopathy 48 0 1 5 2001-09-26 Q13424 SNTA1_HUMAN SNTA1 Alpha-1-syntrophin 505 53.9 20 Cell membrane; Cell junction; Cytoplasm 0 1 Long QT syndrome 12 0 1 5 2002-10-10 Q13444 ADA15_HUMAN ADAM15 Disintegrin and metalloproteinase domain-containing protein 15 863 93 1 3.4.24.- Endomembrane system; Cell junction; Cell projection; Cytoplasmic vesicle 1 0 0 1 5 2001-06-01 Q13461 FOXE3_HUMAN FOXE3 Forkhead box protein E3 319 33.2 1 Nucleus 0 3 Anterior segment dysgenesis 2; Cataract 34, multiple types; Aortic aneurysm, familial thoracic 11 0 1 5 1997-11-01 Q13495 MAMD1_HUMAN MAMLD1 Mastermind-like domain-containing protein 1 774 83.2 X Nucleus 0 1 Hypospadias 2, X-linked 0 1 5 1997-11-01 Q13505 MTX1_HUMAN MTX1 Metaxin-1 466 51.5 1 Membrane; Mitochondrion outer membrane 1 0 0 1 5 1998-07-15 Q13520 AQP6_HUMAN AQP6 Aquaporin-6 282 29.4 12 Cytoplasmic vesicle membrane 6 0 0 1 5 1997-11-01 Q13595 TRA2A_HUMAN TRA2A Transformer-2 protein homolog alpha 282 32.7 7 Nucleus 0 0 0 1 5 1998-12-15 Q13610 PWP1_HUMAN PWP1 Periodic tryptophan protein 1 homolog 501 55.8 12 Nucleus; Chromosome 0 0 0 1 5 1997-11-01 Q13615 MTMR3_HUMAN MTMR3 Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR3 1198 133.6 22 3.1.3.95 Cytoplasm; Membrane 0 0 0 1 5 1997-11-01 Q13671 RIN1_HUMAN RIN1 Ras and Rab interactor 1 783 84.1 11 Cytoplasm; Membrane 0 0 0 1 5 1997-11-01 Q13753 LAMC2_HUMAN LAMC2 Laminin subunit gamma-2 1193 131 1 Secreted 0 2 Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junctional 3B, severe 0 1 5 1997-11-01 Q13797 ITA9_HUMAN ITGA9 Integrin alpha-9 1035 114.5 3 Membrane 1 0 0 1 5 1997-11-01 Q14129 DGCR6_HUMAN DGCR6 Protein DGCR6 220 25 22 Nucleus 0 0 0 1 5 2000-05-30 Q14153 FA53B_HUMAN FAM53B Protein FAM53B 422 45.8 10 Nucleus 0 0 0 1 5 1997-11-01 Q14157 UBP2L_HUMAN UBAP2L Ubiquitin-associated protein 2-like 1087 114.5 1 Nucleus; Chromosome; Cytoplasm 0 1 Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies 0 1 5 1997-11-01 Q14159 SPIDR_HUMAN SPIDR DNA repair-scaffolding protein 915 100.3 8 Chromosome; Nucleus 0 1 Ovarian dysgenesis 9 0 1 5 2006-10-03 Q14207 NPAT_HUMAN NPAT Protein NPAT 1427 154.3 11 Nucleus; Chromosome 0 0 0 1 5 2008-02-05 Q14257 RCN2_HUMAN RCN2 Reticulocalbin-2 317 36.9 15 Endoplasmic reticulum lumen 0 0 0 1 5 1997-11-01 Q14296 FASTK_HUMAN FASTK Fas-activated serine/threonine kinase 549 61.1 7 2.7.11.1, 2.7.11.8 Mitochondrion matrix 0 0 0 1 5 2001-02-21 Q14314 FGL2_HUMAN FGL2 Fibroleukin 439 50.2 7 Secreted 0 0 0 1 5 2001-01-11 Q14435 GALT3_HUMAN GALNT3 Polypeptide N-acetylgalactosaminyltransferase 3 633 72.6 2 2.4.1.41 Golgi apparatus 1 1 Tumoral calcinosis, hyperphosphatemic, familial, 1 0 1 5 2004-08-16 Q14508 WFDC2_HUMAN WFDC2 WAP four-disulfide core domain protein 2 124 13 20 Secreted 0 1 Bronchiectasis and nasal polyposis 0 1 5 1998-07-15 Q14642 I5P1_HUMAN INPP5A Inositol polyphosphate-5-phosphatase A 412 47.8 10 3.1.3.56 Cell membrane; Cell projection 0 0 0 1 5 1998-07-15 Q14656 TM187_HUMAN TMEM187 Transmembrane protein 187 261 29.1 X Membrane 6 0 0 1 5 1997-11-01 Q14693 LPIN1_HUMAN LPIN1 Phosphatidate phosphatase LPIN1 890 98.7 2 3.1.3.4 Cytoplasm; Endoplasmic reticulum membrane; Nucleus membrane 0 1 Myoglobinuria, acute recurrent, autosomal recessive 0 1 5 1997-11-01 Q14714 SSPN_HUMAN SSPN Sarcospan 243 26.6 12 Cell membrane; Postsynaptic cell membrane 4 0 0 1 5 2001-04-27 Q14773 ICAM4_HUMAN ICAM4 Intercellular adhesion molecule 4 271 29.3 19 Cell membrane 1 0 0 1 5 1997-11-01 Q14872 MTF1_HUMAN MTF1 Metal regulatory transcription factor 1 753 81 1 Nucleus; Cytoplasm 0 0 0 1 5 2005-06-21 Q14956 GPNMB_HUMAN GPNMB Transmembrane glycoprotein NMB 572 63.9 7 Cell membrane; Melanosome membrane; Early endosome membrane 1 1 Amyloidosis, primary localized cutaneous, 3 0 1 5 1997-11-01 Q149M9 NWD1_HUMAN NWD1 NACHT domain- and WD repeat-containing protein 1 1564 174.6 19 Cytoplasm 0 0 0 1 5 2007-10-23 Q14CN2 CLCA4_HUMAN CLCA4 Calcium-activated chloride channel regulator 4 919 101.3 1 3.4.-.- Cell membrane; Apical cell membrane; Secreted 1 0 0 1 5 2008-07-22 Q14D04 MELT_HUMAN VEPH1 Ventricular zone-expressed PH domain-containing protein homolog 1 833 94.7 3 Cell membrane 0 0 0 1 5 2007-08-21 Q14D33 RTP5_HUMAN RTP5 Receptor-transporting protein 5 572 60.5 2 Membrane 1 0 0 1 5 2008-09-02 Q15139 KPCD1_HUMAN PRKD1 Serine/threonine-protein kinase D1 912 101.7 14 2.7.11.13 Cytoplasm; Cell membrane; Golgi apparatus 0 1 Congenital heart defects and ectodermal dysplasia 0 1 5 1997-11-01 Q15155 NOMO1_HUMAN NOMO1 BOS complex subunit NOMO1 1222 134.3 16 Endoplasmic reticulum membrane 1 0 0 1 5 2001-01-11 Q15415 RBY1F_HUMAN RBMY1F RNA-binding motif protein, Y chromosome, family 1 member F/J 496 55.7 Y Nucleus 0 0 0 1 5 2008-01-15 Q15555 MARE2_HUMAN MAPRE2 Microtubule-associated protein RP/EB family member 2 327 37 18 Cytoplasm 0 1 Skin creases, congenital symmetric circumferential, 2 0 1 5 2005-03-01 Q15569 TESK1_HUMAN TESK1 Dual specificity testis-specific protein kinase 1 626 67.7 9 2.7.12.1 Cytoplasm; Cell projection 0 0 0 1 5 1997-11-01 Q15572 TAF1C_HUMAN TAF1C TATA box-binding protein-associated factor RNA polymerase I subunit C 869 95.2 16 Nucleus 0 0 0 1 5 2005-08-16 Q15696 U2AFM_HUMAN ZRSR2 U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2 482 58 X Nucleus 0 1 Orofaciodigital syndrome 21 0 1 5 1997-11-01 Q15699 ALX1_HUMAN ALX1 ALX homeobox protein 1 326 37 12 Nucleus 0 1 Frontonasal dysplasia 3 0 1 5 1998-07-15 Q15723 ELF2_HUMAN ELF2 ETS-related transcription factor Elf-2 593 64 4 Nucleus 0 0 0 1 5 2005-06-21 Q15761 NPY5R_HUMAN NPY5R Neuropeptide Y receptor type 5 445 50.7 4 Cell membrane 7 0 0 2 5 1997-11-01 Q15800 MSMO1_HUMAN MSMO1 Methylsterol monooxygenase 1 293 35.2 4 1.14.18.9 Endoplasmic reticulum membrane 3 1 Microcephaly, congenital cataract, and psoriasiform dermatitis 0 1 5 1997-11-01 Q15884 EREP1_HUMAN ENTREP1 Endosomal transmembrane epsin interactor 1 450 49.7 9 Early endosome membrane; Late endosome membrane; Recycling endosome membrane; Cell membrane 1 0 0 1 5 2001-04-27 Q15915 ZIC1_HUMAN ZIC1 Zinc finger protein ZIC 1 447 48.3 3 Nucleus; Cytoplasm 0 2 Craniosynostosis 6; Structural brain anomalies with impaired intellectual development and craniosynostosis 0 1 5 2000-05-30 Q15928 ZN141_HUMAN ZNF141 Zinc finger protein 141 474 55.2 4 Nucleus 0 1 Polydactyly, postaxial A6 0 1 5 1997-11-01 Q15942 ZYX_HUMAN ZYX Zyxin 572 61.3 7 Cytoplasm; Nucleus; Cell junction 0 0 0 1 5 1997-11-01 Q16134 ETFD_HUMAN ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial 617 68.5 4 1.5.5.1 Mitochondrion inner membrane 0 1 Glutaric aciduria 2C 0 1 5 1997-11-01 Q16322 KCA10_HUMAN KCNA10 Potassium voltage-gated channel subfamily A member 10 511 57.8 1 Membrane 6 0 0 1 5 2007-10-23 Q16352 AINX_HUMAN INA Alpha-internexin 499 55.4 10 0 0 0 1 5 2000-05-30 Q16478 GRIK5_HUMAN GRIK5 Glutamate receptor ionotropic, kainate 5 980 109.3 19 Cell membrane; Postsynaptic cell membrane; Presynaptic cell membrane 3 0 0 1 5 1998-07-15 Q16526 CRY1_HUMAN CRY1 Cryptochrome-1 586 66.4 12 Cytoplasm; Nucleus 0 1 Delayed sleep phase syndrome 0 1 5 2006-11-28 Q16553 LY6E_HUMAN LY6E Lymphocyte antigen 6E 131 13.5 8 Cell membrane 0 0 0 1 5 2000-12-01 Q16623 STX1A_HUMAN STX1A Syntaxin-1A 288 33 7 Cytoplasmic vesicle; Synapse; Cell membrane 1 0 0 1 5 1997-11-01 Q16650 TBR1_HUMAN TBR1 T-box brain protein 1 682 74.1 2 Nucleus 0 1 Intellectual developmental disorder with autism and speech delay 0 1 5 1997-11-01 Q16653 MOG_HUMAN MOG Myelin-oligodendrocyte glycoprotein 247 28.2 6 Cell membrane 2 1 Narcolepsy 7 0 1 5 1997-11-01 Q16787 LAMA3_HUMAN LAMA3 Laminin subunit alpha-3 3333 366.6 18 Secreted 0 3 Epidermolysis bullosa, junctional 2A, intermediate; Epidermolysis bullosa, junctional 2B, severe; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous 0 1 5 1997-11-01 Q16822 PCKGM_HUMAN PCK2 Phosphoenolpyruvate carboxykinase [GTP], mitochondrial 640 70.7 14 4.1.1.32 Mitochondrion 0 1 Mitochondrial phosphoenolpyruvate carboxykinase deficiency 0 1 5 1998-07-15 Q16877 F264_HUMAN PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 469 54 3 0 0 0 1 5 1998-07-15 Q16890 TPD53_HUMAN TPD52L1 Tumor protein D53 204 22.4 6 0 0 0 1 5 2001-01-24 Q19T08 ECSCR_HUMAN ECSCR Endothelial cell-specific chemotaxis regulator 205 21.3 5 Cell membrane; Cytoplasm 1 0 0 1 5 2009-03-03 Q1L5Z9 LONF2_HUMAN LONRF2 LON peptidase N-terminal domain and RING finger protein 2 754 83.7 2 0 0 0 1 5 2007-02-20 Q1MSJ5 CSPP1_HUMAN CSPP1 Centrosome and spindle pole-associated protein 1 1256 145.5 8 Cytoplasm; Cell projection 0 1 Joubert syndrome 21 0 1 5 2007-07-10 Q2HXU8 CL12B_HUMAN CLEC12B C-type lectin domain family 12 member B 276 31.6 12 Cell membrane 1 0 0 1 5 2008-01-15 Q2KHT4 GSG1_HUMAN GSG1 Germ cell-specific gene 1 protein 349 39.2 12 Endoplasmic reticulum membrane 4 0 0 1 5 2008-04-29 Q2M1V0 ISX_HUMAN ISX Intestine-specific homeobox 245 27 22 Nucleus 0 0 0 1 5 2007-05-29 Q2M3C6 TM266_HUMAN TMEM266 Transmembrane protein 266 523 57.6 15 Cell membrane; Cell projection; Perikaryon 4 0 0 1 5 2006-06-27 Q2M3C7 SPKAP_HUMAN SPHKAP A-kinase anchor protein SPHKAP 1700 186.5 2 Cytoplasm 0 0 0 1 5 2008-02-26 Q2MV58 TECT1_HUMAN TCTN1 Tectonic-1 587 63.6 12 Cytoplasm; Secreted 0 1 Joubert syndrome 13 0 1 5 2006-04-04 Q2NL67 PARP6_HUMAN PARP6 Protein mono-ADP-ribosyltransferase PARP6 630 71.1 15 2.4.2.- 0 0 0 1 5 2006-10-17 Q2T9J0 TYSD1_HUMAN TYSND1 Peroxisomal leader peptide-processing protease 566 59.3 10 3.4.21.- Peroxisome 0 0 0 1 5 2007-05-01 Q2TAA5 ALG11_HUMAN ALG11 GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase 492 55.7 13 2.4.1.131 Endoplasmic reticulum membrane 1 1 Congenital disorder of glycosylation 1P 0 1 5 2007-07-24 Q2TB18 ASTE1_HUMAN ASTE1 Single-strand DNA endonuclease ASTE1 679 77.1 3 3.1.-.- 0 0 0 1 5 2007-11-13 Q2TB90 HKDC1_HUMAN HKDC1 Hexokinase HKDC1 917 102.5 10 2.7.1.1 Cytoplasm; Mitochondrion membrane; Photoreceptor inner segment 0 1 Retinitis pigmentosa 92 0 1 5 2007-08-21 Q2UY09 COSA1_HUMAN COL28A1 Collagen alpha-1(XXVIII) chain 1125 116.7 7 Secreted 0 0 0 1 5 2008-02-05 Q2WGJ6 KLH38_HUMAN KLHL38 Kelch-like protein 38 581 65.5 8 0 0 0 1 5 2008-03-18 Q30KQ6 DB114_HUMAN DEFB114 Beta-defensin 114 69 8.3 6 Secreted 0 0 0 1 5 2006-01-10 Q3B820 F161A_HUMAN FAM161A Protein FAM161A 660 76.8 2 Cytoplasm; Cell projection 0 1 Retinitis pigmentosa 28 0 1 5 2008-04-08 Q3KNS1 PTHD3_HUMAN PTCHD3 Patched domain-containing protein 3 954 107.7 10 Cell projection; Endoplasmic reticulum membrane 13 0 0 1 5 2007-11-13 Q3LI66 KRA62_HUMAN KRTAP6-2 Keratin-associated protein 6-2 62 6.7 21 0 0 0 1 5 2006-02-21 Q3LIE5 ADPRM_HUMAN ADPRM Manganese-dependent ADP-ribose/CDP-alcohol diphosphatase 342 39.5 17 3.6.1.16, 3.6.1.53 0 0 0 1 5 2007-05-15 Q3SXM5 HSDL1_HUMAN HSDL1 Inactive hydroxysteroid dehydrogenase-like protein 1 330 37 16 Mitochondrion 0 0 0 1 5 2008-01-15 Q3SYF9 KR197_HUMAN KRTAP19-7 Keratin-associated protein 19-7 63 6.6 21 0 0 0 1 5 2006-02-21 Q3T8J9 GON4L_HUMAN GON4L GON-4-like protein 2241 248.6 1 Nucleus; Chromosome 0 1 Li-Takada-Miyake syndrome 0 1 5 2005-12-20 Q3V5L5 MGT5B_HUMAN MGAT5B Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B 792 89.5 17 2.4.1.-, 2.4.1.155 Golgi apparatus membrane 1 0 0 1 5 2007-05-29 Q3YEC7 RABL6_HUMAN RABL6 Rab-like protein 6 729 79.5 9 3.6.5.2 Cytoplasm 0 0 0 1 5 2007-02-06 Q495C1 RN212_HUMAN RNF212 Probable E3 SUMO-protein ligase RNF212 297 33.4 4 2.3.2.- Nucleus; Chromosome 0 1 Spermatogenic failure 62 0 1 5 2007-02-06 Q495W5 OFUT4_HUMAN POFUT4 GDP-fucose protein O-fucosyltransferase 4 492 55.8 10 2.4.1.221 Endoplasmic reticulum membrane 1 0 0 1 5 2007-08-21 Q49A17 GLTL6_HUMAN GALNTL6 Polypeptide N-acetylgalactosaminyltransferase-like 6 601 69.8 4 2.4.1.41 Golgi apparatus membrane 1 0 0 2 5 2008-03-18 Q4ADV7 RIC1_HUMAN RIC1 Guanine nucleotide exchange factor subunit RIC1 1423 159.3 9 Cytoplasm; Membrane 0 1 CATIFA syndrome 0 1 5 2008-02-26 Q4AE62 QTMAN_HUMAN QTMAN tRNA-queuosine alpha-mannosyltransferase 458 52.6 2 2.4.1.110 Cytoplasm; Nucleus 0 0 0 1 5 2007-11-13 Q4G0M1 ERFE_HUMAN ERFE Erythroferrone 354 37.3 2 Secreted 0 0 0 1 5 2008-06-10 Q4G0S4 C27C1_HUMAN CYP27C1 Cytochrome P450 27C1 542 60.9 2 1.14.19.53 Mitochondrion membrane 0 0 0 1 5 2007-07-10 Q4JDL3 PTN20_HUMAN PTPN20 Tyrosine-protein phosphatase non-receptor type 20 420 48.4 10 3.1.3.48 Nucleus; Cytoplasm 0 0 0 1 5 2007-07-24 Q4KMP7 TB10B_HUMAN TBC1D10B TBC1 domain family member 10B 808 87.2 16 Cytoplasm; Cell membrane 0 0 0 1 5 2008-01-15 Q4V9L6 TM119_HUMAN TMEM119 Transmembrane protein 119 283 29.2 12 Cell membrane; Cytoplasm; Endoplasmic reticulum membrane; Secreted 1 0 0 1 5 2006-10-03 Q4VNC1 AT134_HUMAN ATP13A4 Probable cation-transporting ATPase 13A4 1196 134 3 7.2.2.- Endoplasmic reticulum; Early endosome membrane; Late endosome membrane; Recycling endosome membrane 10 0 0 1 5 2008-02-26 Q4ZHG4 FNDC1_HUMAN FNDC1 Fibronectin type III domain-containing protein 1 1894 205.6 6 Secreted 0 0 0 1 5 2007-04-17 Q52LJ0 FA98B_HUMAN FAM98B tRNA-splicing ligase complex subunit FAM98B 433 45.5 15 Nucleus; Cytoplasm 0 0 0 1 5 2005-12-06 Q53FV1 ORML2_HUMAN ORMDL2 ORM1-like protein 2 153 17.4 12 Endoplasmic reticulum membrane 3 0 0 1 5 2005-11-08 Q53GQ0 DHB12_HUMAN HSD17B12 Very-long-chain 3-oxoacyl-CoA reductase 312 34.3 11 1.1.1.330 Endoplasmic reticulum membrane 3 0 0 1 5 2006-09-05 Q53HI1 UNC50_HUMAN UNC50 Protein unc-50 homolog 259 30.4 2 Nucleus inner membrane; Golgi apparatus membrane 5 0 0 1 5 2007-11-13 Q58EX7 PKHG4_HUMAN PLEKHG4 Puratrophin-1 1191 130.8 16 0 0 0 1 5 2006-03-07 Q59EK9 RUN3A_HUMAN RUNDC3A RUN domain-containing protein 3A 446 49.7 17 0 0 0 1 5 2008-03-18 Q5BJF6 ODFP2_HUMAN ODF2 Outer dense fiber protein 2 829 95.4 9 Cytoplasm; Cell projection 0 0 0 1 5 2007-09-11 Q5BVD1 TTMP_HUMAN TTMP TPA-induced transmembrane protein 217 24.3 3 Endoplasmic reticulum; Cell membrane 1 1 Hypotrichosis 15 0 1 5 2006-09-05 Q5EG05 CAR16_HUMAN CARD16 Caspase recruitment domain-containing protein 16 197 22.6 11 0 0 0 1 5 2008-09-02 Q5H9J7 BEX5_HUMAN BEX5 Protein BEX5 111 12.6 X Cytoplasm 0 0 0 1 5 2006-04-04 Q5HYK7 SH319_HUMAN SH3D19 SH3 domain-containing protein 19 790 86.5 4 Cytoplasm; Nucleus 0 0 0 1 5 2008-02-05 Q5JR98 DYLT4_HUMAN DYNLT4 Dynein light chain Tctex-type 4 221 23.4 1 Cell projection; Cytoplasmic vesicle; Cytoplasm; Nucleus 0 0 0 1 5 2008-02-05 Q5JX71 F209A_HUMAN FAM209A Protein FAM209A 171 19.6 20 Nucleus inner membrane 1 0 0 1 5 2006-12-12 Q5JY77 GASP1_HUMAN GPRASP1 G protein-coupled receptor-associated sorting protein 1 1395 156.9 X Cytoplasm 0 0 0 1 5 2006-05-30 Q5JZY3 EPHAA_HUMAN EPHA10 Ephrin type-A receptor 10 1008 109.7 1 Cell membrane 1 1 Deafness, autosomal dominant, 88 0 1 5 2005-09-27 Q5K4L6 S27A3_HUMAN SLC27A3 Long-chain fatty acid transport protein 3 683 73.6 1 Mitochondrion membrane 1 0 0 1 5 2005-11-22 Q5M775 CYTSB_HUMAN SPECC1 Cytospin-B 1068 118.6 17 Nucleus 0 0 0 1 5 2006-10-31 Q5PSV4 BRM1L_HUMAN BRMS1L Breast cancer metastasis-suppressor 1-like protein 323 37.6 14 Nucleus 0 0 0 1 5 2007-10-02 Q5SGD2 PPM1L_HUMAN PPM1L Protein phosphatase 1L 360 41.1 3 3.1.3.16 Membrane 1 0 0 1 5 2006-01-10 Q5SQ64 LY66F_HUMAN LY6G6F Lymphocyte antigen 6 complex locus protein G6f 297 32.5 6 Cell membrane 1 0 0 1 5 2008-02-26 Q5SQQ9 VAX1_HUMAN VAX1 Ventral anterior homeobox 1 334 34.7 10 Nucleus 0 1 Microphthalmia, syndromic, 11 0 1 5 2006-06-27 Q5SVS4 KMCP1_HUMAN SLC25A30 Kidney mitochondrial carrier protein 1 291 32.5 13 Mitochondrion inner membrane 6 0 0 1 5 2007-05-29 Q5SXM8 DNLZ_HUMAN DNLZ DNL-type zinc finger protein 178 19.2 9 Mitochondrion 0 0 0 1 5 2008-02-05 Q5SYC1 CLVS2_HUMAN CLVS2 Clavesin-2 327 38 6 Golgi apparatus; Cytoplasmic vesicle; Early endosome membrane 0 0 0 1 5 2007-08-21 Q5SZK8 FREM2_HUMAN FREM2 FRAS1-related extracellular matrix protein 2 3169 351.2 13 Cell membrane 1 2 Fraser syndrome 2; Cryptophthalmos, unilateral or bilateral, isolated 0 1 5 2005-08-16 Q5T160 SYRM_HUMAN RARS2 Probable arginine--tRNA ligase, mitochondrial 578 65.5 6 6.1.1.19 Mitochondrion membrane 0 1 Pontocerebellar hypoplasia 6 0 1 5 2006-10-03 Q5T2R2 DPS1_HUMAN PDSS1 All trans-polyprenyl-diphosphate synthase PDSS1 415 46.3 10 Mitochondrion 0 1 Coenzyme Q10 deficiency, primary, 2 0 1 5 2006-01-24 Q5T3J3 LRIF1_HUMAN LRIF1 Ligand-dependent nuclear receptor-interacting factor 1 769 84.6 1 Chromosome; Nucleus matrix 0 1 Facioscapulohumeral muscular dystrophy 3, digenic 0 1 5 2006-10-03 Q5T442 CXG2_HUMAN GJC2 Gap junction gamma-2 protein 439 47 1 Cell membrane; Cell junction 4 3 Leukodystrophy, hypomyelinating, 2; Spastic paraplegia 44, autosomal recessive; Lymphatic malformation 3 0 1 5 2005-11-08 Q5T4D3 TMTC4_HUMAN TMTC4 Protein O-mannosyl-transferase TMTC4 741 83 13 2.4.1.109 Membrane; Endoplasmic reticulum 11 1 Deafness, autosomal recessive, 122 0 1 5 2007-03-20 Q5T619 ZN648_HUMAN ZNF648 Zinc finger protein 648 568 62.3 1 Nucleus 0 0 0 1 5 2006-10-03 Q5T6F2 UBAP2_HUMAN UBAP2 Ubiquitin-associated protein 2 1119 117.1 9 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 2007-01-09 Q5T7W7 TSTD2_HUMAN TSTD2 Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 2 516 58.3 9 0 0 0 1 5 2006-04-04 Q5T9C2 EEIG1_HUMAN EEIG1 Early estrogen-induced gene 1 protein 384 41.8 9 Nucleus; Cytoplasm; Membrane raft 0 0 0 1 5 2006-11-28 Q5TA79 LCE2A_HUMAN LCE2A Late cornified envelope protein 2A 106 10.8 1 0 0 0 1 5 2006-05-16 Q5TA89 HES5_HUMAN HES5 Transcription factor HES-5 166 18.2 1 Nucleus 0 0 0 1 5 2006-12-12 Q5VTB9 RN220_HUMAN RNF220 E3 ubiquitin-protein ligase RNF220 566 62.8 1 2.3.2.27 Cytoplasm; Nucleus 0 1 Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy 0 1 5 2007-02-20 Q5VV42 CDKAL_HUMAN CDKAL1 Threonylcarbamoyladenosine tRNA methylthiotransferase 579 65.1 6 2.8.4.5 Endoplasmic reticulum membrane 1 1 Type 2 diabetes mellitus 0 1 5 2007-09-11 Q5VWN6 TASO2_HUMAN TASOR2 Protein TASOR 2 2430 268.8 10 Nucleus; Chromosome 0 0 0 1 5 2007-09-11 Q5VWQ8 DAB2P_HUMAN DAB2IP Disabled homolog 2-interacting protein 1189 131.6 9 Cytoplasm; Cell membrane; Membrane; Cell projection 0 0 0 1 5 2006-10-17 Q5XG87 PAPD7_HUMAN TENT4A Terminal nucleotidyltransferase 4A 792 84.7 5 Cytoplasm; Nucleus 0 0 0 1 5 2005-02-01 Q5XLA6 CAR17_HUMAN CARD17P Putative caspase recruitment domain-containing protein 17P 110 11.9 11 Cytoplasm 0 0 0 5 5 2008-07-22 Q68CJ6 SLIP_HUMAN NUGGC Nuclear GTPase SLIP-GC 796 91.1 8 3.6.1.- Nucleus speckle 0 0 0 1 5 2007-09-11 Q68CQ4 UTP25_HUMAN UTP25 U3 small nucleolar RNA-associated protein 25 homolog 756 87.1 1 Nucleus 0 0 0 1 5 2006-10-31 Q693B1 KCD11_HUMAN KCTD11 BTB/POZ domain-containing protein KCTD11 232 25.9 17 0 0 0 1 5 2006-09-05 Q6AI39 BICRL_HUMAN BICRAL BRD4-interacting chromatin-remodeling complex-associated protein-like 1079 115.1 6 0 0 0 1 5 2006-09-05 Q6DJT9 PLAG1_HUMAN PLAG1 Zinc finger protein PLAG1 500 55.9 8 Nucleus 0 1 Silver-Russell syndrome 4 0 1 5 2007-07-10 Q6DKI2 LEG9C_HUMAN LGALS9C Galectin-9C 356 39.6 17 0 0 0 1 5 2008-04-29 Q6DKJ4 NXN_HUMAN NXN Nucleoredoxin 435 48.4 17 1.8.1.8 Cytoplasm; Nucleus 0 1 Robinow syndrome, autosomal recessive 2 0 1 5 2008-04-29 Q6DRA6 H2B2D_HUMAN H2BC19P Putative histone H2B type 2-D 164 18 Nucleus; Chromosome 0 0 0 5 5 2006-07-11 Q6EEV6 SUMO4_HUMAN SUMO4 Small ubiquitin-related modifier 4 95 10.7 6 0 1 Type 1 diabetes mellitus 5 0 1 5 2005-11-08 Q6FHJ7 SFRP4_HUMAN SFRP4 Secreted frizzled-related protein 4 346 39.8 7 Secreted 0 1 Pyle disease 0 1 5 2005-03-15 Q6GTS8 P20D1_HUMAN PM20D1 N-fatty-acyl-amino acid synthase/hydrolase PM20D1 502 55.7 1 3.5.1.114, 3.5.1.14 Secreted 0 0 0 1 5 2008-02-26 Q6IB77 GLYAT_HUMAN GLYAT Glycine N-acyltransferase 296 33.9 11 2.3.1.13 Mitochondrion 0 0 0 1 5 2007-04-03 Q6ICL7 S35E4_HUMAN SLC35E4 Solute carrier family 35 member E4 350 36.7 22 Membrane 8 0 0 1 5 2007-08-21 Q6IS24 GLT17_HUMAN GALNT17 Polypeptide N-acetylgalactosaminyltransferase 17 598 67.8 7 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q6L8G4 KR511_HUMAN KRTAP5-11 Keratin-associated protein 5-11 156 14.6 11 0 0 0 1 5 2004-12-21 Q6L8G8 KRA57_HUMAN KRTAP5-7 Keratin-associated protein 5-7 165 15.2 11 0 0 0 1 5 2004-12-21 Q6L8H2 KRA53_HUMAN KRTAP5-3 Keratin-associated protein 5-3 238 22.1 11 0 0 0 1 5 2004-12-21 Q6NUN0 ACSM5_HUMAN ACSM5 Acyl-coenzyme A synthetase ACSM5, mitochondrial 579 64.8 16 6.2.1.2 Mitochondrion matrix 0 0 0 1 5 2007-10-02 Q6NUQ1 RINT1_HUMAN RINT1 RAD50-interacting protein 1 792 90.6 7 Cytoplasm; Endoplasmic reticulum membrane 0 1 Infantile liver failure syndrome 3 0 1 5 2005-02-01 Q6NUT3 MFS12_HUMAN MFSD12 Major facilitator superfamily domain-containing protein 12 480 52.1 19 Melanosome membrane; Lysosome membrane 12 0 0 1 5 2007-02-06 Q6P1A2 MBOA5_HUMAN LPCAT3 Lysophospholipid acyltransferase 5 487 56 12 2.3.1.- Endoplasmic reticulum membrane 9 0 0 1 5 2006-05-02 Q6P1M0 S27A4_HUMAN SLC27A4 Long-chain fatty acid transport protein 4 643 72.1 9 Endoplasmic reticulum membrane 2 1 Ichthyosis prematurity syndrome 0 1 5 2005-11-22 Q6P1Q0 LTMD1_HUMAN LETMD1 LETM1 domain-containing protein 1 360 41.8 12 Mitochondrion outer membrane; Nucleus; Mitochondrion inner membrane 1 0 0 1 5 2007-11-13 Q6P2H8 TMM53_HUMAN TMEM53 Transmembrane protein 53 277 31.6 1 Nucleus outer membrane 1 1 Craniotubular dysplasia, Ikegawa type 0 1 5 2007-04-17 Q6P4H8 ACKMT_HUMAN ATPSCKMT ATP synthase subunit C lysine N-methyltransferase 233 26.1 5 2.1.1.- Mitochondrion membrane 1 0 0 1 5 2008-02-26 Q6P597 KLC3_HUMAN KLC3 Kinesin light chain 3 504 55.4 19 Cytoplasm; Mitochondrion 0 0 0 1 5 2006-04-04 Q6P5X5 CV039_HUMAN C22orf39 Synaptic plasticity regulator PANTS 105 12.5 22 Synapse; Synaptic cleft 0 0 0 1 5 2008-03-18 Q6P9F0 CCD62_HUMAN CCDC62 Coiled-coil domain-containing protein 62 684 77.7 12 Cytoplasm; Nucleus; Cytoplasmic vesicle 0 1 Spermatogenic failure 67 0 1 5 2006-06-13 Q6PCB6 AB17C_HUMAN ABHD17C Alpha/beta hydrolase domain-containing protein 17C 329 35.8 15 3.1.2.22 Recycling endosome membrane; Cell projection; Postsynaptic density membrane 0 0 0 1 5 2007-08-21 Q6PEX3 KR261_HUMAN KRTAP26-1 Keratin-associated protein 26-1 210 22.6 21 0 0 0 1 5 2006-02-21 Q6PEY1 TMM88_HUMAN TMEM88 Transmembrane protein 88 159 17.3 17 Cell membrane 2 0 0 1 5 2006-10-03 Q6PI77 GASP3_HUMAN GPRASP3 G protein-coupled receptor associated sorting protein 3 547 60.3 X Cytoplasm; Nucleus 0 0 0 1 5 2008-05-20 Q6PIJ6 FBX38_HUMAN FBXO38 F-box only protein 38 1188 133.9 5 Cytoplasm; Nucleus 0 1 Neuronopathy, distal hereditary motor, autosomal dominant 6 0 1 5 2004-08-31 Q6PIV2 FOXR1_HUMAN FOXR1 Forkhead box protein R1 292 33.3 11 Nucleus; Cytoplasm 0 0 0 1 5 2006-10-17 Q6PL45 BRID5_HUMAN BRICD5 BRICHOS domain-containing protein 5 260 28.5 16 Membrane 2 0 0 1 5 2007-04-17 Q6QN14 U17L6_HUMAN USP17L6P Ubiquitin carboxyl-terminal hydrolase 17-like protein 6 398 44.7 3.4.19.12 Nucleus; Cytoplasm 0 0 0 1 5 2008-04-29 Q6RVD6 SPAT8_HUMAN SPATA8 Spermatogenesis-associated protein 8 105 11.7 0 0 0 1 5 2007-02-20 Q6SA08 TSSK4_HUMAN TSSK4 Testis-specific serine/threonine-protein kinase 4 328 37.5 14 2.7.11.1 Cytoplasmic vesicle; Cell projection 0 0 0 1 5 2005-03-29 Q6STE5 SMRD3_HUMAN SMARCD3 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 483 55 7 Nucleus 0 0 0 1 5 2005-01-04 Q6U7Q0 ZN322_HUMAN ZNF322 Zinc finger protein 322 402 46.9 6 Cytoplasm; Nucleus 0 0 0 1 5 2005-11-22 Q6UVY6 MOXD1_HUMAN MOXD1 DBH-like monooxygenase protein 1 613 69.7 6 1.14.17.- Endoplasmic reticulum membrane 1 0 0 1 5 2007-10-02 Q6UW56 ARAID_HUMAN ATRAID All-trans retinoic acid-induced differentiation factor 229 24.7 2 Nucleus envelope; Cell membrane; Lysosome membrane 1 0 0 1 5 2005-06-21 Q6UWU4 CF089_HUMAN C6orf89 Bombesin receptor-activated protein C6orf89 347 39.9 6 Golgi apparatus membrane; Midbody 1 0 0 1 5 2006-05-30 Q6UX34 SNORC_HUMAN SNORC Protein SNORC 121 12.1 2 Membrane; Cytoplasm; Secreted 1 0 0 1 5 2008-02-05 Q6UX71 PXDC2_HUMAN PLXDC2 Plexin domain-containing protein 2 529 59.6 10 Membrane 1 0 0 1 5 2006-05-16 Q6UXB8 PI16_HUMAN PI16 Peptidase inhibitor 16 463 49.5 6 Secreted 0 0 0 1 5 2007-05-15 Q6UXH8 CCBE1_HUMAN CCBE1 Collagen and calcium-binding EGF domain-containing protein 1 406 44.1 18 Secreted 0 1 Hennekam lymphangiectasia-lymphedema syndrome 1 0 1 5 2007-03-06 Q6UXM1 LRIG3_HUMAN LRIG3 Leucine-rich repeats and immunoglobulin-like domains protein 3 1119 123.4 12 Cell membrane; Cytoplasmic vesicle membrane 1 0 0 1 5 2005-08-16 Q6VEQ5 WASH2_HUMAN WASH2P WAS protein family homolog 2 465 50.3 Early endosome membrane; Recycling endosome membrane; Late endosome; Cytoplasmic vesicle; Cytoplasm 0 0 0 2 5 2006-10-31 Q6VN20 RBP10_HUMAN RANBP10 Ran-binding protein 10 620 67.3 16 Cytoplasm; Nucleus 0 0 0 1 5 2007-10-02 Q6W4X9 MUC6_HUMAN MUC6 Mucin-6 2439 257.1 11 Secreted 0 0 0 1 5 2006-10-31 Q6X9E4 FBW12_HUMAN FBXW12 F-box/WD repeat-containing protein 12 464 53.1 3 0 0 0 1 5 2004-08-31 Q6ZMB0 B3GN6_HUMAN B3GNT6 Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase 384 42.7 11 2.4.1.147 Golgi apparatus membrane 1 0 0 1 5 2007-05-29 Q6ZMM2 ATL5_HUMAN ADAMTSL5 ADAMTS-like protein 5 481 53.2 Secreted 0 0 0 1 5 2006-09-19 Q6ZNJ1 NBEL2_HUMAN NBEAL2 Neurobeachin-like protein 2 2754 302.5 3 Endoplasmic reticulum 0 1 Gray platelet syndrome 0 1 5 2008-05-20 Q6ZP80 TM182_HUMAN TMEM182 Transmembrane protein 182 229 25.9 2 Cell membrane 3 0 0 1 5 2007-06-12 Q6ZQN7 SO4C1_HUMAN SLCO4C1 Solute carrier organic anion transporter family member 4C1 724 78.9 5 Basolateral cell membrane 12 0 0 1 5 2008-05-20 Q6ZR08 DYH12_HUMAN DNAH12 Dynein axonemal heavy chain 12 3092 356.9 3 Cell projection 0 1 Spermatogenic failure 100 0 1 5 2007-12-04 Q6ZSJ9 SHSA6_HUMAN SHISA6 Protein shisa-6 500 55.8 17 Membrane; Postsynaptic density 1 0 0 1 5 2008-03-18 Q6ZTR5 CFA47_HUMAN CFAP47 Cilia- and flagella-associated protein 47 3187 361.6 X Cytoplasm 0 1 Spermatogenic failure, X-linked, 3 0 1 5 2005-07-05 Q6ZU64 CFA65_HUMAN CFAP65 Cilia- and flagella-associated protein 65 1925 217.3 2 Cell projection; Cytoplasmic vesicle; Cytoplasm 1 1 Spermatogenic failure 40 0 1 5 2007-05-29 Q6ZU80 CE128_HUMAN CEP128 Centrosomal protein 128 1094 128 14 Cytoplasm 0 0 0 1 5 2005-07-19 Q6ZUI0 TPRG1_HUMAN TPRG1 Tumor protein p63-regulated gene 1 protein 275 31.2 3 Cytoplasm 0 0 0 1 5 2006-12-12 Q6ZV65 FA47E_HUMAN FAM47E Protein FAM47E 393 45.7 4 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 2008-03-18 Q6ZVM7 TM1L2_HUMAN TOM1L2 TOM1-like protein 2 507 55.6 17 0 0 0 1 5 2007-02-20 Q6ZVT0 TTL10_HUMAN TTLL10 Inactive polyglycylase TTLL10 673 75 1 0 0 0 1 5 2008-03-18 Q6ZWT7 MBOA2_HUMAN MBOAT2 Membrane-bound glycerophospholipid O-acyltransferase 2 520 59.5 2 2.3.1.- Endoplasmic reticulum membrane 9 0 0 1 5 2007-01-23 Q6ZXV5 TMTC3_HUMAN TMTC3 Protein O-mannosyl-transferase TMTC3 915 104 12 2.4.1.109 Membrane; Endoplasmic reticulum 11 1 Lissencephaly 8 0 1 5 2007-03-20 Q709C8 VP13C_HUMAN VPS13C Intermembrane lipid transfer protein VPS13C 3753 422.4 15 Mitochondrion outer membrane; Lipid droplet; Endoplasmic reticulum membrane; Lysosome membrane; Late endosome membrane 0 1 Parkinson disease 23, autosomal recessive, early onset 0 1 5 2006-11-28 Q70EK9 UBP51_HUMAN USP51 Ubiquitin carboxyl-terminal hydrolase 51 711 79.8 X 3.4.19.12 Chromosome 0 0 0 1 5 2004-09-13 Q70EL2 UBP45_HUMAN USP45 Ubiquitin carboxyl-terminal hydrolase 45 814 91.7 6 3.4.19.12 Photoreceptor inner segment; Cytoplasm; Nucleus 0 1 Leber congenital amaurosis 19 0 1 5 2007-03-20 Q70SY1 CR3L2_HUMAN CREB3L2 Cyclic AMP-responsive element-binding protein 3-like protein 2 520 57.4 7 Endoplasmic reticulum membrane 1 0 0 1 5 2007-05-29 Q75T13 PGAP1_HUMAN PGAP1 GPI inositol-deacylase 922 105.4 2 3.1.-.- Endoplasmic reticulum membrane 7 1 Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities 0 1 5 2007-02-06 Q7L1V2 MON1B_HUMAN MON1B Vacuolar fusion protein MON1 homolog B 547 59.2 16 0 0 0 1 5 2007-05-01 Q7L2K0 TEDC2_HUMAN TEDC2 Tubulin epsilon and delta complex protein 2 433 46.4 16 Cell projection; Cytoplasm 0 0 0 1 5 2007-05-15 Q7L4I2 RSRC2_HUMAN RSRC2 Arginine/serine-rich coiled-coil protein 2 434 50.6 12 0 0 0 1 5 2008-01-15 Q7L590 MCM10_HUMAN MCM10 Protein MCM10 homolog 875 98.2 10 Nucleus 0 1 Immunodeficiency 80 with or without congenital cardiomyopathy 0 1 5 2007-02-20 Q7RTR2 NLRC3_HUMAN NLRC3 NLR family CARD domain-containing protein 3 1065 114.7 16 Cytoplasm 0 0 0 1 5 2007-07-24 Q7RTU1 TCF23_HUMAN TCF23 Transcription factor 23 214 23.3 2 Nucleus 0 0 0 1 5 2008-01-15 Q7RTX1 TS1R1_HUMAN TAS1R1 Taste receptor type 1 member 1 841 93.1 1 Cell membrane 7 0 0 2 5 2005-01-04 Q7RTY0 MOT13_HUMAN SLC16A13 Monocarboxylate transporter 13 426 45 17 Golgi apparatus membrane; Cell membrane 12 1 Type 2 diabetes mellitus 0 1 5 2007-05-15 Q7Z392 TPC11_HUMAN TRAPPC11 Trafficking protein particle complex subunit 11 1133 128.9 4 Golgi apparatus 0 1 Muscular dystrophy, limb-girdle, autosomal recessive 18 0 1 5 2008-09-02 Q7Z3D6 GLUCM_HUMAN DGLUCY D-glutamate cyclase, mitochondrial 616 66.4 14 4.2.1.48 Mitochondrion matrix 0 0 0 1 5 2004-06-07 Q7Z3V4 UBE3B_HUMAN UBE3B Ubiquitin-protein ligase E3B 1068 123.1 12 2.3.2.26 Postsynaptic density 0 1 Kaufman oculocerebrofacial syndrome 0 1 5 2007-04-03 Q7Z407 CSMD3_HUMAN CSMD3 CUB and sushi domain-containing protein 3 3707 406 8 Cell membrane 2 0 0 1 5 2003-11-28 Q7Z429 LFG1_HUMAN GRINA Protein lifeguard 1 371 41.2 8 Membrane 7 0 0 1 5 2008-01-15 Q7Z465 BNIPL_HUMAN BNIPL Bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein 357 39.7 1 0 0 0 1 5 2005-01-04 Q7Z4F1 LRP10_HUMAN LRP10 Low-density lipoprotein receptor-related protein 10 713 76.2 14 Membrane 1 0 0 1 5 2004-04-13 Q7Z4Q2 HEAT3_HUMAN HEATR3 HEAT repeat-containing protein 3 680 74.6 16 0 1 Diamond-Blackfan anemia 21 0 1 5 2004-03-15 Q7Z5B4 RIC3_HUMAN RIC3 Protein RIC-3 369 41.1 11 Endoplasmic reticulum membrane 1 0 0 1 5 2007-09-11 Q7Z695 ADCK2_HUMAN ADCK2 Uncharacterized aarF domain-containing protein kinase 2 626 69 7 2.7.11.- Mitochondrion; Membrane 1 0 0 1 5 2007-01-09 Q7Z6B7 SRGP1_HUMAN SRGAP1 SLIT-ROBO Rho GTPase-activating protein 1 1085 124.3 12 0 1 Thyroid cancer, non-medullary, 2 0 1 5 2004-06-07 Q7Z6I6 RHG30_HUMAN ARHGAP30 Rho GTPase-activating protein 30 1101 118.6 1 Cytoplasmic vesicle 0 0 0 1 5 2007-03-20 Q7Z6K1 THAP5_HUMAN THAP5 THAP domain-containing protein 5 395 45.4 7 Nucleus 0 0 0 1 5 2008-05-20 Q7Z769 S35E3_HUMAN SLC35E3 Solute carrier family 35 member E3 313 35.1 12 Membrane 9 0 0 1 5 2007-08-21 Q7Z7G2 CPLX4_HUMAN CPLX4 Complexin-4 160 18.3 18 Synapse; Cell membrane 0 0 0 1 5 2006-06-13 Q7Z7H3 CATIP_HUMAN CATIP Ciliogenesis-associated TTC17-interacting protein 387 43.9 2 Nucleus; Cytoplasm; Cell membrane 0 1 Spermatogenic failure 54 0 1 5 2007-11-13 Q7Z7M8 B3GN8_HUMAN B3GNT8 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 8 397 43.4 19 2.4.1.149 Golgi apparatus membrane 1 0 0 1 5 2007-10-02 Q86SG3 DAZ4_HUMAN DAZ4 Deleted in azoospermia protein 4 579 64.8 Y Cytoplasm; Nucleus 0 1 Spermatogenic failure Y-linked 2 0 1 5 2004-03-01 Q86SQ6 AGRA1_HUMAN ADGRA1 Adhesion G protein-coupled receptor A1 560 60.9 10 Membrane 7 0 0 1 5 2004-04-13 Q86SX3 TEDC1_HUMAN TEDC1 Tubulin epsilon and delta complex protein 1 495 54.2 14 Cell projection; Cytoplasm 0 0 0 1 5 2008-04-29 Q86T96 RN180_HUMAN RNF180 E3 ubiquitin-protein ligase RNF180 592 68.3 5 2.3.2.27 Endoplasmic reticulum membrane; Nucleus envelope 1 0 0 1 5 2006-11-28 Q86TC9 MYPN_HUMAN MYPN Myopalladin 1320 145.3 10 Cytoplasm; Nucleus 0 4 Congenital myopathy 24; Cardiomyopathy, dilated, 1KK; Cardiomyopathy, familial hypertrophic, 22; Cardiomyopathy, familial restrictive 4 0 1 5 2006-06-27 Q86TL2 STIMA_HUMAN STIMATE Store-operated calcium entry regulator STIMATE 294 33.2 3 Endoplasmic reticulum membrane 5 0 0 1 5 2006-06-27 Q86TX2 ACOT1_HUMAN ACOT1 Acyl-coenzyme A thioesterase 1 421 46.3 14 3.1.2.- Cytoplasm 0 0 0 1 5 2004-07-19 Q86U10 LPP60_HUMAN ASPG 60 kDa lysophospholipase 573 60.9 14 3.1.1.5 0 0 0 1 5 2008-03-18 Q86UN3 R4RL2_HUMAN RTN4RL2 Reticulon-4 receptor-like 2 420 46.1 11 Cell membrane; Membrane raft; Cell projection; Perikaryon 0 0 0 1 5 2006-02-07 Q86UQ0 ZN589_HUMAN ZNF589 Zinc finger protein 589 364 41.2 3 Nucleus 0 0 0 1 5 2007-10-02 Q86UQ8 NFE4_HUMAN NFE4 Transcription factor NF-E4 179 19 Nucleus 0 0 0 1 5 2008-09-23 Q86UU5 GGN_HUMAN GGN Gametogenetin 652 66.7 19 0 1 Spermatogenic failure 69 0 1 5 2006-06-13 Q86V15 CASZ1_HUMAN CASZ1 Zinc finger protein castor homolog 1 1759 190.1 1 Nucleus 0 0 0 1 5 2004-05-24 Q86V48 LUZP1_HUMAN LUZP1 Leucine zipper protein 1 1076 120.3 1 Cytoplasm; Midbody; Chromosome; Nucleus; Cell projection; Perikaryon; Cell junction 0 0 0 1 5 2006-05-16 Q86VD9 PIGZ_HUMAN PIGZ GPI alpha-1,2-mannosyltransferase 4 579 63.5 3 2.4.1.- Endoplasmic reticulum membrane 8 0 0 1 5 2006-07-25 Q86VF5 MOGT3_HUMAN MOGAT3 2-acylglycerol O-acyltransferase 3 341 38.7 7 2.3.1.20, 2.3.1.22 Endoplasmic reticulum membrane; Cytoplasm 3 0 0 1 5 2006-09-05 Q86VV4 RNB3L_HUMAN RANBP3L Ran-binding protein 3-like 465 52.2 5 Nucleus; Cytoplasm 0 0 0 1 5 2007-12-04 Q86VZ5 SMS1_HUMAN SGMS1 Phosphatidylcholine:ceramide cholinephosphotransferase 1 413 48.6 10 2.7.8.27 Golgi apparatus membrane 6 0 0 1 5 2004-03-01 Q86W11 ZSC30_HUMAN ZSCAN30 Zinc finger and SCAN domain-containing protein 30 494 56.4 18 Nucleus 0 0 0 1 5 2007-09-11 Q86W74 ANR46_HUMAN ANKRD46 Ankyrin repeat domain-containing protein 46 228 25.3 8 Membrane 1 0 0 1 5 2006-06-27 Q86WH2 RASF3_HUMAN RASSF3 Ras association domain-containing protein 3 238 27.6 12 Cytoplasm 0 0 0 1 5 2006-06-27 Q86WQ0 NR2CA_HUMAN NR2C2AP Nuclear receptor 2C2-associated protein 139 15.9 19 Nucleus 0 0 0 1 5 2007-07-24 Q86X45 DAA11_HUMAN DNAAF11 Dynein axonemal assembly factor 11 466 54.3 8 Cytoplasm; Cell projection; Dynein axonemal particle 0 1 Ciliary dyskinesia, primary, 19 0 1 5 2005-10-11 Q86X52 CHSS1_HUMAN CHSY1 Chondroitin sulfate synthase 1 802 91.8 15 2.4.1.175, 2.4.1.226 Golgi apparatus; Secreted 1 1 Temtamy preaxial brachydactyly syndrome 0 1 5 2005-02-01 Q86XJ0 CAHM3_HUMAN CALHM3 Calcium homeostasis modulator protein 3 344 38.5 10 Basolateral cell membrane 4 0 0 1 5 2005-07-05 Q86XK3 SFR1_HUMAN SFR1 Swi5-dependent recombination DNA repair protein 1 homolog 245 28.3 10 Nucleus 0 0 0 1 5 2005-08-16 Q86XK7 VSIG1_HUMAN VSIG1 V-set and immunoglobulin domain-containing protein 1 387 41.8 X Membrane 1 0 0 1 5 2008-01-15 Q86XS8 GOLI_HUMAN RNF130 E3 ubiquitin-protein ligase RNF130 419 46.4 5 2.3.2.27 Membrane; Cytoplasm 1 0 0 1 5 2004-12-21 Q86XT4 TRI50_HUMAN TRIM50 E3 ubiquitin-protein ligase TRIM50 487 54.7 7 2.3.2.27 Cytoplasm 0 0 0 1 5 2004-12-07 Q86Y37 CACL1_HUMAN CACUL1 CDK2-associated and cullin domain-containing protein 1 369 41.1 10 0 0 0 1 5 2005-06-07 Q86Y46 K2C73_HUMAN KRT73 Keratin, type II cytoskeletal 73 540 58.9 12 0 0 0 1 5 2008-01-15 Q86YB8 ERO1B_HUMAN ERO1B ERO1-like protein beta 467 53.5 1 1.8.3.2 Endoplasmic reticulum membrane 0 0 0 1 5 2004-07-19 Q86YH6 DLP1_HUMAN PDSS2 All trans-polyprenyl-diphosphate synthase PDSS2 399 44.1 6 Mitochondrion 0 1 Coenzyme Q10 deficiency, primary, 3 0 1 5 2005-08-16 Q86YS3 RFIP4_HUMAN RAB11FIP4 Rab11 family-interacting protein 4 637 71.9 17 Endosome; Cytoplasm; Recycling endosome membrane; Cleavage furrow; Midbody; Cytoplasmic vesicle 0 0 0 1 5 2005-05-10 Q86YV0 RASL3_HUMAN RASAL3 RAS protein activator like-3 1011 111.9 19 Cytoplasm 0 0 0 1 5 2008-02-26 Q86YW7 GPHB5_HUMAN GPHB5 Glycoprotein hormone beta-5 130 14.2 14 Secreted 0 0 0 1 5 2003-10-10 Q86YW9 MD12L_HUMAN MED12L Mediator of RNA polymerase II transcription subunit 12-like protein 2145 240.1 3 Nucleus 0 1 Nizon-Isidor syndrome 0 1 5 2008-01-15 Q8IUA7 ABCA9_HUMAN ABCA9 ATP-binding cassette sub-family A member 9 1624 184.4 17 7.6.2.- Membrane 14 0 0 1 5 2006-10-03 Q8IUC1 KR111_HUMAN KRTAP11-1 Keratin-associated protein 11-1 163 17.1 21 0 0 0 1 5 2003-06-27 Q8IUI8 CRLF3_HUMAN CRLF3 Cytokine receptor-like factor 3 442 49.8 17 Cytoplasm 0 0 0 1 5 2007-05-29 Q8IUK5 PLDX1_HUMAN PLXDC1 Plexin domain-containing protein 1 500 55.8 17 Secreted 1 0 0 1 5 2006-04-18 Q8IUR5 TMTC1_HUMAN TMTC1 Protein O-mannosyl-transferase TMTC1 882 98.8 12 2.4.1.109 Membrane; Endoplasmic reticulum 11 0 0 1 5 2007-03-20 Q8IUX1 T126B_HUMAN TMEM126B Complex I assembly factor TMEM126B, mitochondrial 230 25.9 11 Mitochondrion membrane 4 1 Mitochondrial complex I deficiency, nuclear type 29 0 1 5 2007-03-20 Q8IV04 TB10C_HUMAN TBC1D10C Carabin 446 49.7 11 0 0 0 1 5 2007-04-17 Q8IV20 LACC1_HUMAN LACC1 Purine nucleoside phosphorylase LACC1 430 47.8 13 2.4.2.1 Cytoplasm; Nucleus; Endoplasmic reticulum; Peroxisome 0 1 Juvenile arthritis 0 1 5 2003-06-20 Q8IV31 TM139_HUMAN TMEM139 Transmembrane protein 139 216 23.7 7 Membrane 1 0 0 1 5 2007-05-01 Q8IV45 UN5CL_HUMAN UNC5CL UNC5C-like protein 518 57.8 6 Membrane; Cytoplasm 1 0 0 1 5 2007-11-13 Q8IVL6 P3H3_HUMAN P3H3 Prolyl 3-hydroxylase 3 736 81.8 12 1.14.11.7 Endoplasmic reticulum 0 0 0 1 5 2006-06-27 Q8IW00 VSTM4_HUMAN VSTM4 V-set and transmembrane domain-containing protein 4 320 36.1 10 Cell membrane 1 0 0 1 5 2007-02-06 Q8IW45 NNRD_HUMAN NAXD ATP-dependent (S)-NAD(P)H-hydrate dehydratase 347 36.6 13 4.2.1.93 Mitochondrion 0 1 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 0 1 5 2008-05-20 Q8IWC1 MA7D3_HUMAN MAP7D3 MAP7 domain-containing protein 3 876 98.4 X Cytoplasm 0 0 0 1 5 2007-10-02 Q8IWF2 FXRD2_HUMAN FOXRED2 FAD-dependent oxidoreductase domain-containing protein 2 684 77.8 22 Endoplasmic reticulum lumen 0 0 0 1 5 2008-05-20 Q8IX19 MCEM1_HUMAN MCEMP1 Mast cell-expressed membrane protein 1 187 21.2 19 Membrane 1 0 0 1 5 2007-01-23 Q8IX30 SCUB3_HUMAN SCUBE3 Signal peptide, CUB and EGF-like domain-containing protein 3 993 109.3 6 Secreted; Cell surface 0 1 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 0 1 5 2006-10-03 Q8IXB1 DJC10_HUMAN DNAJC10 Endoplasmic reticulum disulfide reductase DNAJC10 793 91.1 2 1.8.4.2 Endoplasmic reticulum lumen 0 0 0 1 5 2007-04-03 Q8IXK0 PHC2_HUMAN PHC2 Polyhomeotic-like protein 2 858 90.7 1 Nucleus 0 0 0 1 5 2006-01-10 Q8IXM6 NRM_HUMAN NRM Nurim 262 29.4 6 Nucleus inner membrane 6 0 0 1 5 2007-09-11 Q8IY33 MILK2_HUMAN MICALL2 MICAL-like protein 2 904 97.5 7 Cell membrane; Cell junction; Recycling endosome; Cell projection; Cytoplasm 0 0 0 1 5 2004-04-13 Q8IY49 PAQRA_HUMAN MMD2 Monocyte to macrophage differentiation factor 2 270 31.3 7 Golgi apparatus membrane 7 0 0 1 5 2004-08-31 Q8IYF1 ELOA2_HUMAN ELOA2 Elongin-A2 753 83.9 18 Nucleus 0 0 0 1 5 2003-07-11 Q8IYJ3 SYTL1_HUMAN SYTL1 Synaptotagmin-like protein 1 562 61.9 1 Cell membrane 0 0 0 1 5 2003-07-25 Q8IYK4 GT252_HUMAN COLGALT2 Procollagen galactosyltransferase 2 626 72.9 1 2.4.1.50 Endoplasmic reticulum lumen 0 0 0 1 5 2007-11-13 Q8IZD4 DCP1B_HUMAN DCP1B mRNA-decapping enzyme 1B 617 67.7 12 3.6.1.62 Cytoplasm; Nucleus 0 0 0 1 5 2005-03-01 Q8IZJ1 UNC5B_HUMAN UNC5B Netrin receptor UNC5B 945 103.6 10 Cell membrane; Membrane raft 1 0 0 1 5 2004-10-11 Q8IZN3 ZDH14_HUMAN ZDHHC14 Palmitoyltransferase ZDHHC14 488 53.4 6 2.3.1.225 Endoplasmic reticulum membrane; Golgi apparatus 4 0 0 1 5 2003-10-24 Q8IZP9 AGRG2_HUMAN ADGRG2 Adhesion G protein-coupled receptor G2 1017 111.6 X Apical cell membrane 7 1 Congenital bilateral aplasia of the vas deferens, X-linked 0 1 5 2004-03-29 Q8IZS8 CA2D3_HUMAN CACNA2D3 Voltage-dependent calcium channel subunit alpha-2/delta-3 1091 123 3 Membrane 1 0 0 1 5 2007-09-11 Q8IZU1 FAM9A_HUMAN FAM9A Protein FAM9A 332 37.3 X Nucleus 0 0 0 1 5 2003-03-25 Q8N0X2 SPG16_HUMAN SPAG16 Sperm-associated antigen 16 protein 631 70.8 2 Cytoplasm; Cell projection 0 0 0 1 5 2005-04-26 Q8N0Z3 SPICE_HUMAN SPICE1 Spindle and centriole-associated protein 1 855 96.3 3 Cytoplasm 0 0 0 1 5 2007-04-03 Q8N108 MIER1_HUMAN MIER1 Mesoderm induction early response protein 1 512 58 1 Nucleus 0 0 0 1 5 2005-11-22 Q8N130 NPT2C_HUMAN SLC34A3 Sodium-dependent phosphate transport protein 2C 599 63.6 9 Apical cell membrane 8 1 Hereditary hypophosphatemic rickets with hypercalciuria 0 1 5 2005-12-20 Q8N140 EID3_HUMAN EID3 EP300-interacting inhibitor of differentiation 3 333 38.2 12 Nucleus; Cytoplasm; Chromosome 0 0 0 1 5 2008-01-15 Q8N144 CXD3_HUMAN GJD3 Gap junction delta-3 protein 294 31.9 17 Cell membrane; Cell junction 4 0 0 1 5 2008-01-15 Q8N196 SIX5_HUMAN SIX5 Homeobox protein SIX5 739 74.6 19 Cytoplasm; Nucleus 0 1 Branchiootorenal syndrome 2 0 1 5 2004-04-13 Q8N1F8 S11IP_HUMAN STK11IP Serine/threonine-protein kinase 11-interacting protein 1088 120.3 2 Cytoplasm 0 0 0 1 5 2008-02-05 Q8N1G1 REXO1_HUMAN REXO1 RNA exonuclease 1 homolog 1221 131.5 19 3.1.-.- Nucleus 0 0 0 1 5 2006-05-30 Q8N271 PROM2_HUMAN PROM2 Prominin-2 834 91.9 2 Apical cell membrane; Basolateral cell membrane; Cell projection 5 0 0 1 5 2008-04-29 Q8N2E6 TOR2X_HUMAN TOR2A Prosalusin 242 26.3 9 Secreted 0 0 0 1 5 2006-03-21 Q8N2K0 ABD12_HUMAN ABHD12 Lysophosphatidylserine lipase ABHD12 398 45.1 20 3.1.1.- Endoplasmic reticulum membrane 1 1 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 1 5 2003-11-28 Q8N2R0 OSR2_HUMAN OSR2 Protein odd-skipped-related 2 312 35.5 8 Nucleus 0 0 0 1 5 2006-01-24 Q8N307 MUC20_HUMAN MUC20 Mucin-20 709 72 3 Secreted; Apical cell membrane; Basolateral cell membrane; Cell projection 0 0 0 1 5 2008-02-05 Q8N339 MT1M_HUMAN MT1M Metallothionein-1M 61 6.1 16 0 0 0 1 5 2006-02-07 Q8N357 S35F6_HUMAN SLC35F6 Solute carrier family 35 member F6 371 40.2 2 Mitochondrion; Lysosome membrane 9 0 0 1 5 2006-04-18 Q8N3E9 PLCD3_HUMAN PLCD3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 789 89.3 17 3.1.4.11 Cell membrane; Cytoplasm; Cleavage furrow 0 0 0 1 5 2007-10-02 Q8N3L3 TXLNB_HUMAN TXLNB Beta-taxilin 684 76.5 6 0 0 0 1 5 2004-11-09 Q8N3Z6 ZCHC7_HUMAN ZCCHC7 Zinc finger CCHC domain-containing protein 7 543 63.1 9 Nucleus 0 0 0 1 5 2005-06-07 Q8N4L2 PP4P2_HUMAN PIP4P2 Type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase 257 28.1 8 3.1.3.78 Late endosome membrane; Lysosome membrane; Cytoplasmic vesicle; Cell membrane 2 0 0 1 5 2006-05-16 Q8N554 ZN276_HUMAN ZNF276 Zinc finger protein 276 614 67.2 16 Nucleus; Chromosome 0 0 0 1 5 2004-07-05 Q8N5D6 GBGT1_HUMAN GBGT1 Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 347 40.1 9 2.4.1.- Golgi apparatus membrane 1 0 0 1 5 2005-05-10 Q8N5G2 MACOI_HUMAN MACO1 Macoilin 664 76.2 1 Nucleus membrane; Cell projection; Rough endoplasmic reticulum membrane 4 0 0 1 5 2006-02-07 Q8N5U6 RNF10_HUMAN RNF10 E3 ubiquitin-protein ligase RNF10 811 89.9 12 2.3.2.27 Cytoplasm; Nucleus 0 0 0 1 5 2006-10-31 Q8N6G6 ATL1_HUMAN ADAMTSL1 ADAMTS-like protein 1 1762 193.4 9 Secreted 0 0 0 1 5 2003-10-31 Q8N6I1 EID2_HUMAN EID2 EP300-interacting inhibitor of differentiation 2 236 25.2 19 Nucleus 0 0 0 1 5 2008-01-15 Q8N6M0 OTU6B_HUMAN OTUD6B Deubiquitinase OTUD6B 293 33.8 8 3.4.19.12 0 1 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0 1 5 2006-01-24 Q8N6M6 AMPO_HUMAN AOPEP Aminopeptidase O 819 93.6 9 3.4.11.- Nucleus 0 1 Dystonia 31 0 1 5 2005-03-15 Q8N715 CC185_HUMAN CCDC185 Coiled-coil domain-containing protein 185 623 72.3 1 0 0 0 1 5 2006-07-25 Q8N726 ARF_HUMAN CDKN2A Tumor suppressor ARF 132 13.9 9 Nucleus 0 0 0 1 5 2005-10-11 Q8N752 KC1AL_HUMAN CSNK1A1L Casein kinase I isoform alpha-like 337 39.1 13 2.7.11.1 Cytoplasm 0 0 0 1 5 2004-05-10 Q8N7C0 LRC52_HUMAN LRRC52 Leucine-rich repeat-containing protein 52 313 35.1 1 Cell membrane 1 0 0 1 5 2006-03-07 Q8N7C3 TRIMM_HUMAN TRIML2 Probable E3 ubiquitin-protein ligase TRIML2 437 49.9 4 2.3.2.27 0 0 0 1 5 2008-02-05 Q8N865 SMIP4_HUMAN SPMIP4 Sperm-associated microtubule inner protein 4 590 68.5 7 Cytoplasm 0 0 0 1 5 2005-07-05 Q8N895 ZN366_HUMAN ZNF366 Zinc finger protein 366 744 85.1 5 Nucleus 0 0 0 1 5 2003-02-12 Q8N8B7 TEANC_HUMAN TCEANC Transcription elongation factor A N-terminal and central domain-containing protein 351 40.2 X 0 0 0 1 5 2006-10-31 Q8N8E2 ZN513_HUMAN ZNF513 Zinc finger protein 513 541 57.9 2 Nucleus 0 1 Retinitis pigmentosa 58 0 1 5 2004-11-23 Q8N8N0 RN152_HUMAN RNF152 E3 ubiquitin-protein ligase RNF152 203 22.4 18 2.3.2.27 Lysosome membrane 1 0 0 1 5 2004-01-16 Q8N8W4 PLPL1_HUMAN PNPLA1 Omega-hydroxyceramide transacylase 532 57.9 6 2.3.1.296 Cytoplasm 0 1 Ichthyosis, congenital, autosomal recessive 10 0 1 5 2007-06-26 Q8N8Y2 VA0D2_HUMAN ATP6V0D2 V-type proton ATPase subunit d 2 350 40.4 8 0 0 0 1 5 2007-05-01 Q8N9I9 DTX3_HUMAN DTX3 E3 ubiquitin-protein ligase DTX3 347 38 12 2.3.2.27 Cytoplasm; Nucleus 0 0 0 1 5 2003-09-26 Q8NC24 RELL2_HUMAN RELL2 RELT-like protein 2 303 32.4 5 Cell membrane 1 0 0 1 5 2006-09-19 Q8NC67 NETO2_HUMAN NETO2 Neuropilin and tolloid-like protein 2 525 59.4 16 Membrane 1 0 0 1 5 2005-02-15 Q8NC69 KCTD6_HUMAN KCTD6 BTB/POZ domain-containing protein KCTD6 237 27.6 3 Cytoplasm 0 0 0 1 5 2006-10-03 Q8NCS7 CTL5_HUMAN SLC44A5 Choline transporter-like protein 5 719 81.7 1 Cell membrane 10 0 0 1 5 2005-08-30 Q8NCU1 CC197_HUMAN CCDC197 Uncharacterized protein CCDC197 143 16.1 14 0 0 0 1 5 2003-04-23 Q8ND83 SLAI1_HUMAN SLAIN1 SLAIN motif-containing protein 1 568 60.6 13 Cytoplasm 0 0 0 1 5 2008-02-05 Q8ND90 PNMA1_HUMAN PNMA1 Paraneoplastic antigen Ma1 353 39.8 14 Nucleus 0 0 0 1 5 2003-10-24 Q8NDC0 MISSL_HUMAN MAPK1IP1L MAPK-interacting and spindle-stabilizing protein-like 245 24.3 14 0 0 0 1 5 2003-07-11 Q8NDG6 TDRD9_HUMAN TDRD9 ATP-dependent RNA helicase TDRD9 1382 155.7 14 3.6.4.13 Cytoplasm; Nucleus 0 1 Spermatogenic failure 30 0 1 5 2008-05-20 Q8NDN9 RCBT1_HUMAN RCBTB1 RCC1 and BTB domain-containing protein 1 531 58.3 13 Nucleus 0 1 Retinal dystrophy with or without extraocular anomalies 0 1 5 2005-12-20 Q8NDX1 PSD4_HUMAN PSD4 PH and SEC7 domain-containing protein 4 1056 116.2 2 Cell membrane; Cell projection 0 0 0 1 5 2006-10-03 Q8NE79 POPD1_HUMAN POPDC1 Popeye domain-containing protein 1 360 41.5 6 Lateral cell membrane; Cell junction; Membrane; Cell membrane 3 1 Muscular dystrophy, limb-girdle, autosomal recessive 25 0 1 5 2003-10-31 Q8NEG0 GAR6_HUMAN GARIN6 Golgi-associated RAB2 interactor protein 6 241 27.5 12 0 0 0 1 5 2006-12-12 Q8NEM8 CBPC3_HUMAN AGBL3 Cytosolic carboxypeptidase 3 1001 116 7 3.4.17.- Cytoplasm 0 0 0 2 5 2007-04-03 Q8NER5 ACV1C_HUMAN ACVR1C Activin receptor type-1C 493 54.9 2 2.7.11.30 Membrane 1 0 0 1 5 2005-10-25 Q8NF37 PCAT1_HUMAN LPCAT1 Lysophosphatidylcholine acyltransferase 1 534 59.2 5 2.3.1.23 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell membrane; Lipid droplet 1 0 0 1 5 2006-07-25 Q8NFF2 NCKX4_HUMAN SLC24A4 Sodium/potassium/calcium exchanger 4 622 69 14 Cell membrane; Cytoplasm 10 1 Amelogenesis imperfecta, hypomaturation type, 2A5 0 1 5 2003-09-26 Q8NFL0 B3GN7_HUMAN B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 401 46 2 2.4.1.- Golgi apparatus membrane 1 0 0 1 5 2006-12-12 Q8NFV4 ABHDB_HUMAN ABHD11 sn-1-specific diacylglycerol lipase ABHD11 306 33.7 7 3.1.1.116 Mitochondrion; Mitochondrion matrix 0 0 0 1 5 2007-03-20 Q8NFY9 KBTB8_HUMAN KBTBD8 Kelch repeat and BTB domain-containing protein 8 601 68.8 3 Cytoplasm; Golgi apparatus 0 0 0 1 5 2007-02-20 Q8NFZ8 CADM4_HUMAN CADM4 Cell adhesion molecule 4 388 42.8 19 Cell membrane; Golgi apparatus membrane 1 0 0 1 5 2007-06-26 Q8NG11 TSN14_HUMAN TSPAN14 Tetraspanin-14 270 30.7 10 Cell membrane 4 0 0 1 5 2004-11-23 Q8NG50 RDM1_HUMAN RDM1 RAD52 motif-containing protein 1 284 32 17 Nucleus; Cytoplasm 0 0 0 1 5 2007-09-11 Q8NHK3 KI2LB_HUMAN KIR2DL5B Killer cell immunoglobulin-like receptor 2DL5B 375 40.7 Cell membrane 1 0 0 2 5 2007-09-11 Q8NHP1 ARK74_HUMAN AKR7L Aflatoxin B1 aldehyde reductase member 4 331 37 1.-.-.- 0 0 0 1 5 2003-12-15 Q8NHP8 PLBL2_HUMAN PLBD2 Putative aminopeptidase PLBD2 589 65.5 12 3.4.11.- Lysosome lumen 0 0 0 1 5 2007-05-01 Q8NHQ9 DDX55_HUMAN DDX55 ATP-dependent RNA helicase DDX55 600 68.5 12 3.6.4.13 Nucleus 0 0 0 1 5 2006-10-03 Q8NHS3 MFSD8_HUMAN MFSD8 Major facilitator superfamily domain-containing protein 8 518 57.6 4 Endosome membrane; Lysosome membrane 12 2 Ceroid lipofuscinosis, neuronal, 7; Macular dystrophy with central cone involvement 0 1 5 2007-11-13 Q8NHV9 RHXF1_HUMAN RHOXF1 Rhox homeobox family member 1 184 20.5 X Nucleus 0 0 0 1 5 2003-10-03 Q8NHY0 B4GN2_HUMAN B4GALNT2 N-acetylneuraminylgalactosylglucosyl-glucoside beta-1,4-N- acetylgalactosaminyltransferase 2 566 63.3 17 Golgi apparatus; Cytoplasmic vesicle membrane 1 1 Sd(a) polyagglutination syndrome 0 1 5 2006-01-24 Q8NI37 PPTC7_HUMAN PPTC7 Protein phosphatase PTC7 homolog 304 32.6 12 3.1.3.16 Mitochondrion matrix 0 0 0 1 5 2008-04-08 Q8TA86 RP9_HUMAN RP9 Retinitis pigmentosa 9 protein 221 26.1 7 Nucleus 0 1 Retinitis pigmentosa 9 0 1 5 2003-11-14 Q8TAB5 CA216_HUMAN C1orf216 UPF0500 protein C1orf216 229 25 1 0 0 0 1 5 2007-11-13 Q8TAM6 ERMIN_HUMAN ERMN Ermin 284 32.8 2 Cytoplasm 0 0 0 1 5 2008-01-15 Q8TAP4 LMO3_HUMAN LMO3 LIM domain only protein 3 145 16.6 12 0 0 0 1 5 2003-08-15 Q8TBB6 S7A14_HUMAN SLC7A14 Solute carrier family 7 member 14 771 84.1 3 Lysosome membrane 15 1 Retinitis pigmentosa 68 0 1 5 2007-10-23 Q8TBC5 ZSC18_HUMAN ZSCAN18 Zinc finger and SCAN domain-containing protein 18 510 54.8 19 Nucleus 0 0 0 1 5 2006-06-27 Q8TBE7 S35G2_HUMAN SLC35G2 Solute carrier family 35 member G2 412 46.4 3 Cell membrane; Cytoplasmic vesicle 10 0 0 1 5 2006-06-27 Q8TBF2 PXL2B_HUMAN PRXL2B Prostamide/prostaglandin F synthase 198 21.2 1 1.11.1.20 Cytoplasm 0 0 0 1 5 2007-04-17 Q8TBY8 PMFBP_HUMAN PMFBP1 Polyamine-modulated factor 1-binding protein 1 1007 117.5 16 Cell projection 0 1 Spermatogenic failure 31 0 1 5 2007-09-11 Q8TC05 SAXO6_HUMAN SAXO6 Stabilizer of axonemal microtubules 6 714 80.7 12 Nucleus; Cytoplasm 0 0 0 1 5 2007-08-21 Q8TC26 TM163_HUMAN TMEM163 Transmembrane protein 163 289 31.5 2 Cytoplasmic vesicle; Early endosome membrane; Late endosome membrane; Lysosome membrane; Cell membrane 6 1 Leukodystrophy, hypomyelinating, 25 0 1 5 2007-02-20 Q8TC57 M1AP_HUMAN M1AP Meiosis 1 arrest protein 530 59.4 2 Cytoplasm 0 1 Spermatogenic failure 48 0 1 5 2008-09-02 Q8TC84 FANK1_HUMAN FANK1 Fibronectin type 3 and ankyrin repeat domains protein 1 345 38.3 10 Nucleus; Cytoplasm; Cell projection 0 0 0 1 5 2005-04-26 Q8TCD1 CR032_HUMAN C18orf32 UPF0729 protein C18orf32 76 8.7 18 Endoplasmic reticulum; Lipid droplet 0 1 Glycosylphosphatidylinositol biosynthesis defect 25 0 1 5 2008-02-26 Q8TCJ0 FBX25_HUMAN FBXO25 F-box only protein 25 367 43.3 8 Nucleus 0 0 0 1 5 2003-05-09 Q8TCT1 PHOP1_HUMAN PHOSPHO1 Phosphoethanolamine/phosphocholine phosphatase 267 29.7 17 3.1.3.75 Extracellular vesicle 0 0 0 1 5 2006-01-10 Q8TCU4 ALMS1_HUMAN ALMS1 Centrosome-associated protein ALMS1 4168 461.1 2 Cytoplasm 0 1 Alstrom syndrome 0 1 5 2006-03-07 Q8TCZ2 C99L2_HUMAN CD99L2 CD99 antigen-like protein 2 262 28 X Cell membrane; Cell junction; Secreted 1 0 0 1 5 2008-06-10 Q8TD07 RAE1E_HUMAN RAET1E Retinoic acid early transcript 1E 263 30.1 6 Membrane 1 0 0 1 5 2004-05-24 Q8TD08 MK15_HUMAN MAPK15 Mitogen-activated protein kinase 15 544 59.8 8 2.7.11.24 Cytoplasm; Cell junction; Cytoplasmic vesicle; Golgi apparatus; Nucleus 0 0 0 1 5 2006-04-18 Q8TD22 SFXN5_HUMAN SFXN5 Sideroflexin-5 340 37.1 2 Mitochondrion inner membrane 4 0 0 1 5 2003-05-09 Q8TD23 ZN675_HUMAN ZNF675 Zinc finger protein 675 568 66.3 19 Nucleus 0 0 0 1 5 2007-09-11 Q8TDB4 HUMMR_HUMAN MGARP Protein MGARP 240 25.4 4 Mitochondrion; Mitochondrion outer membrane; Mitochondrion inner membrane 1 0 0 1 5 2008-02-26 Q8TDN2 KCNV2_HUMAN KCNV2 Potassium voltage-gated channel subfamily V member 2 545 62.5 9 Cell membrane 6 1 Cone dystrophy with supernormal rod responses 0 1 5 2002-11-28 Q8TDT2 GP152_HUMAN GPR152 Probable G protein-coupled receptor 152 470 51 11 Cell membrane 7 0 0 1 5 2004-06-07 Q8TE56 ATS17_HUMAN ADAMTS17 A disintegrin and metalloproteinase with thrombospondin motifs 17 1095 121.1 15 3.4.24.- Secreted 0 1 Weill-Marchesani syndrome 4 0 1 5 2003-02-28 Q8TED9 AF1L1_HUMAN AFAP1L1 Actin filament-associated protein 1-like 1 768 86.4 5 Cytoplasm; Cell projection 0 0 0 1 5 2007-07-24 Q8TER5 ARH40_HUMAN ARHGEF40 Rho guanine nucleotide exchange factor 40 1519 164.7 14 Cytoplasm; Cell junction 0 0 0 1 5 2008-01-15 Q8TES7 FBF1_HUMAN FBF1 Fas-binding factor 1 1133 125.4 17 Cytoplasm; Cell junction 0 0 0 1 5 2007-08-21 Q8TF05 PP4R1_HUMAN PPP4R1 Serine/threonine-protein phosphatase 4 regulatory subunit 1 950 107 18 0 0 0 1 5 2004-03-01 Q8TF17 S3TC2_HUMAN SH3TC2 SH3 domain and tetratricopeptide repeat-containing protein 2 1288 144.8 5 Cell membrane; Recycling endosome 0 2 Charcot-Marie-Tooth disease, demyelinating, type 4C; Mononeuropathy of the median nerve mild 0 1 5 2004-04-13 Q8TF62 AT8B4_HUMAN ATP8B4 Probable phospholipid-transporting ATPase IM 1192 135.9 15 7.6.2.1 Cell membrane; Golgi apparatus 10 0 0 1 5 2003-04-30 Q8WTR4 GDE2_HUMAN GDPD5 Glycerophosphodiester phosphodiesterase 2 605 68.6 11 3.1.4.- Cell membrane; Membrane raft; Cell projection 6 0 0 1 5 2006-10-03 Q8WU66 TSEAR_HUMAN TSPEAR Thrombospondin-type laminin G domain and EAR repeat-containing protein 669 74.9 21 Secreted; Cell surface; Cell projection 0 3 Deafness, autosomal recessive, 98; Ectodermal dysplasia 14, hypohidrotic/hair/tooth/nail type; Tooth agenesis, selective, 10 0 1 5 2002-11-28 Q8WUH2 TGFA1_HUMAN TGFBRAP1 Transforming growth factor-beta receptor-associated protein 1 860 97.2 2 Cytoplasm; Early endosome 0 0 0 1 5 2008-07-22 Q8WUJ3 CEMIP_HUMAN CEMIP Cell migration-inducing and hyaluronan-binding protein 1361 153 15 3.2.1.35 Nucleus; Cytoplasm; Endoplasmic reticulum; Cell membrane; Membrane; Secreted 0 0 0 1 5 2004-04-13 Q8WUU4 ZN296_HUMAN ZNF296 Zinc finger protein 296 475 50.8 19 Nucleus 0 0 0 1 5 2002-09-19 Q8WV19 SFT2A_HUMAN SFT2D1 Vesicle transport protein SFT2A 159 17.8 6 Membrane 4 0 0 1 5 2006-05-30 Q8WVF1 OSCP1_HUMAN OSCP1 Protein OSCP1 389 44.6 1 Basal cell membrane 0 0 0 1 5 2006-10-03 Q8WVT3 TPC12_HUMAN TRAPPC12 Trafficking protein particle complex subunit 12 735 79.4 2 Endoplasmic reticulum-Golgi intermediate compartment; Nucleus 0 1 Encephalopathy, progressive, early-onset, with brain atrophy and spasticity 0 1 5 2004-02-16 Q8WW34 TM239_HUMAN TMEM239 Transmembrane protein 239 195 21.8 20 Membrane 2 0 0 1 5 2011-10-19 Q8WWK9 CKAP2_HUMAN CKAP2 Cytoskeleton-associated protein 2 683 77 13 Cytoplasm 0 0 0 1 5 2006-07-11 Q8WWX8 SC5AB_HUMAN SLC5A11 Sodium/myo-inositol cotransporter 2 675 74 16 Membrane; Apical cell membrane 14 0 0 1 5 2008-04-29 Q8WWX9 SELM_HUMAN SELENOM Selenoprotein M 145 16.2 22 Cytoplasm; Endoplasmic reticulum; Golgi apparatus 0 0 0 1 5 2003-01-17 Q8WWZ3 EDAD_HUMAN EDARADD Ectodysplasin-A receptor-associated adapter protein 215 24.8 1 Cytoplasm 0 2 Ectodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 0 1 5 2002-06-06 Q8WWZ4 ABCAA_HUMAN ABCA10 ATP-binding cassette sub-family A member 10 1543 175.8 17 7.6.2.- Membrane 15 0 0 1 5 2006-10-17 Q8WXI9 P66B_HUMAN GATAD2B Transcriptional repressor p66-beta 593 65.3 1 Nucleus speckle; Nucleus; Chromosome 0 1 Gand syndrome 0 1 5 2004-07-19 Q8WXK1 ASB15_HUMAN ASB15 Ankyrin repeat and SOCS box protein 15 588 65.8 7 0 0 0 1 5 2002-05-10 Q8WXU2 DAAF4_HUMAN DNAAF4 Dynein axonemal assembly factor 4 420 48.5 15 Nucleus; Cytoplasm; Dynein axonemal particle; Cell projection 0 2 Dyslexia 1; Ciliary dyskinesia, primary, 25 0 1 5 2003-11-21 Q8WXW3 PIBF1_HUMAN PIBF1 Progesterone-induced-blocking factor 1 757 89.8 13 Cytoplasm; Secreted 0 1 Joubert syndrome 33 0 1 5 2003-02-22 Q8WY07 CTR3_HUMAN SLC7A3 Cationic amino acid transporter 3 619 67.2 X Cell membrane 14 0 0 1 5 2004-01-16 Q8WY36 BBX_HUMAN BBX HMG box transcription factor BBX 941 105.1 3 Nucleus 0 0 0 1 5 2006-04-18 Q8WY98 TM234_HUMAN TMEM234 Transmembrane protein 234 164 17.6 1 Membrane 3 0 0 1 5 2007-09-11 Q8WYR1 PI3R5_HUMAN PIK3R5 Phosphoinositide 3-kinase regulatory subunit 5 880 97.3 17 Nucleus; Cytoplasm; Cell membrane 0 1 Ataxia-oculomotor apraxia 3 0 1 5 2005-12-06 Q8WZ04 TOMT_HUMAN TOMT Transmembrane O-methyltransferase 291 32.2 11 2.1.1.6 Membrane 1 1 Deafness, autosomal recessive, 63 0 1 5 2008-11-25 Q8WZA2 RPGF4_HUMAN RAPGEF4 Rap guanine nucleotide exchange factor 4 1011 115.5 2 Cytoplasm; Membrane 0 0 0 1 5 2003-06-20 Q92482 AQP3_HUMAN AQP3 Aquaporin-3 292 31.5 9 Cell membrane; Basolateral cell membrane 6 0 0 1 5 1997-11-01 Q92523 CPT1B_HUMAN CPT1B Carnitine O-palmitoyltransferase 1, muscle isoform 772 87.8 22 2.3.1.21 Mitochondrion outer membrane 2 0 0 1 5 1997-11-01 Q92526 TCPW_HUMAN CCT6B Probable T-complex protein 1 subunit zeta-2 530 57.8 17 3.6.1.- Cytoplasm 0 0 0 1 5 1997-11-01 Q92535 PIGC_HUMAN PIGC Phosphatidylinositol N-acetylglucosaminyltransferase subunit C 297 33.6 1 Endoplasmic reticulum membrane 8 1 Glycosylphosphatidylinositol biosynthesis defect 16 0 1 5 2001-07-11 Q92569 P55G_HUMAN PIK3R3 Phosphatidylinositol 3-kinase regulatory subunit gamma 461 54.4 1 0 0 0 1 5 2000-12-01 Q92611 EDEM1_HUMAN EDEM1 ER degradation-enhancing alpha-mannosidase-like protein 1 657 73.8 3 Endoplasmic reticulum membrane 1 0 0 1 5 2001-11-16 Q92629 SGCD_HUMAN SGCD Delta-sarcoglycan 289 32.1 5 Cell membrane; Cytoplasm 1 2 Muscular dystrophy, limb-girdle, autosomal recessive 6; Cardiomyopathy, dilated, 1L 0 1 5 2001-04-27 Q92686 NEUG_HUMAN NRGN Neurogranin 78 7.6 11 0 0 0 1 5 1997-11-01 Q92750 TAF4B_HUMAN TAF4B Transcription initiation factor TFIID subunit 4B 862 91.1 18 Nucleus; Cytoplasm 0 1 Spermatogenic failure 13 0 1 5 1998-07-15 Q92764 KRT35_HUMAN KRT35 Keratin, type I cuticular Ha5 455 50.4 17 0 0 0 1 5 1998-07-15 Q92765 SFRP3_HUMAN FRZB Secreted frizzled-related protein 3 325 36.3 2 Secreted 0 1 Osteoarthritis 1 0 1 5 2001-06-01 Q92824 PCSK5_HUMAN PCSK5 Proprotein convertase subtilisin/kexin type 5 1860 206.9 9 3.4.21.- Secreted 1 0 0 1 5 2001-01-11 Q92845 KIFA3_HUMAN KIFAP3 Kinesin-associated protein 3 792 91.2 1 0 0 0 1 5 2002-05-10 Q92908 GATA6_HUMAN GATA6 Transcription factor GATA-6 595 60 18 Nucleus 0 5 Conotruncal heart malformations; Atrial septal defect 9; Tetralogy of Fallot; Atrioventricular septal defect 5; Pancreatic agenesis and congenital heart defects 0 1 5 1997-11-01 Q92911 SC5A5_HUMAN SLC5A5 Sodium/iodide cotransporter 643 68.7 19 Cell membrane; Cytoplasm 13 1 Thyroid dyshormonogenesis 1 0 1 5 2001-01-24 Q92952 KCNN1_HUMAN KCNN1 Small conductance calcium-activated potassium channel protein 1 543 60 19 Membrane; Cytoplasm 6 0 0 1 5 2001-11-16 Q92953 KCNB2_HUMAN KCNB2 Potassium voltage-gated channel subfamily B member 2 911 102.6 8 Cell membrane; Perikaryon; Cell projection 6 0 0 1 5 1998-12-15 Q92954 PRG4_HUMAN PRG4 Proteoglycan 4 1404 151.1 1 Secreted 0 1 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 0 1 5 2005-12-06 Q92988 DLX4_HUMAN DLX4 Homeobox protein DLX-4 240 26.3 17 Nucleus 0 1 Non-syndromic orofacial cleft 15 0 1 5 1997-11-01 Q969L2 MAL2_HUMAN MAL2 Protein MAL2 176 19.1 8 Cell membrane; Apical cell membrane; Endomembrane system; Cytoplasm 4 0 0 1 5 2002-05-27 Q969P0 IGSF8_HUMAN IGSF8 Immunoglobulin superfamily member 8 613 65 1 Cell membrane 1 0 0 1 5 2006-03-07 Q969P5 FBX32_HUMAN FBXO32 F-box only protein 32 355 41.6 8 Cytoplasm; Nucleus 0 0 0 1 5 2002-04-16 Q969S0 S35B4_HUMAN SLC35B4 Nucleotide sugar transporter SLC35B4 331 37.4 7 Endoplasmic reticulum membrane 11 0 0 1 5 2005-11-22 Q969X5 ERGI1_HUMAN ERGIC1 Endoplasmic reticulum-Golgi intermediate compartment protein 1 290 32.6 5 Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus membrane 2 1 Arthrogryposis multiplex congenita 2, neurogenic type 0 1 5 2004-08-31 Q969Z4 TR19L_HUMAN RELT Tumor necrosis factor receptor superfamily member 19L 430 46.1 11 Cell membrane; Cytoplasm 1 1 Amelogenesis imperfecta 3C 0 1 5 2002-05-27 Q96A09 TET5B_HUMAN TENT5B Terminal nucleotidyltransferase 5B 425 46.7 1 2.7.7.19 Cytoplasm; Nucleus 0 0 0 1 5 2006-11-28 Q96A32 MYL11_HUMAN MYL11 Myosin regulatory light chain 11 169 19 16 0 1 Arthrogryposis, distal, 1C 0 1 5 2007-04-03 Q96A57 TM230_HUMAN TMEM230 Transmembrane protein 230 120 13.2 20 Membrane; Golgi apparatus; Cytoplasmic vesicle; Early endosome; Recycling endosome; Late endosome 2 1 Parkinson disease 0 1 5 2006-05-02 Q96A84 EMID1_HUMAN EMID1 EMI domain-containing protein 1 441 45.3 22 Secreted 0 0 0 1 5 2003-10-03 Q96AJ1 IFT38_HUMAN IFT38 Intraflagellar transport protein 38 413 48.1 16 Cell projection; Nucleus 0 0 0 1 5 2006-06-13 Q96AP7 ESAM_HUMAN ESAM Endothelial cell-selective adhesion molecule 390 41.2 11 Cell junction; Cell membrane 1 1 Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity 0 1 5 2005-06-21 Q96AW1 VOPP1_HUMAN VOPP1 WW domain binding protein VOPP1 172 19.2 7 Cytoplasmic vesicle membrane; Late endosome membrane; Lysosome membrane 1 0 0 1 5 2008-03-18 Q96AX9 MIB2_HUMAN MIB2 E3 ubiquitin-protein ligase MIB2 955 103.7 1 2.3.2.27 Cytoplasm; Endosome 0 0 0 1 5 2005-07-05 Q96B21 TM45B_HUMAN TMEM45B Transmembrane protein 45B 275 31.8 11 Endosome membrane; Lysosome membrane; Golgi apparatus 7 0 0 1 5 2007-01-09 Q96B77 TM186_HUMAN TMEM186 Transmembrane protein 186 213 24.9 16 Mitochondrion inner membrane 2 0 0 1 5 2007-03-06 Q96BD0 SO4A1_HUMAN SLCO4A1 Solute carrier organic anion transporter family member 4A1 722 77.2 20 Cell membrane 12 0 0 1 5 2003-01-10 Q96BF3 TMIG2_HUMAN TMIGD2 Transmembrane and immunoglobulin domain-containing protein 2 282 30.7 19 Cell membrane 1 0 0 1 5 2007-02-06 Q96BF6 NACC2_HUMAN NACC2 Nucleus accumbens-associated protein 2 587 62.8 9 Nucleus 0 0 0 1 5 2006-12-12 Q96BI1 S67A1_HUMAN SLC67A1 Solute carrier family 67 member A1 424 44.8 11 Apical cell membrane 10 2 Lung cancer; Rhabdomyosarcoma, embryonal, 1 0 1 5 2005-12-06 Q96BM1 ANKR9_HUMAN ANKRD9 Ankyrin repeat domain-containing protein 9 317 34.3 14 Cytoplasmic vesicle; Cytoplasm 0 0 0 1 5 2003-09-09 Q96BW5 PTER_HUMAN PTER N-acetyltaurine hydrolase 349 39 10 3.1.-.- Cytoplasm 0 0 0 1 5 2003-06-20 Q96C92 ENTR1_HUMAN ENTR1 Endosome-associated-trafficking regulator 1 435 48 9 Cytoplasm; Early endosome; Endosome; Recycling endosome; Midbody 0 0 0 1 5 2008-03-18 Q96CJ1 EAF2_HUMAN EAF2 ELL-associated factor 2 260 28.8 3 Nucleus speckle 0 0 0 1 5 2005-08-30 Q96CN4 EVI5L_HUMAN EVI5L EVI5-like protein 794 91.4 19 0 0 0 1 5 2006-12-12 Q96CP6 ASTRA_HUMAN GRAMD1A Protein Aster-A 724 80.7 19 Endoplasmic reticulum membrane; Cell membrane; Cytoplasmic vesicle 1 0 0 1 5 2007-05-15 Q96CP7 TLCD1_HUMAN TLCD1 TLC domain-containing protein 1 247 28.5 17 Cell membrane 4 0 0 1 5 2007-05-01 Q96D15 RCN3_HUMAN RCN3 Reticulocalbin-3 328 37.5 19 Endoplasmic reticulum lumen 0 0 0 1 5 2003-04-30 Q96D59 RN183_HUMAN RNF183 E3 ubiquitin-protein ligase RNF183 192 21.6 9 2.3.2.27 Endoplasmic reticulum membrane; Endoplasmic reticulum; Golgi apparatus; Lysosome membrane 1 0 0 1 5 2006-07-25 Q96D98 EID2B_HUMAN EID2B EP300-interacting inhibitor of differentiation 2B 161 17 19 Nucleus 0 0 0 1 5 2008-01-15 Q96DG6 CMBL_HUMAN CMBL Carboxymethylenebutenolidase homolog 245 28 5 3.1.-.- Cytoplasm 0 0 0 1 5 2007-10-23 Q96DX8 RTP4_HUMAN RTP4 Receptor-transporting protein 4 246 27.9 3 Membrane; Cytoplasm 1 0 0 1 5 2002-10-10 Q96EF6 FBX17_HUMAN FBXO17 F-box only protein 17 278 31.5 19 0 0 0 1 5 2002-05-27 Q96EG3 ZN837_HUMAN ZNF837 Zinc finger protein 837 531 58.1 19 Nucleus 0 0 0 1 5 2008-02-26 Q96EN8 MOCOS_HUMAN MOCOS Molybdenum cofactor sulfurase 888 98.1 18 2.8.1.9 0 1 Xanthinuria 2 0 1 5 2006-09-19 Q96EP9 NTCP4_HUMAN SLC10A4 Putative sodium/bile acid cotransporter 4 437 46.5 4 Cell membrane 7 0 0 1 5 2006-12-12 Q96ER9 MITOK_HUMAN CCDC51 Mitochondrial potassium channel 411 45.8 3 Mitochondrion inner membrane 2 0 0 1 5 2007-05-29 Q96EY9 ADAT3_HUMAN ADAT3 tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3 367 39.8 19 Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies 0 1 5 2007-05-15 Q96EZ8 MCRS1_HUMAN MCRS1 Microspherule protein 1 462 51.8 12 Nucleus; Cytoplasm; Chromosome; Lysosome 0 0 0 1 5 2002-11-01 Q96F45 ZN503_HUMAN ZNF503 Zinc finger protein 503 646 62.6 10 Nucleus 0 0 0 1 5 2007-06-26 Q96FC9 DDX11_HUMAN DDX11 ATP-dependent DNA helicase DDX11 970 108.3 12 5.6.2.3 Nucleus; Cytoplasm; Midbody 0 1 Warsaw breakage syndrome 0 1 5 2006-01-10 Q96FF9 CDCA5_HUMAN CDCA5 Sororin 252 27.6 11 Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 2005-07-05 Q96FG2 ELMD3_HUMAN ELMOD3 ELMO domain-containing protein 3 381 43 2 Cell projection; Cytoplasm 0 2 Deafness, autosomal recessive, 88; Deafness, autosomal dominant, 81 0 1 5 2007-02-06 Q96FL9 GLT14_HUMAN GALNT14 Polypeptide N-acetylgalactosaminyltransferase 14 552 64.3 2 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q96G23 CERS2_HUMAN CERS2 Ceramide synthase 2 380 44.9 1 Endoplasmic reticulum membrane 6 0 0 1 5 2004-08-16 Q96G42 KLD7B_HUMAN KLHDC7B Kelch domain-containing protein 7B 594 63.3 22 0 0 0 1 5 2006-03-21 Q96G46 DUS3L_HUMAN DUS3L tRNA-dihydrouridine(47) synthase [NAD(P)(+)]-like 650 72.6 19 1.3.1.89 0 0 0 1 5 2006-07-25 Q96GJ1 TRM2B_HUMAN TRMT2B tRNA (uracil-5-)-methyltransferase homolog B 504 56.5 X 2.1.1.35 Mitochondrion 0 0 0 1 5 2007-12-04 Q96GV9 MACIR_HUMAN MACIR Macrophage immunometabolism regulator 206 23.1 5 Cytoplasm; Cell projection 0 0 0 1 5 2008-02-05 Q96GW9 SYMM_HUMAN MARS2 Methionine--tRNA ligase, mitochondrial 593 66.6 2 6.1.1.10 Mitochondrion matrix 0 2 Spastic ataxia 3, autosomal recessive; Combined oxidative phosphorylation deficiency 25 0 1 5 2006-01-10 Q96HB5 CC120_HUMAN CCDC120 Coiled-coil domain-containing protein 120 630 67.6 X Cytoplasm; Cell projection; Endosome 0 0 0 1 5 2006-10-31 Q96HJ3 CCD34_HUMAN CCDC34 Coiled-coil domain-containing protein 34 373 43.2 11 Cell projection 0 1 Spermatogenic failure 76 0 1 5 2008-06-10 Q96HJ5 MS4A3_HUMAN MS4A3 Membrane-spanning 4-domains subfamily A member 3 214 22.9 11 Endomembrane system; Cytoplasm 4 0 0 1 5 2003-04-04 Q96HP0 DOCK6_HUMAN DOCK6 Dedicator of cytokinesis protein 6 2047 229.6 19 Cytoplasm 0 1 Adams-Oliver syndrome 2 0 1 5 2003-07-03 Q96I59 SYNM_HUMAN NARS2 Asparaginyl-tRNA synthetase 477 54.1 11 6.1.1.22 Mitochondrion matrix; Mitochondrion 0 2 Combined oxidative phosphorylation deficiency 24; Deafness, autosomal recessive, 94 0 1 5 2006-10-03 Q96IF1 AJUBA_HUMAN AJUBA LIM domain-containing protein ajuba 538 56.9 14 Cytoplasm; Cell membrane; Cell junction; Nucleus 0 0 0 1 5 2007-12-04 Q96IK1 BOD1_HUMAN BOD1 Biorientation of chromosomes in cell division protein 1 185 19.2 5 Cytoplasm; Chromosome 0 0 0 1 5 2005-11-22 Q96IQ9 ZN414_HUMAN ZNF414 Zinc finger protein 414 312 32.8 19 Nucleus 0 0 0 1 5 2006-06-27 Q96IS3 RAX2_HUMAN RAX2 Retina and anterior neural fold homeobox protein 2 184 20.1 19 Nucleus 0 3 Macular degeneration, age-related, 6; Cone-rod dystrophy 11; Retinitis pigmentosa 95 0 1 5 2007-05-01 Q96IZ2 ADTRP_HUMAN ADTRP Androgen-dependent TFPI-regulating protein 230 26.8 6 Cell membrane 6 0 0 1 5 2005-05-10 Q96IZ6 MET2A_HUMAN METTL2A tRNA N(3)-cytidine methyltransferase METTL2A 378 43.5 17 2.1.1.- Cytoplasm 0 0 0 1 5 2003-10-03 Q96J84 KIRR1_HUMAN KIRREL1 Kin of IRRE-like protein 1 757 83.5 1 Cell membrane 1 1 Nephrotic syndrome 23 0 1 5 2004-10-11 Q96JB8 MPP4_HUMAN MPP4 MAGUK p55 subfamily member 4 637 72.8 2 Cytoplasm 0 0 0 1 5 2003-01-10 Q96JG6 VPS50_HUMAN VPS50 Syndetin 964 111.2 7 Recycling endosome; Membrane 0 1 Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis 0 1 5 2007-10-23 Q96JK9 MAML3_HUMAN MAML3 Mastermind-like protein 3 1138 122.3 4 Nucleus speckle 0 0 0 1 5 2005-07-05 Q96JL9 ZN333_HUMAN ZNF333 Zinc finger protein 333 665 75.5 19 Nucleus 0 0 0 1 5 2002-02-21 Q96JS3 PGBD1_HUMAN PGBD1 PiggyBac transposable element-derived protein 1 809 92.5 6 Nucleus 0 0 0 1 5 2007-05-29 Q96K83 ZN521_HUMAN ZNF521 Zinc finger protein 521 1311 147.9 18 Nucleus 0 0 0 1 5 2007-10-02 Q96KG7 MEG10_HUMAN MEGF10 Multiple epidermal growth factor-like domains protein 10 1140 122.2 5 Cell membrane; Cell projection 1 2 Congenital myopathy 10A, severe variant; Congenital myopathy 10B, mild variant 0 1 5 2007-11-13 Q96KN3 PKNX2_HUMAN PKNOX2 Homeobox protein PKNOX2 472 52 11 Nucleus 0 0 0 1 5 2002-11-28 Q96KN8 PLAT5_HUMAN PLAAT5 Phospholipase A and acyltransferase 5 279 30.3 11 Cytoplasm 0 0 0 1 5 2002-01-31 Q96L42 KCNH8_HUMAN KCNH8 Voltage-gated delayed rectifier potassium channel KCNH8 1107 123.8 3 Membrane 6 0 0 1 5 2002-11-28 Q96LA5 FCRL2_HUMAN FCRL2 Fc receptor-like protein 2 508 55.5 1 Cell membrane 1 0 0 1 5 2005-06-21 Q96LA6 FCRL1_HUMAN FCRL1 Fc receptor-like protein 1 429 46.9 1 Cell membrane 1 0 0 1 5 2008-04-29 Q96LK0 CEP19_HUMAN CEP19 Centrosomal protein of 19 kDa 163 19.2 3 Cytoplasm 0 1 Morbid obesity and spermatogenic failure 0 1 5 2006-10-03 Q96LR2 LURA1_HUMAN LURAP1 Leucine rich adaptor protein 1 239 25.8 1 Cytoplasm 0 0 0 1 5 2007-01-09 Q96LR9 APLD1_HUMAN APOLD1 Apolipoprotein L domain-containing protein 1 279 30.5 12 Cell membrane; Cell junction; Cytoplasmic vesicle 3 1 Bleeding disorder, vascular-type 0 1 5 2006-07-25 Q96M86 DNHD1_HUMAN DNHD1 Dynein heavy chain domain-containing protein 1 4753 533.6 11 Cell projection 0 1 Spermatogenic failure 65 0 1 5 2007-12-04 Q96MA6 KAD8_HUMAN AK8 Adenylate kinase 8 479 54.9 9 2.7.4.3, 2.7.4.6 Cytoplasm 0 0 0 1 5 2007-03-06 Q96MM3 ZFP42_HUMAN ZFP42 Zinc finger protein 42 homolog 310 34.8 4 Nucleus 0 0 0 1 5 2007-05-15 Q96MX3 ZNF48_HUMAN ZNF48 Zinc finger protein 48 618 67.8 16 Nucleus 0 0 0 1 5 2006-05-16 Q96MY7 F161B_HUMAN FAM161B Protein FAM161B 647 73.6 14 0 0 0 1 5 2003-07-19 Q96N64 PWP2A_HUMAN PWWP2A PWWP domain-containing protein 2A 755 82 5 Nucleus 0 0 0 1 5 2007-11-13 Q96N76 HUTU_HUMAN UROC1 Urocanate hydratase 676 74.8 3 4.2.1.49 0 1 Urocanase deficiency 0 1 5 2002-08-13 Q96N96 SPT13_HUMAN SPATA13 Spermatogenesis-associated protein 13 652 74.8 13 Cytoplasm; Cell projection 0 0 0 1 5 2007-02-20 Q96NE9 FRMD6_HUMAN FRMD6 FERM domain-containing protein 6 622 72 14 Cytoplasm; Cell membrane 0 0 0 1 5 2003-08-15 Q96NR8 RDH12_HUMAN RDH12 Retinol dehydrogenase 12 316 35.1 14 1.1.1.300 Endoplasmic reticulum membrane 0 2 Leber congenital amaurosis 13; Retinitis pigmentosa 53 0 1 5 2003-08-29 Q96NT3 GUCD1_HUMAN GUCD1 Protein GUCD1 240 27.2 22 0 0 0 1 5 2005-07-19 Q96NZ1 FOXN4_HUMAN FOXN4 Forkhead box protein N4 517 55.2 12 Nucleus 0 0 0 1 5 2003-01-27 Q96P56 CTSR2_HUMAN CATSPER2 Cation channel sperm-associated protein 2 530 62 15 Cell projection 6 1 Deafness-infertility syndrome 0 1 5 2007-07-24 Q96PB7 NOE3_HUMAN OLFM3 Noelin-3 478 54.9 1 Secreted; Synapse 0 0 0 1 5 2002-01-23 Q96PC2 IP6K3_HUMAN IP6K3 Inositol hexakisphosphate kinase 3 410 46.4 6 2.7.4.21 Cytoplasm 0 0 0 1 5 2004-07-19 Q96PC5 MIA2_HUMAN MIA2 Melanoma inhibitory activity protein 2 1412 159.8 14 Endoplasmic reticulum membrane 1 0 0 1 5 2004-03-01 Q96PD6 MOGT1_HUMAN MOGAT1 2-acylglycerol O-acyltransferase 1 335 38.8 2 2.3.1.22 Endoplasmic reticulum membrane 3 0 0 2 5 2006-09-05 Q96PE1 AGRA2_HUMAN ADGRA2 Adhesion G protein-coupled receptor A2 1338 142.6 8 Cell membrane; Cell projection 7 0 0 1 5 2004-04-13 Q96PG8 BBC3B_HUMAN BBC3 Bcl-2-binding component 3, isoforms 3/4 261 26.5 19 0 0 0 1 5 2012-06-13 Q96PN7 TREF1_HUMAN TRERF1 Transcriptional-regulating factor 1 1200 132.3 6 Nucleus 0 0 0 1 5 2005-09-13 Q96PP9 GBP4_HUMAN GBP4 Guanylate-binding protein 4 640 73.2 1 3.6.5.- Golgi apparatus membrane; Cytoplasm; Nucleus 0 0 0 1 5 2003-10-24 Q96Q40 CDK15_HUMAN CDK15 Cyclin-dependent kinase 15 435 49 2 2.7.11.22 0 0 0 1 5 2002-10-19 Q96Q45 TM237_HUMAN TMEM237 Transmembrane protein 237 408 45.5 2 Membrane; Cell projection 4 1 Joubert syndrome 14 0 1 5 2005-12-20 Q96Q80 DERL3_HUMAN DERL3 Derlin-3 235 26.7 22 Endoplasmic reticulum membrane 4 0 0 1 5 2004-07-19 Q96QE2 MYCT_HUMAN SLC2A13 Proton myo-inositol cotransporter 648 70.4 12 Cell membrane 12 0 0 1 5 2002-04-16 Q96QG7 MTMR9_HUMAN MTMR9 Myotubularin-related protein 9 549 63.5 8 Cytoplasm; Cell projection; Endoplasmic reticulum 0 0 0 1 5 2003-07-19 Q96RL7 VP13A_HUMAN VPS13A Intermembrane lipid transfer protein VPS13A 3174 360.3 9 Mitochondrion outer membrane; Endoplasmic reticulum membrane; Endosome membrane; Lysosome membrane; Lipid droplet; Golgi apparatus; Cytoplasmic vesicle 0 1 Choreoacanthocytosis 0 1 5 2002-03-27 Q96RP8 KCNA7_HUMAN KCNA7 Potassium voltage-gated channel subfamily A member 7 456 50.6 19 Membrane 6 0 0 1 5 2007-10-23 Q96S21 RB40C_HUMAN RAB40C Ras-related protein Rab-40C 281 31.3 16 3.6.5.2 Cell membrane; Cytoplasm; Golgi apparatus membrane 0 0 0 1 5 2003-01-10 Q96SB8 SMC6_HUMAN SMC6 Structural maintenance of chromosomes protein 6 1091 126.3 2 Nucleus; Nucleus speckle; Chromosome 0 0 0 1 5 2007-01-09 Q96SK2 TM209_HUMAN TMEM209 Transmembrane protein 209 561 62.9 7 Membrane; Nucleus envelope; Golgi apparatus; Cytoplasm 2 0 0 1 5 2008-04-29 Q96SN7 ORAI2_HUMAN ORAI2 Protein orai-2 254 28.6 7 Cell membrane 4 0 0 1 5 2006-05-16 Q96SZ6 CK5P1_HUMAN CDK5RAP1 Mitochondrial tRNA methylthiotransferase CDK5RAP1 601 67.7 20 2.8.4.3 Mitochondrion 0 0 0 1 5 2003-06-16 Q96T91 GPHA2_HUMAN GPHA2 Glycoprotein hormone alpha-2 129 14.2 11 Secreted 0 0 0 1 5 2003-10-10 Q99541 PLIN2_HUMAN PLIN2 Perilipin-2 437 48.1 9 Membrane; Lipid droplet 0 0 0 1 5 2000-05-30 Q99595 TI17A_HUMAN TIMM17A Mitochondrial import inner membrane translocase subunit Tim17-A 171 18 1 Mitochondrion inner membrane 3 0 0 1 5 1998-07-15 Q99622 C10_HUMAN C12orf57 Protein C10 126 13.2 12 Cytoplasm 0 1 Temtamy syndrome 0 1 5 2000-05-30 Q99624 S38A3_HUMAN SLC38A3 Sodium-coupled neutral amino acid transporter 3 504 55.8 3 Cell membrane; Basolateral cell membrane 10 1 Developmental and epileptic encephalopathy 102 0 1 5 2004-09-27 Q99650 OSMR_HUMAN OSMR Oncostatin-M-specific receptor subunit beta 979 110.5 5 Membrane 1 1 Amyloidosis, primary localized cutaneous, 1 0 1 5 2006-11-28 Q99677 LPAR4_HUMAN LPAR4 Lysophosphatidic acid receptor 4 370 41.9 X Cell membrane 7 0 0 1 5 1997-11-01 Q99687 MEIS3_HUMAN MEIS3 Homeobox protein Meis3 375 41.1 19 Nucleus 0 0 0 1 5 1998-07-15 Q99743 NPAS2_HUMAN NPAS2 Neuronal PAS domain-containing protein 2 824 91.8 2 Nucleus 0 0 0 1 5 1998-12-15 Q99755 PI51A_HUMAN PIP5K1A Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha 562 62.6 1 2.7.1.68 Cell membrane; Cytoplasm; Nucleus; Nucleus speckle; Cell projection 0 0 0 1 5 2005-10-25 Q99767 APBA2_HUMAN APBA2 Amyloid-beta A4 precursor protein-binding family A member 2 749 82.5 15 0 0 0 1 5 2000-05-30 Q99798 ACON_HUMAN ACO2 Aconitate hydratase, mitochondrial 780 85.4 22 4.2.1.3 Mitochondrion 0 2 Infantile cerebellar-retinal degeneration; Optic atrophy 9 0 1 5 1997-11-01 Q99928 GBRG3_HUMAN GABRG3 Gamma-aminobutyric acid receptor subunit gamma-3 467 54.3 15 Postsynaptic cell membrane; Cell membrane 4 0 0 1 5 1998-07-15 Q99935 PROL1_HUMAN OPRPN Opiorphin prepropeptide 248 27.2 4 Secreted 0 0 0 1 5 2002-05-27 Q99942 RNF5_HUMAN RNF5 E3 ubiquitin-protein ligase RNF5 180 19.9 6 2.3.2.27 Cell membrane; Mitochondrion membrane; Endoplasmic reticulum membrane 2 0 0 1 5 2006-06-27 Q9BPU9 B9D2_HUMAN B9D2 B9 domain-containing protein 2 175 19.3 19 Cytoplasm; Nucleus 0 2 Meckel syndrome 10; Joubert syndrome 34 0 1 5 2007-10-23 Q9BQ66 KR412_HUMAN KRTAP4-12 Keratin-associated protein 4-12 201 21.4 17 0 0 0 1 5 2003-10-31 Q9BQC3 DPH2_HUMAN DPH2 2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 489 52.1 1 0 1 Developmental delay with short stature, dysmorphic facial features, and sparse hair 2 0 1 5 2007-10-23 Q9BQD7 ANKMT_HUMAN ANTKMT Adenine nucleotide translocase lysine N-methyltransferase 235 25.1 16 2.1.1.- Mitochondrion membrane 1 0 0 1 5 2006-12-12 Q9BRB3 PIGQ_HUMAN PIGQ Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q 760 84.1 16 Membrane 5 1 Multiple congenital anomalies-hypotonia-seizures syndrome 4 0 1 5 2003-04-23 Q9BRJ9 MESP1_HUMAN MESP1 Mesoderm posterior protein 1 268 28.5 15 Nucleus 0 0 0 1 5 2007-09-11 Q9BRK4 LZTS2_HUMAN LZTS2 Leucine zipper putative tumor suppressor 2 669 72.8 10 Cytoplasm 0 0 0 1 5 2004-04-13 Q9BRP0 OVOL2_HUMAN OVOL2 Transcription factor Ovo-like 2 275 30.4 20 Nucleus 0 1 Corneal dystrophy, posterior polymorphous, 1 0 1 5 2002-09-19 Q9BRQ5 ORAI3_HUMAN ORAI3 Protein orai-3 295 31.5 16 Cell membrane 4 0 0 1 5 2006-05-16 Q9BRT2 UQCC2_HUMAN UQCC2 Ubiquinol-cytochrome c reductase complex assembly factor 2 126 14.9 6 Mitochondrion matrix; Mitochondrion; Mitochondrion intermembrane space; Mitochondrion inner membrane 0 1 Mitochondrial complex III deficiency, nuclear type 7 0 1 5 2005-08-30 Q9BRX9 WDR83_HUMAN WDR83 WD repeat domain-containing protein 83 315 34.3 19 Cytoplasm; Lysosome; Nucleus 0 0 0 1 5 2006-05-16 Q9BS34 ZN670_HUMAN ZNF670 Zinc finger protein 670 389 44.6 1 Nucleus 0 0 0 1 5 2006-05-02 Q9BSJ8 ESYT1_HUMAN ESYT1 Extended synaptotagmin-1 1104 122.9 12 Endoplasmic reticulum membrane; Cell membrane 2 0 0 1 5 2006-05-16 Q9BST9 RTKN_HUMAN RTKN Rhotekin 563 62.7 2 0 0 0 1 5 2006-05-02 Q9BTA9 WAC_HUMAN WAC WW domain-containing adapter protein with coiled-coil 647 70.7 10 Nucleus speckle; Nucleus 0 1 DeSanto-Shinawi syndrome 0 1 5 2006-10-31 Q9BTE6 AASD1_HUMAN AARSD1 Alanyl-tRNA editing protein Aarsd1 412 45.5 17 Cytoplasm 0 0 0 1 5 2007-02-06 Q9BU20 CPLN2_HUMAN CPLANE2 Ciliogenesis and planar polarity effector 2 258 28.5 1 Cytoplasm 0 0 0 1 5 2007-04-17 Q9BUH8 BEGIN_HUMAN BEGAIN Brain-enriched guanylate kinase-associated protein 593 64.8 14 Cytoplasm; Membrane 0 0 0 1 5 2005-02-01 Q9BUN5 CC28B_HUMAN CCDC28B Coiled-coil domain-containing protein 28B 200 22 1 Cytoplasm 0 1 Bardet-Biedl syndrome 0 1 5 2006-05-02 Q9BUV0 RSRP1_HUMAN RSRP1 Arginine/serine-rich protein 1 290 33.6 1 Nucleus 0 0 0 1 5 2007-08-21 Q9BUW7 BBLN_HUMAN BBLN Bublin coiled-coil protein 83 9.1 9 Cell junction; Cytoplasm 0 0 0 1 5 2002-01-31 Q9BV35 SCMC3_HUMAN SLC25A23 Mitochondrial adenyl nucleotide antiporter SLC25A23 468 52.4 19 Mitochondrion inner membrane 6 0 0 1 5 2008-02-05 Q9BV44 THUM3_HUMAN THUMPD3 tRNA (guanine(6)-N(2))-methyltransferase THUMP3 507 57 3 2.1.1.256 Cytoplasm 0 0 0 1 5 2006-11-28 Q9BVH7 SIA7E_HUMAN ST6GALNAC5 Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 336 38.4 1 2.4.99.- Golgi apparatus membrane 1 0 0 1 5 2002-07-11 Q9BWE0 REPI1_HUMAN REPIN1 DNA-binding protein REPIN1 567 63.6 7 Nucleus; Cytoplasm 0 0 0 1 5 2007-02-06 Q9BWH6 RPAP1_HUMAN RPAP1 RNA polymerase II-associated protein 1 1393 152.8 15 Nucleus 0 0 0 1 5 2007-04-17 Q9BWX5 GATA5_HUMAN GATA5 Transcription factor GATA-5 397 41.3 20 Nucleus 0 1 Congenital heart defects, multiple types, 5 0 1 5 2002-01-31 Q9BX10 GTPB2_HUMAN GTPBP2 GTP-binding protein 2 602 65.8 6 0 1 Jaberi-Elahi syndrome 0 1 5 2006-09-05 Q9BX74 TM2D1_HUMAN TM2D1 TM2 domain-containing protein 1 207 22.3 1 Membrane 2 0 0 1 5 2007-08-21 Q9BX79 STRA6_HUMAN STRA6 Receptor for retinol uptake STRA6 667 73.5 15 Cell membrane 9 1 Microphthalmia, syndromic, 9 0 1 5 2007-12-04 Q9BX84 TRPM6_HUMAN TRPM6 Transient receptor potential cation channel subfamily M member 6 2022 231.7 9 2.7.11.1 Cell membrane; Apical cell membrane 6 1 Hypomagnesemia 1 0 1 5 2004-12-07 Q9BXC9 BBS2_HUMAN BBS2 BBSome complex member BBS2 721 79.8 16 Cell projection; Cytoplasm 0 2 Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 0 1 5 2002-05-02 Q9BXI2 ORNT2_HUMAN SLC25A2 Mitochondrial ornithine transporter 2 301 32.6 5 Mitochondrion membrane; Mitochondrion inner membrane 6 0 0 1 5 2002-02-11 Q9BXI3 5NT1A_HUMAN NT5C1A Cytosolic 5'-nucleotidase 1A 368 41 1 3.1.3.5, 3.1.3.89, 3.1.3.99 Cytoplasm 0 0 0 1 5 2004-05-10 Q9BXI6 TB10A_HUMAN TBC1D10A TBC1 domain family member 10A 508 57.1 22 Cell projection 0 0 0 1 5 2002-05-02 Q9BXJ1 C1QT1_HUMAN C1QTNF1 Complement C1q tumor necrosis factor-related protein 1 281 31.7 17 Secreted 0 0 0 1 5 2002-04-16 Q9BXJ3 C1QT4_HUMAN C1QTNF4 Complement C1q tumor necrosis factor-related protein 4 329 35.3 11 Secreted 0 0 0 1 5 2002-04-16 Q9BXL8 CDCA4_HUMAN CDCA4 Cell division cycle-associated protein 4 241 26.1 14 Nucleus 0 0 0 1 5 2003-07-11 Q9BXN1 ASPN_HUMAN ASPN Asporin 380 43.4 9 Secreted 0 2 Osteoarthritis 3; Intervertebral disc disease 0 1 5 2002-06-20 Q9BXP2 S12A9_HUMAN SLC12A9 Solute carrier family 12 member 9 914 96.1 7 Cell membrane; Lysosome membrane 12 0 0 1 5 2008-04-29 Q9BXS0 COPA1_HUMAN COL25A1 Collagen alpha-1(XXV) chain 654 64.8 4 Membrane 1 1 Fibrosis of extraocular muscles, congenital, 5 0 1 5 2006-10-31 Q9BY07 S4A5_HUMAN SLC4A5 Electrogenic sodium bicarbonate cotransporter 4 1137 126.3 2 Apical cell membrane; Basolateral cell membrane 12 0 0 1 5 2008-04-08 Q9BY08 EBPL_HUMAN EBPL Emopamil-binding protein-like 206 23.2 13 Endoplasmic reticulum membrane 4 0 0 1 5 2001-10-18 Q9BY64 UDB28_HUMAN UGT2B28 UDP-glucuronosyltransferase 2B28 529 60.9 4 2.4.1.17 Endoplasmic reticulum membrane; Cytoplasm 1 0 0 1 5 2002-01-23 Q9BYB4 GNB1L_HUMAN GNB1L Guanine nucleotide-binding protein subunit beta-like protein 1 327 35.6 22 Cytoplasm; Nucleus 0 0 0 1 5 2002-12-13 Q9BYG8 GSDMC_HUMAN GSDMC Gasdermin-C 508 57.7 8 Cytoplasm 0 0 0 1 5 2005-07-19 Q9BYN7 ZN341_HUMAN ZNF341 Zinc finger protein 341 854 92.7 20 Nucleus 0 1 Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections 0 1 5 2002-03-27 Q9BYP9 KRA99_HUMAN KRTAP9-9 Keratin-associated protein 9-9 154 16.3 17 0 0 0 1 5 2003-11-14 Q9BYR3 KRA44_HUMAN KRTAP4-4 Keratin-associated protein 4-4 166 18 17 0 0 0 1 5 2003-10-24 Q9BYR6 KRA33_HUMAN KRTAP3-3 Keratin-associated protein 3-3 98 10.4 17 0 0 0 1 5 2003-10-10 Q9BYR7 KRA32_HUMAN KRTAP3-2 Keratin-associated protein 3-2 98 10.4 17 0 0 0 1 5 2003-10-10 Q9BYV8 CEP41_HUMAN CEP41 Centrosomal protein of 41 kDa 373 41.4 7 Cytoplasm; Cell projection 0 1 Joubert syndrome 15 0 1 5 2004-12-21 Q9BYZ2 LDH6B_HUMAN LDHAL6B L-lactate dehydrogenase A-like 6B 381 41.9 15 1.1.1.27 0 0 0 1 5 2001-11-16 Q9BZA7 PC11X_HUMAN PCDH11X Protocadherin-11 X-linked 1347 147.6 X Cell membrane 1 0 0 1 5 2006-04-18 Q9BZE0 GLIS2_HUMAN GLIS2 Zinc finger protein GLIS2 524 55.7 16 Nucleus speckle; Cytoplasm 0 1 Nephronophthisis 7 0 1 5 2007-05-15 Q9BZF2 OSBL7_HUMAN OSBPL7 Oxysterol-binding protein-related protein 7 842 95.4 17 Cytoplasm; Endoplasmic reticulum membrane; Cell membrane 0 0 0 1 5 2002-02-11 Q9BZJ3 TRYD_HUMAN TPSD1 Tryptase delta 242 26.6 16 3.4.21.59 Secreted 0 0 0 1 5 2001-10-18 Q9BZL3 SMIM3_HUMAN SMIM3 Small integral membrane protein 3 60 6.6 5 Membrane 1 0 0 1 5 2004-07-19 Q9C0E2 XPO4_HUMAN XPO4 Exportin-4 1151 130.1 13 Cytoplasm; Nucleus 0 0 0 1 5 2001-11-02 Q9C0I1 MTMRC_HUMAN MTMR12 Myotubularin-related protein 12 747 86.1 5 Cytoplasm; Sarcoplasmic reticulum 0 0 0 1 5 2008-01-15 Q9GZP9 DERL2_HUMAN DERL2 Derlin-2 239 27.6 17 Endoplasmic reticulum membrane 4 0 0 1 5 2004-07-19 Q9GZS9 CHST5_HUMAN CHST5 Carbohydrate sulfotransferase 5 411 46.2 16 2.8.2.- Golgi apparatus membrane 1 0 0 1 5 2005-03-15 Q9GZV4 IF5A2_HUMAN EIF5A2 Eukaryotic translation initiation factor 5A-2 153 16.8 3 Cytoplasm; Nucleus; Endoplasmic reticulum membrane 0 0 0 1 5 2006-04-04 Q9GZW8 MS4A7_HUMAN MS4A7 Membrane-spanning 4-domains subfamily A member 7 240 26.1 11 Membrane 4 0 0 1 5 2003-04-04 Q9GZX3 CHST6_HUMAN CHST6 Carbohydrate sulfotransferase 6 395 44.1 16 Golgi apparatus membrane 1 1 Macular dystrophy, corneal 0 1 5 2005-03-15 Q9H0D2 ZN541_HUMAN ZNF541 Zinc finger protein 541 1346 145.6 19 Nucleus 0 0 0 1 5 2005-10-25 Q9H0E9 BRD8_HUMAN BRD8 Bromodomain-containing protein 8 1235 135.3 5 Nucleus 0 0 0 1 5 2005-02-15 Q9H0J4 QRIC2_HUMAN QRICH2 Glutamine-rich protein 2 1663 180.8 17 Nucleus membrane; Nucleus; Cytoplasm; Cell projection 0 1 Spermatogenic failure 35 0 1 5 2007-07-24 Q9H0L4 CSTFT_HUMAN CSTF2T Cleavage stimulation factor subunit 2 tau variant 616 64.4 10 Nucleus 0 0 0 1 5 2005-07-19 Q9H0X9 OSBL5_HUMAN OSBPL5 Oxysterol-binding protein-related protein 5 879 98.6 11 Endoplasmic reticulum membrane 1 0 0 1 5 2002-02-11 Q9H190 SDCB2_HUMAN SDCBP2 Syntenin-2 292 31.6 20 Cytoplasm; Nucleus; Cell membrane; Nucleus speckle 0 0 0 1 5 2002-05-02 Q9H1B5 XYLT2_HUMAN XYLT2 Xylosyltransferase 2 865 96.8 17 2.4.2.26 Golgi apparatus membrane; Secreted 1 2 Spondyloocular syndrome; Pseudoxanthoma elasticum 0 1 5 2005-05-10 Q9H1V8 S6A17_HUMAN SLC6A17 Sodium-dependent neutral amino acid transporter SLC6A17 727 81 1 Cytoplasmic vesicle; Postsynapse; Presynapse 12 1 Intellectual developmental disorder, autosomal recessive 48 0 1 5 2001-09-26 Q9H201 EPN3_HUMAN EPN3 Epsin-3 632 68.2 17 Cytoplasm; Cytoplasmic vesicle; Nucleus 0 0 0 1 5 2004-01-16 Q9H267 VP33B_HUMAN VPS33B Vacuolar protein sorting-associated protein 33B 617 70.6 15 Late endosome membrane; Lysosome membrane; Early endosome; Cytoplasmic vesicle; Recycling endosome 0 3 Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 0 1 5 2002-09-19 Q9H2C1 LHX5_HUMAN LHX5 LIM/homeobox protein Lhx5 402 44.4 12 Nucleus 0 0 0 1 5 2001-08-29 Q9H2D6 TARA_HUMAN TRIOBP TRIO and F-actin-binding protein 2365 261.4 22 Nucleus 0 1 Deafness, autosomal recessive, 28 0 1 5 2002-05-02 Q9H2L4 TMM60_HUMAN TMEM60 Transmembrane protein 60 133 15.5 7 Membrane 4 0 0 1 5 2004-05-24 Q9H2P0 ADNP_HUMAN ADNP Activity-dependent neuroprotector homeobox protein 1102 123.6 20 Nucleus; Chromosome 0 1 Helsmoortel-van der Aa syndrome 0 1 5 2002-11-01 Q9H300 PARL_HUMAN PARL Presenilin-associated rhomboid-like protein, mitochondrial 379 42.2 3 3.4.21.105 Mitochondrion inner membrane 7 0 0 1 5 2005-04-12 Q9H305 CDIP1_HUMAN CDIP1 Cell death-inducing p53-target protein 1 208 21.9 16 Late endosome membrane; Lysosome membrane 0 0 0 1 5 2007-03-20 Q9H324 ATS10_HUMAN ADAMTS10 A disintegrin and metalloproteinase with thrombospondin motifs 10 1103 120.9 19 3.4.24.- Secreted 0 1 Weill-Marchesani syndrome 1 0 1 5 2001-12-05 Q9H3Q1 BORG4_HUMAN CDC42EP4 Cdc42 effector protein 4 356 38 17 Endomembrane system; Cytoplasm 0 0 0 1 5 2002-06-06 Q9H3S5 PIGM_HUMAN PIGM GPI alpha-1,4-mannosyltransferase I, catalytic subunit 423 49.5 1 2.4.1.- Endoplasmic reticulum membrane 10 1 Glycosylphosphatidylinositol biosynthesis defect 1 0 1 5 2006-07-25 Q9H497 TOR3A_HUMAN TOR3A Torsin-3A 397 46.2 1 Cytoplasm; Endoplasmic reticulum lumen 0 0 0 1 5 2006-03-21 Q9H4D5 NXF3_HUMAN NXF3 Nuclear RNA export factor 3 531 60.1 X Nucleus; Cytoplasm 0 0 0 1 5 2002-05-02 Q9H4I3 TRABD_HUMAN TRABD TraB domain-containing protein 376 42.3 22 Mitochondrion outer membrane 1 0 0 1 5 2002-04-03 Q9H503 BAFL_HUMAN BANF2 Barrier-to-autointegration factor-like protein 90 10.3 20 Nucleus; Cytoplasm 0 0 0 1 5 2002-08-02 Q9H582 ZN644_HUMAN ZNF644 Zinc finger protein 644 1327 149.6 1 Nucleus 0 1 Myopia 21, autosomal dominant 0 1 5 2004-12-07 Q9H5J4 ELOV6_HUMAN ELOVL6 Very long chain fatty acid elongase 6 265 31.4 4 2.3.1.199 Endoplasmic reticulum membrane 7 0 0 1 5 2007-04-03 Q9H5J8 TAF1D_HUMAN TAF1D TATA box-binding protein-associated factor RNA polymerase I subunit D 278 32.1 11 Nucleus 0 0 0 1 5 2006-10-03 Q9H5K3 SG196_HUMAN POMK Protein O-mannose kinase 350 40.1 8 2.7.1.183 Endoplasmic reticulum membrane 1 2 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A12; Muscular dystrophy-dystroglycanopathy limb-girdle C12 0 1 5 2006-11-28 Q9H5V7 IKZF5_HUMAN IKZF5 Zinc finger protein Pegasus 419 46.5 10 Nucleus 0 1 Thrombocytopenia 7 0 1 5 2007-09-11 Q9H5V8 CDCP1_HUMAN CDCP1 CUB domain-containing protein 1 836 92.9 3 Cell membrane 1 0 0 1 5 2006-03-07 Q9H5Z1 DHX35_HUMAN DHX35 Probable ATP-dependent RNA helicase DHX35 703 78.9 20 3.6.4.13 Nucleus; Cytoplasm 0 0 0 1 5 2002-01-23 Q9H5Z6 F124B_HUMAN FAM124B Protein FAM124B 455 51 2 Nucleus 0 0 0 1 5 2007-05-01 Q9H649 NSUN3_HUMAN NSUN3 tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial 340 38.2 3 2.1.1.- Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 48 0 1 5 2007-05-29 Q9H6B4 CLMP_HUMAN CLMP CXADR-like membrane protein 373 41.3 11 Cell junction; Cell membrane 1 1 Congenital short bowel syndrome 0 1 5 2007-06-26 Q9H6R7 WDCP_HUMAN WDCP WD repeat and coiled-coil-containing protein 721 79.1 2 0 0 0 1 5 2007-09-11 Q9H6U6 BCAS3_HUMAN BCAS3 BCAS3 microtubule associated cell migration factor 928 101.2 17 Nucleus; Cytoplasm; Preautophagosomal structure 0 1 Hengel-Maroofian-Schols syndrome 0 1 5 2003-07-25 Q9H6V9 LDAH_HUMAN LDAH Lipid droplet-associated hydrolase 325 37.3 2 3.1.1.13 Lipid droplet; Endoplasmic reticulum 0 0 0 1 5 2007-09-11 Q9H788 SH24A_HUMAN SH2D4A SH2 domain-containing protein 4A 454 52.7 8 Cytoplasm 0 0 0 1 5 2006-05-02 Q9H7N4 SFR19_HUMAN SCAF1 Splicing factor, arginine/serine-rich 19 1312 139.3 19 Nucleus 0 0 0 1 5 2007-09-11 Q9H7V2 SYNG1_HUMAN SYNDIG1 Synapse differentiation-inducing gene protein 1 258 28.6 20 Cell membrane; Early endosome membrane; Postsynaptic density membrane; Synapse; Cell projection 1 0 0 1 5 2002-10-10 Q9H825 METL8_HUMAN METTL8 tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial 291 33.4 2 2.1.1.- Mitochondrion 0 0 0 1 5 2007-11-13 Q9H892 TTC12_HUMAN TTC12 Tetratricopeptide repeat protein 12 705 78.8 11 Cytoplasm 0 1 Ciliary dyskinesia, primary, 45 0 1 5 2003-12-15 Q9H910 JUPI2_HUMAN JPT2 Jupiter microtubule associated homolog 2 190 20.1 16 Cytoplasm; Nucleus 0 0 0 1 5 2005-07-19 Q9H936 GHC1_HUMAN SLC25A22 Mitochondrial glutamate carrier 1 323 34.5 11 Mitochondrion inner membrane 6 1 Developmental and epileptic encephalopathy 3 0 1 5 2003-08-22 Q9H9P2 CHODL_HUMAN CHODL Chondrolectin 273 30.4 21 Cytoplasm; Membrane 1 0 0 1 5 2001-10-18 Q9H9P5 UNKL_HUMAN UNKL Putative E3 ubiquitin-protein ligase UNKL 680 73.8 16 2.3.2.- Cytoplasm; Nucleus 0 0 0 1 5 2007-03-06 Q9HAF1 EAF6_HUMAN MEAF6 Chromatin modification-related protein MEAF6 191 21.6 1 Nucleus; Chromosome 0 0 0 1 5 2007-01-23 Q9HAP2 MLXIP_HUMAN MLXIP MLX-interacting protein 919 101.2 12 Cytoplasm; Nucleus; Mitochondrion outer membrane 0 0 0 1 5 2007-08-21 Q9HB07 MYG1_HUMAN MYG1 MYG1 exonuclease 376 42.5 12 3.1.-.- Nucleus; Mitochondrion matrix 0 0 0 1 5 2001-06-01 Q9HB15 KCNKC_HUMAN KCNK12 Potassium channel subfamily K member 12 430 46.9 2 Cell membrane; Endoplasmic reticulum membrane 4 0 0 1 5 2002-11-01 Q9HB58 SP110_HUMAN SP110 Sp110 nuclear body protein 689 78.4 2 Nucleus 0 1 Hepatic venoocclusive disease with immunodeficiency 0 1 5 2002-08-02 Q9HBG7 LY9_HUMAN LY9 T-lymphocyte surface antigen Ly-9 655 72.1 1 Membrane; Cell membrane 1 0 0 1 5 2002-06-20 Q9HBH7 BEX1_HUMAN BEX1 Protein BEX1 125 14.9 X Nucleus; Cytoplasm 0 0 0 1 5 2006-04-04 Q9HBJ8 CLTRN_HUMAN CLTRN Collectrin 222 25.2 X Cell membrane 1 0 0 1 5 2006-07-11 Q9HBL0 TENS1_HUMAN TNS1 Tensin-1 1839 197 2 3.1.3.- Cell surface; Cell junction; Cytoplasm 0 0 0 1 5 2004-11-23 Q9HCD6 TANC2_HUMAN TANC2 Protein TANC2 1990 219.7 17 Cell projection 0 1 Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 1 5 2008-05-20 Q9HCN4 GPN1_HUMAN GPN1 GPN-loop GTPase 1 374 41.7 2 3.6.5.- Cytoplasm; Nucleus 0 0 0 1 5 2003-09-19 Q9HCQ5 GALT9_HUMAN GALNT9 Polypeptide N-acetylgalactosaminyltransferase 9 603 68.4 12 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q9HCU4 CELR2_HUMAN CELSR2 Cadherin EGF LAG seven-pass G-type receptor 2 2923 317.5 1 Cell membrane 7 0 0 1 5 2002-08-02 Q9HD89 RETN_HUMAN RETN Resistin 108 11.4 19 Secreted 0 0 0 1 5 2001-09-26 Q9NNW7 TRXR2_HUMAN TXNRD2 Thioredoxin reductase 2, mitochondrial 524 56.5 22 1.8.1.9 Mitochondrion 0 1 Glucocorticoid deficiency 5 0 1 5 2003-09-19 Q9NNX1 TUFT1_HUMAN TUFT1 Tuftelin 390 44.3 1 Secreted 0 1 Woolly hair-skin fragility syndrome 0 1 5 2002-08-02 Q9NP50 SHCAF_HUMAN SINHCAF SIN3-HDAC complex-associated factor 221 24.9 12 Nucleus 0 0 0 1 5 2005-07-19 Q9NP56 PDE7B_HUMAN PDE7B 3',5'-cyclic-AMP phosphodiesterase 7B 450 51.8 6 3.1.4.53 0 0 0 1 5 2001-04-27 Q9NP70 AMBN_HUMAN AMBN Ameloblastin 447 48.3 4 Secreted 0 1 Amelogenesis imperfecta 1F 0 1 5 2002-10-10 Q9NP74 PALMD_HUMAN PALMD Palmdelphin 551 62.8 1 Cytoplasm; Cell projection 0 0 0 1 5 2006-11-28 Q9NP80 PLPL8_HUMAN PNPLA8 Calcium-independent phospholipase A2-gamma 782 88.5 7 3.1.1.-, 3.1.1.5 Endoplasmic reticulum membrane; Mitochondrion membrane; Peroxisome membrane 1 1 Mitochondrial myopathy with lactic acidosis 0 1 5 2007-09-11 Q9NPC6 MYOZ2_HUMAN MYOZ2 Myozenin-2 264 29.9 4 Cytoplasm 0 1 Cardiomyopathy, familial hypertrophic, 16 0 1 5 2005-11-22 Q9NPE6 SPAG4_HUMAN SPAG4 Sperm-associated antigen 4 protein 437 48.2 20 Membrane; Cytoplasm; Nucleus envelope; Nucleus inner membrane 2 0 0 1 5 2003-01-17 Q9NPF2 CHSTB_HUMAN CHST11 Carbohydrate sulfotransferase 11 352 41.6 12 2.8.2.5 Golgi apparatus membrane 1 1 Osteochondrodysplasia, brachydactyly, and overlapping malformed digits 0 1 5 2005-03-15 Q9NPH5 NOX4_HUMAN NOX4 NADPH oxidase 4 578 66.9 11 1.6.3.1 Cytoplasm; Endoplasmic reticulum membrane; Cell membrane; Cell junction; Nucleus 6 0 0 1 5 2006-05-30 Q9NPI0 TM138_HUMAN TMEM138 Transmembrane protein 138 162 19.3 11 Vacuole membrane; Cell projection 4 1 Joubert syndrome 16 0 1 5 2007-05-01 Q9NPJ1 MKKS_HUMAN MKKS Molecular chaperone MKKS 570 62.3 20 Cytoplasm; Nucleus 0 2 McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 0 1 5 2000-12-01 Q9NPR2 SEM4B_HUMAN SEMA4B Semaphorin-4B 837 92.8 15 Membrane 1 0 0 1 5 2001-04-27 Q9NQ25 SLAF7_HUMAN SLAMF7 SLAM family member 7 335 37.4 1 Membrane 1 0 0 1 5 2005-05-24 Q9NQ48 LZTL1_HUMAN LZTFL1 Leucine zipper transcription factor-like protein 1 299 34.6 3 Cytoplasm 0 1 Bardet-Biedl syndrome 17 0 1 5 2008-02-26 Q9NQ66 PLCB1_HUMAN PLCB1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 1216 138.6 20 3.1.4.11 Nucleus membrane; Cytoplasm 0 1 Developmental and epileptic encephalopathy 12 0 1 5 2001-01-11 Q9NQ79 CRAC1_HUMAN CRTAC1 Cartilage acidic protein 1 661 71.4 10 Secreted 0 0 0 1 5 2004-07-19 Q9NQ84 GPC5C_HUMAN GPRC5C G protein-coupled receptor family C group 5 member C 441 48.2 17 Cell membrane; Cytoplasmic vesicle membrane 7 0 0 1 5 2004-04-13 Q9NQI0 DDX4_HUMAN DDX4 Probable ATP-dependent RNA helicase DDX4 724 79.3 5 3.6.4.13 Cytoplasm 0 0 0 1 5 2002-01-23 Q9NQL9 DMRT3_HUMAN DMRT3 Doublesex- and mab-3-related transcription factor 3 472 51.2 9 Nucleus 0 0 0 1 5 2007-02-20 Q9NQV8 PRDM8_HUMAN PRDM8 PR domain zinc finger protein 8 689 71.7 4 2.1.1.- Nucleus 0 1 Epilepsy, progressive myoclonic 10 0 1 5 2002-11-08 Q9NQX0 PRDM6_HUMAN PRDM6 Putative histone-lysine N-methyltransferase PRDM6 595 64.5 5 2.1.1.361 Nucleus 0 1 Patent ductus arteriosus 3 0 1 5 2002-11-08 Q9NR00 TCIM_HUMAN TCIM Transcriptional and immune response regulator 106 12.3 8 Cytoplasm; Nucleus; Nucleus speckle 0 0 0 1 5 2005-07-19 Q9NR20 DYRK4_HUMAN DYRK4 Dual specificity tyrosine-phosphorylation-regulated kinase 4 520 59.6 12 2.7.12.1 Cytoplasm 0 0 0 1 5 2001-04-27 Q9NR34 MA1C1_HUMAN MAN1C1 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC 630 70.9 1 3.2.1.113 Golgi apparatus membrane 1 0 0 1 5 2001-11-16 Q9NRD1 FBX6_HUMAN FBXO6 F-box only protein 6 293 33.9 1 Cytoplasm 0 0 0 1 5 2002-11-01 Q9NRF9 DPOE3_HUMAN POLE3 DNA polymerase epsilon subunit 3 147 16.9 9 Nucleus 0 0 0 1 5 2002-08-30 Q9NRH3 TBG2_HUMAN TUBG2 Tubulin gamma-2 chain 451 51.1 17 Cytoplasm 0 0 0 1 5 2001-01-24 Q9NRQ5 SMCO4_HUMAN SMCO4 Single-pass membrane and coiled-coil domain-containing protein 4 59 6.7 11 Membrane 1 0 0 1 5 2005-11-08 Q9NRR5 UBQL4_HUMAN UBQLN4 Ubiquilin-4 601 63.9 1 Nucleus; Cytoplasm; Chromosome; Endoplasmic reticulum; Cytoplasmic vesicle 0 1 Amyotrophic lateral sclerosis 0 1 5 2004-03-15 Q9NRY7 PLS2_HUMAN PLSCR2 Phospholipid scramblase 2 297 33.5 3 Membrane 1 0 0 1 5 2001-06-20 Q9NS00 C1GLT_HUMAN C1GALT1 Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 363 42.2 7 2.4.1.122 Membrane 1 0 0 1 5 2007-05-15 Q9NS15 LTBP3_HUMAN LTBP3 Latent-transforming growth factor beta-binding protein 3 1303 139.4 11 Secreted 0 2 Dental anomalies and short stature; Geleophysic dysplasia 3 0 1 5 2004-01-16 Q9NS56 TOPRS_HUMAN TOPORS E3 ubiquitin-protein ligase Topors 1045 119.2 9 2.3.2.27 Nucleus 0 1 Retinitis pigmentosa 31 0 1 5 2006-04-18 Q9NS64 RPRM_HUMAN RPRM Protein reprimo 109 11.8 2 Cytoplasm; Membrane 1 0 0 1 5 2007-12-04 Q9NS68 TNR19_HUMAN TNFRSF19 Tumor necrosis factor receptor superfamily member 19 423 46 13 Membrane 1 0 0 1 5 2002-05-27 Q9NS71 GKN1_HUMAN GKN1 Gastrokine-1 185 20.3 2 Secreted; Cytoplasmic granule; Golgi apparatus 0 0 0 1 5 2001-11-16 Q9NS84 CHST7_HUMAN CHST7 Carbohydrate sulfotransferase 7 486 54.3 X 2.8.2.-, 2.8.2.17 Golgi apparatus membrane 1 0 0 1 5 2005-03-15 Q9NSB8 HOME2_HUMAN HOMER2 Homer protein homolog 2 354 40.6 15 Cytoplasm; Cell membrane; Postsynaptic density; Synapse; Cell projection 0 1 Deafness, autosomal dominant, 68 0 1 5 2003-11-28 Q9NSC2 SALL1_HUMAN SALL1 Sal-like protein 1 1324 140.4 16 Nucleus 0 1 Townes-Brocks syndrome 1 0 1 5 2002-05-02 Q9NSD4 ZN275_HUMAN ZNF275 Zinc finger protein 275 429 48.4 X Nucleus 0 0 0 1 5 2001-09-26 Q9NTN3 S35D1_HUMAN SLC35D1 Nucleotide sugar transporter SLC35D1 355 39.2 1 Endoplasmic reticulum membrane 8 1 Schneckenbecken dysplasia 0 1 5 2002-01-23 Q9NUJ1 ABHDA_HUMAN ABHD10 Palmitoyl-protein thioesterase ABHD10, mitochondrial 306 33.9 3 3.1.2.22 Mitochondrion 0 0 0 1 5 2007-03-20 Q9NUN5 LMBD1_HUMAN LMBRD1 Lysosomal cobalamin transport escort protein LMBD1 540 61.4 6 Endoplasmic reticulum membrane; Lysosome membrane; Cell membrane; Cytoplasmic vesicle 9 1 Methylmalonic aciduria and homocystinuria, cblF type 0 1 5 2006-11-28 Q9NUQ7 UFSP2_HUMAN UFSP2 Ufm1-specific protease 2 469 53.3 4 3.4.22.- Endoplasmic reticulum; Cytoplasm; Nucleus 0 3 Beukes hip dysplasia; Spondyloepimetaphyseal dysplasia, Di Rocco type; Developmental and epileptic encephalopathy 106 0 1 5 2007-03-20 Q9NV29 TM100_HUMAN TMEM100 Transmembrane protein 100 134 14.4 17 Cell membrane; Membrane; Perikaryon; Cytoplasm; Endoplasmic reticulum 2 0 0 1 5 2006-06-27 Q9NV58 RN19A_HUMAN RNF19A E3 ubiquitin-protein ligase RNF19A 838 90.7 8 2.3.2.31 Membrane; Cytoplasm 2 0 0 1 5 2001-07-11 Q9NV79 PCMD2_HUMAN PCMTD2 Protein-L-isoaspartate O-methyltransferase domain-containing protein 2 361 41.1 20 Cytoplasm 0 0 0 1 5 2003-10-10 Q9NV92 NFIP2_HUMAN NDFIP2 NEDD4 family-interacting protein 2 336 36.4 13 Endosome membrane; Golgi apparatus membrane; Endosome 3 0 0 1 5 2005-08-30 Q9NVC3 S38A7_HUMAN SLC38A7 Sodium-coupled neutral amino acid transporter 7 462 50 16 Lysosome membrane; Cell projection 11 0 0 1 5 2008-02-26 Q9NVE5 UBP40_HUMAN USP40 Ubiquitin carboxyl-terminal hydrolase 40 1235 140.1 2 3.4.19.12 Cytoplasm 0 0 0 1 5 2003-10-10 Q9NVH6 TMLH_HUMAN TMLHE Trimethyllysine dioxygenase, mitochondrial 421 49.5 X 1.14.11.8 Mitochondrion matrix 0 1 Autism, X-linked 6 0 1 5 2002-06-20 Q9NVM4 ANM7_HUMAN PRMT7 Protein arginine N-methyltransferase 7 692 78.5 16 2.1.1.321 Cytoplasm; Nucleus 0 1 Short stature, brachydactyly, impaired intellectual developmental, and seizures 0 1 5 2002-03-27 Q9NWD8 TM248_HUMAN TMEM248 Transmembrane protein 248 314 35.1 7 Membrane 4 0 0 1 5 2007-07-10 Q9NWN3 FBX34_HUMAN FBXO34 F-box only protein 34 711 78.7 14 0 0 0 1 5 2003-02-12 Q9NWQ8 PHAG1_HUMAN PAG1 Phosphoprotein associated with glycosphingolipid-enriched microdomains 1 432 47 8 Cell membrane 1 0 0 1 5 2005-12-20 Q9NWQ9 CN119_HUMAN C14orf119 Uncharacterized protein C14orf119 140 16 14 Mitochondrion 0 0 0 1 5 2003-10-24 Q9NWR8 MCUB_HUMAN MCUB Calcium uniporter regulatory subunit MCUb, mitochondrial 336 39.1 4 Mitochondrion inner membrane 2 0 0 1 5 2007-04-03 Q9NWS8 RMND1_HUMAN RMND1 Required for meiotic nuclear division protein 1 homolog 449 51.6 6 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 11 0 1 5 2006-04-04 Q9NX47 MARH5_HUMAN MARCHF5 E3 ubiquitin-protein ligase MARCHF5 278 31.2 10 2.3.2.27 Mitochondrion outer membrane; Endoplasmic reticulum membrane; Peroxisome membrane 4 0 0 1 5 2007-01-09 Q9NX63 MIC19_HUMAN CHCHD3 MICOS complex subunit MIC19 227 26.2 7 Mitochondrion inner membrane; Cytoplasm; Nucleus; Mitochondrion 0 0 0 1 5 2005-04-12 Q9NX78 TM260_HUMAN TMEM260 Protein O-mannosyl-transferase TMEM260 707 79.5 14 2.4.1.109 Endoplasmic reticulum membrane 8 1 Structural heart defects and renal anomalies syndrome 0 1 5 2003-10-24 Q9NXG0 CNTLN_HUMAN CNTLN Centlein 1405 161.6 9 Cytoplasm 0 0 0 1 5 2006-03-21 Q9NXW9 ALKB4_HUMAN ALKBH4 Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 302 33.8 7 Cytoplasm; Nucleus; Midbody 0 0 0 1 5 2006-05-30 Q9NXX6 NSE4A_HUMAN NSMCE4A Non-structural maintenance of chromosomes element 4 homolog A 385 44.3 10 Nucleus; Chromosome 0 0 0 1 5 2005-07-05 Q9NY26 S39A1_HUMAN SLC39A1 Zinc transporter ZIP1 324 34.3 1 Cell membrane; Endoplasmic reticulum membrane 8 0 0 1 5 2003-09-26 Q9NY27 PP4R2_HUMAN PPP4R2 Serine/threonine-protein phosphatase 4 regulatory subunit 2 417 46.9 3 Cytoplasm; Nucleus 0 0 0 1 5 2007-09-11 Q9NYA4 MTMR4_HUMAN MTMR4 Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR4 1195 133.4 17 3.1.3.95 Early endosome membrane; Recycling endosome membrane; Late endosome membrane; Cytoplasmic vesicle 0 0 0 1 5 2007-09-11 Q9NYL5 CP39A_HUMAN CYP39A1 24-hydroxycholesterol 7-alpha-hydroxylase 469 54.1 6 1.14.14.26 Endoplasmic reticulum membrane; Microsome membrane 3 0 0 1 5 2002-01-23 Q9NYQ3 HAOX2_HUMAN HAO2 2-Hydroxyacid oxidase 2 351 38.8 1 1.1.3.15 Peroxisome 0 0 0 1 5 2001-02-21 Q9NYU2 UGGG1_HUMAN UGGT1 UDP-glucose:glycoprotein glucosyltransferase 1 1555 177.2 2 2.4.1.- Endoplasmic reticulum lumen; Endoplasmic reticulum-Golgi intermediate compartment 0 1 Congenital disorder of glycosylation 2CC 0 1 5 2005-06-21 Q9NZ53 PDXL2_HUMAN PODXL2 Podocalyxin-like protein 2 605 65.1 3 Membrane 1 0 0 1 5 2006-10-03 Q9NZH5 PTTG2_HUMAN PTTG2 Securin-2 202 22.3 4 Cytoplasm; Nucleus 0 0 0 1 5 2008-02-26 Q9NZI7 UBIP1_HUMAN UBP1 Upstream-binding protein 1 540 60.5 3 Nucleus 0 0 0 1 5 2006-03-21 Q9P035 HACD3_HUMAN HACD3 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 3 362 43.2 15 4.2.1.134 Endoplasmic reticulum membrane 6 0 0 1 5 2008-01-15 Q9P0N5 TM216_HUMAN TMEM216 Transmembrane protein 216 145 16.5 11 Membrane; Cytoplasm 4 3 Joubert syndrome 2; Meckel syndrome 2; Retinitis pigmentosa 98 0 1 5 2008-02-26 Q9P0N8 MARH2_HUMAN MARCHF2 E3 ubiquitin-protein ligase MARCHF2 246 27 19 2.3.2.27 Endoplasmic reticulum membrane; Lysosome membrane; Endosome membrane; Golgi apparatus membrane; Cytoplasm; Cell membrane 2 0 0 1 5 2005-01-04 Q9P0V3 SH3B4_HUMAN SH3BP4 SH3 domain-binding protein 4 963 107.5 2 Membrane; Cytoplasmic vesicle; Nucleus 0 0 0 1 5 2007-02-06 Q9P0V8 SLAF8_HUMAN SLAMF8 SLAM family member 8 285 31.7 1 Membrane 1 0 0 1 5 2005-06-07 Q9P0W0 IFNK_HUMAN IFNK Interferon kappa 207 25.2 9 Secreted 0 0 0 1 5 2005-03-01 Q9P0Z9 SOX_HUMAN PIPOX Peroxisomal sarcosine oxidase 390 44.1 17 1.5.3.1, 1.5.3.7 Peroxisome 0 0 0 1 5 2002-01-23 Q9P1A6 DLGP2_HUMAN DLGAP2 Disks large-associated protein 2 1054 117.6 8 Cell membrane; Postsynaptic density; Synapse 0 0 0 1 5 2001-09-26 Q9P1Q0 VPS54_HUMAN VPS54 Vacuolar protein sorting-associated protein 54 977 110.6 2 Golgi apparatus; Membrane 0 0 0 1 5 2005-05-10 Q9P1W3 TM63C_HUMAN TMEM63C Osmosensitive cation channel TMEM63C 806 93.3 14 Endoplasmic reticulum membrane; Cell membrane 11 1 Spastic paraplegia 87, autosomal recessive 0 1 5 2007-03-20 Q9P244 LRFN1_HUMAN LRFN1 Leucine-rich repeat and fibronectin type III domain-containing protein 1 771 82.3 19 Membrane; Synapse; Postsynaptic density membrane 1 0 0 1 5 2008-05-20 Q9P267 MBD5_HUMAN MBD5 Methyl-CpG-binding domain protein 5 1494 159.9 2 Nucleus; Chromosome 0 1 Intellectual developmental disorder, autosomal dominant 1 0 1 5 2004-07-19 Q9P296 C5AR2_HUMAN C5AR2 C5a anaphylatoxin chemotactic receptor 2 337 36.1 19 Cell membrane 7 0 0 1 5 2002-03-05 Q9P2E2 KIF17_HUMAN KIF17 Kinesin-like protein KIF17 1029 115.1 1 Cytoplasm; Cell projection 0 0 0 1 5 2002-09-19 Q9P2E5 CHPF2_HUMAN CHPF2 Chondroitin polymerizing factor 2, non-catalytic subunit 772 85.9 7 Golgi apparatus membrane 1 0 0 1 5 2005-02-01 Q9P2E8 MARH4_HUMAN MARCHF4 E3 ubiquitin-protein ligase MARCHF4 410 45.5 2 2.3.2.27 Golgi apparatus membrane 2 0 0 1 5 2005-02-15 Q9P2F9 ZN319_HUMAN ZNF319 Zinc finger protein 319 582 65.5 16 Nucleus 0 0 0 1 5 2002-11-15 Q9P2G4 MAP10_HUMAN MAP10 Microtubule-associated protein 10 905 100.3 1 Cytoplasm; Midbody 0 0 0 1 5 2001-06-01 Q9P2H0 CE126_HUMAN CEP126 Centrosomal protein of 126 kDa 1117 125.9 11 Midbody; Cytoplasm 0 0 0 1 5 2006-09-05 Q9P2H3 IFT80_HUMAN IFT80 Intraflagellar transport protein 80 homolog 777 88 3 Cytoplasm 0 1 Short-rib thoracic dysplasia 2 with or without polydactyly 0 1 5 2005-03-15 Q9P2K2 TXD16_HUMAN TXNDC16 Thioredoxin domain-containing protein 16 825 93.6 14 Secreted; Endoplasmic reticulum lumen 0 0 0 1 5 2006-10-31 Q9P2K6 KLH42_HUMAN KLHL42 Kelch-like protein 42 505 56.9 12 Cytoplasm 0 0 0 1 5 2001-06-01 Q9P2N6 KANL3_HUMAN KANSL3 KAT8 regulatory NSL complex subunit 3 904 96 2 Nucleus; Mitochondrion; Cytoplasm 0 0 0 1 5 2007-05-15 Q9P2U7 VGLU1_HUMAN SLC17A7 Vesicular glutamate transporter 1 560 61.6 19 Cytoplasmic vesicle; Cell membrane; Synapse 12 0 0 1 5 2008-04-29 Q9P2U8 VGLU2_HUMAN SLC17A6 Vesicular glutamate transporter 2 582 64.4 11 Cytoplasmic vesicle; Synapse; Cell membrane 12 0 0 1 5 2008-02-05 Q9UBC1 IKBL1_HUMAN NFKBIL1 NF-kappa-B inhibitor-like protein 1 381 43.3 6 Nucleus 0 1 Rheumatoid arthritis 0 1 5 2004-03-01 Q9UBE8 NLK_HUMAN NLK Serine/threonine-protein kinase NLK 527 58.3 17 2.7.11.24 Nucleus; Cytoplasm 0 0 0 1 5 2004-07-19 Q9UBK5 HCST_HUMAN HCST Hematopoietic cell signal transducer 93 9.5 19 Membrane 1 0 0 1 5 2008-04-29 Q9UBN6 TR10D_HUMAN TNFRSF10D Tumor necrosis factor receptor superfamily member 10D 386 41.8 8 Membrane 1 0 0 1 5 2001-09-26 Q9UBQ6 EXTL2_HUMAN EXTL2 Exostosin-like 2 330 37.5 1 2.4.1.223 Endoplasmic reticulum membrane 1 0 0 1 5 2000-12-01 Q9UBS8 RNF14_HUMAN RNF14 E3 ubiquitin-protein ligase RNF14 474 53.8 5 2.3.2.31 Cytoplasm; Nucleus 0 0 0 1 5 2001-09-26 Q9UC07 ZNF69_HUMAN ZNF69 Zinc finger protein 69 566 65.8 19 Nucleus 0 0 0 1 5 2002-09-19 Q9UD71 PPR1B_HUMAN PPP1R1B Protein phosphatase 1 regulatory subunit 1B 204 23 17 Cytoplasm 0 0 0 1 5 2000-05-30 Q9UFP1 GAK1A_HUMAN GASK1A Golgi-associated kinase 1A 575 63.6 3 Secreted; Endoplasmic reticulum; Golgi apparatus; Membrane 0 0 0 1 5 2007-09-11 Q9UGJ0 AAKG2_HUMAN PRKAG2 5'-AMP-activated protein kinase subunit gamma-2 569 63.1 7 0 3 Wolff-Parkinson-White syndrome; Cardiomyopathy, familial hypertrophic, 6; Glycogen storage disease of heart lethal congenital 0 1 5 2001-06-01 Q9UGL9 CRCT1_HUMAN CRCT1 Cysteine-rich C-terminal protein 1 99 9.7 1 0 0 0 1 5 2000-12-01 Q9UHE5 NAT8_HUMAN NAT8 N-acetyltransferase 8 227 25.6 2 2.3.1.- Endoplasmic reticulum-Golgi intermediate compartment membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2007-04-17 Q9UHF1 EGFL7_HUMAN EGFL7 Epidermal growth factor-like protein 7 273 29.6 9 Secreted 0 0 0 1 5 2004-10-25 Q9UHJ9 PGAP2_HUMAN PGAP2 Acyltransferase PGAP2 254 29.4 11 2.3.-.- Golgi apparatus membrane 5 1 Hyperphosphatasia with impaired intellectual development syndrome 3 0 1 5 2008-03-18 Q9UHM6 OPN4_HUMAN OPN4 Melanopsin 478 52.6 10 Cell membrane; Cell projection; Perikaryon 7 0 0 1 5 2001-04-27 Q9UHQ9 NB5R1_HUMAN CYB5R1 NADH-cytochrome b5 reductase 1 305 34.1 1 1.6.2.2 Membrane 1 0 0 1 5 2007-05-15 Q9UHV2 SRTD1_HUMAN SERTAD1 SERTA domain-containing protein 1 236 24.7 19 0 0 0 1 5 2003-07-11 Q9UI26 IPO11_HUMAN IPO11 Importin-11 975 112.5 5 Cytoplasm; Nucleus 0 0 0 1 5 2004-07-19 Q9UI40 NCKX2_HUMAN SLC24A2 Sodium/potassium/calcium exchanger 2 661 73.7 9 Cell membrane 11 0 0 1 5 2001-12-13 Q9UIJ5 ZDHC2_HUMAN ZDHHC2 Palmitoyltransferase ZDHHC2 367 42 8 2.3.1.225 Postsynaptic density; Postsynaptic recycling endosome membrane; Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane 4 0 0 1 5 2003-02-01 Q9UJ55 MAGL2_HUMAN MAGEL2 MAGE-like protein 2 1249 132.8 15 Early endosome; Cytoplasm; Nucleus 0 1 Schaaf-Yang syndrome 0 1 5 2001-10-18 Q9UJC3 HOOK1_HUMAN HOOK1 Protein Hook homolog 1 728 84.6 1 Cytoplasm 0 0 0 1 5 2004-02-02 Q9UJF2 NGAP_HUMAN RASAL2 Ras GTPase-activating protein nGAP 1139 128.6 1 0 0 0 1 5 2001-05-04 Q9UJJ9 GNPTG_HUMAN GNPTG N-acetylglucosamine-1-phosphotransferase subunit gamma 305 34 16 Secreted; Golgi apparatus 0 1 Mucolipidosis type III complementation group C 0 1 5 2005-07-19 Q9UJL9 ZF69B_HUMAN ZFP69B Zinc finger protein 69 homolog B 534 61.5 1 Nucleus 0 0 0 1 5 2005-11-08 Q9UJP4 KLH21_HUMAN KLHL21 Kelch-like protein 21 597 66.6 1 Cytoplasm 0 0 0 1 5 2001-06-01 Q9UJT2 TSKS_HUMAN TSKS Testis-specific serine kinase substrate 592 65.1 19 Cytoplasm 0 0 0 1 5 2004-03-01 Q9UJU2 LEF1_HUMAN LEF1 Lymphoid enhancer-binding factor 1 399 44.2 4 Nucleus 0 1 Ectodermal dysplasia 17 with or without limb malformations 0 1 5 2000-12-01 Q9UJZ1 STML2_HUMAN STOML2 Stomatin-like protein 2, mitochondrial 356 38.5 9 Cell membrane; Mitochondrion; Mitochondrion inner membrane; Mitochondrion intermembrane space; Membrane raft; Cytoplasm 0 0 0 1 5 2005-02-01 Q9UK59 DBR1_HUMAN DBR1 Lariat debranching enzyme 544 61.6 3 3.1.4.- Nucleus 0 2 Encephalitis, acute, infection (viral)-induced, 11; Xerosis and growth failure with immune and pulmonary dysfunction syndrome 0 1 5 2006-09-19 Q9UK76 JUPI1_HUMAN JPT1 Jupiter microtubule associated homolog 1 154 16 17 Nucleus; Cytoplasm 0 0 0 1 5 2006-01-24 Q9UKA2 FBXL4_HUMAN FBXL4 F-box/LRR-repeat protein 4 621 70.1 6 Cytoplasm; Nucleus; Mitochondrion outer membrane 0 1 Mitochondrial DNA depletion syndrome 13 0 1 5 2002-05-27 Q9UKG9 OCTC_HUMAN CROT Peroxisomal carnitine O-octanoyltransferase 612 70.2 7 2.3.1.137 Peroxisome 0 0 0 1 5 2001-01-11 Q9UKN1 MUC12_HUMAN MUC12 Mucin-12 5478 558.2 7 Membrane 1 0 0 1 5 2008-04-29 Q9UKU0 ACSL6_HUMAN ACSL6 Long-chain-fatty-acid--CoA ligase 6 697 77.8 5 6.2.1.3 Mitochondrion outer membrane; Peroxisome membrane; Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2001-04-27 Q9ULB5 CADH7_HUMAN CDH7 Cadherin-7 785 87.1 18 Cell membrane 1 0 0 1 5 2001-10-24 Q9ULI2 RIMKB_HUMAN RIMKLB Beta-citrylglutamate synthase B 386 42.5 12 6.3.1.17 Cytoplasm 0 0 0 1 5 2007-04-03 Q9ULW6 NP1L2_HUMAN NAP1L2 Nucleosome assembly protein 1-like 2 460 52.5 X Nucleus; Chromosome; Cytoplasm 0 0 0 1 5 2002-08-13 Q9UMW8 UBP18_HUMAN USP18 Ubl carboxyl-terminal hydrolase 18 372 43 22 3.4.19.12 Cytoplasm 0 1 Pseudo-TORCH syndrome 2 0 1 5 2000-12-01 Q9UN42 AT1B4_HUMAN ATP1B4 Protein ATP1B4 357 41.6 X Nucleus inner membrane 1 0 0 1 5 2001-11-16 Q9UN79 SOX13_HUMAN SOX13 Transcription factor SOX-13 622 69.2 1 Nucleus; Cytoplasm 0 0 0 1 5 2000-12-01 Q9UNE2 RPH3L_HUMAN RPH3AL Rab effector Noc2 315 34.5 17 Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 2007-02-20 Q9UNH5 CC14A_HUMAN CDC14A Dual specificity protein phosphatase CDC14A 594 66.6 1 3.1.3.16, 3.1.3.48 Nucleus; Cytoplasm; Cell projection 0 1 Deafness, autosomal recessive, 32, with or without immotile sperm 0 1 5 2004-11-23 Q9UNK4 PA2GD_HUMAN PLA2G2D Group IID secretory phospholipase A2 145 16.5 1 3.1.1.4 Secreted 0 0 0 1 5 2002-02-11 Q9UPM8 AP4E1_HUMAN AP4E1 AP-4 complex subunit epsilon-1 1137 127.3 15 Golgi apparatus 0 2 Spastic paraplegia 51, autosomal recessive; Stuttering, familial persistent 1 0 1 5 2001-04-27 Q9UPQ4 TRI35_HUMAN TRIM35 E3 ubiquitin-protein ligase TRIM35 493 56.5 8 2.3.2.27 Cytoplasm; Nucleus 0 0 0 1 5 2004-12-07 Q9UPQ9 TNR6B_HUMAN TNRC6B Trinucleotide repeat-containing gene 6B protein 1833 194 22 Cytoplasm 0 1 Global developmental delay with speech and behavioral abnormalities 0 1 5 2003-11-07 Q9UPU7 TBD2B_HUMAN TBC1D2B TBC1 domain family member 2B 963 109.9 15 Early endosome 0 1 Neurodevelopmental disorder with seizures and gingival overgrowth 0 1 5 2008-01-15 Q9UPV9 TRAK1_HUMAN TRAK1 Trafficking kinesin-binding protein 1 953 106 3 Cytoplasm; Nucleus; Mitochondrion; Early endosome; Endosome; Mitochondrion membrane 0 1 Developmental and epileptic encephalopathy 68 0 1 5 2001-02-21 Q9UPZ3 HPS5_HUMAN HPS5 BLOC-2 complex member HPS5 1129 127.4 11 Cytoplasm 0 1 Hermansky-Pudlak syndrome 5 0 1 5 2001-02-21 Q9UQ53 MGT4B_HUMAN MGAT4B Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B 548 63.2 5 2.4.1.145 Golgi apparatus membrane 1 0 0 1 5 2007-05-29 Q9UQC9 CLCA2_HUMAN CLCA2 Calcium-activated chloride channel regulator 2 943 103.9 1 3.4.-.- Cell membrane; Basal cell membrane; Cell junction 1 0 0 1 5 2008-05-20 Q9UQP3 TENN_HUMAN TNN Tenascin-N 1299 144 1 Secreted 0 0 0 1 5 2003-08-29 Q9UQQ2 SH2B3_HUMAN SH2B3 SH2B adapter protein 3 575 63.2 12 0 2 Celiac disease 13; Type 1 diabetes mellitus 0 1 5 2001-04-27 Q9UQR1 ZN148_HUMAN ZNF148 Zinc finger protein 148 794 89 3 Nucleus 0 1 Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 1 5 2001-01-24 Q9Y234 LIPT_HUMAN LIPT1 Lipoyl amidotransferase LIPT1, mitochondrial 373 42.5 2 2.3.1.200 Mitochondrion 0 1 Lipoyltransferase 1 deficiency 0 1 5 2002-10-10 Q9Y238 DLEC1_HUMAN DLEC1 Deleted in lung and esophageal cancer protein 1 1755 195.7 3 Cytoplasm 0 2 Lung cancer; Esophageal cancer 0 1 5 2005-10-25 Q9Y283 INVS_HUMAN INVS Inversin 1065 117.8 9 Cytoplasm; Membrane; Nucleus; Cell projection 0 1 Nephronophthisis 2 0 1 5 2005-07-05 Q9Y284 ASTER_HUMAN WDR83OS PAT complex subunit Asterix 106 12.1 19 Endoplasmic reticulum membrane 3 1 Neurodevelopmental disorder with variable familial hypercholanemia 0 1 5 2001-01-24 Q9Y2B2 PIGL_HUMAN PIGL N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase 252 28.5 17 3.5.1.89 Endoplasmic reticulum membrane 1 1 Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome 0 1 5 2001-07-11 Q9Y2C2 UST_HUMAN UST Uronyl 2-sulfotransferase 406 47.7 6 2.8.2.- Golgi apparatus membrane 1 0 0 1 5 2005-06-21 Q9Y2E6 DTX4_HUMAN DTX4 E3 ubiquitin-protein ligase DTX4 619 67.3 11 2.3.2.27 Cytoplasm 0 0 0 1 5 2007-03-20 Q9Y2E8 SL9A8_HUMAN SLC9A8 Sodium/hydrogen exchanger 8 581 65.4 20 Golgi apparatus membrane; Golgi apparatus; Endosome; Apical cell membrane; Cytoplasmic vesicle 11 0 0 1 5 2004-03-01 Q9Y2F9 BTBD3_HUMAN BTBD3 BTB/POZ domain-containing protein 3 522 58.4 20 Cytoplasm; Nucleus 0 0 0 1 5 2002-01-23 Q9Y2I9 TBC30_HUMAN TBC1D30 TBC1 domain family member 30 924 102.7 12 Cell membrane 0 0 0 1 5 2008-02-26 Q9Y2J4 AMOL2_HUMAN AMOTL2 Angiomotin-like protein 2 779 85.8 3 Recycling endosome; Cytoplasm; Cell projection; Cell junction 0 0 0 1 5 2005-09-27 Q9Y2K1 ZBTB1_HUMAN ZBTB1 Zinc finger and BTB domain-containing protein 1 713 82 14 Nucleus 0 0 0 1 5 2003-04-30 Q9Y2L9 LRCH1_HUMAN LRCH1 Leucine-rich repeat and calponin homology domain-containing protein 1 728 80.9 13 Cytoplasm 0 0 0 1 5 2003-02-22 Q9Y2V0 CDIN1_HUMAN CDIN1 CDAN1-interacting nuclease 1 281 32.3 15 Nucleus; Cytoplasm 0 1 Anemia, congenital dyserythropoietic, 1B 0 1 5 2007-01-09 Q9Y2Z9 COQ6_HUMAN COQ6 Ubiquinone biosynthesis monooxygenase COQ6, mitochondrial 468 50.9 14 1.14.15.45 Mitochondrion inner membrane; Golgi apparatus; Cell projection 0 1 Coenzyme Q10 deficiency, primary, 6 0 1 5 2000-05-30 Q9Y345 SC6A5_HUMAN SLC6A5 Sodium- and chloride-dependent glycine transporter 2 797 87.4 11 Cell membrane 12 1 Hyperekplexia 3 0 1 5 2001-09-26 Q9Y385 UB2J1_HUMAN UBE2J1 Ubiquitin-conjugating enzyme E2 J1 318 35.2 6 2.3.2.23 Endoplasmic reticulum membrane 1 0 0 1 5 2004-09-13 Q9Y3C0 WASC3_HUMAN WASHC3 WASH complex subunit 3 194 21.2 12 Early endosome 0 0 0 1 5 2000-05-30 Q9Y3C5 RNF11_HUMAN RNF11 RING finger protein 11 154 17.4 1 Early endosome; Recycling endosome; Cytoplasm; Nucleus 0 0 0 1 5 2002-06-06 Q9Y3D2 MSRB2_HUMAN MSRB2 Methionine-R-sulfoxide reductase B2, mitochondrial 182 19.5 10 1.8.4.12, 1.8.4.14 Mitochondrion 0 0 0 1 5 2001-01-11 Q9Y3P8 SIT1_HUMAN SIT1 Signaling threshold-regulating transmembrane adapter 1 196 21.1 9 Cell membrane 1 0 0 1 5 2005-12-20 Q9Y3R5 DOP1B_HUMAN DOP1B Protein DOP1B 2298 258.2 21 Early endosome membrane; Golgi apparatus membrane 0 0 0 1 5 2000-05-30 Q9Y458 TBX22_HUMAN TBX22 T-box transcription factor TBX22 520 57.9 X Nucleus 0 2 Cleft palate with or without ankyloglossia, X-linked; Abruzzo-Erickson syndrome 0 1 5 2001-01-11 Q9Y487 VPP2_HUMAN ATP6V0A2 V-type proton ATPase 116 kDa subunit a 2 856 98.1 12 Cell membrane; Endosome membrane 8 2 Cutis laxa, autosomal recessive, 2A; Wrinkly skin syndrome 0 1 5 2000-12-01 Q9Y4C1 KDM3A_HUMAN KDM3A Lysine-specific demethylase 3A 1321 147.3 2 1.14.11.65 Cytoplasm; Nucleus 0 0 0 1 5 2005-11-22 Q9Y4D8 HECD4_HUMAN HECTD4 Probable E3 ubiquitin-protein ligase HECTD4 3996 439.3 2.3.2.26 Membrane 1 1 Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum 0 1 5 2008-07-01 Q9Y4F4 TGRM1_HUMAN TOGARAM1 TOG array regulator of axonemal microtubules protein 1 1720 189.4 14 Cell projection; Cytoplasm 0 1 Joubert syndrome 37 0 1 5 2006-10-03 Q9Y4L5 RN115_HUMAN RNF115 E3 ubiquitin-protein ligase RNF115 304 33.7 1 2.3.2.27 Cytoplasm; Nucleus; Endoplasmic reticulum; Golgi apparatus 0 0 0 1 5 2003-02-12 Q9Y4P3 TBL2_HUMAN TBL2 Transducin beta-like protein 2 447 49.8 7 0 0 0 1 5 2001-01-11 Q9Y577 TRI17_HUMAN TRIM17 E3 ubiquitin-protein ligase TRIM17 477 54.4 1 2.3.2.27 Cytoplasm; Lysosome 0 0 0 1 5 2003-11-28 Q9Y586 MB212_HUMAN MAB21L2 Protein mab-21-like 2 359 40.9 4 Nucleus; Cytoplasm 0 1 Microphthalmia/coloboma and skeletal dysplasia syndrome 0 1 5 2007-12-04 Q9Y587 AP4S1_HUMAN AP4S1 AP-4 complex subunit sigma-1 144 17 14 Golgi apparatus 0 1 Spastic paraplegia 52, autosomal recessive 0 1 5 2001-04-27 Q9Y5E9 PCDBE_HUMAN PCDHB14 Protocadherin beta-14 798 87.5 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5I2 PCDAA_HUMAN PCDHA10 Protocadherin alpha-10 948 102.9 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5K3 PCY1B_HUMAN PCYT1B Choline-phosphate cytidylyltransferase B 369 41.9 X 2.7.7.15 Cytoplasm; Endoplasmic reticulum 0 0 0 1 5 2001-01-24 Q9Y5V3 MAGD1_HUMAN MAGED1 Melanoma-associated antigen D1 778 86.2 X Cytoplasm; Cell membrane; Nucleus 0 0 0 1 5 2001-01-24 Q9Y5W3 KLF2_HUMAN KLF2 Krueppel-like factor 2 355 37.4 19 Nucleus 0 0 0 1 5 2000-05-30 Q9Y673 ALG5_HUMAN ALG5 Dolichyl-phosphate beta-glucosyltransferase 324 36.9 13 2.4.1.117 Endoplasmic reticulum membrane 1 1 Polycystic kidney disease 7 0 1 5 2003-01-10 Q9Y6C5 PTC2_HUMAN PTCH2 Protein patched homolog 2 1203 130.5 1 Cell membrane; Cell projection 12 2 Medulloblastoma; Basal cell carcinoma 0 1 5 2001-01-24 Q9Y6C9 MTCH2_HUMAN MTCH2 Mitochondrial carrier homolog 2 303 33.3 11 Mitochondrion outer membrane 6 0 0 1 5 2005-06-07 Q9Y6H3 ATP23_HUMAN ATP23 Mitochondrial inner membrane protease ATP23 homolog 246 28.1 12 3.4.24.- 0 0 0 1 5 2008-04-29 Q9Y6J8 STYL1_HUMAN STYXL1 Serine/threonine/tyrosine-interacting-like protein 1 313 35.8 7 Mitochondrion matrix 0 0 0 1 5 2003-02-28 Q9Y6P5 SESN1_HUMAN SESN1 Sestrin-1 492 56.6 6 1.11.1.- Nucleus; Cytoplasm 0 0 0 1 5 2001-04-27 Q9Y6V7 DDX49_HUMAN DDX49 Probable ATP-dependent RNA helicase DDX49 483 54.2 19 3.6.4.13 Nucleus 0 0 0 1 5 2005-09-27 A0A0U1RRE5 NBDY_HUMAN NBDY Negative regulator of P-body association 68 7 X Cytoplasm 0 0 0 1 5 2017-03-15 A0AVF1 IFT56_HUMAN IFT56 Intraflagellar transport protein 56 554 64.2 7 Cell projection 0 1 Biliary, renal, neurologic, and skeletal syndrome 0 1 5 2007-05-29 A0PK05 TMM72_HUMAN TMEM72 Transmembrane protein 72 275 29.9 10 Cell membrane; Early endosome membrane 3 0 0 1 5 2008-02-26 A1A5B4 ANO9_HUMAN ANO9 Anoctamin-9 782 90.3 11 Cell membrane; Endoplasmic reticulum 8 0 0 1 5 2007-05-29 A1A5C7 S22AN_HUMAN SLC22A23 Solute carrier family 22 member 23 686 73.7 6 Membrane 10 0 0 1 5 2007-10-23 A1L390 PKHG3_HUMAN PLEKHG3 Pleckstrin homology domain-containing family G member 3 1219 134.4 14 Cytoplasm 0 0 0 1 5 2007-10-02 A2RTX5 SYTC2_HUMAN TARS3 Threonine--tRNA ligase 2, cytoplasmic 802 92.6 15 6.1.1.3 Cytoplasm; Nucleus 0 0 0 1 5 2008-05-20 A2RU49 HYKK_HUMAN HYKK Hydroxylysine kinase 373 41.9 15 2.7.1.81 Cytoplasm 0 0 0 1 5 2008-03-18 A2VDJ0 T131L_HUMAN TMEM131L Transmembrane protein 131-like 1609 179.3 4 Cell membrane; Cytoplasm 1 0 0 1 5 2008-04-08 A5A3E0 POTEF_HUMAN POTEF POTE ankyrin domain family member F 1075 121.4 2 Cytoplasm 0 0 0 1 5 2007-10-23 A5D8T8 CL18A_HUMAN CLEC18A C-type lectin domain family 18 member A 446 49.6 16 Secreted; Endoplasmic reticulum; Golgi apparatus; Endosome 0 0 0 1 5 2008-03-18 A5LHX3 PSB11_HUMAN PSMB11 Proteasome subunit beta type-11 300 32.5 14 3.4.25.1 Cytoplasm; Nucleus 0 0 0 1 5 2007-09-11 A5PKW4 PSD1_HUMAN PSD PH and SEC7 domain-containing protein 1 1024 109.5 10 Cell membrane; Cell projection; Cleavage furrow 0 0 0 1 5 2008-02-05 A5PLN9 TPC13_HUMAN TRAPPC13 Trafficking protein particle complex subunit 13 417 46.5 5 0 0 0 1 5 2008-02-26 A6H8Z2 F221B_HUMAN FAM221B Protein FAM221B 402 45.4 9 0 0 0 1 5 2007-11-13 A6NC98 CC88B_HUMAN CCDC88B Coiled-coil domain-containing protein 88B 1476 164.8 11 Membrane; Cytoplasm; Endoplasmic reticulum; Golgi apparatus 0 0 0 1 5 2008-02-05 A6NDV4 TMM8B_HUMAN TMEM8B Transmembrane protein 8B 472 51.9 9 Cell membrane; Cytoplasm; Nucleus; Mitochondrion; Endoplasmic reticulum 7 0 0 1 5 2008-05-20 A6NEM1 GG6L9_HUMAN GOLGA6L9 Golgin subfamily A member 6-like protein 9 432 49.2 15 0 0 0 1 5 2008-05-20 A6NGU5 GGT3_HUMAN GGT3P Putative glutathione hydrolase 3 proenzyme 568 61.5 3.4.19.13 Membrane 1 0 0 5 5 2008-05-20 A6NIM6 S15A5_HUMAN SLC15A5 Solute carrier family 15 member 5 579 65.3 12 Membrane 11 0 0 1 5 2008-04-29 A6NNM8 TTL13_HUMAN TTLL13 Tubulin polyglutamylase TTLL13 815 93.6 15 6.3.2.- Cytoplasm 0 0 0 1 5 2008-03-18 A6PVC2 TTLL8_HUMAN TTLL8 Protein monoglycylase TTLL8 850 94.7 22 6.3.2.- Cytoplasm; Cell projection 0 0 0 2 5 2008-06-10 A8K0Z3 WASH1_HUMAN WASHC1 WASH complex subunit 1 465 50.3 9 Early endosome membrane; Recycling endosome membrane; Late endosome; Cytoplasmic vesicle; Cytoplasm 0 0 0 1 5 2008-04-08 A8MQ27 NEU1B_HUMAN NEURL1B E3 ubiquitin-protein ligase NEURL1B 555 59.3 5 2.3.2.27 Cytoplasm 0 0 0 1 5 2008-09-02 A8TX70 CO6A5_HUMAN COL6A5 Collagen alpha-5(VI) chain 2615 289.9 3 Secreted 0 0 0 1 5 2008-05-20 A9QM74 IMA8_HUMAN KPNA7 Importin subunit alpha-8 516 56.9 7 Nucleus 0 1 Oocyte/zygote/embryo maturation arrest 17 0 1 5 2008-03-18 B0L3A2 DESPR_HUMAN FBXW7-AS1 Dual endothelin-1/VEGF signal peptide receptor 85 9.7 Cell membrane 1 0 0 1 5 2021-06-02 H3BV60 TGR3L_HUMAN TGFBR3L Transforming growth factor-beta receptor type 3-like protein 292 30.2 19 Cell membrane 1 0 0 1 5 2012-10-03 O00142 KITM_HUMAN TK2 Thymidine kinase 2, mitochondrial 265 31 16 2.7.1.21 Mitochondrion 0 2 Mitochondrial DNA depletion syndrome 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 0 1 5 1997-11-01 O00186 STXB3_HUMAN STXBP3 Syntaxin-binding protein 3 592 67.8 1 Cytoplasm; Cell membrane 0 0 0 1 5 1997-11-01 O00219 HYAS3_HUMAN HAS3 Hyaluronan synthase 3 553 63 16 2.4.1.212 Cell membrane; Golgi apparatus membrane; Golgi apparatus; Early endosome 7 0 0 1 5 2000-05-30 O00358 FOXE1_HUMAN FOXE1 Forkhead box protein E1 373 38.1 9 Nucleus 0 2 Bamforth-Lazarus syndrome; Thyroid cancer, non-medullary, 4 0 1 5 1998-07-15 O00442 RTCA_HUMAN RTCA RNA 3'-terminal phosphate cyclase 366 39.3 1 6.5.1.4 Nucleus 0 0 0 1 5 1997-11-01 O00461 GOLI4_HUMAN GOLIM4 Golgi integral membrane protein 4 696 81.9 3 Golgi apparatus; Endosome membrane; Membrane 1 0 0 1 5 2007-05-01 O00519 FAAH1_HUMAN FAAH Fatty-acid amide hydrolase 1 579 63.1 1 3.5.1.99 Endomembrane system; Cytoplasm 1 0 0 1 5 2000-05-30 O14513 NCKP5_HUMAN NCKAP5 Nck-associated protein 5 1909 208.5 2 0 0 0 1 5 2002-04-16 O14514 AGRB1_HUMAN ADGRB1 Adhesion G protein-coupled receptor B1 1584 173.5 8 Cell membrane; Cell projection; Cell junction; Postsynaptic density 7 0 0 1 5 2000-12-01 O14576 DC1I1_HUMAN DYNC1I1 Cytoplasmic dynein 1 intermediate chain 1 645 73 7 Cytoplasm; Chromosome 0 0 0 1 5 2000-05-30 O14610 GBGT2_HUMAN GNGT2 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 69 7.7 17 Cell membrane 0 0 0 1 5 1998-07-15 O14771 ZN213_HUMAN ZNF213 Zinc finger protein 213 459 51.3 16 Nucleus 0 0 0 1 5 2001-01-24 O14817 TSN4_HUMAN TSPAN4 Tetraspanin-4 238 26.1 11 Cell membrane 4 0 0 1 5 1998-07-15 O14894 T4S5_HUMAN TM4SF5 Transmembrane 4 L6 family member 5 197 20.8 17 Lysosome membrane; Cell membrane 4 0 0 1 5 2000-12-01 O14981 BTAF1_HUMAN BTAF1 TATA-binding protein-associated factor 172 1849 206.9 10 3.6.4.- Nucleus 0 0 0 1 5 2000-12-01 O14983 AT2A1_HUMAN ATP2A1 Sarcoplasmic/endoplasmic reticulum calcium ATPase 1 1001 110.3 16 7.2.2.10 Endoplasmic reticulum membrane; Sarcoplasmic reticulum membrane 10 1 Brody disease 0 1 5 2000-12-01 O14986 PI51B_HUMAN PIP5K1B Phosphatidylinositol 4-phosphate 5-kinase type-1 beta 540 61 9 2.7.1.68 Cytoplasm; Cell membrane; Endomembrane system 0 0 0 1 5 2005-10-25 O15042 SR140_HUMAN U2SURP U2 snRNP-associated SURP motif-containing protein 1029 118.3 3 Nucleus 0 0 0 1 5 2007-03-06 O15079 SNPH_HUMAN SNPH Syntaphilin 494 53.5 20 Membrane; Synapse 1 0 0 1 5 2002-06-06 O15121 DEGS1_HUMAN DEGS1 Sphingolipid delta(4)-desaturase DES1 323 37.9 1 1.14.19.17 Mitochondrion membrane; Endoplasmic reticulum membrane 6 1 Leukodystrophy, hypomyelinating, 18 0 1 5 2007-12-04 O15204 ADEC1_HUMAN ADAMDEC1 ADAM DEC1 470 52.8 8 3.4.24.- Secreted 0 0 0 1 5 2004-12-07 O15303 GRM6_HUMAN GRM6 Metabotropic glutamate receptor 6 877 95.5 5 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell projection 7 1 Night blindness, congenital stationary, 1B 0 1 5 1998-07-15 O15304 SIVA_HUMAN SIVA1 Apoptosis regulatory protein Siva 175 18.7 14 Cytoplasm; Nucleus 0 0 0 1 5 2003-05-23 O15354 GPR37_HUMAN GPR37 Prosaposin receptor GPR37 613 67.1 7 Cell projection; Synapse; Cell membrane; Endoplasmic reticulum membrane 7 0 0 1 5 2001-01-11 O15427 MOT4_HUMAN SLC16A3 Monocarboxylate transporter 4 465 49.5 17 Cell membrane; Basolateral cell membrane 12 0 0 1 5 2000-05-30 O15479 MAGB2_HUMAN MAGEB2 Melanoma-associated antigen B2 319 35.3 X 0 0 0 1 5 1998-12-15 O15481 MAGB4_HUMAN MAGEB4 Melanoma-associated antigen B4 346 38.9 X Cytoplasm 0 0 0 1 5 1998-12-15 O15522 NKX28_HUMAN NKX2-8 Homeobox protein Nkx-2.8 239 25.9 14 Nucleus 0 0 0 1 5 1999-07-15 O15535 ZSC9_HUMAN ZSCAN9 Zinc finger and SCAN domain-containing protein 9 394 46 6 Nucleus 0 0 0 1 5 2000-12-01 O15547 P2RX6_HUMAN P2RX6 P2X purinoceptor 6 441 48.8 22 Cell membrane; Endoplasmic reticulum; Nucleus; Nucleus inner membrane 2 0 0 1 5 1998-12-15 O43149 ZZEF1_HUMAN ZZEF1 Zinc finger ZZ-type and EF-hand domain-containing protein 1 2961 331.1 17 0 0 0 1 5 2007-05-29 O43182 RHG06_HUMAN ARHGAP6 Rho GTPase-activating protein 6 974 105.9 X Cytoplasm 0 0 0 1 5 1999-07-15 O43184 ADA12_HUMAN ADAM12 Disintegrin and metalloproteinase domain-containing protein 12 909 99.5 10 3.4.24.- Cell membrane 1 0 0 1 5 2000-05-30 O43248 HXC11_HUMAN HOXC11 Homeobox protein Hox-C11 304 33.7 12 Nucleus 0 0 0 1 5 1998-07-15 O43286 B4GT5_HUMAN B4GALT5 Beta-1,4-galactosyltransferase 5 388 45.1 20 2.4.1.- Golgi apparatus 1 0 0 1 5 2001-02-21 O43309 ZSC12_HUMAN ZSCAN12 Zinc finger and SCAN domain-containing protein 12 611 71 6 Nucleus 0 0 0 1 5 2000-12-01 O43364 HXA2_HUMAN HOXA2 Homeobox protein Hox-A2 376 41 7 Nucleus 0 2 Microtia, hearing impairment, and cleft palate; Microtia with or without hearing impairment 0 1 5 1999-07-15 O43374 RASL2_HUMAN RASA4 Ras GTPase-activating protein 4 803 90.5 7 Cytoplasm; Cell membrane 0 0 0 1 5 2001-05-04 O43490 PROM1_HUMAN PROM1 Prominin-1 865 97.2 4 Apical cell membrane; Cell projection; Endoplasmic reticulum; Endoplasmic reticulum-Golgi intermediate compartment 5 4 Retinitis pigmentosa 41; Cone-rod dystrophy 12; Stargardt disease 4; Macular dystrophy, retinal, 2 0 1 5 2001-02-21 O43511 S26A4_HUMAN SLC26A4 Pendrin 780 85.7 7 Cell membrane; Apical cell membrane 12 2 Pendred syndrome; Deafness, autosomal recessive, 4 0 1 5 1999-07-15 O43541 SMAD6_HUMAN SMAD6 SMAD family member 6 496 53.5 15 Nucleus; Cytoplasm 0 3 Aortic valve disease 2; Craniosynostosis 7; Radioulnar synostosis, non-syndromic 0 1 5 2001-05-04 O43561 LAT_HUMAN LAT Linker for activation of T-cells family member 1 262 27.9 16 Cell membrane 1 1 Immunodeficiency 52 0 1 5 2001-06-01 O43623 SNAI2_HUMAN SNAI2 Zinc finger protein SNAI2 268 30 8 Nucleus; Cytoplasm 0 2 Waardenburg syndrome 2D; Piebald trait 0 1 5 2000-12-01 O43688 PLPP2_HUMAN PLPP2 Phospholipid phosphatase 2 288 32.6 19 3.1.3.-, 3.1.3.4 Membrane; Cell membrane; Early endosome membrane; Endoplasmic reticulum membrane 6 0 0 1 5 2004-03-15 O43790 KRT86_HUMAN KRT86 Keratin, type II cuticular Hb6 486 53.5 12 0 1 Monilethrix 1 0 1 5 2004-03-29 O43933 PEX1_HUMAN PEX1 Peroxisomal ATPase PEX1 1283 142.9 7 3.6.4.- Cytoplasm; Peroxisome membrane 0 4 Peroxisome biogenesis disorder complementation group 1; Peroxisome biogenesis disorder 1A; Peroxisome biogenesis disorder 1B; Heimler syndrome 1 0 1 5 2000-05-30 O60237 MYPT2_HUMAN PPP1R12B Protein phosphatase 1 regulatory subunit 12B 982 110.4 1 Cytoplasm 0 0 0 1 5 2004-01-16 O60269 GRIN2_HUMAN GPRIN2 G protein-regulated inducer of neurite outgrowth 2 458 47.5 10 0 0 0 1 5 1999-07-15 O60296 TRAK2_HUMAN TRAK2 Trafficking kinesin-binding protein 2 914 101.4 2 Cytoplasm; Early endosome; Mitochondrion 0 0 0 1 5 2001-02-21 O60391 NMD3B_HUMAN GRIN3B Glutamate receptor ionotropic, NMDA 3B 1043 113 19 Cell membrane; Postsynaptic cell membrane 3 0 0 1 5 2004-08-31 O60478 G137B_HUMAN GPR137B Integral membrane protein GPR137B 399 45.6 1 Lysosome membrane 7 0 0 1 5 2003-11-07 O60488 ACSL4_HUMAN ACSL4 Long-chain-fatty-acid--CoA ligase 4 711 79.2 X 6.2.1.3 Mitochondrion outer membrane; Endoplasmic reticulum membrane; Cell membrane 1 2 Intellectual developmental disorder, X-linked 63; AMME complex 0 1 5 1998-12-15 O60613 SEP15_HUMAN SELENOF Selenoprotein F 165 18.1 1 Endoplasmic reticulum lumen 0 0 0 1 5 1999-07-15 O60664 PLIN3_HUMAN PLIN3 Perilipin-3 434 47.1 19 Lipid droplet; Endosome membrane; Cytoplasm 0 0 0 1 5 2000-05-30 O60806 TBX19_HUMAN TBX19 T-box transcription factor TBX19 448 48.2 1 Nucleus 0 1 ACTH deficiency, isolated 0 1 5 2000-05-30 O60812 HNRC1_HUMAN HNRNPCL1 Heterogeneous nuclear ribonucleoprotein C-like 1 293 32.1 1 Nucleus 0 0 0 1 5 2002-05-02 O75056 SDC3_HUMAN SDC3 Syndecan-3 442 45.5 1 Cell membrane 1 0 0 1 5 2000-05-30 O75074 LRP3_HUMAN LRP3 Low-density lipoprotein receptor-related protein 3 770 82.9 19 Membrane 1 0 0 1 5 2004-04-13 O75093 SLIT1_HUMAN SLIT1 Slit homolog 1 protein 1534 167.9 10 Secreted 0 0 0 1 5 2004-03-15 O75094 SLIT3_HUMAN SLIT3 Slit homolog 3 protein 1523 167.7 5 Secreted 0 0 0 1 5 2004-03-15 O75204 TM127_HUMAN TMEM127 Transmembrane protein 127 238 25.8 2 Cell membrane; Cytoplasm 3 1 Pheochromocytoma 0 1 5 2006-10-03 O75293 GA45B_HUMAN GADD45B Growth arrest and DNA damage-inducible protein GADD45 beta 160 17.8 19 0 0 0 1 5 1999-07-15 O75298 RTN2_HUMAN RTN2 Reticulon-2 545 59.3 19 Endoplasmic reticulum membrane; Sarcoplasmic reticulum membrane; Cell membrane; Cytoplasm 2 2 Spastic paraplegia 12, autosomal dominant; Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity 0 1 5 2001-04-27 O75310 UDB11_HUMAN UGT2B11 UDP-glucuronosyltransferase 2B11 529 61 4 2.4.1.17 Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 1998-12-15 O75323 NIPS2_HUMAN NIPSNAP2 Protein NipSnap homolog 2 286 33.7 7 Mitochondrion matrix 0 0 0 1 5 2001-09-26 O75352 MPU1_HUMAN MPDU1 Mannose-P-dolichol utilization defect 1 protein 247 26.6 17 Membrane 7 1 Congenital disorder of glycosylation 1F 0 1 5 2000-12-08 O75387 LAT3_HUMAN SLC43A1 Large neutral amino acids transporter small subunit 3 559 61.5 11 Cell membrane; Apical cell membrane; Endoplasmic reticulum membrane 12 0 0 1 5 2004-11-23 O75427 LRCH4_HUMAN LRCH4 Leucine-rich repeat and calponin homology domain-containing protein 4 683 73.5 7 Cell membrane 1 0 0 1 5 2004-06-21 O75431 MTX2_HUMAN MTX2 Metaxin-2 263 29.8 2 Mitochondrion outer membrane; Mitochondrion 0 1 Mandibuloacral dysplasia progeroid syndrome 0 1 5 2001-02-21 O75444 MAF_HUMAN MAF Transcription factor Maf 373 38.5 16 Nucleus 0 2 Cataract 21, multiple types; Ayme-Gripp syndrome 0 1 5 2002-07-11 O75452 RDH16_HUMAN RDH16 Retinol dehydrogenase 16 317 35.7 12 1.1.1.105, 1.1.1.209, 1.1.1.315, 1.1.1.53 Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2007-10-23 O75528 TADA3_HUMAN TADA3 Transcriptional adapter 3 432 48.9 3 Nucleus 0 0 0 1 5 2004-03-29 O75712 CXB3_HUMAN GJB3 Gap junction beta-3 protein 270 30.8 1 Cell membrane; Cell junction 4 2 Erythrokeratodermia variabilis et progressiva 1; Deafness, autosomal dominant, 2B 0 1 5 1998-12-15 O75829 CNMD_HUMAN CNMD Leukocyte cell-derived chemotaxin 1 334 37.1 13 Secreted 1 0 0 1 5 2001-08-29 O75845 SC5D_HUMAN SC5D Lathosterol oxidase 299 35.3 11 1.14.19.20 Endoplasmic reticulum membrane 4 1 Lathosterolosis 0 1 5 1999-07-15 O75915 PRAF3_HUMAN ARL6IP5 PRA1 family protein 3 188 21.6 3 Endoplasmic reticulum membrane; Cell membrane; Cytoplasm 4 0 0 1 5 2005-01-04 O75916 RGS9_HUMAN RGS9 Regulator of G protein signaling 9 674 77 17 Membrane 0 1 Prolonged electroretinal response suppression 1 0 1 5 2000-05-30 O76014 KRT37_HUMAN KRT37 Keratin, type I cuticular Ha7 449 49.7 17 0 0 0 1 5 2000-05-30 O76062 ERG24_HUMAN TM7SF2 Delta(14)-sterol reductase TM7SF2 418 46.4 11 1.3.1.70 Microsome membrane; Endoplasmic reticulum membrane 7 0 0 1 5 2002-01-31 O94776 MTA2_HUMAN MTA2 Metastasis-associated protein MTA2 668 75 11 Nucleus 0 0 0 1 5 2003-02-28 O94823 AT10B_HUMAN ATP10B Phospholipid-transporting ATPase VB 1461 165.4 5 7.6.2.1 Late endosome membrane; Lysosome membrane; Endoplasmic reticulum membrane 10 0 0 1 5 2000-05-30 O94827 PKHG5_HUMAN PLEKHG5 Pleckstrin homology domain-containing family G member 5 1006 111.2 1 Cytoplasm; Cell membrane; Cell junction; Cell projection 0 2 Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate C 0 1 5 2007-10-23 O94887 FARP2_HUMAN FARP2 FERM, ARHGEF and pleckstrin domain-containing protein 2 1054 119.9 2 0 0 0 1 5 2006-04-18 O94941 RNF37_HUMAN UBOX5 RING finger protein 37 541 59 20 2.3.2.27 Nucleus 0 0 0 1 5 2002-06-06 O95067 CCNB2_HUMAN CCNB2 G2/mitotic-specific cyclin-B2 398 45.3 15 0 0 0 1 5 1999-07-15 O95183 VAMP5_HUMAN VAMP5 Vesicle-associated membrane protein 5 116 12.8 2 Cell membrane; Endomembrane system; Golgi apparatus 1 0 0 1 5 2001-02-21 O95196 CSPG5_HUMAN CSPG5 Chondroitin sulfate proteoglycan 5 566 60 3 Cell membrane; Synaptic cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell surface; Secreted 1 0 0 1 5 2005-09-27 O95232 LC7L3_HUMAN LUC7L3 Luc7-like protein 3 432 51.5 17 Nucleus speckle 0 0 0 1 5 2000-05-30 O95263 PDE8B_HUMAN PDE8B High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B 885 99 5 3.1.4.53 0 2 Striatal degeneration, autosomal dominant 1; Primary pigmented nodular adrenocortical disease 3 0 1 5 2000-05-30 O95388 CCN4_HUMAN CCN4 CCN family member 4 367 40.3 8 Secreted 0 0 0 1 5 2003-08-15 O95395 GCNT3_HUMAN GCNT3 Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 3 438 50.9 15 2.4.1.102, 2.4.1.148, 2.4.1.150 Golgi apparatus membrane 1 0 0 1 5 2007-05-29 O95471 CLD7_HUMAN CLDN7 Claudin-7 211 22.4 17 Cell membrane; Basolateral cell membrane; Cell junction 4 0 0 1 5 2000-05-30 O95498 VNN2_HUMAN VNN2 Pantetheine hydrolase VNN2 520 58.5 6 3.5.1.92 Cell membrane 0 0 0 1 5 2001-04-27 O95817 BAG3_HUMAN BAG3 BAG family molecular chaperone regulator 3 575 61.6 10 Nucleus; Cytoplasm 0 4 Myopathy, myofibrillar, 6; Cardiomyopathy, dilated, 1HH; Neuronopathy, distal hereditary motor, autosomal dominant 15; Charcot-Marie-Tooth disease, axonal, type 2JJ 0 1 5 2001-01-11 O95865 DDAH2_HUMAN DDAH2 Putative hydrolase DDAH2 285 29.6 6 3.-.-.- Cytoplasm; Mitochondrion 0 0 0 1 5 2000-05-30 O95935 TBX18_HUMAN TBX18 T-box transcription factor TBX18 607 64.8 6 Nucleus 0 1 Congenital anomalies of kidney and urinary tract 2 0 1 5 2000-05-30 O95954 FTCD_HUMAN FTCD Formimidoyltransferase-cyclodeaminase 541 58.9 21 Cytoplasm; Golgi apparatus 0 1 Glutamate formiminotransferase deficiency 0 1 5 2000-05-30 O95968 SG1D1_HUMAN SCGB1D1 Secretoglobin family 1D member 1 90 9.9 11 Secreted 0 0 0 1 5 2000-05-30 O96014 WNT11_HUMAN WNT11 Protein Wnt-11 354 39.2 11 Secreted 0 0 0 1 5 1999-07-15 P00540 MOS_HUMAN MOS Proto-oncogene serine/threonine-protein kinase mos 346 37.8 8 2.7.11.1 Cytoplasm 0 1 Oocyte/zygote/embryo maturation arrest 20 0 1 5 1986-07-21 P01602 KV105_HUMAN IGKV1-5 Immunoglobulin kappa variable 1-5 117 12.8 2 Secreted; Cell membrane 0 0 0 1 5 1986-07-21 P01701 LV151_HUMAN IGLV1-51 Immunoglobulin lambda variable 1-51 117 12.2 22 Secreted; Cell membrane 0 0 0 1 5 1986-07-21 P01705 LV223_HUMAN IGLV2-23 Immunoglobulin lambda variable 2-23 113 11.9 22 Secreted; Cell membrane 0 0 0 1 5 1986-07-21 P01706 LV211_HUMAN IGLV2-11 Immunoglobulin lambda variable 2-11 119 12.6 22 Secreted; Cell membrane 0 0 0 1 5 1986-07-21 P02810 PRPC_HUMAN PRH1 Salivary acidic proline-rich phosphoprotein 1/2 166 17 12 Secreted 0 0 0 1 5 1986-07-21 P02814 SMR3B_HUMAN SMR3B Submaxillary gland androgen-regulated protein 3B 79 8.2 4 Secreted 0 0 0 1 5 1986-07-21 P04554 PRM2_HUMAN PRM2 Protamine-2 102 13.1 16 Nucleus; Chromosome 0 0 0 1 5 1987-08-13 P04733 MT1F_HUMAN MT1F Metallothionein-1F 61 6.1 16 0 0 0 1 5 1987-08-13 P06133 UD2B4_HUMAN UGT2B4 UDP-glucuronosyltransferase 2B4 528 60.5 4 2.4.1.17 Endoplasmic reticulum membrane 1 0 0 1 5 1988-01-01 P07205 PGK2_HUMAN PGK2 Phosphoglycerate kinase 2 417 44.8 6 2.7.2.3 Cytoplasm 0 0 0 1 5 1988-04-01 P07476 INVO_HUMAN IVL Involucrin 585 68.5 1 Cytoplasm 0 0 0 1 5 1988-04-01 P07585 PGS2_HUMAN DCN Decorin 359 39.7 12 Secreted 0 1 Corneal dystrophy, congenital stromal 0 1 5 1988-04-01 P07951 TPM2_HUMAN TPM2 Tropomyosin beta chain 284 32.9 9 Cytoplasm 0 3 Congenital myopathy 23; Arthrogryposis, distal, 1A; Arthrogryposis, distal, 2B4 0 1 5 1988-08-01 P08861 CEL3B_HUMAN CELA3B Chymotrypsin-like elastase family member 3B 270 29.3 1 3.4.21.70 0 0 0 1 5 1988-11-01 P08F94 PKHD1_HUMAN PKHD1 Fibrocystin 4074 446.7 6 Cell membrane; Cytoplasm; Cell projection; Chromosome; Apical cell membrane; Nucleus; Secreted; Endoplasmic reticulum; Golgi apparatus 1 1 Polycystic kidney disease 4, with or without polycystic liver disease 0 1 5 2010-05-18 P09016 HXD4_HUMAN HOXD4 Homeobox protein Hox-D4 255 27.9 2 Nucleus 0 0 0 1 5 1988-11-01 P0C0E4 RB40L_HUMAN RAB40AL Ras-related protein Rab-40A-like 278 31.2 X 3.6.5.2 Membrane; Cytoplasm; Mitochondrion 0 0 0 1 5 2005-09-13 P0C264 SBK3_HUMAN SBK3 Uncharacterized serine/threonine-protein kinase SBK3 359 38.5 19 2.7.11.1 0 0 0 1 5 2006-11-28 P0C7W6 CC172_HUMAN CCDC172 Coiled-coil domain-containing protein 172 258 31 10 Cytoplasm; Cell projection 0 0 0 1 5 2008-07-22 P0CG08 GPHRB_HUMAN GPHRB Golgi pH regulator B 455 52.9 1 Golgi apparatus membrane 9 0 0 1 5 2010-06-15 P0DP42 T225B_HUMAN TMEM225B Transmembrane protein 225B 221 25 7 Membrane 4 0 0 1 5 2017-05-10 P0DPK3 NT2NB_HUMAN NOTCH2NLB Notch homolog 2 N-terminal-like protein B 275 30.1 1 Secreted 0 0 0 1 5 2018-09-12 P0DTE5 UD2A2_HUMAN UGT2A2 UDP-glucuronosyltransferase 2A2 536 60.8 4 2.4.1.17 Endoplasmic reticulum membrane 2 0 0 1 5 2020-08-12 P0DW81 PACMP_HUMAN MARCHF6-DT Poly-ADP-ribosylation-amplifying and CtIP-maintaining micropeptide 44 4.9 5 Nucleus; Chromosome 0 0 0 1 5 2022-10-12 P10124 SRGN_HUMAN SRGN Serglycin 158 17.7 10 Cytoplasmic granule; Cytolytic granule; Secreted; Golgi apparatus 0 0 0 1 5 1989-07-01 P10696 PPBN_HUMAN ALPG Alkaline phosphatase, germ cell type 532 57.4 2 3.1.3.1 Cell membrane 0 0 0 1 5 1990-04-01 P10914 IRF1_HUMAN IRF1 Interferon regulatory factor 1 325 36.5 5 Nucleus; Cytoplasm 0 2 Gastric cancer; Immunodeficiency 117 0 1 5 1989-07-01 P10966 CD8B_HUMAN CD8B T-cell surface glycoprotein CD8 beta chain 210 23.7 2 Cell membrane 1 0 0 1 5 1989-07-01 P11487 FGF3_HUMAN FGF3 Fibroblast growth factor 3 239 26.9 11 Secreted 0 1 Deafness with labyrinthine aplasia, microtia and microdontia 0 1 5 1989-10-01 P13584 CP4B1_HUMAN CYP4B1 Cytochrome P450 4B1 511 59 1 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 0 0 0 1 5 1990-01-01 P13611 CSPG2_HUMAN VCAN Versican core protein 3396 372.8 5 Secreted; Cell projection 0 1 Wagner vitreoretinopathy 0 1 5 1990-01-01 P13682 ZNF35_HUMAN ZNF35 Zinc finger protein 35 527 59.1 3 Nucleus 0 0 0 1 5 1990-04-01 P13942 COBA2_HUMAN COL11A2 Collagen alpha-2(XI) chain 1736 171.8 6 Secreted 0 5 Otospondylomegaepiphyseal dysplasia, autosomal dominant; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Deafness, autosomal dominant, 13; Deafness, autosomal recessive, 53; Fibrochondrogenesis 2 0 1 5 1990-01-01 P14222 PERF_HUMAN PRF1 Perforin-1 555 61.4 10 Cytolytic granule; Secreted; Cell membrane; Endosome lumen 2 1 Hemophagocytic lymphohistiocytosis, familial, 2 0 1 5 1990-01-01 P14651 HXB3_HUMAN HOXB3 Homeobox protein Hox-B3 431 44.3 17 Nucleus 0 0 0 1 5 1990-04-01 P15259 PGAM2_HUMAN PGAM2 Phosphoglycerate mutase 2 253 28.8 7 5.4.2.11, 5.4.2.4 0 1 Glycogen storage disease 10 0 1 5 1990-04-01 P16519 NEC2_HUMAN PCSK2 Neuroendocrine convertase 2 638 70.6 20 3.4.21.94 Cytoplasmic vesicle; Secreted 0 0 0 1 5 1990-08-01 P17014 ZNF12_HUMAN ZNF12 Zinc finger protein 12 697 81.2 7 Nucleus 0 0 0 1 5 1990-08-01 P17036 ZNF3_HUMAN ZNF3 Zinc finger protein 3 446 50.9 7 Nucleus 0 0 0 1 5 1990-08-01 P17152 TMM11_HUMAN TMEM11 Transmembrane protein 11, mitochondrial 192 21.5 17 Mitochondrion inner membrane 2 0 0 1 5 1990-08-01 P17275 JUNB_HUMAN JUNB Transcription factor JunB 347 35.9 19 Nucleus 0 0 0 1 5 1990-08-01 P17544 ATF7_HUMAN ATF7 Cyclic AMP-dependent transcription factor ATF-7 483 51.8 12 Nucleus; Chromosome 0 0 0 1 5 1990-08-01 P18428 LBP_HUMAN LBP Lipopolysaccharide-binding protein 481 53.4 20 Secreted; Cytoplasmic granule membrane 0 0 0 1 5 1990-11-01 P18847 ATF3_HUMAN ATF3 Cyclic AMP-dependent transcription factor ATF-3 181 20.6 1 Nucleus 0 0 0 1 5 1990-11-01 P19105 ML12A_HUMAN MYL12A Myosin regulatory light chain 12A 171 19.8 18 0 0 0 1 5 1990-11-01 P19622 HME2_HUMAN EN2 Homeobox protein engrailed-2 333 34.2 7 Nucleus 0 0 0 1 5 1991-02-01 P19823 ITIH2_HUMAN ITIH2 Inter-alpha-trypsin inhibitor heavy chain H2 946 106.5 10 Secreted 0 0 0 1 5 1991-02-01 P20336 RAB3A_HUMAN RAB3A Ras-related protein Rab-3A 220 25 19 3.6.5.2 Cytoplasm; Lysosome; Cytoplasmic vesicle; Cell projection; Cell membrane; Presynapse; Postsynapse 0 1 Spinocerebellar ataxia 52 0 1 5 1991-02-01 P20396 TRH_HUMAN TRH Pro-thyrotropin-releasing hormone 242 27.4 3 Secreted 0 0 0 1 5 1991-02-01 P20648 ATP4A_HUMAN ATP4A Potassium-transporting ATPase alpha chain 1 1035 114.1 19 7.2.2.19 Apical cell membrane 10 0 0 1 5 1991-02-01 P20800 EDN2_HUMAN EDN2 Endothelin-2 178 20 1 Secreted 0 0 0 1 5 1991-02-01 P21145 MAL_HUMAN MAL Myelin and lymphocyte protein 153 16.7 2 Membrane; Cell membrane 4 1 Leukodystrophy, hypomyelinating, 28 0 1 5 1991-05-01 P21754 ZP3_HUMAN ZP3 Zona pellucida sperm-binding protein 3 424 47 7 Cell membrane 1 1 Oocyte/zygote/embryo maturation arrest 3 0 1 5 1991-05-01 P22003 BMP5_HUMAN BMP5 Bone morphogenetic protein 5 454 51.7 6 Secreted 0 0 0 1 5 1991-08-01 P22083 FUT4_HUMAN FUT4 Alpha-(1,3)-fucosyltransferase 4 530 59.1 11 Golgi apparatus 1 0 0 1 5 1991-08-01 P22309 UD11_HUMAN UGT1A1 UDP-glucuronosyltransferase 1A1 533 59.6 2 2.4.1.17 Endoplasmic reticulum membrane; Cytoplasm 1 4 Gilbert syndrome; Transient familial neonatal hyperbilirubinemia; Crigler-Najjar syndrome 1; Crigler-Najjar syndrome 2 0 1 5 1991-08-01 P22612 KAPCG_HUMAN PRKACG cAMP-dependent protein kinase catalytic subunit gamma 351 40.4 9 2.7.11.11 0 1 Bleeding disorder, platelet-type, 19 0 1 5 1991-08-01 P23759 PAX7_HUMAN PAX7 Paired box protein Pax-7 505 55.1 1 Nucleus 0 2 Rhabdomyosarcoma 2; Congenital myopathy 19 0 1 5 1991-11-01 P24347 MMP11_HUMAN MMP11 Stromelysin-3 488 54.6 22 3.4.24.- Secreted 0 0 0 1 5 1992-03-01 P24386 RAE1_HUMAN CHM Rab proteins geranylgeranyltransferase component A 1 653 73.5 X Cytoplasm 0 1 Choroideremia 0 1 5 1992-03-01 P24390 ERD21_HUMAN KDELR1 ER lumen protein-retaining receptor 1 212 24.5 19 Golgi apparatus membrane; Cytoplasmic vesicle; Endoplasmic reticulum membrane; Endoplasmic reticulum-Golgi intermediate compartment membrane 7 0 0 1 5 1992-03-01 P24557 THAS_HUMAN TBXAS1 Thromboxane-A synthase 533 60.5 7 5.3.99.5 Endoplasmic reticulum membrane 4 1 Ghosal hematodiaphyseal dysplasia 0 1 5 1992-03-01 P25089 FPR3_HUMAN FPR3 N-formyl peptide receptor 3 353 40 19 Cell membrane 7 0 0 1 5 1992-05-01 P25800 RBTN1_HUMAN LMO1 Rhombotin-1 156 17.8 11 Nucleus 0 0 0 1 5 1992-05-01 P26371 KRA59_HUMAN KRTAP5-9 Keratin-associated protein 5-9 169 16.3 11 0 0 0 1 5 1992-08-01 P27544 CERS1_HUMAN CERS1 Ceramide synthase 1 350 39.5 19 Endoplasmic reticulum membrane 6 1 Epilepsy, progressive myoclonic 8 0 1 5 1992-08-01 P28290 ITPI2_HUMAN ITPRID2 Protein ITPRID2 1259 138.4 2 Cytoplasm 0 0 0 1 5 1992-12-01 P28328 PEX2_HUMAN PEX2 Peroxisome biogenesis factor 2 305 34.8 8 2.3.2.27, 2.3.2.36 Peroxisome membrane 5 3 Peroxisome biogenesis disorder complementation group 5; Peroxisome biogenesis disorder 5A; Peroxisome biogenesis disorder 5B 0 1 5 1992-12-01 P28838 AMPL_HUMAN LAP3 Cytosol aminopeptidase 519 56.2 4 3.4.11.1 Cytoplasm 0 0 0 1 5 1992-12-01 P29279 CCN2_HUMAN CCN2 CCN family member 2 349 38.1 6 Secreted 0 2 Kyphomelic dysplasia; Spondyloepimetaphyseal dysplasia, Li-Shao-Li type 0 1 5 1992-12-01 P30039 PBLD_HUMAN PBLD Phenazine biosynthesis-like domain-containing protein 288 31.8 10 0 0 0 1 5 1993-04-01 P30536 TSPO_HUMAN TSPO Translocator protein 169 18.8 22 Mitochondrion membrane 5 0 0 1 5 1993-04-01 P31146 COR1A_HUMAN CORO1A Coronin-1A 461 51 16 Cytoplasm; Cytoplasmic vesicle 0 1 Immunodeficiency 8 with lymphoproliferation 0 1 5 1993-07-01 P31270 HXA11_HUMAN HOXA11 Homeobox protein Hox-A11 313 34.5 7 Nucleus 0 1 Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 0 1 5 1993-07-01 P31273 HXC8_HUMAN HOXC8 Homeobox protein Hox-C8 242 27.8 12 Nucleus 0 0 0 1 5 1993-07-01 P31323 KAP3_HUMAN PRKAR2B cAMP-dependent protein kinase type II-beta regulatory subunit 418 46.3 7 Cytoplasm; Cell membrane 0 0 0 1 5 1993-07-01 P32189 GLPK_HUMAN GK Glycerol kinase 559 61.2 X 2.7.1.30 Mitochondrion outer membrane; Nucleus; Cytoplasm 1 1 Glycerol kinase deficiency 0 1 5 1993-10-01 P32243 OTX2_HUMAN OTX2 Homeobox protein OTX2 289 31.6 14 Nucleus 0 3 Microphthalmia, syndromic, 5; Pituitary hormone deficiency, combined, 6; Retinal dystrophy, early-onset, with or without pituitary dysfunction 0 1 5 1993-10-01 P33076 C2TA_HUMAN CIITA MHC class II transactivator 1130 123.4 16 2.3.1.-, 2.7.11.1 Nucleus 0 1 MHC class II deficiency 1 0 1 5 1993-10-01 P33402 GCYA2_HUMAN GUCY1A2 Guanylate cyclase soluble subunit alpha-2 732 81.8 11 4.6.1.2 Cytoplasm 0 0 0 1 5 1994-02-01 P33908 MA1A1_HUMAN MAN1A1 Mannosyl-oligosaccharide 1,2-alpha-mannosidase IA 653 73 6 3.2.1.113 Golgi apparatus membrane 1 0 0 1 5 1994-02-01 P34932 HSP74_HUMAN HSPA4 Heat shock 70 kDa protein 4 840 94.3 5 Cytoplasm 0 0 0 1 5 1994-02-01 P35368 ADA1B_HUMAN ADRA1B Alpha-1B adrenergic receptor 520 56.8 5 Nucleus membrane; Cell membrane; Cytoplasm; Membrane 7 0 0 1 5 1994-06-01 P35548 MSX2_HUMAN MSX2 Homeobox protein MSX-2 267 28.9 5 Nucleus 0 3 Parietal foramina 1; Parietal foramina with cleidocranial dysplasia; Craniosynostosis 2 0 1 5 1994-06-01 P35612 ADDB_HUMAN ADD2 Beta-adducin 726 80.9 2 Cytoplasm; Cell membrane 0 0 0 1 5 1994-06-01 P35626 GRK3_HUMAN GRK3 G protein-coupled receptor kinase 3 688 79.7 22 2.7.11.16 Postsynapse; Presynapse 0 0 0 1 5 1994-06-01 P35900 K1C20_HUMAN KRT20 Keratin, type I cytoskeletal 20 424 48.5 17 Cytoplasm 0 0 0 1 5 1994-06-01 P36268 GGT2_HUMAN GGT2P Inactive glutathione hydrolase 2 569 61.8 22 Cytoplasm; Endoplasmic reticulum 0 0 0 1 5 1994-06-01 P36269 GGT5_HUMAN GGT5 Glutathione hydrolase 5 proenzyme 586 62.3 22 3.4.19.13 Membrane 1 0 0 1 5 1994-06-01 P36575 ARRC_HUMAN ARR3 Arrestin-C 388 42.8 X Photoreceptor inner segment; Cell projection 0 1 Myopia 26, X-linked, female-limited 0 1 5 1994-06-01 P37058 DHB3_HUMAN HSD17B3 17-beta-hydroxysteroid dehydrogenase type 3 310 34.5 9 Endoplasmic reticulum 0 1 Male pseudohermaphrodism with gynecomastia 0 1 5 1994-06-01 P40123 CAP2_HUMAN CAP2 Adenylyl cyclase-associated protein 2 477 52.8 6 Cell membrane 0 1 Cardiomyopathy, dilated, 2I 0 1 5 1995-02-01 P40426 PBX3_HUMAN PBX3 Pre-B-cell leukemia transcription factor 3 434 47.2 9 Nucleus 0 0 0 1 5 1995-02-01 P41134 ID1_HUMAN ID1 DNA-binding protein inhibitor ID-1 155 16.1 20 Cytoplasm; Nucleus 0 0 0 1 5 1995-02-01 P41219 PERI_HUMAN PRPH Peripherin 470 53.7 12 Cytoplasm; Cell projection; Perikaryon 0 1 Amyotrophic lateral sclerosis 0 1 5 1995-02-01 P41236 IPP2_HUMAN PPP1R2 Protein phosphatase inhibitor 2 205 23 3 0 0 0 1 5 1995-02-01 P41439 FOLR3_HUMAN FOLR3 Folate receptor gamma 245 27.9 11 Secreted 0 0 0 1 5 1995-11-01 P41732 TSN7_HUMAN TSPAN7 Tetraspanin-7 249 27.6 X Membrane 4 1 Intellectual developmental disorder, X-linked 58 0 1 5 1995-11-01 P41970 ELK3_HUMAN ELK3 ETS domain-containing protein Elk-3 407 44.2 12 Nucleus 0 0 0 1 5 1995-11-01 P42167 LAP2B_HUMAN TMPO Lamina-associated polypeptide 2, isoforms beta/gamma 454 50.7 12 Nucleus inner membrane 1 0 0 1 5 1995-11-01 P42338 PK3CB_HUMAN PIK3CB Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform 1070 122.8 3 2.7.1.153 Cytoplasm; Nucleus 0 0 0 1 5 1995-11-01 P42772 CDN2B_HUMAN CDKN2B Cyclin-dependent kinase 4 inhibitor B 138 14.7 9 Cytoplasm 0 0 0 1 5 1995-11-01 P43080 GUC1A_HUMAN GUCA1A Guanylyl cyclase-activating protein 1 201 22.9 6 Membrane; Photoreceptor inner segment; Cell projection 0 2 Cone dystrophy 3; Cone-rod dystrophy 14 0 1 5 1995-11-01 P43234 CATO_HUMAN CTSO Cathepsin O 321 36 4 3.4.22.42 Lysosome 0 0 0 1 5 1995-11-01 P43360 MAGA6_HUMAN MAGEA6 Melanoma-associated antigen 6 314 34.9 X 0 0 0 1 5 1995-11-01 P46092 CCR10_HUMAN CCR10 C-C chemokine receptor type 10 362 38.4 17 Cell membrane 7 0 0 1 5 1995-11-01 P46721 SO1A2_HUMAN SLCO1A2 Solute carrier organic anion transporter family member 1A2 670 74.1 12 Cell membrane; Basal cell membrane 12 0 0 1 5 1995-11-01 P47901 V1BR_HUMAN AVPR1B Vasopressin V1b receptor 424 47 1 Cell membrane 7 0 0 1 5 1996-02-01 P48051 KCNJ6_HUMAN KCNJ6 G protein-activated inward rectifier potassium channel 2 423 48.5 21 Membrane 2 1 Keppen-Lubinsky syndrome 0 1 5 1996-02-01 P48378 RFX2_HUMAN RFX2 DNA-binding protein RFX2 723 80 19 Nucleus; Cytoplasm 0 0 0 1 5 1996-02-01 P48444 COPD_HUMAN ARCN1 Coatomer subunit delta 511 57.2 11 Cytoplasm; Golgi apparatus membrane; Cytoplasmic vesicle 0 1 Short stature-micrognathia syndrome 0 1 5 1996-02-01 P48448 AL3B2_HUMAN ALDH3B2 Aldehyde dehydrogenase family 3 member B2 385 42.6 11 1.2.1.3 Lipid droplet 0 0 0 1 5 1996-02-01 P48549 KCNJ3_HUMAN KCNJ3 G protein-activated inward rectifier potassium channel 1 501 56.6 2 Membrane 2 0 0 1 5 1996-02-01 P48553 TPC10_HUMAN TRAPPC10 Trafficking protein particle complex subunit 10 1259 142.2 21 Golgi apparatus 0 1 Neurodevelopmental disorder with microcephaly, short stature, and speech delay 0 1 5 1996-02-01 P48594 SPB4_HUMAN SERPINB4 Serpin B4 390 44.9 18 Cytoplasm 0 0 0 1 5 1996-02-01 P48634 PRC2A_HUMAN PRRC2A Protein PRRC2A 2157 228.9 6 Cytoplasm; Nucleus 0 0 0 1 5 1996-02-01 P48664 EAA4_HUMAN SLC1A6 Excitatory amino acid transporter 4 564 61.6 19 Cell membrane 8 0 0 1 5 1996-02-01 P48668 K2C6C_HUMAN KRT6C Keratin, type II cytoskeletal 6C 564 60 12 0 1 Palmoplantar keratoderma, non-epidermolytic, focal or diffuse 0 1 5 1996-02-01 P48681 NEST_HUMAN NES Nestin 1621 177.4 1 0 0 0 1 5 1996-02-01 P49006 MRP_HUMAN MARCKSL1 MARCKS-related protein 195 19.5 1 Cytoplasm; Cell membrane 0 0 0 1 5 1996-02-01 P49184 DNSL1_HUMAN DNASE1L1 Deoxyribonuclease-1-like 1 302 33.9 X 3.1.21.- Endoplasmic reticulum 0 0 0 1 5 1996-02-01 P49918 CDN1C_HUMAN CDKN1C Cyclin-dependent kinase inhibitor 1C 316 32.2 11 Nucleus 0 2 Beckwith-Wiedemann syndrome; Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 0 1 5 1996-10-01 P49961 ENTP1_HUMAN ENTPD1 Ectonucleoside triphosphate diphosphohydrolase 1 510 58 10 3.6.1.5 Membrane 2 1 Spastic paraplegia 64, autosomal recessive 0 1 5 1996-10-01 P50222 MEOX2_HUMAN MEOX2 Homeobox protein MOX-2 304 33.6 7 Nucleus; Nucleus speckle 0 0 0 1 5 1996-10-01 P50539 MXI1_HUMAN MXI1 Max-interacting protein 1 228 26.1 10 Nucleus 0 1 Prostate cancer 0 1 5 1996-10-01 P51164 ATP4B_HUMAN ATP4B Potassium-transporting ATPase subunit beta 291 33.4 13 Apical cell membrane; Cell membrane 1 0 0 1 5 1996-10-01 P51178 PLCD1_HUMAN PLCD1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 756 85.7 3 3.1.4.11 Cell membrane; Cytoplasm 0 1 Nail disorder, non-syndromic congenital, 3 0 1 5 1996-10-01 P51451 BLK_HUMAN BLK Tyrosine-protein kinase Blk 505 57.7 8 2.7.10.2 Cell membrane 0 1 Maturity-onset diabetes of the young 11 0 1 5 1996-10-01 P51511 MMP15_HUMAN MMP15 Matrix metalloproteinase-15 669 75.8 16 3.4.24.- Membrane 1 0 0 1 5 1996-10-01 P51679 CCR4_HUMAN CCR4 C-C chemokine receptor type 4 360 41.4 3 Cell membrane 7 0 0 1 5 1996-10-01 P51808 DYLT3_HUMAN DYNLT3 Dynein light chain Tctex-type 3 116 13.1 X Nucleus; Cytoplasm; Chromosome 0 0 0 1 5 1996-10-01 P51811 XK_HUMAN XK Endoplasmic reticulum membrane adapter protein XK 444 50.9 X Endoplasmic reticulum membrane 10 1 McLeod syndrome 0 1 5 1996-10-01 P51814 ZNF41_HUMAN ZNF41 Zinc finger protein 41 821 93.7 X Nucleus 0 0 0 1 5 1996-10-01 P51828 ADCY7_HUMAN ADCY7 Adenylate cyclase type 7 1080 120.3 16 4.6.1.1 Membrane 12 0 0 1 5 1996-10-01 P51854 TKTL1_HUMAN TKTL1 Transketolase-like protein 1 596 65.3 X 2.2.1.1 Cytoplasm 0 0 0 1 5 1996-10-01 P52742 ZN135_HUMAN ZNF135 Zinc finger protein 135 658 75.3 19 Nucleus 0 0 0 1 5 1996-10-01 P52744 ZN138_HUMAN ZNF138 Zinc finger protein 138 262 30.6 7 Nucleus 0 0 0 1 5 1996-10-01 P52823 STC1_HUMAN STC1 Stanniocalcin-1 247 27.6 8 Secreted 0 0 0 1 5 1996-10-01 P53609 PGTB1_HUMAN PGGT1B Geranylgeranyl transferase type-1 subunit beta 377 42.4 5 2.5.1.59 0 0 0 1 5 1996-10-01 P53672 CRBA2_HUMAN CRYBA2 Beta-crystallin A2 197 22.1 2 0 1 Cataract 42 0 1 5 1996-10-01 P53675 CLH2_HUMAN CLTCL1 Clathrin heavy chain 2 1640 187 22 Cytoplasmic vesicle membrane; Membrane 0 0 0 1 5 1996-10-01 P53677 AP3M2_HUMAN AP3M2 AP-3 complex subunit mu-2 418 47 8 Golgi apparatus; Cytoplasmic vesicle membrane 0 0 0 1 5 1996-10-01 P53794 SC5A3_HUMAN SLC5A3 Sodium/myo-inositol cotransporter 718 79.7 21 Apical cell membrane; Basolateral cell membrane 12 0 0 1 5 1996-10-01 P54259 ATN1_HUMAN ATN1 Atrophin-1 1190 125.4 12 Nucleus; Cytoplasm; Cell junction 0 2 Dentatorubral-pallidoluysian atrophy; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies 0 1 5 1996-10-01 P55060 XPO2_HUMAN CSE1L Exportin-2 971 110.4 20 Cytoplasm; Nucleus 0 0 0 1 5 1996-10-01 P55283 CADH4_HUMAN CDH4 Cadherin-4 916 100.3 20 Cell membrane 1 0 0 1 5 1996-10-01 P55916 UCP3_HUMAN UCP3 Putative mitochondrial transporter UCP3 312 34.2 11 Mitochondrion inner membrane 6 1 Obesity 0 1 5 1997-11-01 P56557 TM50B_HUMAN TMEM50B Transmembrane protein 50B 158 17.9 21 Endoplasmic reticulum membrane; Golgi apparatus membrane 4 0 0 1 5 1998-07-15 P56748 CLD8_HUMAN CLDN8 Claudin-8 225 24.8 21 Cell junction; Cell membrane 4 0 0 1 5 2000-05-30 P57053 H2BFS_HUMAN H2BC12L Histone H2B type F-S 126 13.9 21 Nucleus; Chromosome 0 0 0 1 5 2000-12-01 P57057 G6PT2_HUMAN SLC37A1 Glucose-6-phosphate exchanger SLC37A1 533 57.6 21 Endoplasmic reticulum membrane 12 0 0 1 5 2000-12-01 P57073 SOX8_HUMAN SOX8 Transcription factor SOX-8 446 47.3 16 Nucleus 0 0 0 1 5 2000-12-01 P57078 RIPK4_HUMAN RIPK4 Receptor-interacting serine/threonine-protein kinase 4 832 91.6 21 2.7.11.1 Cytoplasm; Membrane 0 2 Bartsocas-Papas syndrome; CHAND syndrome 0 1 5 2000-12-01 P57087 JAM2_HUMAN JAM2 Junctional adhesion molecule B 298 33.2 21 Cell membrane; Cell junction 1 1 Basal ganglia calcification, idiopathic, 8, autosomal recessive 0 1 5 2000-12-01 P57796 CABP4_HUMAN CABP4 Calcium-binding protein 4 275 30.4 11 Cytoplasm; Presynapse 0 1 Cone-rod synaptic disorder, congenital non-progressive 0 1 5 2001-04-27 P58107 EPIPL_HUMAN EPPK1 Epiplakin 5088 555.7 8 Cytoplasm; Cell junction; Cell projection; Apicolateral cell membrane; Basolateral cell membrane 0 0 0 1 5 2001-06-01 P58304 VSX2_HUMAN VSX2 Visual system homeobox 2 361 39.4 14 Nucleus 0 3 Microphthalmia, isolated, 2; Microphthalmia with cataracts and iris abnormalities; Microphthalmia/Coloboma 3 0 1 5 2001-09-26 P59190 RAB15_HUMAN RAB15 Ras-related protein Rab-15 212 24.4 14 3.6.5.2 Cell membrane 0 0 0 1 5 2003-01-10 P59510 ATS20_HUMAN ADAMTS20 A disintegrin and metalloproteinase with thrombospondin motifs 20 1910 214.7 12 3.4.24.- Secreted; Cell projection 0 0 0 1 5 2003-04-04 P59542 T2R19_HUMAN TAS2R19 Taste receptor type 2 member 19 299 33.9 12 Membrane 7 0 0 1 5 2003-04-11 P59817 Z280A_HUMAN ZNF280A Zinc finger protein 280A 542 60.6 22 Nucleus 0 0 0 1 5 2003-08-15 P59923 ZN445_HUMAN ZNF445 Zinc finger protein 445 1031 119 3 Nucleus 0 0 0 1 5 2003-10-10 P59990 KR121_HUMAN KRTAP12-1 Keratin-associated protein 12-1 96 9.7 21 0 0 0 1 5 2003-11-07 P60008 HILS1_HUMAN H1-9P Putative histone H1.9 231 25.6 Nucleus; Chromosome 0 0 0 5 5 2003-11-14 P60507 EFC1_HUMAN ERVFC1 Endogenous retrovirus group FC1 Env polyprotein 584 65.2 Virion 1 0 0 1 5 2004-03-01 P60510 PP4C_HUMAN PPP4C Serine/threonine-protein phosphatase 4 catalytic subunit 307 35.1 16 3.1.3.16 Cytoplasm; Nucleus 0 0 0 1 5 2004-03-01 P60602 ROMO1_HUMAN ROMO1 Reactive oxygen species modulator 1 79 8.2 20 Mitochondrion inner membrane 1 0 0 1 5 2004-03-15 P60660 MYL6_HUMAN MYL6 Myosin light polypeptide 6 151 16.9 12 0 0 0 1 5 2004-03-29 P60852 ZP1_HUMAN ZP1 Zona pellucida sperm-binding protein 1 638 70 11 Cell membrane 1 1 Oocyte/zygote/embryo maturation arrest 1 0 1 5 2004-04-13 P61457 PHS_HUMAN PCBD1 Pterin-4-alpha-carbinolamine dehydratase 104 12 10 4.2.1.96 Cytoplasm; Nucleus 0 1 Hyperphenylalaninemia, BH4-deficient, D 0 1 5 2004-05-24 P78367 NKX32_HUMAN NKX3-2 Homeobox protein Nkx-3.2 333 34.8 4 Nucleus 0 1 Spondylo-megaepiphyseal-metaphyseal dysplasia 0 1 5 1998-07-15 P78382 S35A1_HUMAN SLC35A1 CMP-sialic acid transporter 337 36.8 6 Golgi apparatus membrane; Golgi apparatus 10 1 Congenital disorder of glycosylation 2F 0 1 5 1997-11-01 P78411 IRX5_HUMAN IRX5 Iroquois-class homeodomain protein IRX-5 483 50.4 16 Nucleus 0 1 Hamamy syndrome 0 1 5 1998-07-15 P78559 MAP1A_HUMAN MAP1A Microtubule-associated protein 1A 2803 305.5 15 Cytoplasm 0 0 0 1 5 1998-07-15 P80108 PHLD_HUMAN GPLD1 Phosphatidylinositol-glycan-specific phospholipase D 840 92.3 6 3.1.4.50 Secreted 0 0 0 1 5 1993-07-01 P80723 BASP1_HUMAN BASP1 Brain acid soluble protein 1 227 22.7 5 Cell membrane; Cell projection 0 0 0 1 5 1997-11-01 P86479 PR20C_HUMAN PRR20C Proline-rich protein 20C 221 23.3 13 0 0 0 1 5 2010-04-20 P86480 PR20D_HUMAN PRR20D Proline-rich protein 20D 221 23.3 13 0 0 0 1 5 2010-04-20 Q00005 2ABB_HUMAN PPP2R2B Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform 443 51.7 5 Cytoplasm; Membrane 0 1 Spinocerebellar ataxia 12 0 1 5 1993-04-01 Q01459 DIAC_HUMAN CTBS Di-N-acetylchitobiase 385 43.8 1 3.2.1.- Lysosome 0 0 0 1 5 1993-07-01 Q01629 IFM2_HUMAN IFITM2 Interferon-induced transmembrane protein 2 132 14.6 11 Cell membrane; Lysosome membrane; Late endosome membrane 1 0 0 1 5 1993-07-01 Q02086 SP2_HUMAN SP2 Transcription factor Sp2 613 64.9 17 Nucleus 0 0 0 1 5 1995-02-01 Q02221 CX6A2_HUMAN COX6A2 Cytochrome c oxidase subunit 6A2, mitochondrial 97 10.8 16 Mitochondrion inner membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 18 0 1 5 1993-07-01 Q02318 CP27A_HUMAN CYP27A1 Sterol 26-hydroxylase, mitochondrial 531 60.2 2 1.14.15.15 Mitochondrion inner membrane 0 1 Cerebrotendinous xanthomatosis 0 1 5 1993-07-01 Q03060 CREM_HUMAN CREM cAMP-responsive element modulator 345 37 10 Nucleus 0 0 0 1 5 1994-06-01 Q03923 ZNF85_HUMAN ZNF85 Zinc finger protein 85 595 68.7 19 Nucleus 0 0 0 1 5 1994-06-01 Q04118 PRB3_HUMAN PRB3 Basic salivary proline-rich protein 3 351 35.1 12 Secreted 0 0 0 1 5 2004-09-13 Q04726 TLE3_HUMAN TLE3 Transducin-like enhancer protein 3 772 83.4 15 Nucleus; Chromosome 0 0 0 1 5 1994-02-01 Q04743 EMX2_HUMAN EMX2 Homeobox protein EMX2 252 28.3 10 Nucleus; Cell projection 0 1 Schizencephaly 0 1 5 1995-02-01 Q05519 SRS11_HUMAN SRSF11 Serine/arginine-rich splicing factor 11 484 53.5 1 Nucleus 0 0 0 1 5 2000-05-30 Q06413 MEF2C_HUMAN MEF2C Myocyte-specific enhancer factor 2C 473 51.2 5 Nucleus; Cytoplasm 0 1 Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 1 5 1997-11-01 Q06432 CCG1_HUMAN CACNG1 Voltage-dependent calcium channel gamma-1 subunit 222 25 17 Cell membrane 4 0 0 1 5 1995-11-01 Q06546 GABPA_HUMAN GABPA GA-binding protein alpha chain 454 51.3 21 Nucleus 0 0 0 1 5 1995-02-01 Q06889 EGR3_HUMAN EGR3 Early growth response protein 3 387 42.6 8 Nucleus 0 0 0 1 5 1995-02-01 Q07002 CDK18_HUMAN CDK18 Cyclin-dependent kinase 18 474 54.4 1 2.7.11.22 0 0 0 1 5 1994-06-01 Q07444 NKG2E_HUMAN KLRC3 NKG2-E type II integral membrane protein 240 27.1 12 Membrane 1 0 0 1 5 1997-11-01 Q07627 KRA11_HUMAN KRTAP1-1 Keratin-associated protein 1-1 177 18.2 17 0 0 0 1 5 2006-02-21 Q08629 TICN1_HUMAN SPOCK1 Testican-1 439 49.1 5 Secreted 0 0 0 1 5 2002-10-19 Q08828 ADCY1_HUMAN ADCY1 Adenylate cyclase type 1 1119 123.4 7 4.6.1.1 Membrane; Cell membrane; Cytoplasm; Membrane raft 12 1 Deafness, autosomal recessive, 44 0 1 5 1994-10-01 Q08AD1 CAMP2_HUMAN CAMSAP2 Calmodulin-regulated spectrin-associated protein 2 1489 168.1 1 Cytoplasm; Golgi apparatus 0 0 0 1 5 2008-02-26 Q08ET2 SIG14_HUMAN SIGLEC14 Sialic acid-binding Ig-like lectin 14 396 44 19 Cell membrane 1 0 0 1 5 2007-11-13 Q09327 MGAT3_HUMAN MGAT3 Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase 533 61.3 22 2.4.1.144 Golgi apparatus 1 0 0 1 5 1995-11-01 Q0GE19 NTCP7_HUMAN SLC10A7 Sodium/bile acid cotransporter 7 340 37.4 4 Cell membrane; Endoplasmic reticulum membrane; Golgi apparatus membrane 10 1 Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 0 1 5 2007-02-20 Q0P5N6 ARL16_HUMAN ARL16 ADP-ribosylation factor-like protein 16 173 18.6 17 Cytoplasm; Mitochondrion; Photoreceptor inner segment 0 0 0 1 5 2006-12-12 Q0VAM2 RGF1B_HUMAN RASGEF1B Ras-GEF domain-containing family member 1B 473 55.4 4 Early endosome; Late endosome; Midbody 0 0 0 1 5 2007-08-21 Q0ZGT2 NEXN_HUMAN NEXN Nexilin 675 80.7 1 Cytoplasm; Cell junction 0 3 Cardiomyopathy, dilated, 1CC; Cardiomyopathy, dilated, 2M; Cardiomyopathy, familial hypertrophic, 20 0 1 5 2007-09-11 Q10586 DBP_HUMAN DBP D site-binding protein 325 34.3 19 Nucleus 0 0 0 1 5 1996-10-01 Q10713 MPPA_HUMAN PMPCA Mitochondrial-processing peptidase subunit alpha 525 58.3 9 Mitochondrion matrix; Mitochondrion inner membrane 0 1 Spinocerebellar ataxia, autosomal recessive, 2 0 1 5 1996-10-01 Q10981 FUT2_HUMAN FUT2 Galactoside alpha-(1,2)-fucosyltransferase 2 343 39 19 Golgi apparatus 1 0 0 1 5 1996-10-01 Q12798 CETN1_HUMAN CETN1 Centrin-1 172 19.6 18 Cytoplasm; Cell projection 0 0 0 1 5 1997-11-01 Q12805 FBLN3_HUMAN EFEMP1 EGF-containing fibulin-like extracellular matrix protein 1 493 54.6 2 Secreted 0 3 Doyne honeycomb retinal dystrophy; Cutis laxa, autosomal recessive, 1D; Glaucoma 1, open angle, H 0 1 5 2000-12-01 Q12837 PO4F2_HUMAN POU4F2 POU domain, class 4, transcription factor 2 409 43.1 4 Nucleus; Nucleus speckle; Cytoplasm 0 0 0 1 5 1997-11-01 Q12841 FSTL1_HUMAN FSTL1 Follistatin-related protein 1 308 35 3 Secreted 0 0 0 1 5 1997-11-01 Q12882 DPYD_HUMAN DPYD Dihydropyrimidine dehydrogenase [NADP(+)] 1025 111.4 1 1.3.1.2 Cytoplasm 0 1 Dihydropyrimidine dehydrogenase deficiency 0 1 5 1997-11-01 Q12887 COX10_HUMAN COX10 Protoheme IX farnesyltransferase, mitochondrial 443 48.9 17 2.5.1.141 Mitochondrion membrane 7 1 Mitochondrial complex IV deficiency, nuclear type 3 0 1 5 1999-07-15 Q12907 LMAN2_HUMAN LMAN2 Vesicular integral-membrane protein VIP36 356 40.2 5 Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2002-05-27 Q12946 FOXF1_HUMAN FOXF1 Forkhead box protein F1 379 40.1 16 Nucleus 0 1 Alveolar capillary dysplasia with misalignment of pulmonary veins 0 1 5 1997-11-01 Q12948 FOXC1_HUMAN FOXC1 Forkhead box protein C1 553 56.8 6 Nucleus 0 2 Axenfeld-Rieger syndrome 3; Anterior segment dysgenesis 3 0 1 5 1997-11-01 Q13003 GRIK3_HUMAN GRIK3 Glutamate receptor ionotropic, kainate 3 919 104 1 Cell membrane; Postsynaptic cell membrane 3 0 0 1 5 1997-11-01 Q13015 AF1Q_HUMAN MLLT11 Protein AF1q 90 10.1 1 Nucleus; Cytoplasm 0 0 0 1 5 2000-05-30 Q13045 FLII_HUMAN FLII Protein flightless-1 homolog 1269 144.8 17 Nucleus; Cytoplasm; Cell projection; Cell junction 0 1 Cardiomyopathy, dilated, 2J 0 1 5 2001-09-26 Q13064 MKRN3_HUMAN MKRN3 E3 ubiquitin-protein ligase makorin-3 507 55.6 15 2.3.2.27 Nucleus 0 1 Precocious puberty, central 2 0 1 5 2001-11-16 Q13145 BAMBI_HUMAN BAMBI BMP and activin membrane-bound inhibitor homolog 260 29.1 10 Membrane 1 0 0 1 5 1997-11-01 Q13156 RFA4_HUMAN RPA4 Replication protein A 30 kDa subunit 261 28.9 X Nucleus 0 0 0 1 5 1997-11-01 Q13326 SGCG_HUMAN SGCG Gamma-sarcoglycan 291 32.4 13 Cell membrane; Cytoplasm 1 1 Muscular dystrophy, limb-girdle, autosomal recessive 5 0 1 5 2001-04-27 Q13487 SNPC2_HUMAN SNAPC2 snRNA-activating protein complex subunit 2 334 35.6 19 Nucleus 0 0 0 1 5 2000-05-30 Q13488 VPP3_HUMAN TCIRG1 V-type proton ATPase 116 kDa subunit a 3 830 93 11 Membrane 8 1 Osteopetrosis, autosomal recessive 1 0 1 5 2000-12-01 Q13516 OLIG2_HUMAN OLIG2 Oligodendrocyte transcription factor 2 323 32.4 21 Nucleus; Cytoplasm 0 0 0 1 5 2000-05-30 Q13522 PPR1A_HUMAN PPP1R1A Protein phosphatase 1 regulatory subunit 1A 171 18.9 12 0 0 0 1 5 1997-11-01 Q13571 LAPM5_HUMAN LAPTM5 Lysosomal-associated transmembrane protein 5 262 29.9 1 Lysosome membrane 5 0 0 1 5 1998-07-15 Q13588 GRAP_HUMAN GRAP GRB2-related adapter protein 217 25.3 17 Membrane; Synapse 0 1 Deafness, autosomal recessive, 114 0 1 5 1998-12-15 Q13634 CAD18_HUMAN CDH18 Cadherin-18 790 88.1 5 Cell membrane 1 0 0 1 5 1998-07-15 Q13702 RAPSN_HUMAN RAPSN 43 kDa receptor-associated protein of the synapse 412 46.3 11 Cell membrane; Postsynaptic cell membrane; Cytoplasm 0 2 Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Fetal akinesia deformation sequence 2 0 1 5 1997-11-01 Q13901 C1D_HUMAN C1D Nuclear nucleic acid-binding protein C1D 141 16 2 Nucleus; Cytoplasm 0 0 0 1 5 2008-02-05 Q13939 CALI_HUMAN CCIN Calicin 588 66.6 9 Cytoplasm 0 1 Spermatogenic failure 91 0 1 5 1997-11-01 Q14106 TOB2_HUMAN TOB2 Protein Tob2 344 36.6 22 Cytoplasm 0 0 0 1 5 1997-11-01 Q14151 SAFB2_HUMAN SAFB2 Scaffold attachment factor B2 953 107.5 19 Cytoplasm; Nucleus 0 0 0 1 5 2003-11-14 Q14161 GIT2_HUMAN GIT2 ARF GTPase-activating protein GIT2 759 84.5 12 0 0 0 1 5 1997-11-01 Q14164 IKKE_HUMAN IKBKE Inhibitor of nuclear factor kappa-B kinase subunit epsilon 716 80.5 1 2.7.11.1, 2.7.11.10 Cytoplasm; Nucleus 0 0 0 1 5 2001-06-20 Q14166 TTL12_HUMAN TTLL12 Tubulin--tyrosine ligase-like protein 12 644 74.4 22 Cytoplasm; Midbody; Nucleus 0 0 0 1 5 2000-05-30 Q14210 LY6D_HUMAN LY6D Lymphocyte antigen 6D 128 13.3 8 Cell membrane 0 0 0 1 5 1997-11-01 Q14494 NF2L1_HUMAN NFE2L1 Endoplasmic reticulum membrane sensor NFE2L1 772 84.7 17 Endoplasmic reticulum membrane 1 0 0 1 5 1998-07-15 Q14517 FAT1_HUMAN FAT1 Protocadherin Fat 1 4588 506.3 4 Cell membrane 1 0 0 1 5 2000-12-01 Q14525 KT33B_HUMAN KRT33B Keratin, type I cuticular Ha3-II 404 46.2 17 0 0 0 1 5 1998-07-15 Q14542 S29A2_HUMAN SLC29A2 Equilibrative nucleoside transporter 2 456 50.1 11 Apical cell membrane; Basolateral cell membrane; Cell membrane 11 0 0 1 5 1997-11-01 Q14568 HS902_HUMAN HSP90AA2P Heat shock protein HSP 90-alpha A2 343 39.4 Cytoplasm 0 0 0 1 5 2008-03-18 Q14592 ZN460_HUMAN ZNF460 Zinc finger protein 460 562 63.7 19 Nucleus 0 0 0 1 5 2000-12-01 Q14651 PLSI_HUMAN PLS1 Plastin-1 629 70.3 3 Cytoplasm; Cell projection 0 1 Deafness, autosomal dominant, 76 0 1 5 1997-11-01 Q14687 GSE1_HUMAN GSE1 Genetic suppressor element 1 1217 136.2 16 0 0 0 1 5 1997-11-01 Q14699 RFTN1_HUMAN RFTN1 Raftlin 578 63.1 3 Cell membrane; Cytoplasm; Membrane raft; Endosome; Early endosome 0 0 0 1 5 1997-11-01 Q14767 LTBP2_HUMAN LTBP2 Latent-transforming growth factor beta-binding protein 2 1821 195.1 14 Secreted 0 3 Glaucoma 3, primary congenital, D; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma; Weill-Marchesani syndrome 3 0 1 5 2004-01-16 Q14953 KI2S5_HUMAN KIR2DS5 Killer cell immunoglobulin-like receptor 2DS5 304 33.7 Cell membrane 1 0 0 1 5 1997-11-01 Q14964 RB39A_HUMAN RAB39A Ras-related protein Rab-39A 217 25 11 3.6.5.2 Cell membrane; Cytoplasmic vesicle; Lysosome membrane; Autolysosome membrane 0 0 0 1 5 2002-01-31 Q14993 COJA1_HUMAN COL19A1 Collagen alpha-1(XIX) chain 1142 115.2 6 Secreted 0 0 0 1 5 2001-11-16 Q15031 SYLM_HUMAN LARS2 Leucine--tRNA ligase, mitochondrial 903 102 3 6.1.1.4 Mitochondrion matrix 0 2 Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia 0 1 5 1997-11-01 Q15040 JOS1_HUMAN JOSD1 Josephin-1 202 23.2 22 3.4.19.12 Cell membrane; Cytoplasm 0 0 0 1 5 1998-07-15 Q15041 AR6P1_HUMAN ARL6IP1 ADP-ribosylation factor-like protein 6-interacting protein 1 203 23.4 16 Endomembrane system; Endoplasmic reticulum membrane; Endoplasmic reticulum 3 1 Spastic paraplegia 61, autosomal recessive 0 1 5 1998-07-15 Q15043 S39AE_HUMAN SLC39A14 Metal cation symporter ZIP14 492 54.2 8 Cell membrane; Apical cell membrane; Basolateral cell membrane; Early endosome membrane; Late endosome membrane; Lysosome membrane 6 2 Hypermanganesemia with dystonia 2; Hyperostosis cranialis interna 0 1 5 2007-12-04 Q15049 MLC1_HUMAN MLC1 Membrane protein MLC1 377 41.1 22 Membrane; Cell membrane; Cytoplasm; Endoplasmic reticulum 8 1 Megalencephalic leukoencephalopathy with subcortical cysts 1 0 1 5 1998-07-15 Q15058 KIF14_HUMAN KIF14 Kinesin-like protein KIF14 1648 186.5 1 Nucleus; Cytoplasm; Midbody 0 2 Meckel syndrome 12; Microcephaly 20, primary, autosomal recessive 0 1 5 2002-09-19 Q15072 OZF_HUMAN ZNF146 Zinc finger protein OZF 292 33.3 19 Nucleus 0 0 0 1 5 1997-11-01 Q15131 CDK10_HUMAN CDK10 Cyclin-dependent kinase 10 360 41 16 2.7.11.22 Cytoplasm 0 1 Al Kaissi syndrome 0 1 5 2000-05-30 Q15293 RCN1_HUMAN RCN1 Reticulocalbin-1 331 38.9 11 Endoplasmic reticulum lumen 0 0 0 1 5 1997-11-01 Q15327 ANKR1_HUMAN ANKRD1 Ankyrin repeat domain-containing protein 1 319 36.3 10 Nucleus 0 0 0 1 5 2006-06-27 Q15345 LRC41_HUMAN LRRC41 Leucine-rich repeat-containing protein 41 812 88.7 1 0 0 0 1 5 2004-01-16 Q15424 SAFB1_HUMAN SAFB Scaffold attachment factor B1 915 102.6 19 Nucleus 0 0 0 1 5 2003-11-14 Q15526 SURF1_HUMAN SURF1 Surfeit locus protein 1 300 33.3 9 Mitochondrion inner membrane 2 2 Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease, demyelinating, type 4K 0 1 5 1997-11-01 Q15546 PAQRB_HUMAN MMD Monocyte to macrophage differentiation factor 238 27.7 17 Late endosome membrane; Lysosome membrane 7 0 0 1 5 1999-07-15 Q15617 OR8G1_HUMAN OR8G1 Olfactory receptor 8G1 311 34.9 11 Cell membrane 7 0 0 1 5 2003-10-10 Q15669 RHOH_HUMAN RHOH Rho-related GTP-binding protein RhoH 191 21.3 4 3.6.5.2 Cytoplasm; Cell membrane 0 1 Immunodeficiency 129 0 1 5 1997-11-01 Q15742 NAB2_HUMAN NAB2 NGFI-A-binding protein 2 525 56.6 12 Nucleus 0 0 0 1 5 2000-12-01 Q15776 ZKSC8_HUMAN ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 578 65.8 6 Nucleus 0 0 0 1 5 2000-12-01 Q15777 MPPD2_HUMAN MPPED2 Metallophosphoesterase MPPED2 294 33.4 11 3.1.-.- 0 0 0 1 5 1998-07-15 Q15834 CC85B_HUMAN CCDC85B Coiled-coil domain-containing protein 85B 202 22.1 11 Nucleus; Cytoplasm; Cell junction 0 0 0 1 5 2001-08-29 Q16099 GRIK4_HUMAN GRIK4 Glutamate receptor ionotropic, kainate 4 956 107.2 11 Cell membrane; Postsynaptic cell membrane; Presynaptic cell membrane 3 0 0 1 5 1998-07-15 Q16401 PSMD5_HUMAN PSMD5 26S proteasome non-ATPase regulatory subunit 5 504 56.2 9 0 0 0 1 5 1998-07-15 Q16520 BATF_HUMAN BATF Basic leucine zipper transcriptional factor ATF-like 125 14.1 14 Nucleus; Cytoplasm 0 0 0 1 5 2003-06-20 Q16587 ZNF74_HUMAN ZNF74 Zinc finger protein 74 644 72.2 22 Nucleus 0 0 0 1 5 1997-11-01 Q16600 ZN239_HUMAN ZNF239 Zinc finger protein 239 458 51.6 10 Nucleus 0 0 0 1 5 1997-11-01 Q16619 CTF1_HUMAN CTF1 Cardiotrophin-1 201 21.2 16 Secreted 0 0 0 1 5 1997-11-01 Q16706 MA2A1_HUMAN MAN2A1 Alpha-mannosidase 2 1144 131.1 5 3.2.1.114 Golgi apparatus membrane 1 0 0 1 5 1998-07-15 Q16799 RTN1_HUMAN RTN1 Reticulon-1 776 83.6 14 Endoplasmic reticulum membrane; Golgi apparatus membrane 2 0 0 1 5 2000-12-01 Q17RD7 SYT16_HUMAN SYT16 Synaptotagmin-16 645 72.3 14 0 0 0 1 5 2006-10-31 Q2KHM9 MOONR_HUMAN KIAA0753 Protein moonraker 967 109.4 17 Cytoplasm 0 3 Orofaciodigital syndrome 15; Joubert syndrome 38; Short-rib thoracic dysplasia 21 without polydactyly 0 1 5 2007-03-06 Q2M2I5 K1C24_HUMAN KRT24 Keratin, type I cytoskeletal 24 525 55.1 17 0 0 0 1 5 2008-01-15 Q2M2Z5 KIZ_HUMAN KIZ Centrosomal protein kizuna 673 75.1 20 Cytoplasm 0 1 Retinitis pigmentosa 69 0 1 5 2007-09-11 Q2M3M2 SC5A9_HUMAN SLC5A9 Sodium/glucose cotransporter 4 681 74.1 1 Cell membrane 14 0 0 1 5 2008-05-20 Q2M3R5 S35G1_HUMAN SLC35G1 Solute carrier family 35 member G1 365 39.8 10 Basolateral cell membrane; Cell membrane; Endoplasmic reticulum membrane 10 0 0 1 5 2006-06-27 Q2NKQ1 SGSM1_HUMAN SGSM1 Small G protein signaling modulator 1 1148 129.7 22 Golgi apparatus; Cytoplasmic vesicle membrane; Cytoplasm 0 0 0 1 5 2007-04-17 Q2V2M9 FHOD3_HUMAN FHOD3 FH1/FH2 domain-containing protein 3 1422 158.6 18 Cytoplasm 0 1 Cardiomyopathy, familial hypertrophic, 28 0 1 5 2007-04-17 Q2VPA4 CR1L_HUMAN CR1L Complement component receptor 1-like protein 569 62.7 1 Cytoplasm; Membrane; Secreted 0 0 0 1 5 2008-02-05 Q2WGJ9 FR1L6_HUMAN FER1L6 Fer-1-like protein 6 1857 209.3 8 Cell membrane; Cytoplasm; Golgi apparatus; Recycling endosome 1 0 0 1 5 2008-03-18 Q32M45 ANO4_HUMAN ANO4 Anoctamin-4 955 111.5 12 Cell membrane 8 0 0 1 5 2007-05-29 Q330K2 NDUF6_HUMAN NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 333 38.2 8 Mitochondrion inner membrane 0 2 Mitochondrial complex I deficiency, nuclear type 17; Fanconi renotubular syndrome 5 0 1 5 2007-06-26 Q33E94 RFX4_HUMAN RFX4 Transcription factor RFX4 735 83.4 12 Nucleus 0 0 0 1 5 2008-01-15 Q3LHN2 KR192_HUMAN KRTAP19-2 Keratin-associated protein 19-2 52 5.7 21 0 0 0 1 5 2006-02-21 Q494U1 PKHN1_HUMAN PLEKHN1 Pleckstrin homology domain-containing family N member 1 611 66.4 1 Cell membrane; Mitochondrion; Mitochondrion membrane 0 0 0 1 5 2007-11-13 Q495T6 MMEL1_HUMAN MMEL1 Membrane metallo-endopeptidase-like 1 779 89.4 1 3.4.24.11 Membrane; Secreted 1 0 0 1 5 2006-09-05 Q49AJ0 F135B_HUMAN FAM135B Protein FAM135B 1406 155.8 8 0 0 0 1 5 2008-01-15 Q4AC94 C2CD3_HUMAN C2CD3 C2 domain-containing protein 3 2353 260.4 11 Cytoplasm 0 1 Orofaciodigital syndrome 14 0 1 5 2007-11-13 Q4G0U5 PCDP1_HUMAN CFAP221 Cilia- and flagella-associated protein 221 840 96.9 2 Cytoplasm 0 1 Ciliary dyskinesia, primary, 55 0 1 5 2008-02-26 Q4V328 GRAP1_HUMAN GRIPAP1 GRIP1-associated protein 1 841 96 X Early endosome membrane; Recycling endosome membrane; Cell projection; Synapse 0 0 0 1 5 2005-09-27 Q4VC12 MSS51_HUMAN MSS51 Putative protein MSS51 homolog, mitochondrial 460 51.3 10 0 0 0 1 5 2007-05-29 Q4VXU2 PAP1L_HUMAN PABPC1L Polyadenylate-binding protein 1-like 619 68.9 20 Cytoplasm 0 1 Oocyte/zygote/embryo maturation arrest 22 0 1 5 2007-02-20 Q4ZG55 GREB1_HUMAN GREB1 Protein GREB1 1949 216.5 2 Membrane 1 0 0 1 5 2008-02-26 Q504Y2 PKDCC_HUMAN PKDCC Extracellular tyrosine-protein kinase PKDCC 493 54.1 2 2.7.10.2 Secreted; Golgi apparatus 0 1 Rhizomelic limb shortening with dysmorphic features 0 1 5 2006-11-28 Q52LG2 KR132_HUMAN KRTAP13-2 Keratin-associated protein 13-2 175 18.7 21 0 0 0 1 5 2005-11-22 Q53EU6 GPAT3_HUMAN GPAT3 Glycerol-3-phosphate acyltransferase 3 434 48.7 4 2.3.1.15 Endoplasmic reticulum membrane 3 0 0 1 5 2007-06-26 Q53HV7 SMUG1_HUMAN SMUG1 Single-strand selective monofunctional uracil DNA glycosylase 270 29.9 12 3.2.2.- Nucleus 0 0 0 1 5 2005-08-16 Q53R12 T4S20_HUMAN TM4SF20 Transmembrane 4 L6 family member 20 229 25.1 2 Membrane; Endoplasmic reticulum membrane 4 1 Specific language impairment 5 0 1 5 2006-10-03 Q53R41 FAKD1_HUMAN FASTKD1 FAST kinase domain-containing protein 1, mitochondrial 847 97.4 2 Mitochondrion 0 0 0 1 5 2007-04-17 Q53TQ3 IN80D_HUMAN INO80D INO80 complex subunit D 1027 113.2 2 Nucleus 0 0 0 1 5 2008-02-26 Q569K4 Z385B_HUMAN ZNF385B Zinc finger protein 385B 471 50.4 2 Nucleus 0 0 0 1 5 2005-10-25 Q58FF7 H90B3_HUMAN HSP90AB3P Putative heat shock protein HSP 90-beta-3 597 68.3 Cytoplasm 0 0 0 5 5 2008-05-20 Q5C9Z4 NOM1_HUMAN NOM1 Nucleolar MIF4G domain-containing protein 1 860 96.3 7 Nucleus 0 0 0 1 5 2007-05-15 Q5CZC0 FSIP2_HUMAN FSIP2 Fibrous sheath-interacting protein 2 6907 780.6 2 0 1 Spermatogenic failure 34 0 1 5 2008-04-29 Q5D0E6 DALD3_HUMAN DALRD3 DALR anticodon-binding domain-containing protein 3 543 59.4 3 0 1 Developmental and epileptic encephalopathy 86 0 1 5 2008-01-15 Q5FVE4 ACBG2_HUMAN ACSBG2 Long-chain-fatty-acid--CoA ligase ACSBG2 666 74.4 19 6.2.1.3 Cytoplasm; Membrane 0 0 0 1 5 2008-01-15 Q5GLZ8 HERC4_HUMAN HERC4 Probable E3 ubiquitin-protein ligase HERC4 1057 118.6 10 2.3.2.26 Cytoplasm 0 0 0 1 5 2007-02-20 Q5H8C1 FREM1_HUMAN FREM1 FRAS1-related extracellular matrix protein 1 2179 244.2 9 Secreted 0 3 Bifid nose, with or without anorectal and renal anomalies; Manitoba oculotrichoanal syndrome; Trigonocephaly 2 0 1 5 2005-08-16 Q5H9I0 TFDP3_HUMAN TFDP3 Transcription factor Dp family member 3 405 45 X Nucleus; Cytoplasm 0 0 0 1 5 2007-10-02 Q5HYI8 RABL3_HUMAN RABL3 Rab-like protein 3 236 26.4 3 3.6.5.2 Cytoplasm; Golgi apparatus 0 1 Pancreatic cancer 5 0 1 5 2007-12-04 Q5HYK3 COQ5_HUMAN COQ5 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial 327 37.1 12 2.1.1.201 Mitochondrion inner membrane 0 1 Coenzyme Q10 deficiency, primary, 9 0 1 5 2006-03-21 Q5JPH6 SYEM_HUMAN EARS2 Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial 523 58.7 16 6.1.1.24 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 12 0 1 5 2006-10-31 Q5JPI9 EFMT2_HUMAN EEF1AKMT2 EEF1A lysine methyltransferase 2 236 25.9 10 2.1.1.- Cytoplasm; Nucleus 0 0 0 1 5 2008-03-18 Q5JQC9 AKAP4_HUMAN AKAP4 A-kinase anchor protein 4 854 94.5 X Cell projection 0 0 0 1 5 2006-09-05 Q5JR59 MTUS2_HUMAN MTUS2 Microtubule-associated tumor suppressor candidate 2 1369 150.2 13 Cytoplasm 0 0 0 1 5 2007-03-06 Q5JSZ5 PRC2B_HUMAN PRRC2B Protein PRRC2B 2229 243 9 0 0 0 1 5 2007-02-06 Q5JT25 RAB41_HUMAN RAB41 Ras-related protein Rab-41 222 25 X 3.6.5.2 Cytoplasm 0 0 0 1 5 2006-06-27 Q5JVS0 HABP4_HUMAN HABP4 Intracellular hyaluronan-binding protein 4 413 45.8 9 Nucleus; Cytoplasm; Nucleus speckle 0 0 0 1 5 2006-10-31 Q5K4E3 POLS2_HUMAN PRSS36 Polyserase-2 855 92 16 3.4.21.- Secreted 0 0 0 1 5 2005-03-15 Q5MIZ7 P4R3B_HUMAN PPP4R3B Serine/threonine-protein phosphatase 4 regulatory subunit 3B 849 97.5 2 Cytoplasm; Nucleus 0 0 0 1 5 2006-10-31 Q5MJ10 SPXN2_HUMAN SPANXN2 Sperm protein associated with the nucleus on the X chromosome N2 180 19.9 X 0 0 0 1 5 2007-05-01 Q5MNZ9 WIPI1_HUMAN WIPI1 WD repeat domain phosphoinositide-interacting protein 1 446 48.7 17 Golgi apparatus; Endosome; Cytoplasmic vesicle; Preautophagosomal structure membrane; Cytoplasm 0 0 0 1 5 2006-01-10 Q5MY95 ENTP8_HUMAN ENTPD8 Ectonucleoside triphosphate diphosphohydrolase 8 495 53.9 9 3.6.1.5 Cell membrane 2 0 0 1 5 2007-10-02 Q5NDL2 EOGT_HUMAN EOGT EGF domain-specific O-linked N-acetylglucosamine transferase 527 62 3 2.4.1.255 Endoplasmic reticulum lumen 0 1 Adams-Oliver syndrome 4 0 1 5 2007-09-11 Q5QJU3 ACER2_HUMAN ACER2 Alkaline ceramidase 2 275 31.3 9 3.5.1.-, 3.5.1.23 Golgi apparatus membrane 7 0 0 1 5 2006-07-25 Q5T0N1 CFA70_HUMAN CFAP70 Cilia- and flagella-associated protein 70 1121 125.7 10 Cell projection; Cytoplasm 0 1 Spermatogenic failure 41 0 1 5 2007-06-26 Q5T197 DCST1_HUMAN DCST1 E3 ubiquitin-protein ligase DCST1 706 80.7 1 2.3.2.27 Cell membrane; Cytoplasmic vesicle 6 0 0 1 5 2007-03-06 Q5T1M5 FKB15_HUMAN FKBP15 FK506-binding protein 15 1219 133.6 9 Cytoplasm; Cell projection; Early endosome 0 0 0 1 5 2007-09-11 Q5T5C0 STXB5_HUMAN STXBP5 Syntaxin-binding protein 5 1151 127.6 6 Cytoplasm; Cell membrane; Cytoplasmic vesicle membrane; Cytoplasmic vesicle; Synapse 0 0 0 1 5 2005-11-22 Q5T686 AVPI1_HUMAN AVPI1 Arginine vasopressin-induced protein 1 147 16.8 10 0 0 0 1 5 2007-04-03 Q5T700 LRAD1_HUMAN LDLRAD1 Low-density lipoprotein receptor class A domain-containing protein 1 205 21.8 1 Membrane 1 0 0 1 5 2007-09-11 Q5T751 LCE1C_HUMAN LCE1C Late cornified envelope protein 1C 118 11.5 1 0 0 0 1 5 2006-05-16 Q5T754 LCE1F_HUMAN LCE1F Late cornified envelope protein 1F 118 11.7 1 0 0 0 1 5 2006-05-16 Q5T7P8 SYT6_HUMAN SYT6 Synaptotagmin-6 510 57.3 1 Cytoplasmic vesicle 1 0 0 1 5 2005-06-07 Q5T7V8 GORAB_HUMAN GORAB RAB6-interacting golgin 369 42.3 1 Cytoplasm; Golgi apparatus 0 1 Geroderma osteodysplasticum 0 1 5 2006-10-17 Q5T9A4 ATD3B_HUMAN ATAD3B ATPase family AAA domain-containing protein 3B 648 72.6 1 Mitochondrion inner membrane 0 0 0 1 5 2005-09-13 Q5TA78 LCE4A_HUMAN LCE4A Late cornified envelope protein 4A 99 10 1 0 0 0 1 5 2006-05-16 Q5TA81 LCE2C_HUMAN LCE2C Late cornified envelope protein 2C 110 11.2 1 0 0 0 1 5 2006-05-16 Q5TAP6 UT14C_HUMAN UTP14C U3 small nucleolar RNA-associated protein 14 homolog C 766 87.2 13 Nucleus 0 0 0 1 5 2005-07-05 Q5TCH4 CP4AM_HUMAN CYP4A22 Cytochrome P450 4A22 519 59.2 1 Endoplasmic reticulum membrane; Microsome membrane 0 0 0 1 5 2008-07-01 Q5TEU4 NDUF5_HUMAN NDUFAF5 Arginine-hydroxylase NDUFAF5, mitochondrial 345 38.9 20 1.-.-.- Mitochondrion inner membrane 0 1 Mitochondrial complex I deficiency, nuclear type 16 0 1 5 2007-10-23 Q5TGY3 AHDC1_HUMAN AHDC1 Transcription factor Gibbin 1603 168.3 1 Nucleus; Chromosome 0 1 Xia-Gibbs syndrome 0 1 5 2008-01-15 Q5TH69 BIG3_HUMAN ARFGEF3 Brefeldin A-inhibited guanine nucleotide-exchange protein 3 2177 240.7 6 Cytoplasm; Cytoplasmic vesicle 1 0 0 1 5 2007-05-15 Q5TID7 CC181_HUMAN CCDC181 Coiled-coil domain-containing protein 181 509 60.1 1 Cytoplasm; Cell projection 0 0 0 1 5 2007-03-06 Q5VU57 CBPC6_HUMAN AGBL4 Cytosolic carboxypeptidase 6 503 58.2 1 3.4.17.24 Cytoplasm; Golgi apparatus 0 0 0 1 5 2007-04-17 Q5VU97 CAHD1_HUMAN CACHD1 VWFA and cache domain-containing protein 1 1274 142.3 1 Cell membrane 1 1 Davis-Wells syndrome 0 1 5 2007-09-11 Q5VUA4 ZN318_HUMAN ZNF318 Zinc finger protein 318 2279 251.1 6 Nucleus 0 0 0 1 5 2005-12-20 Q5VUB5 F1711_HUMAN FAM171A1 Protein FAM171A1 890 97.9 10 Cell membrane 1 0 0 1 5 2007-02-06 Q5VW36 FOCAD_HUMAN FOCAD Focadhesin 1801 200.1 9 Cell junction; Cytoplasm 0 1 Liver disease, severe congenital 0 1 5 2008-01-15 Q5VW38 GP107_HUMAN GPR107 Protein GPR107 600 67 9 Cell membrane; Golgi apparatus 7 0 0 1 5 2005-07-05 Q5VWP3 MLIP_HUMAN MLIP Muscular LMNA-interacting protein 993 105.9 6 Nucleus; Nucleus envelope; Cytoplasm; Cell membrane 0 1 Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 0 1 5 2005-08-30 Q5VWQ0 RSBN1_HUMAN RSBN1 Lysine-specific demethylase 9 802 90.1 1 1.14.11.- Nucleus; Cytoplasm 0 0 0 1 5 2007-09-11 Q5W5X9 TTC23_HUMAN TTC23 Tetratricopeptide repeat protein 23 447 50 15 Cell projection 0 0 0 1 5 2007-05-29 Q64LD2 WDR25_HUMAN WDR25 WD repeat-containing protein 25 544 60.2 14 0 0 0 1 5 2006-10-31 Q66K89 E4F1_HUMAN E4F1 Transcription factor E4F1 784 83.5 16 2.3.2.27 Nucleus; Cytoplasm 0 0 0 1 5 2008-03-18 Q66PJ3 AR6P4_HUMAN ARL6IP4 ADP-ribosylation factor-like protein 6-interacting protein 4 237 26.4 12 Nucleus; Nucleus speckle 0 0 0 1 5 2007-12-04 Q674X7 KAZRN_HUMAN KAZN Kazrin 775 86.4 1 Cytoplasm 0 0 0 1 5 2008-02-26 Q67FW5 QTGAL_HUMAN QTGAL Queuosine-tRNA galactosyltransferase 346 39.4 17 2.4.1.- Cytoplasm 0 0 0 1 5 2007-05-29 Q68CJ9 CR3L3_HUMAN CREB3L3 Cyclic AMP-responsive element-binding protein 3-like protein 3 461 49.1 19 Endoplasmic reticulum membrane 1 1 Hypertriglyceridemia 2 0 1 5 2007-05-29 Q68CQ1 MROH7_HUMAN MROH7 Maestro heat-like repeat-containing protein family member 7 1323 145.6 1 Membrane 2 0 0 1 5 2007-05-15 Q68D86 C102B_HUMAN CCDC102B Coiled-coil domain-containing protein 102B 513 60.4 18 Cytoplasm 0 0 0 1 5 2005-07-19 Q68DQ2 CRBG3_HUMAN CRYBG3 Very large A-kinase anchor protein 2970 330.6 3 0 0 0 1 5 2008-03-18 Q69YI7 NAIF1_HUMAN NAIF1 Nuclear apoptosis-inducing factor 1 327 35.2 9 Nucleus 0 0 0 1 5 2005-07-05 Q69YQ0 CYTSA_HUMAN SPECC1L Cytospin-A 1117 124.5 22 Cytoplasm; Cell junction 0 2 Facial clefting, oblique, 1; Teebi hypertelorism syndrome 1 0 1 5 2006-04-04 Q6AWC2 WWC2_HUMAN WWC2 Protein WWC2 1192 133.9 4 Cytoplasm 0 0 0 1 5 2007-11-13 Q6BAA4 FCRLB_HUMAN FCRLB Fc receptor-like B 426 46.9 1 Cytoplasm; Endoplasmic reticulum 0 0 0 1 5 2008-05-20 Q6DT37 MRCKG_HUMAN CDC42BPG Serine/threonine-protein kinase MRCK gamma 1551 172.5 11 2.7.11.1 Cytoplasm 0 0 0 1 5 2005-11-08 Q6E213 AWAT2_HUMAN AWAT2 Acyl-CoA wax alcohol acyltransferase 2 333 38.1 X 2.3.1.75 Endoplasmic reticulum membrane 3 0 0 1 5 2006-09-05 Q6EMK4 VASN_HUMAN VASN Vasorin 673 71.7 16 Membrane; Secreted 1 0 0 1 5 2006-04-18 Q6GPH6 IPIL1_HUMAN ITPRIPL1 Inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 555 63.4 2 Cell membrane 1 0 0 1 5 2008-02-26 Q6ICG8 WBP2L_HUMAN WBP2NL Postacrosomal sheath WW domain-binding protein 309 31.9 22 0 0 0 1 5 2007-05-29 Q6IQ19 CCSAP_HUMAN CCSAP Centriole, cilia and spindle-associated protein 270 30.2 1 Cytoplasm; Cell projection 0 0 0 1 5 2007-04-17 Q6KCM7 SCMC2_HUMAN SLC25A25 Mitochondrial adenyl nucleotide antiporter SLC25A25 469 52.7 9 Mitochondrion inner membrane 6 0 0 1 5 2008-02-05 Q6L9W6 B4GN3_HUMAN B4GALNT3 Beta-1,4-N-acetylgalactosaminyltransferase 3 998 115 12 2.4.1.244 Golgi apparatus 1 0 0 1 5 2006-10-17 Q6N043 Z280D_HUMAN ZNF280D Zinc finger protein 280D 979 109.3 15 Nucleus 0 0 0 1 5 2006-03-21 Q6N069 NAA16_HUMAN NAA16 N-alpha-acetyltransferase 16, NatA auxiliary subunit 864 101.5 13 0 0 0 1 5 2005-01-04 Q6NTF9 RHBD2_HUMAN RHBDD2 Rhomboid domain-containing protein 2 364 39.2 7 Golgi apparatus 5 0 0 1 5 2006-10-31 Q6NUJ2 CK087_HUMAN C11orf87 Uncharacterized protein C11orf87 197 20.6 11 Membrane 1 0 0 1 5 2008-02-26 Q6NUS6 TECT3_HUMAN TCTN3 Tectonic-3 607 66.2 10 Membrane 1 2 Orofaciodigital syndrome 4; Joubert syndrome 18 0 1 5 2006-04-04 Q6NUT2 D19L2_HUMAN DPY19L2 Probable C-mannosyltransferase DPY19L2 758 87.4 12 2.4.1.- Nucleus inner membrane 10 1 Spermatogenic failure 9 0 1 5 2007-12-04 Q6NVU6 UFSP1_HUMAN UFSP1 Ufm1-specific protease 1 218 23.3 7 3.4.22.- Cytoplasm 0 0 0 1 5 2007-03-20 Q6NXT4 ZNT6_HUMAN SLC30A6 Zinc transporter 6 461 51.1 2 Golgi apparatus; Apical cell membrane 6 0 0 1 5 2007-12-04 Q6NYC8 PPR18_HUMAN PPP1R18 Phostensin 613 67.9 6 Cytoplasm 0 0 0 1 5 2005-06-21 Q6NZY7 BORG3_HUMAN CDC42EP5 Cdc42 effector protein 5 148 15.2 19 Endomembrane system; Cytoplasm 0 0 0 1 5 2005-07-19 Q6P087 RUSD3_HUMAN RPUSD3 Mitochondrial mRNA pseudouridine synthase RPUSD3 351 38.5 3 5.4.99.- Mitochondrion matrix 0 0 0 1 5 2007-09-11 Q6P1K1 HRG1_HUMAN SLC48A1 Heme transporter HRG1 146 16.4 12 Endosome membrane; Lysosome membrane; Cytoplasmic vesicle 4 0 0 1 5 2008-09-02 Q6P1R4 DUS1L_HUMAN DUS1L tRNA-dihydrouridine(16/17) synthase [NAD(P)(+)]-like 473 53.2 17 1.3.1.88 Cytoplasm; Nucleus 0 0 0 1 5 2006-07-25 Q6P1S2 MISO1_HUMAN MISO1 Mitochondrial inner membrane subdomain organizer 1 294 33.8 3 Mitochondrion inner membrane 1 0 0 1 5 2006-10-31 Q6P5W5 S39A4_HUMAN SLC39A4 Zinc transporter ZIP4 647 68.4 8 Cell membrane; Recycling endosome membrane; Apical cell membrane 8 1 Acrodermatitis enteropathica, zinc-deficiency type 0 1 5 2005-10-25 Q6P5Z2 PKN3_HUMAN PKN3 Serine/threonine-protein kinase N3 889 99.4 9 2.7.11.13 Nucleus; Cytoplasm 0 0 0 1 5 2005-10-25 Q6P9A2 GLT18_HUMAN GALNT18 Polypeptide N-acetylgalactosaminyltransferase 18 607 69.6 11 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q6P9G9 ZN449_HUMAN ZNF449 Zinc finger protein 449 518 59.9 X Nucleus 0 0 0 1 5 2004-11-23 Q6PEW1 ZCH12_HUMAN ZCCHC12 Zinc finger CCHC domain-containing protein 12 402 45.4 X 0 0 0 1 5 2005-05-10 Q6PFW1 VIP1_HUMAN PPIP5K1 Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 1433 159.5 15 2.7.4.24 Cytoplasm; Cell membrane 0 0 0 1 5 2008-01-15 Q6PGQ7 BORA_HUMAN BORA Protein aurora borealis 559 61.2 13 0 0 0 1 5 2007-01-23 Q6PIZ9 TRAT1_HUMAN TRAT1 T-cell receptor-associated transmembrane adapter 1 186 21.2 3 Cell membrane 1 0 0 1 5 2005-12-20 Q6PJW8 CNST_HUMAN CNST Consortin 725 79.6 1 Cell membrane; Golgi apparatus; Cytoplasmic vesicle 1 0 0 1 5 2007-05-29 Q6PUV4 CPLX2_HUMAN CPLX2 Complexin-2 134 15.4 5 Cytoplasm; Presynapse; Nucleus; Perikaryon 0 0 0 1 5 2004-08-16 Q6Q4G3 AMPQ_HUMAN LVRN Aminopeptidase Q 990 113.3 5 3.4.11.- Membrane 1 0 0 1 5 2006-07-25 Q6QNY0 BL1S3_HUMAN BLOC1S3 Biogenesis of lysosome-related organelles complex 1 subunit 3 202 21.3 19 Cytoplasm 0 1 Hermansky-Pudlak syndrome 8 0 1 5 2006-05-16 Q6UB98 ANR12_HUMAN ANKRD12 Ankyrin repeat domain-containing protein 12 2062 235.7 18 Nucleus 0 0 0 1 5 2004-07-19 Q6UW15 REG3G_HUMAN REG3G Regenerating islet-derived protein 3-gamma 175 19.3 2 Secreted; Cytoplasm 0 0 0 1 5 2005-07-05 Q6UW78 UQCC3_HUMAN UQCC3 Ubiquinol-cytochrome-c reductase complex assembly factor 3 93 10.1 11 Mitochondrion inner membrane 1 1 Mitochondrial complex III deficiency, nuclear type 9 0 1 5 2004-11-23 Q6UWR7 ENPP6_HUMAN ENPP6 Glycerophosphocholine cholinephosphodiesterase ENPP6 440 50.2 4 3.1.4.-, 3.1.4.38 Cell membrane 0 0 0 1 5 2006-06-13 Q6UWW8 EST3_HUMAN CES3 Carboxylesterase 3 571 62.3 16 3.1.1.1 Endoplasmic reticulum lumen 0 0 0 1 5 2007-10-02 Q6UX01 LMBRL_HUMAN LMBR1L Protein LMBR1L 489 55.2 12 Cell membrane; Endoplasmic reticulum membrane 9 0 0 1 5 2006-01-10 Q6UX06 OLFM4_HUMAN OLFM4 Olfactomedin-4 510 57.3 13 Secreted; Mitochondrion 0 0 0 1 5 2007-11-13 Q6UX40 TM107_HUMAN TMEM107 Transmembrane protein 107 140 15.5 17 Membrane; Cell projection 4 2 Meckel syndrome 13; Orofaciodigital syndrome 16 0 1 5 2006-10-31 Q6UX41 BTNL8_HUMAN BTNL8 Butyrophilin-like protein 8 500 56.7 5 Membrane 1 0 0 1 5 2005-02-01 Q6UX65 DRAM2_HUMAN DRAM2 DNA damage-regulated autophagy modulator protein 2 266 29.8 1 Lysosome membrane; Photoreceptor inner segment; Apical cell membrane 6 1 Cone-rod dystrophy 21 0 1 5 2006-10-31 Q6UXB2 CXL17_HUMAN CXCL17 C-X-C motif chemokine 17 119 13.8 19 Secreted 0 0 0 1 5 2007-11-13 Q6UXB4 CLC4G_HUMAN CLEC4G C-type lectin domain family 4 member G 293 32.6 19 Cell membrane 1 0 0 1 5 2006-02-21 Q6UXG2 ELAP1_HUMAN ELAPOR1 Endosome/lysosome-associated apoptosis and autophagy regulator 1 1013 111.4 1 Cell membrane; Late endosome membrane; Golgi apparatus; Lysosome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2007-05-15 Q6UXI9 NPNT_HUMAN NPNT Nephronectin 565 61.9 4 Secreted 0 0 0 1 5 2007-07-24 Q6UXV4 MIC27_HUMAN APOOL MICOS complex subunit MIC27 268 29.2 X Mitochondrion inner membrane; Mitochondrion 2 0 0 1 5 2005-09-27 Q6UY09 CEA20_HUMAN CEACAM20 Cell adhesion molecule CEACAM20 596 65.8 19 Cell projection; Apical cell membrane 1 0 0 1 5 2005-08-16 Q6VB84 FX4L3_HUMAN FOXD4L3 Forkhead box protein D4-like 3 417 45.8 9 Nucleus 0 0 0 1 5 2007-09-11 Q6VY07 PACS1_HUMAN PACS1 Phosphofurin acidic cluster sorting protein 1 963 104.9 11 Golgi apparatus 0 1 Schuurs-Hoeijmakers syndrome 0 1 5 2004-09-13 Q6W5P4 NPSR1_HUMAN NPSR1 Neuropeptide S receptor 371 42.7 7 Cell membrane 7 0 0 1 5 2005-11-08 Q6WCQ1 MPRIP_HUMAN MPRIP Myosin phosphatase Rho-interacting protein 1025 116.5 17 Cytoplasm 0 0 0 1 5 2006-02-21 Q6XD76 ASCL4_HUMAN ASCL4 Achaete-scute homolog 4 172 19.3 12 Nucleus 0 0 0 1 5 2008-02-05 Q6Y1H2 HACD2_HUMAN HACD2 Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 254 28.4 3 4.2.1.134 Endoplasmic reticulum membrane 6 0 0 1 5 2008-09-02 Q6YP21 KAT3_HUMAN KYAT3 Kynurenine--oxoglutarate transaminase 3 454 51.4 1 2.6.1.7 0 0 0 1 5 2007-05-15 Q6ZN55 ZN574_HUMAN ZNF574 Zinc finger protein 574 896 98.9 19 Cytoplasm; Nucleus 0 0 0 1 5 2007-02-06 Q6ZN66 GBP6_HUMAN GBP6 Guanylate-binding protein 6 633 72.4 1 3.6.5.- Cytoplasmic vesicle 0 0 0 1 5 2008-01-15 Q6ZNK6 TIFAB_HUMAN TIFAB TRAF-interacting protein with FHA domain-containing protein B 161 17.9 5 0 0 0 1 5 2008-02-26 Q6ZP29 LAAT1_HUMAN SLC66A1 Lysosomal amino acid transporter 1 homolog 291 31.9 1 Lysosome membrane 7 0 0 1 5 2007-04-03 Q6ZQW0 I23O2_HUMAN IDO2 Indoleamine 2,3-dioxygenase 2 407 45.4 8 1.13.11.- 0 0 0 1 5 2007-05-01 Q6ZQX7 LIAT1_HUMAN LIAT1 Protein LIAT1 453 49.7 17 Nucleus; Cytoplasm 0 0 0 1 5 2008-06-10 Q6ZR37 PKHG7_HUMAN PLEKHG7 Pleckstrin homology domain-containing family G member 7 691 79.5 12 0 0 0 1 5 2008-02-05 Q6ZRI6 PT2IP_HUMAN PRMT2IP PRMT2-interacting protein 1047 110.7 15 Cytoplasm; Nucleus 0 0 0 1 5 2006-06-27 Q6ZRP7 QSOX2_HUMAN QSOX2 Sulfhydryl oxidase 2 698 77.5 9 1.8.3.2 Membrane; Secreted; Cell membrane; Nucleus membrane 1 0 0 1 5 2006-09-19 Q6ZSB9 ZBT49_HUMAN ZBTB49 Zinc finger and BTB domain-containing protein 49 765 85.1 4 Cytoplasm; Nucleus 0 0 0 1 5 2005-11-22 Q6ZT21 TMPPE_HUMAN TMPPE Transmembrane protein with metallophosphoesterase domain 453 49.5 3 3.1.-.- Membrane 5 0 0 1 5 2008-02-26 Q6ZT62 BGIN_HUMAN BARGIN Bargin 677 73.6 22 Cell membrane; Cytoplasm 0 0 0 1 5 2017-10-25 Q6ZTQ3 RASF6_HUMAN RASSF6 Ras association domain-containing protein 6 369 43.4 4 0 0 0 1 5 2006-06-27 Q6ZVD7 STOX1_HUMAN STOX1 Storkhead-box protein 1 989 111 10 Cytoplasm; Nucleus 0 1 Pre-eclampsia/eclampsia 4 0 1 5 2004-10-11 Q6ZVE7 GOT1A_HUMAN GOLT1A Vesicle transport protein GOT1A 132 14.9 1 Golgi apparatus membrane 4 0 0 1 5 2006-05-30 Q701N4 KRA52_HUMAN KRTAP5-2 Keratin-associated protein 5-2 177 16.3 11 0 0 0 1 5 2004-12-21 Q70HW3 SAMC_HUMAN SLC25A26 Mitochondrial S-adenosylmethionine carrier protein 274 29.4 3 Mitochondrion inner membrane 6 1 Combined oxidative phosphorylation deficiency 28 0 1 5 2008-02-05 Q70YC4 TALAN_HUMAN ZNF365 Talanin 216 24 10 0 1 Uric acid nephrolithiasis 0 2 5 2005-12-20 Q70Z53 F10C1_HUMAN FRA10AC1 Protein FRA10AC1 315 37.5 10 Nucleus 0 1 Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 0 1 5 2005-08-16 Q711Q0 CEFIP_HUMAN CEFIP Cardiac-enriched FHL2-interacting protein 1435 156.5 10 Cytoplasm 0 1 Cardiomyopathy, dilated, 1QQ 0 1 5 2007-04-03 Q75N90 FBN3_HUMAN FBN3 Fibrillin-3 2809 300.4 19 Secreted 0 0 0 1 5 2004-07-19 Q75WM6 H1FNT_HUMAN H1-7 Testis-specific H1 histone 255 28.1 12 Nucleus; Chromosome 0 0 0 1 5 2008-07-01 Q76N32 CEP68_HUMAN CEP68 Centrosomal protein of 68 kDa 757 81.1 2 Cytoplasm 0 0 0 1 5 2005-04-26 Q76NI1 KNDC1_HUMAN KNDC1 Kinase non-catalytic C-lobe domain-containing protein 1 1749 191.4 10 Cell projection; Perikaryon 0 0 0 1 5 2007-10-23 Q7L1S5 CHST9_HUMAN CHST9 Carbohydrate sulfotransferase 9 443 52.1 18 2.8.2.- Golgi apparatus membrane 1 0 0 1 5 2005-03-15 Q7L5L3 GDPD3_HUMAN GDPD3 Lysophospholipase D GDPD3 318 36.6 16 3.1.4.- Membrane; Cytoplasm; Endoplasmic reticulum 2 0 0 1 5 2006-10-03 Q7L5N7 PCAT2_HUMAN LPCAT2 Lysophosphatidylcholine acyltransferase 2 544 60.2 16 2.3.1.23 Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell membrane; Lipid droplet 1 0 0 1 5 2006-07-25 Q7L8L6 FAKD5_HUMAN FASTKD5 Non-canonical pre-mRNAs endonuclease FASTKD5, mitochondrial 764 86.6 20 3.1.27.- Mitochondrion matrix 0 1 Mitochondrial complex IV deficiency, nuclear type 24 0 1 5 2007-05-01 Q7LGA3 HS2ST_HUMAN HS2ST1 Heparan sulfate 2-O-sulfotransferase 1 356 41.9 1 2.8.2.- Golgi apparatus membrane 1 1 Neurofacioskeletal syndrome with or without renal agenesis 0 1 5 2005-06-21 Q7LGC8 CHST3_HUMAN CHST3 Carbohydrate sulfotransferase 3 479 54.7 10 2.8.2.17, 2.8.2.21 Golgi apparatus membrane 1 1 Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 5 2005-03-15 Q7RTS7 K2C74_HUMAN KRT74 Keratin, type II cytoskeletal 74 529 57.9 12 0 3 Woolly hair autosomal dominant; Hypotrichosis 3; Ectodermal dysplasia 7, hair/nail type 0 1 5 2008-01-15 Q7RTS9 DYM_HUMAN DYM Dymeclin 669 75.9 18 Cytoplasm; Golgi apparatus; Membrane 0 2 Dyggve-Melchior-Clausen syndrome; Smith-McCort dysplasia 1 0 1 5 2005-07-05 Q7RTY8 TMPS7_HUMAN TMPRSS7 Transmembrane protease serine 7 843 94.4 3 3.4.21.- Cell membrane 1 0 0 1 5 2005-03-15 Q7RTZ1 OVCH2_HUMAN OVCH2 Ovochymase-2 564 62.6 3.4.21.- Secreted 0 0 0 1 5 2006-11-28 Q7Z2D5 PLPR4_HUMAN PLPPR4 Phospholipid phosphatase-related protein type 4 763 83 1 Postsynaptic density membrane 6 0 0 1 5 2008-02-05 Q7Z2X4 PCLI1_HUMAN PID1 PTB-containing, cubilin and LRP1-interacting protein 250 28.3 2 Cytoplasm 0 0 0 1 5 2007-02-06 Q7Z3D4 LYSM3_HUMAN LYSMD3 LysM and putative peptidoglycan-binding domain-containing protein 3 306 34.5 5 Cell membrane; Golgi apparatus 1 0 0 1 5 2006-09-05 Q7Z3E1 PARPT_HUMAN TIPARP Protein mono-ADP-ribosyltransferase TIPARP 657 76.2 3 2.4.2.- Nucleus 0 0 0 1 5 2006-07-25 Q7Z401 MYCPP_HUMAN DENND4A C-myc promoter-binding protein 1863 209.2 15 Nucleus 0 0 0 1 5 2006-02-21 Q7Z408 CSMD2_HUMAN CSMD2 CUB and sushi domain-containing protein 2 3487 380 1 Cell membrane 1 0 0 1 5 2003-11-28 Q7Z443 PK1L3_HUMAN PKD1L3 Polycystin-1-like protein 3 1732 195.9 16 Cell membrane 11 0 0 1 5 2008-02-26 Q7Z4H8 PLGT3_HUMAN POGLUT3 Protein O-glucosyltransferase 3 507 58.6 11 2.4.1.- Endoplasmic reticulum lumen 0 0 0 1 5 2006-07-25 Q7Z4N2 TRPM1_HUMAN TRPM1 Transient receptor potential cation channel subfamily M member 1 1603 182.2 15 Cell membrane; Endoplasmic reticulum membrane; Cell projection 6 1 Night blindness, congenital stationary, 1C 0 1 5 2008-04-08 Q7Z4T8 GLTL5_HUMAN GALNTL5 Inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 443 51.4 7 Late endosome membrane 1 0 0 1 5 2004-08-16 Q7Z5H3 RHG22_HUMAN ARHGAP22 Rho GTPase-activating protein 22 698 76.8 10 Cytoplasm; Nucleus 0 0 0 1 5 2007-03-20 Q7Z5J1 DHI1L_HUMAN HSD11B1L Hydroxysteroid 11-beta-dehydrogenase 1-like protein 315 34.3 19 1.1.1.- Secreted 0 0 0 1 5 2008-02-05 Q7Z5J4 RAI1_HUMAN RAI1 Retinoic acid-induced protein 1 1906 203.4 17 Cytoplasm; Nucleus 0 1 Smith-Magenis syndrome 0 1 5 2004-07-19 Q7Z5L2 R3HCL_HUMAN R3HCC1L Coiled-coil domain-containing protein R3HCC1L 792 87.9 10 0 0 0 1 5 2005-08-02 Q7Z5V6 SAXO4_HUMAN SAXO4 Stabilizer of axonemal microtubules 4 425 47.3 11 Cell projection; Cytoplasm 0 0 0 1 5 2007-02-06 Q7Z602 GP141_HUMAN GPR141 Probable G protein-coupled receptor 141 305 35.5 7 Cell membrane 7 0 0 1 5 2005-04-26 Q7Z6P3 RAB44_HUMAN RAB44 Ras-related protein Rab-44 1021 110.9 6 3.6.5.2 Cell membrane; Lysosome membrane 0 0 0 1 5 2008-05-20 Q7Z7A1 CNTRL_HUMAN CNTRL Centriolin 2325 268.9 9 Cytoplasm; Midbody 0 0 0 1 5 2008-03-18 Q7Z7B0 FLIP1_HUMAN FILIP1 Filamin-A-interacting protein 1 1213 138.1 6 Cytoplasm 0 1 Neuromuscular disorder, congenital, with dysmorphic facies 0 1 5 2006-05-16 Q7Z7G1 CLNK_HUMAN CLNK Cytokine-dependent hematopoietic cell linker 428 49.6 4 Cytoplasm 0 0 0 1 5 2008-01-15 Q7Z7K6 CENPV_HUMAN CENPV Centromere protein V 275 29.9 17 Chromosome; Nucleus; Cytoplasm 0 0 0 1 5 2006-06-27 Q7Z7N9 T179B_HUMAN TMEM179B Transmembrane protein 179B 219 23.6 11 Membrane 4 0 0 1 5 2008-04-08 Q86SQ3 AGRE4_HUMAN ADGRE4P Putative adhesion G protein-coupled receptor E4P 457 50.9 Cell membrane 7 0 0 5 5 2004-03-01 Q86T26 TM11B_HUMAN TMPRSS11B Transmembrane protease serine 11B 416 46.3 4 3.4.21.- Cell membrane 1 0 0 1 5 2007-09-11 Q86TH1 ATL2_HUMAN ADAMTSL2 ADAMTS-like protein 2 951 104.6 9 Secreted 0 1 Geleophysic dysplasia 1 0 1 5 2006-09-19 Q86TJ2 TAD2B_HUMAN TADA2B Transcriptional adapter 2-beta 420 48.5 4 Nucleus 0 0 0 1 5 2008-01-15 Q86TL0 ATG4D_HUMAN ATG4D Cysteine protease ATG4D 474 52.9 19 3.4.22.- Cytoplasm 0 0 0 1 5 2005-03-15 Q86TP1 PRUN1_HUMAN PRUNE1 Exopolyphosphatase PRUNE1 453 50.2 1 3.6.1.14, 3.6.1.25 Cytoplasm; Nucleus; Cell junction 0 1 Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 1 5 2008-06-10 Q86TW2 ADCK1_HUMAN ADCK1 AarF domain-containing protein kinase 1 530 60.6 14 2.7.-.- Mitochondrion 0 0 0 1 5 2006-10-03 Q86UK5 LBN_HUMAN EVC2 Limbin 1308 147.9 4 Cell membrane; Cytoplasm; Cell projection; Nucleus 1 2 Ellis-van Creveld syndrome; Acrofacial dysostosis, Weyers type 0 1 5 2003-11-07 Q86UN2 R4RL1_HUMAN RTN4RL1 Reticulon-4 receptor-like 1 441 49.1 17 Cell membrane; Membrane raft; Perikaryon; Cell projection 0 0 0 1 5 2006-02-07 Q86UV5 UBP48_HUMAN USP48 Ubiquitin carboxyl-terminal hydrolase 48 1035 119 1 3.4.19.12 Cytoplasm; Nucleus; Cell projection 0 1 Deafness, autosomal dominant, 85 0 1 5 2006-09-19 Q86UX2 ITIH5_HUMAN ITIH5 Inter-alpha-trypsin inhibitor heavy chain H5 942 104.6 Secreted 0 0 0 1 5 2008-04-29 Q86UX6 ST32C_HUMAN STK32C Serine/threonine-protein kinase 32C 486 55 10 2.7.11.1 0 0 0 1 5 2006-04-18 Q86VE9 SERC5_HUMAN SERINC5 Serine incorporator 5 423 47 5 Cell membrane 9 0 0 1 5 2008-04-29 Q86VR2 RETR3_HUMAN RETREG3 Reticulophagy regulator 3 466 51.4 17 Endoplasmic reticulum membrane 4 0 0 1 5 2007-05-29 Q86VW0 SESD1_HUMAN SESTD1 SEC14 domain and spectrin repeat-containing protein 1 696 79.3 2 0 0 0 1 5 2007-11-13 Q86VY4 TSYL5_HUMAN TSPYL5 Testis-specific Y-encoded-like protein 5 417 45.1 8 0 0 0 1 5 2007-10-23 Q86W10 CP4Z1_HUMAN CYP4Z1 Cytochrome P450 4Z1 505 59.1 1 1.14.14.1 Endoplasmic reticulum membrane; Microsome membrane 1 0 0 1 5 2004-06-07 Q86W54 SPA24_HUMAN SPATA24 Spermatogenesis-associated protein 24 205 23.6 5 Cytoplasm; Nucleus 0 0 0 1 5 2008-04-08 Q86WA9 S2611_HUMAN SLC26A11 Sodium-independent sulfate anion transporter 606 65.3 17 Cell membrane; Lysosome membrane; Apical cell membrane; Basolateral cell membrane 12 0 0 1 5 2008-02-26 Q86WB7 UN93A_HUMAN UNC93A N-acetylglucosamine transporter UNC93A 457 50.3 6 Cell membrane 11 0 0 1 5 2005-06-07 Q86WD7 SPA9_HUMAN SERPINA9 Serpin A9 417 46.6 14 Secreted 0 0 0 1 5 2005-09-27 Q86WI3 NLRC5_HUMAN NLRC5 Protein NLRC5 1866 204.6 16 Cytoplasm 0 0 0 1 5 2007-07-24 Q86WK6 AMGO1_HUMAN AMIGO1 Amphoterin-induced protein 1 493 55.2 1 Cell membrane; Perikaryon; Cell projection 1 0 0 1 5 2005-06-21 Q86WN1 FCSD1_HUMAN FCHSD1 F-BAR and double SH3 domains protein 1 690 76.9 5 Cytoplasm; Perikaryon; Cell projection; Cytoplasmic vesicle 0 0 0 1 5 2007-02-20 Q86WP2 GPBP1_HUMAN GPBP1 Vasculin 473 53.3 5 Nucleus; Cytoplasm 0 0 0 1 5 2008-03-18 Q86WS5 TMPSC_HUMAN TMPRSS12 Transmembrane protease serine 12 348 38.6 12 3.4.21.- Cell membrane; Cytoplasmic vesicle 1 0 0 1 5 2007-06-12 Q86X51 EZHIP_HUMAN EZHIP EZH inhibitory protein 503 51.9 X Nucleus; Cytoplasm 0 0 0 1 5 2008-02-26 Q86X67 NUD13_HUMAN NUDT13 NAD(P)H pyrophosphatase NUDT13, mitochondrial 352 39.7 10 3.6.1.22 Mitochondrion 0 0 0 1 5 2004-08-31 Q86XA0 MET23_HUMAN METTL23 Histone-arginine methyltransferase METTL23 190 21.5 17 2.1.1.319 Nucleus; Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 44 0 1 5 2008-02-26 Q86XF7 ZN575_HUMAN ZNF575 Zinc finger protein 575 245 26.8 19 Nucleus 0 0 0 1 5 2005-12-06 Q86XP1 DGKH_HUMAN DGKH Diacylglycerol kinase eta 1220 134.9 13 2.7.1.107 Cytoplasm; Cell membrane 0 0 0 1 5 2006-06-13 Q86XX4 FRAS1_HUMAN FRAS1 Extracellular matrix organizing protein FRAS1 4008 443.2 4 Cell membrane 1 1 Fraser syndrome 1 0 1 5 2004-08-16 Q86Y91 KI18B_HUMAN KIF18B Kinesin-like protein KIF18B 852 93 17 Nucleus; Cytoplasm 0 0 0 1 5 2008-02-26 Q86YJ5 MARH9_HUMAN MARCHF9 E3 ubiquitin-protein ligase MARCHF9 346 37.8 12 2.3.2.27 Golgi apparatus membrane; Lysosome membrane 2 0 0 1 5 2007-02-06 Q86YR5 GPSM1_HUMAN GPSM1 G protein-signaling modulator 1 675 74.5 9 Cytoplasm; Endoplasmic reticulum membrane; Golgi apparatus membrane; Cell membrane 0 0 0 1 5 2006-10-17 Q86Z20 CC125_HUMAN CCDC125 Coiled-coil domain-containing protein 125 511 58.6 5 Cytoplasm 0 0 0 1 5 2007-05-29 Q86Z23 C1QL4_HUMAN C1QL4 Complement C1q-like protein 4 238 24.9 12 Secreted 0 0 0 1 5 2007-02-06 Q8HWS3 RFX6_HUMAN RFX6 DNA-binding protein RFX6 928 102.5 6 Nucleus 0 1 Mitchell-Riley syndrome 0 1 5 2008-01-15 Q8IU68 TMC8_HUMAN TMC8 Transmembrane channel-like protein 8 726 81.6 17 Endoplasmic reticulum membrane; Golgi apparatus membrane; Nucleus membrane 8 1 Epidermodysplasia verruciformis 2 0 1 5 2005-12-06 Q8IU89 CERS3_HUMAN CERS3 Ceramide synthase 3 383 46.3 15 Endoplasmic reticulum membrane 6 1 Ichthyosis, congenital, autosomal recessive 9 0 1 5 2004-07-19 Q8IUC2 KRA81_HUMAN KRTAP8-1 Keratin-associated protein 8-1 63 6.8 21 0 0 0 1 5 2003-06-27 Q8IUG5 MY18B_HUMAN MYO18B Unconventional myosin-XVIIIb 2567 285.2 22 Cytoplasm; Nucleus 0 1 Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism 0 1 5 2003-07-11 Q8IUQ0 CLVS1_HUMAN CLVS1 Clavesin-1 354 40.8 8 Golgi apparatus; Cytoplasmic vesicle; Early endosome membrane 0 0 0 1 5 2007-08-21 Q8IUR6 CRERF_HUMAN CREBRF CREB3 regulatory factor 639 72.1 5 Nucleus 0 0 0 1 5 2007-09-11 Q8IUW5 RELL1_HUMAN RELL1 RELT-like protein 1 271 29.3 4 Cell membrane 1 0 0 1 5 2008-03-18 Q8IUZ5 AT2L2_HUMAN PHYKPL 5-phosphohydroxy-L-lysine phospho-lyase 450 49.7 5 4.2.3.134 Mitochondrion 0 1 Phosphohydroxylysinuria 0 1 5 2007-05-15 Q8IV53 DEN1C_HUMAN DENND1C DENN domain-containing protein 1C 801 87.1 19 Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 2007-09-11 Q8IV76 PASD1_HUMAN PASD1 Circadian clock protein PASD1 773 87.4 X Nucleus 0 0 0 1 5 2007-09-11 Q8IVB4 SL9A9_HUMAN SLC9A9 Sodium/hydrogen exchanger 9 645 72.6 3 Late endosome membrane; Early endosome membrane; Recycling endosome membrane; Cell membrane; Cytoplasmic vesicle 13 1 Autism 16 0 1 5 2004-03-01 Q8IVE3 PKHH2_HUMAN PLEKHH2 Pleckstrin homology domain-containing family H member 2 1493 168.2 2 Cytoplasm; Cell membrane; Cell projection 0 0 0 1 5 2007-10-02 Q8IVP9 ZN547_HUMAN ZNF547 Zinc finger protein 547 402 46 19 Nucleus 0 0 0 1 5 2005-11-22 Q8IVQ6 ZDH21_HUMAN ZDHHC21 Palmitoyltransferase ZDHHC21 265 31.4 9 2.3.1.225 Golgi apparatus membrane; Golgi apparatus; Cell membrane 4 0 0 1 5 2003-10-24 Q8IVW6 ARI3B_HUMAN ARID3B AT-rich interactive domain-containing protein 3B 561 60.6 15 Nucleus 0 0 0 1 5 2007-07-10 Q8IW70 T151B_HUMAN TMEM151B Transmembrane protein 151B 566 61.5 6 Cell membrane; Endoplasmic reticulum membrane; Endosome membrane 2 0 0 1 5 2007-10-23 Q8IWB7 WDFY1_HUMAN WDFY1 WD repeat and FYVE domain-containing protein 1 410 46.3 2 Early endosome 0 0 0 1 5 2004-08-16 Q8IWD4 CC117_HUMAN CCDC117 Coiled-coil domain-containing protein 117 279 30.5 22 Cytoplasm; Nucleus 0 0 0 1 5 2006-10-31 Q8IWL1 SFPA2_HUMAN SFTPA2 Pulmonary surfactant-associated protein A2 248 26.2 10 Secreted 0 1 Interstitial lung disease 2 0 1 5 1988-04-01 Q8IWR1 TRI59_HUMAN TRIM59 Tripartite motif-containing protein 59 403 47.1 3 2.3.2.27 Endoplasmic reticulum membrane 1 0 0 1 5 2006-09-19 Q8IWX5 SGPP2_HUMAN SGPP2 Sphingosine-1-phosphate phosphatase 2 399 44.7 2 3.1.3.- Endoplasmic reticulum membrane 9 0 0 1 5 2003-10-10 Q8IWX7 UN45B_HUMAN UNC45B Protein unc-45 homolog B 931 103.7 17 Cytoplasm 0 2 Cataract 43; Myopathy, myofibrillar, 11 0 1 5 2006-09-19 Q8IWX8 CHERP_HUMAN CHERP Calcium homeostasis endoplasmic reticulum protein 916 103.7 19 Cytoplasm; Endoplasmic reticulum 0 0 0 1 5 2007-09-11 Q8IWZ4 TRI48_HUMAN TRIM48 E3 ubiquitin-protein ligase TRIM48 224 26.4 11 2.3.2.27 Cytoplasm 0 0 0 1 5 2004-11-23 Q8IWZ5 TRI42_HUMAN TRIM42 Tripartite motif-containing protein 42 723 82.7 3 0 0 0 1 5 2004-12-07 Q8IXH8 CAD26_HUMAN CDH26 Cadherin-like protein 26 832 92.4 20 Cell membrane 1 0 0 1 5 2003-09-26 Q8IY26 PLPP6_HUMAN PLPP6 Polyisoprenoid diphosphate/phosphate phosphohydrolase PLPP6 295 32.2 9 3.1.3.-, 3.6.1.-, 3.6.1.68 Endoplasmic reticulum membrane; Nucleus envelope; Nucleus inner membrane 4 0 0 1 5 2006-06-13 Q8IYA6 CKP2L_HUMAN CKAP2L Cytoskeleton-associated protein 2-like 745 83.6 2 Cytoplasm 0 1 Filippi syndrome 0 1 5 2008-03-18 Q8IYE0 CC146_HUMAN CCDC146 Coiled-coil domain-containing protein 146 955 112.8 7 Cytoplasm; Midbody 0 1 Spermatogenic failure 94 0 1 5 2008-02-05 Q8IYE1 CCD13_HUMAN CCDC13 Coiled-coil domain-containing protein 13 715 80.9 3 Cytoplasm 0 0 0 1 5 2005-02-15 Q8IYX8 CE57L_HUMAN CEP57L1 Centrosomal protein CEP57L1 460 53.6 6 Cytoplasm 0 0 0 1 5 2004-12-21 Q8IZ07 AN13A_HUMAN ANKRD13A Ankyrin repeat domain-containing protein 13A 590 67.6 12 Cell membrane; Late endosome 0 0 0 1 5 2004-07-19 Q8IZ73 RUSD2_HUMAN RPUSD2 Pseudouridylate synthase RPUSD2 545 61.3 15 5.4.99.-, 5.4.99.28, 5.4.99.42 0 0 0 1 5 2007-09-11 Q8IZ96 CKLF1_HUMAN CMTM1 CKLF-like MARVEL transmembrane domain-containing protein 1 169 18.6 16 Membrane 4 0 0 1 5 2003-09-19 Q8IZD9 DOCK3_HUMAN DOCK3 Dedicator of cytokinesis protein 3 2030 233.1 3 Cytoplasm 0 1 Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 0 1 5 2003-07-03 Q8IZF7 AGRF2_HUMAN ADGRF2P Putative adhesion G protein-coupled receptor F2P 708 78.6 6 Membrane 7 0 0 5 5 2005-02-15 Q8IZJ3 CPMD8_HUMAN CPAMD8 C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 1885 206.7 19 Secreted; Cell membrane 0 1 Anterior segment dysgenesis 8 0 1 5 2008-02-05 Q8IZV5 RDH10_HUMAN RDH10 Retinol dehydrogenase 10 341 38.1 8 1.1.1.300 Microsome membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2007-10-23 Q8IZW8 TENS4_HUMAN TNS4 Tensin-4 715 76.8 17 Cell junction; Cytoplasm 0 0 0 1 5 2006-09-05 Q8N0U8 VKORL_HUMAN VKORC1L1 Vitamin K epoxide reductase complex subunit 1-like protein 1 176 19.8 7 1.17.4.4 Endoplasmic reticulum membrane 4 0 0 1 5 2005-04-12 Q8N128 F177A_HUMAN FAM177A1 Protein FAM177A1 213 23.8 14 Golgi apparatus 0 1 Neurodevelopmental disorder with white matter abnormalities and gait disturbance 0 1 5 2004-04-13 Q8N131 PORIM_HUMAN TMEM123 Porimin 208 21.5 11 Membrane 1 0 0 1 5 2005-12-20 Q8N135 LGI4_HUMAN LGI4 Leucine-rich repeat LGI family member 4 537 59.1 19 Secreted 0 1 Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 0 1 5 2003-07-03 Q8N142 PURA1_HUMAN ADSS1 Adenylosuccinate synthetase isozyme 1 457 50.2 14 6.3.4.4 Cytoplasm 0 1 Myopathy, distal, 5 0 1 5 2003-10-03 Q8N183 NDUF2_HUMAN NDUFAF2 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 169 19.9 5 Mitochondrion 0 1 Mitochondrial complex I deficiency, nuclear type 10 0 1 5 2005-06-07 Q8N1B4 VPS52_HUMAN VPS52 Vacuolar protein sorting-associated protein 52 homolog 723 82.2 6 Golgi apparatus; Endosome membrane; Recycling endosome 0 0 0 1 5 2005-11-22 Q8N1E6 FXL14_HUMAN FBXL14 F-box/LRR-repeat protein 14 418 45.9 12 Cytoplasm 0 0 0 1 5 2004-06-07 Q8N1L9 BATF2_HUMAN BATF2 Basic leucine zipper transcriptional factor ATF-like 2 274 29.4 11 Nucleus 0 0 0 1 5 2007-05-29 Q8N1N2 DYNAP_HUMAN DYNAP Dynactin-associated protein 184 19.6 18 Golgi apparatus membrane; Cell membrane 1 0 0 1 5 2005-08-16 Q8N2M8 CLASR_HUMAN CLASRP CLK4-associating serine/arginine rich protein 674 77.2 19 Nucleus 0 0 0 1 5 2003-09-19 Q8N302 AGGF1_HUMAN AGGF1 Angiogenic factor with G patch and FHA domains 1 714 81 5 Cytoplasm; Secreted 0 0 0 1 5 2004-03-15 Q8N350 CBARP_HUMAN CBARP Voltage-dependent calcium channel beta subunit-associated regulatory protein 705 73.9 19 Cytoplasmic vesicle; Cell membrane; Cell projection 1 0 0 1 5 2005-08-30 Q8N386 LRC25_HUMAN LRRC25 Leucine-rich repeat-containing protein 25 305 33.2 19 Membrane; Cytoplasm 1 0 0 1 5 2004-05-24 Q8N387 MUC15_HUMAN MUC15 Mucin-15 334 36.3 11 Cell membrane 1 0 0 1 5 2004-07-19 Q8N394 TMTC2_HUMAN TMTC2 Protein O-mannosyl-transferase TMTC2 836 94.1 12 2.4.1.109 Membrane; Endoplasmic reticulum 11 0 0 1 5 2007-03-20 Q8N3A8 PARP8_HUMAN PARP8 Protein mono-ADP-ribosyltransferase PARP8 854 95.9 5 2.4.2.- 0 0 0 1 5 2006-10-17 Q8N3F0 MTURN_HUMAN MTURN Maturin 131 14.9 7 Cytoplasm 0 0 0 1 5 2007-07-10 Q8N3J2 METL4_HUMAN METTL4 N(6)-adenine-specific methyltransferase METTL4 472 54 18 Nucleus; Cytoplasm; Mitochondrion matrix 0 0 0 1 5 2006-10-03 Q8N3J3 HROB_HUMAN HROB Homologous recombination OB-fold protein 647 69.8 17 Nucleus; Chromosome 0 1 Ovarian dysgenesis 11 0 1 5 2007-05-29 Q8N3T1 GLT15_HUMAN GALNT15 Polypeptide N-acetylgalactosaminyltransferase 15 639 73.1 3 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q8N3V7 SYNPO_HUMAN SYNPO Synaptopodin 929 99.5 5 Cytoplasm; Cell junction; Perikaryon; Cell projection; Postsynaptic density; Synapse 0 0 0 1 5 2004-06-07 Q8N3Y7 RDHE2_HUMAN SDR16C5 Epidermal retinol dehydrogenase 2 309 34.1 8 1.1.1.105 Endoplasmic reticulum membrane 2 0 0 1 5 2007-10-02 Q8N441 FGRL1_HUMAN FGFRL1 Fibroblast growth factor receptor-like 1 504 54.5 4 Membrane 1 0 0 1 5 2005-06-21 Q8N4N3 KLH36_HUMAN KLHL36 Kelch-like protein 36 616 69.9 16 0 0 0 1 5 2007-02-06 Q8N4S7 PAQR4_HUMAN PAQR4 Progestin and adipoQ receptor family member 4 273 29.1 16 Golgi apparatus membrane 6 0 0 1 5 2004-08-31 Q8N573 OXR1_HUMAN OXR1 Oxidation resistance protein 1 874 98 8 Mitochondrion; Nucleus; Golgi apparatus 0 1 Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay 0 1 5 2006-04-04 Q8N594 MPND_HUMAN MPND MPN domain-containing protein 471 50.7 19 3.4.-.- 0 0 0 1 5 2007-03-06 Q8N5C6 SRBD1_HUMAN SRBD1 S1 RNA-binding domain-containing protein 1 995 111.8 2 Nucleus; Cytoplasm; Chromosome 0 0 0 1 5 2007-04-17 Q8N5C8 TAB3_HUMAN TAB3 TGF-beta-activated kinase 1 and MAP3K7-binding protein 3 712 78.7 X 0 0 0 1 5 2006-03-07 Q8N609 TR1L1_HUMAN TRAM1L1 Translocating chain-associated membrane protein 1-like 1 369 42.2 4 Endoplasmic reticulum membrane 8 0 0 1 5 2008-01-15 Q8N6F8 MET27_HUMAN METTL27 Methyltransferase-like protein 27 245 26.5 7 0 0 0 1 5 2006-02-21 Q8N6G5 CGAT2_HUMAN CSGALNACT2 Chondroitin sulfate N-acetylgalactosaminyltransferase 2 542 62.6 10 2.4.1.174 Golgi apparatus 1 0 0 1 5 2005-02-01 Q8N6K0 TEX29_HUMAN TEX29 Testis-expressed protein 29 151 16.6 13 Membrane 1 0 0 1 5 2006-12-12 Q8N6M3 FITM2_HUMAN FITM2 Acyl-coenzyme A diphosphatase FITM2 262 29.9 20 3.6.1.- Endoplasmic reticulum membrane 6 1 Siddiqi syndrome 0 1 5 2003-02-01 Q8N6Q3 CD177_HUMAN CD177 CD177 antigen 437 46.4 19 Cell membrane; Membrane raft; Secreted; Cytoplasmic granule membrane; Cell projection 0 0 0 1 5 2006-04-04 Q8N743 KI3L3_HUMAN KIR3DL3 Killer cell immunoglobulin-like receptor 3DL3 410 44.9 Cell membrane 1 0 0 1 5 2004-04-26 Q8N7E2 CBLL2_HUMAN CBLL2 E3 ubiquitin-protein ligase CBLL2 425 48.8 X 2.3.2.27 Cytoplasm 0 0 0 1 5 2005-10-25 Q8N7X0 ADGB_HUMAN ADGB Androglobin 1667 189.7 6 Cell projection 0 0 0 1 5 2006-04-18 Q8N7X4 MAGB6_HUMAN MAGEB6 Melanoma-associated antigen B6 407 44 X 0 0 0 1 5 2004-01-16 Q8N8U9 BMPER_HUMAN BMPER BMP-binding endothelial regulator protein 685 76 7 Secreted 0 1 Diaphanospondylodysostosis 0 1 5 2004-07-05 Q8N8V2 GBP7_HUMAN GBP7 Guanylate-binding protein 7 638 72.5 1 3.6.1.-, 3.6.5.- Cytoplasmic vesicle membrane 0 0 0 1 5 2008-01-15 Q8N8V4 ANS4B_HUMAN ANKS4B Ankyrin repeat and SAM domain-containing protein 4B 417 46.6 16 Cell projection 0 0 0 1 5 2004-11-09 Q8N9H9 CIROZ_HUMAN CIROZ Ciliated left-right organizer ZP-N domains-containing protein 823 89 1 Secreted 0 1 Heterotaxy, visceral, 14, autosomal 0 1 5 2007-04-17 Q8N9R8 SCAI_HUMAN SCAI Protein SCAI 606 70.4 9 Membrane; Nucleus; Cytoplasm 1 0 0 1 5 2005-08-16 Q8N9W5 DAAF3_HUMAN DNAAF3 Dynein axonemal assembly factor 3 541 59.4 19 Cytoplasm; Dynein axonemal particle 0 1 Ciliary dyskinesia, primary, 2 0 1 5 2007-08-21 Q8N9W6 BOLL_HUMAN BOLL Protein boule-like 283 31.3 2 Cytoplasm 0 0 0 1 5 2004-03-01 Q8NA72 POC5_HUMAN POC5 Centrosomal protein POC5 575 63.4 5 Cytoplasm 0 0 0 1 5 2007-04-03 Q8NAX2 KDF1_HUMAN KDF1 Keratinocyte differentiation factor 1 398 43.6 1 Cytoplasm; Cell junction 0 1 Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0 1 5 2007-05-29 Q8NB15 ZN511_HUMAN ZNF511 Zinc finger protein 511 252 28.3 10 Nucleus 0 0 0 1 5 2005-11-08 Q8NB66 UN13C_HUMAN UNC13C Protein unc-13 homolog C 2214 250.9 15 Cytoplasm; Membrane; Presynaptic cell membrane 0 0 0 1 5 2004-08-16 Q8NBI6 XXLT1_HUMAN XXYLT1 Xyloside xylosyltransferase 1 393 43.8 3 2.4.2.62 Endoplasmic reticulum membrane 1 0 0 1 5 2006-05-16 Q8NC26 ZN114_HUMAN ZNF114 Zinc finger protein 114 417 47.7 19 Nucleus 0 0 0 1 5 2007-05-01 Q8ND23 CARL3_HUMAN CARMIL3 Capping protein, Arp2/3 and myosin-I linker protein 3 1372 150.2 14 Cytoplasm; Cell membrane 0 0 0 1 5 2008-03-18 Q8NDA8 MROH1_HUMAN MROH1 Maestro heat-like repeat-containing protein family member 1 1641 181.2 8 Lysosome membrane 0 0 0 1 5 2008-04-08 Q8NDH3 PEPL1_HUMAN NPEPL1 Probable aminopeptidase NPEPL1 523 55.9 20 3.4.11.- 0 0 0 1 5 2003-04-23 Q8NDH6 ICA1L_HUMAN ICA1L Islet cell autoantigen 1-like protein 482 54.4 2 0 0 0 1 5 2006-01-24 Q8NDZ4 DIK2A_HUMAN DIPK2A Divergent protein kinase domain 2A 430 49.5 3 Cytoplasmic vesicle; Golgi apparatus; Secreted 0 0 0 1 5 2006-03-07 Q8NEA6 GLIS3_HUMAN GLIS3 Zinc finger protein GLIS3 775 83.6 9 Nucleus 0 1 Diabetes mellitus, neonatal, with congenital hypothyroidism 0 1 5 2004-04-13 Q8NEQ6 SRARP_HUMAN SRARP Steroid receptor-associated and regulated protein 169 17.7 1 0 0 0 1 5 2006-07-25 Q8NEY1 NAV1_HUMAN NAV1 Neuron navigator 1 1877 202.5 1 Cytoplasm 0 0 0 1 5 2007-05-15 Q8NEY4 VATC2_HUMAN ATP6V1C2 V-type proton ATPase subunit C 2 427 48.8 2 0 0 0 1 5 2007-05-01 Q8NF99 ZN397_HUMAN ZNF397 Zinc finger protein 397 534 61.1 18 Nucleus 0 0 0 1 5 2003-02-28 Q8NFD2 ANKK1_HUMAN ANKK1 Ankyrin repeat and protein kinase domain-containing protein 1 765 84.6 11 2.7.11.1 0 0 0 1 5 2006-01-24 Q8NFJ6 PKR2_HUMAN PROKR2 Prokineticin receptor 2 384 44 20 Cell membrane 7 1 Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 5 2003-07-19 Q8NFM7 I17RD_HUMAN IL17RD Interleukin-17 receptor D 739 82.4 3 Golgi apparatus membrane; Cell membrane 1 1 Hypogonadotropic hypogonadism 18 with or without anosmia 0 1 5 2005-09-13 Q8NFW5 DMBX1_HUMAN DMBX1 Diencephalon/mesencephalon homeobox protein 1 382 41.2 1 Nucleus 0 0 0 1 5 2006-11-28 Q8NFW8 NEUA_HUMAN CMAS N-acylneuraminate cytidylyltransferase 434 48.4 12 2.7.7.43 Nucleus 0 0 0 1 5 2005-02-01 Q8NFZ3 NLGNY_HUMAN NLGN4Y Neuroligin-4, Y-linked 816 92 Y Cell membrane; Postsynaptic density membrane; Cell projection; Synapse 1 0 0 1 5 2003-05-23 Q8NG98 OR7D4_HUMAN OR7D4 Olfactory receptor 7D4 312 34.4 19 Cell membrane 7 0 0 1 5 2005-07-19 Q8NGC4 O10G3_HUMAN OR10G3 Olfactory receptor 10G3 313 35.1 14 Cell membrane 7 0 0 1 5 2003-10-10 Q8NGI8 O5AN1_HUMAN OR5AN1 Olfactory receptor 5AN1 311 34.8 11 Cell membrane 7 0 0 1 5 2003-10-10 Q8NHS1 CLDN2_HUMAN CLDND2 Claudin domain-containing protein 2 167 18 19 Membrane 4 0 0 1 5 2007-01-09 Q8NHS2 AATC2_HUMAN GOT1L1 Aspartate aminotransferase, cytoplasmic 2 421 47.3 8 2.6.1.1 Cytoplasm 0 0 0 1 5 2008-05-20 Q8TAD2 IL17D_HUMAN IL17D Interleukin-17D 202 21.9 13 Secreted 0 0 0 1 5 2004-04-26 Q8TAG9 EXOC6_HUMAN EXOC6 Exocyst complex component 6 804 93.7 10 Cytoplasm; Cell projection; Midbody 0 0 0 1 5 2002-10-25 Q8TAK6 OLIG1_HUMAN OLIG1 Oligodendrocyte transcription factor 1 271 27.9 21 Nucleus 0 0 0 1 5 2002-08-30 Q8TAX7 MUC7_HUMAN MUC7 Mucin-7 377 39.2 4 Secreted 0 1 Asthma 0 1 5 2006-05-30 Q8TAY7 F110D_HUMAN FAM110D Protein FAM110D 271 28.7 1 0 0 0 1 5 2008-02-26 Q8TB68 PRR7_HUMAN PRR7 Proline-rich protein 7 274 30.9 5 Cell membrane; Postsynaptic cell membrane; Postsynaptic density membrane; Cytoplasm; Synapse; Cell projection; Nucleus 1 0 0 1 5 2008-04-08 Q8TB73 NDNF_HUMAN NDNF Protein NDNF 568 64.7 4 Secreted 0 1 Hypogonadotropic hypogonadism 25 with anosmia 0 1 5 2007-09-11 Q8TB92 HMGC2_HUMAN HMGCLL1 3-hydroxy-3-methylglutaryl-CoA lyase, cytoplasmic 370 39.5 6 4.1.3.4 Cytoplasm; Endoplasmic reticulum membrane 0 0 0 1 5 2008-05-20 Q8TBK6 ZCH10_HUMAN ZCCHC10 Zinc finger CCHC domain-containing protein 10 192 21 5 0 0 0 1 5 2005-05-10 Q8TBM7 TM254_HUMAN TMEM254 Transmembrane protein 254 123 14.2 10 Membrane 3 0 0 1 5 2005-07-19 Q8TBP5 F174A_HUMAN FAM174A Membrane protein FAM174A 190 20 5 Membrane 1 0 0 1 5 2006-12-12 Q8TC12 RDH11_HUMAN RDH11 Retinol dehydrogenase 11 318 35.4 14 1.1.1.300 Endoplasmic reticulum membrane 1 1 Retinal dystrophy, juvenile cataracts, and short stature syndrome 0 1 5 2003-08-29 Q8TC27 ADA32_HUMAN ADAM32 Disintegrin and metalloproteinase domain-containing protein 32 787 87.9 8 Membrane 1 0 0 1 5 2004-12-07 Q8TCI5 CMAP3_HUMAN CIMAP3 Ciliary microtubule-associated protein 3 191 22 1 Cytoplasmic vesicle; Golgi apparatus; Cytoplasm 0 0 0 1 5 2007-04-17 Q8TDD2 SP7_HUMAN SP7 Transcription factor Sp7 431 45 12 Nucleus 0 1 Osteogenesis imperfecta 12 0 1 5 2003-05-16 Q8TDS5 OXER1_HUMAN OXER1 Oxoeicosanoid receptor 1 384 41.4 2 Membrane 7 0 0 1 5 2005-12-06 Q8TDX9 PK1L1_HUMAN PKD1L1 Polycystin-1-like protein 1 2849 315.4 7 Cell projection 11 1 Heterotaxy, visceral, 8, autosomal 0 1 5 2002-10-10 Q8TEA7 TBCK_HUMAN TBCK TBC domain-containing protein kinase-like protein 893 100.7 4 Cytoplasm; Midbody; Early endosome 0 1 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 1 5 2007-01-23 Q8TF01 PNISR_HUMAN PNISR Arginine/serine-rich protein PNISR 805 92.6 6 Nucleus speckle 0 0 0 1 5 2005-07-05 Q8TF47 ZFP90_HUMAN ZFP90 Zinc finger protein 90 homolog 636 73 16 Nucleus 0 0 0 1 5 2003-11-28 Q8TF50 ZN526_HUMAN ZNF526 Zinc finger protein 526 670 73.6 19 Nucleus 0 1 Dentici-Novelli neurodevelopmental syndrome 0 1 5 2007-10-02 Q8WTW3 COG1_HUMAN COG1 Conserved oligomeric Golgi complex subunit 1 980 109 17 Golgi apparatus membrane 0 1 Congenital disorder of glycosylation 2G 0 1 5 2002-08-30 Q8WU58 F222B_HUMAN FAM222B Protein FAM222B 562 59.7 17 0 0 0 1 5 2007-02-06 Q8WU67 ABHD3_HUMAN ABHD3 Phospholipase ABHD3 409 46 18 3.1.1.32, 3.1.1.4 Membrane 1 0 0 1 5 2007-03-20 Q8WUU8 TM174_HUMAN TMEM174 Transmembrane protein 174 243 26.3 5 Endoplasmic reticulum membrane; Apical cell membrane 2 0 0 1 5 2007-04-03 Q8WVN6 SCTM1_HUMAN SECTM1 Secreted and transmembrane protein 1 248 27 17 Cell membrane; Secreted 1 0 0 1 5 2002-11-08 Q8WWB3 DYDC1_HUMAN DYDC1 DPY30 domain-containing protein 1 177 20.9 10 Cytoplasm 0 0 0 1 5 2006-07-25 Q8WWF3 SSMM1_HUMAN SSMEM1 Serine-rich single-pass membrane protein 1 244 28.2 7 Membrane 1 0 0 1 5 2007-01-09 Q8WWM7 ATX2L_HUMAN ATXN2L Ataxin-2-like protein 1075 113.4 16 Membrane; Cytoplasm; Nucleus speckle; Cytoplasmic granule 0 0 0 1 5 2004-09-13 Q8WWV6 FCAMR_HUMAN FCAMR High affinity immunoglobulin alpha and immunoglobulin mu Fc receptor 532 57.1 1 Cell membrane 1 0 0 1 5 2008-04-29 Q8WWZ7 ABCA5_HUMAN ABCA5 Cholesterol transporter ABCA5 1642 186.5 17 7.6.2.- Golgi apparatus membrane; Lysosome membrane; Late endosome membrane; Cell membrane 15 0 0 1 5 2006-10-03 Q8WWZ8 OIT3_HUMAN OIT3 Oncoprotein-induced transcript 3 protein 545 60 10 Nucleus envelope 0 0 0 1 5 2007-08-21 Q8WXA9 SREK1_HUMAN SREK1 Splicing regulatory glutamine/lysine-rich protein 1 508 59.4 5 Nucleus 0 0 0 1 5 2003-10-03 Q8WXD2 SCG3_HUMAN SCG3 Secretogranin-3 468 53 15 Cytoplasmic vesicle; Secreted 0 0 0 1 5 2002-09-19 Q8WXG6 MADD_HUMAN MADD MAP kinase-activating death domain protein 1647 183.3 11 Cell membrane; Cytoplasm; Cell projection 0 2 DEEAH syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 0 1 5 2007-02-20 Q8WXR4 MYO3B_HUMAN MYO3B Myosin-IIIb 1341 151.8 2 2.7.11.1 Cytoplasm; Cell projection 0 0 0 1 5 2004-04-26 Q8WXS3 BAALC_HUMAN BAALC Brain and acute leukemia cytoplasmic protein 145 15.6 8 Cytoplasm; Synapse; Membrane raft; Postsynaptic density 0 0 0 1 5 2006-09-05 Q8WYA0 IFT81_HUMAN IFT81 Intraflagellar transport protein 81 homolog 676 79.7 12 Cell projection; Cytoplasm 0 1 Short-rib thoracic dysplasia 19 with or without polydactyly 0 1 5 2004-03-29 Q8WYL5 SSH1_HUMAN SSH1 Protein phosphatase Slingshot homolog 1 1049 115.5 12 3.1.3.16, 3.1.3.48 Cytoplasm; Cell projection; Cleavage furrow; Midbody 0 0 0 1 5 2005-11-22 Q8WYP3 RIN2_HUMAN RIN2 Ras and Rab interactor 2 895 100.2 20 Cytoplasm 0 1 MACS syndrome 0 1 5 2003-02-01 Q8WZ60 KLHL6_HUMAN KLHL6 Kelch-like protein 6 621 70.4 3 Cytoplasm 0 0 0 1 5 2003-02-12 Q8WZ82 OVCA2_HUMAN OVCA2 Esterase OVCA2 227 24.4 17 3.1.1.1 0 0 0 1 5 2007-09-11 Q92186 SIA8B_HUMAN ST8SIA2 Alpha-2,8-sialyltransferase 8B 375 42.4 15 2.4.3.- Golgi apparatus membrane; Secreted; Cell membrane 1 0 0 1 5 1997-11-01 Q92485 ASM3B_HUMAN SMPDL3B Acid sphingomyelinase-like phosphodiesterase 3b 455 50.8 1 3.1.4.- Secreted; Cell membrane 0 0 0 1 5 2001-08-29 Q92537 SUSD6_HUMAN SUSD6 Sushi domain-containing protein 6 303 32.1 14 Membrane 1 0 0 1 5 1997-11-01 Q92551 IP6K1_HUMAN IP6K1 Inositol hexakisphosphate kinase 1 441 50.2 3 2.7.4.21 Cytoplasm; Nucleus 0 0 0 1 5 2004-07-19 Q92614 MY18A_HUMAN MYO18A Unconventional myosin-XVIIIa 2054 233.1 17 Golgi apparatus; Golgi outpost; Cytoplasm 0 0 0 1 5 2003-07-25 Q92637 FCGRB_HUMAN FCGR1BP Putative high affinity immunoglobulin gamma Fc receptor IB 280 32.2 1 Cell membrane 1 0 0 5 5 2008-04-29 Q92698 RAD54_HUMAN RAD54L DNA repair and recombination protein RAD54-like 747 84.4 1 3.6.4.- Nucleus 0 0 0 1 5 2004-08-16 Q92733 PRCC_HUMAN PRCC Proline-rich protein PRCC 491 52.4 1 Nucleus 0 0 0 1 5 1997-11-01 Q92737 RSLAA_HUMAN RASL10A Ras-like protein family member 10A 203 22.5 22 3.6.5.2 Cell membrane; Nucleus 0 0 0 1 5 1998-07-15 Q92766 RREB1_HUMAN RREB1 Ras-responsive element-binding protein 1 1687 181.4 6 Nucleus speckle 0 0 0 1 5 1998-07-15 Q92777 SYN2_HUMAN SYN2 Synapsin-2 582 63 3 Synapse 0 1 Schizophrenia 0 1 5 2000-05-30 Q92782 DPF1_HUMAN DPF1 Zinc finger protein neuro-d4 387 44.1 19 Cytoplasm; Nucleus 0 0 0 1 5 1997-11-01 Q92791 SC65_HUMAN P3H4 Endoplasmic reticulum protein SC65 437 50.4 17 Endoplasmic reticulum 0 0 0 1 5 1998-07-15 Q92813 IOD2_HUMAN DIO2 Type II iodothyronine deiodinase 273 30.6 14 1.21.99.4 Endoplasmic reticulum membrane 1 0 0 1 5 1997-11-01 Q92819 HYAS2_HUMAN HAS2 Hyaluronan synthase 2 552 63.6 8 2.4.1.212 Cell membrane; Endoplasmic reticulum membrane; Vesicle; Golgi apparatus membrane; Lysosome 7 0 0 1 5 2000-05-30 Q92839 HYAS1_HUMAN HAS1 Hyaluronan synthase 1 577 64.7 19 2.4.1.212 Membrane 7 0 0 1 5 2000-05-30 Q92870 APBB2_HUMAN APBB2 Amyloid beta precursor protein binding family B member 2 758 83.4 4 Endoplasmic reticulum; Golgi apparatus; Early endosome 0 0 0 1 5 2001-01-11 Q92874 DNSL2_HUMAN DNASE1L2 Deoxyribonuclease-1-like 2 299 32.9 16 3.1.21.- Cytoplasm; Secreted 0 0 0 1 5 1997-11-01 Q92886 NGN1_HUMAN NEUROG1 Neurogenin-1 237 25.7 5 Nucleus 0 1 Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay 0 1 5 1998-12-15 Q92915 FGF14_HUMAN FGF14 Fibroblast growth factor 14 247 27.7 13 Nucleus 0 2 Spinocerebellar ataxia 27A; Spinocerebellar ataxia 27B, late-onset 0 1 5 1997-11-01 Q92925 SMRD2_HUMAN SMARCD2 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 531 58.9 17 Nucleus 0 1 Specific granule deficiency 2 0 1 5 2005-01-04 Q92935 EXTL1_HUMAN EXTL1 Exostosin-like 1 676 74.7 1 2.4.1.224 Endoplasmic reticulum membrane 1 0 0 1 5 1998-07-15 Q92949 FOXJ1_HUMAN FOXJ1 Forkhead box protein J1 421 45.2 17 Nucleus 0 2 Allergic rhinitis; Ciliary dyskinesia, primary, 43 0 1 5 1997-11-01 Q92994 TF3B_HUMAN BRF1 Transcription factor IIIB 90 kDa subunit 677 73.8 14 Nucleus 0 1 Cerebellofaciodental syndrome 0 1 5 2002-05-02 Q93070 NAR4_HUMAN ART4 Ecto-ADP-ribosyltransferase 4 314 35.9 12 2.4.2.31 Cell membrane 0 0 0 1 5 1997-11-01 Q93084 AT2A3_HUMAN ATP2A3 Sarcoplasmic/endoplasmic reticulum calcium ATPase 3 999 109.3 17 7.2.2.10 Nucleus membrane; Endoplasmic reticulum membrane; Sarcoplasmic reticulum membrane 10 0 0 1 5 1997-11-01 Q969E8 TSR2_HUMAN TSR2 Pre-rRNA-processing protein TSR2 homolog 191 20.9 X 0 1 Diamond-Blackfan anemia 14, with mandibulofacial dysostosis 0 1 5 2007-05-01 Q969F0 FATE1_HUMAN FATE1 Fetal and adult testis-expressed transcript protein 183 20.7 X Mitochondrion; Mitochondrion outer membrane; Endoplasmic reticulum membrane 1 0 0 1 5 2003-09-26 Q969F2 NKD2_HUMAN NKD2 Protein naked cuticle homolog 2 451 50.1 5 Cell membrane; Cytoplasm; Cytoplasmic vesicle 0 0 0 1 5 2007-09-11 Q969G9 NKD1_HUMAN NKD1 Protein naked cuticle homolog 1 470 52.3 16 Cell membrane; Cytoplasm 0 0 0 1 5 2007-09-11 Q969I6 S38A4_HUMAN SLC38A4 Sodium-coupled neutral amino acid transporter 4 547 60.8 12 Cell membrane; Cell projection 10 0 0 1 5 2006-07-25 Q969N4 TAAR8_HUMAN TAAR8 Trace amine-associated receptor 8 342 38 6 Cell membrane 7 0 0 1 5 2003-10-10 Q969Q5 RAB24_HUMAN RAB24 Ras-related protein Rab-24 203 23.1 5 3.6.5.2 Cytoplasm; Membrane; Cytoplasmic vesicle 0 0 0 1 5 2002-09-19 Q969Q6 P2R3C_HUMAN PPP2R3C Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma 453 53.3 14 Nucleus; Cytoplasm 0 2 Myoectodermal gonadal dysgenesis syndrome; Spermatogenic failure 36 0 1 5 2007-02-20 Q969T9 WBP2_HUMAN WBP2 WW domain-binding protein 2 261 28.1 17 Cytoplasm; Nucleus 0 1 Deafness, autosomal recessive, 107 0 1 5 2002-11-15 Q969W1 ZDH16_HUMAN ZDHHC16 Palmitoyltransferase ZDHHC16 377 43.6 10 2.3.1.225 Endoplasmic reticulum membrane 4 0 0 1 5 2003-10-24 Q969W9 PMEPA_HUMAN PMEPA1 Protein TMEPAI 287 31.6 20 Early endosome membrane; Golgi apparatus membrane 1 0 0 1 5 2002-03-05 Q969Z3 MARC2_HUMAN MTARC2 Mitochondrial amidoxime reducing component 2 335 38 1 1.7.-.- Mitochondrion outer membrane; Peroxisome 0 0 0 1 5 2007-01-23 Q96A37 RN166_HUMAN RNF166 E3 ubiquitin-protein ligase RNF166 237 26.1 16 2.3.2.27 Cytoplasm 0 0 0 1 5 2006-07-11 Q96A56 T53I1_HUMAN TP53INP1 Tumor protein p53-inducible nuclear protein 1 240 27.4 8 Cytoplasm; Nucleus; Cytoplasmic vesicle 0 0 0 1 5 2005-03-15 Q96A61 TRI52_HUMAN TRIM52 E3 ubiquitin-protein ligase TRIM52 297 34.7 5 2.3.2.27 Cytoplasm; Nucleus 0 0 0 1 5 2004-05-24 Q96A70 AZIN2_HUMAN AZIN2 Antizyme inhibitor 2 460 50 1 Nucleus; Cytoplasm; Membrane; Cytoplasmic vesicle; Endoplasmic reticulum-Golgi intermediate compartment; Golgi apparatus; Cytoplasmic granule; Cell projection; Perikaryon 0 0 0 1 5 2002-11-01 Q96AG4 LRC59_HUMAN LRRC59 Leucine-rich repeat-containing protein 59 307 34.9 17 Microsome membrane; Endoplasmic reticulum membrane; Nucleus envelope 1 0 0 1 5 2006-05-16 Q96AH0 SOSB2_HUMAN NABP1 SOSS complex subunit B2 204 22.4 2 Nucleus 0 0 0 1 5 2008-05-20 Q96B18 DACT3_HUMAN DACT3 Dapper homolog 3 629 64.9 19 0 0 0 1 5 2006-12-12 Q96B23 ARK2N_HUMAN ARK2N Protein ARK2N 404 43.4 18 Nucleus 0 0 0 1 5 2005-07-19 Q96BA8 CR3L1_HUMAN CREB3L1 Cyclic AMP-responsive element-binding protein 3-like protein 1 519 57 11 Endoplasmic reticulum membrane 1 1 Osteogenesis imperfecta 16 0 1 5 2007-05-29 Q96BS2 CHP3_HUMAN TESC Calcineurin B homologous protein 3 214 24.8 12 Nucleus; Cytoplasm; Membrane; Cell membrane; Cell projection 0 0 0 1 5 2002-05-02 Q96BW9 TAM41_HUMAN TAMM41 Phosphatidate cytidylyltransferase, mitochondrial 452 51.1 3 2.7.7.41 Mitochondrion inner membrane 0 1 Combined oxidative phosphorylation deficiency 56 0 1 5 2006-09-05 Q96BY7 ATG2B_HUMAN ATG2B Autophagy-related protein 2 homolog B 2078 232.8 14 Preautophagosomal structure membrane; Lipid droplet; Endoplasmic reticulum membrane 0 0 0 1 5 2003-09-26 Q96C01 TIMCC_HUMAN TIMCC TIM double twin CX3C motif protein 138 15.6 2 Mitochondrion intermembrane space 0 0 0 1 5 2007-07-24 Q96CM4 NXNL1_HUMAN NXNL1 Nucleoredoxin-like protein 1 212 23.9 19 Cytoplasm; Mitochondrion 0 0 0 1 5 2008-02-26 Q96CQ1 S2536_HUMAN SLC25A36 Solute carrier family 25 member 36 311 34.3 3 Mitochondrion inner membrane 6 1 Hyperinsulinemic hypoglycemia, familial, 8 0 1 5 2007-06-26 Q96CU9 FXRD1_HUMAN FOXRED1 FAD-dependent oxidoreductase domain-containing protein 1 486 53.8 11 1.-.-.- Mitochondrion inner membrane 1 1 Mitochondrial complex I deficiency, nuclear type 19 0 1 5 2007-01-23 Q96D03 DDT4L_HUMAN DDIT4L DNA damage-inducible transcript 4-like protein 193 21.7 4 Cytoplasm 0 0 0 1 5 2007-10-23 Q96DB2 HDA11_HUMAN HDAC11 Histone deacetylase 11 347 39.2 3 3.5.1.98 Nucleus 0 0 0 1 5 2002-12-06 Q96DB5 RMD1_HUMAN RMDN1 Regulator of microtubule dynamics protein 1 314 35.8 8 Cytoplasm 0 0 0 1 5 2005-08-16 Q96DN5 TBC31_HUMAN TBC1D31 TBC1 domain family member 31 1066 124.2 8 Cytoplasm 0 0 0 1 5 2005-11-22 Q96DP5 FMT_HUMAN MTFMT Methionyl-tRNA formyltransferase, mitochondrial 389 43.8 15 2.1.2.9 Mitochondrion 0 2 Combined oxidative phosphorylation deficiency 15; Mitochondrial complex I deficiency, nuclear type 27 0 1 5 2003-01-27 Q96DR5 BPIA2_HUMAN BPIFA2 BPI fold-containing family A member 2 249 27 20 Secreted 0 0 0 1 5 2003-08-29 Q96DT5 DYH11_HUMAN DNAH11 Dynein axonemal heavy chain 11 4516 520.4 7 Cytoplasm 0 1 Ciliary dyskinesia, primary, 7 0 1 5 2002-09-19 Q96E35 ZMY19_HUMAN ZMYND19 Zinc finger MYND domain-containing protein 19 227 26.4 9 Cytoplasm; Cell membrane 0 0 0 1 5 2004-04-13 Q96EH8 NEUL3_HUMAN NEURL3 E3 ubiquitin-protein ligase NEURL3 262 28.8 2 2.3.2.27 Cytoplasm 0 0 0 1 5 2008-03-18 Q96EW2 HBAP1_HUMAN HSPBAP1 HSPB1-associated protein 1 488 55.2 3 Cytoplasm 0 0 0 1 5 2007-04-17 Q96FM1 PGAP3_HUMAN PGAP3 GPI-specific phospholipase A2-like PGAP3 320 36.5 17 3.1.1.- Golgi apparatus membrane 7 1 Hyperphosphatasia with impaired intellectual development syndrome 4 0 1 5 2008-06-10 Q96FN5 KIF12_HUMAN KIF12 Kinesin-like protein KIF12 651 71.1 9 Cytoplasm; Cell projection 0 1 Cholestasis, progressive familial intrahepatic, 8 0 1 5 2003-07-11 Q96G01 BICD1_HUMAN BICD1 Protein bicaudal D homolog 1 975 110.8 12 Golgi apparatus 0 0 0 1 5 2003-08-15 Q96G28 CFA36_HUMAN CFAP36 Cilia- and flagella-associated protein 36 342 39.4 2 Nucleus; Cytoplasm; Cell projection 0 0 0 1 5 2007-02-20 Q96GC9 VMP1_HUMAN VMP1 Vacuole membrane protein 1 406 46.2 17 Endoplasmic reticulum-Golgi intermediate compartment membrane; Cell membrane; Vacuole membrane; Endoplasmic reticulum membrane 7 0 0 1 5 2007-04-17 Q96GL9 F163A_HUMAN FAM163A Protein FAM163A 167 17.6 1 Membrane 1 0 0 1 5 2007-03-20 Q96GM1 PLPR2_HUMAN PLPPR2 Phospholipid phosphatase-related protein type 2 343 36.9 19 Membrane 6 0 0 1 5 2008-02-05 Q96GQ7 DDX27_HUMAN DDX27 Probable ATP-dependent RNA helicase DDX27 765 86.6 20 3.6.4.13 Nucleus; Chromosome 0 0 0 1 5 2003-03-28 Q96GS4 BORC6_HUMAN BORCS6 BLOC-1-related complex subunit 6 357 37.2 17 Lysosome membrane 0 0 0 1 5 2007-05-15 Q96GS6 AB17A_HUMAN ABHD17A Alpha/beta hydrolase domain-containing protein 17A 310 34 19 3.1.2.22 Cell membrane; Endosome membrane; Cell projection; Postsynaptic density membrane 0 0 0 1 5 2007-07-24 Q96GX8 CLMB_HUMAN CLMB Calcimembrin 76 8.1 16 Cell membrane; Membrane 0 0 0 1 5 2006-12-12 Q96GZ6 S41A3_HUMAN SLC41A3 Solute carrier family 41 member 3 507 54.8 3 Mitochondrion inner membrane 10 0 0 1 5 2007-07-24 Q96HD9 ACY3_HUMAN ACY3 N-acyl-aromatic-L-amino acid amidohydrolase (carboxylate-forming) 319 35.2 11 3.5.1.114 Apical cell membrane; Cytoplasm 0 0 0 1 5 2003-08-29 Q96HE8 TMM80_HUMAN TMEM80 Transmembrane protein 80 143 15.7 11 Membrane; Cell projection 4 0 0 1 5 2007-05-15 Q96HT8 MR1L1_HUMAN MRFAP1L1 MORF4 family-associated protein 1-like 1 127 14.8 4 0 0 0 1 5 2008-02-26 Q96I23 PREY_HUMAN PYURF Protein preY, mitochondrial 114 12.7 4 Mitochondrion 0 0 0 1 5 2006-07-25 Q96I76 GPTC3_HUMAN GPATCH3 G patch domain-containing protein 3 525 59.3 1 Nucleus; Cytoplasm 0 0 0 1 5 2005-01-04 Q96II8 LRCH3_HUMAN LRCH3 DISP complex protein LRCH3 777 86.1 3 Cytoplasm 0 0 0 1 5 2006-10-17 Q96IU2 ZBED3_HUMAN ZBED3 Zinc finger BED domain-containing protein 3 234 25.1 5 Cytoplasm; Membrane; Secreted 0 0 0 1 5 2003-09-19 Q96IV6 FXDC2_HUMAN FAXDC2 Fatty acid hydroxylase domain-containing protein 2 333 39 5 Cytoplasm; Membrane 6 0 0 1 5 2006-09-19 Q96IW7 SC22A_HUMAN SEC22A Vesicle-trafficking protein SEC22a 307 34.9 3 Endoplasmic reticulum membrane 4 0 0 1 5 2006-10-17 Q96IZ7 RSRC1_HUMAN RSRC1 Serine/Arginine-related protein 53 334 38.7 3 Nucleus; Nucleus speckle; Cytoplasm 0 1 Intellectual developmental disorder, autosomal recessive 70 0 1 5 2005-03-15 Q96JB1 DYH8_HUMAN DNAH8 Dynein axonemal heavy chain 8 4490 514.7 6 Cytoplasm 0 1 Spermatogenic failure 46 0 1 5 2007-01-23 Q96JB2 COG3_HUMAN COG3 Conserved oligomeric Golgi complex subunit 3 828 94.1 13 Golgi apparatus 0 1 Congenital disorder of glycosylation 2BB 0 1 5 2002-08-30 Q96JB6 LOXL4_HUMAN LOXL4 Lysyl oxidase homolog 4 756 84.5 10 1.4.3.13 Secreted 0 0 0 1 5 2002-04-16 Q96JG9 ZN469_HUMAN ZNF469 Zinc finger protein 469 3953 413.3 16 Nucleus 0 1 Brittle cornea syndrome 1 0 1 5 2003-10-24 Q96K58 ZN668_HUMAN ZNF668 Zinc finger protein 668 619 67.9 16 Nucleus 0 1 Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies 0 1 5 2006-10-03 Q96KA5 CLP1L_HUMAN CLPTM1L Lipid scramblase CLPTM1L 538 62.2 5 Endoplasmic reticulum membrane 6 0 0 1 5 2008-04-29 Q96KP1 EXOC2_HUMAN EXOC2 Exocyst complex component 2 924 104.1 6 Midbody 0 1 Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia 0 1 5 2002-11-01 Q96KP6 TNIP3_HUMAN TNIP3 TNFAIP3-interacting protein 3 325 38.9 4 0 0 0 1 5 2005-07-19 Q96KV7 WDR90_HUMAN WDR90 WD repeat-containing protein 90 1748 187.4 16 Cytoplasm 0 0 0 1 5 2008-06-10 Q96LB3 IFT74_HUMAN IFT74 Intraflagellar transport protein 74 homolog 600 69.2 9 Cell projection; Cytoplasmic vesicle 0 3 Bardet-Biedl syndrome 22; Joubert syndrome 40; Spermatogenic failure 58 0 1 5 2004-07-19 Q96M11 HYLS1_HUMAN HYLS1 Centriolar and ciliogenesis-associated protein HYLS1 299 34.4 11 Cytoplasm; Cell projection 0 1 Hydrolethalus syndrome 1 0 1 5 2007-05-01 Q96M27 PRRC1_HUMAN PRRC1 Protein PRRC1 445 46.7 5 Golgi apparatus; Cytoplasm 0 0 0 1 5 2007-10-23 Q96MH2 HEXI2_HUMAN HEXIM2 Protein HEXIM2 286 32.4 17 Nucleus 0 0 0 1 5 2007-10-02 Q96MI9 CBPC4_HUMAN AGBL1 Cytosolic carboxypeptidase 4 1112 125.3 15 3.4.17.-, 3.4.17.24 Cytoplasm 0 1 Corneal dystrophy, Fuchs endothelial, 8 0 1 5 2007-10-02 Q96N16 JKIP1_HUMAN JAKMIP1 Janus kinase and microtubule-interacting protein 1 626 73.2 4 Cytoplasm; Membrane 0 0 0 1 5 2008-03-18 Q96N19 G137A_HUMAN GPR137 Integral membrane protein GPR137 417 46.1 11 Lysosome membrane 7 0 0 1 5 2007-01-09 Q96N23 CFA54_HUMAN CFAP54 Cilia- and flagella-associated protein 54 3096 352 12 Cytoplasm 0 2 Spermatogenic failure 98; Ciliary dyskinesia, primary, 54 0 1 5 2008-03-18 Q96N58 ZN578_HUMAN ZNF578 Zinc finger protein 578 590 68.5 19 Nucleus 0 0 0 1 5 2004-09-27 Q96N77 ZN641_HUMAN ZNF641 Zinc finger protein 641 438 49.5 12 Nucleus 0 0 0 1 5 2007-05-01 Q96NB3 ZN830_HUMAN ZNF830 Zinc finger protein 830 372 42 17 Nucleus; Chromosome; Nucleus speckle 0 0 0 1 5 2005-12-06 Q96NR3 PTHD1_HUMAN PTCHD1 Patched domain-containing protein 1 888 101.3 X Cell membrane; Cell projection 11 1 Autism, X-linked 4 0 1 5 2007-03-06 Q96NT0 VMA22_HUMAN VMA22 Vacuolar ATPase assembly protein VMA22 180 19.8 2 Endosome; Lysosome; Endoplasmic reticulum-Golgi intermediate compartment; Cytoplasmic vesicle; Endoplasmic reticulum 0 1 Congenital disorder of glycosylation 2O 0 1 5 2007-03-06 Q96NT5 PCFT_HUMAN SLC46A1 Proton-coupled folate transporter 459 49.8 17 Cell membrane; Apical cell membrane; Basolateral cell membrane; Endosome membrane; Cytoplasm 12 1 Hereditary folate malabsorption 0 1 5 2005-11-08 Q96NU1 SAM11_HUMAN SAMD11 Sterile alpha motif domain-containing protein 11 681 72.7 1 Nucleus 0 1 Retinitis pigmentosa 0 1 5 2007-03-06 Q96NY7 CLIC6_HUMAN CLIC6 Chloride intracellular channel protein 6 704 73 21 Cytoplasm; Cell membrane 1 0 0 1 5 2002-10-19 Q96P44 COLA1_HUMAN COL21A1 Collagen alpha-1(XXI) chain 957 99.4 6 Secreted; Cytoplasm 0 0 0 1 5 2008-02-05 Q96P63 SPB12_HUMAN SERPINB12 Serpin B12 405 46.3 18 Cytoplasm 0 0 0 1 5 2002-01-23 Q96PB1 CASD1_HUMAN CASD1 N-acetylneuraminate (7)9-O-acetyltransferase 797 91.7 7 2.3.1.45 Golgi apparatus membrane 15 0 0 1 5 2007-10-23 Q96PD7 DGAT2_HUMAN DGAT2 Diacylglycerol O-acyltransferase 2 388 43.8 11 2.3.1.20 Endoplasmic reticulum membrane; Lipid droplet; Cytoplasm 2 0 0 1 5 2006-09-05 Q96PF1 TGM7_HUMAN TGM7 Protein-glutamine gamma-glutamyltransferase Z 710 79.9 15 0 0 0 1 5 2002-05-10 Q96PH6 DB118_HUMAN DEFB118 Defensin beta 118 123 13.6 20 Secreted 0 0 0 1 5 2002-10-10 Q96PQ6 ZN317_HUMAN ZNF317 Zinc finger protein 317 595 68 19 Nucleus 0 0 0 1 5 2002-03-27 Q96PV0 SYGP1_HUMAN SYNGAP1 Ras/Rap GTPase-activating protein SynGAP 1343 148.3 6 0 1 Intellectual developmental disorder, autosomal dominant 5 0 1 5 2003-08-15 Q96PV4 PNMA5_HUMAN PNMA5 Paraneoplastic antigen-like protein 5 448 49.9 X Nucleus 0 0 0 1 5 2007-11-13 Q96PX9 PKH4B_HUMAN PLEKHG4B Pleckstrin homology domain-containing family G member 4B 1627 178.4 5 Basal cell membrane; Cell junction; Nucleus; Cytoplasm 0 0 0 1 5 2008-02-05 Q96Q06 PLIN4_HUMAN PLIN4 Perilipin-4 1371 135.9 19 Cell membrane; Cytoplasm; Lipid droplet 0 1 Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant 0 1 5 2007-08-21 Q96Q35 FACC1_HUMAN FLACC1 Flagellum-associated coiled-coil domain-containing protein 1 445 52.4 2 Cytoplasm; Cytoplasmic granule; Cell projection 0 0 0 1 5 2002-10-19 Q96Q42 ALS2_HUMAN ALS2 Alsin 1657 183.6 2 0 3 Amyotrophic lateral sclerosis 2; Juvenile primary lateral sclerosis; Infantile-onset ascending spastic paralysis 0 1 5 2003-05-09 Q96QA5 GSDMA_HUMAN GSDMA Gasdermin-A 445 49.4 17 Cytoplasm 4 0 0 1 5 2005-07-19 Q96QS6 PSKH2_HUMAN PSKH2 Serine/threonine-protein kinase H2 385 43 8 2.7.11.1 0 0 0 1 5 2005-12-06 Q96QU8 XPO6_HUMAN XPO6 Exportin-6 1125 128.9 16 Nucleus; Cytoplasm 0 0 0 1 5 2006-05-16 Q96RI8 TAAR6_HUMAN TAAR6 Trace amine-associated receptor 6 345 38.5 6 Cell membrane 7 0 0 2 5 2003-11-07 Q96RI9 TAAR9_HUMAN TAAR9 Trace amine-associated receptor 9 348 39 6 Cell membrane 7 0 0 1 5 2003-11-07 Q96RL6 SIG11_HUMAN SIGLEC11 Sialic acid-binding Ig-like lectin 11 698 75.8 19 Membrane 1 0 0 1 5 2002-11-08 Q96RQ1 ERGI2_HUMAN ERGIC2 Endoplasmic reticulum-Golgi intermediate compartment protein 2 377 42.5 12 Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus; Endoplasmic reticulum membrane; Cytoplasm; Nucleus 2 0 0 1 5 2006-06-13 Q96RU7 TRIB3_HUMAN TRIB3 Tribbles homolog 3 358 39.6 20 Nucleus 0 0 0 1 5 2003-02-01 Q96S06 LMF1_HUMAN LMF1 Lipase maturation factor 1 567 64.9 16 Endoplasmic reticulum membrane 5 1 Combined lipase deficiency 0 1 5 2007-02-06 Q96S65 CSRN1_HUMAN CSRNP1 Cysteine/serine-rich nuclear protein 1 589 63.5 3 Nucleus 0 0 0 1 5 2002-10-25 Q96S97 MYADM_HUMAN MYADM Myeloid-associated differentiation marker 322 35.3 19 Membrane 8 0 0 1 5 2002-05-27 Q96SQ7 ATOH8_HUMAN ATOH8 Transcription factor ATOH8 321 34.6 2 Nucleus; Nucleus speckle; Cytoplasm 0 0 0 1 5 2008-03-18 Q96T49 PP16B_HUMAN PPP1R16B Protein phosphatase 1 regulatory inhibitor subunit 16B 567 63.6 20 Cell membrane; Nucleus; Cell projection 0 0 0 1 5 2002-08-13 Q96T54 KCNKH_HUMAN KCNK17 Potassium channel subfamily K member 17 332 36.9 6 Cell membrane 4 0 0 1 5 2002-11-01 Q99102 MUC4_HUMAN MUC4 Mucin-4 5412 542.3 3 Cell membrane 1 0 0 1 5 1994-06-01 Q99519 NEUR1_HUMAN NEU1 Sialidase-1 415 45.5 6 3.2.1.18 Lysosome lumen; Lysosome membrane; Cell membrane 0 1 Sialidosis 0 1 5 2001-11-16 Q99542 MMP19_HUMAN MMP19 Matrix metalloproteinase-19 508 57.4 12 3.4.24.- Secreted 0 1 Cavitary optic disc anomalies 0 1 5 2001-01-24 Q99550 MPP9_HUMAN MPHOSPH9 M-phase phosphoprotein 9 1183 133 12 Cytoplasm; Golgi apparatus membrane 0 0 0 1 5 2000-05-30 Q99583 MNT_HUMAN MNT Max-binding protein MNT 582 62.3 17 Nucleus 0 0 0 1 5 1998-12-15 Q99607 ELF4_HUMAN ELF4 ETS-related transcription factor Elf-4 663 70.7 X Nucleus 0 1 Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 0 1 5 2005-06-21 Q99611 SPS2_HUMAN SEPHS2 Selenide, water dikinase 2 448 47.3 16 2.7.9.3 Cytoplasm 0 0 0 1 5 1999-07-15 Q99612 KLF6_HUMAN KLF6 Krueppel-like factor 6 283 31.9 10 Nucleus 0 2 Gastric cancer; Prostate cancer 0 1 5 2000-05-30 Q99715 COCA1_HUMAN COL12A1 Collagen alpha-1(XII) chain 3063 333.1 6 Secreted 0 2 Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 0 1 5 1998-07-15 Q99797 MIPEP_HUMAN MIPEP Mitochondrial intermediate peptidase 713 80.6 13 3.4.24.59 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 31 0 1 5 1999-07-15 Q99929 ASCL2_HUMAN ASCL2 Achaete-scute homolog 2 193 20.2 11 Nucleus 0 0 0 1 5 1997-11-01 Q99973 TEP1_HUMAN TEP1 Telomerase protein component 1 2627 290.5 14 Nucleus; Chromosome 0 0 0 1 5 2004-05-24 Q99985 SEM3C_HUMAN SEMA3C Semaphorin-3C 751 85.2 7 Secreted 0 0 0 1 5 2000-05-30 Q99996 AKAP9_HUMAN AKAP9 A-kinase anchor protein 9 3907 453 7 Golgi apparatus; Cytoplasm 0 1 Long QT syndrome 11 0 1 5 2001-06-01 Q99999 G3ST1_HUMAN GAL3ST1 Galactosylceramide sulfotransferase 423 48.8 22 2.8.2.11 Golgi apparatus membrane 1 0 0 1 5 2002-07-26 Q9BPY8 HOP_HUMAN HOPX Homeodomain-only protein 73 8.3 4 Nucleus; Cytoplasm 0 0 0 1 5 2005-02-01 Q9BQ31 KCNS3_HUMAN KCNS3 Delayed-rectifier potassium channel regulatory subunit KCNS3 491 56 2 Cell membrane 6 0 0 1 5 2002-10-25 Q9BQ70 TCF25_HUMAN TCF25 Ribosome quality control complex subunit TCF25 676 76.7 16 Nucleus; Cytoplasm 0 0 0 1 5 2002-09-19 Q9BQ87 TBL1Y_HUMAN TBL1Y F-box-like/WD repeat-containing protein TBL1Y 522 56.7 Y Nucleus 0 1 Deafness, Y-linked 2 0 1 5 2002-09-19 Q9BQ89 F110A_HUMAN FAM110A Protein FAM110A 295 31.3 20 Cytoplasm 0 0 0 1 5 2002-12-06 Q9BQD3 KXDL1_HUMAN KXD1 KxDL motif-containing protein 1 176 19.7 19 Lysosome membrane 0 0 0 1 5 2007-07-24 Q9BQG0 MBB1A_HUMAN MYBBP1A Myb-binding protein 1A 1328 148.9 17 Cytoplasm; Nucleus 0 0 0 1 5 2005-07-19 Q9BQK8 LPIN3_HUMAN LPIN3 Phosphatidate phosphatase LPIN3 851 93.6 20 3.1.3.4 Nucleus 0 0 0 1 5 2002-10-10 Q9BQN1 SCK1C_HUMAN SACK1C Scaffolding CK1 anchoring protein C 747 81.1 20 Cytoplasm 0 0 0 1 5 2003-07-19 Q9BQY4 RHXF2_HUMAN RHOXF2 Rhox homeobox family member 2 288 31.7 X Nucleus 0 0 0 1 5 2003-10-03 Q9BRC7 PLCD4_HUMAN PLCD4 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 762 87.6 2 3.1.4.11 Cell membrane; Nucleus; Cytoplasm; Endoplasmic reticulum 0 0 0 1 5 2007-10-02 Q9BRN9 TM2D3_HUMAN TM2D3 TM2 domain-containing protein 3 247 27.1 15 Cell membrane; Cytoplasmic vesicle; Endoplasmic reticulum; Membrane 2 1 Neurocardiorenal malformation syndrome 0 1 5 2007-08-21 Q9BRP8 PYM1_HUMAN PYM1 Partner of Y14 and mago 204 22.7 12 Cytoplasm; Nucleus 0 0 0 1 5 2007-05-15 Q9BRR0 ZKSC3_HUMAN ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 538 60.6 6 Nucleus; Cytoplasm 0 0 0 1 5 2002-09-19 Q9BRR6 ADPGK_HUMAN ADPGK ADP-dependent glucokinase 497 54.1 15 2.7.1.147 Secreted 0 0 0 1 5 2005-04-26 Q9BSU1 PHAF1_HUMAN PHAF1 Phagosome assembly factor 1 422 47.5 16 Cytoplasm; Preautophagosomal structure 0 0 0 1 5 2002-01-23 Q9BSU3 NAA11_HUMAN NAA11 N-alpha-acetyltransferase 11 229 26 4 2.3.1.255 Cytoplasm; Nucleus 0 0 0 1 5 2007-10-02 Q9BT88 SYT11_HUMAN SYT11 Synaptotagmin-11 431 48.3 1 Cytoplasmic vesicle membrane; Perikaryon; Golgi apparatus; Recycling endosome membrane; Lysosome membrane; Cytoplasmic vesicle; Cell projection; Postsynaptic density 1 0 0 1 5 2001-10-18 Q9BTK6 PAGR1_HUMAN PAGR1 PAXIP1-associated glutamate-rich protein 1 254 27.7 16 Nucleus 0 0 0 1 5 2006-09-05 Q9BTV4 TMM43_HUMAN TMEM43 Transmembrane protein 43 400 44.9 3 Endoplasmic reticulum membrane; Nucleus inner membrane; Cell membrane 4 3 Arrhythmogenic right ventricular dysplasia, familial, 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3 0 1 5 2007-04-17 Q9BU76 MMTA2_HUMAN MMTAG2 Multiple myeloma tumor-associated protein 2 263 29.4 1 0 0 0 1 5 2005-08-16 Q9BU79 TM243_HUMAN TMEM243 Transmembrane protein 243 118 13.4 7 Membrane 3 0 0 1 5 2003-11-07 Q9BUV8 RCAF1_HUMAN RAB5IF GEL complex subunit OPTI 137 15.5 20 Endoplasmic reticulum membrane; Mitochondrion inner membrane 3 1 Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 2 0 1 5 2002-10-19 Q9BV10 ALG12_HUMAN ALG12 Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase 488 54.7 22 2.4.1.260 Endoplasmic reticulum membrane 12 1 Congenital disorder of glycosylation 1G 0 1 5 2004-03-15 Q9BV94 EDEM2_HUMAN EDEM2 ER degradation-enhancing alpha-mannosidase-like protein 2 578 64.8 20 Endoplasmic reticulum lumen 0 0 0 1 5 2001-11-16 Q9BVA0 KTNB1_HUMAN KATNB1 Katanin p80 WD40 repeat-containing subunit B1 655 72.3 16 Cytoplasm 0 1 Lissencephaly 6, with microcephaly 0 1 5 2005-03-01 Q9BVC5 ASHWN_HUMAN C2orf49 tRNA-splicing ligase complex subunit ASW 232 25.9 2 Nucleus 0 0 0 1 5 2006-12-12 Q9BVV6 TALD3_HUMAN KIAA0586 Protein TALPID3 1533 169.3 14 Cytoplasm; Photoreceptor inner segment 0 2 Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 0 1 5 2002-01-23 Q9BW71 HIRP3_HUMAN HIRIP3 HIRA-interacting protein 3 556 62 16 Nucleus 0 0 0 1 5 2002-06-20 Q9BW83 IFT27_HUMAN IFT27 Intraflagellar transport protein 27 homolog 186 20.5 22 Cell projection; Cytoplasm 0 1 Bardet-Biedl syndrome 19 0 1 5 2002-04-16 Q9BWT7 CAR10_HUMAN CARD10 Caspase recruitment domain-containing protein 10 1032 115.9 22 Cytoplasm 0 1 Immunodeficiency 89 and autoimmunity 0 1 5 2002-01-31 Q9BWU1 CDK19_HUMAN CDK19 Cyclin-dependent kinase 19 502 56.8 6 2.7.11.22 Cytoplasm; Nucleus 0 1 Developmental and epileptic encephalopathy 87 0 1 5 2005-02-01 Q9BWW4 SSBP3_HUMAN SSBP3 Single-stranded DNA-binding protein 3 388 40.4 1 Nucleus 0 0 0 1 5 2003-01-10 Q9BX46 RBM24_HUMAN RBM24 RNA-binding protein 24 236 24.8 6 Nucleus; Cytoplasm 0 0 0 1 5 2007-01-23 Q9BX67 JAM3_HUMAN JAM3 Junctional adhesion molecule C 310 35 11 Cell membrane; Cell junction 1 1 Hemorrhagic destruction of the brain with subependymal calcification and cataracts 0 1 5 2004-08-31 Q9BX95 SGPP1_HUMAN SGPP1 Sphingosine-1-phosphate phosphatase 1 441 49.1 14 3.1.3.- Endoplasmic reticulum membrane; Cell membrane 9 0 0 1 5 2003-10-10 Q9BXA6 TSSK6_HUMAN TSSK6 Testis-specific serine/threonine-protein kinase 6 273 30.3 19 2.7.11.1 Cytoplasm; Nucleus 0 0 0 1 5 2006-03-21 Q9BXA7 TSSK1_HUMAN TSSK1B Testis-specific serine/threonine-protein kinase 1 367 41.6 5 2.7.11.1 Cytoplasm; Cytoplasmic vesicle; Cell projection 0 0 0 1 5 2003-04-30 Q9BXB5 OSB10_HUMAN OSBPL10 Oxysterol-binding protein-related protein 10 764 84 3 Cytoplasm; Late endosome membrane; Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane 0 0 0 1 5 2002-02-11 Q9BXB7 SPT16_HUMAN SPATA16 Spermatogenesis-associated protein 16 569 65.3 3 Golgi apparatus; Cytoplasmic vesicle 0 1 Spermatogenic failure 6 0 1 5 2008-01-15 Q9BXK5 B2L13_HUMAN BCL2L13 Bcl-2-like protein 13 485 52.7 22 Mitochondrion membrane; Nucleus 1 0 0 1 5 2002-09-19 Q9BXN2 CLC7A_HUMAN CLEC7A C-type lectin domain family 7 member A 247 27.6 12 Cell membrane 1 1 Candidiasis, familial, 4 0 1 5 2006-12-12 Q9BXR3 POK6_HUMAN ERVK-6 Endogenous retrovirus group K member 6 Pol protein 956 107.7 0 0 0 2 5 2004-09-13 Q9BXR6 FHR5_HUMAN CFHR5 Complement factor H-related protein 5 569 64.4 1 Secreted 0 1 CFHR5 deficiency 0 1 5 2002-09-19 Q9BXU1 STK31_HUMAN STK31 Serine/threonine-protein kinase 31 1019 115.7 7 2.7.11.1 0 0 0 1 5 2001-11-16 Q9BXU7 UBP26_HUMAN USP26 Ubiquitin carboxyl-terminal hydrolase 26 913 104 X 3.4.19.12 Nucleus; Cytoplasm 0 1 Spermatogenic failure, X-linked, 6 0 1 5 2001-09-26 Q9BXY8 BEX2_HUMAN BEX2 Protein BEX2 128 15.3 X Cytoplasm; Nucleus 0 0 0 1 5 2006-04-04 Q9BYE0 HES7_HUMAN HES7 Transcription factor HES-7 225 24.9 17 Nucleus 0 1 Spondylocostal dysostosis 4, autosomal recessive 0 1 5 2006-10-17 Q9BYG5 PAR6B_HUMAN PARD6B Partitioning defective 6 homolog beta 372 41.2 20 Cytoplasm; Cell membrane; Cell junction 0 0 0 1 5 2003-05-16 Q9BYK8 HELZ2_HUMAN HELZ2 3'-5' exoribonuclease HELZ2 2896 322.3 20 3.1.13.1 Cytoplasm 0 0 0 1 5 2003-04-30 Q9BYQ0 KRA98_HUMAN KRTAP9-8 Keratin-associated protein 9-8 159 16.7 17 0 0 0 1 5 2003-11-14 Q9BYQ2 KRA94_HUMAN KRTAP9-4 Keratin-associated protein 9-4 154 16.4 17 0 0 0 1 5 2003-11-14 Q9BYQ6 KR411_HUMAN KRTAP4-11 Keratin-associated protein 4-11 195 20.9 17 0 0 0 1 5 2003-10-31 Q9BYR0 KRA47_HUMAN KRTAP4-7 Keratin-associated protein 4-7 155 16.7 17 0 0 0 1 5 2003-10-31 Q9BYS1 KRA15_HUMAN KRTAP1-5 Keratin-associated protein 1-5 174 18 17 0 0 0 1 5 2004-10-25 Q9BYU1 PBX4_HUMAN PBX4 Pre-B-cell leukemia transcription factor 4 374 40.9 19 Nucleus 0 0 0 1 5 2003-10-24 Q9BYV1 AGT2_HUMAN AGXT2 Alanine--glyoxylate aminotransferase 2, mitochondrial 514 57.2 5 2.6.1.44 Mitochondrion 0 0 0 1 5 2001-12-05 Q9BYW1 GTR11_HUMAN SLC2A11 Solute carrier family 2, facilitated glucose transporter member 11 496 53.7 22 Cell membrane 12 0 0 1 5 2001-11-16 Q9BZA8 PC11Y_HUMAN PCDH11Y Protocadherin-11 Y-linked 1340 146.8 Y Cell membrane 1 0 0 1 5 2006-04-18 Q9BZD2 S29A3_HUMAN SLC29A3 Equilibrative nucleoside transporter 3 475 51.8 10 Lysosome membrane; Late endosome membrane; Mitochondrion membrane; Cell membrane 11 1 Histiocytosis-lymphadenopathy plus syndrome 0 1 5 2004-05-24 Q9BZJ4 S2539_HUMAN SLC25A39 Mitochondrial glutathione transporter SLC25A39 359 39.2 17 Mitochondrion inner membrane 6 0 0 1 5 2002-02-11 Q9BZJ7 GPR62_HUMAN GPR62 G protein-coupled receptor 62 368 37.6 3 Cell membrane; Endosome membrane 7 0 0 1 5 2002-05-27 Q9BZM2 PA2GF_HUMAN PLA2G2F Group IIF secretory phospholipase A2 168 18.7 1 3.1.1.4 Secreted; Cell membrane 0 0 0 1 5 2002-02-11 Q9BZM3 GSX2_HUMAN GSX2 GS homeobox 2 304 32 4 Nucleus; Cytoplasm 0 1 Diencephalic-mesencephalic junction dysplasia syndrome 2 0 1 5 2002-01-23 Q9BZM6 ULBP1_HUMAN ULBP1 UL16-binding protein 1 244 28 6 Cell membrane; Endoplasmic reticulum 0 0 0 1 5 2004-05-24 Q9BZV3 IMPG2_HUMAN IMPG2 Interphotoreceptor matrix proteoglycan 2 1241 138.6 3 Photoreceptor outer segment membrane; Photoreceptor inner segment membrane; Secreted 1 2 Retinitis pigmentosa 56; Macular dystrophy, vitelliform, 5 0 1 5 2008-02-26 Q9C056 NKX62_HUMAN NKX6-2 Homeobox protein Nkx-6.2 277 29.3 10 Nucleus 0 1 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 0 1 5 2007-09-11 Q9C0A1 ZFHX2_HUMAN ZFHX2 Zinc finger homeobox protein 2 2572 274.2 14 Nucleus 0 1 Marsili syndrome 0 1 5 2003-02-12 Q9C0D2 CE295_HUMAN CEP295 Centrosomal protein of 295 kDa 2601 295.2 11 Cytoplasm 0 1 Seckel syndrome 11 0 1 5 2008-03-18 Q9C0I4 THS7B_HUMAN THSD7B Thrombospondin type-1 domain-containing protein 7B 1606 179.2 2 Membrane 1 0 0 1 5 2006-11-28 Q9C0J1 B3GN4_HUMAN B3GNT4 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 378 42.3 12 2.4.1.149 Golgi apparatus membrane 1 0 0 1 5 2007-05-29 Q9C0J9 BHE41_HUMAN BHLHE41 Class E basic helix-loop-helix protein 41 482 50.5 12 Nucleus 0 0 0 1 5 2002-03-05 Q9C0K0 BC11B_HUMAN BCL11B B-cell lymphoma/leukemia 11B 894 95.5 14 Nucleus 0 2 Immunodeficiency 49, severe combined; Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities 0 1 5 2004-03-01 Q9GZP0 PDGFD_HUMAN PDGFD Platelet-derived growth factor D 370 42.8 11 Secreted 0 0 0 1 5 2006-09-19 Q9GZR7 DDX24_HUMAN DDX24 ATP-dependent RNA helicase DDX24 859 96.3 14 3.6.4.13 Cytoplasm; Nucleus 0 0 0 1 5 2001-09-26 Q9GZT5 WN10A_HUMAN WNT10A Protein Wnt-10a 417 46.4 2 Secreted 0 3 Odonto-onycho-dermal dysplasia; Schopf-Schulz-Passarge syndrome; Tooth agenesis, selective, 4 0 1 5 2001-06-20 Q9GZZ6 ACH10_HUMAN CHRNA10 Neuronal acetylcholine receptor subunit alpha-10 450 49.7 11 Synaptic cell membrane; Cell membrane 4 0 0 1 5 2001-07-11 Q9GZZ7 GFRA4_HUMAN GFRA4 GDNF family receptor alpha-4 299 31.7 20 Cell membrane 0 0 0 1 5 2003-04-23 Q9H013 ADA19_HUMAN ADAM19 Disintegrin and metalloproteinase domain-containing protein 19 955 105 5 3.4.24.- Membrane 1 0 0 1 5 2002-01-31 Q9H019 MFR1L_HUMAN MTFR1L Mitochondrial fission regulator 1-like 292 32 1 Mitochondrion outer membrane 0 0 0 1 5 2008-06-10 Q9H093 NUAK2_HUMAN NUAK2 NUAK family SNF1-like kinase 2 628 69.6 1 2.7.11.1 0 1 Anencephaly 2 0 1 5 2006-07-25 Q9H0B3 IQCN_HUMAN IQCN IQ domain-containing protein N 1180 127.7 19 0 1 Spermatogenic failure 78 0 1 5 2005-08-30 Q9H0B8 CRLD2_HUMAN CRISPLD2 Cysteine-rich secretory protein LCCL domain-containing 2 497 55.9 16 Secreted 0 0 0 1 5 2006-09-05 Q9H0C8 ILKAP_HUMAN ILKAP Integrin-linked kinase-associated serine/threonine phosphatase 2C 392 42.9 2 3.1.3.16 Cytoplasm 0 0 0 1 5 2007-01-23 Q9H0D6 XRN2_HUMAN XRN2 5'-3' exoribonuclease 2 950 108.6 20 3.1.13.- Nucleus 0 0 0 1 5 2003-04-23 Q9H0G5 NSRP1_HUMAN NSRP1 Nuclear speckle splicing regulatory protein 1 558 66.4 17 Nucleus; Nucleus speckle 0 1 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities 0 1 5 2006-06-27 Q9H0N0 RAB6C_HUMAN RAB6C Ras-related protein Rab-6C 254 28.4 2 3.6.5.2 Nucleus; Cytoplasm 0 0 0 1 5 2003-01-10 Q9H0R6 GATA_HUMAN QRSL1 Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial 528 57.5 6 3.5.1.2 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 40 0 1 5 2008-02-05 Q9H0T7 RAB17_HUMAN RAB17 Ras-related protein Rab-17 212 23.5 2 3.6.5.2 Recycling endosome membrane; Melanosome; Cell projection 0 0 0 1 5 2001-09-26 Q9H1H9 KI13A_HUMAN KIF13A Kinesin-like protein KIF13A 1805 202.3 6 Cytoplasm; Midbody; Endosome membrane; Golgi apparatus membrane 0 0 0 1 5 2002-09-19 Q9H1Y3 OPN3_HUMAN OPN3 Opsin-3 402 44.9 1 Cell membrane; Cytoplasm 7 0 0 1 5 2001-09-26 Q9H2A9 CHST8_HUMAN CHST8 Carbohydrate sulfotransferase 8 424 48.8 19 2.8.2.- Golgi apparatus membrane 1 0 0 1 5 2005-03-15 Q9H2D1 S2532_HUMAN SLC25A32 Solute carrier family 25 member 32 315 35.4 8 Mitochondrion inner membrane 6 2 Exercise intolerance, riboflavin-responsive; Neural tube defects 0 1 5 2002-02-11 Q9H2L5 RASF4_HUMAN RASSF4 Ras association domain-containing protein 4 321 36.7 10 0 0 0 1 5 2006-06-27 Q9H2R5 KLK15_HUMAN KLK15 Kallikrein-15 256 28.1 19 3.4.21.- Secreted 0 0 0 1 5 2001-10-18 Q9H307 PININ_HUMAN PNN Pinin 717 81.6 14 Nucleus speckle; Cell junction 0 0 0 1 5 2005-08-30 Q9H3R1 NDST4_HUMAN NDST4 N-heparan sulfate sulfotransferase 4 872 100.7 4 2.8.2.8 Golgi apparatus membrane 1 0 0 1 5 2006-03-07 Q9H3R2 MUC13_HUMAN MUC13 Mucin-13 512 54.6 3 Cell membrane; Apical cell membrane; Secreted 1 0 0 1 5 2004-07-19 Q9H3T2 SEM6C_HUMAN SEMA6C Semaphorin-6C 930 99.7 1 Cell membrane 1 0 0 1 5 2001-04-27 Q9H3U7 SMOC2_HUMAN SMOC2 SPARC-related modular calcium-binding protein 2 446 49.7 6 Secreted 0 1 Dentin dysplasia 1A 0 1 5 2003-10-31 Q9H400 LIME1_HUMAN LIME1 Lck-interacting transmembrane adapter 1 295 31.3 20 Cell membrane 1 0 0 1 5 2005-12-20 Q9H467 CUED2_HUMAN CUEDC2 CUE domain-containing protein 2 287 32 10 Cytoplasm; Nucleus 0 0 0 1 5 2007-04-03 Q9H4A5 GLP3L_HUMAN GOLPH3L Golgi phosphoprotein 3-like 285 32.8 1 Golgi apparatus 0 0 0 1 5 2008-03-18 Q9H4E7 DEFI6_HUMAN DEF6 Differentially expressed in FDCP 6 homolog 631 73.9 6 Cytoplasm; Cell membrane; Nucleus; Cell projection 0 1 Immunodeficiency 87 and autoimmunity 0 1 5 2007-07-10 Q9H4F1 SIA7D_HUMAN ST6GALNAC4 Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase 302 34.2 9 2.4.3.7 Golgi apparatus membrane 1 0 0 1 5 2002-07-11 Q9H511 KLH31_HUMAN KLHL31 Kelch-like protein 31 634 70.2 6 0 0 0 1 5 2007-01-09 Q9H596 DUS21_HUMAN DUSP21 Dual specificity protein phosphatase 21 190 21.5 X 3.1.3.16, 3.1.3.48 Cytoplasm; Nucleus; Mitochondrion inner membrane 0 0 0 1 5 2004-07-19 Q9H5Y7 SLIK6_HUMAN SLITRK6 SLIT and NTRK-like protein 6 841 95.1 13 Cell membrane 1 1 Deafness and myopia 0 1 5 2004-04-13 Q9H6H4 REEP4_HUMAN REEP4 Receptor expression-enhancing protein 4 257 29.4 8 Endoplasmic reticulum membrane 2 0 0 1 5 2005-12-20 Q9H6R3 ACSS3_HUMAN ACSS3 Acyl-CoA synthetase short-chain family member 3, mitochondrial 686 74.8 12 6.2.1.1 Mitochondrion matrix 0 0 0 1 5 2008-02-26 Q9H6R6 ZDHC6_HUMAN ZDHHC6 Palmitoyltransferase ZDHHC6 413 47.7 10 2.3.1.225 Endoplasmic reticulum membrane 4 0 0 1 5 2003-02-01 Q9H6Z9 EGLN3_HUMAN EGLN3 Prolyl hydroxylase EGLN3 239 27.3 14 1.14.11.- Nucleus; Cytoplasm 0 0 0 1 5 2003-06-16 Q9H7F0 AT133_HUMAN ATP13A3 Polyamine-transporting ATPase 13A3 1226 138 3 Recycling endosome membrane; Early endosome membrane; Late endosome membrane 10 1 Pulmonary hypertension, primary, 5 0 1 5 2001-10-18 Q9H8E8 CSR2B_HUMAN KAT14 Cysteine-rich protein 2-binding protein 782 88.8 20 Nucleus; Cytoplasm 0 0 0 1 5 2002-11-01 Q9H8L6 MMRN2_HUMAN MMRN2 Multimerin-2 949 104.4 10 Secreted 0 0 0 1 5 2003-10-03 Q9H8M9 EVA1A_HUMAN EVA1A Protein eva-1 homolog A 152 17.5 2 Endoplasmic reticulum membrane; Lysosome membrane 1 0 0 1 5 2007-02-20 Q9H8N7 ZN395_HUMAN ZNF395 Zinc finger protein 395 513 54.9 8 Cytoplasm; Nucleus 0 0 0 1 5 2005-09-13 Q9H8X2 IPPK_HUMAN IPPK Inositol-pentakisphosphate 2-kinase 491 56 9 2.7.1.158 Cytoplasm; Nucleus 0 0 0 1 5 2005-12-06 Q9H9V4 RN122_HUMAN RNF122 RING finger protein 122 155 17.5 8 Golgi apparatus; Endoplasmic reticulum; Membrane 1 0 0 1 5 2006-07-25 Q9HA77 SYCM_HUMAN CARS2 Probable cysteine--tRNA ligase, mitochondrial 564 62.2 13 6.1.1.16 Mitochondrion 0 1 Combined oxidative phosphorylation deficiency 27 0 1 5 2006-10-03 Q9HAK2 COE2_HUMAN EBF2 Transcription factor COE2 575 62.7 8 Nucleus 0 0 0 1 5 2002-11-28 Q9HAS0 NJMU_HUMAN C17orf75 Protein Njmu-R1 396 44.6 17 Golgi apparatus; Cytoplasmic vesicle 0 0 0 1 5 2001-05-04 Q9HAT2 SIAE_HUMAN SIAE Sialate O-acetylesterase 523 58.3 11 3.1.1.53 Lysosome 0 1 Autoimmune disease 6 0 1 5 2005-10-11 Q9HAU8 RNPL1_HUMAN RNPEPL1 Aminopeptidase RNPEPL1 725 80 2 3.4.11.- 0 0 0 1 5 2002-07-11 Q9HAW8 UD110_HUMAN UGT1A10 UDP-glucuronosyltransferase 1A10 530 59.8 2 2.4.1.17 Endoplasmic reticulum membrane 1 0 0 1 5 2003-04-11 Q9HB03 ELOV3_HUMAN ELOVL3 Very long chain fatty acid elongase 3 270 31.5 10 2.3.1.199 Endoplasmic reticulum membrane 7 0 0 1 5 2002-01-23 Q9HB65 ELL3_HUMAN ELL3 RNA polymerase II elongation factor ELL3 397 45.4 15 Nucleus 0 0 0 1 5 2004-06-07 Q9HBH0 RHOF_HUMAN RHOF Rho-related GTP-binding protein RhoF 211 23.6 12 3.6.5.2 Cell membrane; Cytoplasm 0 0 0 1 5 2001-04-27 Q9HBI0 PARVG_HUMAN PARVG Gamma-parvin 331 37.5 22 Cell junction; Cell membrane; Cytoplasm 0 0 0 1 5 2002-01-23 Q9HBM0 VEZA_HUMAN VEZT Vezatin 779 88.7 12 Cell membrane; Cell projection; Cell junction; Nucleus; Cytoplasmic vesicle 2 0 0 1 5 2002-03-27 Q9HBT6 CAD20_HUMAN CDH20 Cadherin-20 801 89 18 Cell membrane 1 0 0 1 5 2001-10-24 Q9HBV2 SACA1_HUMAN SPACA1 Sperm acrosome membrane-associated protein 1 294 32.1 6 Cytoplasmic vesicle 1 1 Spermatogenic failure 85 0 1 5 2006-09-05 Q9HBY8 SGK2_HUMAN SGK2 Serine/threonine-protein kinase Sgk2 367 41.2 20 2.7.11.1 Cytoplasm; Nucleus 0 0 0 1 5 2003-02-22 Q9HC29 NOD2_HUMAN NOD2 Nucleotide-binding oligomerization domain-containing protein 2 1040 115.3 16 Cell membrane; Basolateral cell membrane; Cytoplasm; Mitochondrion 0 3 Blau syndrome; Inflammatory bowel disease 1; Yao syndrome 0 1 5 2002-01-31 Q9HC98 NEK6_HUMAN NEK6 Serine/threonine-protein kinase Nek6 313 35.7 9 2.7.11.34 Cytoplasm; Nucleus; Nucleus speckle 0 0 0 1 5 2003-10-03 Q9HCC8 GDE3_HUMAN GDPD2 Glycerophosphodiester phosphodiesterase 3 539 61.7 X 3.1.4.- Cell membrane 6 0 0 1 5 2006-10-03 Q9HCI5 MAGE1_HUMAN MAGEE1 Melanoma-associated antigen E1 957 103.3 X Cytoplasm; Nucleus; Cell membrane 0 0 0 1 5 2004-07-19 Q9HCQ7 NPVF_HUMAN NPVF Pro-FMRFamide-related neuropeptide VF 196 22.3 7 Secreted 0 0 0 1 5 2002-10-10 Q9HDD0 PLAT1_HUMAN PLAAT1 Phospholipase A and acyltransferase 1 168 18.8 3 2.3.1.-, 3.1.1.32, 3.1.1.4 Membrane; Cytoplasm 1 0 0 1 5 2002-01-31 Q9NP66 HM20A_HUMAN HMG20A High mobility group protein 20A 347 40.1 15 Nucleus 0 0 0 1 5 2006-05-30 Q9NP86 CABP5_HUMAN CABP5 Calcium-binding protein 5 173 19.8 19 Cytoplasm 0 0 0 1 5 2001-04-27 Q9NPA1 KCMB3_HUMAN KCNMB3 Calcium-activated potassium channel subunit beta-3 279 31.6 3 Membrane 2 0 0 1 5 2004-04-13 Q9NPB0 SAYS1_HUMAN SAYSD1 SAYSvFN domain-containing protein 1 183 20.2 6 Endoplasmic reticulum membrane; Cytoplasmic vesicle membrane 0 0 0 1 5 2005-07-05 Q9NPC4 A4GAT_HUMAN A4GALT Lactosylceramide 4-alpha-galactosyltransferase 353 40.5 22 2.4.1.228 Golgi apparatus membrane 1 0 0 1 5 2002-11-25 Q9NPH2 INO1_HUMAN ISYNA1 Inositol-3-phosphate synthase 1 558 61.1 19 5.5.1.4 Cytoplasm 0 0 0 1 5 2008-03-18 Q9NPH9 IL26_HUMAN IL26 Interleukin-26 171 19.8 12 Secreted 0 0 0 1 5 2001-11-16 Q9NQ34 TMM9B_HUMAN TMEM9B Transmembrane protein 9B 198 22.5 11 Lysosome membrane; Early endosome membrane 1 0 0 1 5 2002-05-10 Q9NQ76 MEPE_HUMAN MEPE Matrix extracellular phosphoglycoprotein 525 58.4 4 Secreted 0 0 0 1 5 2003-07-19 Q9NQ92 COPRS_HUMAN COPRS Coordinator of PRMT5 and differentiation stimulator 184 20.1 17 Nucleus 0 0 0 1 5 2008-05-20 Q9NQC8 IFT46_HUMAN IFT46 Intraflagellar transport protein 46 homolog 304 34.3 11 Cytoplasm; Cell projection 0 0 0 1 5 2006-01-24 Q9NQG1 MANBL_HUMAN MANBAL Protein MANBAL 85 9.5 20 Membrane 1 0 0 1 5 2003-04-30 Q9NQQ7 S35H1_HUMAN SLC35H1 Solute carrier family 35 member H1 365 40.4 20 Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane 8 0 0 1 5 2004-01-16 Q9NQR4 NIT2_HUMAN NIT2 Omega-amidase NIT2 276 30.6 3 3.5.1.3 Cytoplasm 0 0 0 1 5 2008-02-26 Q9NQW5 PRDM7_HUMAN PRDM7 Histone-lysine N-methyltransferase PRDM7 492 55.8 16 2.1.1.- Nucleus; Chromosome 0 0 0 1 5 2001-11-16 Q9NQZ3 DAZ1_HUMAN DAZ1 Deleted in azoospermia protein 1 744 82.8 Y Cytoplasm; Nucleus 0 1 Spermatogenic failure Y-linked 2 0 1 5 2004-03-01 Q9NR19 ACSA_HUMAN ACSS2 Acetyl-coenzyme A synthetase, cytoplasmic 701 78.6 20 6.2.1.1 Cytoplasm; Nucleus 0 0 0 1 5 2002-04-03 Q9NR55 BATF3_HUMAN BATF3 Basic leucine zipper transcriptional factor ATF-like 3 127 14.5 1 Nucleus 0 0 0 1 5 2008-03-18 Q9NRC1 ST7_HUMAN ST7 Suppressor of tumorigenicity 7 protein 585 67.2 7 Membrane 3 0 0 1 5 2008-06-10 Q9NRC6 SPTN5_HUMAN SPTBN5 Spectrin beta chain, non-erythrocytic 5 3674 416.8 15 Cytoplasm 0 0 0 1 5 2001-11-16 Q9NRD8 DUOX2_HUMAN DUOX2 Dual oxidase 2 1548 175.4 15 1.-.-.-, 1.11.1.-, 1.6.3.1 Apical cell membrane; Cell junction 7 1 Thyroid dyshormonogenesis 6 0 1 5 2006-02-21 Q9NRE1 MMP26_HUMAN MMP26 Matrix metalloproteinase-26 261 29.7 11 3.4.24.- Secreted 0 0 0 1 5 2001-04-27 Q9NRM1 ENAM_HUMAN ENAM Enamelin 1142 128.8 4 Secreted 0 2 Amelogenesis imperfecta 1B; Amelogenesis imperfecta 1C 0 1 5 2000-12-01 Q9NRR2 TRYG1_HUMAN TPSG1 Tryptase gamma 321 33.8 16 3.4.21.- Membrane 1 0 0 1 5 2001-10-18 Q9NSB2 KRT84_HUMAN KRT84 Keratin, type II cuticular Hb4 600 64.8 12 0 0 0 1 5 2004-03-29 Q9NSG2 FIRRM_HUMAN FIRRM FIGNL1-interacting regulator of recombination and mitosis 853 96.6 1 Chromosome; Nucleus; Midbody; Cytoplasm 0 0 0 1 5 2007-03-06 Q9NT22 EMIL3_HUMAN EMILIN3 EMILIN-3 766 82.6 20 Secreted 0 0 0 1 5 2003-10-03 Q9NTG1 PKDRE_HUMAN PKDREJ Polycystin family receptor for egg jelly 2253 255.4 22 Cell membrane; Cytoplasmic vesicle; Nucleus 11 0 0 1 5 2002-09-19 Q9NTI2 AT8A2_HUMAN ATP8A2 Phospholipid-transporting ATPase IB 1188 133.6 13 7.6.2.1 Membrane; Golgi apparatus membrane; Endosome membrane; Cell membrane; Photoreceptor outer segment membrane; Photoreceptor inner segment membrane 10 1 Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 0 1 5 2001-10-18 Q9NTJ4 MA2C1_HUMAN MAN2C1 Alpha-mannosidase 2C1 1040 115.8 15 3.2.1.24 Cytoplasm 0 1 Congenital disorder of deglycosylation 2 0 1 5 2003-01-27 Q9NTX5 ECHD1_HUMAN ECHDC1 Ethylmalonyl-CoA decarboxylase 307 33.7 6 4.1.1.94 Cytoplasm 0 0 0 1 5 2007-01-23 Q9NTX9 F217B_HUMAN FAM217B Protein FAM217B 383 42.1 20 0 0 0 1 5 2003-01-10 Q9NU63 ZFP57_HUMAN ZFP57 Zinc finger protein 57 homolog 452 51.9 6 Nucleus 0 1 Diabetes mellitus, transient neonatal, 1 0 1 5 2007-06-26 Q9NUL3 STAU2_HUMAN STAU2 Double-stranded RNA-binding protein Staufen homolog 2 570 62.6 8 Cytoplasm; Nucleus; Endoplasmic reticulum 0 0 0 1 5 2005-08-30 Q9NUU7 DD19A_HUMAN DDX19A ATP-dependent RNA helicase DDX19A 478 54 16 3.6.4.13 Cytoplasm; Nucleus 0 0 0 1 5 2005-08-30 Q9NVD3 SETD4_HUMAN SETD4 SET domain-containing protein 4 440 50.4 21 2.1.1.-, 2.1.1.364 Cytoplasm; Nucleus 0 0 0 1 5 2001-01-11 Q9NVN3 RIC8B_HUMAN RIC8B Chaperone Ric-8B 520 58.8 12 Cytoplasm 0 0 0 1 5 2006-05-16 Q9NVV0 TM38B_HUMAN TMEM38B Trimeric intracellular cation channel type B 291 32.5 9 Endoplasmic reticulum membrane 7 1 Osteogenesis imperfecta 14 0 1 5 2007-06-26 Q9NW97 TMM51_HUMAN TMEM51 Transmembrane protein 51 253 27.8 1 Membrane 2 0 0 1 5 2005-06-21 Q9NWH9 SLTM_HUMAN SLTM SAFB-like transcription modulator 1034 117.1 15 Nucleus 0 0 0 1 5 2007-10-23 Q9NWK9 BCD1_HUMAN ZNHIT6 Box C/D snoRNA protein 1 470 53.9 1 0 0 0 1 5 2007-03-20 Q9NX57 RAB20_HUMAN RAB20 Ras-related protein Rab-20 234 26.3 13 3.6.5.2 Golgi apparatus; Cytoplasmic vesicle 0 0 0 1 5 2002-01-31 Q9NX61 T161A_HUMAN TMEM161A Transmembrane protein 161A 479 53.6 19 Membrane 8 0 0 1 5 2007-05-29 Q9NX76 CKLF6_HUMAN CMTM6 CKLF-like MARVEL transmembrane domain-containing protein 6 183 20.4 3 Cell membrane; Early endosome membrane; Recycling endosome membrane 4 0 0 1 5 2003-09-19 Q9NY28 GALT8_HUMAN GALNT8 Probable polypeptide N-acetylgalactosaminyltransferase 8 637 72.9 12 2.4.1.41 Golgi apparatus membrane 1 0 0 1 5 2004-08-16 Q9NY47 CA2D2_HUMAN CACNA2D2 Voltage-dependent calcium channel subunit alpha-2/delta-2 1150 129.8 3 Membrane 1 1 Cerebellar atrophy with seizures and variable developmental delay 0 1 5 2007-09-11 Q9NY64 SL2A8_HUMAN SLC2A8 Solute carrier family 2, facilitated glucose transporter member 8 477 50.8 9 Cell membrane; Cytoplasmic vesicle membrane 12 0 0 1 5 2001-11-16 Q9NYG2 ZDHC3_HUMAN ZDHHC3 Palmitoyltransferase ZDHHC3 299 34.2 3 2.3.1.225 Golgi apparatus membrane 4 0 0 1 5 2003-02-01 Q9NYJ7 DLL3_HUMAN DLL3 Delta-like protein 3 618 64.6 19 Membrane 1 1 Spondylocostal dysostosis 1, autosomal recessive 0 1 5 2000-12-01 Q9NYQ8 FAT2_HUMAN FAT2 Protocadherin Fat 2 4349 479.3 5 Cell membrane; Cell junction; Golgi apparatus 1 1 Spinocerebellar ataxia 45 0 1 5 2002-08-02 Q9NYR9 KBRS2_HUMAN NKIRAS2 NF-kappa-B inhibitor-interacting Ras-like protein 2 191 21.5 17 Cytoplasm 0 0 0 1 5 2006-03-07 Q9NYU1 UGGG2_HUMAN UGGT2 UDP-glucose:glycoprotein glucosyltransferase 2 1516 174.7 13 2.4.1.- Endoplasmic reticulum lumen; Endoplasmic reticulum-Golgi intermediate compartment 0 0 0 1 5 2003-02-12 Q9NYW0 T2R10_HUMAN TAS2R10 Taste receptor type 2 member 10 307 35.4 12 Membrane 7 0 0 1 5 2003-04-11 Q9NYW4 TA2R5_HUMAN TAS2R5 Taste receptor type 2 member 5 299 34.5 7 Membrane 7 0 0 1 5 2003-04-11 Q9NYW5 TA2R4_HUMAN TAS2R4 Taste receptor type 2 member 4 299 33.8 7 Membrane; Cell projection 7 0 0 1 5 2003-04-11 Q9NYZ2 MFRN1_HUMAN SLC25A37 Mitoferrin-1 338 37.3 8 Mitochondrion inner membrane 6 0 0 1 5 2006-05-16 Q9NZ43 USE1_HUMAN USE1 Vesicle transport protein USE1 259 29.4 19 Endoplasmic reticulum membrane 1 0 0 1 5 2005-02-01 Q9NZB2 F120A_HUMAN FAM120A Constitutive coactivator of PPAR-gamma-like protein 1 1118 121.9 9 Cytoplasm; Cell membrane 0 0 0 1 5 2001-04-27 Q9NZI6 TF2L1_HUMAN TFCP2L1 Transcription factor CP2-like protein 1 479 54.6 2 Nucleus 0 0 0 1 5 2006-03-21 Q9NZJ6 COQ3_HUMAN COQ3 Ubiquinone biosynthesis O-methyltransferase, mitochondrial 369 41.1 6 Mitochondrion inner membrane 0 0 0 1 5 2001-11-02 Q9NZM6 PK2L2_HUMAN PKD2L2 Polycystin-2-like protein 2 624 73.8 5 Membrane 6 0 0 1 5 2002-10-10 Q9NZR2 LRP1B_HUMAN LRP1B Low-density lipoprotein receptor-related protein 1B 4599 515.5 2 Membrane 1 0 0 1 5 2004-04-26 Q9NZR4 VSX1_HUMAN VSX1 Visual system homeobox 1 365 38.4 20 Nucleus 0 2 Keratoconus 1; Craniofacial anomalies and anterior segment dysgenesis syndrome 0 1 5 2002-11-08 Q9NZS9 BFAR_HUMAN BFAR Bifunctional apoptosis regulator 450 52.7 16 2.3.2.27 Endoplasmic reticulum membrane 4 0 0 1 5 2005-12-20 Q9NZU5 LMCD1_HUMAN LMCD1 LIM and cysteine-rich domains protein 1 365 40.8 3 Cytoplasm; Nucleus 0 0 0 1 5 2002-05-15 Q9P032 NDUF4_HUMAN NDUFAF4 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4 175 20.3 6 Mitochondrion; Membrane 0 1 Mitochondrial complex I deficiency, nuclear type 15 0 1 5 2003-05-16 Q9P0B6 CC167_HUMAN CCDC167 Coiled-coil domain-containing protein 167 97 11.5 6 Membrane 1 0 0 1 5 2007-10-23 Q9P0G3 KLK14_HUMAN KLK14 Kallikrein-14 251 27.5 19 3.4.21.- Secreted 0 0 0 1 5 2001-01-11 Q9P0J1 PDP1_HUMAN PDP1 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial 537 61.1 8 3.1.3.43 Mitochondrion 0 1 Pyruvate dehydrogenase phosphatase deficiency 0 1 5 2001-01-24 Q9P0K9 FRS1L_HUMAN FRRS1L DOMON domain-containing protein FRRS1L 293 32.4 9 Cell membrane; Synapse 1 1 Developmental and epileptic encephalopathy 37 0 1 5 2006-03-21 Q9P0V9 SEP10_HUMAN SEPTIN10 Septin-10 454 52.6 2 Cytoplasm; Cell projection 0 0 0 1 5 2005-06-21 Q9P209 CEP72_HUMAN CEP72 Centrosomal protein of 72 kDa 647 71.7 5 Cytoplasm 0 0 0 1 5 2005-02-01 Q9P272 TRM9B_HUMAN TRMT9B Probable tRNA methyltransferase 9B 454 51.3 8 0 0 0 1 5 2008-04-08 Q9P283 SEM5B_HUMAN SEMA5B Semaphorin-5B 1151 125.9 3 Membrane 1 0 0 1 5 2003-10-10 Q9P2E9 RRBP1_HUMAN RRBP1 Ribosome-binding protein 1 1410 152.5 20 Endoplasmic reticulum membrane 1 0 0 1 5 2002-10-10 Q9P2F8 SI1L2_HUMAN SIPA1L2 Signal-induced proliferation-associated 1-like protein 2 1722 190.4 1 0 0 0 1 5 2004-07-19 Q9P2K1 C2D2A_HUMAN CC2D2A Coiled-coil and C2 domain-containing protein 2A 1620 186.2 4 Cytoplasm 0 4 Meckel syndrome 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 0 1 5 2008-02-05 Q9P2Q2 FRM4A_HUMAN FRMD4A FERM domain-containing protein 4A 1039 115.5 10 Cytoplasm; Cell junction 0 1 Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia 0 1 5 2001-07-11 Q9P2S2 NRX2A_HUMAN NRXN2 Neurexin-2 1712 185 11 Presynaptic cell membrane 1 0 0 1 5 2001-11-16 Q9UBC9 SPRR3_HUMAN SPRR3 Small proline-rich protein 3 169 18.2 1 Cytoplasm 0 0 0 1 5 2002-02-11 Q9UBF1 MAGC2_HUMAN MAGEC2 Melanoma-associated antigen C2 373 41.2 X Cytoplasm; Nucleus 0 0 0 1 5 2001-09-26 Q9UBG3 CRNN_HUMAN CRNN Cornulin 495 53.5 1 Cytoplasm 0 1 Esophageal cancer 0 1 5 2007-10-02 Q9UBJ2 ABCD2_HUMAN ABCD2 ATP-binding cassette sub-family D member 2 740 83.2 12 3.1.2.-, 7.6.2.- Peroxisome membrane 4 0 0 1 5 2001-01-24 Q9UBK9 UXT_HUMAN UXT Protein UXT 157 18.2 X Cytoplasm; Nucleus 0 0 0 1 5 2000-12-01 Q9UBM4 OPT_HUMAN OPTC Opticin 332 37.3 1 Secreted 0 0 0 1 5 2000-12-01 Q9UBR5 CKLF_HUMAN CKLF Chemokine-like factor 152 17.2 16 Secreted 3 0 0 1 5 2003-08-15 Q9UBS9 SUCO_HUMAN SUCO SUN domain-containing ossification factor 1254 139.4 1 Rough endoplasmic reticulum membrane 1 0 0 1 5 2007-09-11 Q9UBV4 WNT16_HUMAN WNT16 Protein Wnt-16 365 40.7 7 Secreted 0 0 0 1 5 2000-12-01 Q9UBX3 DIC_HUMAN SLC25A10 Mitochondrial dicarboxylate carrier 287 31.3 17 Mitochondrion inner membrane 6 1 Mitochondrial DNA depletion syndrome 19 0 1 5 2002-02-11 Q9UBY5 LPAR3_HUMAN LPAR3 Lysophosphatidic acid receptor 3 353 40.1 1 Cell membrane 7 0 0 1 5 2002-12-06 Q9UDV6 ZN212_HUMAN ZNF212 Zinc finger protein 212 495 55.4 7 Nucleus 0 0 0 1 5 2000-12-01 Q9UEE9 CFDP1_HUMAN CFDP1 Heterochromatin-stabilizing protein CFDP1 299 33.6 16 Chromosome; Nucleus 0 0 0 1 5 2005-11-22 Q9UFW8 CGBP1_HUMAN CGGBP1 CGG triplet repeat-binding protein 1 167 18.8 3 Nucleus 0 0 0 1 5 2006-10-17 Q9UGI6 KCNN3_HUMAN KCNN3 Small conductance calcium-activated potassium channel protein 3 731 81.4 1 Cell membrane; Cytoplasm 6 1 Zimmermann-Laband syndrome 3 0 1 5 2001-11-16 Q9UGP8 SEC63_HUMAN SEC63 Translocation protein SEC63 homolog 760 88 6 Endoplasmic reticulum membrane 3 1 Polycystic liver disease 2 with or without kidney cysts 0 1 5 2001-10-18 Q9UHC3 ASIC3_HUMAN ASIC3 Acid-sensing ion channel 3 531 58.9 7 Cell membrane; Cytoplasm 2 0 0 1 5 2005-09-13 Q9UHC7 MKRN1_HUMAN MKRN1 E3 ubiquitin-protein ligase makorin-1 482 53.3 7 2.3.2.27 0 0 0 1 5 2001-11-16 Q9UI38 TSP50_HUMAN PRSS50 Probable threonine protease PRSS50 385 43.1 3 3.4.25.- Endoplasmic reticulum 0 0 0 1 5 2003-09-26 Q9UIG8 SO3A1_HUMAN SLCO3A1 Solute carrier organic anion transporter family member 3A1 710 76.6 15 Basolateral cell membrane 12 0 0 1 5 2003-01-10 Q9UIK5 TEFF2_HUMAN TMEFF2 Tomoregulin-2 374 41.4 2 Membrane 1 0 0 1 5 2005-07-19 Q9UIU6 SIX4_HUMAN SIX4 Homeobox protein SIX4 781 82.9 14 Nucleus; Cytoplasm 0 0 0 1 5 2001-01-11 Q9UIV8 SPB13_HUMAN SERPINB13 Serpin B13 391 44.3 18 Cytoplasm 0 0 0 1 5 2000-12-01 Q9UIX4 KCNG1_HUMAN KCNG1 Voltage-gated potassium channel regulatory subunit KCNG1 513 57.9 20 Cell membrane 6 0 0 1 5 2002-10-25 Q9UJ98 STAG3_HUMAN STAG3 Cohesin subunit SA-3 1225 139 7 Nucleus; Chromosome 0 2 Premature ovarian failure 8; Spermatogenic failure 61 0 1 5 2003-03-25 Q9UJQ1 LAMP5_HUMAN LAMP5 Lysosome-associated membrane glycoprotein 5 280 31.5 20 Cell membrane; Cytoplasmic vesicle; Endoplasmic reticulum-Golgi intermediate compartment membrane; Endosome membrane; Cytoplasmic vesicle membrane; Cell projection; Early endosome membrane; Recycling endosome 1 0 0 1 5 2002-12-06 Q9UJU5 FOXD3_HUMAN FOXD3 Forkhead box protein D3 478 47.6 1 Nucleus 0 1 Autoimmune disease 1 0 1 5 2000-05-30 Q9UK96 FBX10_HUMAN FBXO10 F-box only protein 10 956 105.2 9 Cytoplasm 0 0 0 1 5 2001-02-21 Q9UK97 FBX9_HUMAN FBXO9 F-box only protein 9 447 52.3 6 Cytoplasm 0 0 0 1 5 2001-02-21 Q9UKB5 AJAP1_HUMAN AJAP1 Adherens junction-associated protein 1 411 44.5 1 Basolateral cell membrane; Apical cell membrane; Cell junction 1 0 0 1 5 2007-04-17 Q9UKD1 GMEB2_HUMAN GMEB2 Glucocorticoid modulatory element-binding protein 2 530 56.4 20 Nucleus; Cytoplasm 0 0 0 1 5 2002-07-26 Q9UKI2 BORG2_HUMAN CDC42EP3 Cdc42 effector protein 3 254 27.7 2 Endomembrane system; Cytoplasm 0 0 0 1 5 2005-07-19 Q9UKT9 IKZF3_HUMAN IKZF3 Zinc finger protein Aiolos 509 58 17 Nucleus; Cytoplasm 0 1 Immunodeficiency 84 0 1 5 2002-09-19 Q9UKZ9 PCOC2_HUMAN PCOLCE2 Procollagen C-endopeptidase enhancer 2 415 45.7 3 Secreted 0 0 0 1 5 2005-05-10 Q9UL45 BL1S6_HUMAN BLOC1S6 Biogenesis of lysosome-related organelles complex 1 subunit 6 172 19.7 15 Cytoplasm; Membrane 0 1 Hermansky-Pudlak syndrome 9 0 1 5 2004-01-16 Q9UL54 TAOK2_HUMAN TAOK2 Serine/threonine-protein kinase TAO2 1235 138.3 16 2.7.11.1 Cytoplasmic vesicle membrane; Cytoplasm; Nucleus 5 0 0 1 5 2005-10-25 Q9UL68 MYT1L_HUMAN MYT1L Myelin transcription factor 1-like protein 1186 133 2 Nucleus; Chromosome 0 1 Intellectual developmental disorder, autosomal dominant 39 0 1 5 2005-09-27 Q9ULB4 CADH9_HUMAN CDH9 Cadherin-9 789 88.7 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9ULC8 ZDHC8_HUMAN ZDHHC8 Palmitoyltransferase ZDHHC8 765 81.4 22 2.3.1.225 Golgi apparatus membrane; Mitochondrion membrane 4 0 0 1 5 2003-02-01 Q9ULD0 OGDHL_HUMAN OGDHL 2-oxoglutarate dehydrogenase-like, mitochondrial 1010 114.5 10 1.2.4.2 Mitochondrion matrix 0 1 Yoon-Bellen neurodevelopmental syndrome 0 1 5 2007-11-13 Q9ULD2 MTUS1_HUMAN MTUS1 Microtubule-associated tumor suppressor 1 1270 141.4 8 Mitochondrion; Golgi apparatus; Cell membrane; Nucleus 0 1 Hepatocellular carcinoma 0 1 5 2007-10-02 Q9ULL5 PRR12_HUMAN PRR12 Proline-rich protein 12 2036 211 19 Nucleus; Postsynaptic density; Synapse 0 1 Neuroocular syndrome 1 0 1 5 2006-06-27 Q9UMX2 OAZ3_HUMAN OAZ3 Ornithine decarboxylase antizyme 3 235 27.4 1 Nucleus; Cytoplasm 0 0 0 1 5 2001-04-27 Q9UMX5 NENF_HUMAN NENF Neudesin 172 18.9 1 Secreted; Mitochondrion; Endoplasmic reticulum 0 0 0 1 5 2004-04-26 Q9UMX9 S45A2_HUMAN SLC45A2 Membrane-associated transporter protein 530 58.3 5 Melanosome membrane 12 1 Albinism, oculocutaneous, 4 0 1 5 2001-11-16 Q9UN72 PCDA7_HUMAN PCDHA7 Protocadherin alpha-7 937 100.9 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9UN76 S6A14_HUMAN SLC6A14 Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) 642 72.2 X Membrane; Apical cell membrane 12 0 0 1 5 2004-01-16 Q9UNW1 MINP1_HUMAN MINPP1 Multiple inositol polyphosphate phosphatase 1 487 55.1 10 3.1.3.62 Endoplasmic reticulum lumen; Secreted; Cell membrane 0 2 Thyroid cancer, non-medullary, 2; Pontocerebellar hypoplasia 16 0 1 5 2005-07-05 Q9UNY5 ZN232_HUMAN ZNF232 Zinc finger protein 232 444 50.7 17 Nucleus 0 0 0 1 5 2000-12-01 Q9UP65 PA24C_HUMAN PLA2G4C Cytosolic phospholipase A2 gamma 541 60.9 19 3.1.1.4 Cell membrane; Endoplasmic reticulum membrane; Mitochondrion membrane; Lipid droplet 0 0 0 1 5 2004-05-10 Q9UPR5 NAC2_HUMAN SLC8A2 Sodium/calcium exchanger 2 921 100.4 19 Cell membrane; Basolateral cell membrane; Perikaryon; Cell projection 11 0 0 1 5 2000-12-01 Q9UPT5 EXOC7_HUMAN EXOC7 Exocyst complex component 7 735 83.4 17 Cytoplasm; Cell membrane; Midbody 0 1 Neurodevelopmental disorder with seizures and brain atrophy 0 1 5 2002-12-06 Q9UPU3 SORC3_HUMAN SORCS3 VPS10 domain-containing receptor SorCS3 1222 135.8 10 Cell membrane; Synaptic cell membrane; Postsynaptic density 1 0 0 1 5 2002-12-13 Q9UPZ9 CILK1_HUMAN CILK1 Serine/threonine-protein kinase ICK 632 71.4 6 2.7.11.1 Nucleus; Cytoplasm; Cell projection 0 3 Endocrine-cerebroosteodysplasia; Juvenile myoclonic epilepsy 10; Cranioectodermal dysplasia 6 0 1 5 2004-06-07 Q9UQ03 COR2B_HUMAN CORO2B Coronin-2B 480 55 15 Cytoplasm 0 0 0 1 5 2001-01-11 Q9UQ10 DHDH_HUMAN DHDH Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase 334 36.4 19 1.3.1.20 0 0 0 1 5 2008-01-15 Q9WJR5 POK19_HUMAN ERVK-19 Endogenous retrovirus group K member 19 Pol protein 959 108.1 0 0 0 2 5 2004-09-13 Q9Y228 T3JAM_HUMAN TRAF3IP3 TRAF3-interacting JNK-activating modulator 551 63.6 1 Cell membrane; Golgi apparatus membrane; Lysosome membrane; Mitochondrion outer membrane 1 0 0 1 5 2004-06-07 Q9Y264 ANGP4_HUMAN ANGPT4 Angiopoietin-4 503 56.8 20 Secreted 0 0 0 1 5 2001-08-29 Q9Y289 SC5A6_HUMAN SLC5A6 Sodium-dependent multivitamin transporter 635 68.6 2 Cell membrane; Apical cell membrane 13 2 Sodium-dependent multivitamin transporter deficiency; Peripheral motor neuropathy, childhood-onset, biotin-responsive 0 1 5 2001-01-24 Q9Y2A9 B3GN3_HUMAN B3GNT3 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 372 42.5 19 2.4.1.149 Golgi apparatus membrane 1 0 0 1 5 2001-02-21 Q9Y2B1 RXLT1_HUMAN RXYLT1 Ribitol-5-phosphate xylosyltransferase 1 443 51.1 12 2.4.2.61 Golgi apparatus membrane 1 1 Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10 0 1 5 2004-07-19 Q9Y2D1 ATF5_HUMAN ATF5 Cyclic AMP-dependent transcription factor ATF-5 282 30.7 19 Cytoplasm; Nucleus 0 0 0 1 5 2001-02-21 Q9Y2D4 EXC6B_HUMAN EXOC6B Exocyst complex component 6B 811 94.2 2 0 1 Spondyloepimetaphyseal dysplasia with joint laxity, 3 0 1 5 2002-10-25 Q9Y2D5 PLAK2_HUMAN PALM2AKAP2 PALM2-AKAP2 fusion protein 1103 122.1 9 Apical cell membrane 0 0 0 1 5 2001-02-21 Q9Y2D8 ADIP_HUMAN SSX2IP Afadin- and alpha-actinin-binding protein 614 71.2 1 Cell junction; Nucleus; Cytoplasm 0 0 0 1 5 2004-10-11 Q9Y2D9 ZN652_HUMAN ZNF652 Zinc finger protein 652 606 69.7 17 Nucleus 0 0 0 1 5 2007-03-20 Q9Y2F5 ICE1_HUMAN ICE1 Little elongation complex subunit 1 2266 247.9 5 Nucleus 0 0 0 1 5 2007-07-24 Q9Y2G3 AT11B_HUMAN ATP11B Phospholipid-transporting ATPase IF 1177 134.2 3 7.6.2.1 Recycling endosome membrane; Early endosome; Endoplasmic reticulum; Golgi apparatus 10 0 0 1 5 2000-05-30 Q9Y2G8 DJC16_HUMAN DNAJC16 DnaJ homolog subfamily C member 16 782 90.6 1 Endoplasmic reticulum membrane 1 0 0 1 5 2006-05-30 Q9Y2W1 TR150_HUMAN THRAP3 Thyroid hormone receptor-associated protein 3 955 108.7 1 Nucleus; Nucleus speckle 0 0 0 1 5 2003-02-28 Q9Y2X8 UB2D4_HUMAN UBE2D4 Ubiquitin-conjugating enzyme E2 D4 147 16.6 7 2.3.2.23 0 0 0 1 5 2007-01-09 Q9Y328 NSG2_HUMAN NSG2 Neuronal vesicle trafficking-associated protein 2 171 19.1 5 Membrane; Golgi apparatus; Cell projection; Endosome membrane; Early endosome membrane; Late endosome membrane; Lysosome lumen; Cytoplasmic vesicle membrane; Endosome 1 0 0 1 5 2002-05-27 Q9Y366 IFT52_HUMAN IFT52 Intraflagellar transport protein 52 homolog 437 49.7 20 Cell projection 0 1 Short-rib thoracic dysplasia 16 with or without polydactyly 0 1 5 2002-10-19 Q9Y3B3 TMED7_HUMAN TMED7 Transmembrane emp24 domain-containing protein 7 224 25.2 5 Endoplasmic reticulum membrane; Golgi apparatus; Endoplasmic reticulum-Golgi intermediate compartment membrane; Cytoplasmic vesicle 1 0 0 1 5 2001-01-24 Q9Y3L5 RAP2C_HUMAN RAP2C Ras-related protein Rap-2c 183 20.7 X 3.6.5.2 Cytoplasm; Recycling endosome membrane 0 0 0 1 5 2004-05-10 Q9Y3Q3 TMED3_HUMAN TMED3 Transmembrane emp24 domain-containing protein 3 217 24.8 15 Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus; Endoplasmic reticulum membrane; Cytoplasmic vesicle 1 0 0 1 5 2002-11-28 Q9Y3Q8 T22D4_HUMAN TSC22D4 TSC22 domain family protein 4 395 41 7 Nucleus; Cytoplasm; Cell projection; Synapse 0 0 0 1 5 2001-06-01 Q9Y3Y2 CHTOP_HUMAN CHTOP Chromatin target of PRMT1 protein 248 26.4 1 Nucleus; Nucleus speckle 0 0 0 1 5 2000-12-01 Q9Y448 SKAP_HUMAN KNSTRN Small kinetochore-associated protein 316 35.4 15 Nucleus; Chromosome; Cytoplasm 0 1 Roifman-Chitayat syndrome 0 1 5 2007-02-06 Q9Y467 SALL2_HUMAN SALL2 Sal-like protein 2 1007 105.4 14 Nucleus 0 1 Coloboma, ocular, autosomal recessive 0 1 5 2002-05-02 Q9Y473 ZN175_HUMAN ZNF175 Zinc finger protein 175 711 81.6 19 Cytoplasm; Nucleus 0 0 0 1 5 2001-01-11 Q9Y4B4 ARIP4_HUMAN RAD54L2 Helicase ARIP4 1467 162.8 3 5.6.2.- Nucleus; Chromosome 0 0 0 1 5 2008-01-15 Q9Y4C2 TCAF1_HUMAN TCAF1 TRPM8 channel-associated factor 1 921 102.1 7 Cell membrane 0 0 0 1 5 2008-02-26 Q9Y4D2 DGLA_HUMAN DAGLA Diacylglycerol lipase-alpha 1042 115 11 3.1.1.116 Cell membrane; Postsynaptic density membrane; Early endosome membrane; Cell projection 4 2 Spinocerebellar ataxia 20; Neuroocular syndrome 2, paroxysmal type 0 1 5 2006-09-05 Q9Y4F9 RIPR2_HUMAN RIPOR2 Rho family-interacting cell polarization regulator 2 1068 118.5 6 Cytoplasm; Cell projection; Apical cell membrane 0 2 Deafness, autosomal recessive, 104; Deafness, autosomal dominant, 21 0 1 5 2007-05-29 Q9Y4R7 TTLL3_HUMAN TTLL3 Tubulin monoglycylase TTLL3 772 87.4 3 6.3.2.- Cytoplasm; Cell projection 0 0 0 1 5 2002-05-02 Q9Y4X0 AMMR1_HUMAN AMMECR1 Nuclear protein AMMECR1 333 35.5 X Nucleus 0 2 Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; AMME complex 0 1 5 2003-10-10 Q9Y575 ASB3_HUMAN ASB3 Ankyrin repeat and SOCS box protein 3 518 57.7 2 Cytoplasm 0 0 0 1 5 2002-05-10 Q9Y597 KCTD3_HUMAN KCTD3 BTB/POZ domain-containing protein KCTD3 815 89 1 Cell membrane 0 0 0 1 5 2006-08-22 Q9Y5E1 PCDB9_HUMAN PCDHB9 Protocadherin beta-9 797 87.1 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5G9 PCDG4_HUMAN PCDHGA4 Protocadherin gamma-A4 962 104 5 Cell membrane 1 0 0 1 5 2003-10-24 Q9Y5H8 PCDA3_HUMAN PCDHA3 Protocadherin alpha-3 950 102.4 5 Cell membrane 1 0 0 1 5 2001-04-27 Q9Y5S8 NOX1_HUMAN NOX1 NADPH oxidase 1 564 64.9 X 1.6.3.- Cell projection; Cell membrane 6 0 0 1 5 2000-05-30 Q9Y5U9 IR3IP_HUMAN IER3IP1 Immediate early response 3-interacting protein 1 82 9 18 Endoplasmic reticulum membrane 2 1 Microcephaly, epilepsy, and diabetes syndrome 1 0 1 5 2006-10-31 Q9Y5Y2 NUBP2_HUMAN NUBP2 Cytosolic Fe-S cluster assembly factor NUBP2 271 28.8 16 Nucleus; Cytoplasm 0 0 0 1 5 2001-04-27 Q9Y605 MOFA1_HUMAN MRFAP1 MORF4 family-associated protein 1 127 14.7 4 Nucleus; Cytoplasm 0 0 0 1 5 2007-10-02 Q9Y662 HS3SB_HUMAN HS3ST3B1 Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 390 43.3 17 2.8.2.30 Golgi apparatus membrane 1 0 0 1 5 2005-03-15 Q9Y6E7 SIR4_HUMAN SIRT4 NAD-dependent protein lipoamidase sirtuin-4, mitochondrial 314 35.2 12 2.3.1.313 Mitochondrion matrix 0 0 0 1 5 2003-10-31 Q9Y6L7 TLL2_HUMAN TLL2 Tolloid-like protein 2 1015 113.6 10 3.4.24.- Secreted 0 0 0 1 5 2006-02-07 Q9Y6M0 TEST_HUMAN PRSS21 Testisin 314 34.9 16 3.4.21.- Cell membrane 0 0 0 1 5 2001-04-27 Q9Y6Q1 CAN6_HUMAN CAPN6 Calpain-6 641 74.6 X Cytoplasm 0 0 0 1 5 2001-05-04 Q9Y6Z7 COL10_HUMAN COLEC10 Collectin-10 277 30.7 8 Secreted; Golgi apparatus; Cytoplasm 0 1 3MC syndrome 3 0 1 5 2008-01-15 A0A1B0GTB2 TUNAR_HUMAN TUNAR Protein TUNAR 48 5.4 14 Endoplasmic reticulum membrane; Extracellular vesicle membrane 1 0 0 1 4 2022-05-25 A0AVI2 FR1L5_HUMAN FER1L5 Fer-1-like protein 5 2057 237.9 2 Cell membrane; Cytoplasmic vesicle membrane 1 0 0 1 4 2007-09-11 A0PJW6 TM223_HUMAN TMEM223 Transmembrane protein 223 202 22 11 Mitochondrion inner membrane 2 0 0 1 4 2008-02-26 A0PJW8 DAPL1_HUMAN DAPL1 Death-associated protein-like 1 107 11.9 2 0 0 0 1 4 2008-02-05 A0PJX0 CIB4_HUMAN CIB4 Calcium and integrin-binding family member 4 185 21.7 2 0 0 0 1 4 2007-05-29 A2A2V5 SRTM1_HUMAN SERTM1 Serine-rich and transmembrane domain-containing protein 1 107 11.5 13 Membrane 1 0 0 1 4 2008-04-29 A2AJT9 BCLA3_HUMAN BCLAF3 BCLAF1 and THRAP3 family member 3 711 83.9 X Nucleus; Nucleus speckle 0 0 0 1 4 2007-05-15 A2VDF0 FUCM_HUMAN FUOM Fucose mutarotase 154 16.8 10 5.1.3.29 0 0 0 1 4 2007-05-15 A3KN83 SBNO1_HUMAN SBNO1 Protein strawberry notch homolog 1 1393 154.3 12 Nucleus 0 0 0 1 4 2008-01-15 A4FU69 EFCB5_HUMAN EFCAB5 EF-hand calcium-binding domain-containing protein 5 1503 173.4 17 0 0 0 1 4 2008-01-15 A4IF30 S35F4_HUMAN SLC35F4 Solute carrier family 35 member F4 521 57.8 14 Membrane 10 0 0 1 4 2007-12-04 A6NDP7 MADL2_HUMAN MYADML2 Myeloid-associated differentiation marker-like protein 2 307 33 17 Membrane 7 0 0 1 4 2008-04-29 A6NEQ0 RBY1E_HUMAN RBMY1E RNA-binding motif protein, Y chromosome, family 1 member E 496 55.8 Y Nucleus 0 0 0 1 4 2008-06-10 A6NLX3 SPDE4_HUMAN SPDYE4 Speedy protein E4 237 27.8 17 0 0 0 1 4 2008-09-02 A6NM10 AQ12B_HUMAN AQP12B Putative aquaporin-12B 295 31.5 2 Membrane 6 0 0 1 4 2008-04-08 A6ZKI3 RTL8C_HUMAN RTL8C Retrotransposon Gag-like protein 8C 113 13.2 X 0 0 0 1 4 2007-11-13 A7XYQ1 SOBP_HUMAN SOBP Sine oculis-binding protein homolog 873 92.7 6 0 1 Impaired intellectual development, anterior maxillary protrusion, and strabismus 0 1 4 2007-12-04 B3EWG3 FM25A_HUMAN FAM25A Protein FAM25A 89 9.3 10 0 0 0 1 4 2012-03-21 B4DS77 SHSA9_HUMAN SHISA9 Protein shisa-9 424 46.9 16 Cell projection; Synapse 1 0 0 1 4 2010-03-23 C0HM02 PKHUO_HUMAN PRKCH PRKCH upstream open reading frame 2 26 2.8 14 0 0 0 1 4 2022-05-25 O00534 VMA5A_HUMAN VWA5A von Willebrand factor A domain-containing protein 5A 786 86.5 11 0 0 0 1 4 2002-10-19 O00624 NPT3_HUMAN SLC17A2 Sodium-dependent phosphate transport protein 3 439 47.3 6 Apical cell membrane 9 0 0 1 4 1998-07-15 O14602 IF1AY_HUMAN EIF1AY Eukaryotic translation initiation factor 1A, Y-chromosomal 144 16.4 Y Cytoplasm 0 0 0 1 4 1999-07-15 O15069 NACAD_HUMAN NACAD NAC-alpha domain-containing protein 1 1562 161.1 7 Cytoplasm; Nucleus 0 0 0 1 4 2007-03-20 O43345 ZN208_HUMAN ZNF208 Zinc finger protein 208 1280 147.5 19 Nucleus 0 0 0 1 4 2001-01-24 O43657 TSN6_HUMAN TSPAN6 Tetraspanin-6 245 27.6 X Membrane 4 0 0 1 4 2000-12-01 O60224 SSX4_HUMAN SSX4 Protein SSX4 188 21.9 X 0 0 0 1 4 1999-07-15 O60262 GBG7_HUMAN GNG7 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7 68 7.5 19 Cell membrane 0 0 0 1 4 1999-07-15 O60330 PCDGC_HUMAN PCDHGA12 Protocadherin gamma-A12 932 101 5 Cell membrane 1 0 0 1 4 2003-10-24 O60347 TBC12_HUMAN TBC1D12 TBC1 domain family member 12 775 85.6 10 Endosome 0 0 0 1 4 2004-06-21 O60522 TDRD6_HUMAN TDRD6 Tudor domain-containing protein 6 2096 236.5 6 Cytoplasm 0 0 0 1 4 2003-12-15 O60542 PSPN_HUMAN PSPN Persephin 156 16.6 19 Secreted 0 0 0 2 4 2000-05-30 O75157 T22D2_HUMAN TSC22D2 TSC22 domain family protein 2 780 79.2 3 0 0 0 1 4 2005-03-29 O75493 CAH11_HUMAN CA11 Carbonic anhydrase-related protein 11 328 36.2 19 Secreted 0 0 0 1 4 2000-05-30 O75973 C1QRF_HUMAN C1QL1 C1q-related factor 258 26.5 17 Secreted 0 0 0 1 4 2001-04-27 O76099 OR7C1_HUMAN OR7C1 Olfactory receptor 7C1 320 35.5 19 Cell membrane 7 0 0 1 4 2000-12-01 O94903 PLPHP_HUMAN PLPBP Pyridoxal phosphate homeostasis protein 275 30.3 8 0 1 Epilepsy, early-onset, 1, vitamin B6-dependent 0 1 4 2001-01-11 O95371 OR2C1_HUMAN OR2C1 Olfactory receptor 2C1 312 34.4 16 Cell membrane 7 0 0 2 4 2000-12-01 O95411 TIAF1_HUMAN MYO18A Putative TGFB1-induced anti-apoptotic factor 1 115 12.4 17 Nucleus 0 0 0 5 4 2000-05-30 O95620 DUS4L_HUMAN DUS4L tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like 317 35.8 7 1.3.1.90 0 0 0 1 4 2006-07-25 P01571 IFN17_HUMAN IFNA17 Interferon alpha-17 189 21.7 9 Secreted 0 0 0 1 4 1986-07-21 P04808 REL1_HUMAN RLN1 Prorelaxin H1 185 21.1 9 Secreted 0 0 0 1 4 1987-08-13 P09093 CEL3A_HUMAN CELA3A Chymotrypsin-like elastase family member 3A 270 29.5 1 3.4.21.70 0 0 0 1 4 1989-07-01 P09630 HXC6_HUMAN HOXC6 Homeobox protein Hox-C6 235 26.9 12 Nucleus 0 0 0 1 4 1989-07-01 P0C626 OR5G3_HUMAN OR5G3 Olfactory receptor 5G3 314 35.6 Cell membrane 7 0 0 3 4 2008-01-15 P0C645 OR4E1_HUMAN OR4E1 Olfactory receptor 4E1 315 35.7 14 Cell membrane 7 0 0 3 4 2008-01-15 P0CG38 POTEI_HUMAN POTEI POTE ankyrin domain family member I 1075 121.3 2 0 0 0 1 4 2010-07-13 P0DN77 OPSG2_HUMAN OPN1MW2 Medium-wave-sensitive opsin 2 364 40.6 X Cell membrane; Photoreceptor outer segment membrane 7 0 0 3 4 2016-02-17 P17022 ZNF18_HUMAN ZNF18 Zinc finger protein 18 549 62.3 17 Nucleus 0 0 0 1 4 1990-08-01 P17097 ZNF7_HUMAN ZNF7 Zinc finger protein 7 686 77.9 8 Nucleus 0 0 0 1 4 1990-08-01 P22531 SPR2E_HUMAN SPRR2E Small proline-rich protein 2E 72 7.9 1 Cytoplasm 0 0 0 2 4 1991-08-01 P30408 T4S1_HUMAN TM4SF1 Transmembrane 4 L6 family member 1 202 21.6 3 Membrane 4 0 0 1 4 1993-04-01 P48304 REG1B_HUMAN REG1B Lithostathine-1-beta 166 18.7 2 Secreted 0 0 0 1 4 1996-02-01 P51815 ZN75D_HUMAN ZNF75D Zinc finger protein 75D 510 59.3 X Nucleus 0 0 0 2 4 1996-10-01 P52741 ZN134_HUMAN ZNF134 Zinc finger protein 134 427 48.5 19 Nucleus 0 0 0 1 4 1996-10-01 P55082 MFAP3_HUMAN MFAP3 Microfibril-associated glycoprotein 3 362 40.2 5 Cell membrane 1 0 0 1 4 1996-10-01 P57077 M3KCL_HUMAN MAP3K7CL MAP3K7 C-terminal-like protein 142 16.4 21 0 0 0 1 4 2000-12-01 P57775 FBXW4_HUMAN FBXW4 F-box/WD repeat-containing protein 4 412 46.3 10 0 1 Split-hand/foot malformation 3 0 1 4 2001-02-21 P58658 EVA1C_HUMAN EVA1C Protein eva-1 homolog C 441 49.5 21 Membrane 1 0 0 1 4 2002-01-23 P59534 T2R39_HUMAN TAS2R39 Taste receptor type 2 member 39 338 38.6 7 Membrane 7 0 0 2 4 2003-04-11 P59827 BPIB4_HUMAN BPIFB4 BPI fold-containing family B member 4 614 65.1 20 Secreted; Cytoplasm 0 0 0 1 4 2003-08-29 P60413 KR10C_HUMAN KRTAP10-12 Keratin-associated protein 10-12 245 25.1 21 0 0 0 1 4 2004-02-16 P63130 GAK7_HUMAN ERVK-7 Endogenous retrovirus group K member 7 Gag polyprotein 666 74.1 Cell membrane 0 0 0 3 4 2004-09-13 P63132 PO113_HUMAN HERVK_113 Endogenous retrovirus group K member 113 Pol protein 959 108.1 0 0 0 3 4 2004-09-13 P82970 HMGN5_HUMAN HMGN5 High mobility group nucleosome-binding domain-containing protein 5 282 31.5 X Nucleus 0 0 0 1 4 2002-09-19 Q06203 PUR1_HUMAN PPAT Amidophosphoribosyltransferase 517 57.4 4 2.4.2.14 0 0 0 1 4 1994-06-01 Q0P6D6 CCD15_HUMAN CCDC15 Coiled-coil domain-containing protein 15 951 110.5 11 Cytoplasm 0 0 0 1 4 2007-10-23 Q0VDG4 SCRN3_HUMAN SCRN3 Secernin-3 424 48.5 2 0 0 0 1 4 2006-11-28 Q13401 PM2P3_HUMAN PMS2P3 Putative postmeiotic segregation increased 2-like protein 3 168 18.7 0 0 0 5 4 2007-11-13 Q14094 CCNI_HUMAN CCNI Cyclin-I 377 42.6 4 Nucleus membrane 0 0 0 1 4 2000-12-01 Q14439 GP176_HUMAN GPR176 G protein-coupled receptor 176 515 57 15 Cell membrane 7 0 0 1 4 2005-11-22 Q14593 ZN273_HUMAN ZNF273 Zinc finger protein 273 569 65 7 Nucleus 0 0 0 1 4 2000-12-01 Q14C87 T132D_HUMAN TMEM132D Transmembrane protein 132D 1099 122.3 12 Membrane 1 0 0 1 4 2007-05-15 Q15760 GPR19_HUMAN GPR19 Probable G protein-coupled receptor 19 415 47.7 12 Cell membrane 7 0 0 1 4 1997-11-01 Q16378 PROL4_HUMAN PRR4 Proline-rich protein 4 134 15.1 12 Secreted 0 0 0 1 4 2002-05-27 Q16538 GP162_HUMAN GPR162 Probable G protein-coupled receptor 162 588 63.9 12 Cell membrane 7 0 0 1 4 2005-11-22 Q2KJY2 KI26B_HUMAN KIF26B Kinesin-like protein KIF26B 2108 223.9 1 Cytoplasm 0 0 0 1 4 2007-10-23 Q2M2I3 SCK1E_HUMAN SACK1E Scaffolding CK1 anchoring protein E 478 51.8 19 Cytoplasm 0 0 0 1 4 2008-01-15 Q2M3G4 SHRM1_HUMAN SHROOM1 Protein Shroom1 852 90.8 5 Cytoplasm 0 0 0 1 4 2007-05-01 Q2M3X9 ZN674_HUMAN ZNF674 Zinc finger protein 674 581 67.2 X Nucleus 0 0 0 1 4 2006-05-02 Q2TAC6 KIF19_HUMAN KIF19 Kinesin-like protein KIF19 998 111.3 17 Cytoplasm; Cell projection 0 0 0 1 4 2007-02-20 Q32ZL2 PLPR5_HUMAN PLPPR5 Phospholipid phosphatase-related protein type 5 321 35.4 1 Cell membrane 6 0 0 1 4 2008-02-26 Q3B8N2 LEG9B_HUMAN LGALS9B Galectin-9B 356 39.7 17 0 0 0 1 4 2008-02-26 Q3B8N5 PROX2_HUMAN PROX2 Prospero homeobox protein 2 592 65.6 14 Nucleus 0 0 0 2 4 2008-07-01 Q3BBV0 NBPF1_HUMAN NBPF1 NBPF family member NBPF1 1214 139.3 1 Cytoplasm 0 0 0 1 4 2007-05-29 Q3KPI0 CEA21_HUMAN CEACAM21 Cell adhesion molecule CEACAM21 293 32.4 19 Membrane 1 0 0 1 4 2007-08-21 Q3ZCN5 OTOGL_HUMAN OTOGL Otogelin-like protein 2353 264.6 12 Secreted 0 1 Deafness, autosomal recessive, 84B 0 1 4 2008-02-05 Q3ZCQ3 F174B_HUMAN FAM174B Membrane protein FAM174B 159 17 15 Cell membrane; Golgi apparatus 1 0 0 1 4 2008-03-18 Q495N2 S36A3_HUMAN SLC36A3 Proton-coupled amino acid transporter 3 470 51.7 5 Membrane 11 0 0 2 4 2008-03-18 Q495X7 TRI60_HUMAN TRIM60 Tripartite motif-containing protein 60 471 55.1 4 0 0 0 1 4 2006-09-05 Q49SQ1 GPR33_HUMAN GPR33 Probable G protein-coupled receptor 33 333 38.2 14 Cell membrane 7 0 0 2 4 2005-11-22 Q4G0F5 VP26B_HUMAN VPS26B Vacuolar protein sorting-associated protein 26B 336 39.2 11 Cytoplasm; Membrane; Early endosome; Late endosome 0 0 0 1 4 2006-07-25 Q4VNC0 AT135_HUMAN ATP13A5 Probable cation-transporting ATPase 13A5 1218 137.3 3 7.2.2.- Membrane 10 0 0 1 4 2008-05-20 Q567V2 M17L2_HUMAN MPV17L2 Mpv17-like protein 2 206 23.2 19 Membrane; Mitochondrion inner membrane 3 0 0 1 4 2008-02-05 Q5BIV9 SPRN_HUMAN SPRN Shadow of prion protein 151 14.5 10 Cell membrane 0 0 0 1 4 2008-02-26 Q5HYJ1 TECRL_HUMAN TECRL Trans-2,3-enoyl-CoA reductase-like 363 42 4 1.3.1.- Membrane; Endoplasmic reticulum 3 1 Ventricular tachycardia, catecholaminergic polymorphic, 3 0 1 4 2008-02-05 Q5I0X4 PEX39_HUMAN PEX39 Peroxisomal biogenesis factor 39 101 10.6 6 Cytoplasm 0 0 0 1 4 2008-05-20 Q5JU69 TOR2A_HUMAN TOR2A Torsin-2A 321 35.7 9 Endoplasmic reticulum lumen 0 0 0 1 4 2006-03-21 Q5MAI5 CDKL4_HUMAN CDKL4 Cyclin-dependent kinase-like 4 379 43.4 2 2.7.11.22 Cytoplasm 0 0 0 1 4 2005-11-22 Q5RIA9 ZNG1E_HUMAN ZNG1E Zinc-regulated GTPase metalloprotein activator 1E 395 44.1 9 3.6.5.- Nucleus 0 0 0 2 4 2008-02-05 Q5T2E6 ARMD3_HUMAN ARMH3 Armadillo-like helical domain-containing protein 3 689 78.7 10 Golgi apparatus membrane; Cytoplasm 1 0 0 1 4 2007-04-17 Q5T6J7 GNTK_HUMAN IDNK Gluconokinase 187 20.6 9 2.7.1.12 0 0 0 1 4 2008-04-08 Q5T871 LELP1_HUMAN LELP1 Late cornified envelope-like proline-rich protein 1 98 10.7 1 0 0 0 1 4 2007-01-09 Q5TC12 ATPF1_HUMAN ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 328 36.4 1 Mitochondrion inner membrane 0 0 0 1 4 2008-03-18 Q5VXH4 PRAM6_HUMAN PRAMEF6 PRAME family member 6 476 54.9 1 0 0 0 1 4 2005-12-20 Q5VXJ0 LIPK_HUMAN LIPK Lipase member K 399 45.6 10 3.1.1.- Secreted 0 0 0 1 4 2007-05-15 Q5VXT5 SYPL2_HUMAN SYPL2 Synaptophysin-like protein 2 272 30.2 1 Membrane 4 0 0 1 4 2005-07-05 Q5VXU1 NKAI2_HUMAN NKAIN2 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 2 208 23.8 6 Cell membrane 4 0 0 1 4 2006-12-12 Q5VZP5 STYL2_HUMAN STYXL2 Serine/threonine/tyrosine-interacting-like protein 2 1158 130.2 1 Cytoplasm 0 0 0 1 4 2007-09-11 Q66K41 Z385C_HUMAN ZNF385C Zinc finger protein 385C 422 44.1 17 Nucleus 0 0 0 1 4 2008-02-26 Q66K66 TM198_HUMAN TMEM198 Transmembrane protein 198 360 39.5 2 Membrane; Cell membrane; Cytoplasmic vesicle 7 0 0 1 4 2008-03-18 Q66LE6 2ABD_HUMAN PPP2R2D Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform 453 52 10 Cytoplasm 0 0 0 1 4 2006-01-24 Q68BL8 OLM2B_HUMAN OLFML2B Olfactomedin-like protein 2B 750 84 1 Secreted 0 0 0 1 4 2007-11-13 Q6AZW8 ZN660_HUMAN ZNF660 Zinc finger protein 660 331 38.3 3 Nucleus 0 0 0 1 4 2005-11-08 Q6ECI4 ZN470_HUMAN ZNF470 Zinc finger protein 470 717 82.7 19 Nucleus 0 0 0 1 4 2007-03-20 Q6IPR1 ETFR1_HUMAN ETFRF1 Electron transfer flavoprotein regulatory factor 1 90 10.9 12 Mitochondrion 0 0 0 1 4 2006-10-03 Q6IPT4 NB5R5_HUMAN CYB5RL NADH-cytochrome b5 reductase-like 315 35.9 1 1.6.2.2 0 0 0 1 4 2008-05-20 Q6J272 CMI2A_HUMAN CIMIP2A Ciliary microtubule inner protein 2A 317 36.2 9 Cytoplasm 0 0 0 1 4 2008-03-18 Q6MZT1 R7BP_HUMAN RGS7BP Regulator of G protein signaling 7-binding protein 257 29 5 Nucleus; Cytoplasm; Cell membrane 0 0 0 1 4 2007-05-15 Q6N063 OGFD2_HUMAN OGFOD2 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 350 39 12 1.14.11.- 0 0 0 1 4 2007-05-29 Q6NSZ9 ZSC25_HUMAN ZSCAN25 Zinc finger and SCAN domain-containing protein 25 544 61.5 7 Nucleus 0 0 0 1 4 2007-11-13 Q6NUK4 REEP3_HUMAN REEP3 Receptor expression-enhancing protein 3 255 29.3 10 Endoplasmic reticulum membrane 3 0 0 1 4 2005-12-20 Q6NUM6 TYW1B_HUMAN TYW1B S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B 668 76.9 7 4.1.3.44 0 0 0 1 4 2007-04-03 Q6P2I3 FAH2B_HUMAN FAHD2B Oxaloacetate tautomerase FAHD2B, mitochondrial 314 34.6 2 5.3.2.2 Mitochondrion 0 0 0 1 4 2007-05-29 Q6P444 MTFR2_HUMAN MTFR2 Mitochondrial fission regulator 2 385 43.4 6 Mitochondrion 0 0 0 1 4 2004-12-07 Q6P461 ACSM6_HUMAN ACSM6 Acyl-coenzyme A synthetase ACSM6, mitochondrial 480 53.6 10 6.2.1.2 Mitochondrion 0 0 0 1 4 2008-05-20 Q6P4D5 PBIR3_HUMAN PABIR3 PABIR family member 1 195 22.5 X 0 0 0 1 4 2006-10-31 Q6P9H5 GIMA6_HUMAN GIMAP6 GTPase IMAP family member 6 292 32.9 7 Cytoplasm 0 0 0 1 4 2008-05-20 Q6PEZ8 PONL1_HUMAN PODNL1 Podocan-like protein 1 505 55.9 19 Secreted 0 0 0 1 4 2007-11-13 Q6PJQ5 FOXR2_HUMAN FOXR2 Forkhead box protein R2 311 35.9 X Nucleus 0 0 0 1 4 2006-10-17 Q6SJ96 TBPL2_HUMAN TBPL2 TATA box-binding protein-like 2 343 38 14 Cytoplasm; Nucleus 0 0 0 2 4 2008-02-05 Q6T4P5 PLPR3_HUMAN PLPPR3 Phospholipid phosphatase-related protein type 3 718 76 19 Membrane 6 0 0 1 4 2008-02-05 Q6UWD8 CP054_HUMAN C16orf54 Transmembrane protein C16orf54 224 24.4 16 Membrane 1 0 0 1 4 2007-03-06 Q6UWH4 GAK1B_HUMAN GASK1B Golgi-associated kinase 1B 519 57.6 4 Golgi apparatus membrane 1 0 0 1 4 2007-05-29 Q6UWQ7 IGFL2_HUMAN IGFL2 Insulin growth factor-like family member 2 119 13.2 19 Secreted 0 0 0 1 4 2005-12-20 Q6UWW9 TM207_HUMAN TMEM207 Transmembrane protein 207 146 16.1 3 Early endosome membrane 1 0 0 1 4 2008-02-05 Q6UXT9 ABH15_HUMAN ABHD15 Protein ABHD15 468 51.8 17 Secreted 0 0 0 1 4 2008-07-22 Q6WBX8 RAD9B_HUMAN RAD9B Cell cycle checkpoint control protein RAD9B 426 47.8 12 0 0 0 1 4 2006-03-07 Q6YI46 TMM64_HUMAN TMEM64 Transmembrane protein 64 380 39.7 8 Membrane; Endoplasmic reticulum 6 0 0 1 4 2007-05-15 Q6ZP65 BICL1_HUMAN BICDL1 BICD family-like cargo adapter 1 573 64.8 12 Cytoplasm 0 0 0 1 4 2007-09-11 Q6ZTR7 CBAR2_HUMAN CIBAR2 CBY1-interacting BAR domain-containing protein 2 304 34.8 16 Cytoplasm 0 0 0 1 4 2008-05-20 Q6ZU65 UBN2_HUMAN UBN2 Ubinuclein-2 1347 146.1 7 0 0 0 1 4 2007-07-24 Q6ZUB1 S31E1_HUMAN SPATA31E1 Spermatogenesis-associated protein 31E1 1445 157.1 9 Membrane 1 0 0 1 4 2005-07-19 Q6ZUT9 DEN5B_HUMAN DENND5B DENN domain-containing protein 5B 1274 145 12 Membrane 1 0 0 1 4 2008-04-08 Q6ZVX7 FBX50_HUMAN NCCRP1 F-box only protein 50 275 30.8 19 Cytoplasm 0 0 0 1 4 2008-03-18 Q76B58 BRNP3_HUMAN BRINP3 BMP/retinoic acid-inducible neural-specific protein 3 766 88.4 1 Secreted; Mitochondrion 0 0 0 1 4 2006-01-24 Q76M96 CCD80_HUMAN CCDC80 Coiled-coil domain-containing protein 80 950 108.2 3 Secreted 0 0 0 1 4 2007-04-03 Q7RTS1 BHA15_HUMAN BHLHA15 Class A basic helix-loop-helix protein 15 189 20.8 7 Nucleus 0 0 0 1 4 2004-07-19 Q7RTV3 ZN367_HUMAN ZNF367 Zinc finger protein 367 350 38.4 9 Nucleus 0 0 0 1 4 2007-05-01 Q7RTY7 OVCH1_HUMAN OVCH1 Ovochymase-1 1134 125 12 3.4.21.- Secreted 0 0 0 1 4 2006-11-28 Q7Z340 ZN551_HUMAN ZNF551 Zinc finger protein 551 670 77.5 19 Nucleus 0 0 0 1 4 2005-07-19 Q7Z404 TMC4_HUMAN TMC4 Voltage-gated chloride channel TMC4 712 79.2 Membrane 9 0 0 1 4 2007-05-29 Q7Z5H4 VN1R5_HUMAN VN1R5 Vomeronasal type-1 receptor 5 357 40.8 Cell membrane 7 0 0 2 4 2005-07-05 Q7Z5M5 TMC3_HUMAN TMC3 Transmembrane channel-like protein 3 1100 125.7 15 Membrane 10 0 0 2 4 2006-10-31 Q7Z7M1 AGRD2_HUMAN ADGRD2 Adhesion G protein-coupled receptor D2 963 104.1 9 Membrane 7 0 0 2 4 2005-02-15 Q86V21 AACS_HUMAN AACS Acetoacetyl-CoA synthetase 672 75.1 12 6.2.1.16 Cytoplasm 0 0 0 1 4 2008-01-15 Q86VH4 LRRT4_HUMAN LRRTM4 Leucine-rich repeat transmembrane neuronal protein 4 590 67.2 2 Cell membrane; Postsynaptic cell membrane 1 0 0 1 4 2005-06-21 Q86VR7 VS10L_HUMAN VSIG10L V-set and immunoglobulin domain-containing protein 10-like 867 91.6 19 Membrane 1 0 0 1 4 2010-06-15 Q86VZ4 LRP11_HUMAN LRP11 Low-density lipoprotein receptor-related protein 11 500 53.3 6 Membrane 1 0 0 1 4 2004-05-10 Q86WW8 COA5_HUMAN COA5 Cytochrome c oxidase assembly factor 5 74 8.4 2 Mitochondrion intermembrane space 0 1 Mitochondrial complex IV deficiency, nuclear type 9 0 1 4 2008-03-18 Q86XR2 NIBA3_HUMAN NIBAN3 Protein Niban 3 697 77.4 19 0 0 0 1 4 2008-03-18 Q8IUE0 TF2LY_HUMAN TGIF2LY Homeobox protein TGIF2LY 185 20.8 Y Nucleus 0 0 0 1 4 2004-03-01 Q8IVW1 AL17A_HUMAN ARL17A Putative ADP-ribosylation factor-like protein 17A 177 19.4 17 0 0 0 2 4 2003-10-31 Q8IX06 GOR_HUMAN REXO1L1P Putative exonuclease GOR 675 73.9 3.1.-.- Cytoplasm; Nucleus 0 0 0 5 4 2003-11-28 Q8IYL2 TRM44_HUMAN TRMT44 Probable tRNA (uracil-O(2)-)-methyltransferase 757 84.6 4 2.1.1.211 Cytoplasm 0 0 0 1 4 2006-09-19 Q8IYU4 UBQLN_HUMAN UBQLNL Ubiquilin-like protein 475 52.9 11 0 0 0 1 4 2007-10-23 Q8IYW2 CFA46_HUMAN CFAP46 Cilia- and flagella-associated protein 46 2715 303.5 10 Cytoplasm 0 0 0 1 4 2005-08-16 Q8IZA3 H18_HUMAN H1-8 Histone H1.8 346 35.8 3 Cytoplasm; Nucleus; Chromosome 0 0 0 2 4 2008-07-01 Q8IZS5 OFCC1_HUMAN OFCC1 Orofacial cleft 1 candidate gene 1 protein 231 26.8 0 0 0 1 4 2008-05-20 Q8N0Y7 PGAM4_HUMAN PGAM4 Probable phosphoglycerate mutase 4 254 28.8 X 5.4.2.11, 5.4.2.4 0 0 0 1 4 2002-11-28 Q8N143 BCL6B_HUMAN BCL6B B-cell CLL/lymphoma 6 member B protein 479 51.5 17 Nucleus 0 0 0 1 4 2004-09-27 Q8N1D0 BWR1B_HUMAN SLC67A1-AS Uncharacterized protein SLC67A1-AS 253 27.1 11 0 0 0 1 4 2005-12-06 Q8N1S5 S39AB_HUMAN SLC39A11 Zinc transporter ZIP11 342 35.4 17 Cell membrane; Nucleus; Cytoplasm; Golgi apparatus 7 0 0 1 4 2007-10-23 Q8N3X1 FNBP4_HUMAN FNBP4 Formin-binding protein 4 1017 110.3 11 0 0 0 1 4 2007-05-29 Q8N461 FXL16_HUMAN FBXL16 F-box/LRR-repeat protein 16 479 51.7 16 0 0 0 1 4 2004-07-19 Q8N4T4 ARG39_HUMAN ARHGEF39 Rho guanine nucleotide exchange factor 39 335 38.3 9 Cell membrane 0 0 0 1 4 2007-06-26 Q8N4Z0 RAB42_HUMAN RAB42 Ras-related protein Rab-42 218 24.1 1 3.6.5.2 Membrane 0 0 0 1 4 2007-01-09 Q8N531 FBXL6_HUMAN FBXL6 F-box/LRR-repeat protein 6 539 58.6 8 0 0 0 1 4 2003-10-03 Q8N5M4 TTC9C_HUMAN TTC9C Tetratricopeptide repeat protein 9C 171 20 11 0 0 0 1 4 2007-07-10 Q8N6S5 AR6P6_HUMAN ARL6IP6 ADP-ribosylation factor-like protein 6-interacting protein 6 226 24.7 2 Nucleus inner membrane 3 0 0 1 4 2007-10-23 Q8N7A1 KLDC1_HUMAN KLHDC1 Kelch domain-containing protein 1 406 46.7 14 Cytoplasm 0 0 0 1 4 2003-02-12 Q8N7B1 HORM2_HUMAN HORMAD2 HORMA domain-containing protein 2 307 35.3 22 Nucleus; Chromosome 0 0 0 1 4 2007-04-17 Q8N7R0 NANG2_HUMAN NANOGP1 Putative homeobox protein NANOG2 232 26.9 Nucleus 0 0 0 5 4 2006-11-28 Q8N831 TSYL6_HUMAN TSPYL6 Testis-specific Y-encoded-like protein 6 410 45.9 2 0 0 0 1 4 2007-10-23 Q8N8F6 YIPF7_HUMAN YIPF7 Protein YIPF7 256 27.8 4 Endoplasmic reticulum membrane; Golgi apparatus 5 0 0 1 4 2008-05-20 Q8N8G2 VGLL2_HUMAN VGLL2 Transcription cofactor vestigial-like protein 2 317 33.4 6 Nucleus 0 0 0 1 4 2004-07-19 Q8N988 ZN557_HUMAN ZNF557 Zinc finger protein 557 423 48.6 19 Nucleus 0 0 0 1 4 2005-07-05 Q8N9W4 GG6L2_HUMAN GOLGA6L2 Golgin subfamily A member 6-like protein 2 909 100.6 15 0 0 0 1 4 2008-02-26 Q8NBF6 AVL9_HUMAN AVL9 Late secretory pathway protein AVL9 homolog 648 71.9 7 Recycling endosome; Membrane 1 0 0 1 4 2006-07-25 Q8NCF0 CL18C_HUMAN CLEC18C C-type lectin domain family 18 member C 446 49.6 16 Secreted; Endoplasmic reticulum; Golgi apparatus; Endosome 0 0 0 2 4 2008-03-18 Q8NCK3 ZN485_HUMAN ZNF485 Zinc finger protein 485 441 50.3 10 Nucleus 0 0 0 1 4 2006-02-21 Q8NCV1 ADAD2_HUMAN ADAD2 Adenosine deaminase domain-containing protein 2 583 61.8 16 Nucleus; Cytoplasm 0 0 0 1 4 2007-11-13 Q8NDX9 LY65B_HUMAN LY6G5B Lymphocyte antigen 6 complex locus protein G5b 201 22.6 6 Secreted 0 0 0 1 4 2008-02-26 Q8NGH7 O52L1_HUMAN OR52L1 Olfactory receptor 52L1 329 36.3 11 Cell membrane 7 0 0 1 4 2003-10-10 Q8NGR2 OR1L6_HUMAN OR1L6 Olfactory receptor 1L6 347 39.5 9 Cell membrane 7 0 0 3 4 2003-10-10 Q8NGS2 OR1J2_HUMAN OR1J2 Olfactory receptor 1J2 313 35.4 9 Cell membrane 7 0 0 2 4 2003-10-10 Q8NGS8 O13C5_HUMAN OR13C5 Olfactory receptor 13C5 318 35.8 9 Cell membrane 7 0 0 2 4 2003-10-10 Q8NGX3 O10T2_HUMAN OR10T2 Olfactory receptor 10T2 314 35 1 Cell membrane 7 0 0 3 4 2003-10-10 Q8NH48 OR5B3_HUMAN OR5B3 Olfactory receptor 5B3 314 35.3 11 Cell membrane 7 0 0 3 4 2003-10-10 Q8TAA3 PSMA8_HUMAN PSMA8 Proteasome subunit alpha-type 8 256 28.5 18 Nucleus 0 0 0 1 4 2002-11-28 Q8TBF5 PIGX_HUMAN PIGX GPI alpha-1,4-mannosyltransferase I, stabilizing subunit 258 28.8 3 Endoplasmic reticulum membrane 1 0 0 1 4 2006-07-25 Q8TBH0 ARRD2_HUMAN ARRDC2 Arrestin domain-containing protein 2 407 44.4 19 0 0 0 1 4 2006-06-27 Q8TBZ0 CC110_HUMAN CCDC110 Coiled-coil domain-containing protein 110 833 96.7 4 Nucleus 0 0 0 1 4 2006-09-05 Q8TCD6 PHOP2_HUMAN PHOSPHO2 Pyridoxal phosphate phosphatase PHOSPHO2 241 27.8 2 3.1.3.74 0 0 0 1 4 2006-01-10 Q8TCW7 ZPLD1_HUMAN ZPLD1 Zona pellucida-like domain-containing protein 1 415 45.5 3 Cytoplasmic vesicle membrane 1 0 0 1 4 2007-10-23 Q8TD86 CALL6_HUMAN CALML6 Calmodulin-like protein 6 181 20.7 1 Cytoplasm; Nucleus 0 0 0 1 4 2005-11-08 Q8TD94 KLF14_HUMAN KLF14 Krueppel-like factor 14 323 33.1 7 Nucleus 0 0 0 1 4 2003-06-16 Q8TDN4 CABL1_HUMAN CABLES1 CDK5 and ABL1 enzyme substrate 1 633 67.6 18 Nucleus; Cytoplasm 0 0 0 1 4 2005-02-01 Q8WUT4 LRRN4_HUMAN LRRN4 Leucine-rich repeat neuronal protein 4 740 78.8 20 Membrane 1 0 0 1 4 2003-02-28 Q8WVE0 EFMT1_HUMAN EEF1AKMT1 EEF1A lysine methyltransferase 1 214 24.5 13 2.1.1.- Cytoplasm 0 0 0 1 4 2007-11-13 Q8WVF2 UCMA_HUMAN UCMA Unique cartilage matrix-associated protein 138 16.6 10 Secreted 0 0 0 1 4 2005-07-05 Q8WVI0 UQCC5_HUMAN UQCC5 Ubiquinol-cytochrome c reductase complex assembly factor 5 70 8.7 3 Mitochondrion inner membrane 1 0 0 1 4 2008-09-02 Q8WXB4 ZN606_HUMAN ZNF606 Zinc finger protein 606 792 91.8 19 Nucleus 0 0 0 1 4 2003-02-28 Q8WYQ4 CV015_HUMAN C22orf15 Uncharacterized protein C22orf15 148 16.5 22 0 0 0 1 4 2005-07-05 Q902F9 EN113_HUMAN HERVK_113 Endogenous retrovirus group K member 113 Env polyprotein 699 79.2 Cell membrane 1 0 0 1 4 2004-05-24 Q92664 TF3A_HUMAN GTF3A Transcription factor IIIA 365 41.5 13 Nucleus 0 0 0 1 4 1997-11-01 Q96A23 CPNE4_HUMAN CPNE4 Copine-4 557 62.4 3 0 0 0 1 4 2002-11-28 Q96AC6 KIFC2_HUMAN KIFC2 Kinesin-like protein KIFC2 838 90.1 8 Cytoplasm 0 0 0 1 4 2003-08-15 Q96BH3 ESPB1_HUMAN ELSPBP1 Epididymal sperm-binding protein 1 223 26.1 19 Secreted 0 0 0 1 4 2007-10-23 Q96BU1 S1PBP_HUMAN S100PBP S100P-binding protein 408 45.6 1 Nucleus 0 0 0 1 4 2008-02-05 Q96CG8 CTHR1_HUMAN CTHRC1 Collagen triple helix repeat-containing protein 1 243 26.2 8 Secreted 0 1 Barrett esophagus 0 1 4 2005-05-10 Q96DD7 SHSA4_HUMAN SHISA4 Protein shisa-4 197 21.5 1 Membrane 1 0 0 1 4 2006-10-31 Q96G75 RMD5B_HUMAN RMND5B E3 ubiquitin-protein transferase RMND5B 393 44.4 5 2.3.2.27 Cytoplasm 0 0 0 1 4 2003-02-28 Q96HQ2 XTBD1_HUMAN XTBD1 XRN2 binding domain-containing protein 1 116 13.2 5 0 0 0 1 4 2008-03-18 Q96IK0 TM101_HUMAN TMEM101 Transmembrane protein 101 257 28.8 17 Membrane 8 0 0 1 4 2006-06-27 Q96IQ7 VSIG2_HUMAN VSIG2 V-set and immunoglobulin domain-containing protein 2 327 34.3 11 Membrane 1 0 0 1 4 2005-06-21 Q96KS9 F167A_HUMAN FAM167A Protein FAM167A 214 24.2 8 0 0 0 1 4 2003-01-27 Q96KX2 CAZA3_HUMAN CAPZA3 F-actin-capping protein subunit alpha-3 299 35 12 Cytoplasm 0 0 0 1 4 2002-03-27 Q96LL3 FIMP_HUMAN FIMP1 Fertilization-influencing membrane protein 1 132 14.4 16 Cell membrane 1 0 0 1 4 2008-02-26 Q96LW2 KS6R_HUMAN RSKR Ribosomal protein S6 kinase-related protein 410 46.2 17 2.7.11.1 0 0 0 1 4 2006-10-03 Q96MB7 HARB1_HUMAN HARBI1 Putative nuclease HARBI1 349 39.1 11 3.1.-.- Nucleus; Cytoplasm 0 0 0 1 4 2006-12-12 Q96NU7 HUTI_HUMAN AMDHD1 Probable imidazolonepropionase 426 46.7 12 3.5.2.7 Cytoplasm 0 0 0 1 4 2007-04-03 Q96P50 ACAP3_HUMAN ACAP3 Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 3 834 92.5 1 0 0 0 1 4 2003-01-27 Q99218 AMELY_HUMAN AMELY Amelogenin, Y isoform 206 23.3 Y Secreted 0 0 0 1 4 1995-11-01 Q99742 NPAS1_HUMAN NPAS1 Neuronal PAS domain-containing protein 1 590 62.7 19 Nucleus 0 0 0 1 4 1998-12-15 Q9BQ61 TRIR_HUMAN TRIR Telomerase RNA component-interacting RNase 176 18.4 19 3.1.13.- 0 0 0 1 4 2007-03-20 Q9BQR3 PRS27_HUMAN PRSS27 Serine protease 27 290 31.9 16 3.4.21.- Secreted 0 0 0 1 4 2001-10-18 Q9BSH3 NICN1_HUMAN NICN1 Nicolin-1 213 24.2 3 Nucleus 0 0 0 1 4 2004-08-31 Q9BUG6 ZSA5A_HUMAN ZSCAN5A Zinc finger and SCAN domain-containing protein 5A 496 55.9 19 Nucleus 0 0 0 1 4 2004-11-23 Q9BUT9 MCRI2_HUMAN MCRIP2 MAPK regulated corepressor interacting protein 2 160 17.8 16 Cytoplasm; Nucleus 0 0 0 1 4 2007-02-06 Q9BV99 LRC61_HUMAN LRRC61 Leucine-rich repeat-containing protein 61 259 28 7 0 0 0 1 4 2006-05-30 Q9BXL5 HEMGN_HUMAN HEMGN Hemogen 484 55.3 9 Nucleus 0 0 0 1 4 2006-07-11 Q9BXT2 CCG6_HUMAN CACNG6 Voltage-dependent calcium channel gamma-6 subunit 260 28.1 19 Cell membrane 4 0 0 1 4 2002-05-10 Q9C009 FOXQ1_HUMAN FOXQ1 Forkhead box protein Q1 403 41.5 6 Nucleus 0 0 0 1 4 2003-01-27 Q9C0H6 KLHL4_HUMAN KLHL4 Kelch-like protein 4 718 80.2 X Cytoplasm 0 0 0 1 4 2001-09-26 Q9GZK4 OR2H1_HUMAN OR2H1 Olfactory receptor 2H1 316 35.3 6 Cell membrane 7 0 0 2 4 2001-06-20 Q9GZY4 COA1_HUMAN COA1 Cytochrome c oxidase assembly factor 1 homolog 146 16.7 7 Mitochondrion inner membrane 1 0 0 1 4 2007-03-06 Q9H094 NBPF3_HUMAN NBPF3 NBPF family member NBPF3 633 73 1 Cytoplasm 0 0 0 1 4 2007-05-29 Q9H1A7 RPB1C_HUMAN POLR2J3 DNA-directed RNA polymerase II subunit RPB11-b2 115 13.1 7 Nucleus 0 0 0 1 4 2008-02-05 Q9H2A3 NGN2_HUMAN NEUROG2 Neurogenin-2 272 28.6 4 Nucleus 0 0 0 1 4 2002-03-27 Q9H2C8 O51V1_HUMAN OR51V1 Olfactory receptor 51V1 321 36.7 11 Cell membrane 7 0 0 3 4 2005-12-20 Q9H339 O51B5_HUMAN OR51B5 Olfactory receptor 51B5 312 35.2 11 Cell membrane 7 0 0 2 4 2005-12-20 Q9H3G5 CPVL_HUMAN CPVL Probable serine carboxypeptidase CPVL 476 54.2 7 3.4.16.- 0 0 0 1 4 2003-02-28 Q9H4S2 GSX1_HUMAN GSX1 GS homeobox 1 264 27.9 13 Nucleus 0 0 0 1 4 2003-01-27 Q9H609 ZN576_HUMAN ZNF576 Zinc finger protein 576 170 18.9 19 Nucleus 0 0 0 1 4 2005-12-06 Q9H6A9 PCX3_HUMAN PCNX3 Pecanex-like protein 3 2034 222 11 Membrane 13 0 0 1 4 2008-04-29 Q9H898 ZMAT4_HUMAN ZMAT4 Zinc finger matrin-type protein 4 229 25.8 8 Nucleus 0 0 0 1 4 2007-08-21 Q9HA64 KT3K_HUMAN FN3KRP Ketosamine-3-kinase 309 34.4 17 2.7.1.172 0 0 0 1 4 2001-05-04 Q9HBQ8 GGA2B_HUMAN GOLGA2P5 Putative golgin subfamily A member 2B 144 15.5 0 0 0 5 4 2008-01-15 Q9HCI6 K1586_HUMAN KIAA1586 E3 SUMO-protein ligase KIAA1586 787 89.7 6 2.3.2.- 0 0 0 1 4 2008-02-26 Q9NPI7 KRCC1_HUMAN KRCC1 Lysine-rich coiled-coil protein 1 259 31 2 Nucleus 0 0 0 1 4 2007-10-02 Q9NS25 SPNXB_HUMAN SPANXB1 Sperm protein associated with the nucleus on the X chromosome B1 103 11.8 X Cytoplasm; Nucleus 0 0 0 1 4 2005-02-01 Q9NS26 SPNXA_HUMAN SPANXA1 Sperm protein associated with the nucleus on the X chromosome A 97 11 X Cytoplasm; Nucleus 0 0 0 1 4 2005-02-01 Q9NTK1 DEPP1_HUMAN DEPP1 Protein DEPP1 212 23.4 10 Cytoplasm; Peroxisome; Mitochondrion 0 0 0 1 4 2005-07-05 Q9NVR7 TBCC1_HUMAN TBCCD1 TBCC domain-containing protein 1 557 63.5 3 Cytoplasm 0 0 0 1 4 2007-10-02 Q9NXH3 PP14D_HUMAN PPP1R14D Protein phosphatase 1 regulatory subunit 14D 145 16.5 15 Cytoplasm 0 0 0 1 4 2004-11-09 Q9NXK6 PAQR5_HUMAN PAQR5 Membrane progestin receptor gamma 330 38 15 Cell membrane 7 0 0 1 4 2004-08-16 Q9NY57 ST32B_HUMAN STK32B Serine/threonine-protein kinase 32B 414 47.9 4 2.7.11.1 0 0 0 1 4 2006-04-18 Q9NYJ1 COA4_HUMAN COA4 Cytochrome c oxidase assembly factor 4 homolog, mitochondrial 87 10.1 11 Mitochondrion 0 0 0 1 4 2008-01-15 Q9NYS7 WSB2_HUMAN WSB2 WD repeat and SOCS box-containing protein 2 404 45.3 12 0 1 Luo-Agrawal neurodevelopmental syndrome 0 1 4 2002-05-10 Q9P299 COPZ2_HUMAN COPZ2 Coatomer subunit zeta-2 210 23.5 17 Cytoplasm; Endoplasmic reticulum-Golgi intermediate compartment membrane; Golgi apparatus membrane; Cytoplasmic vesicle 0 0 0 1 4 2002-05-10 Q9P2J9 PDP2_HUMAN PDP2 [Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 2, mitochondrial 529 60 16 3.1.3.43 Mitochondrion 0 0 0 1 4 2001-01-24 Q9P2N5 RBM27_HUMAN RBM27 RNA-binding protein 27 1060 118.7 5 Cytoplasm; Nucleus speckle 0 0 0 1 4 2007-01-23 Q9P2V4 LRIT1_HUMAN LRIT1 Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 1 623 68 10 Endoplasmic reticulum membrane; Cell projection 1 0 0 1 4 2003-09-26 Q9UBI9 HDC_HUMAN HECA Headcase protein homolog 543 58.8 6 0 0 0 1 4 2004-03-01 Q9UIE0 ZN230_HUMAN ZNF230 Zinc finger protein 230 474 54.5 19 Nucleus 0 0 0 1 4 2001-01-24 Q9UJK0 TSR3_HUMAN TSR3 18S rRNA aminocarboxypropyltransferase 312 33.6 16 2.5.1.157 Cytoplasm 0 0 0 1 4 2007-02-20 Q9UK11 ZN223_HUMAN ZNF223 Zinc finger protein 223 482 55.8 19 Nucleus 0 0 0 1 4 2000-12-01 Q9UKR8 TSN16_HUMAN TSPAN16 Tetraspanin-16 245 26.3 19 Membrane 4 0 0 1 4 2000-12-01 Q9ULK2 AT7L1_HUMAN ATXN7L1 Ataxin-7-like protein 1 861 91.5 7 0 0 0 1 4 2000-12-01 Q9ULS6 KCNS2_HUMAN KCNS2 Delayed-rectifier potassium channel regulatory subunit KCNS2 477 54.2 8 Cell membrane 6 0 0 1 4 2002-10-25 Q9UN70 PCDGK_HUMAN PCDHGC3 Protocadherin gamma-C3 934 101.1 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9UN71 PCDGG_HUMAN PCDHGB4 Protocadherin gamma-B4 923 99.9 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y2A4 ZN443_HUMAN ZNF443 Zinc finger protein 443 671 77.5 19 Nucleus 0 0 0 1 4 2003-05-09 Q9Y2G4 ANKR6_HUMAN ANKRD6 Ankyrin repeat domain-containing protein 6 727 80 6 0 0 0 1 4 2001-06-20 Q9Y2L6 FRM4B_HUMAN FRMD4B FERM domain-containing protein 4B 1034 118 3 Cytoplasm; Cell junction 0 0 0 1 4 2001-07-11 Q9Y471 CMAH_HUMAN CMAHP Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase 501 58.4 Cytoplasm 0 0 0 1 4 2005-05-10 Q9Y573 IPP_HUMAN IPP Actin-binding protein IPP 584 65.3 1 Cytoplasm 0 0 0 1 4 2001-04-27 Q9Y5E4 PCDB5_HUMAN PCDHB5 Protocadherin beta-5 795 86.4 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5E7 PCDB2_HUMAN PCDHB2 Protocadherin beta-2 798 87.3 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5F6 PCDGM_HUMAN PCDHGC5 Protocadherin gamma-C5 944 101.9 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5G8 PCDG5_HUMAN PCDHGA5 Protocadherin gamma-A5 931 100.9 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5H0 PCDG3_HUMAN PCDHGA3 Protocadherin gamma-A3 932 101 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5H4 PCDG1_HUMAN PCDHGA1 Protocadherin gamma-A1 931 101.2 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y651 SOX21_HUMAN SOX21 Transcription factor SOX-21 276 28.6 13 Nucleus 0 0 0 1 4 2000-05-30 A0A1B0GTQ4 MYMX_HUMAN MYMX Protein myomixer 84 9.6 6 Cell membrane 1 1 Carey-Fineman-Ziter syndrome 2 0 1 4 2017-09-27 A0PJZ3 GXLT2_HUMAN GXYLT2 Glucoside xylosyltransferase 2 443 51.1 3 2.4.2.42 Membrane 1 0 0 1 4 2007-05-29 A4D1S5 RAB19_HUMAN RAB19 Ras-related protein Rab-19 217 24.4 7 3.6.5.2 Cell membrane 0 0 0 1 4 2007-09-11 A6NDE4 RBY1B_HUMAN RBMY1B RNA-binding motif protein, Y chromosome, family 1 member B 496 55.8 Y Nucleus 0 0 0 2 4 2008-06-10 A6NFK2 GRCR2_HUMAN GRXCR2 Glutaredoxin domain-containing cysteine-rich protein 2 248 28.3 5 Cell projection 0 1 Deafness, autosomal recessive, 101 0 3 4 2008-09-02 A6NFR6 S31J1_HUMAN SPATA31J1 Protein SPATA31J1 353 39.3 5 Membrane 1 0 0 1 4 2008-07-01 A6NGB9 WIPF3_HUMAN WIPF3 WAS/WASL-interacting protein family member 3 483 49.5 7 Cytoplasm 0 0 0 1 4 2008-06-10 A6NI28 RHG42_HUMAN ARHGAP42 Rho GTPase-activating protein 42 874 98.6 11 0 0 0 1 4 2008-07-01 A6NL88 SHSA7_HUMAN SHISA7 Protein shisa-7 538 56.2 19 Postsynaptic density membrane 1 0 0 1 4 2008-07-22 A6NMB1 SIG16_HUMAN SIGLEC16 Sialic acid-binding Ig-like lectin 16 481 53 Membrane 1 0 0 2 4 2008-04-29 A6NMB9 FIGL2_HUMAN FIGNL2 Fidgetin-like protein 2 653 66.6 12 3.6.4.- Nucleus; Cytoplasm 0 0 0 1 4 2008-07-22 A6NND4 O2AT4_HUMAN OR2AT4 Olfactory receptor 2AT4 320 35.5 11 Cell membrane 7 0 0 1 4 2007-11-13 A6XGL0 YJEN3_HUMAN YJEFN3 YjeF N-terminal domain-containing protein 3 299 32.6 19 0 0 0 1 4 2008-09-02 A8K855 EFCB7_HUMAN EFCAB7 EF-hand calcium-binding domain-containing protein 7 629 72 1 Cell projection 0 0 0 1 4 2008-02-26 A8MPP1 D11L8_HUMAN DDX11L8 Putative ATP-dependent DNA helicase DDX11-like protein 8 907 101.8 5.6.2.- Nucleus 0 0 0 1 4 2008-09-02 I0J062 PANO1_HUMAN PANO1 Proapoptotic nucleolar protein 1 215 22.8 11 Nucleus 0 0 0 2 4 2015-02-04 O00570 SOX1_HUMAN SOX1 Transcription factor SOX-1 391 39 13 Nucleus 0 0 0 1 4 1997-11-01 O15321 TM9S1_HUMAN TM9SF1 Transmembrane 9 superfamily member 1 606 68.9 14 Lysosome membrane; Cytoplasmic vesicle 9 0 0 1 4 2001-04-27 O15375 MOT6_HUMAN SLC16A5 Monocarboxylate transporter 6 505 55 17 Cell membrane 12 0 0 1 4 2000-05-30 O43247 CMIP4_HUMAN CIMIP4 Ciliary microtubule inner protein 4 280 30.7 22 Cytoplasmic vesicle; Cell projection 0 0 0 1 4 2000-05-30 O43365 HXA3_HUMAN HOXA3 Homeobox protein Hox-A3 443 46.4 7 Nucleus 0 0 0 1 4 1999-07-15 O43736 ITM2A_HUMAN ITM2A Integral membrane protein 2A 263 29.7 X Membrane 1 0 0 1 4 1999-07-15 O43908 NKG2F_HUMAN KLRC4 NKG2-F type II integral membrane protein 158 18.2 12 Membrane 1 0 0 2 4 2002-05-15 O60279 SUSD5_HUMAN SUSD5 Sushi domain-containing protein 5 629 68 3 Membrane 1 0 0 1 4 2007-02-06 O60412 OR7C2_HUMAN OR7C2 Olfactory receptor 7C2 319 35.3 19 Cell membrane 7 0 0 1 4 2001-06-20 O60765 Z354A_HUMAN ZNF354A Zinc finger protein 354A 605 69.2 5 Nucleus 0 0 0 1 4 2000-05-30 O60774 FMO6_HUMAN FMO6P Putative dimethylaniline monooxygenase [N-oxide-forming] 6 539 61.3 Membrane 1 0 0 5 4 2003-02-12 O60811 PRAM2_HUMAN PRAMEF2 PRAME family member 2 474 54.9 1 0 0 0 2 4 2000-05-30 O75596 CLC3A_HUMAN CLEC3A C-type lectin domain family 3 member A 197 22.2 16 Secreted 0 0 0 1 4 2002-01-31 O75635 SPB7_HUMAN SERPINB7 Serpin B7 380 42.9 18 Cytoplasm 0 1 Keratoderma, palmoplantar, Nagashima type 0 1 4 2002-01-23 O76001 OR2J3_HUMAN OR2J3 Olfactory receptor 2J3 311 35 6 Cell membrane 7 0 0 1 4 2001-06-20 O94772 LY6H_HUMAN LY6H Lymphocyte antigen 6H 140 14.7 8 Cell membrane 0 0 0 1 4 2000-12-01 O94952 FBX21_HUMAN FBXO21 F-box only protein 21 628 72.3 12 0 0 0 1 4 2003-05-09 O94988 FA13A_HUMAN FAM13A Protein FAM13A 1023 116.9 4 0 0 0 1 4 2003-04-11 O95007 OR6B1_HUMAN OR6B1 Olfactory receptor 6B1 311 35.3 7 Cell membrane 7 0 0 1 4 2001-06-20 O95084 PRS23_HUMAN PRSS23 Serine protease 23 383 43 11 3.4.21.- Secreted 0 0 0 1 4 2002-04-16 O95625 ZBT11_HUMAN ZBTB11 Zinc finger and BTB domain-containing protein 11 1053 119.4 3 Nucleus 0 1 Neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities 0 1 4 2004-08-16 O95755 RAB36_HUMAN RAB36 Ras-related protein Rab-36 267 29.7 22 3.6.5.2 Golgi apparatus membrane 0 0 0 1 4 1999-07-15 O95757 HS74L_HUMAN HSPA4L Heat shock 70 kDa protein 4L 839 94.5 4 Cytoplasm; Nucleus 0 0 0 1 4 2000-05-30 P01566 IFN10_HUMAN IFNA10 Interferon alpha-10 189 21.8 9 Secreted 0 0 0 1 4 1986-07-21 P01599 KV117_HUMAN IGKV1-17 Immunoglobulin kappa variable 1-17 117 12.8 2 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01715 LV301_HUMAN IGLV3-1 Immunoglobulin lambda variable 3-1 115 12.3 22 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01717 LV325_HUMAN IGLV3-25 Immunoglobulin lambda variable 3-25 112 12 22 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01763 HV348_HUMAN IGHV3-48 Immunoglobulin heavy variable 3-48 117 12.8 14 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P04211 LV743_HUMAN IGLV7-43 Immunoglobulin lambda variable 7-43 117 12.5 22 Secreted; Cell membrane 0 0 0 1 4 1987-03-20 P05015 IFN16_HUMAN IFNA16 Interferon alpha-16 189 21.7 9 Secreted 0 0 0 1 4 1987-08-13 P09105 HBAT_HUMAN HBQ1 Hemoglobin subunit theta-1 142 15.5 16 0 0 0 1 4 1989-07-01 P0C7M3 SFTA3_HUMAN SFTA3 Surfactant-associated protein 3 94 10.5 14 Cytoplasm; Secreted 0 0 0 1 4 2008-06-10 P0C8F1 PATE4_HUMAN PATE4 Prostate and testis expressed protein 4 98 11.4 11 Secreted; Cytoplasmic vesicle 0 0 0 1 4 2008-11-25 P0CG13 CTF8_HUMAN CHTF8 Chromosome transmission fidelity protein 8 homolog 121 13.3 16 Nucleus 0 0 0 1 4 2010-06-15 P0CG39 POTEJ_HUMAN POTEJ POTE ankyrin domain family member J 1038 117.4 2 0 0 0 1 4 2010-07-13 P0DJ07 PT100_HUMAN PET100 Protein PET100 homolog, mitochondrial 73 9.1 19 Membrane; Mitochondrion; Mitochondrion inner membrane 1 1 Mitochondrial complex IV deficiency, nuclear type 12 0 1 4 2011-10-19 P0DMP2 SRG2B_HUMAN SRGAP2B SLIT-ROBO Rho GTPase-activating protein 2B 458 53.4 1 0 0 0 1 4 2014-10-01 P0DOX4 IGE_HUMAN Immunoglobulin epsilon heavy chain 547 60.3 Secreted; Cell membrane 0 0 0 1 4 2017-03-15 P0DUQ2 PRAM9_HUMAN PRAMEF9 PRAME family member 9 478 55.4 1 0 0 0 1 4 2021-09-29 P0DW28 MNS60_HUMAN RBM10 Ribosome biogenesis inhibitor MINAS-60 130 14.2 X Nucleus 0 0 0 1 4 2022-08-03 P17032 ZN37A_HUMAN ZNF37A Zinc finger protein 37A 561 65.4 10 Nucleus 0 0 0 1 4 1990-08-01 P17039 ZNF30_HUMAN ZNF30 Zinc finger protein 30 623 71.4 19 Nucleus 0 0 0 1 4 1990-08-01 P17098 ZNF8_HUMAN ZNF8 Zinc finger protein 8 575 65 19 Nucleus 0 0 0 1 4 1990-08-01 P19961 AMY2B_HUMAN AMY2B Alpha-amylase 2B 511 57.7 1 3.2.1.1 Secreted 0 0 0 1 4 1991-02-01 P22532 SPR2D_HUMAN SPRR2D Small proline-rich protein 2D 72 7.9 1 Cytoplasm 0 0 0 1 4 1991-08-01 P22676 CALB2_HUMAN CALB2 Calretinin 271 31.5 16 Synapse; Cell projection 0 0 0 1 4 1991-08-01 P30954 O10J1_HUMAN OR10J1 Olfactory receptor 10J1 320 35.9 1 Cell membrane 7 0 0 2 4 1993-07-01 P36915 GNL1_HUMAN GNL1 Guanine nucleotide-binding protein-like 1 607 68.7 6 0 0 0 1 4 1994-06-01 P40313 CTRL_HUMAN CTRL Chymotrypsin-like protease CTRL-1 264 28 16 3.4.21.- 0 0 0 1 4 1995-02-01 P47874 OMP_HUMAN OMP Olfactory marker protein 163 18.9 11 Cytoplasm 0 0 0 1 4 1996-02-01 P47883 OR3A4_HUMAN OR3A4P Putative olfactory receptor 3A4 348 37.2 Cell membrane 7 0 0 5 4 1996-02-01 P47888 OR3A3_HUMAN OR3A3 Olfactory receptor 3A3 321 35 17 Cell membrane 7 0 0 2 4 1996-02-01 P47972 NPTX2_HUMAN NPTX2 Neuronal pentraxin-2 431 47 7 Secreted 0 0 0 1 4 1996-02-01 P55808 XG_HUMAN XG Glycoprotein Xg 180 19.7 X Cell membrane 1 0 0 1 4 1997-11-01 P58557 YBEY_HUMAN YBEY Endoribonuclease YbeY 167 19.3 21 3.1.-.- Nucleus 0 0 0 1 4 2002-01-23 P59646 FXYD4_HUMAN FXYD4 FXYD domain-containing ion transport regulator 4 89 9.4 10 Cell membrane; Basolateral cell membrane 1 0 0 1 4 2003-04-30 P59797 SELV_HUMAN SELENOV Selenoprotein V 346 36.8 19 0 0 0 1 4 2003-08-04 P59826 BPIB3_HUMAN BPIFB3 BPI fold-containing family B member 3 472 49.9 20 Secreted; Cytoplasm 0 0 0 1 4 2003-08-29 P60153 RNAS9_HUMAN RNASE9 Inactive ribonuclease-like protein 9 205 24.3 14 Secreted 0 0 0 1 4 2003-11-28 P61550 ENVT1_HUMAN ERVS71-1 Endogenous retrovirus group S71 member 1 Env polyprotein 626 68.2 19 Cell membrane 1 0 0 1 4 2004-05-24 P63313 TYB10_HUMAN TMSB10 Thymosin beta-10 44 5 2 Cytoplasm 0 0 0 1 4 2004-10-11 P81133 SIM1_HUMAN SIM1 Single-minded homolog 1 766 85.5 6 Nucleus 0 0 0 1 4 1998-07-15 P87889 GAK10_HUMAN ERVK-10 Endogenous retrovirus group K member 10 Gag polyprotein 666 74.1 Cell membrane 0 0 0 1 4 2004-07-19 Q00888 PSG4_HUMAN PSG4 Pregnancy-specific beta-1-glycoprotein 4 419 47.1 19 Secreted 0 0 0 1 4 1996-10-01 Q01995 TAGL_HUMAN TAGLN Transgelin 201 22.6 11 Cytoplasm 0 0 0 1 4 1993-04-01 Q05DH4 FHI1A_HUMAN FHIP1A FHF complex subunit HOOK-interacting protein 1A 1040 116.6 4 0 0 0 1 4 2008-02-26 Q08ER8 ZN543_HUMAN ZNF543 Zinc finger protein 543 600 68.4 19 Nucleus 0 0 0 1 4 2007-05-15 Q12796 PNRC1_HUMAN PNRC1 Proline-rich nuclear receptor coactivator 1 327 35.2 6 Nucleus 0 0 0 1 4 2002-06-06 Q12950 FOXD4_HUMAN FOXD4 Forkhead box protein D4 439 47.3 9 Nucleus 0 0 0 1 4 1997-11-01 Q13203 MYBPH_HUMAN MYBPH Myosin-binding protein H 477 52.1 1 0 0 0 1 4 1999-07-15 Q13607 OR2F1_HUMAN OR2F1 Olfactory receptor 2F1 317 35.4 7 Cell membrane 7 0 0 2 4 1997-11-01 Q14206 RCAN2_HUMAN RCAN2 Calcipressin-2 197 22 6 0 0 0 1 4 2000-05-30 Q14576 ELAV3_HUMAN ELAVL3 ELAV-like protein 3 367 39.5 19 0 0 0 1 4 1998-12-15 Q15198 PGFRL_HUMAN PDGFRL Platelet-derived growth factor receptor-like protein 375 41.9 8 Secreted 0 1 Colorectal cancer 0 1 4 2006-05-02 Q15238 PSG5_HUMAN PSG5 Pregnancy-specific beta-1-glycoprotein 5 335 37.7 19 Secreted 0 0 0 1 4 2000-05-30 Q17RF5 ODAPH_HUMAN ODAPH Odontogenesis associated phosphoprotein 130 15.6 4 Secreted 0 1 Amelogenesis imperfecta, hypomaturation type, 2A4 0 1 4 2007-09-11 Q17RH7 TPRXL_HUMAN TPRXL Tetra-peptide repeat homeobox-like protein 139 17.3 Nucleus 0 0 0 1 4 2008-01-15 Q1ZZU3 SWI5_HUMAN SWI5 DNA repair protein SWI5 homolog 235 26.7 9 Nucleus 0 0 0 1 4 2008-03-18 Q24JQ0 S35D4_HUMAN SLC35D4 UDP-N-acetylglucosamine transporter SLC35D4 296 32.6 18 Golgi apparatus 10 0 0 1 4 2007-10-23 Q2L4Q9 PRS53_HUMAN PRSS53 Serine protease 53 553 58.4 16 3.4.21.- Secreted 0 0 0 1 4 2008-02-05 Q2MJR0 SPRE3_HUMAN SPRED3 Sprouty-related, EVH1 domain-containing protein 3 410 42.7 19 Cell membrane 0 0 0 1 4 2006-07-25 Q2NKX9 CB068_HUMAN C2orf68 UPF0561 protein C2orf68 166 18.8 2 0 0 0 1 4 2008-04-08 Q2PZI1 D19L1_HUMAN DPY19L1 Protein C-mannosyl-transferase DPY19L1 675 77.3 7 2.4.1.- Endoplasmic reticulum membrane 11 0 0 1 4 2007-12-04 Q2TAP0 GOG7B_HUMAN GOLGA7B Golgin subfamily A member 7B 167 18.3 10 Cell membrane; Golgi apparatus membrane 0 0 0 1 4 2006-06-27 Q2TBC4 PRIC4_HUMAN PRICKLE4 Prickle-like protein 4 344 37.6 6 0 0 0 1 4 2006-04-04 Q2VYF4 LETM2_HUMAN LETM2 LETM1 domain-containing protein LETM2, mitochondrial 491 55.9 8 Mitochondrion inner membrane 1 0 0 1 4 2007-10-23 Q30KP8 DB136_HUMAN DEFB136 Defensin beta 136 78 8.8 8 Secreted 0 0 0 3 4 2005-12-20 Q494W8 CRFM7_HUMAN CHRFAM7A CHRNA7-FAM7A fusion protein 412 46.2 15 Membrane 5 0 0 1 4 2006-04-04 Q4V339 ZNG1F_HUMAN ZNG1F Zinc-regulated GTPase metalloprotein activator 1F 395 44 9 3.6.5.- Nucleus 0 0 0 1 4 2008-02-05 Q53GA4 PHLA2_HUMAN PHLDA2 Pleckstrin homology-like domain family A member 2 152 17.1 11 Cytoplasm; Membrane 0 0 0 1 4 2005-12-20 Q53T59 H1BP3_HUMAN HS1BP3 HCLS1-binding protein 3 392 42.8 2 0 0 0 1 4 2008-01-15 Q562R1 ACTBL_HUMAN ACTBL2 Beta-actin-like protein 2 376 42 5 Cytoplasm 0 0 0 1 4 2008-02-26 Q5BKT4 AG10A_HUMAN ALG10 Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase A 473 55.6 12 2.4.1.256 Endoplasmic reticulum membrane 12 0 0 1 4 2005-11-08 Q5FWE3 PRRT3_HUMAN PRRT3 Proline-rich transmembrane protein 3 981 102.2 3 Membrane 7 0 0 1 4 2006-10-03 Q5FWF6 ZN789_HUMAN ZNF789 Zinc finger protein 789 425 50 7 Nucleus 0 0 0 1 4 2007-07-10 Q5GAN6 RNS10_HUMAN RNASE10 Inactive ribonuclease-like protein 10 216 24 14 Secreted 0 0 0 1 4 2006-02-07 Q5H9U9 DDX6L_HUMAN DDX60L Probable ATP-dependent RNA helicase DDX60-like 1706 197.6 4 3.6.4.13 0 0 0 1 4 2008-02-05 Q5J5C9 DB121_HUMAN DEFB121 Beta-defensin 121 76 8.5 20 Secreted 0 0 0 1 4 2005-03-15 Q5JRM2 CX066_HUMAN CXorf66 Uncharacterized protein CXorf66 361 39.9 X Membrane 1 0 0 1 4 2008-09-02 Q5JUW0 KRBD4_HUMAN KRABD4 KRAB domain-containing protein 4 171 20.1 X 0 0 0 1 4 2006-05-02 Q5TDP6 LGSN_HUMAN LGSN Lengsin 509 57.3 6 0 0 0 1 4 2005-02-01 Q5TF39 S60A2_HUMAN SLC60A2 Solute carrier family 60 member 2 518 56.2 6 Apical cell membrane 12 0 0 1 4 2007-07-10 Q5TH74 STPG1_HUMAN STPG1 O(6)-methylguanine-induced apoptosis 2 334 36.8 1 Cytoplasm; Nucleus 0 0 0 1 4 2007-10-02 Q5TYM5 FA72A_HUMAN FAM72A Protein FAM72A 149 16.6 1 Cytoplasm; Mitochondrion 0 0 0 1 4 2008-06-10 Q5VWW1 C1QL3_HUMAN C1QL3 Complement C1q-like protein 3 255 26.7 10 Secreted 0 0 0 1 4 2007-02-06 Q5VYS4 MEDAG_HUMAN MEDAG Mesenteric estrogen-dependent adipogenesis protein 303 34.2 13 Cytoplasm 0 0 0 1 4 2007-02-06 Q5XG92 EST4A_HUMAN CES4A Carboxylesterase 4A 561 63.5 16 3.1.1.- Secreted 0 0 0 1 4 2008-03-18 Q68DY1 ZN626_HUMAN ZNF626 Zinc finger protein 626 528 60.9 19 Nucleus 0 0 0 1 4 2007-01-09 Q69YU5 UQCC6_HUMAN UQCC6 Ubiquinol-cytochrome c reductase complex assembly factor 6 71 8 12 Mitochondrion inner membrane 1 0 0 1 4 2008-06-10 Q6A1A2 PDPK2_HUMAN PDPK2P Putative 3-phosphoinositide-dependent protein kinase 2 396 44.8 2.7.11.1 Cytoplasm; Membrane 0 0 0 5 4 2008-07-01 Q6IAN0 PEXRP_HUMAN DHRS7B Peroxisomal reductase activating PPAR-gamma 325 35.1 17 1.1.1.101 Peroxisome membrane; Endoplasmic reticulum membrane; Nucleus 1 0 0 1 4 2007-12-04 Q6NXE6 ARMC6_HUMAN ARMC6 Armadillo repeat-containing protein 6 501 54.1 19 0 0 0 1 4 2006-06-27 Q6NY19 KANK3_HUMAN KANK3 KN motif and ankyrin repeat domain-containing protein 3 821 85.9 19 0 0 0 1 4 2006-06-27 Q6P4E1 GOLM2_HUMAN GOLM2 Protein GOLM2 436 49.5 15 Membrane 1 0 0 1 4 2007-06-26 Q6PII3 CC174_HUMAN CCDC174 Coiled-coil domain-containing protein 174 467 54 3 Nucleus 0 1 Hypotonia, infantile, with psychomotor retardation 0 1 4 2006-10-03 Q6UWM7 LCTL_HUMAN LCTL Lactase-like protein 567 65.1 15 Endoplasmic reticulum membrane 1 0 0 1 4 2005-10-11 Q6UWM9 UD2A3_HUMAN UGT2A3 UDP-glucuronosyltransferase 2A3 527 60.3 4 2.4.1.17 Membrane 1 0 0 1 4 2007-08-21 Q6UXC1 AEGP_HUMAN MAMDC4 Apical endosomal glycoprotein 1216 131.5 9 Membrane 1 0 0 1 4 2007-05-15 Q6UXI7 VITRN_HUMAN VIT Vitrin 678 73.9 2 Secreted 0 0 0 1 4 2006-09-05 Q6ZMD2 SPNS3_HUMAN SPNS3 Protein spinster homolog 3 512 54.8 17 Membrane 12 0 0 1 4 2007-10-02 Q6ZNB6 NFXL1_HUMAN NFXL1 NF-X1-type zinc finger protein NFXL1 911 101.3 4 Membrane 1 0 0 1 4 2007-03-06 Q6ZS81 WDFY4_HUMAN WDFY4 WD repeat- and FYVE domain-containing protein 4 3184 353.6 10 Early endosome; Endoplasmic reticulum 0 0 0 1 4 2006-10-03 Q6ZUX7 LHPL2_HUMAN LHFPL2 LHFPL tetraspan subfamily member 2 protein 228 24.5 5 Membrane 4 0 0 1 4 2006-06-27 Q6ZWJ8 KCP_HUMAN KCP Kielin/chordin-like protein 1568 166.9 7 Secreted 0 0 0 1 4 2008-02-05 Q701N2 KRA55_HUMAN KRTAP5-5 Keratin-associated protein 5-5 237 21.4 11 0 0 0 1 4 2004-12-21 Q76KP1 B4GN4_HUMAN B4GALNT4 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1 1039 116.5 11 2.4.1.244 Golgi apparatus 1 0 0 1 4 2006-10-17 Q7L0R7 RNF44_HUMAN RNF44 RING finger protein 44 432 47.7 5 0 0 0 1 4 2007-01-23 Q7Z398 ZN550_HUMAN ZNF550 Zinc finger protein 550 422 48.4 19 Nucleus 0 0 0 1 4 2006-05-16 Q7Z3T1 OR2W3_HUMAN OR2W3 Olfactory receptor 2W3 314 34.8 1 Cell membrane 7 0 0 2 4 2005-07-19 Q7Z402 TMC7_HUMAN TMC7 Transmembrane channel-like protein 7 723 83.5 16 Membrane 9 0 0 1 4 2007-05-15 Q7Z444 RASE_HUMAN ERAS GTPase ERas 233 25.3 X 3.6.5.2 Cell membrane 0 0 0 1 4 2006-07-25 Q86SP6 GP149_HUMAN GPR149 Probable G protein-coupled receptor 149 731 81 3 Cell membrane 7 0 0 1 4 2005-12-20 Q86UA1 PRP39_HUMAN PRPF39 Pre-mRNA-processing factor 39 669 78.4 14 Nucleus 0 0 0 1 4 2006-10-31 Q86UE3 ZN546_HUMAN ZNF546 Zinc finger protein 546 836 98.4 19 Nucleus 0 0 0 1 4 2006-05-16 Q86W28 NALP8_HUMAN NLRP8 NACHT, LRR and PYD domains-containing protein 8 1048 119.4 19 Cytoplasm 0 0 0 2 4 2007-04-03 Q86WN2 IFNE_HUMAN IFNE Interferon epsilon 208 24.4 9 Secreted 0 0 0 1 4 2008-02-05 Q86WS3 OOSP2_HUMAN OOSP2 Oocyte-secreted protein 2 158 18 11 Secreted; Cytoplasm 0 0 0 1 4 2006-10-03 Q86YL5 TDRP_HUMAN TDRP Testis development-related protein 185 20.4 8 Nucleus; Cytoplasm 0 0 0 1 4 2007-10-23 Q86YQ8 CPNE8_HUMAN CPNE8 Copine-8 564 63.1 12 0 0 0 1 4 2004-01-16 Q8IUC0 KR131_HUMAN KRTAP13-1 Keratin-associated protein 13-1 172 18.3 21 0 0 0 1 4 2003-07-19 Q8IUK8 CBLN2_HUMAN CBLN2 Cerebellin-2 224 24.1 18 Secreted 0 0 0 1 4 2004-04-13 Q8IUR0 TPPC5_HUMAN TRAPPC5 Trafficking protein particle complex subunit 5 188 20.8 19 Golgi apparatus; Endoplasmic reticulum 0 0 0 1 4 2005-07-19 Q8IV01 SYT12_HUMAN SYT12 Synaptotagmin-12 421 46.5 11 Cytoplasmic vesicle 1 0 0 1 4 2003-07-19 Q8IV13 CCNJL_HUMAN CCNJL Cyclin-J-like protein 435 48.4 5 0 0 0 1 4 2007-11-13 Q8IWF6 DEN6A_HUMAN DENND6A Protein DENND6A 608 69.6 3 Recycling endosome; Cytoplasm 0 0 0 1 4 2007-05-29 Q8IYJ1 CPNE9_HUMAN CPNE9 Copine-9 553 61.9 3 0 0 0 1 4 2007-02-06 Q8IYT1 GAR4_HUMAN GARIN4 Golgi-associated RAB2 interactor protein 4 594 63.2 1 Golgi apparatus 0 0 0 1 4 2006-11-28 Q8IYX0 ZN679_HUMAN ZNF679 Zinc finger protein 679 411 47.2 7 Nucleus 0 0 0 1 4 2006-05-02 Q8IZ26 ZNF34_HUMAN ZNF34 Zinc finger protein 34 560 64 8 Nucleus 0 0 0 1 4 2004-11-23 Q8IZJ4 RGDSR_HUMAN RGL4 Ral-GDS-related protein 473 52.3 22 Cytoplasmic vesicle 0 0 0 1 4 2003-08-22 Q8N111 CEND_HUMAN CEND1 Cell cycle exit and neuronal differentiation protein 1 149 15 11 Membrane 1 0 0 1 4 2003-02-12 Q8N292 GAPT_HUMAN GAPT Protein GAPT 157 17.9 5 Cell membrane 1 0 0 1 4 2007-01-09 Q8N2G8 GHDC_HUMAN GHDC GH3 domain-containing protein 530 57.5 17 Endoplasmic reticulum; Nucleus envelope 0 0 0 1 4 2004-07-19 Q8N2H3 PYRD2_HUMAN PYROXD2 Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2 581 63.1 10 1.-.-.- Mitochondrion matrix 0 0 0 1 4 2006-06-27 Q8N323 NXPE1_HUMAN NXPE1 NXPE family member 1 547 63.2 11 Secreted 0 0 0 1 4 2007-10-23 Q8N393 ZN786_HUMAN ZNF786 Zinc finger protein 786 782 89.8 7 Nucleus 0 0 0 1 4 2007-07-10 Q8N475 FSTL5_HUMAN FSTL5 Follistatin-related protein 5 847 95.8 4 Secreted 0 0 0 1 4 2005-04-12 Q8N5C7 DTWD1_HUMAN DTWD1 tRNA-uridine aminocarboxypropyltransferase 1 304 35.2 15 2.5.1.25 Nucleus 0 0 0 1 4 2007-10-23 Q8N5H3 LRA25_HUMAN FAM89B Leucine repeat adapter protein 25 189 20.1 11 Cytoplasm; Cell projection 0 0 0 1 4 2007-01-09 Q8N628 OR2C3_HUMAN OR2C3 Olfactory receptor 2C3 320 35.4 1 Cell membrane 7 0 0 2 4 2003-09-26 Q8N729 NPW_HUMAN NPW Neuropeptide W 165 18 16 Secreted 0 0 0 1 4 2003-07-25 Q8N7B9 EFCB3_HUMAN EFCAB3 EF-hand calcium-binding domain-containing protein 3 438 50.1 17 0 0 0 1 4 2006-10-17 Q8N7M2 ZN283_HUMAN ZNF283 Zinc finger protein 283 679 77.9 19 Nucleus 0 0 0 1 4 2003-11-07 Q8N954 GPT11_HUMAN GPATCH11 G patch domain-containing protein 11 285 33.3 2 Chromosome 0 0 0 1 4 2007-03-06 Q8N9L1 ZIC4_HUMAN ZIC4 Zinc finger protein ZIC 4 334 36.6 3 Nucleus 0 0 0 1 4 2003-02-22 Q8NBR0 P5I13_HUMAN TP53I13 Tumor protein p53-inducible protein 13 393 42.2 17 Cell membrane; Cytoplasm 1 0 0 1 4 2008-05-20 Q8NDV2 GPR26_HUMAN GPR26 G protein-coupled receptor 26 337 37.6 10 Cell membrane 7 0 0 1 4 2003-10-03 Q8NEB7 ACRBP_HUMAN ACRBP Acrosin-binding protein 543 61.4 12 Secreted; Cytoplasmic vesicle 0 0 0 1 4 2006-03-07 Q8NEC7 GSTCD_HUMAN GSTCD Glutathione S-transferase C-terminal domain-containing protein 633 71.1 4 Cytoplasm 0 0 0 1 4 2008-02-05 Q8NEG4 SCK1F_HUMAN SACK1F Scaffolding CK1 anchoring protein F 500 55.5 22 Cell membrane 0 0 0 1 4 2008-01-15 Q8NEN0 ARMC2_HUMAN ARMC2 Armadillo repeat-containing protein 2 867 96.9 6 0 1 Spermatogenic failure 38 0 1 4 2007-04-17 Q8NFJ8 BHE22_HUMAN BHLHE22 Class E basic helix-loop-helix protein 22 381 37 8 Nucleus 0 0 0 1 4 2007-02-06 Q8NG48 LINES_HUMAN LINS1 Protein Lines homolog 1 757 85.9 15 0 1 Intellectual developmental disorder, autosomal recessive 27 0 1 4 2008-02-05 Q8NGE3 O10P1_HUMAN OR10P1 Olfactory receptor 10P1 313 34.7 12 Cell membrane 7 0 0 2 4 2004-08-16 Q8NH94 OR1L1_HUMAN OR1L1 Olfactory receptor 1L1 360 41 9 Cell membrane 7 0 0 3 4 2003-10-10 Q8TAG6 VEXIN_HUMAN VXN Vexin 207 22.6 8 Cell membrane; Nucleus 0 0 0 1 4 2007-01-09 Q8TBP0 TBC16_HUMAN TBC1D16 TBC1 domain family member 16 767 86.4 17 0 0 0 1 4 2005-02-15 Q8TDE3 RNAS8_HUMAN RNASE8 Ribonuclease 8 154 17 14 3.1.27.- Secreted 0 0 0 1 4 2002-10-10 Q8TF68 ZN384_HUMAN ZNF384 Zinc finger protein 384 577 63.2 12 Nucleus 0 0 0 1 4 2003-02-28 Q8WV37 ZN480_HUMAN ZNF480 Zinc finger protein 480 535 61.7 19 Nucleus 0 0 0 1 4 2005-11-22 Q8WV48 CC107_HUMAN CCDC107 Coiled-coil domain-containing protein 107 283 30.5 9 Membrane 1 0 0 1 4 2007-04-03 Q8WV83 S35F5_HUMAN SLC35F5 Solute carrier family 35 member F5 523 58.9 2 Membrane 10 0 0 1 4 2007-12-04 Q8WW14 SMIP5_HUMAN SPMIP5 Sperm-associated microtubule inner protein 5 234 26.3 10 Cytoplasm; Nucleus 0 0 0 1 4 2005-07-05 Q8WWY7 WFD12_HUMAN WFDC12 WAP four-disulfide core domain protein 12 111 12.1 20 Secreted 0 0 0 1 4 2002-10-19 Q8WXA2 PATE1_HUMAN PATE1 Prostate and testis expressed protein 1 126 14.3 11 Secreted 0 0 0 1 4 2008-02-05 Q8WYN3 CSRN3_HUMAN CSRNP3 Cysteine/serine-rich nuclear protein 3 585 64.9 2 Nucleus 0 0 0 1 4 2002-10-25 Q8WZ84 OR8D1_HUMAN OR8D1 Olfactory receptor 8D1 308 34.4 11 Cell membrane 7 0 0 2 4 2002-05-10 Q8WZ92 OR5P2_HUMAN OR5P2 Olfactory receptor 5P2 322 35.8 11 Cell membrane 7 0 0 2 4 2002-05-10 Q92771 DDX12_HUMAN DDX12P Putative ATP-dependent DNA helicase DDX12 950 106 5.6.2.- Nucleus 0 0 0 5 4 2007-10-23 Q92914 FGF11_HUMAN FGF11 Fibroblast growth factor 11 225 25 17 0 0 0 1 4 1997-11-01 Q969I3 GLYL1_HUMAN GLYATL1 Glycine N-acyltransferase-like protein 1 302 35.1 11 2.3.1.68 0 0 0 1 4 2007-04-03 Q96A00 PP14A_HUMAN PPP1R14A Protein phosphatase 1 regulatory subunit 14A 147 16.7 19 Cytoplasm 0 0 0 1 4 2004-11-09 Q96A04 TSACC_HUMAN TSACC TSSK6-activating co-chaperone protein 125 13.7 1 0 0 0 1 4 2007-01-09 Q96A05 VATE2_HUMAN ATP6V1E2 V-type proton ATPase subunit E 2 226 26.1 2 0 0 0 1 4 2007-04-03 Q96A99 PTX4_HUMAN PTX4 Pentraxin-4 478 52.3 16 Secreted 0 0 0 2 4 2008-02-26 Q96C28 ZN707_HUMAN ZNF707 Zinc finger protein 707 371 43.1 8 Nucleus 0 0 0 1 4 2006-05-02 Q96CH1 GP146_HUMAN GPR146 G protein-coupled receptor 146 333 36.6 7 Cell membrane 7 0 0 1 4 2005-06-07 Q96F05 CK024_HUMAN C11orf24 Uncharacterized protein C11orf24 449 46.1 11 Cell membrane; Golgi apparatus 1 0 0 1 4 2006-10-03 Q96FC7 PHIPL_HUMAN PHYHIPL Phytanoyl-CoA hydroxylase-interacting protein-like 376 42.5 10 0 0 0 1 4 2008-06-10 Q96FV2 SCRN2_HUMAN SCRN2 Secernin-2 425 46.6 17 0 0 0 1 4 2006-11-28 Q96HJ9 FMC1_HUMAN FMC1 Protein FMC1 homolog 113 12.7 7 Mitochondrion 0 0 0 1 4 2008-04-08 Q96HQ0 ZN419_HUMAN ZNF419 Zinc finger protein 419 510 58.6 19 Nucleus 0 0 0 1 4 2005-11-08 Q96I82 KAZD1_HUMAN KAZALD1 Kazal-type serine protease inhibitor domain-containing protein 1 304 32.9 10 Secreted 0 0 0 1 4 2005-07-05 Q96ID5 IGS21_HUMAN IGSF21 Immunoglobulin superfamily member 21 467 51.8 1 Postsynaptic cell membrane 0 0 0 1 4 2006-02-21 Q96LU7 MRFL_HUMAN MYRFL Myelin regulatory factor-like protein 910 101.7 12 Membrane 1 0 0 1 4 2006-10-03 Q96LY2 CC74B_HUMAN CCDC74B Coiled-coil domain-containing protein 74B 380 41.8 2 0 0 0 1 4 2007-02-06 Q96MI6 PPM1M_HUMAN PPM1M Protein phosphatase 1M 459 51.1 3 3.1.3.16 Nucleus 0 0 0 1 4 2004-02-02 Q96N06 SPT33_HUMAN SPATA33 Spermatogenesis-associated protein 33 139 15.5 16 Cytoplasm; Nucleus; Mitochondrion 0 0 0 1 4 2007-04-03 Q96NG5 ZN558_HUMAN ZNF558 Zinc finger protein 558 402 45.8 19 Nucleus 0 0 0 1 4 2005-07-05 Q96NL1 TMM74_HUMAN TMEM74 Transmembrane protein 74 305 33.3 8 Lysosome membrane; Cytoplasmic vesicle 2 0 0 1 4 2006-10-31 Q96NU0 CNT3B_HUMAN CNTNAP3B Contactin-associated protein-like 3B 1288 140.4 9 Membrane 1 0 0 1 4 2008-06-10 Q96NX9 DACH2_HUMAN DACH2 Dachshund homolog 2 599 65.3 X Nucleus 0 0 0 1 4 2004-03-01 Q96QR1 SG3A1_HUMAN SCGB3A1 Secretoglobin family 3A member 1 104 10.1 5 Secreted 0 0 0 1 4 2002-01-23 Q96QU6 1A1L1_HUMAN ACCS 1-aminocyclopropane-1-carboxylate synthase-like protein 1 501 57.3 11 0 0 0 1 4 2008-02-05 Q96RK1 CITE4_HUMAN CITED4 Cbp/p300-interacting transactivator 4 184 18.6 1 Nucleus; Cytoplasm 0 0 0 1 4 2006-05-02 Q96S79 RSLAB_HUMAN RASL10B Ras-like protein family member 10B 203 23.2 17 3.6.5.2 Cell membrane 0 0 0 1 4 2007-03-20 Q96SM3 CPXM1_HUMAN CPXM1 Probable carboxypeptidase X1 734 81.7 20 3.4.17.- Secreted 0 0 0 1 4 2002-10-10 Q96SR6 ZN382_HUMAN ZNF382 Zinc finger protein 382 550 64 19 Nucleus 0 0 0 1 4 2003-02-28 Q99457 NP1L3_HUMAN NAP1L3 Nucleosome assembly protein 1-like 3 506 57.6 X Nucleus 0 0 0 1 4 1997-11-01 Q99525 H4G_HUMAN H4C7 Histone H4-like protein type G 98 11 6 Nucleus; Chromosome 0 0 0 1 4 2008-03-18 Q9BQ08 RETNB_HUMAN RETNLB Resistin-like beta 111 11.7 3 Secreted 0 0 0 2 4 2001-09-26 Q9BQQ7 RTP3_HUMAN RTP3 Receptor-transporting protein 3 232 27 3 Membrane 1 0 0 1 4 2002-10-10 Q9BRJ6 CHOLN_HUMAN CHLSN Protein cholesin 194 22.1 7 Secreted 0 0 0 1 4 2007-11-13 Q9BRP4 PAAF1_HUMAN PAAF1 Proteasomal ATPase-associated factor 1 392 42.2 11 0 0 0 1 4 2006-05-16 Q9BT76 UPK3B_HUMAN UPK3B Uroplakin-3b 320 33.9 7 Cell membrane 1 0 0 1 4 2003-09-19 Q9BUN1 MENT_HUMAN MENT Protein MENT 341 36.8 1 Secreted 0 0 0 1 4 2007-10-02 Q9BUY7 EFC11_HUMAN EFCAB11 EF-hand calcium-binding domain-containing protein 11 163 19.2 14 0 0 0 1 4 2007-05-15 Q9BX82 ZN471_HUMAN ZNF471 Zinc finger protein 471 626 73 19 Nucleus 0 0 0 1 4 2003-10-24 Q9BXK1 KLF16_HUMAN KLF16 Krueppel-like factor 16 252 25.4 19 Nucleus 0 0 0 1 4 2001-11-02 Q9BY21 GPR87_HUMAN GPR87 G protein-coupled receptor 87 358 41.4 3 Cell membrane 7 0 0 1 4 2003-10-03 Q9BYQ8 KRA49_HUMAN KRTAP4-9 Keratin-associated protein 4-9 210 22.4 17 0 0 0 1 4 2003-10-31 Q9BYQ9 KRA48_HUMAN KRTAP4-8 Keratin-associated protein 4-8 185 19.6 17 0 0 0 1 4 2003-10-31 Q9BZI1 IRX2_HUMAN IRX2 Iroquois-class homeodomain protein IRX-2 471 49.1 5 Nucleus 0 0 0 1 4 2002-04-16 Q9BZJ6 GPR63_HUMAN GPR63 Probable G protein-coupled receptor 63 419 47.6 6 Cell membrane 7 0 0 1 4 2002-05-27 Q9C0H5 RHG39_HUMAN ARHGAP39 Rho GTPase-activating protein 39 1083 121.3 8 Nucleus 0 0 0 1 4 2003-02-12 Q9H091 ZMY15_HUMAN ZMYND15 Zinc finger MYND domain-containing protein 15 742 81.9 17 Nucleus; Cytoplasm 0 1 Spermatogenic failure 14 0 1 4 2003-05-16 Q9H0K6 PUS7L_HUMAN PUS7L Pseudouridylate synthase PUS7L 701 80.7 12 5.4.99.- 0 0 0 1 4 2008-02-05 Q9H0U9 TSYL1_HUMAN TSPYL1 Testis-specific Y-encoded-like protein 1 437 49.2 6 Nucleus 0 1 Sudden infant death with dysgenesis of the testes syndrome 0 1 4 2003-08-15 Q9H0V1 TM168_HUMAN TMEM168 Transmembrane protein 168 697 79.8 7 Nucleus membrane 11 0 0 1 4 2007-04-17 Q9H1C0 LPAR5_HUMAN LPAR5 Lysophosphatidic acid receptor 5 372 41.3 12 Cell membrane 7 0 0 1 4 2003-10-10 Q9H1U4 MEGF9_HUMAN MEGF9 Multiple epidermal growth factor-like domains protein 9 602 63 9 Membrane 1 0 0 1 4 2004-04-13 Q9H2Y9 SO5A1_HUMAN SLCO5A1 Solute carrier organic anion transporter family member 5A1 848 91.9 8 Cell membrane 12 0 0 1 4 2003-01-10 Q9H341 O51M1_HUMAN OR51M1 Olfactory receptor 51M1 326 36.7 11 Cell membrane 7 0 0 3 4 2002-05-10 Q9H4A4 AMPB_HUMAN RNPEP Aminopeptidase B 650 72.6 1 3.4.11.6 Secreted 0 0 0 1 4 2002-03-27 Q9H6D8 FNDC4_HUMAN FNDC4 Fibronectin type III domain-containing protein 4 234 25.2 2 Membrane 1 0 0 1 4 2007-01-09 Q9HB09 B2L12_HUMAN BCL2L12 Bcl-2-like protein 12 250 26.9 19 0 0 0 1 4 2002-09-19 Q9HBR0 S38AA_HUMAN SLC38A10 Solute carrier family 38 member 10 1119 119.8 17 Membrane 10 0 0 1 4 2008-02-26 Q9HC44 GPBL1_HUMAN GPBP1L1 Vasculin-like protein 1 474 52.3 1 Nucleus 0 0 0 1 4 2008-03-18 Q9HCC6 HES4_HUMAN HES4 Transcription factor HES-4 221 23.5 1 Nucleus 0 0 0 1 4 2003-08-15 Q9HCN2 TPIP1_HUMAN TP53AIP1 p53-regulated apoptosis-inducing protein 1 124 12.9 11 Mitochondrion 0 0 0 2 4 2007-09-11 Q9NQX6 ZN331_HUMAN ZNF331 Zinc finger protein 331 463 53.7 19 Nucleus 0 0 0 1 4 2003-09-19 Q9NR77 PXMP2_HUMAN PXMP2 Peroxisomal membrane protein 2 195 22.3 12 Peroxisome membrane 4 0 0 1 4 2003-01-27 Q9NRH1 YAE1_HUMAN YAE1 Protein YAE1 homolog 226 25.3 7 Cytoplasm; Nucleus 0 0 0 1 4 2005-07-05 Q9NS93 TM7S3_HUMAN TM7SF3 Transmembrane 7 superfamily member 3 570 64.2 12 Cell membrane 7 0 0 1 4 2002-06-20 Q9NUA8 ZBT40_HUMAN ZBTB40 Zinc finger and BTB domain-containing protein 40 1239 138.1 1 Nucleus 0 0 0 1 4 2001-06-20 Q9NVK5 FGOP2_HUMAN FGFR1OP2 FGFR1 oncogene partner 2 253 29.4 12 Cytoplasm 0 0 0 1 4 2007-08-21 Q9NVP4 DZAN1_HUMAN DZANK1 Double zinc ribbon and ankyrin repeat-containing protein 1 752 82.2 20 Cytoplasm 0 0 0 1 4 2002-11-15 Q9NW68 BSDC1_HUMAN BSDC1 BSD domain-containing protein 1 430 47.2 1 0 0 0 1 4 2007-04-03 Q9NX38 ABITM_HUMAN ABITRAM Protein Abitram 181 20.4 9 Nucleus speckle; Cell projection; Nucleus 0 0 0 1 4 2007-06-26 Q9P2C4 TM181_HUMAN TMEM181 Transmembrane protein 181 475 55 6 Membrane 9 0 0 1 4 2006-06-13 Q9P2N2 RHG28_HUMAN ARHGAP28 Rho GTPase-activating protein 28 729 82.1 18 0 0 0 1 4 2007-03-20 Q9UBL0 ARP21_HUMAN ARPP21 cAMP-regulated phosphoprotein 21 812 89.2 3 Cytoplasm 0 0 0 1 4 2001-09-26 Q9UI15 TAGL3_HUMAN TAGLN3 Transgelin-3 199 22.5 3 0 0 0 1 4 2000-12-01 Q9UJ42 GP160_HUMAN GPR160 Probable G protein-coupled receptor 160 338 39.8 3 Cell membrane 7 0 0 1 4 2004-06-07 Q9UJU3 ZN112_HUMAN ZNF112 Zinc finger protein 112 913 105.8 19 Nucleus 0 0 0 1 4 2000-05-30 Q9UKL2 O52A1_HUMAN OR52A1 Olfactory receptor 52A1 312 35.3 11 Cell membrane 7 0 0 2 4 2001-06-20 Q9UKT6 FXL21_HUMAN FBXL21P Putative F-box/LRR-repeat protein 21 434 49.2 Cytoplasm; Nucleus 0 0 0 5 4 2003-10-03 Q9ULJ7 ANR50_HUMAN ANKRD50 Ankyrin repeat domain-containing protein 50 1429 155.9 4 Endosome 0 0 0 1 4 2001-06-20 Q9ULK6 RN150_HUMAN RNF150 RING finger protein 150 438 48.1 4 Membrane 1 0 0 1 4 2007-03-20 Q9ULL1 PKHG1_HUMAN PLEKHG1 Pleckstrin homology domain-containing family G member 1 1385 155.4 6 0 0 0 1 4 2003-05-09 Q9ULS5 TMCC3_HUMAN TMCC3 Transmembrane and coiled-coil domain protein 3 477 53.8 12 Endoplasmic reticulum membrane 2 0 0 1 4 2001-07-11 Q9UPX0 TUTLB_HUMAN IGSF9B Protein turtle homolog B 1349 147.1 11 Postsynaptic cell membrane; Postsynaptic density; Cell projection 1 0 0 1 4 2007-10-02 Q9UQ72 PSG11_HUMAN PSG11 Pregnancy-specific beta-1-glycoprotein 11 335 37.1 19 Secreted 0 0 0 1 4 2000-05-30 Q9Y2K3 MYH15_HUMAN MYH15 Myosin-15 1926 222.2 3 Cytoplasm 0 0 0 1 4 2007-02-06 Q9Y334 VWA7_HUMAN VWA7 von Willebrand factor A domain-containing protein 7 891 96.1 6 Secreted 0 0 0 1 4 2006-04-04 Q9Y5E6 PCDB3_HUMAN PCDHB3 Protocadherin beta-3 796 86.7 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5F8 PCDGJ_HUMAN PCDHGB7 Protocadherin gamma-B7 929 101 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5H7 PCDA5_HUMAN PCDHA5 Protocadherin alpha-5 936 102 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5Y3 GPR45_HUMAN GPR45 Probable G protein-coupled receptor 45 372 42 2 Cell membrane; Cell projection 7 0 0 1 4 2002-05-27 Q9Y6Q3 ZFP37_HUMAN ZFP37 Zinc finger protein 37 homolog 630 71.2 9 Nucleus 0 0 0 1 4 2000-12-01 U3KPV4 A3LT2_HUMAN A3GALT2 Alpha-1,3-galactosyltransferase 2 340 38.8 1 2.4.1.87 Golgi apparatus 1 0 0 2 4 2016-07-06 A0A075B6J9 LV218_HUMAN IGLV2-18 Immunoglobulin lambda variable 2-18 118 12.4 22 Secreted; Cell membrane 0 0 0 1 4 2017-01-18 A0A1B0GVQ0 SPAR_HUMAN SPAAR Small regulatory polypeptide of amino acid response 90 9.6 9 Late endosome membrane; Lysosome membrane 1 0 0 1 4 2017-02-15 A0M8Q6 IGLC7_HUMAN IGLC7 Immunoglobulin lambda constant 7 106 11.3 Secreted; Cell membrane 0 0 0 1 4 2010-04-20 A1L020 MEX3A_HUMAN MEX3A RNA-binding protein MEX3A 520 54.2 1 Cytoplasm; Nucleus 0 0 0 1 4 2007-03-20 A2A3K4 PTPC1_HUMAN PTPDC1 Protein tyrosine phosphatase domain-containing protein 1 754 84.5 9 3.1.3.- 0 0 0 1 4 2007-12-04 A2RUS2 DEND3_HUMAN DENND3 DENN domain-containing protein 3 1198 135.9 8 Cytoplasm 0 0 0 1 4 2007-09-11 A2VCK2 DCD2B_HUMAN DCDC2B Doublecortin domain-containing protein 2B 349 37.7 1 0 0 0 1 4 2007-10-02 A5D6W6 FITM1_HUMAN FITM1 Fat storage-inducing transmembrane protein 1 292 32.2 14 Endoplasmic reticulum membrane 7 0 0 1 4 2008-02-26 A6NC51 T150B_HUMAN TMEM150B Modulator of macroautophagy TMEM150B 233 25.7 19 Cell membrane; Endosome membrane; Cytoplasmic vesicle 6 0 0 2 4 2008-09-02 A6NCE7 MP3B2_HUMAN MAP1LC3B2 Microtubule-associated protein 1 light chain 3 beta 2 125 14.6 12 Cytoplasmic vesicle; Endomembrane system; Cytoplasm 0 0 0 1 4 2008-07-22 A6NCW0 U17L3_HUMAN USP17L3 Ubiquitin carboxyl-terminal hydrolase 17-like protein 3 530 59.5 8 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 4 2008-04-29 A6NDU8 RIMC1_HUMAN RIMOC1 RAB7A-interacting MON1-CCZ1 complex subunit 1 294 33.6 5 Cytoplasm 0 0 0 1 4 2008-06-10 A6NH00 OR2T8_HUMAN OR2T8 Olfactory receptor 2T8 312 34.7 1 Cell membrane 7 0 0 3 4 2007-12-04 A6NJB7 PRR19_HUMAN PRR19 Proline-rich protein 19 356 38.7 19 Nucleus; Chromosome 0 0 0 1 4 2008-04-29 A6NMN3 F170B_HUMAN FAM170B Protein FAM170B 283 32.1 10 Cytoplasmic vesicle 0 0 0 1 4 2007-11-13 A6NNS2 DRS7C_HUMAN DHRS7C Dehydrogenase/reductase SDR family member 7C 312 34.9 17 1.1.1.105 Sarcoplasmic reticulum membrane 0 0 0 1 4 2008-05-20 A6NNW6 ENO4_HUMAN ENO4 Enolase 4 625 68.5 10 4.2.1.11 0 0 0 1 4 2008-09-02 A7E2F4 GOG8A_HUMAN GOLGA8A Golgin subfamily A member 8A 631 70.1 15 Golgi apparatus 0 0 0 2 4 2008-01-15 A7MBM2 DISP2_HUMAN DISP2 Protein dispatched homolog 2 1401 152 15 Membrane 12 0 0 1 4 2007-11-13 A8MTL3 R212B_HUMAN RNF212B E3 ubiquitin-protein ligase RNF212B 300 33.6 14 2.3.2.27 Chromosome 0 0 0 1 4 2008-09-02 A8MWY0 ELAP2_HUMAN ELAPOR2 Endosome/lysosome-associated apoptosis and autophagy regulator family member 2 1029 113.8 7 Cell membrane 1 0 0 1 4 2008-05-20 B8ZZ34 SHSA8_HUMAN SHISA8 Protein shisa-8 397 42 22 Membrane 1 0 0 1 4 2010-06-15 G9CGD6 CNIPF_HUMAN CNK3/IPCEF1 CNK3/IPCEF1 fusion protein 899 100.4 6 0 0 0 1 4 2017-12-20 O00515 LAD1_HUMAN LAD1 Ladinin-1 517 57.1 1 Secreted 0 0 0 1 4 2000-12-01 O00634 NET3_HUMAN NTN3 Netrin-3 580 61.5 16 Secreted 0 0 0 1 4 2004-12-07 O14668 TMG1_HUMAN PRRG1 Transmembrane gamma-carboxyglutamic acid protein 1 218 24.9 X Membrane 1 0 0 1 4 2002-01-23 O14718 OPSX_HUMAN RRH Visual pigment-like receptor peropsin 337 37.4 4 Membrane; Apical cell membrane 7 0 0 1 4 1998-07-15 O15090 ZN536_HUMAN ZNF536 Zinc finger protein 536 1300 141.4 19 Nucleus 0 0 0 1 4 2007-01-09 O43347 MSI1H_HUMAN MSI1 RNA-binding protein Musashi homolog 1 362 39.1 12 Cytoplasm; Nucleus 0 0 0 1 4 2004-08-16 O43555 GON2_HUMAN GNRH2 Progonadoliberin-2 120 12.9 20 Secreted 0 0 0 2 4 1998-12-15 O43812 DUX1_HUMAN DUX1 Double homeobox protein 1 170 19.3 Nucleus 0 0 0 1 4 2006-10-17 O60225 SSX5_HUMAN SSX5 Protein SSX5 188 21.7 X 0 0 0 1 4 1999-07-15 O60299 LZTS3_HUMAN LZTS3 Leucine zipper putative tumor suppressor 3 673 71.8 20 Synapse; Postsynaptic density; Cell projection; Cytoplasm 0 0 0 1 4 1999-07-15 O60732 MAGC1_HUMAN MAGEC1 Melanoma-associated antigen C1 1142 123.6 X Cytoplasm 0 0 0 1 4 2001-09-26 O71037 ENK19_HUMAN ERVK-19 Endogenous retrovirus group K member 19 Env polyprotein 699 79.3 Cell membrane 1 0 0 1 4 2004-05-24 O75153 CLU_HUMAN CLUH Clustered mitochondria protein homolog 1309 146.7 17 Cytoplasm; Cytoplasmic granule 0 0 0 1 4 2000-05-30 O75325 LRRN2_HUMAN LRRN2 Leucine-rich repeat neuronal protein 2 713 78.9 1 Membrane 1 0 0 1 4 2001-01-11 O75335 LIPA4_HUMAN PPFIA4 Liprin-alpha-4 1185 134.4 1 Cytoplasm; Cell surface 0 0 0 1 4 2004-02-16 O75526 RMXL2_HUMAN RBMXL2 RNA-binding motif protein, X-linked-like-2 392 42.8 11 Nucleus 0 0 0 1 4 2007-03-20 O75541 ZN821_HUMAN ZNF821 Zinc finger protein 821 412 46.8 16 Nucleus 0 0 0 1 4 2008-02-05 O75711 SCRG1_HUMAN SCRG1 Scrapie-responsive protein 1 98 11.1 4 Secreted 0 0 0 1 4 2000-05-30 O75901 RASF9_HUMAN RASSF9 Ras association domain-containing protein 9 435 50 12 Endosome 0 0 0 1 4 2007-09-11 O94967 WDR47_HUMAN WDR47 WD repeat-containing protein 47 919 101.9 1 Cytoplasm 0 0 0 1 4 2001-06-20 O95190 OAZ2_HUMAN OAZ2 Ornithine decarboxylase antizyme 2 189 21 15 Nucleus 0 0 0 1 4 1999-07-15 O95199 RCBT2_HUMAN RCBTB2 RCC1 and BTB domain-containing protein 2 551 60.3 13 Cytoplasmic vesicle 0 0 0 1 4 2005-12-20 O95336 6PGL_HUMAN PGLS 6-phosphogluconolactonase 258 27.5 19 3.1.1.31 Cytoplasm 0 0 0 1 4 2000-05-30 O95780 ZN682_HUMAN ZNF682 Zinc finger protein 682 498 58.4 19 Nucleus 0 0 0 1 4 2006-05-02 O95976 IGSF6_HUMAN IGSF6 Immunoglobulin superfamily member 6 241 27 16 Membrane 1 0 0 1 4 2008-02-26 P01567 IFNA7_HUMAN IFNA7 Interferon alpha-7 189 22.1 9 Secreted 0 0 0 1 4 1986-07-21 P01569 IFNA5_HUMAN IFNA5 Interferon alpha-5 189 21.9 9 Secreted 0 0 0 1 4 1986-07-21 P01601 KVD16_HUMAN IGKV1D-16 Immunoglobulin kappa variable 1D-16 117 12.7 2 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01743 HV146_HUMAN IGHV1-46 Immunoglobulin heavy variable 1-46 117 12.9 14 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01762 HV311_HUMAN IGHV3-11 Immunoglobulin heavy variable 3-11 117 12.9 14 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01817 HV205_HUMAN IGHV2-5 Immunoglobulin heavy variable 2-5 119 13.2 14 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P06315 KV502_HUMAN IGKV5-2 Immunoglobulin kappa variable 5-2 115 12.7 2 Secreted; Cell membrane 0 0 0 1 4 1988-01-01 P06331 HV434_HUMAN IGHV4-34 Immunoglobulin heavy variable 4-34 123 13.8 14 Secreted; Cell membrane 0 0 0 1 4 1988-01-01 P0C7M4 RHF2B_HUMAN RHOXF2B Rhox homeobox family member 2B 288 31.6 X Nucleus 0 0 0 1 4 2008-06-10 P0C7P1 RBY1D_HUMAN RBMY1D RNA-binding motif protein, Y chromosome, family 1 member D 496 55.8 Y Nucleus 0 0 0 2 4 2008-06-10 P0CF74 IGLC6_HUMAN IGLC6 Immunoglobulin lambda constant 6 106 11.3 Secreted; Cell membrane 0 0 0 1 4 2010-04-20 P0DJD4 RBY1C_HUMAN RBMY1C RNA-binding motif protein, Y chromosome, family 1 member C 496 55.8 Nucleus 0 0 0 1 4 2012-02-22 P0DN78 OPSG3_HUMAN OPN1MW3 Medium-wave-sensitive opsin 3 364 40.6 X Cell membrane; Photoreceptor outer segment membrane 7 0 0 3 4 2016-02-17 P0DOX6 IGM_HUMAN Immunoglobulin mu heavy chain 576 63.5 Secreted; Cell membrane 0 0 0 1 4 2017-03-15 P17019 ZN708_HUMAN ZNF708 Zinc finger protein 708 563 64.8 19 Nucleus 0 0 0 1 4 1990-08-01 P17025 ZN182_HUMAN ZNF182 Zinc finger protein 182 639 73.6 X Nucleus 0 0 0 1 4 1990-08-01 P17029 ZKSC1_HUMAN ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 563 63.6 7 Nucleus 0 0 0 1 4 1990-08-01 P17038 ZNF43_HUMAN ZNF43 Zinc finger protein 43 809 94.1 19 Nucleus 0 0 0 1 4 1990-08-01 P21506 ZNF10_HUMAN ZNF10 Zinc finger protein 10 573 66.5 12 Nucleus 0 0 0 1 4 1991-05-01 P31267 HXA6_HUMAN HOXA6 Homeobox protein Hox-A6 233 26.3 7 Nucleus 0 0 0 1 4 1993-07-01 P31277 HXD11_HUMAN HOXD11 Homeobox protein Hox-D11 338 35.2 2 Nucleus 0 0 0 1 4 1993-07-01 P32314 FOXN2_HUMAN FOXN2 Forkhead box protein N2 431 47.2 2 Nucleus 0 0 0 1 4 1993-10-01 P47887 OR1E2_HUMAN OR1E2 Olfactory receptor 1E2 323 36.4 17 Cell membrane 7 0 0 2 4 1996-02-01 P49750 YLPM1_HUMAN YLPM1 YLP motif-containing protein 1 2146 241.6 14 Nucleus; Nucleus speckle 0 0 0 1 4 1996-10-01 P51397 DAP1_HUMAN DAP Death-associated protein 1 102 11.2 5 0 0 0 1 4 1996-10-01 P51522 ZNF83_HUMAN ZNF83 Zinc finger protein 83 516 59.7 19 Nucleus 0 0 0 1 4 1996-10-01 P51689 ARSD_HUMAN ARSD Arylsulfatase D 593 64.9 X 3.1.6.- Lysosome 0 0 0 1 4 1996-10-01 P54107 CRIS1_HUMAN CRISP1 Cysteine-rich secretory protein 1 249 28.5 6 0 0 0 1 4 1996-10-01 P54792 DVLP1_HUMAN DVL1P1 Putative segment polarity protein dishevelled homolog DVL1P1 670 73.3 Cytoplasm 0 0 0 5 4 1996-10-01 P54793 ARSF_HUMAN ARSF Arylsulfatase F 590 65.9 X 3.1.6.1 Secreted 0 0 0 1 4 1996-10-01 P56179 DLX6_HUMAN DLX6 Homeobox protein DLX-6 175 19.7 7 Nucleus 0 0 0 1 4 1997-11-01 P57058 HUNK_HUMAN HUNK Hormonally up-regulated neu tumor-associated kinase 714 79.7 21 2.7.11.1 0 0 0 1 4 2000-12-01 P58173 OR2B6_HUMAN OR2B6 Olfactory receptor 2B6 313 35.4 6 Cell membrane 7 0 0 2 4 2001-06-20 P58317 ZN121_HUMAN ZNF121 Zinc finger protein 121 390 44.7 19 Nucleus 0 0 0 1 4 2001-10-18 P59535 T2R40_HUMAN TAS2R40 Taste receptor type 2 member 40 323 36.8 7 Membrane 7 0 0 2 4 2003-04-11 P60369 KR103_HUMAN KRTAP10-3 Keratin-associated protein 10-3 221 22.3 21 0 0 0 1 4 2004-02-16 P60608 EFC2_HUMAN ERVFC1-1 Endogenous retrovirus group FC1 member 1 Env polyprotein 527 58.3 Virion 0 0 0 1 4 2004-03-15 P60893 GPR85_HUMAN GPR85 Probable G protein-coupled receptor 85 370 42 7 Cell membrane; Endoplasmic reticulum 7 0 0 1 4 2004-04-13 P60983 GMFB_HUMAN GMFB Glia maturation factor beta 142 16.7 14 0 0 0 1 4 2004-04-26 P61567 ENK7_HUMAN ERVK-7 Endogenous retrovirus group K member 7 Env polyprotein 588 66.6 Virion 1 0 0 2 4 2004-05-24 P63123 VPK18_HUMAN ERVK-18 Endogenous retrovirus group K member 18 Pro protein 156 17.1 0 0 0 3 4 2004-09-13 P80748 LV321_HUMAN IGLV3-21 Immunoglobulin lambda variable 3-21 117 12.4 22 Secreted; Cell membrane 0 0 0 1 4 1999-07-15 Q02045 MYL5_HUMAN MYL5 Myosin light chain 5 173 19.5 4 0 0 0 1 4 1993-07-01 Q02509 OC90_HUMAN OC90 Otoconin-90 477 51.7 8 Secreted 0 0 0 1 4 2000-05-30 Q03169 TNAP2_HUMAN TNFAIP2 Tumor necrosis factor alpha-induced protein 2 654 72.7 14 0 0 0 1 4 1993-10-01 Q03936 ZNF92_HUMAN ZNF92 Zinc finger protein 92 586 68.5 7 Nucleus 0 0 0 1 4 1994-06-01 Q13398 ZN211_HUMAN ZNF211 Zinc finger protein 211 564 64.5 19 Nucleus 0 0 0 1 4 2000-05-30 Q14093 CYLC2_HUMAN CYLC2 Cylicin-2 348 39.1 9 Cytoplasm 0 0 0 1 4 1997-11-01 Q14330 GPR18_HUMAN GPR18 N-arachidonyl glycine receptor 331 38.1 13 Cell membrane; Cytoplasmic vesicle membrane 7 0 0 1 4 1997-11-01 Q14582 MAD4_HUMAN MXD4 Max dimerization protein 4 209 23.5 4 Nucleus 0 0 0 1 4 1998-12-15 Q14929 ZN169_HUMAN ZNF169 Zinc finger protein 169 603 68.5 9 Nucleus 0 0 0 1 4 1998-12-15 Q14CX5 S68A1_HUMAN SLC68A1 Solute carrier family 68 member 1 517 57.4 10 Cell membrane 12 0 0 1 4 2006-10-31 Q15390 MTFR1_HUMAN MTFR1 Mitochondrial fission regulator 1 333 37 8 Mitochondrion 0 0 0 1 4 1998-07-15 Q17RR3 LIPR3_HUMAN PNLIPRP3 Pancreatic lipase-related protein 3 467 52.3 10 3.1.1.3 Secreted 0 0 0 1 4 2007-05-15 Q2NL98 VMAC_HUMAN VMAC Vimentin-type intermediate filament-associated coiled-coil protein 169 18.3 19 Cytoplasm 0 0 0 1 4 2008-02-26 Q2QL34 MP17L_HUMAN MPV17L Mpv17-like protein 196 22.1 16 Peroxisome membrane 4 0 0 1 4 2008-05-20 Q2T9L4 INSY1_HUMAN INSYN1 Inhibitory synaptic factor 1 293 31.9 15 Postsynaptic density 0 0 0 1 4 2008-05-20 Q2VIR3 IF2GL_HUMAN EIF2S3B Eukaryotic translation initiation factor 2 subunit 3B 472 51.2 12 3.6.5.3 0 0 0 1 4 2008-07-22 Q2VWP7 PRTG_HUMAN PRTG Protogenin 1150 127.1 15 Membrane 1 0 0 1 4 2008-02-05 Q3KQU3 MA7D1_HUMAN MAP7D1 MAP7 domain-containing protein 1 841 92.8 1 Cytoplasm; Midbody 0 0 0 1 4 2007-10-02 Q3SY52 ZIK1_HUMAN ZIK1 Zinc finger protein interacting with ribonucleoprotein K 487 54.8 19 Nucleus 0 0 0 1 4 2007-05-15 Q496Y0 LONF3_HUMAN LONRF3 LON peptidase N-terminal domain and RING finger protein 3 759 84.5 X 0 0 0 1 4 2007-02-20 Q4G0A6 MINY4_HUMAN MINDY4 Probable ubiquitin carboxyl-terminal hydrolase MINDY-4 757 84.4 7 3.4.19.12 0 0 0 1 4 2008-02-26 Q4L235 ACSF4_HUMAN AASDH Beta-alanine-activating enzyme 1098 122.6 4 6.2.1.- 0 0 0 1 4 2008-01-15 Q4LEZ3 AARD_HUMAN AARD Alanine- and arginine-rich domain-containing protein 155 17.6 8 0 0 0 1 4 2008-05-20 Q53G44 IF44L_HUMAN IFI44L Interferon-induced protein 44-like 452 51.3 1 Cytoplasm 0 0 0 1 4 2008-06-10 Q53GI3 ZN394_HUMAN ZNF394 Zinc finger protein 394 561 64.3 7 Nucleus 0 0 0 1 4 2005-11-08 Q5FYB0 ARSJ_HUMAN ARSJ Arylsulfatase J 599 67.2 4 3.1.6.- Secreted 0 0 0 1 4 2005-10-11 Q5JQC4 CT47A_HUMAN CT47A1 Cancer/testis antigen 47A 288 30.1 X 0 0 0 1 4 2007-04-17 Q5JXA9 SIRB2_HUMAN SIRPB2 Signal-regulatory protein beta-2 342 37 20 Membrane 1 0 0 1 4 2008-06-10 Q5T013 HYI_HUMAN HYI Putative hydroxypyruvate isomerase 277 30.4 1 5.3.1.22 0 0 0 1 4 2007-05-29 Q5T0D9 TPRGL_HUMAN TPRG1L Tumor protein p63-regulated gene 1-like protein 272 30.2 1 Cytoplasmic vesicle; Presynaptic active zone 0 0 0 1 4 2006-12-12 Q5T215 TPC3L_HUMAN TRAPPC3L Trafficking protein particle complex subunit 3-like protein 181 20.6 6 Golgi apparatus; Endoplasmic reticulum 0 0 0 1 4 2007-10-02 Q5TC79 ZBT37_HUMAN ZBTB37 Zinc finger and BTB domain-containing protein 37 503 56.1 1 Nucleus 0 0 0 1 4 2005-07-05 Q5TEA6 SE1L2_HUMAN SEL1L2 Protein sel-1 homolog 2 688 78 20 Membrane; Cell projection; Nucleus speckle 1 0 0 1 4 2007-10-02 Q5U5R9 HECD2_HUMAN HECTD2 Probable E3 ubiquitin-protein ligase HECTD2 776 88.1 10 2.3.2.26 0 0 0 1 4 2006-06-27 Q5VT97 SYDE2_HUMAN SYDE2 Rho GTPase-activating protein SYDE2 1194 133.2 1 0 0 0 1 4 2007-12-04 Q5VU65 P210L_HUMAN NUP210L Nuclear pore membrane glycoprotein 210-like 1888 210.6 1 Nucleus membrane 1 1 Spermatogenic failure 97 0 1 4 2006-05-16 Q5VZB9 DMRTA_HUMAN DMRTA1 Doublesex- and mab-3-related transcription factor A1 504 53.1 9 Nucleus 0 0 0 1 4 2006-06-27 Q63HM1 KFA_HUMAN AFMID Kynurenine formamidase 303 34 17 3.5.1.9 Cytoplasm; Nucleus 0 0 0 1 4 2006-09-05 Q641Q3 METRL_HUMAN METRNL Meteorin-like protein 311 34.4 17 Secreted 0 0 0 1 4 2007-05-29 Q66K14 TBC9B_HUMAN TBC1D9B TBC1 domain family member 9B 1250 140.5 5 Membrane 1 0 0 1 4 2007-05-29 Q68BL7 OLM2A_HUMAN OLFML2A Olfactomedin-like protein 2A 652 73.1 9 Secreted 0 0 0 1 4 2007-11-13 Q6DHY5 TBC3G_HUMAN TBC1D3G TBC1 domain family member 3G 549 62.2 17 Cell membrane 0 0 0 1 4 2007-09-11 Q6GMV3 PTRD1_HUMAN PTRHD1 Putative peptidyl-tRNA hydrolase PTRHD1 140 15.8 2 3.1.1.29 0 1 Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities 0 1 4 2008-02-26 Q6IEE7 T132E_HUMAN TMEM132E Transmembrane protein 132E 1074 116.2 17 Membrane 1 1 Deafness, autosomal recessive, 99 0 1 4 2007-05-15 Q6IMI4 ST6B1_HUMAN SULT6B1 Sulfotransferase 6B1 303 34.9 2 Cytoplasm 0 0 0 2 4 2005-03-15 Q6IQ32 ADNP2_HUMAN ADNP2 Activity-dependent neuroprotector homeobox protein 2 1131 122.8 18 Nucleus 0 0 0 1 4 2007-03-20 Q6IV72 ZN425_HUMAN ZNF425 Zinc finger protein 425 752 87.7 7 Nucleus; Cytoplasm 0 0 0 1 4 2006-05-16 Q6NT32 EST5A_HUMAN CES5A Carboxylesterase 5A 575 63.9 16 3.1.1.1 Secreted 0 0 0 1 4 2007-10-23 Q6NUM9 RETST_HUMAN RETSAT All-trans-retinol 13,14-reductase 610 66.8 2 1.3.99.23 Endoplasmic reticulum membrane 0 0 0 1 4 2006-03-07 Q6P3R8 NEK5_HUMAN NEK5 Serine/threonine-protein kinase Nek5 708 81.4 13 2.7.11.1 Cell projection 0 0 0 1 4 2006-11-28 Q6P9G4 TM154_HUMAN TMEM154 Transmembrane protein 154 183 20.5 4 Membrane 1 0 0 1 4 2007-04-17 Q6PK18 OGFD3_HUMAN OGFOD3 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 3 319 35.6 17 1.14.11.- Membrane 1 0 0 1 4 2008-03-18 Q6PKH6 DR4L2_HUMAN DHRS4L2 Dehydrogenase/reductase SDR family member 4-like 2 232 24.9 14 1.1.-.- Secreted 0 0 0 1 4 2007-12-04 Q6Q8B3 MO2R2_HUMAN CD200R1L Cell surface glycoprotein CD200 receptor 2 271 29.9 3 Membrane 1 0 0 1 4 2008-09-02 Q6UWT4 CE046_HUMAN C5orf46 Uncharacterized protein C5orf46 87 9.7 5 Secreted 0 0 0 1 4 2008-02-05 Q6UWV2 MPZL3_HUMAN MPZL3 Myelin protein zero-like protein 3 235 26 11 Membrane 1 0 0 1 4 2007-03-20 Q6UXN2 TRML4_HUMAN TREML4 Trem-like transcript 4 protein 200 21.9 6 Secreted 0 0 0 2 4 2007-10-23 Q6UXX5 ITIH6_HUMAN ITIH6 Inter-alpha-trypsin inhibitor heavy chain H6 1313 143.2 X Secreted 0 0 0 1 4 2007-05-01 Q6ZN28 MACC1_HUMAN MACC1 Metastasis-associated in colon cancer protein 1 852 96.6 7 Cytoplasm; Nucleus 0 0 0 1 4 2008-04-08 Q6ZVH7 ESPNL_HUMAN ESPNL Espin-like protein 1005 108.1 2 Cell projection 0 0 0 1 4 2007-12-04 Q6ZVX9 PAQR9_HUMAN PAQR9 Membrane progestin receptor epsilon 377 42.7 3 Cell membrane 7 0 0 1 4 2004-08-31 Q6ZW05 PTHD4_HUMAN PTCHD4 Patched domain-containing protein 4 846 96.4 6 Membrane 12 0 0 1 4 2008-02-26 Q717R9 CYS1_HUMAN CYS1 Cystin-1 158 16.4 2 Cell projection; Cytoplasm 0 0 0 1 4 2006-11-28 Q7L8W6 DPH6_HUMAN DPH6 Diphthine--ammonia ligase 267 30.3 15 6.3.1.14 0 0 0 1 4 2007-04-03 Q7RTR8 T2R42_HUMAN TAS2R42 Taste receptor type 2 member 42 314 36.3 12 Membrane 7 0 0 2 4 2004-11-23 Q7RTU9 STRC_HUMAN STRC Stereocilin 1775 193 15 Cell surface; Cell projection 0 2 Deafness, autosomal recessive, 16; Deafness-infertility syndrome 0 2 4 2004-05-24 Q7RTY5 PRS48_HUMAN PRSS48 Serine protease 48 328 36 4 3.4.21.- Secreted 0 0 0 1 4 2008-04-29 Q7Z2K8 GRIN1_HUMAN GPRIN1 G protein-regulated inducer of neurite outgrowth 1 1008 102.4 5 Cell membrane; Cell projection 0 0 0 1 4 2006-05-16 Q7Z4P5 GDF7_HUMAN GDF7 Growth/differentiation factor 7 450 47 2 Secreted 0 0 0 1 4 2004-07-19 Q7Z5M8 AB12B_HUMAN ABHD12B Protein ABHD12B 362 40.8 14 3.-.-.- 0 0 0 1 4 2004-07-05 Q7Z6Z6 PLPL5_HUMAN PNPLA5 Patatin-like phospholipase domain-containing protein 5 429 47.9 22 3.1.1.3 0 0 0 1 4 2007-06-26 Q7Z7K0 COXM1_HUMAN CMC1 COX assembly mitochondrial protein homolog 106 12.5 3 Mitochondrion 0 0 0 1 4 2008-02-05 Q7Z7L9 ZSCA2_HUMAN ZSCAN2 Zinc finger and SCAN domain-containing protein 2 614 69.5 15 Nucleus 0 0 0 1 4 2004-11-23 Q86W67 F228A_HUMAN FAM228A Protein FAM228A 206 23.8 2 0 0 0 1 4 2008-09-02 Q86WI0 LHPL1_HUMAN LHFPL1 LHFPL tetraspan subfamily member 1 protein 220 23.8 X Membrane 3 0 0 1 4 2006-06-27 Q86X19 TMM17_HUMAN TMEM17 Transmembrane protein 17 198 23 2 Cell projection 4 0 0 1 4 2006-10-31 Q86XN7 PRSR1_HUMAN PROSER1 Proline and serine-rich protein 1 944 95.7 13 0 0 0 1 4 2007-02-06 Q86XR5 PRIMA_HUMAN PRIMA1 Proline-rich membrane anchor 1 153 16.7 14 Cell membrane; Cell junction; Synapse 1 0 0 1 4 2003-10-03 Q86YJ6 THNS2_HUMAN THNSL2 Threonine synthase-like 2 484 54.1 2 4.2.3.- Secreted 0 0 0 1 4 2007-10-02 Q8IW03 SIAH3_HUMAN SIAH3 Seven in absentia homolog 3 269 30.7 13 Mitochondrion 0 0 0 1 4 2008-05-20 Q8IW36 ZN695_HUMAN ZNF695 Zinc finger protein 695 515 60.1 1 Nucleus 0 0 0 1 4 2006-05-02 Q8IXT1 DDIAS_HUMAN DDIAS DNA damage-induced apoptosis suppressor protein 998 111.6 11 Cytoplasm; Nucleus 0 0 0 1 4 2007-12-04 Q8IYD9 LAS2_HUMAN LAS2 Lung adenoma susceptibility protein 2 372 41.8 18 Secreted 0 0 0 1 4 2005-08-16 Q8IZ57 NRSN1_HUMAN NRSN1 Neurensin-1 195 21.5 6 Membrane; Cell projection 2 0 0 1 4 2007-01-09 Q8IZS6 DYLT2_HUMAN DYNLT2 Dynein light chain Tctex-type protein 2 198 23.2 6 Cytoplasm; Cytoplasmic granule; Membrane 0 0 0 1 4 2008-04-08 Q8IZS7 CLCL1_HUMAN CLECL1 C-type lectin-like domain family 1 167 19.1 12 Cell membrane 1 0 0 1 4 2008-02-05 Q8IZT9 FAM9C_HUMAN FAM9C Protein FAM9C 166 19.2 X Nucleus 0 0 0 1 4 2003-03-25 Q8N0U2 TMM61_HUMAN TMEM61 Transmembrane protein 61 210 22.2 1 Membrane 2 0 0 1 4 2006-10-31 Q8N365 CIART_HUMAN CIART Circadian-associated transcriptional repressor 385 41.4 1 Nucleus 0 0 0 1 4 2006-10-03 Q8N4G2 ARL14_HUMAN ARL14 ADP-ribosylation factor-like protein 14 192 21.6 3 Cytoplasmic vesicle 0 0 0 1 4 2007-03-20 Q8N5R6 CCD33_HUMAN CCDC33 Coiled-coil domain-containing protein 33 958 107.2 15 0 0 0 1 4 2007-10-23 Q8N6Q1 TMC5A_HUMAN TMCO5A Transmembrane and coiled-coil domain-containing protein 5A 288 34.2 15 Endoplasmic reticulum membrane; Nucleus membrane; Cytoplasm 1 0 0 1 4 2007-10-02 Q8N6V9 TEX9_HUMAN TEX9 Testis-expressed protein 9 391 44.8 15 Cytoplasm 0 0 0 1 4 2006-06-27 Q8N6Y1 PCD20_HUMAN PCDH20 Protocadherin-20 951 104.9 13 Cell membrane 1 0 0 1 4 2004-08-16 Q8N806 UBR7_HUMAN UBR7 Putative E3 ubiquitin-protein ligase UBR7 425 48 14 2.3.2.27 0 1 Li-Campeau syndrome 0 1 4 2003-10-24 Q8N819 PPM1N_HUMAN PPM1N Probable protein phosphatase 1N 430 46.2 19 3.1.3.16 0 0 0 2 4 2008-09-02 Q8N823 ZN611_HUMAN ZNF611 Zinc finger protein 611 705 81.4 19 Nucleus 0 0 0 1 4 2006-05-16 Q8N8J6 ZN615_HUMAN ZNF615 Zinc finger protein 615 731 83.7 19 Nucleus 0 0 0 1 4 2004-11-23 Q8N8Q1 C56D1_HUMAN CYB561D1 Probable transmembrane reductase CYB561D1 229 25.4 1 7.2.1.3 Membrane 6 0 0 1 4 2005-05-10 Q8N8Z8 ZN441_HUMAN ZNF441 Zinc finger protein 441 693 80.1 19 Nucleus 0 0 0 1 4 2003-05-09 Q8NAF0 ZN579_HUMAN ZNF579 Zinc finger protein 579 562 60.5 19 Nucleus 0 0 0 1 4 2005-12-06 Q8NCA5 FA98A_HUMAN FAM98A Protein FAM98A 518 55.3 2 0 0 0 1 4 2005-12-06 Q8ND07 BBOF1_HUMAN BBOF1 Basal body-orientation factor 1 529 62 14 Cytoplasm 0 0 0 1 4 2006-10-03 Q8ND71 GIMA8_HUMAN GIMAP8 GTPase IMAP family member 8 665 74.9 7 Endoplasmic reticulum; Golgi apparatus; Mitochondrion; Cytoplasm 0 0 0 1 4 2008-07-01 Q8NEF9 SRFB1_HUMAN SRFBP1 Serum response factor-binding protein 1 429 48.6 5 Cytoplasm 0 0 0 1 4 2008-02-26 Q8NEY3 SPAT4_HUMAN SPATA4 Spermatogenesis-associated protein 4 305 34.8 4 Nucleus 0 0 0 1 4 2003-10-10 Q8NF86 PRS33_HUMAN PRSS33 Serine protease 33 280 29.8 16 3.4.21.- Secreted 0 0 0 1 4 2007-09-11 Q8NFI3 ENASE_HUMAN ENGASE Cytosolic endo-beta-N-acetylglucosaminidase 743 84 17 3.2.1.96 Cytoplasm 0 0 0 1 4 2008-04-08 Q8NGC0 O5AU1_HUMAN OR5AU1 Olfactory receptor 5AU1 362 40.7 14 Cell membrane 7 0 0 2 4 2003-10-10 Q8NGC8 O11H7_HUMAN OR11H7 Olfactory receptor 11H7 314 35.5 Cell membrane 7 0 0 3 4 2008-01-15 Q8NGI2 O52N4_HUMAN OR52N4 Olfactory receptor 52N4 321 36.1 11 Cell membrane 7 0 0 2 4 2003-10-10 Q8NGM9 OR8D4_HUMAN OR8D4 Olfactory receptor 8D4 314 35 11 Cell membrane 7 0 0 2 4 2003-10-10 Q8NGN3 O10G4_HUMAN OR10G4 Olfactory receptor 10G4 311 34.6 11 Cell membrane 7 0 0 1 4 2003-10-10 Q8NGR6 OR1B1_HUMAN OR1B1 Olfactory receptor 1B1 317 35.2 9 Cell membrane 7 0 0 3 4 2003-10-10 Q8NGY0 O10X1_HUMAN OR10X1 Olfactory receptor 10X1 326 36.4 1 Cell membrane 7 0 0 3 4 2005-12-20 Q8NGY3 OR6K3_HUMAN OR6K3 Olfactory receptor 6K3 331 37.4 1 Cell membrane 7 0 0 3 4 2003-10-10 Q8NH10 OR8U1_HUMAN OR8U1 Olfactory receptor 8U1 309 35.1 11 Cell membrane 7 0 0 3 4 2005-12-20 Q8NH19 O10AG_HUMAN OR10AG1 Olfactory receptor 10AG1 301 34.1 11 Cell membrane 7 0 0 1 4 2003-11-21 Q8NH85 OR5R1_HUMAN OR8U3 Olfactory receptor 8U3 324 36.7 11 Cell membrane 7 0 0 3 4 2005-02-01 Q8TAE6 PP14C_HUMAN PPP1R14C Protein phosphatase 1 regulatory subunit 14C 165 17.8 6 Cytoplasm; Membrane 0 0 0 1 4 2004-11-09 Q8TAL6 FIBIN_HUMAN FIBIN Fin bud initiation factor homolog 211 24.3 11 Secreted; Golgi apparatus; Endoplasmic reticulum 0 0 0 1 4 2008-09-02 Q8TB03 CX038_HUMAN CXorf38 Uncharacterized protein CXorf38 319 36.7 X 0 0 0 1 4 2005-07-19 Q8TBB5 KLDC4_HUMAN KLHDC4 Kelch domain-containing protein 4 520 57.9 16 0 0 0 1 4 2006-03-21 Q8TBQ9 KISHA_HUMAN TMEM167A Protein kish-A 72 8.1 5 Golgi apparatus membrane 1 0 0 1 4 2006-07-25 Q8TC21 ZN596_HUMAN ZNF596 Zinc finger protein 596 504 58.5 8 Nucleus 0 0 0 1 4 2006-07-11 Q8TC90 CCER1_HUMAN CCER1 Coiled-coil domain-containing glutamate-rich protein 1 406 46.5 12 Nucleus 0 0 0 1 4 2007-05-29 Q8TCV5 WFDC5_HUMAN WFDC5 WAP four-disulfide core domain protein 5 224 24.2 20 Secreted 0 0 0 1 4 2002-12-06 Q8TDV2 GP148_HUMAN GPR148 Probable G protein-coupled receptor 148 347 38.3 2 Cell membrane 7 0 0 1 4 2005-06-07 Q8TDW4 ST7L_HUMAN ST7L Suppressor of tumorigenicity 7 protein-like 575 64.8 1 Membrane 2 0 0 1 4 2008-06-10 Q8TF45 ZN418_HUMAN ZNF418 Zinc finger protein 418 676 77.9 19 Nucleus 0 0 0 1 4 2002-09-19 Q8TF64 GIPC3_HUMAN GIPC3 PDZ domain-containing protein GIPC3 312 34 19 0 1 Deafness, autosomal recessive, 15 0 1 4 2006-07-25 Q8WY22 BRI3B_HUMAN BRI3BP BRI3-binding protein 251 27.8 12 Mitochondrion outer membrane 4 0 0 1 4 2006-04-04 Q8WYK1 CNTP5_HUMAN CNTNAP5 Contactin-associated protein-like 5 1306 145.6 2 Membrane 1 0 0 1 4 2008-02-05 Q8WYQ9 ZCH14_HUMAN ZCCHC14 Zinc finger CCHC domain-containing protein 14 949 100 16 0 0 0 1 4 2005-06-07 Q92610 ZN592_HUMAN ZNF592 Zinc finger protein 592 1267 137.5 15 Nucleus 0 0 0 1 4 2001-06-20 Q92828 COR2A_HUMAN CORO2A Coronin-2A 525 59.8 9 0 0 0 1 4 1998-07-15 Q969Q4 ARL11_HUMAN ARL11 ADP-ribosylation factor-like protein 11 196 21.4 13 0 1 Leukemia, chronic lymphocytic 0 1 4 2005-11-08 Q96A47 ISL2_HUMAN ISL2 Insulin gene enhancer protein ISL-2 359 39.8 15 Nucleus 0 0 0 1 4 2002-05-15 Q96A73 P33MX_HUMAN KIAA1191 Putative monooxygenase p33MONOX 305 33.2 5 1.-.-.- Cytoplasm 0 0 0 1 4 2007-10-23 Q96AB3 ISOC2_HUMAN ISOC2 Isochorismatase domain-containing protein 2 205 22.3 19 Cytoplasm; Nucleus 0 0 0 1 4 2006-12-12 Q96BQ3 TRI43_HUMAN TRIM43 Tripartite motif-containing protein 43 446 52.3 2 Cytoplasm 0 0 0 1 4 2004-12-07 Q96BV0 ZN775_HUMAN ZNF775 Zinc finger protein 775 537 59.8 7 Nucleus 0 0 0 1 4 2007-03-20 Q96EK7 F120B_HUMAN FAM120B Constitutive coactivator of peroxisome proliferator-activated receptor gamma 910 103.8 6 Nucleus 0 0 0 1 4 2008-05-20 Q96EN9 REX1B_HUMAN REX1BD Required for excision 1-B domain-containing protein 201 22.6 19 0 0 0 1 4 2007-10-02 Q96GK7 FAH2A_HUMAN FAHD2A Oxaloacetate tautomerase FAHD2A, mitochondrial 314 34.6 2 5.3.2.2 Mitochondrion 0 0 0 1 4 2007-05-29 Q96J77 TPD55_HUMAN TPD52L3 Tumor protein D55 140 15.5 9 0 0 0 1 4 2007-07-24 Q96J88 ESIP1_HUMAN EPSTI1 Epithelial-stromal interaction protein 1 318 36.8 13 0 0 0 1 4 2008-01-15 Q96JK4 HIPL1_HUMAN HHIPL1 HHIP-like protein 1 782 86.7 14 Secreted 0 0 0 1 4 2008-01-15 Q96K49 TM87B_HUMAN TMEM87B Transmembrane protein 87B 555 63.5 2 Golgi apparatus membrane 7 0 0 1 4 2007-06-26 Q96KN1 LRAT2_HUMAN LRATD2 Protein LRATD2 310 34.5 8 0 0 0 1 4 2006-05-16 Q96KR1 ZFR_HUMAN ZFR Zinc finger RNA-binding protein 1074 117 5 Nucleus; Cytoplasm; Cytoplasmic granule; Chromosome 0 0 0 1 4 2007-12-04 Q96LW9 ZSC31_HUMAN ZSCAN31 Zinc finger and SCAN domain-containing protein 31 406 47.3 6 Nucleus 0 0 0 1 4 2002-09-19 Q96M83 CCDC7_HUMAN CCDC7 Coiled-coil domain-containing protein 7 1385 157.4 10 0 0 0 1 4 2004-06-07 Q96M89 CC138_HUMAN CCDC138 Coiled-coil domain-containing protein 138 665 76.2 2 0 0 0 1 4 2007-05-29 Q96M95 CCD42_HUMAN CCDC42 Coiled-coil domain-containing protein 42 316 38 17 Cytoplasm; Cell projection 0 0 0 1 4 2006-05-16 Q96ME1 FXL18_HUMAN FBXL18 F-box/LRR-repeat protein 18 718 78.9 7 0 0 0 1 4 2005-03-15 Q96PE5 OPALI_HUMAN OPALIN Opalin 141 15.7 10 Cell membrane 1 0 0 1 4 2002-05-10 Q96PQ7 KLHL5_HUMAN KLHL5 Kelch-like protein 5 755 84.5 4 Cytoplasm 0 0 0 1 4 2002-03-27 Q96SE0 ABHD1_HUMAN ABHD1 Protein ABHD1 405 45.2 2 3.1.1.- Membrane 1 0 0 1 4 2007-03-20 Q96SK3 ZN607_HUMAN ZNF607 Zinc finger protein 607 696 80.5 19 Nucleus 0 0 0 1 4 2004-04-13 Q99819 GDIR3_HUMAN ARHGDIG Rho GDP-dissociation inhibitor 3 225 25.1 16 Cytoplasm 0 0 0 1 4 1998-12-15 Q9BPW4 APOL4_HUMAN APOL4 Apolipoprotein L4 351 39.2 22 Secreted 0 0 0 1 4 2001-08-29 Q9BR84 ZN559_HUMAN ZNF559 Zinc finger protein 559 538 62.3 19 Nucleus 0 0 0 1 4 2005-12-06 Q9BRR8 GPTC1_HUMAN GPATCH1 G patch domain-containing protein 1 931 103.3 19 0 0 0 1 4 2007-05-15 Q9BRY0 S39A3_HUMAN SLC39A3 Zinc transporter ZIP3 314 33.6 19 Cell membrane; Apical cell membrane 8 0 0 1 4 2007-12-04 Q9BU23 LMF2_HUMAN LMF2 Lipase maturation factor 2 707 79.7 22 Endoplasmic reticulum membrane 11 0 0 1 4 2008-03-18 Q9BV19 CA050_HUMAN C1orf50 Uncharacterized protein C1orf50 199 21.9 1 0 0 0 1 4 2006-10-03 Q9BWM5 ZN416_HUMAN ZNF416 Zinc finger protein 416 594 67.2 19 Nucleus 0 0 0 1 4 2006-05-02 Q9BWW9 APOL5_HUMAN APOL5 Apolipoprotein L5 433 47 22 Cytoplasm 0 0 0 2 4 2001-08-29 Q9BX93 PG12B_HUMAN PLA2G12B Group XIIB secretory phospholipase A2-like protein 195 21.7 10 Secreted 0 0 0 1 4 2002-04-16 Q9C099 LRCC1_HUMAN LRRCC1 Leucine-rich repeat and coiled-coil domain-containing protein 1 1032 119.6 8 Cytoplasm 0 0 0 1 4 2008-05-20 Q9C0B6 BRNP2_HUMAN BRINP2 BMP/retinoic acid-inducible neural-specific protein 2 783 89 1 Secreted 0 0 0 1 4 2006-01-24 Q9GZM6 OR8D2_HUMAN OR8D2 Olfactory receptor 8D2 311 34.9 11 Cell membrane 7 0 0 2 4 2001-06-20 Q9GZP4 PITH1_HUMAN PITHD1 PITH domain-containing protein 1 211 24.2 1 Cytoplasm 0 0 0 1 4 2007-05-01 Q9H0C3 TM117_HUMAN TMEM117 Transmembrane protein 117 514 60.2 12 Cell membrane 8 0 0 1 4 2006-10-03 Q9H175 CSRN2_HUMAN CSRNP2 Cysteine/serine-rich nuclear protein 2 543 59.6 12 Nucleus 0 0 0 1 4 2005-07-19 Q9H208 O10A2_HUMAN OR10A2 Olfactory receptor 10A2 303 33.8 11 Cell membrane 7 0 0 2 4 2006-11-28 Q9H209 O10A4_HUMAN OR10A4 Olfactory receptor 10A4 315 35.1 11 Cell membrane 7 0 0 2 4 2001-06-20 Q9H2F9 CCD68_HUMAN CCDC68 Coiled-coil domain-containing protein 68 335 38.9 18 Cytoplasm 0 0 0 1 4 2006-12-12 Q9H336 CRLD1_HUMAN CRISPLD1 Cysteine-rich secretory protein LCCL domain-containing 1 500 56.9 8 Secreted 0 0 0 1 4 2006-09-05 Q9H342 O51J1_HUMAN OR51J1 Olfactory receptor 51J1 316 34.8 Cell membrane 7 0 0 3 4 2008-06-10 Q9H4G1 CST9L_HUMAN CST9L Cystatin-9-like 147 17.3 20 Secreted 0 0 0 1 4 2002-01-23 Q9H4I8 SEHL2_HUMAN SERHL2 Serine hydrolase-like protein 2 314 35.4 22 3.1.-.- Cytoplasm; Peroxisome 0 0 0 1 4 2002-06-06 Q9H568 ACTL8_HUMAN ACTL8 Actin-like protein 8 366 41.4 1 Cytoplasm 0 0 0 1 4 2007-05-01 Q9H6K4 OPA3_HUMAN OPA3 Optic atrophy 3 protein 179 20 19 Mitochondrion 0 2 3-methylglutaconic aciduria 3; Optic atrophy 3 0 1 4 2002-03-27 Q9H6X4 TM134_HUMAN TMEM134 Transmembrane protein 134 195 21.6 11 Membrane; Cytoplasm 2 0 0 1 4 2007-03-06 Q9H7R0 ZN442_HUMAN ZNF442 Zinc finger protein 442 627 72.9 19 Nucleus 0 0 0 1 4 2003-05-09 Q9H7R5 ZN665_HUMAN ZNF665 Zinc finger protein 665 678 77.6 19 Nucleus 0 0 0 1 4 2008-03-18 Q9H8J5 MANS1_HUMAN MANSC1 MANSC domain-containing protein 1 431 46.8 12 Membrane 1 0 0 1 4 2004-06-07 Q9H920 RN121_HUMAN RNF121 E3 ubiquitin ligase RNF121 327 37.9 11 2.3.2.27 Endoplasmic reticulum membrane 6 0 0 1 4 2006-11-28 Q9H930 SP14L_HUMAN SP140L Nuclear body protein SP140-like protein 580 67 2 0 0 0 1 4 2008-02-26 Q9H9H5 MA6D1_HUMAN MAP6D1 MAP6 domain-containing protein 1 199 21 3 Golgi apparatus; Cytoplasm 0 0 0 1 4 2007-01-09 Q9H9Y4 GPN2_HUMAN GPN2 GPN-loop GTPase 2 310 34.6 1 3.6.5.- Cytoplasm 0 0 0 1 4 2006-07-25 Q9HB40 RISC_HUMAN SCPEP1 Retinoid-inducible serine carboxypeptidase 452 50.8 17 3.4.16.- Secreted 0 0 0 1 4 2003-02-28 Q9HBA9 FOH1B_HUMAN FOLH1B Putative N-acetylated-alpha-linked acidic dipeptidase 442 50 3.4.-.- Cytoplasm 0 0 0 1 4 2006-10-31 Q9HCG1 ZN160_HUMAN ZNF160 Zinc finger protein 160 818 94.1 19 Nucleus 0 0 0 1 4 2002-02-21 Q9NQN1 OR2S1_HUMAN OR2S2 Olfactory receptor 2S2 319 35.2 9 Cell membrane 7 0 0 1 4 2001-06-20 Q9NQS1 AVEN_HUMAN AVEN Cell death regulator Aven 362 38.5 15 Endomembrane system 0 0 0 1 4 2002-05-02 Q9NRX3 CX4L2_HUMAN COXFA4L2 Cytochrome c oxidase hypoxia associated subunit FA4L2 87 10 12 Mitochondrion inner membrane 1 0 0 1 4 2002-09-19 Q9NUP1 BL1S4_HUMAN BLOC1S4 Biogenesis of lysosome-related organelles complex 1 subunit 4 217 23.4 4 Cytoplasm 0 0 0 1 4 2003-08-29 Q9NV72 ZN701_HUMAN ZNF701 Zinc finger protein 701 531 60.9 19 Nucleus 0 0 0 1 4 2006-05-02 Q9NVF9 EKI2_HUMAN ETNK2 Ethanolamine kinase 2 386 44.8 1 2.7.1.82 0 0 0 1 4 2001-06-01 Q9NVG8 TBC13_HUMAN TBC1D13 TBC1 domain family member 13 400 46.6 9 Membrane; Cytoplasm 0 0 0 1 4 2004-02-16 Q9NW81 DMAC2_HUMAN DMAC2 Distal membrane-arm assembly complex protein 2 257 29.3 19 Mitochondrion 0 0 0 1 4 2008-02-26 Q9NXL2 ARH38_HUMAN ARHGEF38 Rho guanine nucleotide exchange factor 38 777 89.1 4 0 0 0 1 4 2008-02-26 Q9NYF5 FA13B_HUMAN FAM13B Protein FAM13B 915 104.5 5 0 0 0 1 4 2003-04-11 Q9NYV9 T2R13_HUMAN TAS2R13 Taste receptor type 2 member 13 303 35.1 12 Membrane 7 0 0 1 4 2003-04-11 Q9NYW6 TA2R3_HUMAN TAS2R3 Taste receptor type 2 member 3 316 35.9 7 Membrane 7 0 0 2 4 2003-04-11 Q9NYW7 TA2R1_HUMAN TAS2R1 Taste receptor type 2 member 1 299 34.3 5 Membrane 7 0 0 1 4 2003-04-11 Q9NZQ9 TMOD4_HUMAN TMOD4 Tropomodulin-4 345 39.3 1 Cytoplasm 0 0 0 1 4 2002-09-19 Q9NZW5 PALS2_HUMAN PALS2 Protein PALS2 540 61.1 7 Membrane 0 0 0 1 4 2003-01-10 Q9P0M4 IL17C_HUMAN IL17C Interleukin-17C 197 21.8 16 Secreted 0 0 0 1 4 2002-01-31 Q9P1U1 ARP3B_HUMAN ACTR3B Actin-related protein 3B 418 47.6 7 Cytoplasm; Cell projection 0 0 0 1 4 2008-07-22 Q9P1Y6 PHRF1_HUMAN PHRF1 PHD and RING finger domain-containing protein 1 1649 178.7 11 0 0 0 1 4 2007-02-20 Q9P2G3 KLH14_HUMAN KLHL14 Kelch-like protein 14 628 70.7 18 Cytoplasm; Endoplasmic reticulum membrane 0 0 0 1 4 2001-06-01 Q9P2J8 ZN624_HUMAN ZNF624 Zinc finger protein 624 865 99.9 17 Nucleus 0 0 0 1 4 2002-01-23 Q9UBK7 RBL2A_HUMAN RABL2A Rab-like protein 2A 228 26.1 2 3.6.5.2 0 0 0 1 4 2000-12-01 Q9UH62 ARMX3_HUMAN ARMCX3 Armadillo repeat-containing X-linked protein 3 379 42.5 X Mitochondrion outer membrane; Cytoplasm; Nucleus 1 0 0 1 4 2005-12-20 Q9UHP9 SMPX_HUMAN SMPX Small muscular protein 88 9.6 X 0 2 Deafness, X-linked, 4; Myopathy, distal, 7, adult-onset, X-linked 0 1 4 2000-12-01 Q9UIM3 FKBPL_HUMAN FKBPL FK506-binding protein-like 349 38.2 6 0 0 0 1 4 2007-05-29 Q9UJ04 TSYL4_HUMAN TSPYL4 Testis-specific Y-encoded-like protein 4 414 45.1 6 0 0 0 1 4 2003-08-15 Q9UK85 DKKL1_HUMAN DKKL1 Dickkopf-like protein 1 242 27 19 Secreted; Cytoplasmic vesicle 0 0 0 1 4 2001-02-21 Q9UKH3 ENK9_HUMAN ERVK-9 Endogenous retrovirus group K member 9 Env polyprotein 698 79 Cell membrane 1 0 0 1 4 2004-05-24 Q9ULE3 DEN2A_HUMAN DENND2A DENN domain-containing protein 2A 1009 113.9 7 Cytoplasm 0 0 0 1 4 2006-06-27 Q9UPW0 FOXJ3_HUMAN FOXJ3 Forkhead box protein J3 622 69 1 Nucleus 0 0 0 1 4 2000-05-30 Q9Y3X0 CCDC9_HUMAN CCDC9 Coiled-coil domain-containing protein 9 531 59.7 19 0 0 0 1 4 2004-07-19 Q9Y543 HES2_HUMAN HES2 Transcription factor HES-2 173 18.5 1 Nucleus 0 0 0 1 4 2000-12-01 Q9Y5E2 PCDB7_HUMAN PCDHB7 Protocadherin beta-7 793 86.7 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5E8 PCDBF_HUMAN PCDHB15 Protocadherin beta-15 787 86.3 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5G5 PCDG8_HUMAN PCDHGA8 Protocadherin gamma-A8 932 101.5 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5G7 PCDG6_HUMAN PCDHGA6 Protocadherin gamma-A6 932 100.9 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5H2 PCDGB_HUMAN PCDHGA11 Protocadherin gamma-A11 935 101.5 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5H6 PCDA8_HUMAN PCDHA8 Protocadherin alpha-8 950 103.1 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5Z6 B3GT1_HUMAN B3GALT1 Beta-1,3-galactosyltransferase 1 326 38 2 2.4.1.86 Golgi apparatus membrane 1 0 0 1 4 2005-03-15 Q9Y6I0 VPK6_HUMAN ERVK-6 Endogenous retrovirus group K member 6 Pro protein 156 17 0 0 0 3 4 2004-09-13 Q9Y6I8 PXMP4_HUMAN PXMP4 Peroxisomal membrane protein 4 212 24.3 20 Peroxisome membrane 2 0 0 1 4 2003-02-28 Q9YNA8 GAK19_HUMAN ERVK-19 Endogenous retrovirus group K member 19 Gag polyprotein 666 74.2 Cell membrane 0 0 0 1 4 2004-07-19 A0A1B0GV85 RELD1_HUMAN REELD1 Reelin domain-containing protein 1 526 56.8 4 Membrane 1 0 0 1 4 2018-02-28 A1L188 NDUF8_HUMAN NDUFAF8 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 8 74 7.8 17 Mitochondrion 0 1 Mitochondrial complex I deficiency, nuclear type 34 0 1 4 2007-09-11 A1YPR0 ZBT7C_HUMAN ZBTB7C Zinc finger and BTB domain-containing protein 7C 619 69 18 0 0 0 1 4 2008-06-10 A4D2B8 PM2P1_HUMAN PMS2P1 Putative postmeiotic segregation increased 2-like protein 1 440 47.5 0 0 0 5 4 2007-11-13 A6NDA9 LRIT2_HUMAN LRIT2 Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2 550 60.2 10 Membrane 1 0 0 1 4 2007-11-13 A6NF83 NUPR2_HUMAN NUPR2 Nuclear protein 2 97 11.4 7 Nucleus 0 0 0 1 4 2008-09-02 A6NFD8 HELT_HUMAN HELT Hairy and enhancer of split-related protein HELT 242 26.9 4 Nucleus 0 0 0 2 4 2008-09-02 A6NGE7 URAD_HUMAN URAD Putative 2-oxo-4-hydroxy-4-carboxy-5-ureidoimidazoline decarboxylase 173 19.1 13 4.1.1.97 Peroxisome 0 0 0 5 4 2008-01-15 A6NHL2 TBAL3_HUMAN TUBAL3 Tubulin alpha chain-like 3 446 49.9 10 3.6.5.- Cytoplasm 0 0 0 1 4 2008-01-15 A6NI79 CCD69_HUMAN CCDC69 Coiled-coil domain-containing protein 69 296 34.8 5 Cytoplasm; Midbody 0 0 0 1 4 2008-04-08 A6NJ46 NKX63_HUMAN NKX6-3 Homeobox protein Nkx-6.3 265 28.9 8 Nucleus 0 0 0 1 4 2007-11-13 A6NLW8 DUXA_HUMAN DUXA Double homeobox protein A 204 23.8 19 Nucleus 0 0 0 2 4 2007-11-13 A6NNE9 MARHB_HUMAN MARCHF11 E3 ubiquitin-protein ligase MARCHF11 402 43.9 5 2.3.2.27 Cytoplasmic vesicle membrane 2 0 0 1 4 2008-06-10 A8MWX3 WASH4_HUMAN WASH4P Putative WAS protein family homolog 4 477 51.6 Early endosome membrane; Recycling endosome membrane 0 0 0 5 4 2008-04-29 B2RC85 R10B2_HUMAN RSPH10B2 Radial spoke head 10 homolog B2 870 100.5 7 Cytoplasm; Cell projection 0 0 0 1 4 2008-09-02 B2RU33 POTEC_HUMAN POTEC POTE ankyrin domain family member C 542 61.2 18 0 0 0 1 4 2008-07-22 B2RXH8 HNRC2_HUMAN HNRNPCL2 Heterogeneous nuclear ribonucleoprotein C-like 2 293 32.1 1 Nucleus 0 0 0 1 4 2014-10-01 B9EJG8 T150C_HUMAN TMEM150C Transmembrane protein 150C 249 27.9 4 Cell membrane; Lysosome membrane 6 0 0 1 4 2010-06-15 O00295 TULP2_HUMAN TULP2 Tubby-related protein 2 520 58.7 19 Cytoplasm; Secreted 0 0 0 1 4 2000-05-30 O14599 VCY2_HUMAN BPY2 Testis-specific basic protein Y 2 106 12.1 Y 0 0 0 1 4 1999-07-15 O14841 OPLA_HUMAN OPLAH 5-oxoprolinase 1288 137.5 8 3.5.2.9 Cytoplasm 0 1 5-oxoprolinase deficiency 0 1 4 1998-12-15 O15403 MOT7_HUMAN SLC16A6 Monocarboxylate transporter 7 523 57.4 17 Basolateral cell membrane 12 0 0 1 4 2000-05-30 O43301 HS12A_HUMAN HSPA12A Heat shock 70 kDa protein 12A 675 75 10 Cytoplasm; Nucleus 0 0 0 1 4 2001-02-21 O43692 PI15_HUMAN PI15 Peptidase inhibitor 15 258 29.1 8 Secreted 0 0 0 1 4 2007-05-15 O43934 MFS11_HUMAN MFSD11 UNC93-like protein MFSD11 449 49.2 17 Membrane 12 0 0 1 4 2007-10-02 O60676 CST8_HUMAN CST8 Cystatin-8 142 16.3 20 Secreted 0 0 0 1 4 2000-05-30 O75123 ZN623_HUMAN ZNF623 Zinc finger protein 623 536 61.4 8 Nucleus 0 0 0 1 4 2001-10-18 O75363 BCAS1_HUMAN BCAS1 Breast carcinoma-amplified sequence 1 584 61.7 20 Cytoplasm 0 0 0 1 4 2001-01-24 O75437 ZN254_HUMAN ZNF254 Zinc finger protein 254 659 77.2 19 Nucleus 0 0 0 1 4 2001-01-24 O75678 RFPL2_HUMAN RFPL2 Ret finger protein-like 2 378 42.1 22 0 0 0 1 4 2001-09-26 O75690 KRA58_HUMAN KRTAP5-8 Keratin-associated protein 5-8 187 17.5 11 0 0 0 1 4 2000-12-01 O75764 TCEA3_HUMAN TCEA3 Transcription elongation factor A protein 3 348 39 1 Nucleus 0 0 0 1 4 2003-02-12 O75830 SPI2_HUMAN SERPINI2 Serpin I2 405 46.1 3 Secreted 0 0 0 1 4 2002-01-23 O75953 DNJB5_HUMAN DNAJB5 DnaJ homolog subfamily B member 5 348 39.1 9 0 0 0 1 4 2001-10-18 O75995 SASH3_HUMAN SASH3 SAM and SH3 domain-containing protein 3 380 41.6 X 0 1 Immunodeficiency 102 0 1 4 2003-10-24 O76002 OR2J2_HUMAN OR2J2 Olfactory receptor 2J2 312 35.2 6 Cell membrane 7 0 0 2 4 2001-06-20 O76009 KT33A_HUMAN KRT33A Keratin, type I cuticular Ha3-I 404 45.9 17 0 0 0 1 4 2000-05-30 O94854 K0754_HUMAN MACF1 Microtubule-actin cross-linking factor 1, isoforms 6/7 3515 388.7 Cytoplasm 0 0 0 1 4 2007-07-24 O95096 NKX22_HUMAN NKX2-2 Homeobox protein Nkx-2.2 273 30.1 20 Nucleus 0 0 0 1 4 1999-07-15 P01611 KVD12_HUMAN IGKV1D-12 Immunoglobulin kappa variable 1D-12 117 12.6 2 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01624 KV315_HUMAN IGKV3-15 Immunoglobulin kappa variable 3-15 115 12.5 2 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01703 LV140_HUMAN IGLV1-40 Immunoglobulin lambda variable 1-40 118 12.3 22 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01718 LV327_HUMAN IGLV3-27 Immunoglobulin lambda variable 3-27 113 12.2 22 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01766 HV313_HUMAN IGHV3-13 Immunoglobulin heavy variable 3-13 116 12.5 14 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01767 HV353_HUMAN IGHV3-53 Immunoglobulin heavy variable 3-53 116 12.8 14 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01782 HV309_HUMAN IGHV3-9 Immunoglobulin heavy variable 3-9 118 12.9 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P04430 KV116_HUMAN IGKV1-16 Immunoglobulin kappa variable 1-16 117 12.6 2 Secreted; Cell membrane 0 0 0 1 4 1987-08-13 P0C7H8 KRA23_HUMAN KRTAP2-3 Keratin-associated protein 2-3 128 13.5 17 0 0 0 1 4 2008-04-29 P0C7M7 ACSM4_HUMAN ACSM4 Acyl-coenzyme A synthetase ACSM4, mitochondrial 580 65.7 12 6.2.1.2 Mitochondrion 0 0 0 1 4 2008-06-10 P0C862 C1T9A_HUMAN C1QTNF9 Complement C1q and tumor necrosis factor-related protein 9A 333 34.7 13 Secreted 0 0 0 1 4 2008-09-02 P0CI25 TRI49_HUMAN TRIM49 Tripartite motif-containing protein 49 452 52.9 11 0 0 0 1 4 2010-11-02 P0DJI9 SAA2_HUMAN SAA2 Serum amyloid A-2 protein 122 13.5 11 Secreted 0 0 0 1 4 2012-07-11 P10072 ZN875_HUMAN ZNF875 Zinc finger protein 875 659 75.1 19 Nucleus 0 0 0 1 4 1989-07-01 P10266 POK10_HUMAN ERVK-10 Endogenous retrovirus group K member 10 Pol protein 1014 114.8 0 0 0 3 4 1989-07-01 P15088 CBPA3_HUMAN CPA3 Mast cell carboxypeptidase A 417 48.7 3 3.4.17.1 Cytoplasmic vesicle 0 0 0 1 4 1990-04-01 P15621 ZNF44_HUMAN ZNF44 Zinc finger protein 44 663 76.5 19 Nucleus 0 0 0 1 4 1990-04-01 P17026 ZNF22_HUMAN ZNF22 Zinc finger protein 22 224 25.9 10 Nucleus 0 0 0 1 4 1990-08-01 P17031 ZNF26_HUMAN ZNF26 Zinc finger protein 26 533 61.3 12 Nucleus 0 0 0 1 4 1990-08-01 P30953 OR1E1_HUMAN OR1E1 Olfactory receptor 1E1 314 35.3 17 Cell membrane 7 0 0 3 4 1993-07-01 P35325 SPR2B_HUMAN SPRR2B Small proline-rich protein 2B 72 8 1 Cytoplasm 0 0 0 2 4 1994-02-01 P47893 OR3A2_HUMAN OR3A2 Olfactory receptor 3A2 321 35.2 17 Cell membrane 7 0 0 2 4 1996-02-01 P49640 EVX1_HUMAN EVX1 Homeobox even-skipped homolog protein 1 407 42.4 7 Nucleus 0 0 0 1 4 1996-02-01 P51508 ZNF81_HUMAN ZNF81 Zinc finger protein 81 661 76 X Nucleus 0 0 0 1 4 1996-10-01 P52951 GBX2_HUMAN GBX2 Homeobox protein GBX-2 348 37.3 2 Nucleus 0 0 0 1 4 1996-10-01 P55103 INHBC_HUMAN INHBC Inhibin beta C chain 352 38.2 12 Secreted 0 0 0 1 4 1996-10-01 P58182 O12D2_HUMAN OR12D2 Olfactory receptor 12D2 307 34.8 6 Cell membrane 7 0 0 2 4 2001-06-20 P58294 PROK1_HUMAN PROK1 Prokineticin-1 105 11.7 1 Secreted 0 0 0 1 4 2001-09-26 P58549 FXYD7_HUMAN FXYD7 FXYD domain-containing ion transport regulator 7 80 8.5 19 Cell membrane 1 0 0 1 4 2002-01-23 P59025 RTP1_HUMAN RTP1 Receptor-transporting protein 1 263 30.9 3 Cell membrane 1 0 0 1 4 2002-10-10 P59045 NAL11_HUMAN NLRP11 NACHT, LRR and PYD domains-containing protein 11 1033 117.8 19 0 0 0 1 4 2002-10-19 P59533 T2R38_HUMAN TAS2R38 Taste receptor type 2 member 38 333 37.9 7 Membrane 7 0 0 2 4 2003-04-11 P59537 T2R43_HUMAN TAS2R43 Taste receptor type 2 member 43 309 35.6 12 Membrane; Cell projection 7 0 0 2 4 2003-04-11 P59543 T2R20_HUMAN TAS2R20 Taste receptor type 2 member 20 309 35.4 12 Membrane 7 0 0 2 4 2003-04-11 P60509 ERB1_HUMAN ERVPABLB-1 Endogenous retrovirus group PABLB member 1 Env polyprotein 514 58.5 Cell membrane 1 0 0 2 4 2004-03-01 P61565 ENK21_HUMAN ERVK-21 Endogenous retrovirus group K member 21 Env polyprotein 698 79.2 Cell membrane 1 0 0 1 4 2004-05-24 P61566 ENK24_HUMAN ERVK-24 Endogenous retrovirus group K member 24 Env polyprotein 588 66.6 Cell membrane 1 0 0 2 4 2004-05-24 P62684 GA113_HUMAN HERVK_113 Endogenous retrovirus group K member 113 Gag polyprotein 666 74.2 Cell membrane 0 0 0 1 4 2004-07-19 P63126 GAK9_HUMAN ERVK-9 Endogenous retrovirus group K member 9 Gag polyprotein 666 74 Cell membrane 0 0 0 1 4 2004-09-13 P63133 POK8_HUMAN ERVK-8 Endogenous retrovirus group K member 8 Pol protein 956 107.7 0 0 0 3 4 2004-09-13 P78414 IRX1_HUMAN IRX1 Iroquois-class homeodomain protein IRX-1 480 49.6 5 Nucleus 0 0 0 1 4 1998-07-15 Q06732 ZN33B_HUMAN ZNF33B Zinc finger protein 33B 778 90.7 10 Nucleus 0 0 0 1 4 1996-10-01 Q07507 DERM_HUMAN DPT Dermatopontin 201 24 1 Secreted 0 0 0 1 4 1996-10-01 Q0D2J5 ZN763_HUMAN ZNF763 Zinc finger protein 763 394 46.1 19 Nucleus 0 0 0 1 4 2008-04-29 Q0ZLH3 PJVK_HUMAN PJVK Pejvakin 352 39.9 2 Peroxisome membrane; Cell projection 0 1 Deafness, autosomal recessive, 59 0 1 4 2006-09-05 Q13442 HAP28_HUMAN PDAP1 28 kDa heat- and acid-stable phosphoprotein 181 20.6 7 0 0 0 1 4 1997-11-01 Q13474 DRP2_HUMAN DRP2 Dystrophin-related protein 2 957 108 X Postsynaptic density; Cell projection; Perikaryon; Cell membrane 0 0 0 1 4 1997-11-01 Q13606 OR5I1_HUMAN OR5I1 Olfactory receptor 5I1 314 36 11 Cell membrane 7 0 0 2 4 1997-11-01 Q14201 BTG3_HUMAN BTG3 Protein BTG3 252 29.1 21 0 0 0 1 4 1997-11-01 Q14590 ZN235_HUMAN ZNF235 Zinc finger protein 235 738 84 19 Nucleus 0 0 0 1 4 2000-12-01 Q14641 INSL4_HUMAN INSL4 Early placenta insulin-like peptide 139 15.4 9 Secreted 0 0 0 1 4 1997-11-01 Q15612 OR1Q1_HUMAN OR1Q1 Olfactory receptor 1Q1 314 35.6 9 Cell membrane 7 0 0 2 4 2001-06-20 Q15847 ADIRF_HUMAN ADIRF Adipogenesis regulatory factor 76 7.9 10 Nucleus 0 0 0 1 4 2000-12-01 Q15935 ZNF77_HUMAN ZNF77 Zinc finger protein 77 545 62 19 Nucleus 0 0 0 1 4 2002-11-08 Q15937 ZNF79_HUMAN ZNF79 Zinc finger protein 79 498 55.4 9 Nucleus 0 0 0 1 4 2001-10-18 Q16527 CSRP2_HUMAN CSRP2 Cysteine and glycine-rich protein 2 193 21 12 Nucleus 0 0 0 1 4 1997-11-01 Q17RB0 RTL8B_HUMAN RTL8B Retrotransposon Gag-like protein 8B 113 13.2 X 0 0 0 1 4 2007-11-13 Q17RN3 FA98C_HUMAN FAM98C Protein FAM98C 349 37.3 19 0 0 0 1 4 2007-04-03 Q17RY6 LY6K_HUMAN LY6K Lymphocyte antigen 6K 165 18.7 8 Secreted; Cytoplasm; Cell membrane; Cytoplasmic vesicle; Membrane raft 0 0 0 1 4 2008-05-20 Q1L6U9 MSMP_HUMAN MSMP Prostate-associated microseminoprotein 139 15 9 Secreted 0 0 0 1 4 2008-06-10 Q2KHR3 QSER1_HUMAN QSER1 Glutamine and serine-rich protein 1 1735 190 11 Chromosome 0 0 0 1 4 2007-05-29 Q2M2H8 MGAL_HUMAN MGAM2 Probable maltase-glucoamylase 2 2515 278 7 Membrane 1 0 0 1 4 2008-06-10 Q2NL68 PRSR3_HUMAN PROSER3 Proline and serine-rich protein 3 480 51.1 19 Cytoplasm 0 0 0 1 4 2007-09-11 Q2T9K0 TMM44_HUMAN TMEM44 Transmembrane protein 44 475 52.2 3 Membrane 7 0 0 1 4 2007-04-17 Q32MH5 ATOSA_HUMAN ATOSA Atos homolog protein A 1076 121.7 15 Nucleus 0 0 0 1 4 2008-01-15 Q3KQZ1 S2535_HUMAN SLC25A35 Solute carrier family 25 member 35 300 32.4 17 Mitochondrion inner membrane 6 0 0 1 4 2007-06-26 Q3LI77 KR134_HUMAN KRTAP13-4 Keratin-associated protein 13-4 160 17.8 21 0 0 0 1 4 2005-11-22 Q3MIN7 RGL3_HUMAN RGL3 Ral guanine nucleotide dissociation stimulator-like 3 710 78.1 19 0 0 0 1 4 2007-10-02 Q3SXZ7 TTLL9_HUMAN TTLL9 Probable tubulin polyglutamylase TTLL9 439 51.5 20 6.3.2.- Cytoplasm 0 0 0 1 4 2008-03-18 Q3SY17 S2552_HUMAN SLC25A52 Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52 297 33.7 18 Mitochondrion inner membrane 6 0 0 1 4 2007-01-09 Q4G1C9 GRPL2_HUMAN GLIPR1L2 GLIPR1-like protein 2 344 40.2 12 Membrane 1 0 0 1 4 2008-03-18 Q4VX76 SYTL3_HUMAN SYTL3 Synaptotagmin-like protein 3 610 68.6 6 Endomembrane system 0 0 0 1 4 2007-11-13 Q4ZIN3 MBRL_HUMAN TMEM259 Membralin 620 67.9 19 Endoplasmic reticulum membrane 4 0 0 1 4 2005-07-05 Q50KZ9 TA2R2_HUMAN TAS2R2 Taste receptor type 2 member 2 303 34.8 Cell membrane 7 0 0 3 4 2024-10-02 Q52MB2 CC184_HUMAN CCDC184 Coiled-coil domain-containing protein 184 194 20.5 12 0 0 0 1 4 2008-05-20 Q52WX2 SBK1_HUMAN SBK1 Serine/threonine-protein kinase SBK1 424 46.3 16 2.7.11.1 Cytoplasm 0 0 0 1 4 2006-05-30 Q53H54 TYW2_HUMAN TYW2 tRNA wybutosine-synthesizing protein 2 homolog 448 50.2 8 2.5.1.114 0 0 0 1 4 2007-04-03 Q53QW1 TEX44_HUMAN TEX44 Testis-expressed protein 44 395 41.6 2 Cytoplasm 0 0 0 1 4 2007-11-13 Q53RD9 FBLN7_HUMAN FBLN7 Fibulin-7 439 47.4 2 Secreted 0 0 0 1 4 2008-01-15 Q587J7 TDR12_HUMAN TDRD12 Putative ATP-dependent RNA helicase TDRD12 1177 132.6 19 3.6.4.13 0 0 0 1 4 2007-12-04 Q58FF8 H90B2_HUMAN HSP90AB2P Putative heat shock protein HSP 90-beta 2 381 44.3 Cytoplasm 0 0 0 1 4 2008-06-10 Q58G82 SY14L_HUMAN SYT14P1 Putative synaptotagmin-14-like protein 188 21.4 0 0 0 5 4 2008-02-05 Q5H9L4 TAF7L_HUMAN TAF7L Transcription initiation factor TFIID subunit 7-like 462 52.6 X Nucleus; Cytoplasm 0 0 0 1 4 2007-10-23 Q5H9T9 FSCB_HUMAN FSCB Fibrous sheath CABYR-binding protein 825 88 14 Cell projection 0 0 0 1 4 2005-08-30 Q5HYL7 TM196_HUMAN TMEM196 Transmembrane protein 196 178 19 7 Cytoplasm; Membrane 4 0 0 1 4 2008-02-05 Q5JR12 PPM1J_HUMAN PPM1J Protein phosphatase 1J 505 54.8 1 3.1.3.16 0 0 0 1 4 2007-05-29 Q5JT82 KLF17_HUMAN KLF17 Krueppel-like factor 17 389 42.6 1 Nucleus 0 0 0 1 4 2005-11-08 Q5JWR5 DOP1A_HUMAN DOP1A Protein DOP1A 2465 277.4 6 Golgi apparatus membrane 0 0 0 1 4 2007-08-21 Q5MJ09 SPXN3_HUMAN SPANXN3 Sperm protein associated with the nucleus on the X chromosome N3 141 15.6 X 0 0 0 1 4 2007-05-01 Q5QGS0 NEXMI_HUMAN NEXMIF Neurite extension and migration factor 1516 167.6 X Nucleus; Cytoplasm 0 1 Intellectual developmental disorder, X-linked 98 0 1 4 2006-10-31 Q5QJ74 TBCEL_HUMAN TBCEL Tubulin-specific chaperone cofactor E-like protein 424 48.2 11 Cytoplasm 0 0 0 1 4 2006-06-13 Q5SRN2 TSBP1_HUMAN TSBP1 Testis-expressed basic protein 1 563 61.6 6 Membrane 2 0 0 1 4 2005-07-19 Q5T2L2 AKCL1_HUMAN AKR1C8 Aldo-keto reductase family 1 member C8 326 37.1 10 1.1.1.- Cytoplasm 0 0 0 1 4 2007-05-15 Q5T6L9 EMARD_HUMAN ERMARD Endoplasmic reticulum membrane-associated RNA degradation protein 678 77.8 6 Endoplasmic reticulum membrane 2 1 Periventricular nodular heterotopia 6 0 1 4 2007-07-24 Q5TAH2 SL9C2_HUMAN SLC9C2 Sodium/hydrogen exchanger 11 1124 129.1 1 Membrane 15 0 0 1 4 2007-07-24 Q5TYW1 ZN658_HUMAN ZNF658 Zinc finger protein 658 1059 122.3 9 Nucleus 0 0 0 1 4 2007-03-20 Q5U623 MCAF2_HUMAN ATF7IP2 Activating transcription factor 7-interacting protein 2 682 75.8 16 Nucleus 0 0 0 1 4 2007-04-03 Q5VTQ0 TT39B_HUMAN TTC39B Tetratricopeptide repeat protein 39B 682 77 9 0 0 0 1 4 2007-06-26 Q5VVH5 IKBP1_HUMAN IRAK1BP1 Interleukin-1 receptor-associated kinase 1-binding protein 1 260 29.1 6 Cytoplasm; Nucleus 0 0 0 1 4 2008-01-15 Q5W0U4 BSPRY_HUMAN BSPRY B box and SPRY domain-containing protein 402 44.4 9 Cytoplasm; Membrane 0 0 0 1 4 2006-06-27 Q63HK3 ZKSC2_HUMAN ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 967 110.9 16 Nucleus 0 0 0 1 4 2006-05-02 Q68D51 DEN2C_HUMAN DENND2C DENN domain-containing protein 2C 928 106.9 1 0 0 0 1 4 2006-06-27 Q68DH5 LMBD2_HUMAN LMBRD2 G protein-coupled receptor-associated protein LMBRD2 695 81.2 5 Cell membrane 9 1 Developmental delay with variable neurologic and brain abnormalities 0 1 4 2007-08-21 Q68DN1 S31H1_HUMAN SPATA31H1 Spermatogenesis-associated protein 31H1 1984 224.3 2 0 0 0 1 4 2007-04-03 Q6A555 TXND8_HUMAN TXNDC8 Thioredoxin domain-containing protein 8 127 14.6 9 Cytoplasm; Golgi apparatus 0 0 0 1 4 2005-07-05 Q6IPR3 TYW3_HUMAN TYW3 tRNA wybutosine-synthesizing protein 3 homolog 259 29.8 1 2.1.1.282 0 0 0 1 4 2007-04-03 Q6ISS4 LAIR2_HUMAN LAIR2 Leukocyte-associated immunoglobulin-like receptor 2 152 16.3 19 Secreted 0 0 0 1 4 2006-10-03 Q6NVV7 CDPF1_HUMAN CDPF1 Cysteine-rich DPF motif domain-containing protein 1 123 13.9 22 0 0 0 1 4 2008-06-10 Q6P4A7 SFXN4_HUMAN SFXN4 Sideroflexin-4 337 38 10 Mitochondrion inner membrane 5 1 Combined oxidative phosphorylation deficiency 18 0 1 4 2005-07-19 Q6P5S2 LEG1H_HUMAN LEG1 Protein LEG1 homolog 330 37.9 6 Secreted 0 0 0 1 4 2006-10-17 Q6PEY0 CXB7_HUMAN GJB7 Gap junction beta-7 protein 223 25.9 6 Cell membrane; Cell junction 4 0 0 1 4 2007-01-09 Q6PF04 ZN613_HUMAN ZNF613 Zinc finger protein 613 617 70.1 19 Nucleus 0 0 0 1 4 2006-05-16 Q6PIS1 S23A3_HUMAN SLC23A3 Solute carrier family 23 member 3 610 64.5 2 Membrane 12 0 0 1 4 2008-05-20 Q6RSH7 VHLL_HUMAN VHLL von Hippel-Lindau-like protein 139 15.8 1 0 0 0 1 4 2006-12-12 Q6T310 RSLBA_HUMAN RASL11A Ras-like protein family member 11A 242 27 13 3.6.5.2 Nucleus 0 0 0 1 4 2007-10-23 Q6UWL2 SUSD1_HUMAN SUSD1 Sushi domain-containing protein 1 747 82.7 9 Membrane 1 0 0 1 4 2006-10-03 Q6UWM5 GPRL1_HUMAN GLIPR1L1 GLIPR1-like protein 1 242 27.2 12 Cytoplasmic vesicle; Cell membrane; Membrane raft; Secreted 0 0 0 1 4 2007-01-23 Q6UWT2 ENHO_HUMAN ENHO Adropin 76 7.9 9 Secreted 0 0 0 1 4 2007-06-26 Q6UX07 DHR13_HUMAN DHRS13 Dehydrogenase/reductase SDR family member 13 377 40.8 17 1.1.-.- Secreted 0 0 0 1 4 2007-12-04 Q6UXA7 CF015_HUMAN C6orf15 Uncharacterized protein C6orf15 325 34.2 6 Secreted 0 0 0 1 4 2005-07-19 Q6UXE8 BTNL3_HUMAN BTNL3 Butyrophilin-like protein 3 466 52.3 5 Membrane 1 0 0 1 4 2005-02-01 Q6UXH9 PAMR1_HUMAN PAMR1 Inactive serine protease PAMR1 720 80.2 11 Secreted 0 0 0 1 4 2007-05-15 Q6UXK5 LRRN1_HUMAN LRRN1 Leucine-rich repeat neuronal protein 1 716 80.7 3 Membrane 1 0 0 1 4 2005-03-01 Q6UXU4 GSG1L_HUMAN GSG1L Germ cell-specific gene 1-like protein 331 36.8 16 Cell membrane; Synapse 4 0 0 1 4 2008-04-29 Q6UY11 DLK2_HUMAN DLK2 Protein delta homolog 2 383 40.5 6 Membrane 1 0 0 1 4 2004-10-25 Q6X784 ZPBP2_HUMAN ZPBP2 Zona pellucida-binding protein 2 338 38.7 17 Cytoplasmic vesicle; Secreted 0 0 0 1 4 2004-10-11 Q6XYB7 LBX2_HUMAN LBX2 Transcription factor LBX2 198 21.5 2 Nucleus 0 0 0 1 4 2007-11-13 Q6YFQ2 CX6B2_HUMAN COX6B2 Cytochrome c oxidase subunit 6B2 88 10.5 19 Mitochondrion inner membrane 0 0 0 1 4 2005-10-11 Q6ZMR3 LDH6A_HUMAN LDHAL6A L-lactate dehydrogenase A-like 6A 332 36.5 11 1.1.1.27 Cytoplasm 0 0 0 1 4 2004-08-16 Q6ZN11 ZN793_HUMAN ZNF793 Zinc finger protein 793 406 46.9 19 Nucleus 0 0 0 1 4 2007-07-10 Q6ZRH7 CTSRG_HUMAN CATSPERG Cation channel sperm-associated auxiliary subunit gamma 1159 133 19 Cell projection 1 0 0 1 4 2005-08-16 Q6ZRI8 RHG36_HUMAN ARHGAP36 Rho GTPase-activating protein 36 547 61.7 X 0 1 Bazex-Dupre-Christol syndrome 0 1 4 2006-10-31 Q6ZS27 ZN662_HUMAN ZNF662 Zinc finger protein 662 426 48.5 3 Nucleus 0 0 0 1 4 2006-10-03 Q6ZSG2 INSY2_HUMAN INSYN2A Inhibitory synaptic factor 2A 479 52.9 10 Postsynaptic density 0 0 0 1 4 2008-04-08 Q6ZTI6 RFLA_HUMAN RFLNA Refilin-A 216 23.6 12 Cytoplasm 0 0 0 1 4 2007-02-06 Q70IA8 MOB3C_HUMAN MOB3C MOB kinase activator 3C 216 25.6 1 0 0 0 1 4 2004-12-21 Q71RH2 TLC3B_HUMAN TLCD3B Ceramide synthase 274 30.6 16 2.3.1.- Golgi apparatus membrane 4 1 Cone-rod dystrophy 22 0 1 4 2005-04-12 Q7L3S4 ZN771_HUMAN ZNF771 Zinc finger protein 771 317 35.7 16 Nucleus 0 0 0 1 4 2007-03-20 Q7L3T8 SYPM_HUMAN PARS2 Probable proline--tRNA ligase, mitochondrial 475 53.3 1 6.1.1.15 Mitochondrion matrix 0 1 Developmental and epileptic encephalopathy 75 0 1 4 2005-08-30 Q7M4L6 SHF_HUMAN SHF SH2 domain-containing adapter protein F 423 46.8 15 0 0 0 1 4 2008-02-26 Q7RTZ2 U17L1_HUMAN USP17L1 Ubiquitin carboxyl-terminal hydrolase 17-like protein 1 530 59.6 8 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 4 2006-10-17 Q7Z4M0 RE114_HUMAN REC114 Meiotic recombination protein REC114 266 29.2 15 Chromosome 0 1 Oocyte/zygote/embryo maturation arrest 10 0 1 4 2008-02-26 Q7Z553 MDGA2_HUMAN MDGA2 MAM domain-containing glycosylphosphatidylinositol anchor protein 2 956 107.4 14 Cell membrane 0 0 0 1 4 2004-04-13 Q7Z5H5 VN1R4_HUMAN VN1R4 Vomeronasal type-1 receptor 4 301 33.6 19 Cell membrane 7 0 0 2 4 2005-07-05 Q7Z692 CEA19_HUMAN CEACAM19 Cell adhesion molecule CEACAM19 300 32.6 19 Membrane 1 0 0 1 4 2004-07-05 Q7Z7B7 DB132_HUMAN DEFB132 Beta-defensin 132 95 10.6 20 Secreted 0 0 0 1 4 2005-03-15 Q7Z7J5 DPPA2_HUMAN DPPA2 Developmental pluripotency-associated protein 2 298 33.8 3 Nucleus 0 0 0 1 4 2006-05-30 Q86SG7 LYG2_HUMAN LYG2 Lysozyme g-like protein 2 212 23.5 2 3.2.1.- Secreted 0 0 0 1 4 2004-05-10 Q86TD4 SRCA_HUMAN SRL Sarcalumenin 473 54.4 16 Sarcoplasmic reticulum lumen; Sarcoplasmic reticulum membrane 0 0 0 1 4 2006-01-10 Q86TJ5 ZN554_HUMAN ZNF554 Zinc finger protein 554 538 60.6 19 Nucleus 0 0 0 1 4 2007-02-06 Q86U38 NOP9_HUMAN NOP9 Nucleolar protein 9 636 69.4 14 0 0 0 1 4 2003-09-19 Q86UP6 CUZD1_HUMAN CUZD1 CUB and zona pellucida-like domain-containing protein 1 607 68.2 10 Zymogen granule membrane 1 0 0 1 4 2006-05-02 Q86UU1 PHLB1_HUMAN PHLDB1 Pleckstrin homology-like domain family B member 1 1377 151.2 11 0 1 Osteogenesis imperfecta 23 0 1 4 2005-12-20 Q86UW8 HPLN4_HUMAN HAPLN4 Hyaluronan and proteoglycan link protein 4 402 42.8 19 Secreted 0 0 0 1 4 2004-05-24 Q86UY8 NT5D3_HUMAN NT5DC3 5'-nucleotidase domain-containing protein 3 548 63.4 12 3.1.3.- 0 0 0 1 4 2008-03-18 Q86UZ6 ZBT46_HUMAN ZBTB46 Zinc finger and BTB domain-containing protein 46 589 64.1 20 Nucleus; Chromosome 0 0 0 1 4 2004-02-16 Q86VI1 EX3L1_HUMAN EXOC3L1 Exocyst complex component 3-like protein 746 81.7 16 Cytoplasmic vesicle 0 0 0 1 4 2007-11-13 Q86W34 AMZ2_HUMAN AMZ2 Archaemetzincin-2 360 41.3 17 3.4.-.- 0 0 0 1 4 2006-01-10 Q86WC6 PPR27_HUMAN PPP1R27 Protein phosphatase 1 regulatory subunit 27 154 17.4 17 0 0 0 1 4 2006-12-12 Q86WK7 AMGO3_HUMAN AMIGO3 Amphoterin-induced protein 3 504 55.3 3 Membrane 1 0 0 1 4 2005-06-21 Q86WK9 PAQR7_HUMAN PAQR7 Membrane progestin receptor alpha 346 39.7 1 Cell membrane 7 0 0 1 4 2004-08-16 Q86XT9 TM219_HUMAN TMEM219 Insulin-like growth factor-binding protein 3 receptor 240 25.7 16 Cell membrane 1 0 0 1 4 2008-04-08 Q86Y22 CONA1_HUMAN COL23A1 Collagen alpha-1(XXIII) chain 540 51.9 5 Cell membrane 1 0 0 1 4 2006-07-11 Q86Y79 PTH_HUMAN PTRH1 Peptidyl-tRNA hydrolase 214 22.9 9 3.1.1.29 0 0 0 1 4 2006-06-27 Q86YE8 ZN573_HUMAN ZNF573 Zinc finger protein 573 665 78.2 19 Nucleus 0 0 0 1 4 2007-02-06 Q8IWP9 CC28A_HUMAN CCDC28A Coiled-coil domain-containing protein 28A 274 30.4 6 0 0 0 1 4 2005-06-21 Q8IWY8 ZSC29_HUMAN ZSCAN29 Zinc finger and SCAN domain-containing protein 29 852 96.7 15 Nucleus 0 0 0 1 4 2006-05-02 Q8IX29 FBX16_HUMAN FBXO16 F-box only protein 16 292 34.6 8 0 0 0 1 4 2003-05-09 Q8IXS8 HYCC2_HUMAN HYCC2 Hyccin 2 530 58.6 2 Cytoplasm; Cell membrane 0 0 0 1 4 2007-02-20 Q8IZ83 A16A1_HUMAN ALDH16A1 Aldehyde dehydrogenase family 16 member A1 802 85.1 19 0 0 0 1 4 2008-01-15 Q8IZM9 S38A6_HUMAN SLC38A6 Solute carrier family 38 member 6 456 50.9 14 Cell membrane; Synapse 11 0 0 1 4 2007-11-13 Q8N0T1 RBIS_HUMAN RBIS Ribosomal biogenesis factor 100 11.5 8 Nucleus 0 0 0 1 4 2008-03-18 Q8N109 KI2LA_HUMAN KIR2DL5A Killer cell immunoglobulin-like receptor 2DL5A 375 40.7 Cell membrane 1 0 0 1 4 2007-09-11 Q8N112 LSME2_HUMAN LSMEM2 Leucine-rich single-pass membrane protein 2 164 17.9 3 Membrane 1 0 0 1 4 2006-06-27 Q8N1A0 KT222_HUMAN KRT222 Keratin-like protein KRT222 295 34.2 17 0 0 0 1 4 2008-07-22 Q8N3X6 LCORL_HUMAN LCORL Ligand-dependent nuclear receptor corepressor-like protein 602 67 4 Nucleus 0 0 0 1 4 2007-11-13 Q8N5I9 NOPC1_HUMAN NOPCHAP1 NOP protein chaperone 1 185 20.1 12 Nucleus 0 0 0 1 4 2006-12-12 Q8N5S1 S2541_HUMAN SLC25A41 Mitochondrial carrier protein SCaMC-3L 370 40.8 19 Mitochondrion inner membrane 6 0 0 1 4 2008-02-26 Q8N690 DB119_HUMAN DEFB119 Beta-defensin 119 84 9.8 20 Secreted 0 0 0 1 4 2002-12-06 Q8N6D5 ANR29_HUMAN ANKRD29 Ankyrin repeat domain-containing protein 29 301 32.4 18 0 0 0 1 4 2006-06-27 Q8N7K0 ZN433_HUMAN ZNF433 Zinc finger protein 433 673 77.2 19 Nucleus 0 0 0 1 4 2003-04-23 Q8N883 ZN614_HUMAN ZNF614 Zinc finger protein 614 585 67.2 19 Nucleus 0 0 0 1 4 2006-05-16 Q8N8A2 ANR44_HUMAN ANKRD44 Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B 993 107.6 2 0 0 0 1 4 2006-06-27 Q8N8A6 DDX51_HUMAN DDX51 ATP-dependent RNA helicase DDX51 666 72.5 12 3.6.4.13 Nucleus 0 0 0 1 4 2006-03-21 Q8N9S9 SNX31_HUMAN SNX31 Sorting nexin-31 440 50.8 8 0 0 0 1 4 2008-04-29 Q8NAA4 A16L2_HUMAN ATG16L2 Protein Atg16l2 619 69 11 Cytoplasm 0 0 0 1 4 2008-05-20 Q8NBV4 PLPP7_HUMAN PLPP7 Inactive phospholipid phosphatase 7 271 29.4 9 Nucleus envelope; Endoplasmic reticulum membrane; Membrane 4 0 0 1 4 2006-06-13 Q8NCA9 ZN784_HUMAN ZNF784 Zinc finger protein 784 323 34.2 19 Nucleus 0 0 0 1 4 2007-01-09 Q8NCQ7 PRCA1_HUMAN PROCA1 Protein PROCA1 364 40.5 17 0 0 0 1 4 2008-05-20 Q8NDA2 HMCN2_HUMAN HMCN2 Hemicentin-2 5079 544 9 Secreted; Cleavage furrow 0 0 0 1 4 2010-06-15 Q8NDH2 LRTM3_HUMAN LRTM3 Leucine-rich repeat transmembrane protein 3 7081 801.9 13 Membrane 1 0 0 1 4 2008-07-01 Q8NEF3 CC112_HUMAN CCDC112 Coiled-coil domain-containing protein 112 446 53.6 5 Cytoplasm 0 0 0 1 4 2008-02-26 Q8NEM2 SHCBP_HUMAN SHCBP1 SHC SH2 domain-binding protein 1 672 75.7 16 Midbody; Cytoplasm 0 0 0 1 4 2005-12-20 Q8NEP9 ZN555_HUMAN ZNF555 Zinc finger protein 555 628 73.1 19 Nucleus 0 0 0 1 4 2006-05-16 Q8NET1 D108B_HUMAN DEFB108B Beta-defensin 108B 73 8.3 11 Secreted 0 0 0 1 4 2002-12-06 Q8NEX9 DR9C7_HUMAN SDR9C7 Short-chain dehydrogenase/reductase family 9C member 7 313 35.3 12 1.1.1.- Cytoplasm 0 1 Ichthyosis, congenital, autosomal recessive 13 0 1 4 2008-02-05 Q8NH59 O51Q1_HUMAN OR51Q1 Olfactory receptor 51Q1 317 35.7 11 Cell membrane 7 0 0 2 4 2003-10-31 Q8NH87 OR9G1_HUMAN OR9G1 Olfactory receptor 9G1 305 34.1 11 Cell membrane 7 0 0 3 4 2003-10-10 Q8NH92 OR1S1_HUMAN OR1S1 Olfactory receptor 1S1 325 36.7 11 Cell membrane 7 0 0 3 4 2003-09-26 Q8NHC8 OR2T6_HUMAN OR2T6 Olfactory receptor 2T6 308 34.8 1 Cell membrane 7 0 0 3 4 2005-12-20 Q8NHM4 TRY6_HUMAN PRSS3P2 Putative trypsin-6 247 26.5 3.4.21.4 Secreted 0 0 0 5 4 2008-05-20 Q8NHP7 EXD1_HUMAN EXD1 piRNA biogenesis protein EXD1 514 58.3 15 Cytoplasm 0 0 0 1 4 2008-05-20 Q8TAQ5 ZN420_HUMAN ZNF420 Zinc finger protein 420 688 80.2 19 Nucleus 0 0 0 1 4 2005-07-19 Q8TAV4 STML3_HUMAN STOML3 Stomatin-like protein 3 291 32.1 13 Cell membrane 1 0 0 1 4 2005-02-01 Q8TB96 TIP_HUMAN ITFG1 T-cell immunomodulatory protein 612 68.1 16 Secreted; Membrane 1 0 0 1 4 2004-03-15 Q8TBF8 FA81A_HUMAN FAM81A Protein FAM81A 368 42.4 15 Postsynaptic density; Cytoplasm 0 0 0 1 4 2006-12-12 Q8TBP6 S2540_HUMAN SLC25A40 Mitochondrial glutathione transporter SLC25A40 338 38.1 7 Mitochondrion inner membrane 6 0 0 1 4 2007-06-26 Q8TCB6 O51E1_HUMAN OR51E1 Olfactory receptor 51E1 318 35.4 11 Cell membrane 7 0 0 1 4 2003-10-10 Q8TCW9 PKR1_HUMAN PROKR1 Prokineticin receptor 1 393 44.8 2 Cell membrane 7 0 0 1 4 2003-07-19 Q8TDY8 IGDC4_HUMAN IGDCC4 Immunoglobulin superfamily DCC subclass member 4 1250 134.2 15 Cell membrane 1 0 0 1 4 2007-09-11 Q8WUZ0 BCL7C_HUMAN BCL7C B-cell CLL/lymphoma 7 protein family member C 217 23.5 16 0 0 0 1 4 2006-06-13 Q8WV07 LTO1_HUMAN LTO1 Protein LTO1 homolog 137 15.4 11 Nucleus 0 0 0 1 4 2005-02-01 Q8WVH0 CPLX3_HUMAN CPLX3 Complexin-3 158 17.6 15 Synapse; Cell membrane 0 0 0 1 4 2006-05-30 Q8WWG1 NRG4_HUMAN NRG4 Pro-neuregulin-4, membrane-bound isoform 115 12.7 15 Cell membrane 1 0 0 1 4 2003-02-01 Q8WZ94 OR5P3_HUMAN OR5P3 Olfactory receptor 5P3 311 34.3 11 Cell membrane 7 0 0 2 4 2002-05-10 Q902F8 ENK8_HUMAN ERVK-8 Endogenous retrovirus group K member 8 Env polyprotein 699 79.2 Cell membrane 1 0 0 1 4 2004-05-24 Q92617 NPIB3_HUMAN NPIPB3 Nuclear pore complex-interacting protein family member B3 1050 116.8 16 Membrane 1 0 0 1 4 2001-02-21 Q93073 SBP2L_HUMAN SECISBP2L Selenocysteine insertion sequence-binding protein 2-like 1101 121.8 15 0 0 0 1 4 1997-11-01 Q96BN6 F149B_HUMAN FAM149B1 Primary cilium assembly protein FAM149B1 582 64.6 10 Cell projection 0 1 Joubert syndrome 36 0 1 4 2008-02-26 Q96CX6 LRC58_HUMAN LRRC58 Leucine-rich repeat-containing protein 58 371 40.6 3 0 0 0 1 4 2007-12-04 Q96DY7 MTBP_HUMAN MTBP Mdm2-binding protein 904 102.2 8 0 0 0 1 4 2008-03-18 Q96ER3 SAAL1_HUMAN SAAL1 Protein SAAL1 474 53.6 11 Nucleus 0 0 0 1 4 2007-03-06 Q96GE9 DMAC1_HUMAN DMAC1 Distal membrane-arm assembly complex protein 1 116 12.3 9 Mitochondrion inner membrane 2 0 0 1 4 2005-07-05 Q96I13 ABHD8_HUMAN ABHD8 Protein ABHD8 439 47.3 19 3.-.-.- Cytoplasm 0 0 0 1 4 2007-03-20 Q96I27 ZN625_HUMAN ZNF625 Zinc finger protein 625 306 34.7 19 Nucleus 0 0 0 1 4 2006-05-16 Q96IX9 A26L1_HUMAN ANKRD36BP1 Putative ankyrin repeat domain-containing protein 26-like 1 119 14.2 0 0 0 5 4 2008-02-26 Q96JT2 S45A3_HUMAN SLC45A3 Solute carrier family 45 member 3 553 59.3 1 Membrane 11 0 0 1 4 2004-04-13 Q96KR4 LMLN_HUMAN LMLN Leishmanolysin-like peptidase 647 72.7 3 3.4.24.- Cytoplasm; Lipid droplet 0 0 0 1 4 2007-09-11 Q96L14 C170L_HUMAN CEP170P1 Cep170-like protein 293 32.6 0 0 0 5 4 2008-07-01 Q96MA1 DMRTB_HUMAN DMRTB1 Doublesex- and mab-3-related transcription factor B1 342 36.2 1 Nucleus 0 0 0 1 4 2008-01-15 Q96MM6 HS12B_HUMAN HSPA12B Heat shock 70 kDa protein 12B 686 75.7 20 0 0 0 1 4 2003-01-10 Q96MU6 ZN778_HUMAN ZNF778 Zinc finger protein 778 729 82 16 Nucleus 0 0 0 1 4 2006-12-12 Q96N03 VTM2L_HUMAN VSTM2L V-set and transmembrane domain-containing protein 2-like protein 204 22.3 20 0 0 0 1 4 2002-12-13 Q96NJ5 KLH32_HUMAN KLHL32 Kelch-like protein 32 620 70.4 6 0 0 0 1 4 2004-01-16 Q96NL0 RUN3B_HUMAN RUNDC3B RUN domain-containing protein 3B 473 52.8 7 0 0 0 1 4 2008-05-20 Q96PE6 ZIM3_HUMAN ZIM3 Zinc finger imprinted 3 472 54.5 19 Nucleus 0 0 0 1 4 2002-03-27 Q96PL2 TECTB_HUMAN TECTB Beta-tectorin 329 37 10 Cell membrane; Secreted 0 0 0 1 4 2004-06-07 Q96PU9 CMA1A_HUMAN CIMAP1A Ciliary microtubule associated protein 1A 254 27.7 11 Cytoplasm 0 0 0 1 4 2007-09-11 Q96Q07 BTBD9_HUMAN BTBD9 BTB/POZ domain-containing protein 9 612 69.2 6 0 1 Restless legs syndrome 6 0 1 4 2003-08-29 Q96R48 OR2A5_HUMAN OR2A5 Olfactory receptor 2A5 311 35.2 7 Cell membrane 7 0 0 2 4 2003-10-10 Q96RV3 PCX1_HUMAN PCNX1 Pecanex-like protein 1 2341 258.7 14 Membrane 10 0 0 1 4 2003-10-03 Q99666 RGPD5_HUMAN RGPD5 RANBP2-like and GRIP domain-containing protein 5/6 1765 198.9 2 Cytoplasm 0 0 0 1 4 2005-12-06 Q9BQY9 DBND2_HUMAN DBNDD2 Dysbindin domain-containing protein 2 259 27.7 20 0 0 0 1 4 2003-07-11 Q9BRQ4 CF300_HUMAN CFAP300 Cilia- and flagella-associated protein 300 267 30.9 11 Cytoplasm 0 1 Ciliary dyskinesia, primary, 38 0 1 4 2007-02-06 Q9BS31 ZN649_HUMAN ZNF649 Zinc finger protein 649 505 57.7 19 Nucleus 0 0 0 1 4 2006-10-03 Q9BSG5 RTBDN_HUMAN RTBDN Retbindin 229 24.6 19 Secreted; Cell membrane 0 0 0 1 4 2005-12-06 Q9BTE0 NAT9_HUMAN NAT9 Alpha/beta-tubulin-N-acetyltransferase 9 207 23.4 17 2.3.1.308 0 0 0 1 4 2007-05-15 Q9BTV6 DPH7_HUMAN DPH7 Diphthine methyltransferase 452 50.6 9 3.1.1.97 0 0 0 1 4 2005-07-05 Q9BU70 TRMO_HUMAN TRMO tRNA (adenine(37)-N6)-methyltransferase 441 48.6 9 2.1.1.- 0 0 0 1 4 2007-05-29 Q9BX26 SYCP2_HUMAN SYCP2 Synaptonemal complex protein 2 1530 175.6 20 Nucleus; Chromosome 0 1 Spermatogenic failure 1 0 1 4 2002-10-10 Q9BYC2 SCOT2_HUMAN OXCT2 Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial 517 56.1 1 2.8.3.5 Mitochondrion 0 0 0 1 4 2004-06-07 Q9BZ76 CNTP3_HUMAN CNTNAP3 Contactin-associated protein-like 3 1288 140.7 9 Cell membrane 1 0 0 1 4 2001-12-05 Q9BZD7 TMG3_HUMAN PRRG3 Transmembrane gamma-carboxyglutamic acid protein 3 231 25.9 X Membrane 1 0 0 1 4 2002-01-31 Q9C002 CX4L3_HUMAN COXFA4L3 Cytochrome c oxidase associated subunit FA4L3 83 9.6 15 Mitochondrion inner membrane 1 0 0 1 4 2002-09-19 Q9C075 K1C23_HUMAN KRT23 Keratin, type I cytoskeletal 23 422 48.1 17 0 0 0 1 4 2001-08-29 Q9GZP1 NRSN2_HUMAN NRSN2 Neurensin-2 204 22 20 Membrane 2 0 0 1 4 2002-11-08 Q9H009 NACA2_HUMAN NACA2 Nascent polypeptide-associated complex subunit alpha-2 215 23.2 17 Cytoplasm; Nucleus 0 0 0 1 4 2007-03-20 Q9H0I9 TKTL2_HUMAN TKTL2 Transketolase-like protein 2 626 67.9 4 2.2.1.1 0 0 0 1 4 2007-05-01 Q9H158 PCDC1_HUMAN PCDHAC1 Protocadherin alpha-C1 963 103.9 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9H1E5 TMX4_HUMAN TMX4 Thioredoxin-related transmembrane protein 4 349 39 20 Nucleus inner membrane; Endoplasmic reticulum membrane 1 0 0 1 4 2003-04-23 Q9H1Z8 AUGN_HUMAN ECRG4 Augurin 148 17.2 2 Secreted; Cytoplasm; Apical cell membrane 0 0 0 1 4 2006-10-03 Q9H205 O2AG1_HUMAN OR2AG1 Olfactory receptor 2AG1 316 35.3 11 Cell membrane 7 0 0 1 4 2001-06-20 Q9H210 OR2D2_HUMAN OR2D2 Olfactory receptor 2D2 308 34.2 11 Cell membrane 7 0 0 2 4 2001-06-20 Q9H2X8 I27L2_HUMAN IFI27L2 Interferon alpha-inducible protein 27-like protein 2 130 12.4 14 Mitochondrion membrane 3 0 0 1 4 2003-01-17 Q9H330 TM245_HUMAN TMEM245 Transmembrane protein 245 879 97.4 9 Membrane 14 0 0 1 4 2005-07-19 Q9H3Z7 ABHGB_HUMAN ABHD16B ABHD16B 469 52.6 20 3.1.1.111 0 0 0 1 4 2002-10-10 Q9H6F2 TM38A_HUMAN TMEM38A Trimeric intracellular cation channel type A 299 33.3 19 Sarcoplasmic reticulum membrane; Nucleus membrane 7 0 0 1 4 2007-01-09 Q9H6X5 CS044_HUMAN C19orf44 Uncharacterized protein C19orf44 657 71.3 19 0 0 0 1 4 2007-06-26 Q9H7X7 IFT22_HUMAN IFT22 Intraflagellar transport protein 22 homolog 185 20.8 7 Cell projection 0 0 0 1 4 2006-10-17 Q9H9J4 UBP42_HUMAN USP42 Ubiquitin carboxyl-terminal hydrolase 42 1324 145.4 7 3.4.19.12 0 0 0 1 4 2003-10-10 Q9HAT1 LMA1L_HUMAN LMAN1L Protein ERGIC-53-like 526 57.1 15 Endoplasmic reticulum-Golgi intermediate compartment membrane 1 0 0 2 4 2002-05-27 Q9HAY2 MAGF1_HUMAN MAGEF1 Melanoma-associated antigen F1 307 35.2 3 0 0 0 1 4 2001-11-02 Q9HBJ7 UBP29_HUMAN USP29 Ubiquitin carboxyl-terminal hydrolase 29 922 104.2 19 3.4.19.12 Cytoplasm 0 0 0 1 4 2002-09-19 Q9HBV1 POPD3_HUMAN POPDC3 Popeye domain-containing protein 3 291 33.9 6 Membrane 3 1 Muscular dystrophy, limb-girdle, autosomal recessive 26 0 1 4 2003-10-31 Q9HD64 XAGE1_HUMAN XAGE1A X antigen family member 1 81 9.1 X 0 0 0 1 4 2001-09-26 Q9NPH6 OBP2B_HUMAN OBP2B Odorant-binding protein 2b 170 19.5 9 Secreted 0 0 0 1 4 2002-04-03 Q9NQE7 TSSP_HUMAN PRSS16 Thymus-specific serine protease 514 55 6 3.4.-.- Cytoplasmic vesicle 0 0 0 1 4 2001-04-27 Q9NR64 KLHL1_HUMAN KLHL1 Kelch-like protein 1 748 82.7 13 Cytoplasm 0 0 0 1 4 2001-04-27 Q9NRN5 OLFL3_HUMAN OLFML3 Olfactomedin-like protein 3 406 46 1 Secreted 0 0 0 1 4 2003-10-24 Q9NRU3 CNNM1_HUMAN CNNM1 Metal transporter CNNM1 951 104.4 10 Cell membrane 4 0 0 1 4 2007-07-24 Q9NRV9 HEBP1_HUMAN HEBP1 Heme-binding protein 1 189 21.1 12 Cytoplasm 0 0 0 1 4 2006-01-24 Q9NS66 GP173_HUMAN GPR173 Probable G protein-coupled receptor 173 373 41.5 X Cell membrane 7 0 0 1 4 2001-08-14 Q9NTU4 CTSRZ_HUMAN CATSPERZ Cation channel sperm-associated auxiliary subunit zeta 200 22.8 11 Cell projection 0 0 0 1 4 2008-09-02 Q9NUG6 PDRG1_HUMAN PDRG1 p53 and DNA damage-regulated protein 1 133 15.5 20 Cytoplasm 0 0 0 1 4 2002-10-19 Q9NVZ3 NECP2_HUMAN NECAP2 Adaptin ear-binding coat-associated protein 2 263 28.3 1 Cytoplasmic vesicle; Cell membrane 0 0 0 1 4 2005-03-29 Q9NWW0 HPIP_HUMAN HCFC1R1 Host cell factor C1 regulator 1 138 15.3 16 Cytoplasm; Nucleus 0 0 0 1 4 2008-06-10 Q9NYW1 TA2R9_HUMAN TAS2R9 Taste receptor type 2 member 9 312 35.6 12 Membrane 7 0 0 1 4 2003-04-11 Q9NYW3 TA2R7_HUMAN TAS2R7 Taste receptor type 2 member 7 318 36.6 12 Membrane 7 0 0 1 4 2003-04-11 Q9P203 BTBD7_HUMAN BTBD7 BTB/POZ domain-containing protein 7 1132 126.4 14 Nucleus 0 0 0 1 4 2005-06-07 Q9P227 RHG23_HUMAN ARHGAP23 Rho GTPase-activating protein 23 1491 162.2 17 0 0 0 1 4 2007-03-20 Q9P260 RELCH_HUMAN RELCH RAB11-binding protein RELCH 1216 134.6 18 Recycling endosome; Golgi apparatus 0 0 0 1 4 2008-01-15 Q9P265 DIP2B_HUMAN DIP2B Disco-interacting protein 2 homolog B 1576 171.5 12 Cell projection; Perikaryon 0 0 0 1 4 2008-02-26 Q9P291 ARMX1_HUMAN ARMCX1 Armadillo repeat-containing X-linked protein 1 453 49.2 X Mitochondrion; Mitochondrion outer membrane 1 0 0 1 4 2005-12-20 Q9P2P1 NYNRI_HUMAN NYNRIN Protein NYNRIN 1898 208.4 14 Membrane 2 0 0 1 4 2008-01-15 Q9QC07 POK18_HUMAN ERVK-18 Endogenous retrovirus group K member 18 Pol protein 812 91.9 0 0 0 3 4 2004-09-13 Q9UH90 FBX40_HUMAN FBXO40 F-box only protein 40 709 79.8 3 Cytoplasm 0 0 0 1 4 2004-08-31 Q9UJ99 CAD22_HUMAN CDH22 Cadherin-22 828 89.1 20 Cell membrane 1 0 0 1 4 2002-10-19 Q9UK13 ZN221_HUMAN ZNF221 Zinc finger protein 221 617 71.2 19 Nucleus 0 0 0 1 4 2000-12-01 Q9UKJ3 GPTC8_HUMAN GPATCH8 G patch domain-containing protein 8 1502 164.2 17 0 0 0 1 4 2000-12-01 Q9UKR3 KLK13_HUMAN KLK13 Kallikrein-13 277 30.6 19 3.4.21.- Secreted 0 0 0 1 4 2000-12-01 Q9UKY3 CES1P_HUMAN CES1P1 Putative inactive carboxylesterase 4 287 30.7 Secreted 0 0 0 5 4 2007-10-23 Q9ULZ0 T53G3_HUMAN TP53TG3 TP53-target gene 3 protein 124 12.8 16 Cytoplasm; Nucleus 0 0 0 2 4 2008-04-08 Q9UN30 SCML1_HUMAN SCML1 Sex comb on midleg-like protein 1 329 37.4 X Nucleus 0 0 0 1 4 2004-05-10 Q9UN75 PCDAC_HUMAN PCDHA12 Protocadherin alpha-12 941 101.7 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y2T4 2ABG_HUMAN PPP2R2C Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B gamma isoform 447 51.5 4 0 0 0 1 4 2000-05-30 Q9Y330 ZBT12_HUMAN ZBTB12 Zinc finger and BTB domain-containing protein 12 459 49.1 6 Nucleus 0 0 0 1 4 2003-11-07 Q9Y4F5 C170B_HUMAN CEP170B Centrosomal protein of 170 kDa protein B 1589 171.7 14 Cytoplasm 0 0 0 1 4 2007-04-03 Q9Y5E5 PCDB4_HUMAN PCDHB4 Protocadherin beta-4 795 87.3 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5F9 PCDGI_HUMAN PCDHGB6 Protocadherin gamma-B6 930 101 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5G2 PCDGE_HUMAN PCDHGB2 Protocadherin gamma-B2 931 100.9 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5G3 PCDGD_HUMAN PCDHGB1 Protocadherin gamma-B1 927 100.4 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5G6 PCDG7_HUMAN PCDHGA7 Protocadherin gamma-A7 932 101.7 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5H1 PCDG2_HUMAN PCDHGA2 Protocadherin gamma-A2 932 101.5 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5H3 PCDGA_HUMAN PCDHGA10 Protocadherin gamma-A10 936 101.4 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5I0 PCDAD_HUMAN PCDHA13 Protocadherin alpha-13 950 102.5 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5I1 PCDAB_HUMAN PCDHA11 Protocadherin alpha-11 949 103.3 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5I4 PCDC2_HUMAN PCDHAC2 Protocadherin alpha-C2 1007 109.5 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y661 HS3S4_HUMAN HS3ST4 Heparan sulfate glucosamine 3-O-sulfotransferase 4 456 49.8 16 2.8.2.- Golgi apparatus membrane 1 0 0 1 4 2005-03-15 W6CW81 PYDC5_HUMAN PYDC5 Pyrin domain-containing protein 5 113 12.7 1 0 0 0 1 4 2018-11-07 A0A024RBG1 NUD4B_HUMAN NUDT4B Diphosphoinositol polyphosphate phosphohydrolase NUDT4B 181 20.4 1 3.6.1.52 Cytoplasm 0 0 0 1 4 2018-07-18 A0A7P0TBJ1 HAPR2_HUMAN HAPSTR2 HUWE1-associated protein modifying stress responses 2 273 30.1 X Nucleus 0 0 0 1 4 2023-05-03 A1A5D9 BICL2_HUMAN BICDL2 BICD family-like cargo adapter 2 508 56.8 16 0 0 0 1 4 2007-09-11 A4D0T7 SIM30_HUMAN SMIM30 Small integral membrane protein 30 59 6.1 7 Endoplasmic reticulum membrane; Mitochondrion membrane 1 0 0 1 4 2008-09-02 A4D2G3 O2A25_HUMAN OR2A25 Olfactory receptor 2A25 310 34.6 7 Cell membrane 7 0 0 2 4 2007-07-10 A4FU01 MTMRB_HUMAN MTMR11 Myotubularin-related protein 11 709 79.5 1 0 0 0 1 4 2008-05-20 A6ND48 O14I1_HUMAN OR14I1 Olfactory receptor 14I1 311 35.2 1 Cell membrane 7 0 0 1 4 2007-11-13 A6NFN3 RFOX3_HUMAN RBFOX3 RNA binding protein fox-1 homolog 3 312 33.9 17 Nucleus; Cytoplasm 0 0 0 1 4 2008-09-02 A6NGC4 TLCD2_HUMAN TLCD2 TLC domain-containing protein 2 264 28.7 17 Cell membrane 6 0 0 1 4 2008-04-08 A6NGY5 O51F1_HUMAN OR51F1 Olfactory receptor 51F1 319 35.8 11 Cell membrane 7 0 0 3 4 2007-12-04 A6NKF1 SAC31_HUMAN SAC3D1 SAC3 domain-containing protein 1 404 43.6 Cytoplasm 0 0 0 1 4 2007-10-23 A6NLJ0 C2C4B_HUMAN C2CD4B C2 calcium-dependent domain-containing protein 4B 364 38.8 15 Nucleus 0 0 0 1 4 2008-03-18 A8MU46 SMTL1_HUMAN SMTNL1 Smoothelin-like protein 1 494 53 11 Cytoplasm; Nucleus 0 0 0 1 4 2008-02-26 A8MUK1 U17L5_HUMAN USP17L5 Ubiquitin carboxyl-terminal hydrolase 17-like protein 5 530 59.7 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 4 2008-04-29 A8MV81 HIG1C_HUMAN HIGD1C HIG1 domain family member 1C 97 11.1 12 Membrane 2 0 0 1 4 2008-07-01 A8MXK1 VSTM5_HUMAN VSTM5 V-set and transmembrane domain-containing protein 5 200 22.4 11 Cell membrane; Cell projection 1 0 0 1 4 2008-06-10 A8MYP8 CMA1B_HUMAN CIMAP1B Ciliary microtubule associated protein 1B 253 27.3 22 Cell projection 0 0 0 1 4 2008-09-02 B2RPK0 HGB1A_HUMAN HMGB1P1 High mobility group protein B1-like 1 211 24.2 20 Nucleus; Chromosome 0 0 0 1 4 2008-09-02 B3EWF7 EP2A2_HUMAN EPM2A Laforin, isoform 9 344 35.2 Nucleus 0 0 0 1 4 2012-03-21 B4DJY2 TM233_HUMAN TMEM233 Transmembrane protein 233 109 12.1 12 Cell membrane 1 0 0 1 4 2010-06-15 C0HLU2 SEHBP_HUMAN ZNF689 Transcriptional regulator SEHBP 46 5 16 Nucleus; Cytoplasm 0 0 0 1 4 2021-09-29 C0HLV8 MP31_HUMAN MLDHR PTEN upstream open reading frame MP31 31 3.3 10 Mitochondrion 0 0 0 1 4 2021-06-02 C0HM98 DDUP_HUMAN CTBP1-DT DNA damage up-regulated protein 186 19.7 Nucleus; Chromosome 0 0 0 1 4 2024-01-24 E9PAV3 NACAM_HUMAN NACA Nascent polypeptide-associated complex subunit alpha, muscle-specific form 2078 205.4 12 Cytoplasm; Nucleus 0 0 0 1 4 2014-02-19 O00587 MFNG_HUMAN MFNG Beta-1,3-N-acetylglucosaminyltransferase manic fringe 321 36.2 22 2.4.1.222 Golgi apparatus membrane 1 0 0 1 4 2002-03-27 O43638 FOXS1_HUMAN FOXS1 Forkhead box protein S1 330 35.4 20 Nucleus 0 0 0 1 4 1998-12-15 O60422 ONEC3_HUMAN ONECUT3 One cut domain family member 3 494 50 19 Nucleus 0 0 0 1 4 2007-01-09 O75064 DEN4B_HUMAN DENND4B DENN domain-containing protein 4B 1496 163.8 1 Golgi apparatus 0 0 0 1 4 2007-09-11 O75343 GCYB2_HUMAN GUCY1B2 Putative guanylate cyclase soluble subunit beta-2 617 70.4 4.6.1.2 Cell projection; Cytoplasm 0 0 0 5 4 1999-07-15 O75346 ZN253_HUMAN ZNF253 Zinc finger protein 253 499 57.6 19 Nucleus 0 0 0 1 4 2001-01-24 O75388 GPR32_HUMAN GPR32 Probable G protein-coupled receptor 32 356 40.1 19 Cell membrane 7 0 0 1 4 2000-05-30 O75459 PAGE1_HUMAN PAGE1 P antigen family member 1 146 16.2 X 0 0 0 1 4 2000-05-30 O75820 ZN189_HUMAN ZNF189 Zinc finger protein 189 626 73 9 Nucleus 0 0 0 1 4 1998-12-15 O75954 TSN9_HUMAN TSPAN9 Tetraspanin-9 239 26.8 12 Membrane 4 0 0 1 4 2000-12-01 O95025 SEM3D_HUMAN SEMA3D Semaphorin-3D 777 89.7 7 Secreted 0 0 0 1 4 2000-05-30 O95076 ALX3_HUMAN ALX3 Homeobox protein aristaless-like 3 343 36.9 1 Nucleus 0 1 Frontonasal dysplasia 1 0 1 4 2001-04-27 O95081 AGFG2_HUMAN AGFG2 Arf-GAP domain and FG repeat-containing protein 2 481 49 7 0 0 0 1 4 2004-06-21 O95665 NTR2_HUMAN NTSR2 Neurotensin receptor type 2 410 45.4 2 Cell membrane 7 0 0 1 4 2000-12-01 O95685 PPR3D_HUMAN PPP1R3D Protein phosphatase 1 regulatory subunit 3D 299 32.6 20 0 0 0 1 4 2002-09-19 O95759 TBCD8_HUMAN TBC1D8 TBC1 domain family member 8 1140 130.8 2 0 0 0 1 4 2003-10-03 O95841 ANGL1_HUMAN ANGPTL1 Angiopoietin-related protein 1 491 56.7 1 Secreted 0 0 0 1 4 2005-05-10 O95918 OR2H2_HUMAN OR2H2 Olfactory receptor 2H2 312 34.8 6 Cell membrane 7 0 0 2 4 2001-06-20 P01614 KVD40_HUMAN IGKV2D-40 Immunoglobulin kappa variable 2D-40 121 13.3 2 Secreted; Cell membrane 0 0 0 1 4 1986-07-21 P01733 TVBL3_HUMAN TRBV12-3 T cell receptor beta variable 12-3 115 13 7 Cell membrane 0 0 0 1 4 1986-07-21 P04432 KVD39_HUMAN IGKV1D-39 Immunoglobulin kappa variable 1D-39 117 12.7 2 Secreted; Cell membrane 0 0 0 3 4 1987-08-13 P05013 IFNA6_HUMAN IFNA6 Interferon alpha-6 189 22.1 9 Secreted 0 0 0 1 4 1987-08-13 P06310 KV230_HUMAN IGKV2-30 Immunoglobulin kappa variable 2-30 120 13.2 2 Secreted; Cell membrane 0 0 0 1 4 1988-01-01 P0C7Q5 S35G4_HUMAN SLC35G4 Solute carrier family 35 member G4 338 35.4 18 Membrane 7 0 0 1 4 2008-07-01 P0C7U3 ZH11B_HUMAN ZDHHC11B Probable palmitoyltransferase ZDHHC11B 371 41.9 5 2.3.1.225 Membrane 5 0 0 3 4 2008-07-22 P0CG21 NHLC4_HUMAN NHLRC4 NHL-repeat-containing protein 4 123 12.6 16 0 0 0 1 4 2010-06-15 P0CW23 AKAI1_HUMAN AKAIN1 A-kinase anchor protein inhibitor 1 69 7.8 18 0 0 0 1 4 2011-06-28 P0DN87 CGB7_HUMAN CGB7 Choriogonadotropin subunit beta 7 165 17.8 19 Secreted 0 0 0 2 4 2016-05-11 P0DPI2 GAL3A_HUMAN GATD3 Glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial 268 28.2 21 Mitochondrion matrix 0 0 0 1 4 2018-07-18 P10915 HPLN1_HUMAN HAPLN1 Hyaluronan and proteoglycan link protein 1 354 40.2 5 Secreted 0 0 0 1 4 1989-07-01 P17035 ZNF28_HUMAN ZNF28 Zinc finger protein 28 718 83.7 19 Nucleus 0 0 0 1 4 1990-08-01 P17481 HXB8_HUMAN HOXB8 Homeobox protein Hox-B8 243 27.6 17 Nucleus 0 0 0 1 4 1990-08-01 P17538 CTRB1_HUMAN CTRB1 Chymotrypsinogen B 263 27.7 16 3.4.21.1 Secreted 0 0 0 1 4 1990-08-01 P34820 BMP8B_HUMAN BMP8B Bone morphogenetic protein 8B 402 44.8 1 Secreted 0 0 0 1 4 1994-02-01 P47890 OR1G1_HUMAN OR1G1 Olfactory receptor 1G1 313 34.9 17 Cell membrane 7 0 0 2 4 1996-02-01 P49441 INPP_HUMAN INPP1 Inositol polyphosphate 1-phosphatase 399 44 2 3.1.3.57 0 0 0 1 4 1996-02-01 P51504 ZNF80_HUMAN ZNF80 Zinc finger protein 80 273 31.2 3 Nucleus 0 0 0 1 4 1996-10-01 P52737 ZN136_HUMAN ZNF136 Zinc finger protein 136 540 62.8 19 Nucleus 0 0 0 1 4 1996-10-01 P52746 ZN142_HUMAN ZNF142 Zinc finger protein 142 1687 187.9 2 Nucleus 0 1 Neurodevelopmental disorder with impaired speech and hyperkinetic movements 0 1 4 1996-10-01 P57773 CXA9_HUMAN GJA9 Gap junction alpha-9 protein 515 58.8 1 Cell membrane; Cell junction 4 0 0 2 4 2001-02-21 P58166 INHBE_HUMAN INHBE Inhibin beta E chain 350 38.6 12 Secreted 0 0 0 1 4 2001-06-01 P58872 RHBL3_HUMAN RHBDL3 Rhomboid-related protein 3 404 45.2 17 3.4.21.105 Membrane 7 0 0 1 4 2002-06-20 P59074 CHM4P_HUMAN CHMP4BP1 Putative charged multivesicular body protein 4B-like protein CHMP4BP1 171 19.1 14 0 0 0 5 4 2002-11-01 P59282 TPPP2_HUMAN TPPP2 Tubulin polymerization-promoting protein family member 2 170 18.5 14 Cytoplasm; Cell projection 0 0 0 1 4 2003-02-12 P59538 T2R31_HUMAN TAS2R31 Taste receptor type 2 member 31 309 35.3 12 Membrane 7 0 0 2 4 2003-04-11 P59796 GPX6_HUMAN GPX6 Glutathione peroxidase 6 221 25 6 1.11.1.9 Secreted 0 0 0 2 4 2003-08-04 P60331 KR101_HUMAN KRTAP10-1 Keratin-associated protein 10-1 282 28.7 21 0 0 0 2 4 2004-02-02 P60827 C1QT8_HUMAN C1QTNF8 Complement C1q tumor necrosis factor-related protein 8 252 27.7 16 Secreted 0 0 0 1 4 2004-04-13 P61366 OSTN_HUMAN OSTN Osteocrin 133 14.7 3 Secreted 0 0 0 1 4 2004-05-10 P63136 POK25_HUMAN ERVK-25 Endogenous retrovirus group K member 25 Pol protein 954 107.5 0 0 0 3 4 2004-09-13 P69208 MORN_HUMAN Morphogenetic neuropeptide 11 1.1 0 0 0 1 4 1986-07-21 P98169 ZXDB_HUMAN ZXDB Zinc finger X-linked protein ZXDB 803 84.8 X Nucleus 0 0 0 1 4 1996-10-01 Q02338 BDH_HUMAN BDH1 D-beta-hydroxybutyrate dehydrogenase, mitochondrial 343 38.2 3 1.1.1.30 Mitochondrion inner membrane; Mitochondrion matrix 0 0 0 1 4 1993-07-01 Q02386 ZNF45_HUMAN ZNF45 Zinc finger protein 45 682 78.2 19 Nucleus 0 0 0 1 4 1993-10-01 Q03701 CEBPZ_HUMAN CEBPZ CCAAT/enhancer-binding protein zeta 1054 121 2 Nucleus 0 0 0 1 4 1996-10-01 Q03828 EVX2_HUMAN EVX2 Homeobox even-skipped homolog protein 2 476 47.8 2 Nucleus 0 0 0 1 4 1996-10-01 Q08648 SG11B_HUMAN SPAG11B Sperm-associated antigen 11B 103 11.4 8 Secreted 0 0 0 1 4 1995-11-01 Q12901 ZN155_HUMAN ZNF155 Zinc finger protein 155 538 62.1 19 Nucleus 0 0 0 1 4 1997-11-01 Q12999 TSN31_HUMAN TSPAN31 Tetraspanin-31 210 23.1 12 Membrane 4 0 0 1 4 1999-07-15 Q13103 SPP24_HUMAN SPP2 Secreted phosphoprotein 24 211 24.3 2 Secreted 0 0 0 1 4 1997-11-01 Q13106 ZN154_HUMAN ZNF154 Zinc finger protein 154 437 49.9 19 Nucleus 0 0 0 1 4 1998-07-15 Q13434 MKRN4_HUMAN MKRN4P Putative E3 ubiquitin-protein ligase makorin-4 485 52.9 2.3.2.27 0 0 0 5 4 2001-11-16 Q13956 CNCG_HUMAN PDE6H Retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma 83 9.1 12 Photoreceptor outer segment membrane 0 1 Achromatopsia 6 0 1 4 1997-11-01 Q14409 GLPK3_HUMAN GK3 Glycerol kinase 3 553 60.6 4 2.7.1.30 Mitochondrion outer membrane; Cytoplasm 1 0 0 1 4 2001-01-11 Q14681 KCTD2_HUMAN KCTD2 BTB/POZ domain-containing protein KCTD2 263 28.5 17 0 0 0 1 4 1997-11-01 Q14952 KI2S3_HUMAN KIR2DS3 Killer cell immunoglobulin-like receptor 2DS3 304 33.7 Cell membrane 1 0 0 1 4 1997-11-01 Q15035 TRAM2_HUMAN TRAM2 Translocating chain-associated membrane protein 2 370 43.3 6 Membrane 8 0 0 1 4 2001-08-29 Q15048 LRC14_HUMAN LRRC14 Leucine-rich repeat-containing protein 14 493 54.5 8 Cytoplasm 0 0 0 1 4 2000-05-30 Q15361 TTF1_HUMAN TTF1 Transcription termination factor 1 905 103.1 9 Nucleus 0 0 0 1 4 2006-10-03 Q15651 HMGN3_HUMAN HMGN3 High mobility group nucleosome-binding domain-containing protein 3 99 10.7 6 Nucleus 0 0 0 1 4 1997-11-01 Q15695 U2AFL_HUMAN ZRSR2P1 U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1 479 57.6 Nucleus 0 0 0 1 4 1997-11-01 Q15773 MLF2_HUMAN MLF2 Myeloid leukemia factor 2 248 28.1 12 Cytoplasm; Nucleus 0 0 0 1 4 2001-11-02 Q2M3D2 EX3L2_HUMAN EXOC3L2 Exocyst complex component 3-like protein 2 802 87.5 19 0 1 Brain malformation renal syndrome 0 1 4 2007-11-13 Q30KQ9 DB110_HUMAN DEFB110 Beta-defensin 110 67 8 6 Secreted 0 0 0 3 4 2005-12-20 Q32M78 ZN699_HUMAN ZNF699 Zinc finger protein 699 642 74 19 Nucleus 0 1 DEGCAGS syndrome 0 1 4 2006-05-02 Q3MJ13 WDR72_HUMAN WDR72 WD repeat-containing protein 72 1102 123.4 15 Cytoplasmic vesicle 0 1 Amelogenesis imperfecta, hypomaturation type, 2A3 0 1 4 2006-06-27 Q3ZCT1 ZN260_HUMAN ZNF260 Zinc finger protein 260 412 47.2 19 Nucleus 0 0 0 1 4 2005-11-08 Q4G0T1 SRCRM_HUMAN SCART1 Scavenger receptor cysteine-rich domain-containing protein SCART1 1027 108.6 10 Membrane 1 0 0 1 4 2008-06-10 Q4G148 GXLT1_HUMAN GXYLT1 Glucoside xylosyltransferase 1 440 50.6 12 2.4.2.42 Membrane 1 0 0 1 4 2007-05-29 Q52LR7 EPC2_HUMAN EPC2 Enhancer of polycomb homolog 2 807 91.1 2 Nucleus 0 0 0 1 4 2006-06-13 Q5DT21 ISK9_HUMAN SPINK9 Serine protease inhibitor Kazal-type 9 86 9.8 5 Secreted 0 0 0 1 4 2008-05-20 Q5HY92 FIGN_HUMAN FIGN Fidgetin 759 82.1 2 Nucleus matrix; Cytoplasm 0 0 0 1 4 2006-10-03 Q5HYI7 MTX3_HUMAN MTX3 Metaxin-3 312 35.1 5 Mitochondrion; Mitochondrion outer membrane 0 0 0 1 4 2008-05-20 Q5M9Q1 NKAPL_HUMAN NKAPL NKAP-like protein 402 46.3 6 Nucleus 0 0 0 1 4 2006-11-28 Q5MJ68 SPDYC_HUMAN SPDYC Speedy protein C 274 31.1 11 Cytoplasm 0 0 0 1 4 2006-05-02 Q5T0L3 SPT46_HUMAN SPATA46 Spermatogenesis-associated protein 46 261 29.2 1 Nucleus membrane 0 0 0 1 4 2007-03-06 Q5T1N1 AKND1_HUMAN AKNAD1 Protein AKNAD1 836 92.9 1 0 0 0 1 4 2008-07-01 Q5T1Q4 S35F1_HUMAN SLC35F1 Solute carrier family 35 member F1 408 45.3 6 Cytoplasmic vesicle 10 0 0 1 4 2007-10-23 Q5T9C9 PI5L1_HUMAN PIP5KL1 Phosphatidylinositol 4-phosphate 5-kinase-like protein 1 394 44.6 9 Cytoplasm; Membrane 0 0 0 1 4 2007-05-01 Q5TEC3 ZN697_HUMAN ZNF697 Zinc finger protein 697 545 60.5 1 Nucleus 0 0 0 1 4 2007-10-02 Q5VVW2 GARL3_HUMAN GARNL3 GTPase-activating Rap/Ran-GAP domain-like protein 3 1013 112.9 9 0 0 0 1 4 2007-12-04 Q5VYY2 LIPM_HUMAN LIPM Lipase member M 423 48.2 10 3.1.1.- Secreted 0 0 0 2 4 2007-05-15 Q5VZ52 MORN5_HUMAN MORN5 MORN repeat-containing protein 5 161 18.7 9 Cell projection 0 0 0 1 4 2007-06-26 Q5XX13 FBW10_HUMAN FBXW10 F-box/WD repeat-containing protein 10 1052 119.8 17 0 0 0 1 4 2008-01-15 Q68CQ7 GL8D1_HUMAN GLT8D1 Glycosyltransferase 8 domain-containing protein 1 371 41.9 3 2.4.1.- Golgi apparatus membrane 1 0 0 1 4 2007-05-29 Q6H9L7 ISM2_HUMAN ISM2 Isthmin-2 571 63.9 14 Secreted 0 0 0 1 4 2007-10-23 Q6JEL2 KLH10_HUMAN KLHL10 Kelch-like protein 10 608 68.9 17 Cytoplasm 0 1 Spermatogenic failure 11 0 1 4 2004-09-27 Q6MZW2 FSTL4_HUMAN FSTL4 Follistatin-related protein 4 842 93.1 5 Secreted 0 0 0 1 4 2006-10-03 Q6NSX1 CCD70_HUMAN CCDC70 Coiled-coil domain-containing protein 70 222 27.5 13 0 0 0 1 4 2006-05-16 Q6NUJ1 SAPL1_HUMAN PSAPL1 Proactivator polypeptide-like 1 521 56.6 4 Secreted 0 0 0 1 4 2007-03-20 Q6NUQ4 TM214_HUMAN TMEM214 Transmembrane protein 214 689 77.2 2 Endoplasmic reticulum membrane 2 0 0 1 4 2008-02-26 Q6P1K8 T2H2L_HUMAN GTF2H2C General transcription factor IIH subunit 2-like protein 395 44.5 5 Nucleus 0 0 0 1 4 2008-04-29 Q6P499 NPAL3_HUMAN NIPAL3 NIPA-like protein 3 406 44.7 1 Membrane 9 0 0 1 4 2006-06-27 Q6P7N7 TMM81_HUMAN TMEM81 Transmembrane protein 81 255 28.5 1 Cell membrane 1 0 0 1 4 2007-05-15 Q6P996 PDXD1_HUMAN PDXDC1 Pyridoxal-dependent decarboxylase domain-containing protein 1 788 86.7 16 4.1.1.- 0 0 0 1 4 2007-08-21 Q6PB30 CSAG1_HUMAN CSAG1 Chondrosarcoma-associated gene 1 protein 78 8.7 X Cytoplasm 0 0 0 1 4 2007-06-26 Q6R2W3 SCND3_HUMAN SCAND3 SCAN domain-containing protein 3 1325 151.7 6 Nucleus 0 0 0 1 4 2006-07-11 Q6UW32 IGFL1_HUMAN IGFL1 Insulin growth factor-like family member 1 110 12.4 19 Secreted 0 0 0 1 4 2005-12-20 Q6UX73 CP089_HUMAN C16orf89 UPF0764 protein C16orf89 402 45.4 16 Secreted 0 0 0 1 4 2008-03-18 Q6VUC0 AP2E_HUMAN TFAP2E Transcription factor AP-2-epsilon 442 46.2 1 Nucleus 0 0 0 1 4 2007-11-13 Q6XPR3 RPTN_HUMAN RPTN Repetin 784 90.7 1 Secreted 0 0 0 1 4 2005-07-05 Q6ZMV9 KIF6_HUMAN KIF6 Kinesin-like protein KIF6 814 92.6 6 Cytoplasm 0 0 0 1 4 2005-07-05 Q6ZN54 DEFI8_HUMAN DEF8 Differentially expressed in FDCP 8 homolog 512 58.7 16 0 0 0 1 4 2008-02-26 Q6ZNW5 GDPP1_HUMAN GDPGP1 GDP-D-glucose phosphorylase 1 385 42.4 15 2.7.7.78 Cytoplasm 0 0 0 1 4 2008-05-20 Q6ZSZ6 TSH1_HUMAN TSHZ1 Teashirt homolog 1 1077 117.9 18 Nucleus 0 1 Aural atresia, congenital 0 1 4 2006-01-10 Q6ZWK6 TM11F_HUMAN TMPRSS11F Transmembrane protease serine 11F 438 49.4 4 3.4.21.- Membrane 1 0 0 1 4 2007-09-11 Q7L9B9 EEPD1_HUMAN EEPD1 Endonuclease/exonuclease/phosphatase family domain-containing protein 1 569 62.4 7 0 0 0 1 4 2008-02-05 Q7LDI9 GAK6_HUMAN ERVK-6 Endogenous retrovirus group K member 6 Gag polyprotein 666 74.1 Cell membrane 0 0 0 1 4 2004-07-19 Q7RTU5 ASCL5_HUMAN ASCL5 Achaete-scute homolog 5 206 22.5 1 Nucleus; Cytoplasm 0 1 Lobodontia 0 1 4 2008-02-05 Q7RTV2 GSTA5_HUMAN GSTA5 Glutathione S-transferase A5 222 25.7 6 2.5.1.18 Cytoplasm 0 0 0 1 4 2004-07-19 Q7RTY9 PRS41_HUMAN PRSS41 Serine protease 41 318 35.1 16 3.4.21.- Cell membrane 0 0 0 1 4 2008-07-22 Q7Z3Z3 PIWL3_HUMAN PIWIL3 Piwi-like protein 3 882 101.1 22 Cytoplasm 0 0 0 1 4 2006-05-16 Q7Z4J2 GL6D1_HUMAN GLT6D1 Putative glycosyltransferase 6 domain-containing protein 1 276 32.6 9 2.4.1.- Membrane 1 0 0 5 4 2007-12-04 Q7Z601 GP142_HUMAN GPR142 G protein-coupled receptor 142 462 51.1 17 Cell membrane 7 0 0 2 4 2005-05-10 Q7Z745 MRO2B_HUMAN MROH2B Maestro heat-like repeat-containing protein family member 2B 1585 180.8 5 Cytoplasm; Cytoplasmic vesicle; Cell projection 0 0 0 1 4 2008-04-29 Q86UB9 TM135_HUMAN TMEM135 Transmembrane protein 135 458 52.3 11 Mitochondrion membrane; Peroxisome membrane 6 0 0 1 4 2007-04-17 Q86UP8 GTD2A_HUMAN GTF2IRD2 General transcription factor II-I repeat domain-containing protein 2A 949 107.2 7 Nucleus 0 0 0 1 4 2008-02-26 Q86VD1 MORC1_HUMAN MORC1 MORC family CW-type zinc finger protein 1 984 112.9 3 Nucleus 0 0 0 1 4 2006-09-05 Q86W33 TPRA1_HUMAN TPRA1 Transmembrane protein adipocyte-associated 1 373 41.1 3 Membrane 7 0 0 1 4 2006-01-10 Q86WS4 RDIC1_HUMAN REDIC1 Regulator of DNA class I crossover intermediates 1 652 74.5 12 Chromosome 0 0 0 1 4 2008-09-02 Q86X27 RGPS2_HUMAN RALGPS2 Ras-specific guanine nucleotide-releasing factor RalGPS2 583 65.2 1 Cytoplasm; Cell membrane 0 0 0 1 4 2008-02-26 Q86XD5 F131B_HUMAN FAM131B Protein FAM131B 332 35.8 7 0 0 0 1 4 2006-10-17 Q86XP6 GKN2_HUMAN GKN2 Gastrokine-2 184 20.5 2 Secreted 0 0 0 1 4 2006-10-03 Q86YH2 Z280B_HUMAN ZNF280B Zinc finger protein 280B 543 61.5 22 Nucleus 0 0 0 1 4 2003-08-15 Q8IVV2 LOXH1_HUMAN LOXHD1 Lipoxygenase homology domain-containing protein 1 2067 235.7 18 Cell projection 0 1 Deafness, autosomal recessive, 77 0 1 4 2007-10-23 Q8IWB9 TEX2_HUMAN TEX2 Testis-expressed protein 2 1127 125.3 17 Endoplasmic reticulum membrane; Nucleus membrane 2 0 0 1 4 2006-06-27 Q8IX18 DHX40_HUMAN DHX40 Probable ATP-dependent RNA helicase DHX40 779 88.6 17 3.6.4.13 0 0 0 1 4 2006-10-17 Q8IXZ3 SP8_HUMAN SP8 Transcription factor Sp8 490 48.7 7 Nucleus 0 0 0 1 4 2003-05-16 Q8IY42 PGKA1_HUMAN PGCKA1 PDCD10 and GCKIII kinases-associated protein 1 314 33.7 4 Cell membrane 0 0 0 1 4 2007-05-15 Q8IYN2 TCAL8_HUMAN TCEAL8 Transcription elongation factor A protein-like 8 117 13.6 X Nucleus 0 0 0 1 4 2006-05-30 Q8IYS4 DAAF8_HUMAN DNAAF8 Dynein axonemal assembly factor 8 520 55.7 16 Dynein axonemal particle; Cytoplasm 0 0 0 1 4 2007-07-10 Q8IZJ0 IFNL2_HUMAN IFNL2 Interferon lambda-2 200 22.3 19 Secreted 0 0 0 1 4 2004-11-23 Q8IZU8 DSEL_HUMAN DSEL Dermatan-sulfate epimerase-like protein 1212 139.2 18 5.1.-.- Membrane 2 0 0 1 4 2007-02-20 Q8IZV2 CKLF8_HUMAN CMTM8 CKLF-like MARVEL transmembrane domain-containing protein 8 173 19.6 3 Membrane 4 0 0 1 4 2003-09-19 Q8N118 CP4X1_HUMAN CYP4X1 Cytochrome P450 4X1 509 58.9 1 1.14.14.- Endoplasmic reticulum membrane; Microsome membrane 1 0 0 1 4 2004-06-07 Q8N3J9 ZN664_HUMAN ZNF664 Zinc finger protein 664 261 30.3 12 Nucleus 0 0 0 1 4 2007-07-24 Q8N436 CPXM2_HUMAN CPXM2 Inactive carboxypeptidase-like protein X2 756 85.9 10 Secreted 0 0 0 1 4 2003-01-17 Q8N442 GUF1_HUMAN GUF1 Translation factor GUF1, mitochondrial 669 74.3 4 3.6.5.- Mitochondrion inner membrane 0 1 Developmental and epileptic encephalopathy 40 0 1 4 2006-10-31 Q8N4P2 IT70B_HUMAN IFT70B Intraflagellar transport protein 70B 665 76.1 2 Cell projection 0 0 0 1 4 2008-06-10 Q8N5I3 KCNRG_HUMAN KCNRG Potassium channel regulatory protein 272 31 13 Endoplasmic reticulum 0 0 0 1 4 2006-05-30 Q8N5L8 RP25L_HUMAN RPP25L Ribonuclease P protein subunit p25-like protein 163 17.6 9 Nucleus 0 0 0 1 4 2007-01-09 Q8N7P1 PLD5_HUMAN PLD5 Inactive phospholipase D5 536 61.3 1 Membrane 1 0 0 1 4 2007-05-29 Q8N7R7 CCYL1_HUMAN CCNYL1 Cyclin-Y-like protein 1 359 40.7 2 Cell membrane 0 0 0 1 4 2007-11-13 Q8N859 ZN713_HUMAN ZNF713 Zinc finger protein 713 443 51.6 7 Nucleus 0 0 0 1 4 2006-05-02 Q8N8K9 K1958_HUMAN KIAA1958 Uncharacterized protein KIAA1958 716 79.2 9 0 0 0 1 4 2005-08-16 Q8N8L2 ZN491_HUMAN ZNF491 Zinc finger protein 491 437 51 19 Nucleus 0 0 0 1 4 2004-08-16 Q8N8Q9 NIPA2_HUMAN NIPA2 Magnesium transporter NIPA2 360 39.2 15 Cell membrane; Early endosome 9 0 0 1 4 2005-08-30 Q8N8Y5 ZFP41_HUMAN ZFP41 Zinc finger protein 41 homolog 198 22.8 8 Nucleus 0 0 0 1 4 2007-07-24 Q8N9H8 MUT7_HUMAN EXD3 Exonuclease mut-7 homolog 876 96.6 9 3.1.-.- 0 0 0 1 4 2008-02-26 Q8NA19 LMBL4_HUMAN L3MBTL4 Lethal(3)malignant brain tumor-like protein 4 623 71.1 18 Nucleus 0 0 0 1 4 2008-05-20 Q8NBH2 KY_HUMAN KY Kyphoscoliosis peptidase 661 75.2 3 3.4.-.- Cytoplasm 0 1 Myopathy, myofibrillar, 7 0 1 4 2007-05-29 Q8NBX0 SCPDL_HUMAN SCCPDH Saccharopine dehydrogenase-like oxidoreductase 429 47.2 1 1.-.-.- 0 0 0 1 4 2005-08-30 Q8NCN2 ZBT34_HUMAN ZBTB34 Zinc finger and BTB domain-containing protein 34 500 55.5 9 Nucleus 0 0 0 1 4 2004-08-16 Q8NCR3 MFI_HUMAN MFI Protein MFI 313 36.7 11 Cytoplasm; Mitochondrion outer membrane 0 0 0 1 4 2006-12-12 Q8NCY6 MSD4_HUMAN MSANTD4 Myb/SANT-like DNA-binding domain-containing protein 4 345 41.2 11 0 0 0 1 4 2007-12-04 Q8ND82 Z280C_HUMAN ZNF280C Zinc finger protein 280C 737 83.1 X Nucleus 0 0 0 1 4 2006-03-21 Q8NE28 STKL1_HUMAN STKLD1 Serine/threonine kinase-like domain-containing protein STKLD1 680 75.7 9 0 0 0 1 4 2006-03-21 Q8NG04 S2610_HUMAN SLC26A10P Putative solute carrier family 26 member 10P 563 60.1 12 Membrane 5 0 0 5 4 2008-07-22 Q8NGA0 OR7G1_HUMAN OR7G1 Olfactory receptor 7G1 311 34.8 19 Cell membrane 7 0 0 3 4 2003-10-10 Q8NGA4 G32P1_HUMAN GPR32P1 Putative G protein-coupled receptor GPR32P1 272 30.3 Cell membrane 5 0 0 5 4 2008-09-02 Q8NGD0 OR4M1_HUMAN OR4M1 Olfactory receptor 4M1 313 35.5 14 Cell membrane 7 0 0 2 4 2003-10-10 Q8NGK2 O52B4_HUMAN OR52B4 Olfactory receptor 52B4 314 35.6 11 Cell membrane 7 0 0 3 4 2003-10-10 Q8NGV6 OR5H6_HUMAN OR5H6 Olfactory receptor 5H6 325 36.7 3 Cell membrane 7 0 0 2 4 2003-10-10 Q8NGW6 OR6K6_HUMAN OR6K6 Olfactory receptor 6K6 343 38.4 1 Cell membrane 7 0 0 2 4 2003-10-10 Q8NH43 OR4L1_HUMAN OR4L1 Olfactory receptor 4L1 312 35.3 14 Cell membrane 7 0 0 3 4 2003-10-10 Q8NH69 OR5W2_HUMAN OR5W2 Olfactory receptor 5W2 310 35.2 11 Cell membrane 7 0 0 3 4 2005-12-20 Q8NI29 FBX27_HUMAN FBXO27 F-box only protein 27 283 31.6 19 0 0 0 1 4 2003-05-09 Q8TAQ9 SUN3_HUMAN SUN3 SUN domain-containing protein 3 357 40.5 7 Membrane; Nucleus envelope; Nucleus inner membrane 1 0 0 1 4 2007-12-04 Q8TBJ5 FEZF2_HUMAN FEZF2 Fez family zinc finger protein 2 459 48.8 3 Nucleus 0 0 0 1 4 2007-07-10 Q8TBZ5 ZN502_HUMAN ZNF502 Zinc finger protein 502 544 62.9 3 Nucleus 0 0 0 1 4 2004-03-15 Q8TC56 GAR3_HUMAN GARIN3 Golgi-associated RAB2 interactor protein 3 605 64.8 5 Golgi apparatus; Nucleus 0 0 0 1 4 2007-05-01 Q8TD20 GTR12_HUMAN SLC2A12 Solute carrier family 2, facilitated glucose transporter member 12 617 67 6 Cell membrane; Endomembrane system; Cytoplasm 12 0 0 1 4 2007-06-26 Q8TDM0 BCAS4_HUMAN BCAS4 Breast carcinoma-amplified sequence 4 211 22.8 20 Cytoplasm 0 0 0 1 4 2003-07-25 Q8TET4 GANC_HUMAN GANC Neutral alpha-glucosidase C 914 104.3 15 3.2.1.20 0 0 0 1 4 2004-06-07 Q8TF21 ANR24_HUMAN ANKRD24 Ankyrin repeat domain-containing protein 24 1146 124.2 19 Cell membrane; Cell projection 0 0 0 1 4 2008-04-08 Q8WV60 PTCD2_HUMAN PTCD2 Pentatricopeptide repeat-containing protein 2, mitochondrial 388 44 5 Mitochondrion 0 0 0 1 4 2008-07-22 Q8WXF0 SRS12_HUMAN SRSF12 Serine/arginine-rich splicing factor 12 261 30.5 6 Nucleus 0 0 0 1 4 2004-05-24 Q8WXQ8 CBPA5_HUMAN CPA5 Carboxypeptidase A5 436 49 7 3.4.17.- Secreted 0 0 0 1 4 2003-11-07 Q8WZ79 DNS2B_HUMAN DNASE2B Deoxyribonuclease-2-beta 361 41.7 1 3.1.22.1 Lysosome 0 0 0 1 4 2004-04-13 Q8WZA6 OR1E3_HUMAN OR1E3 Olfactory receptor 1E3 343 38.5 Cell membrane 7 0 0 3 4 2008-01-15 Q92928 RAB1C_HUMAN RAB1C Putative Ras-related protein Rab-1C 201 22 3.6.5.2 Membrane; Cytoplasm 0 0 0 5 4 2008-07-01 Q93075 TATD2_HUMAN TATDN2 3'-5' RNA nuclease TATDN2 761 85 3 3.1.13.- Nucleus 0 0 0 1 4 1997-11-01 Q969T3 SNX21_HUMAN SNX21 Sorting nexin-21 373 41.4 20 Cytoplasmic vesicle membrane; Early endosome membrane 0 0 0 1 4 2002-03-27 Q969W8 ZN566_HUMAN ZNF566 Zinc finger protein 566 418 49.2 19 Nucleus 0 0 0 1 4 2004-11-23 Q96A25 T106A_HUMAN TMEM106A Transmembrane protein 106A 262 28.9 17 Cell membrane 1 0 0 1 4 2006-06-27 Q96A28 SLAF9_HUMAN SLAMF9 SLAM family member 9 289 32.4 1 Membrane 1 0 0 2 4 2005-10-11 Q96A46 MFRN2_HUMAN SLC25A28 Mitoferrin-2 364 39.3 10 Mitochondrion inner membrane 6 0 0 1 4 2006-05-16 Q96CW6 S7A6O_HUMAN SLC7A6OS Probable RNA polymerase II nuclear localization protein SLC7A6OS 309 35 16 Cytoplasm; Nucleus 0 1 Epilepsy, progressive myoclonic 12 0 1 4 2007-05-29 Q96CX3 ZN501_HUMAN ZNF501 Zinc finger protein 501 271 31.2 3 Nucleus 0 0 0 1 4 2004-04-26 Q96DT0 LEG12_HUMAN LGALS12 Galectin-12 336 37.5 11 Nucleus 0 0 0 1 4 2002-04-03 Q96DU9 PABP5_HUMAN PABPC5 Polyadenylate-binding protein 5 382 43.3 X Cytoplasm 0 0 0 1 4 2003-02-01 Q96DX4 RSPRY_HUMAN RSPRY1 RING finger and SPRY domain-containing protein 1 576 64.2 16 Secreted 0 1 Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type 0 1 4 2007-02-20 Q96EF9 ZHX1R_HUMAN ZHX1-C8orf76 Zinc fingers and homeoboxes protein 1, isoform 2 292 33.3 8 0 0 0 1 4 2012-03-21 Q96EX2 RNFT2_HUMAN RNFT2 E3 ubiquitin-protein ligase RNFT2 444 49 12 Membrane 4 0 0 1 4 2007-03-06 Q96GX2 A7L3B_HUMAN ATXN7L3B Ataxin-7-like protein 3B 97 10.8 12 Cytoplasm 0 0 0 1 4 2010-03-23 Q96GY0 ZC21A_HUMAN ZC2HC1A Zinc finger C2HC domain-containing protein 1A 325 35.1 8 0 0 0 1 4 2007-03-20 Q96H78 S2544_HUMAN SLC25A44 Solute carrier family 25 member 44 314 35.4 1 Mitochondrion membrane 6 0 0 1 4 2006-10-17 Q96HE9 PRR11_HUMAN PRR11 Proline-rich protein 11 360 40.1 17 Cytoplasm; Nucleus 0 0 0 1 4 2006-06-27 Q96IG2 FXL20_HUMAN FBXL20 F-box/LRR-repeat protein 20 436 48.4 17 Cytoplasm 0 0 0 1 4 2003-11-21 Q96J86 CYYR1_HUMAN CYYR1 Cysteine and tyrosine-rich protein 1 154 16.6 21 Membrane 1 0 0 1 4 2002-12-13 Q96JA4 M4A14_HUMAN MS4A14 Membrane-spanning 4-domains subfamily A member 14 679 76.6 11 Membrane 4 0 0 1 4 2008-02-26 Q96JC4 ZN479_HUMAN ZNF479 Zinc finger protein 479 524 60.6 7 Nucleus 0 0 0 1 4 2003-11-07 Q96KJ9 COX42_HUMAN COX4I2 Cytochrome c oxidase subunit 4 isoform 2, mitochondrial 171 20 20 Mitochondrion inner membrane 1 1 Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis 0 1 4 2002-04-03 Q96KX0 LYZL4_HUMAN LYZL4 Lysozyme-like protein 4 146 16.4 3 Secreted; Cytoplasmic vesicle; Cell projection 0 0 0 1 4 2006-06-27 Q96L15 NAR5_HUMAN ART5 Ecto-ADP-ribosyltransferase 5 291 32.1 11 2.4.2.31 Secreted 0 0 0 1 4 2002-08-13 Q96LB0 MRGX3_HUMAN MRGPRX3 Mas-related G protein-coupled receptor member X3 322 36.5 11 Cell membrane 7 0 0 1 4 2004-07-19 Q96MT1 RN145_HUMAN RNF145 RING finger protein 145 663 75.6 5 2.3.2.27 Endoplasmic reticulum membrane 14 0 0 1 4 2007-07-10 Q96ND0 MIMS1_HUMAN MIMS1 Mitochondrial inner membrane scaffold 1 272 30.8 18 Mitochondrion inner membrane; Cytoplasm 1 0 0 1 4 2007-02-06 Q96P69 GPR78_HUMAN GPR78 G protein-coupled receptor 78 363 39.3 4 Cell membrane 7 0 0 1 4 2003-10-03 Q96PL1 SG3A2_HUMAN SCGB3A2 Secretoglobin family 3A member 2 93 10.2 5 Secreted 0 0 0 1 4 2002-01-23 Q96RA2 OR7D2_HUMAN OR7D2 Olfactory receptor 7D2 312 34.7 19 Cell membrane 7 0 0 1 4 2003-09-26 Q96SC8 DMTA2_HUMAN DMRTA2 Doublesex- and mab-3-related transcription factor A2 542 53.4 1 Nucleus 0 0 0 1 4 2008-05-20 Q99618 CDCA3_HUMAN CDCA3 Cell division cycle-associated protein 3 268 29 12 Cytoplasm 0 0 0 1 4 2007-05-15 Q99727 TIMP4_HUMAN TIMP4 Metalloproteinase inhibitor 4 224 25.5 3 Secreted 0 0 0 1 4 1998-12-15 Q99766 ATP5S_HUMAN DMAC2L ATP synthase subunit s, mitochondrial 200 23.2 14 Mitochondrion; Mitochondrion inner membrane 0 0 0 1 4 2000-05-30 Q99805 TM9S2_HUMAN TM9SF2 Transmembrane 9 superfamily member 2 663 75.8 13 Endosome membrane; Golgi outpost; Cytoplasm 9 0 0 1 4 2001-04-27 Q99865 SPI2A_HUMAN SPIN2A Spindlin-2A 258 29.2 X Nucleus 0 0 0 1 4 1997-11-01 Q99954 SMR3A_HUMAN SMR3A Submaxillary gland androgen-regulated protein 3A 134 14 4 Secreted 0 0 0 1 4 2002-05-27 Q9BPV8 P2Y13_HUMAN P2RY13 P2Y purinoceptor 13 354 40.8 3 Cell membrane 7 0 0 1 4 2003-10-10 Q9BQI4 CCDC3_HUMAN CCDC3 Coiled-coil domain-containing protein 3 270 30.7 10 Secreted 0 0 0 1 4 2004-07-19 Q9BQI7 PSD2_HUMAN PSD2 PH and SEC7 domain-containing protein 2 771 84.7 5 Cell membrane; Cell projection; Cleavage furrow 1 0 0 1 4 2008-05-20 Q9BRP1 PDD2L_HUMAN PDCD2L uS5 assembly chaperone PDCD2L 358 39.4 19 Nucleus; Cytoplasm 0 0 0 1 4 2007-01-23 Q9BSF8 BTBDA_HUMAN BTBD10 BTB/POZ domain-containing protein 10 475 53.8 11 Nucleus; Cytoplasm 0 0 0 1 4 2006-03-21 Q9BSG0 PADC1_HUMAN PRADC1 Protease-associated domain-containing protein 1 188 21 2 Secreted 0 0 0 1 4 2004-11-23 Q9BSN7 TM204_HUMAN TMEM204 Transmembrane protein 204 226 24.5 16 Cell junction; Cell membrane 4 0 0 1 4 2005-08-30 Q9BTT6 LRRC1_HUMAN LRRC1 Leucine-rich repeat-containing protein 1 524 59.2 6 Cytoplasm; Membrane 0 0 0 1 4 2004-07-19 Q9BXG8 SPZ1_HUMAN SPZ1 Spermatogenic leucine zipper protein 1 430 49.4 5 Cytoplasm; Nucleus 0 0 0 1 4 2007-03-20 Q9BXT5 TEX15_HUMAN TEX15 Testis-expressed protein 15 2789 315.3 8 Cytoplasm; Nucleus 0 1 Spermatogenic failure 25 0 1 4 2006-06-27 Q9C0D7 ZC12C_HUMAN ZC3H12C Probable ribonuclease ZC3H12C 883 99.3 11 3.1.-.- 0 0 0 1 4 2008-06-10 Q9GZK6 OR2J1_HUMAN OR2J1 Olfactory receptor 2J1 312 35.5 6 Cell membrane 7 0 0 3 4 2004-06-21 Q9GZP7 VN1R1_HUMAN VN1R1 Vomeronasal type-1 receptor 1 353 40 19 Cell membrane 7 0 0 2 4 2005-07-19 Q9GZZ0 HXD1_HUMAN HOXD1 Homeobox protein Hox-D1 328 34.1 2 Nucleus 0 0 0 1 4 2001-09-26 Q9H0K4 RSH6A_HUMAN RSPH6A Radial spoke head protein 6 homolog A 717 80.9 19 Cytoplasm 0 0 0 1 4 2007-12-04 Q9H0X4 F234A_HUMAN FAM234A Protein FAM234A 552 59.7 16 Membrane 1 0 0 1 4 2006-09-05 Q9H207 O10A5_HUMAN OR10A5 Olfactory receptor 10A5 317 35.5 11 Cell membrane 7 0 0 2 4 2001-06-20 Q9H213 MAGH1_HUMAN MAGEH1 Melanoma-associated antigen H1 219 24.4 X 0 0 0 1 4 2001-06-20 Q9H2Y7 ZN106_HUMAN ZNF106 Zinc finger protein 106 1883 208.9 15 Nucleus; Nucleus speckle 0 0 0 1 4 2004-08-31 Q9H340 O51B6_HUMAN OR51B6 Olfactory receptor 51B6 312 35.3 11 Cell membrane 7 0 0 3 4 2005-12-20 Q9H426 RIMS4_HUMAN RIMS4 Regulating synaptic membrane exocytosis protein 4 269 29.3 20 Synapse 0 0 0 1 4 2004-01-16 Q9H501 ESF1_HUMAN ESF1 ESF1 homolog 851 98.8 20 Nucleus 0 0 0 1 4 2002-11-25 Q9H5L6 THAP9_HUMAN THAP9 DNA transposase THAP9 903 103.4 4 2.7.7.- 0 0 0 1 4 2008-02-05 Q9H665 IGFR1_HUMAN IGFLR1 IGF-like family receptor 1 355 37.9 19 Cell membrane 1 0 0 1 4 2007-06-12 Q9H756 LRC19_HUMAN LRRC19 Leucine-rich repeat-containing protein 19 370 42.3 9 Membrane 1 0 0 1 4 2004-08-31 Q9H7T0 CTSRB_HUMAN CATSPERB Cation channel sperm-associated auxiliary subunit beta 1116 126.9 14 Cell projection 1 0 0 1 4 2005-07-05 Q9H7U1 CCSE2_HUMAN CCSER2 Serine-rich coiled-coil domain-containing protein 2 834 93.5 10 Cytoplasm 0 0 0 1 4 2007-11-13 Q9H8Y1 VRTN_HUMAN VRTN Vertnin 702 78.3 14 Nucleus 0 0 0 1 4 2004-01-16 Q9H967 WDR76_HUMAN WDR76 WD repeat-containing protein 76 626 69.8 15 0 0 0 1 4 2006-06-27 Q9HA92 RSAD1_HUMAN RSAD1 Radical S-adenosyl methionine domain-containing protein 1, mitochondrial 442 48.7 17 Mitochondrion 0 0 0 1 4 2007-04-17 Q9HCN8 SDF2L_HUMAN SDF2L1 Stromal cell-derived factor 2-like protein 1 221 23.6 22 Endoplasmic reticulum lumen 0 0 0 1 4 2002-06-20 Q9HCT0 FGF22_HUMAN FGF22 Fibroblast growth factor 22 170 19.7 19 Secreted 0 0 0 1 4 2001-04-27 Q9HDB9 GAK5_HUMAN ERVK-5 Endogenous retrovirus group K member 5 Gag polyprotein 667 73.6 3 Cell membrane 0 0 0 1 4 2004-07-19 Q9N2J8 ENH3_HUMAN HERV-H_2q24.1 provirus ancestral Env polyprotein 555 60.9 Virion 1 0 0 2 4 2004-03-01 Q9NPA3 M1IP1_HUMAN MID1IP1 Mid1-interacting protein 1 183 20.2 X Nucleus; Cytoplasm 0 0 0 1 4 2002-07-11 Q9NQ03 SCRT2_HUMAN SCRT2 Transcriptional repressor scratch 2 307 32.6 20 Nucleus 0 0 0 1 4 2004-04-13 Q9NQ60 EQTN_HUMAN EQTN Equatorin 294 32.8 9 Cytoplasmic vesicle 1 0 0 1 4 2007-05-15 Q9NQA3 WASH6_HUMAN WASH6P WAS protein family homolog 6 447 48 Early endosome membrane; Recycling endosome membrane 0 0 0 1 4 2008-07-22 Q9NQT6 FSCN3_HUMAN FSCN3 Fascin-3 498 56.6 7 Cytoplasm 0 0 0 1 4 2001-09-26 Q9NRJ1 MOST1_HUMAN C8orf17 Protein MOST-1 99 11.2 Cytoplasm; Microsome membrane; Endoplasmic reticulum membrane 0 0 0 1 4 2008-04-29 Q9NRJ5 PAPOB_HUMAN PAPOLB Poly(A) polymerase beta 637 71.8 7 2.7.7.19 Cytoplasm; Nucleus 0 0 0 1 4 2001-09-26 Q9NRM2 ZN277_HUMAN ZNF277 Zinc finger protein 277 450 52.8 7 Nucleus 0 0 0 1 4 2001-01-11 Q9NRY5 F1142_HUMAN FAM114A2 Protein FAM114A2 505 55.5 5 0 0 0 1 4 2007-02-06 Q9NS98 SEM3G_HUMAN SEMA3G Semaphorin-3G 782 86.7 3 Secreted 0 0 0 1 4 2006-10-31 Q9NTI7 INKA2_HUMAN INKA2 PAK4-inhibitor INKA2 297 32.8 1 Nucleus 0 0 0 1 4 2007-10-02 Q9NTU7 CBLN4_HUMAN CBLN4 Cerebellin-4 201 21.8 20 Secreted; Synapse 0 0 0 1 4 2001-04-27 Q9NU02 ANKE1_HUMAN ANKEF1 Ankyrin repeat and EF-hand domain-containing protein 1 776 86.7 20 0 0 0 1 4 2002-01-23 Q9NUQ6 SPS2L_HUMAN SPATS2L SPATS2-like protein 558 61.7 2 Cytoplasm; Nucleus 0 0 0 1 4 2007-10-23 Q9NUQ8 ABCF3_HUMAN ABCF3 ATP-binding cassette sub-family F member 3 709 79.7 3 0 0 0 1 4 2006-09-05 Q9NUZ1 ACOXL_HUMAN ACOXL Acyl-coenzyme A oxidase-like protein 547 61.8 2 1.3.3.- 0 0 0 1 4 2007-10-02 Q9NV39 PRR34_HUMAN PRR34 Proline-rich protein 34 138 14.7 0 0 0 1 4 2007-01-09 Q9NV66 TYW1_HUMAN TYW1 S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 732 83.7 7 4.1.3.44 0 0 0 1 4 2007-04-03 Q9NX45 SOLH2_HUMAN SOHLH2 Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 425 46.9 13 Nucleus; Cytoplasm 0 0 0 1 4 2008-01-15 Q9NYW2 TA2R8_HUMAN TAS2R8 Taste receptor type 2 member 8 309 35.9 12 Membrane 7 0 0 1 4 2003-04-11 Q9NZR1 TMOD2_HUMAN TMOD2 Tropomodulin-2 351 39.6 15 Cytoplasm 0 0 0 1 4 2002-09-19 Q9NZT2 OGFR_HUMAN OGFR Opioid growth factor receptor 677 73.3 20 Cytoplasm; Nucleus 0 0 0 1 4 2003-02-01 Q9P031 TAP26_HUMAN CCDC59 Thyroid transcription factor 1-associated protein 26 241 28.7 12 Nucleus 0 0 0 1 4 2007-08-21 Q9P242 NYAP2_HUMAN NYAP2 Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 2 653 70.5 2 0 0 0 1 4 2008-03-18 Q9P266 JCAD_HUMAN JCAD Junctional cadherin 5-associated protein 1359 148.4 10 Cell junction 0 0 0 1 4 2008-01-15 Q9UBG7 RBPJL_HUMAN RBPJL Recombining binding protein suppressor of hairless-like protein 517 56.8 20 Nucleus 0 0 0 1 4 2002-11-01 Q9UBU6 FA8A1_HUMAN FAM8A1 Protein FAM8A1 413 44.1 6 Membrane 3 0 0 1 4 2005-10-25 Q9UDV7 ZN282_HUMAN ZNF282 Zinc finger protein 282 671 74.3 7 Nucleus 0 0 0 1 4 2001-01-24 Q9UJT0 TBE_HUMAN TUBE1 Tubulin epsilon chain 475 52.9 6 Cytoplasm 0 0 0 1 4 2000-12-01 Q9UJW7 ZN229_HUMAN ZNF229 Zinc finger protein 229 825 93.8 19 Nucleus 0 0 0 1 4 2000-12-01 Q9UK08 GBG8_HUMAN GNG8 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-8 70 7.8 19 Cell membrane 0 0 0 1 4 2000-12-01 Q9UL36 ZN236_HUMAN ZNF236 Zinc finger protein 236 1845 203.7 18 Nucleus 0 0 0 1 4 2000-12-01 Q9UL58 ZN215_HUMAN ZNF215 Zinc finger protein 215 517 60 11 Nucleus 0 0 0 1 4 2000-12-01 Q9ULR5 PAI2B_HUMAN PAIP2B Polyadenylate-binding protein-interacting protein 2B 123 14.2 2 0 0 0 1 4 2008-02-05 Q9UN67 PCDBA_HUMAN PCDHB10 Protocadherin beta-10 800 87.6 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y2U2 KCNK7_HUMAN KCNK7 Potassium channel subfamily K member 7 307 31.9 11 Membrane 4 0 0 1 4 2001-02-21 Q9Y426 C2CD2_HUMAN C2CD2 C2 domain-containing protein 2 696 75.5 21 Membrane 1 0 0 1 4 2000-05-30 Q9Y4I5 MTL5_HUMAN TESMIN Tesmin 508 55 11 Cytoplasm; Nucleus 0 0 0 1 4 2001-09-26 Q9Y585 OR1A2_HUMAN OR1A2 Olfactory receptor 1A2 309 34.4 17 Cell membrane 7 0 0 1 4 2000-12-01 Q9Y5F0 PCDBD_HUMAN PCDHB13 Protocadherin beta-13 798 87.6 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5F3 PCDB1_HUMAN PCDHB1 Protocadherin beta-1 818 90.5 5 Cell membrane 1 0 0 1 4 2001-04-27 Q9Y5G0 PCDGH_HUMAN PCDHGB5 Protocadherin gamma-B5 923 99.9 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5G4 PCDG9_HUMAN PCDHGA9 Protocadherin gamma-A9 932 101.7 5 Cell membrane 1 0 0 1 4 2003-10-24 Q9Y5J9 TIM8B_HUMAN TIMM8B Mitochondrial import inner membrane translocase subunit Tim8 B 83 9.3 11 Mitochondrion inner membrane 0 0 0 1 4 2001-01-11 Q9Y644 RFNG_HUMAN RFNG Beta-1,3-N-acetylglucosaminyltransferase radical fringe 331 36.4 17 2.4.1.222 Golgi apparatus membrane 1 0 0 1 4 2003-01-10 A0A075B6I0 LV861_HUMAN IGLV8-61 Immunoglobulin lambda variable 8-61 122 12.8 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6I6 LV150_HUMAN IGLV1-50 Probable non-functional immunoglobulin lambda variable 1-50 118 12.3 22 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A075B6K6 LV403_HUMAN IGLV4-3 Immunoglobulin lambda variable 4-3 122 13.3 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6L2 TVG11_HUMAN TRGV11 Probable non-functional T cell receptor gamma variable 11 119 13.6 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A075B6P5 KV228_HUMAN IGKV2-28 Immunoglobulin kappa variable 2-28 120 13 2 Secreted; Cell membrane 0 0 0 3 3 2016-11-02 A0A075B6R9 KVD24_HUMAN IGKV2D-24 Probable non-functional immunoglobulin kappa variable 2D-24 120 13.1 2 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A075B6S4 KVD17_HUMAN IGKV1D-17 Immunoglobulin kappa variable 1D-17 117 12.8 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6S6 KVD30_HUMAN IGKV2D-30 Immunoglobulin kappa variable 2D-30 120 13.2 2 Secreted; Cell membrane 0 0 0 1 3 2016-11-02 A0A075B6T7 TVA6_HUMAN TRAV6 T cell receptor alpha variable 6 132 15.4 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A075B6T8 TVA91_HUMAN TRAV9-1 T cell receptor alpha variable 9-1 112 12.4 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A075B6U4 TVA7_HUMAN TRAV7 T cell receptor alpha variable 7 112 12.6 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A075B6W5 TVA23_HUMAN TRAV23DV6 T cell receptor alpha variable 23/delta variable 6 121 13.5 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A075B734 AQP7B_HUMAN AQP7B Putative aquaporin-7B 346 38 2 Membrane 6 0 0 3 3 2022-05-25 A0A075B767 PAL4H_HUMAN PPIAL4H Peptidyl-prolyl cis-trans isomerase A-like 4H 164 18.2 1 5.2.1.8 Cytoplasm 0 0 0 1 3 2018-12-05 A0A087WW87 KV240_HUMAN IGKV2-40 Immunoglobulin kappa variable 2-40 121 13.3 2 Secreted; Cell membrane 0 0 0 3 3 2017-01-18 A0A0A0MRZ7 KVD26_HUMAN IGKV2D-26 Immunoglobulin kappa variable 2D-26 120 13.3 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0A0MRZ8 KVD11_HUMAN IGKV3D-11 Immunoglobulin kappa variable 3D-11 115 12.6 2 Secreted; Cell membrane 0 0 0 3 3 2017-01-18 A0A0A0MRZ9 LV552_HUMAN IGLV5-52 Immunoglobulin lambda variable 5-52 124 13.4 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0A0MS03 TVB53_HUMAN TRBV5-3 Probable non-functional T cell receptor beta variable 5-3 114 12.6 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A0A0MS14 HV145_HUMAN IGHV1-45 Immunoglobulin heavy variable 1-45 117 13.5 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A0A6YYG3 TVB68_HUMAN TRBV6-8 T cell receptor beta variable 6-8 113 12.3 7 Cell membrane 0 0 0 3 3 2018-04-25 A0A0A6YYK4 TVB71_HUMAN TRBV7-1 Probable non-functional T cell receptor beta variable 7-1 115 12.6 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A0B4J1U7 HV601_HUMAN IGHV6-1 Immunoglobulin heavy variable 6-1 121 13.5 14 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0B4J1Y8 LV949_HUMAN IGLV9-49 Immunoglobulin lambda variable 9-49 123 13 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0B4J1Z2 KVD43_HUMAN IGKV1D-43 Immunoglobulin kappa variable 1D-43 117 13 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0B4J235 TVAM2_HUMAN TRAV13-2 T cell receptor alpha variable 13-2 113 12.7 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A0B4J237 TVA82_HUMAN TRAV8-2 T cell receptor alpha variable 8-2 113 12.4 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A0B4J248 TVA11_HUMAN TRAV1-1 T cell receptor alpha variable 1-1 108 11.9 14 Cell membrane 0 0 0 1 3 2018-01-31 A0A0B4J265 TVAZ2_HUMAN TRAV26-2 T cell receptor alpha variable 26-2 109 12.2 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0B4J280 TVA40_HUMAN TRAV40 T cell receptor alpha variable 40 105 11.6 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A0C4DH25 KVD20_HUMAN IGKV3D-20 Immunoglobulin kappa variable 3D-20 116 12.5 2 Secreted; Cell membrane 0 0 0 1 3 2016-11-02 A0A0C4DH32 HV320_HUMAN IGHV3-20 Immunoglobulin heavy variable 3-20 117 12.7 14 Secreted; Cell membrane 0 0 0 1 3 2017-04-12 A0A0C4DH55 KVD07_HUMAN IGKV3D-7 Immunoglobulin kappa variable 3D-7 119 13.1 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0C4DH59 TVB54_HUMAN TRBV5-4 T cell receptor beta variable 5-4 114 12.5 7 Cell membrane 0 0 0 3 3 2018-03-28 A0A0C4DH72 KV106_HUMAN IGKV1-6 Immunoglobulin kappa variable 1-6 117 12.7 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0G2JMI3 HV692_HUMAN IGHV1-69-2 Immunoglobulin heavy variable 1-69-2 117 12.9 14 Secreted; Cell membrane 0 0 0 1 3 2017-04-12 A0A0K0K1G6 TVBJ3_HUMAN TRBV10-3 T cell receptor beta variable 10-3 114 13 7 Cell membrane 0 0 0 1 3 2018-04-25 A0A1B0GUS4 UB2L5_HUMAN UBE2L5 Ubiquitin-conjugating enzyme E2 L5 154 17.9 13 2.3.2.23 0 0 0 1 3 2018-03-28 A0A1B0GUW7 TZMP1_HUMAN TZMP1 Transition zone microprotein 1 55 6.4 9 Cell projection 1 0 0 1 3 2018-02-28 A0A1W2PPD8 KDM4F_HUMAN KDM4F Probable lysine-specific demethylase 4F 638 71 11 1.14.11.66 Nucleus 0 0 0 3 3 2023-02-22 A0A1W2PPM1 CPHXL_HUMAN CPHXL Cytoplasmic polyadenylated homeobox-like protein 405 45.7 16 Nucleus 0 0 0 2 3 2019-06-05 A0A1W2PQC6 S72L4_HUMAN SSU72L4 RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 4 194 22.5 11 Nucleus 0 0 0 3 3 2023-02-22 A0A1W2PR19 GSTT4_HUMAN GSTT4 Glutathione S-transferase theta-4 241 27.9 22 2.5.1.18 Cytoplasm 0 0 0 3 3 2018-06-20 A0A3B3IT45 O51C1_HUMAN OR51C1 Olfactory receptor OR51C1 312 34.8 11 Membrane 7 0 0 3 3 2025-02-05 A0A577 TVB41_HUMAN TRBV4-1 T cell receptor beta variable 4-1 114 12.9 7 Cell membrane 0 0 0 1 3 2018-02-28 A0A589 TVB43_HUMAN TRBV4-3 T cell receptor beta variable 4-3 114 12.9 Cell membrane 0 0 0 1 3 2018-04-25 A0A5A2 TVB58_HUMAN TRBV5-8 T cell receptor beta variable 5-8 114 12.7 Cell membrane 0 0 0 3 3 2018-04-25 A0PJE2 DHR12_HUMAN DHRS12 Dehydrogenase/reductase SDR family member 12 317 35.1 13 1.1.-.- 0 0 0 1 3 2007-12-04 A0PJX2 TLDC2_HUMAN TLDC2 TLD domain-containing protein 2 215 23.9 20 0 0 0 1 3 2008-02-26 A1A4F0 S66AL_HUMAN SLC66A1LP Putative uncharacterized protein SLC66A1LP 135 15.6 3 0 0 0 5 3 2007-09-11 A1A580 KR231_HUMAN KRTAP23-1 Keratin-associated protein 23-1 65 6.9 21 0 0 0 1 3 2007-06-12 A1IGU5 ARH37_HUMAN ARHGEF37 Rho guanine nucleotide exchange factor 37 675 76.3 5 0 0 0 1 3 2008-05-20 A2RRH5 WDR27_HUMAN WDR27 WD repeat-containing protein 27 827 90 6 0 0 0 1 3 2007-10-02 A2RU48 SMCO3_HUMAN SMCO3 Single-pass membrane and coiled-coil domain-containing protein 3 225 24.9 12 Membrane 1 0 0 1 3 2008-05-20 A2RUR9 C144A_HUMAN CCDC144A Coiled-coil domain-containing protein 144A 1427 165.1 17 0 0 0 1 3 2007-12-04 A4D0V7 CPED1_HUMAN CPED1 Cadherin-like and PC-esterase domain-containing protein 1 1026 117.5 7 0 0 0 1 3 2008-02-05 A4D1S0 KLRG2_HUMAN KLRG2 Killer cell lectin-like receptor subfamily G member 2 409 42.9 7 Membrane 1 0 0 1 3 2008-02-05 A4D1U4 DEN11_HUMAN DENND11 DENN domain-containing protein 11 455 51.4 7 0 0 0 1 3 2008-01-15 A4D2H0 CTGEF_HUMAN CTAGE15 cTAGE family member 15 777 87.9 7 Membrane 1 0 0 2 3 2013-05-29 A6NC78 GOG8I_HUMAN GOLGA8IP Putative golgin subfamily A member 8I 632 71.3 Golgi apparatus 0 0 0 5 3 2008-04-08 A6NCV1 O6C74_HUMAN OR6C74 Olfactory receptor 6C74 312 35.3 12 Cell membrane 7 0 0 2 3 2007-11-13 A6NDY0 EPAB2_HUMAN PABPN1L Embryonic polyadenylate-binding protein 2 278 30.4 16 Cytoplasm 0 0 0 1 3 2008-09-02 A6NEL2 SWAHB_HUMAN SOWAHB Ankyrin repeat domain-containing protein SOWAHB 793 85.7 4 0 0 0 1 3 2008-02-05 A6NHM9 MOXD2_HUMAN MOXD2P Putative DBH-like monooxygenase protein 2 499 56.3 1.14.17.- 0 0 0 5 3 2007-10-02 A6NHN0 OTOL1_HUMAN OTOL1 Otolin-1 477 49.4 3 Secreted 0 0 0 1 3 2008-04-29 A6NIE9 PRS29_HUMAN PRSS29P Putative serine protease 29 313 34.1 3.4.21.- Secreted 0 0 0 5 3 2008-09-02 A6NIZ1 RP1BL_HUMAN RAP1BL Ras-related protein Rap-1b-like protein 184 20.9 3.6.5.2 Cell membrane; Cytoplasm 0 0 0 1 3 2008-07-22 A6NJT0 UNC4_HUMAN UNCX Homeobox protein unc-4 homolog 531 53.7 7 Nucleus 0 0 0 1 3 2008-05-20 A6NJW9 CD8B2_HUMAN CD8B2 T-cell surface glycoprotein CD8 beta-2 chain 210 23.7 2 Cell membrane 1 0 0 3 3 2008-06-10 A6NK53 ZN233_HUMAN ZNF233 Zinc finger protein 233 670 76.9 19 Nucleus 0 0 0 1 3 2007-09-11 A6NKD2 TSPY2_HUMAN TSPY2 Testis-specific Y-encoded protein 2 308 35.1 Y Cytoplasm; Nucleus 0 0 0 1 3 2008-05-20 A6NKT7 RGPD3_HUMAN RGPD3 RanBP2-like and GRIP domain-containing protein 3 1758 197.5 2 0 0 0 1 3 2008-06-10 A6NM76 O6C76_HUMAN OR6C76 Olfactory receptor 6C76 312 35.1 12 Cell membrane 7 0 0 3 3 2007-11-13 A6NMS3 OR5K4_HUMAN OR5K4 Olfactory receptor 5K4 321 36.7 3 Cell membrane 7 0 0 3 3 2007-12-04 A6NMS7 L37A1_HUMAN LRRC37A Leucine-rich repeat-containing protein 37A 1700 188.3 17 Membrane 1 0 0 1 3 2008-05-20 A6NMU1 O52A4_HUMAN OR52A4P Olfactory receptor 52A4 304 34.9 Cell membrane 7 0 0 2 3 2007-12-04 A6NMZ2 SNTAN_HUMAN SNTN Sentan 147 16.5 3 Cell projection 0 0 0 1 3 2008-07-01 A6NMZ5 O4C45_HUMAN OR4C45 Olfactory receptor 4C45 306 34 Cell membrane 7 0 0 3 3 2007-12-04 A6NN14 ZN729_HUMAN ZNF729 Zinc finger protein 729 1252 145 19 Nucleus 0 0 0 1 3 2008-04-29 A6QL64 AN36A_HUMAN ANKRD36 Ankyrin repeat domain-containing protein 36A 1915 214.5 2 0 0 0 1 3 2008-05-20 A8MQT2 GOG8B_HUMAN GOLGA8B Golgin subfamily A member 8B 603 67.3 15 Golgi apparatus 0 0 0 1 3 2008-01-15 A8MTB9 CEA18_HUMAN CEACAM18 Cell adhesion molecule CEACAM18 384 43.3 19 0 0 0 3 3 2008-06-10 A8MTI9 PRS47_HUMAN PRSS47P Putative serine protease 47 375 41.2 3.4.21.- Secreted 0 0 0 5 3 2008-07-22 A8MUV8 ZN727_HUMAN ZNF727 Zinc finger protein 727 499 58 7 Nucleus 0 0 0 1 3 2008-09-02 A8MVA2 KRA96_HUMAN KRTAP9-6 Keratin-associated protein 9-6 160 16.8 17 0 0 0 1 3 2008-04-29 A8MVU1 NCF1C_HUMAN NCF1C Putative neutrophil cytosol factor 1C 366 41.9 Cytoplasm 0 0 0 5 3 2008-09-02 A8MVZ5 BTNLA_HUMAN BTNL10P Putative butyrophilin-like protein 10 291 32.6 Membrane 1 0 0 5 3 2012-05-16 A8MWD9 RUXGL_HUMAN SNRPGP15 Putative small nuclear ribonucleoprotein G-like protein 15 76 8.5 Nucleus 0 0 0 5 3 2008-09-02 A8MWK0 FS2P1_HUMAN FADS2B Putative fatty acid desaturase 2-like protein FADS2B 482 56.4 Endoplasmic reticulum membrane 4 0 0 5 3 2008-09-02 A8MXE2 B3GT9_HUMAN B3GALT9 Beta-1,3-galactosyltransferase 9 369 42.8 9 2.4.1.- Golgi apparatus membrane 1 0 0 1 3 2008-09-02 B2RXH4 BTBDI_HUMAN BTBD18 BTB/POZ domain-containing protein 18 712 77.9 11 Nucleus 0 0 0 1 3 2010-05-18 B4DH59 NBPFP_HUMAN NBPF26 NBPF family member NBPF26 1673 190.2 1 Cytoplasm 0 0 0 1 3 2014-04-16 B4DU55 ZN879_HUMAN ZNF879 Zinc finger protein 879 563 64.6 5 Nucleus 0 0 0 1 3 2010-05-18 B5ME19 EIFCL_HUMAN EIF3CL Eukaryotic translation initiation factor 3 subunit C-like protein 914 105.5 16 Cytoplasm 0 0 0 1 3 2013-06-26 B7ZC32 KIF28_HUMAN KIF28P Kinesin-like protein KIF28P 967 108.3 Mitochondrion membrane 0 0 0 1 3 2012-02-22 C0HLZ6 HAS3P_HUMAN HOXB-AS3 HOXB-AS3 peptide 53 5.6 0 0 0 1 3 2022-02-23 C0HMD6 APDD1_HUMAN PIDD1 PIDD1 alternative open reading frame protein 171 16.6 11 Cytoplasm 0 0 0 1 3 2025-04-09 C9J069 AJM1_HUMAN AJM1 Apical junction component 1 homolog 976 106.7 9 Apical cell membrane; Cell projection; Cell junction 0 0 0 1 3 2010-03-23 C9JPN9 UL17C_HUMAN USP17L12 Ubiquitin carboxyl-terminal hydrolase 17-like protein 12 530 59.7 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 D6RA61 U17LM_HUMAN USP17L22 Ubiquitin carboxyl-terminal hydrolase 17-like protein 22 530 59.7 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 E2RYF7 PBMU2_HUMAN HCG22 Protein PBMUCL2 251 26.3 Secreted 0 0 0 1 3 2011-06-28 O14709 ZN197_HUMAN ZNF197 Zinc finger protein 197 1029 118.8 3 Nucleus 0 0 0 1 3 2000-12-01 O14715 RGPD8_HUMAN RGPD8 RANBP2-like and GRIP domain-containing protein 8 1765 199 2 0 0 0 1 3 2005-12-06 O14921 RGS13_HUMAN RGS13 Regulator of G protein signaling 13 159 19.1 1 0 0 0 1 3 1998-12-15 O15480 MAGB3_HUMAN MAGEB3 Melanoma-associated antigen B3 346 39.2 X 0 0 0 1 3 1998-12-15 O43361 ZN749_HUMAN ZNF749 Zinc finger protein 749 778 90.4 19 Nucleus 0 0 0 1 3 2007-02-06 O60403 O10H2_HUMAN OR10H2 Olfactory receptor 10H2 315 34.7 19 Cell membrane 7 0 0 2 3 2001-06-20 O60637 TSN3_HUMAN TSPAN3 Tetraspanin-3 253 28 15 Membrane 4 0 0 1 3 2000-12-01 O60809 PRA10_HUMAN PRAMEF10 PRAME family member 10 474 55.2 1 0 0 0 1 3 2000-05-30 O60810 PRAM4_HUMAN PRAMEF4 PRAME family member 4 478 55.4 1 0 0 0 2 3 2000-05-30 O76087 GAGE7_HUMAN GAGE7 G antigen 7 117 13 X 0 0 0 2 3 2000-05-30 O95157 NXPH3_HUMAN NXPH3 Neurexophilin-3 252 28.1 17 Secreted 0 0 0 1 3 2000-12-01 O96001 PPR17_HUMAN PPP1R17 Protein phosphatase 1 regulatory subunit 17 155 17.9 7 0 0 0 1 3 2000-05-30 P01737 TVA84_HUMAN TRAV8-4 T cell receptor alpha variable 8-4 113 12.4 14 Cell membrane 0 0 0 2 3 1986-07-21 P09131 P3_HUMAN SLC10A3 P3 protein 477 50.3 X Membrane 8 0 0 1 3 1989-07-01 P0C604 OR4A8_HUMAN OR4A8 Olfactory receptor 4A8 315 35.6 Cell membrane 7 0 0 3 3 2008-01-15 P0C617 O5AL1_HUMAN OR5AL1 Olfactory receptor 5AL1 329 36.9 Cell membrane 7 0 0 3 3 2008-01-15 P0C623 OR4Q2_HUMAN OR4Q2 Olfactory receptor 4Q2 314 35.6 14 Cell membrane 7 0 0 3 3 2008-01-15 P0C628 O5AC1_HUMAN OR5AC1 Olfactory receptor 5AC1 307 34.8 Cell membrane 7 0 0 3 3 2008-01-15 P0C7N5 OR8U9_HUMAN OR8U9 Olfactory receptor 8U9 309 35.1 Cell membrane 7 0 0 3 3 2008-06-10 P0C7P4 UCRIL_HUMAN UQCRFS1P1 Putative cytochrome b-c1 complex subunit Rieske-like protein 1 283 30.8 Membrane 1 0 0 5 3 2008-07-01 P0C7T4 HMSDV_HUMAN HMSD Minor histocompatibility protein HMSD variant form 53 6 18 0 0 0 1 3 2008-07-22 P0CG12 DERPC_HUMAN DERPC Decreased expression in renal and prostate cancer protein 524 51.4 16 Nucleus 0 0 0 1 3 2010-06-15 P0CG35 TB15B_HUMAN TMSB15B Thymosin beta-15B 45 5.2 X Cytoplasm 0 0 0 1 3 2010-07-13 P0DN37 PAL4G_HUMAN PPIAL4G Peptidyl-prolyl cis-trans isomerase A-like 4G 164 18.2 1 5.2.1.8 Cytoplasm 0 0 0 1 3 2015-10-14 P0DN80 OR5H8_HUMAN OR5H8 Olfactory receptor 5H8 308 34.8 Cell membrane 7 0 0 3 3 2016-02-17 P0DP73 D130B_HUMAN DEFB130B Beta-defensin 130B 79 8.7 8 Secreted 0 0 0 2 3 2017-07-05 P0DPF4 TVA35_HUMAN TRAV35 T cell receptor alpha variable 35 110 12.3 Cell membrane 0 0 0 3 3 2018-04-25 P0DPQ6 DT3UO_HUMAN DDIT3 DDIT3 upstream open reading frame protein 34 4.3 12 Nucleus; Cytoplasm 0 0 0 1 3 2018-10-10 P0DTE1 HV383_HUMAN IGHV3-38-3 Probable non-functional immunoglobulin heavy variable 3-38-3 115 12.7 Secreted; Cell membrane 0 0 0 1 3 2020-08-12 P0DX53 GOG8G_HUMAN GOLGA8G Golgin subfamily A member 8G 648 73 15 0 0 0 2 3 2024-01-24 P0DY26 D109D_HUMAN DEFB109D Beta-defensin 109D 87 10 8 Secreted 0 0 0 3 3 2025-04-09 P0DY57 ARTEL_HUMAN RASAL2-AS1 Putative protein encoded by LncRNA PSR 106 12.2 Membrane 1 0 0 5 3 2026-01-28 P31275 HXC12_HUMAN HOXC12 Homeobox protein Hox-C12 282 30.2 12 Nucleus 0 0 0 1 3 1993-07-01 P52743 ZN137_HUMAN ZNF137P Putative zinc finger protein 137 207 24.1 Nucleus 0 0 0 5 3 1996-10-01 P55822 SH3BG_HUMAN SH3BGR SH3 domain-binding glutamic acid-rich protein 239 26.1 21 0 0 0 1 3 1997-11-01 P58170 OR1D5_HUMAN OR1D5 Olfactory receptor 1D5 312 35.4 17 Cell membrane 7 0 0 2 3 2001-06-20 P58181 O10A3_HUMAN OR10A3 Olfactory receptor 10A3 314 35.5 11 Cell membrane 7 0 0 2 3 2001-06-20 P59544 T2R50_HUMAN TAS2R50 Taste receptor type 2 member 50 299 34.6 12 Membrane 7 0 0 2 3 2003-04-11 P61236 YPEL3_HUMAN YPEL3 Protein yippee-like 3 119 13.6 16 Nucleus 0 0 0 1 3 2004-05-10 P62502 LCN6_HUMAN LCN6 Epididymal-specific lipocalin-6 163 18 9 Secreted 0 0 0 1 3 2004-07-19 P63120 VPK19_HUMAN ERVK-19 Endogenous retrovirus group K member 19 Pro protein 156 17.1 0 0 0 3 3 2004-09-13 Q06250 WIT1_HUMAN WT1-AS Putative Wilms tumor upstream neighbor 1 gene protein 92 10 0 0 0 5 3 1995-11-01 Q0P6D2 DIK1C_HUMAN DIPK1C Divergent protein kinase domain 1C 419 46.4 18 Endoplasmic reticulum membrane 1 0 0 1 3 2007-05-15 Q0VAA5 PLCX2_HUMAN PLCXD2 PI-PLC X domain-containing protein 2 305 34.8 3 Nucleus 0 0 0 1 3 2007-10-02 Q0VDE8 ADIG_HUMAN ADIG Adipogenin 80 9.5 20 Endoplasmic reticulum membrane 1 0 0 3 3 2007-07-24 Q13046 PSG7_HUMAN PSG7 Pregnancy-specific beta-1-glycoprotein 7 419 47 19 Secreted 0 0 0 1 3 2000-05-30 Q15620 OR8B8_HUMAN OR8B8 Olfactory receptor 8B8 311 34.5 11 Cell membrane 7 0 0 2 3 2001-06-20 Q16589 CCNG2_HUMAN CCNG2 Cyclin-G2 344 38.9 4 Cytoplasm 0 0 0 1 3 2000-12-01 Q17RG1 KCD19_HUMAN KCTD19 BTB/POZ domain-containing protein KCTD19 926 104.9 16 Nucleus 0 0 0 1 3 2008-01-15 Q1ED39 KNOP1_HUMAN KNOP1 Lysine-rich nucleolar protein 1 458 51.6 16 Nucleus 0 0 0 1 3 2008-02-26 Q1KMD3 HNRL2_HUMAN HNRNPUL2 Heterogeneous nuclear ribonucleoprotein U-like protein 2 747 85.1 11 Nucleus 0 0 0 1 3 2007-02-20 Q2M2W7 CQ058_HUMAN C17orf58 UPF0450 protein C17orf58 339 37 17 0 0 0 1 3 2007-03-06 Q2M3V2 SWAHA_HUMAN SOWAHA Ankyrin repeat domain-containing protein SOWAHA 549 57.4 5 0 0 0 1 3 2006-06-27 Q2TAA2 IAH1_HUMAN IAH1 Isoamyl acetate-hydrolyzing esterase 1 homolog 248 27.6 2 3.1.-.- 0 0 0 1 3 2008-01-15 Q2VPJ9 LR75B_HUMAN LRRC75B Leucine-rich repeat-containing protein 75B 315 34.7 22 0 0 0 2 3 2006-10-31 Q2WGN9 GAB4_HUMAN GAB4 GRB2-associated-binding protein 4 574 62.4 22 0 0 0 2 3 2007-01-09 Q494X3 ZN404_HUMAN ZNF404 Zinc finger protein 404 552 65.4 19 Nucleus 0 0 0 1 3 2007-10-02 Q496H8 NRN1L_HUMAN NRN1L Neuritin-like protein 165 17.8 16 Cell membrane 0 0 0 1 3 2008-02-26 Q499Z3 SLNL1_HUMAN SLFNL1 Schlafen-like protein 1 407 45.6 1 0 0 0 1 3 2007-04-03 Q49A92 CH034_HUMAN C8orf34 Uncharacterized protein C8orf34 538 59.4 8 0 0 0 1 3 2008-04-29 Q53FE4 CD017_HUMAN C4orf17 Uncharacterized protein C4orf17 359 39.6 4 0 0 0 1 3 2005-08-30 Q58FF6 H90B4_HUMAN HSP90AB4P Putative heat shock protein HSP 90-beta 4 505 58.3 Cytoplasm 0 0 0 5 3 2008-09-02 Q5EBM4 ZN542_HUMAN ZNF542P Putative zinc finger protein 542 170 19.7 Nucleus 0 0 0 5 3 2006-05-16 Q5GH70 XKR9_HUMAN XKR9 XK-related protein 9 373 43.4 8 Cell membrane 8 0 0 1 3 2005-10-11 Q5H913 AR13A_HUMAN ARL13A ADP-ribosylation factor-like protein 13A 290 33 X 0 0 0 1 3 2007-04-17 Q5HY98 ZN766_HUMAN ZNF766 Zinc finger protein 766 468 54.5 19 Nucleus 0 0 0 1 3 2007-03-20 Q5HYK9 ZN667_HUMAN ZNF667 Zinc finger protein 667 610 70.2 19 Nucleus 0 0 0 1 3 2006-10-03 Q5JPF3 AN36C_HUMAN ANKRD36C Ankyrin repeat domain-containing protein 36C 1778 199.7 2 0 0 0 1 3 2008-05-20 Q5JPI3 CC038_HUMAN C3orf38 Uncharacterized protein C3orf38 329 37.5 3 0 0 0 1 3 2006-07-11 Q5JQS5 OR2BB_HUMAN OR2B11 Olfactory receptor 2B11 317 35.3 1 Cell membrane 7 0 0 2 3 2005-12-20 Q5JTD7 LRC73_HUMAN LRRC73 Leucine-rich repeat-containing protein 73 316 33.4 6 0 0 0 1 3 2006-10-03 Q5JU67 CF157_HUMAN CFAP157 Cilia- and flagella-associated protein 157 520 60.5 9 Cytoplasm 0 0 0 1 3 2007-10-23 Q5R387 PA2GC_HUMAN PLA2G2C Putative inactive group IIC secretory phospholipase A2 149 16.8 1 Secreted 0 0 0 3 3 2008-02-26 Q5SV17 TM240_HUMAN TMEM240 Transmembrane protein 240 173 19.9 1 Synapse; Cell membrane 2 1 Spinocerebellar ataxia 21 0 1 3 2008-06-10 Q5SZI1 LRAD2_HUMAN LDLRAD2 Low-density lipoprotein receptor class A domain-containing protein 2 272 28.6 1 Membrane 1 0 0 1 3 2007-09-11 Q5T4T1 T170B_HUMAN TMEM170B Transmembrane protein 170B 132 14.4 6 Cell membrane 3 0 0 1 3 2008-07-01 Q5T5D7 ZN684_HUMAN ZNF684 Zinc finger protein 684 378 43.9 1 Nucleus 0 0 0 1 3 2006-05-02 Q5T5S1 CC183_HUMAN CCDC183 Coiled-coil domain-containing protein 183 534 62.7 9 0 0 0 1 3 2007-07-10 Q5T764 IFT1B_HUMAN IFIT1B Protein IFIT1 homolog B 474 55 10 0 0 0 1 3 2007-05-01 Q5T7M9 DIK1A_HUMAN DIPK1A Divergent protein kinase domain 1A 428 49 1 Endoplasmic reticulum membrane 1 0 0 1 3 2007-04-03 Q5TFG8 ZC21B_HUMAN ZC2HC1B Zinc finger C2HC domain-containing protein 1B 222 24.7 6 0 0 0 1 3 2007-03-20 Q5TGI4 SAMD5_HUMAN SAMD5 Sterile alpha motif domain-containing protein 5 173 19.2 6 Cytoplasm 0 0 0 1 3 2007-11-13 Q5TGS1 HES3_HUMAN HES3 Transcription factor HES-3 186 20 1 Nucleus 0 0 0 3 3 2006-12-12 Q5TYX0 PRAM5_HUMAN PRAMEF5 PRAME family member 5 476 54.9 1 0 0 0 2 3 2005-12-20 Q5TZ20 OR2G6_HUMAN OR2G6 Olfactory receptor 2G6 316 34.9 1 Cell membrane 7 0 0 1 3 2005-12-20 Q5VUD6 DIK1B_HUMAN DIPK1B Divergent protein kinase domain 1B 431 48.6 9 Endoplasmic reticulum membrane 1 0 0 1 3 2007-05-15 Q5VUJ5 AGAP7_HUMAN AGAP7P Putative Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 7 663 73.2 0 0 0 5 3 2007-04-17 Q5W0A0 ERI6B_HUMAN ERICH6B Glutamate-rich protein 6B 696 81.7 13 0 0 0 1 3 2008-03-18 Q5XG99 LYSM4_HUMAN LYSMD4 LysM and putative peptidoglycan-binding domain-containing protein 4 296 32.1 15 Membrane 1 0 0 1 3 2006-09-05 Q5XKK7 F219B_HUMAN FAM219B Protein FAM219B 198 21.1 15 0 0 0 1 3 2006-06-27 Q5XKR9 VCF2_HUMAN VCF2 Protein VCF2 115 13.1 X 0 0 0 1 3 2006-05-30 Q63HM2 PCX4_HUMAN PCNX4 Pecanex-like protein 4 1172 132.7 14 Membrane 15 0 0 1 3 2006-10-17 Q63ZE4 S22AA_HUMAN SLC22A10 Solute carrier family 22 member 10 541 60.3 11 Membrane 11 0 0 1 3 2006-05-02 Q68DI1 ZN776_HUMAN ZNF776 Zinc finger protein 776 518 59.6 19 Nucleus 0 0 0 1 3 2007-10-02 Q68DY9 ZN772_HUMAN ZNF772 Zinc finger protein 772 489 55.4 19 Nucleus 0 0 0 1 3 2006-12-12 Q6AW86 Z324B_HUMAN ZNF324B Zinc finger protein 324B 544 60.6 19 Nucleus 0 0 0 1 3 2007-03-20 Q6ICH7 ASPH2_HUMAN ASPHD2 Aspartate beta-hydroxylase domain-containing protein 2 369 41.7 22 1.14.11.- Membrane 1 0 0 1 3 2006-10-31 Q6IEU7 OR5MA_HUMAN OR5M10 Olfactory receptor 5M10 315 35.6 11 Cell membrane 7 0 0 2 3 2005-12-20 Q6IFG1 O52E8_HUMAN OR52E8 Olfactory receptor 52E8 313 35.5 11 Membrane 7 0 0 2 3 2005-12-20 Q6IFN5 O7E24_HUMAN OR7E24 Olfactory receptor 7E24 339 38.3 19 Cell membrane 7 0 0 2 3 2007-03-20 Q6IPT2 GAR5A_HUMAN GARIN5A Golgi-associated RAB2 interactor protein 5A 247 27.6 19 Golgi apparatus 0 0 0 1 3 2008-05-20 Q6IQ21 ZN770_HUMAN ZNF770 Zinc finger protein 770 691 80 15 Nucleus 0 0 0 1 3 2007-03-20 Q6L8G5 KR510_HUMAN KRTAP5-10 Keratin-associated protein 5-10 202 18 11 0 0 0 1 3 2004-12-21 Q6NW29 RWDD4_HUMAN RWDD4 RWD domain-containing protein 4 188 21.3 4 0 0 0 1 3 2006-01-24 Q6NXP2 GAR1A_HUMAN GARIN1A Golgi-associated RAB2 interactor protein 1A 309 34.5 7 Golgi apparatus 0 0 0 1 3 2007-11-13 Q6NXT1 ANR54_HUMAN ANKRD54 Ankyrin repeat domain-containing protein 54 300 32.5 22 Nucleus; Cytoplasm; Midbody 0 0 0 1 3 2007-02-06 Q6P6B1 ERIC5_HUMAN ERICH5 Glutamate-rich protein 5 374 39.9 8 0 0 0 1 3 2007-07-10 Q6PF15 KLH35_HUMAN KLHL35 Kelch-like protein 35 583 62.9 11 0 0 0 1 3 2008-07-22 Q6PH81 CP087_HUMAN C16orf87 UPF0547 protein C16orf87 154 17.8 16 0 0 0 1 3 2008-04-08 Q6PJE2 POZP3_HUMAN POMZP3 POM121 and ZP3 fusion protein 187 20.6 7 0 0 0 1 3 2004-08-16 Q6PK04 CC137_HUMAN CCDC137 Coiled-coil domain-containing protein 137 289 33.2 17 Chromosome 0 0 0 1 3 2007-05-29 Q6TFL3 CC171_HUMAN CCDC171 Coiled-coil domain-containing protein 171 1326 152.8 9 0 0 0 1 3 2005-08-02 Q6UE05 TM270_HUMAN TMEM270 Transmembrane protein 270 265 29.4 7 Membrane 3 0 0 1 3 2007-10-23 Q6UW02 CP20A_HUMAN CYP20A1 Cytochrome P450 20A1 462 52.4 2 1.14.-.- Membrane 1 0 0 1 3 2008-02-05 Q6UW49 SPESP_HUMAN SPESP1 Sperm equatorial segment protein 1 350 38.9 15 Cytoplasmic vesicle 0 0 0 1 3 2005-11-08 Q6UWE3 COLL2_HUMAN CLPSL2 Colipase-like protein 2 100 10.8 6 Secreted 0 0 0 1 3 2004-11-09 Q6UWI4 SHSA2_HUMAN SHISA2 Protein shisa-2 homolog 295 31.4 13 Endoplasmic reticulum membrane 1 0 0 1 3 2004-11-09 Q6UWQ5 LYZL1_HUMAN LYZL1 Lysozyme-like protein 1 148 16.7 10 3.2.1.17 Secreted 0 0 0 1 3 2006-06-27 Q6UWX4 HIPL2_HUMAN HHIPL2 HHIP-like protein 2 724 80.8 1 Secreted 0 0 0 1 3 2008-01-15 Q6UXB1 IGFL3_HUMAN IGFL3 Insulin growth factor-like family member 3 125 14.2 19 Secreted 0 0 0 1 3 2005-12-20 Q6UXV1 IZUM2_HUMAN IZUMO2 Izumo sperm-egg fusion protein 2 221 24.9 19 Membrane 1 0 0 1 3 2007-07-24 Q6UY01 LRC31_HUMAN LRRC31 Leucine-rich repeat-containing protein 31 552 61.5 3 0 0 0 1 3 2006-04-04 Q6ZMB5 T184A_HUMAN TMEM184A Transmembrane protein 184A 413 45.8 7 Cell membrane; Cytoplasm; Cytoplasmic vesicle membrane; Early endosome membrane; Endosome; Cytoplasmic vesicle 7 0 0 1 3 2007-09-11 Q6ZMV5 P4R3C_HUMAN PPP4R3C Protein PPP4R3C 832 95.8 X 0 0 0 1 3 2008-07-22 Q6ZMW2 ZN782_HUMAN ZNF782 Zinc finger protein 782 699 80.9 9 Nucleus 0 0 0 1 3 2006-12-12 Q6ZN06 ZN813_HUMAN ZNF813 Zinc finger protein 813 617 71.7 19 Nucleus 0 0 0 1 3 2007-07-10 Q6ZN68 D19P2_HUMAN DPY19L2P2 Putative C-mannosyltransferase DPY19L2P2 376 43.1 2.4.1.- Membrane 6 0 0 5 3 2008-04-29 Q6ZNM6 SMI10_HUMAN SPMIP10 Sperm-associated microtubule inner protein 10 134 15.5 5 Cytoplasm 0 0 0 1 3 2008-02-26 Q6ZQV5 ZN788_HUMAN ZNF788P Putative KRAB domain-containing protein ZNF788 82 9.6 0 0 0 5 3 2007-07-10 Q6ZRR5 TLCD5_HUMAN TLCD5 TLC domain-containing protein 5 245 27.9 11 Membrane 6 0 0 2 3 2007-05-01 Q6ZS30 NBEL1_HUMAN NBEAL1 Neurobeachin-like protein 1 2694 307.2 2 0 0 0 1 3 2006-01-24 Q6ZSS3 ZN621_HUMAN ZNF621 Zinc finger protein 621 439 49.2 3 Nucleus 0 0 0 1 3 2005-11-08 Q6ZV89 SH2D5_HUMAN SH2D5 SH2 domain-containing protein 5 423 46.8 1 Postsynaptic density 0 0 0 1 3 2006-04-04 Q6ZVT6 CF20D_HUMAN CFAP20DC Protein CFAP20DC 689 76.3 3 0 0 0 1 3 2008-02-05 Q6ZWE6 PKHM3_HUMAN PLEKHM3 Pleckstrin homology domain-containing family M member 3 761 87.2 2 Cytoplasm; Golgi apparatus; Cell membrane 0 0 0 1 3 2008-03-18 Q719I0 AHSA2_HUMAN AHSA2P Putative activator of 90 kDa heat shock protein ATPase homolog 2 299 33.8 0 0 0 5 3 2008-01-15 Q71RC9 SMIM5_HUMAN SMIM5 Small integral membrane protein 5 77 8.5 17 Membrane 1 0 0 1 3 2011-06-28 Q75VX8 GARE2_HUMAN GAREM2 GRB2-associated and regulator of MAPK protein 2 874 92.9 2 0 0 0 1 3 2008-06-10 Q76KX8 ZN534_HUMAN ZNF534 Zinc finger protein 534 674 77.2 19 Nucleus 0 0 0 1 3 2010-05-18 Q7RTT3 SSX9_HUMAN SSX9P Putative protein SSX9 188 21.6 0 0 0 5 3 2006-03-21 Q7RTT4 SSX8_HUMAN SSX8P Putative protein SSX8 187 21.9 0 0 0 5 3 2006-03-21 Q7RTT5 SSX7_HUMAN SSX7 Protein SSX7 188 21.6 X 0 0 0 1 3 2006-03-21 Q7RTX9 MOT14_HUMAN SLC16A14 Monocarboxylate transporter 14 510 56.3 2 Cell membrane 12 0 0 1 3 2007-05-29 Q7Z4H9 F220A_HUMAN FAM220A Protein FAM220A 259 28 7 Nucleus; Cytoplasm; Cytoplasmic vesicle 0 0 0 1 3 2008-02-26 Q7Z4S9 SH2D6_HUMAN SH2D6 SH2 domain-containing protein 6 335 36.3 2 0 0 0 1 3 2007-10-23 Q7Z4W2 LYZL2_HUMAN LYZL2 Lysozyme-like protein 2 148 16.7 10 3.2.1.17 Secreted 0 0 0 1 3 2006-06-27 Q7Z4Y8 AT5L2_HUMAN ATP5MGL ATP synthase subunit g 2, mitochondrial 100 11 22 Mitochondrion membrane 0 0 0 1 3 2006-03-07 Q7Z5A8 TAFA3_HUMAN TAFA3 Chemokine-like protein TAFA-3 133 14.8 1 Secreted 0 0 0 1 3 2005-11-08 Q7Z7B8 DB128_HUMAN DEFB128 Beta-defensin 128 93 10.7 20 Secreted 0 0 0 1 3 2005-03-15 Q86SM5 MRGRG_HUMAN MRGPRG Mas-related G protein-coupled receptor member G 289 31.5 11 Cell membrane 7 0 0 2 3 2004-08-31 Q86T20 SIM29_HUMAN SMIM29 Small integral membrane protein 29 102 11.6 6 Membrane 1 0 0 1 3 2005-08-02 Q86T29 ZN605_HUMAN ZNF605 Zinc finger protein 605 641 74.4 12 Nucleus 0 0 0 1 3 2006-05-16 Q86WT1 IT70A_HUMAN IFT70A Intraflagellar transport protein 70A 665 76.1 2 Cell projection 0 0 0 1 3 2008-05-20 Q86WZ6 ZN227_HUMAN ZNF227 Zinc finger protein 227 799 92 19 Nucleus 0 0 0 1 3 2004-11-23 Q86XA9 HTR5A_HUMAN HEATR5A HEAT repeat-containing protein 5A 2040 222 14 0 0 0 1 3 2007-12-04 Q86XG9 NBPF5_HUMAN NBPF5P Putative NBPF family member NBPF5 351 40.5 Cytoplasm 0 0 0 5 3 2007-05-29 Q86XS5 ANGL5_HUMAN ANGPTL5 Angiopoietin-related protein 5 388 44.1 11 Secreted 0 0 0 1 3 2005-05-10 Q8IUB2 WFDC3_HUMAN WFDC3 WAP four-disulfide core domain protein 3 231 24.7 20 Secreted 0 0 0 1 3 2003-06-27 Q8IUF1 ZNG1B_HUMAN ZNG1B Zinc-regulated GTPase metalloprotein activator 1B 395 44 2 3.6.5.- Nucleus 0 0 0 1 3 2008-02-05 Q8IUL8 CILP2_HUMAN CILP2 Cartilage intermediate layer protein 2 1156 126.3 19 Secreted 0 0 0 1 3 2005-07-05 Q8IV38 ANKY2_HUMAN ANKMY2 Ankyrin repeat and MYND domain-containing protein 2 441 49.3 7 Cell projection 0 0 0 1 3 2006-07-25 Q8IVC4 ZN584_HUMAN ZNF584 Zinc finger protein 584 421 48.3 19 Nucleus 0 0 0 1 3 2004-11-23 Q8IVN3 MSTN1_HUMAN MUSTN1 Musculoskeletal embryonic nuclear protein 1 82 8.9 3 Nucleus; Cytoplasm; Secreted 0 0 0 1 3 2007-09-11 Q8IXQ4 GPAM1_HUMAN GPALPP1 GPALPP motifs-containing protein 1 340 38.1 13 0 0 0 1 3 2007-07-10 Q8IYL3 CA174_HUMAN C1orf174 UPF0688 protein C1orf174 243 26 1 Nucleus 0 0 0 1 3 2007-07-10 Q8IYM0 F186B_HUMAN FAM186B Protein FAM186B 893 103.7 12 0 0 0 1 3 2006-10-03 Q8IYN0 ZN100_HUMAN ZNF100 Zinc finger protein 100 542 62.7 19 Nucleus 0 0 0 1 3 2004-11-23 Q8IYP2 PRS58_HUMAN PRSS58 Serine protease 58 241 27.1 7 3.4.21.4 Secreted 0 0 0 1 3 2008-02-05 Q8IYS2 K2013_HUMAN KIAA2013 Uncharacterized protein KIAA2013 634 69.2 1 Membrane 1 0 0 1 3 2007-07-10 Q8IZM8 ZN654_HUMAN ZNF654 Zinc finger protein 654 1128 127.9 3 Nucleus 0 0 0 1 3 2007-12-04 Q8IZP7 H6ST3_HUMAN HS6ST3 Heparan-sulfate 6-O-sulfotransferase 3 471 54.8 13 2.8.2.- Membrane 1 0 0 1 3 2005-10-11 Q8N0U7 CA087_HUMAN C1orf87 Uncharacterized protein C1orf87 546 62 1 Cell projection; Cytoplasm 0 0 0 1 3 2007-04-17 Q8N146 OR8H3_HUMAN OR8H3 Olfactory receptor 8H3 312 35.2 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8N2I2 ZN619_HUMAN ZNF619 Zinc finger protein 619 560 63.3 3 Nucleus 0 0 0 1 3 2006-05-16 Q8N336 ELMD1_HUMAN ELMOD1 ELMO domain-containing protein 1 334 39.1 11 0 0 0 1 3 2006-03-07 Q8N349 OR2LD_HUMAN OR2L13 Olfactory receptor 2L13 312 35.6 1 Cell membrane 7 0 0 2 3 2003-11-14 Q8N3F9 G137C_HUMAN GPR137C Integral membrane protein GPR137C 429 47.1 14 Lysosome membrane 7 0 0 1 3 2007-09-11 Q8N567 ZCHC9_HUMAN ZCCHC9 Zinc finger CCHC domain-containing protein 9 271 30.5 5 Nucleus 0 0 0 1 3 2004-05-10 Q8N5T2 TBC19_HUMAN TBC1D19 TBC1 domain family member 19 526 60.2 4 0 0 0 1 3 2005-02-15 Q8N5X7 IF4E3_HUMAN EIF4E3 Eukaryotic translation initiation factor 4E type 3 224 24.4 3 0 0 0 1 3 2007-07-24 Q8N782 ZN525_HUMAN ZNF525 Zinc finger protein 525 479 56 19 Nucleus 0 0 0 1 3 2005-12-06 Q8N7M0 DYLT5_HUMAN DYNLT5 Dynein light chain Tctex-type 5 179 20.7 1 0 0 0 1 3 2007-05-01 Q8N7P3 CLD22_HUMAN CLDN22 Claudin-22 220 24.5 4 Cell junction; Cell membrane 4 0 0 1 3 2003-11-14 Q8N7X2 STPG3_HUMAN STPG3 Protein STPG3 386 42.5 9 0 0 0 1 3 2008-03-18 Q8N878 FRMD1_HUMAN FRMD1 FERM domain-containing protein 1 549 62.5 6 0 0 0 1 3 2006-07-25 Q8N944 AMER3_HUMAN AMER3 APC membrane recruitment protein 3 861 90.4 2 Cell membrane 0 0 0 1 3 2008-02-26 Q8N961 ABTB2_HUMAN ABTB2 Ankyrin repeat and BTB/POZ domain-containing protein 2 1025 113.7 11 0 0 0 1 3 2005-02-01 Q8N9Z0 ZN610_HUMAN ZNF610 Zinc finger protein 610 462 53.5 19 Nucleus 0 0 0 1 3 2006-05-16 Q8NBP5 S67A2_HUMAN SLC67A2 Solute carrier family 67 member A2 474 50.6 2 Membrane 9 0 0 1 3 2007-10-02 Q8NCL8 TM116_HUMAN TMEM116 Transmembrane protein 116 245 27.5 12 Endoplasmic reticulum membrane 3 0 0 1 3 2006-10-03 Q8NDB6 FA156_HUMAN FAM156A Protein FAM156A/FAM156B 213 24.4 X Membrane 1 0 0 1 3 2006-06-27 Q8NDW4 ZN248_HUMAN ZNF248 Zinc finger protein 248 579 67.1 10 Nucleus 0 0 0 1 3 2004-05-24 Q8NEA5 CS018_HUMAN C19orf18 Uncharacterized protein C19orf18 215 24.2 19 Membrane 1 0 0 1 3 2005-07-19 Q8NEW7 TMIE_HUMAN TMIE Transmembrane inner ear expressed protein 156 17.2 3 Membrane 1 1 Deafness, autosomal recessive, 6 0 1 3 2005-03-29 Q8NFQ5 BPIB6_HUMAN BPIFB6 BPI fold-containing family B member 6 453 49.7 20 Secreted 0 0 0 1 3 2003-08-29 Q8NFZ6 VN1R2_HUMAN VN1R2 Vomeronasal type-1 receptor 2 395 44.5 19 Cell membrane 8 0 0 2 3 2005-07-05 Q8NG35 D105A_HUMAN DEFB105A Beta-defensin 105 78 8.9 8 Secreted 0 0 0 1 3 2003-09-26 Q8NG80 OR2L5_HUMAN OR2L5 Olfactory receptor 2L5 312 35.6 1 Cell membrane 7 0 0 3 3 2003-11-14 Q8NG84 O2AK2_HUMAN OR2AK2 Olfactory receptor 2AK2 335 37.8 Cell membrane 7 0 0 2 3 2003-11-14 Q8NG85 OR2L3_HUMAN OR2L3 Olfactory receptor 2L3 312 35.3 1 Cell membrane 7 0 0 2 3 2005-12-20 Q8NGA6 O10H5_HUMAN OR10H5 Olfactory receptor 10H5 315 34.9 19 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGB4 OR4S1_HUMAN OR4S1 Olfactory receptor 4S1 309 34.8 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGB8 O4F15_HUMAN OR4F15 Olfactory receptor 4F15 312 35.4 15 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGC3 O10G2_HUMAN OR10G2 Olfactory receptor 10G2 310 34.3 14 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGC9 O11H4_HUMAN OR11H4 Olfactory receptor 11H4 324 36.9 14 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGD2 OR4K2_HUMAN OR4K2 Olfactory receptor 4K2 314 35.4 14 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGD4 OR4K1_HUMAN OR4K1 Olfactory receptor 4K1 311 35.2 14 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGF1 O52R1_HUMAN OR52R1 Olfactory receptor 52R1 315 34.9 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGF4 O5AP2_HUMAN OR5AP2 Olfactory receptor 5AP2 316 35.5 11 Cell membrane 7 0 0 2 3 2003-09-26 Q8NGF6 O10W1_HUMAN OR10W1 Olfactory receptor 10W1 305 33.4 11 Cell membrane 7 0 0 2 3 2004-08-16 Q8NGF7 OR5BH_HUMAN OR5B17 Olfactory receptor 5B17 314 35.1 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGH6 O52L2_HUMAN OR52L2P Putative olfactory receptor 52L2 319 35.2 Cell membrane 7 0 0 5 3 2003-10-10 Q8NGH8 O56A4_HUMAN OR56A4 Olfactory receptor 56A4 313 35.1 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGI0 O52N2_HUMAN OR52N2 Olfactory receptor 52N2 321 35.9 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGJ1 OR4D6_HUMAN OR4D6 Olfactory receptor 4D6 314 36 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGL0 OR5L2_HUMAN OR5L2 Olfactory receptor 5L2 311 34.7 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGL2 OR5L1_HUMAN OR5L1 Olfactory receptor 5L1 311 34.6 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGL3 OR5DE_HUMAN OR5D14 Olfactory receptor 5D14 314 35.8 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGN1 OR6T1_HUMAN OR6T1 Olfactory receptor 6T1 323 36.3 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGP4 OR5M3_HUMAN OR5M3 Olfactory receptor 5M3 307 35.2 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGQ6 OR9I1_HUMAN OR9I1 Olfactory receptor 9I1 314 34.9 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGR1 O13A1_HUMAN OR13A1 Olfactory receptor 13A1 328 36.5 10 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGX0 O11L1_HUMAN OR11L1 Olfactory receptor 11L1 322 36.8 1 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGX2 O2T35_HUMAN OR2T35 Olfactory receptor 2T35 323 36.1 1 Cell membrane 7 0 0 3 3 2003-10-31 Q8NGX6 O10R2_HUMAN OR10R2 Olfactory receptor 10R2 335 37.5 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGY2 OR6K2_HUMAN OR6K2 Olfactory receptor 6K2 324 36.5 1 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGY9 OR2L8_HUMAN OR2L8 Olfactory receptor 2L8 312 35.4 1 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGZ0 O2AJ1_HUMAN OR2AJ1 Olfactory receptor 2AJ1 328 37.1 1 Cell membrane 7 0 0 3 3 2005-12-20 Q8NGZ3 O13G1_HUMAN OR13G1 Olfactory receptor 13G1 307 34.7 1 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH50 OR8K5_HUMAN OR8K5 Olfactory receptor 8K5 307 35.2 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH79 OR6X1_HUMAN OR6X1 Olfactory receptor 6X1 312 34.7 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH89 O5AK3_HUMAN OR5AK3P Olfactory receptor 5AK3 298 33.5 Cell membrane 7 0 0 3 3 2003-10-10 Q8NHA6 OR2W6_HUMAN OR2W6P Putative olfactory receptor 2W6 318 35.3 Cell membrane 7 0 0 5 3 2008-07-01 Q8NHA8 OR1FC_HUMAN OR1F12P Putative olfactory receptor 1F12P 337 36.9 Cell membrane 7 0 0 5 3 2003-10-10 Q8NHB7 OR5K1_HUMAN OR5K1 Olfactory receptor 5K1 308 35.2 3 Cell membrane 7 0 0 2 3 2003-10-10 Q8NHY5 HUS1B_HUMAN HUS1B Checkpoint protein HUS1B 278 31 6 0 0 0 1 3 2006-03-07 Q8TB69 ZN519_HUMAN ZNF519 Zinc finger protein 519 540 63 18 Nucleus 0 0 0 1 3 2004-05-24 Q8TC99 FNDC8_HUMAN FNDC8 Fibronectin type III domain-containing protein 8 324 35.9 17 0 0 0 1 3 2007-04-17 Q8TCB0 IFI44_HUMAN IFI44 Interferon-induced protein 44 444 50.5 1 Cytoplasm 0 0 0 1 3 2004-06-07 Q8TF27 AGA11_HUMAN AGAP11 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 11 550 60.5 0 0 0 2 3 2008-04-08 Q8WU76 SCFD2_HUMAN SCFD2 Sec1 family domain-containing protein 2 684 75.1 4 0 0 0 1 3 2004-07-05 Q8WUH6 TM263_HUMAN TMEM263 Transmembrane protein 263 116 11.7 12 Membrane 2 0 0 1 3 2006-12-12 Q8WXJ9 ASB17_HUMAN ASB17 Ankyrin repeat and SOCS box protein 17 295 34.3 1 0 0 0 1 3 2002-05-10 Q8WXT5 FX4L4_HUMAN FOXD4L4 Forkhead box protein D4-like 4 416 45.9 9 Nucleus 0 0 0 1 3 2003-01-27 Q8WZ71 TM158_HUMAN TMEM158 Transmembrane protein 158 300 30.4 3 Membrane 2 0 0 1 3 2007-05-01 Q96C90 PP14B_HUMAN PPP1R14B Protein phosphatase 1 regulatory subunit 14B 147 15.9 11 Cytoplasm 0 0 0 1 3 2004-11-09 Q96DC7 TMCO6_HUMAN TMCO6 Transmembrane and coiled-coil domain-containing protein 6 493 54.4 5 Membrane 2 0 0 1 3 2007-10-02 Q96DL1 NXPE2_HUMAN NXPE2 NXPE family member 2 559 64.9 11 Membrane 1 0 0 1 3 2007-08-21 Q96EH5 RL39L_HUMAN RPL39L Ribosomal protein eL39-like 2 51 6.3 3 Cytoplasm 0 0 0 1 3 2003-03-28 Q96GU1 PAGE5_HUMAN PAGE5 P antigen family member 5 130 14 X 0 0 0 1 3 2006-07-25 Q96HA4 CA159_HUMAN C1orf159 Uncharacterized protein C1orf159 380 40.3 1 Membrane 1 0 0 1 3 2006-10-31 Q96JM4 LRIQ1_HUMAN LRRIQ1 Leucine-rich repeat- and IQ domain-containing protein 1 1722 199.3 12 0 0 0 1 3 2008-01-15 Q96K37 S35E1_HUMAN SLC35E1 Solute carrier family 35 member E1 410 44.8 19 Membrane 9 0 0 1 3 2004-04-26 Q96K62 ZBT45_HUMAN ZBTB45 Zinc finger and BTB domain-containing protein 45 511 54 19 Nucleus 0 0 0 1 3 2004-03-15 Q96KC9 CABS1_HUMAN CABS1 Calcium-binding and spermatid-specific protein 1 395 43 4 Cytoplasm; Mitochondrion inner membrane; Cell projection; Cytoplasmic vesicle 0 0 0 1 3 2008-06-10 Q96KD3 GAR1B_HUMAN GARIN1B Golgi-associated RAB2 interactor protein 1B 344 38.9 7 Golgi apparatus 0 0 0 1 3 2007-12-04 Q96KJ4 MSLNL_HUMAN MSLNL Mesothelin-like protein 702 74.5 16 Membrane 1 0 0 3 3 2008-02-26 Q96M34 TEX55_HUMAN TEX55 Testis-specific expressed protein 55 536 60.2 3 Nucleus; Cell projection 0 0 0 1 3 2006-10-31 Q96MC5 MERB1_HUMAN BMERB1 bMERB domain-containing protein 1 204 23.7 16 0 0 0 1 3 2005-07-05 Q96MC6 S71A1_HUMAN SLC71A1 Solute carrier family 71 member 1 490 53 1 Membrane 12 0 0 1 3 2004-10-11 Q96MN5 TEAN2_HUMAN TCEANC2 Transcription elongation factor A N-terminal and central domain-containing protein 2 208 24.2 1 Nucleus 0 0 0 1 3 2007-05-15 Q96N22 ZN681_HUMAN ZNF681 Zinc finger protein 681 645 75.1 19 Nucleus 0 0 0 1 3 2007-10-02 Q96NG8 ZN582_HUMAN ZNF582 Zinc finger protein 582 517 60.5 19 Nucleus 0 0 0 1 3 2006-05-16 Q96PX6 CC85A_HUMAN CCDC85A Coiled-coil domain-containing protein 85A 553 60 2 Cell junction 0 0 0 1 3 2007-01-09 Q96QD5 DEPD7_HUMAN DEPDC7 DEP domain-containing protein 7 511 58.3 11 0 0 0 1 3 2007-10-23 Q96R08 OR5BC_HUMAN OR5B12 Olfactory receptor 5B12 314 35.2 11 Cell membrane 7 0 0 2 3 2002-05-10 Q96R54 O14A2_HUMAN OR14A2 Olfactory receptor 14A2 314 34.8 1 Cell membrane 7 0 0 3 3 2008-07-22 Q96RB7 OR5MB_HUMAN OR5M11 Olfactory receptor 5M11 305 34.5 11 Cell membrane 7 0 0 2 3 2003-10-10 Q96RD2 O52B2_HUMAN OR52B2 Olfactory receptor 52B2 323 36.2 11 Cell membrane 7 0 0 2 3 2002-05-10 Q96S86 HPLN3_HUMAN HAPLN3 Hyaluronan and proteoglycan link protein 3 360 40.9 15 Secreted 0 0 0 1 3 2004-05-24 Q96S95 CK2N2_HUMAN CAMK2N2 Calcium/calmodulin-dependent protein kinase II inhibitor 2 79 8.7 3 Nucleus; Cytoplasm; Synapse 0 0 0 1 3 2008-04-08 Q96SF2 TCPQM_HUMAN CCT8L2 T-complex protein 1 subunit theta-like 2 557 59.4 22 Cytoplasm 0 0 0 1 3 2008-09-02 Q96T25 ZIC5_HUMAN ZIC5 Zinc finger protein ZIC 5 639 65.8 13 Nucleus 0 0 0 1 3 2003-04-23 Q96T92 INSM2_HUMAN INSM2 Insulinoma-associated protein 2 566 59.5 14 Cytoplasm; Nucleus 0 0 0 1 3 2008-04-29 Q9BQ75 CMS1_HUMAN CMSS1 Protein CMSS1 279 31.9 3 0 0 0 1 3 2006-05-30 Q9BRH9 ZN251_HUMAN ZNF251 Zinc finger protein 251 671 75.8 8 Nucleus 0 0 0 1 3 2004-05-24 Q9BRP7 FDXA1_HUMAN FDXACB1 Ferredoxin-fold anticodon-binding domain-containing protein 1 624 70.4 11 0 0 0 1 3 2008-03-18 Q9BTV7 CABL2_HUMAN CABLES2 CDK5 and ABL1 enzyme substrate 2 478 52.2 20 0 0 0 1 3 2003-02-12 Q9BV97 ZN747_HUMAN ZNF747 Zinc finger protein 747 330 36.4 16 0 0 0 1 3 2007-07-10 Q9BVM2 DPCD_HUMAN DPCD Protein DPCD 203 23.2 10 0 0 0 1 3 2008-03-18 Q9BWT6 MND1_HUMAN MND1 Meiotic nuclear division protein 1 homolog 205 23.8 4 Nucleus 0 0 0 1 3 2008-02-05 Q9BX69 CARD6_HUMAN CARD6 Caspase recruitment domain-containing protein 6 1037 116.5 5 0 0 0 1 3 2002-05-02 Q9BXU8 FHL17_HUMAN FTHL17 Ferritin heavy polypeptide-like 17 183 21.1 X 0 0 0 1 3 2001-09-26 Q9BXY5 CAYP2_HUMAN CAPS2 Calcyphosin-2 538 61.7 12 0 0 0 1 3 2003-08-29 Q9H1H1 GTSFL_HUMAN GTSF1L Gametocyte-specific factor 1-like 148 16.9 20 0 0 0 1 3 2003-01-10 Q9H2T7 RBP17_HUMAN RANBP17 Ran-binding protein 17 1088 124.4 5 Cytoplasm; Nucleus 0 0 0 1 3 2001-11-02 Q9H3Y0 CRSPL_HUMAN R3HDML Peptidase inhibitor R3HDML 253 28.6 20 Secreted 0 0 0 1 3 2007-05-15 Q9H6B1 Z385D_HUMAN ZNF385D Zinc finger protein 385D 395 42.3 3 Nucleus 0 0 0 1 3 2005-11-08 Q9H841 NPAL2_HUMAN NIPAL2 NIPA-like protein 2 383 42.2 8 Membrane 9 0 0 1 3 2006-06-27 Q9H853 TBA4B_HUMAN TUBA4B Tubulin-like protein alpha-4B 241 27.6 2 3.6.5.- Cytoplasm 0 0 0 1 3 2008-04-29 Q9H857 NT5D2_HUMAN NT5DC2 5'-nucleotidase domain-containing protein 2 520 60.7 3 3.1.3.- Cytoplasm 0 0 0 1 3 2006-07-25 Q9H972 CN093_HUMAN C14orf93 Uncharacterized protein C14orf93 538 58.7 14 Secreted 0 0 0 1 3 2003-07-25 Q9HBL7 PLRKT_HUMAN PLGRKT Plasminogen receptor (KT) 147 17.2 9 Cell membrane 2 0 0 1 3 2005-07-05 Q9HCS5 E41LA_HUMAN EPB41L4A Band 4.1-like protein 4A 686 79.1 5 Cytoplasm 0 0 0 1 3 2001-07-11 Q9HDB8 ENK5_HUMAN ERVK-5 Endogenous retrovirus group K member 5 Env polyprotein 245 27.9 Virion 0 0 0 2 3 2004-05-24 Q9NS85 CAH10_HUMAN CA10 Carbonic anhydrase-related protein 10 328 37.6 17 0 0 0 1 3 2001-09-26 Q9NSJ1 Z355P_HUMAN ZNF355P Putative zinc finger protein 355P 428 49.7 Nucleus 0 0 0 5 3 2008-04-29 Q9NUG4 CCM2L_HUMAN CCM2L Cerebral cavernous malformations 2 protein-like 571 62.2 20 0 0 0 1 3 2003-06-20 Q9NVA4 T184C_HUMAN TMEM184C Transmembrane protein 184C 438 50.1 4 Membrane 7 0 0 1 3 2007-05-15 Q9NXD2 MTMRA_HUMAN MTMR10 Myotubularin-related protein 10 777 88.3 15 0 0 0 1 3 2007-04-17 Q9NZP2 OR6C2_HUMAN OR6C2 Olfactory receptor 6C2 312 35.2 12 Cell membrane 7 0 0 3 3 2003-10-10 Q9P2Z0 THA10_HUMAN THAP10 THAP domain-containing protein 10 257 28.4 15 0 0 0 1 3 2004-01-16 Q9UC06 ZNF70_HUMAN ZNF70 Zinc finger protein 70 446 50.8 22 Nucleus 0 0 0 1 3 2002-03-27 Q9UFN0 NPS3A_HUMAN NIPSNAP3A Protein NipSnap homolog 3A 247 28.5 9 Cytoplasm 0 0 0 1 3 2001-09-26 Q9UH36 SRR1L_HUMAN SRRD SRR1-like protein 339 38.6 22 Cytoplasm 0 0 0 1 3 2003-05-30 Q9UJ72 ANX10_HUMAN ANXA10 Annexin A10 324 37.3 4 0 0 0 1 3 2001-02-21 Q9UJH8 METRN_HUMAN METRN Meteorin 293 31.2 16 Secreted 0 0 0 1 3 2004-07-19 Q9UL59 ZN214_HUMAN ZNF214 Zinc finger protein 214 606 71 11 Nucleus 0 0 0 1 3 2000-12-01 Q9ULM0 PKHH1_HUMAN PLEKHH1 Pleckstrin homology domain-containing family H member 1 1364 151.2 14 0 0 0 1 3 2007-11-13 Q9UMS5 PHTF1_HUMAN PHTF1 Protein PHTF1 762 87.3 1 Endoplasmic reticulum membrane; Golgi apparatus 8 0 0 1 3 2002-09-19 Q9UND3 NPIA1_HUMAN NPIPA1 Nuclear pore complex-interacting protein family member A1 350 40.1 16 Nucleus; Nucleus membrane 0 0 0 2 3 2006-01-24 Q9UNX3 RL26L_HUMAN RPL26L1 Ribosomal protein uL24-like 145 17.3 5 0 0 0 1 3 2002-09-19 Q9Y2E4 DIP2C_HUMAN DIP2C Disco-interacting protein 2 homolog C 1556 170.8 10 0 0 0 1 3 2000-05-30 Q9Y4A0 JERKL_HUMAN JRKL Jerky protein homolog-like 524 59.9 11 Nucleus 0 0 0 1 3 2002-12-06 Q9Y536 PAL4A_HUMAN PPIAL4A Peptidyl-prolyl cis-trans isomerase A-like 4A 164 18.2 1 5.2.1.8 Cytoplasm 0 0 0 1 3 2008-03-18 A0A075B6H7 KV37_HUMAN IGKV3-7 Probable non-functional immunoglobulin kappa variable 3-7 116 12.8 2 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A075B6I4 LVX54_HUMAN IGLV10-54 Immunoglobulin lambda variable 10-54 117 12.4 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6N3 TVBX1_HUMAN TRBV24-1 T cell receptor beta variable 24-1 115 12.9 7 Cell membrane 0 0 0 1 3 2018-07-18 A0A075B6Q5 HV364_HUMAN IGHV3-64 Immunoglobulin heavy variable 3-64 118 12.9 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A075B6R2 HV404_HUMAN IGHV4-4 Immunoglobulin heavy variable 4-4 117 12.8 14 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6S5 KV127_HUMAN IGKV1-27 Immunoglobulin kappa variable 1-27 117 12.7 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6V5 TVA36_HUMAN TRAV36DV7 T cell receptor alpha variable 36/delta variable 7 113 12.7 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A087WSX0 LV545_HUMAN IGLV5-45 Immunoglobulin lambda variable 5-45 123 13.2 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A087WSZ0 KVD08_HUMAN IGKV1D-8 Immunoglobulin kappa variable 1D-8 117 12.8 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A087WT02 TVA92_HUMAN TRAV9-2 T cell receptor alpha variable 9-2 112 12.3 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A087WVF3 TBC3D_HUMAN TBC1D3D TBC1 domain family member 3D 549 62.2 17 Cell membrane 0 0 0 2 3 2015-01-07 A0A096LP55 QCR6L_HUMAN UQCRHL Cytochrome b-c1 complex subunit 6-like, mitochondrial 91 10.8 1 Mitochondrion inner membrane 0 0 0 1 3 2016-02-17 A0A0A0MS00 LV332_HUMAN IGLV3-32 Probable non-functional immunoglobulin lambda variable 3-32 114 12.4 22 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A0A0MS04 TVB67_HUMAN TRBV6-7 Probable non-functional T cell receptor beta variable 6-7 114 12.6 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A0A0MS05 TVB57_HUMAN TRBV5-7 Probable non-functional T cell receptor beta variable 5-7 114 12.4 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A0A6YYG2 TVB66_HUMAN TRBV6-6 T cell receptor beta variable 6-6 114 12.6 7 Cell membrane 0 0 0 3 3 2018-04-25 A0A0A6YYK7 TVA19_HUMAN TRAV19 T cell receptor alpha variable 19 116 13.2 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0B4J1V0 HV315_HUMAN IGHV3-15 Immunoglobulin heavy variable 3-15 119 12.9 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A0B4J1V2 HV226_HUMAN IGHV2-26 Immunoglobulin heavy variable 2-26 119 13.2 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A0B4J1X5 HV374_HUMAN IGHV3-74 Immunoglobulin heavy variable 3-74 117 12.8 14 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0B4J1X8 HV343_HUMAN IGHV3-43 Immunoglobulin heavy variable 3-43 118 13.1 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A0B4J234 TVA2_HUMAN TRAV2 T cell receptor alpha variable 2 112 12.5 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A0B4J263 TVA39_HUMAN TRAV39 T cell receptor alpha variable 39 110 12.5 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0B4J264 TV381_HUMAN TRAV38-1 T cell receptor alpha variable 38-1 116 13.3 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A0B4J275 TVA17_HUMAN TRAV17 T cell receptor alpha variable 17 112 12.5 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0C4DH26 KVD41_HUMAN IGKV6D-41 Probable non-functional immunoglobulin kappa variable 6D-41 115 12.6 2 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A0C4DH29 HV103_HUMAN IGHV1-3 Immunoglobulin heavy variable 1-3 117 13 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A0C4DH39 HV158_HUMAN IGHV1-58 Immunoglobulin heavy variable 1-58 117 13 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A0J9YX75 TVB69_HUMAN TRBV6-9 T cell receptor beta variable 6-9 114 12.5 Cell membrane 0 0 0 3 3 2018-04-25 A0A1B0GVD1 F237B_HUMAN FAM237B Protein FAM237B 139 16.3 7 Secreted 0 0 0 1 3 2019-06-05 A0A1W2PQ27 S72L1_HUMAN SSU72L1 RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 1 194 22.5 11 Nucleus 0 0 0 3 3 2023-02-22 A0A1W2PQ64 S72L5_HUMAN SSU72L5 RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 5 194 22.5 11 Nucleus 0 0 0 3 3 2023-02-22 A0A286YEU6 OR1R1_HUMAN OR1R1 Olfactory receptor 1R1 314 34 17 Membrane 7 0 0 3 3 2026-01-28 A0A2Z4LIS9 FXO3B_HUMAN FOXO3B Forkhead box protein O3B 290 29.9 17 Cytoplasm 0 0 0 1 3 2019-06-05 A0A3B3IU63 H2AL3_HUMAN H2AL3 Histone H2A-like 3 148 17.7 X Nucleus; Chromosome 0 0 0 1 3 2022-02-23 A0A455ZAR2 PNT87_HUMAN LINC-PINT Transcriptional regulator PINT87aa 87 9.6 Nucleus 0 0 0 1 3 2022-02-23 A0A539 TVB42_HUMAN TRBV4-2 T cell receptor beta variable 4-2 114 12.9 7 Cell membrane 0 0 0 1 3 2018-02-28 A0A576 TVB31_HUMAN TRBV3-1 T cell receptor beta variable 3-1 114 12.9 7 Cell membrane 0 0 0 1 3 2018-02-28 A0A5B7 TVB29_HUMAN TRBV29-1 T cell receptor beta variable 29-1 111 12.2 7 Cell membrane 0 0 0 3 3 2018-07-18 A0AUZ9 KAL1L_HUMAN KANSL1L KAT8 regulatory NSL complex subunit 1-like protein 987 112.3 2 0 0 0 1 3 2008-02-26 A0PJX4 SHSA3_HUMAN SHISA3 Protein shisa-3 homolog 238 25.8 4 Endoplasmic reticulum membrane 1 0 0 1 3 2008-04-29 A1A4V9 CF119_HUMAN CFAP119 Cilia- and flagella-associated protein 119 331 37.9 16 Cell projection; Cytoplasmic vesicle; Cytoplasm 0 0 0 1 3 2008-02-26 A1L168 CT202_HUMAN C20orf202 Uncharacterized protein C20orf202 99 11 20 0 0 0 1 3 2008-05-20 A2A3L6 TTC24_HUMAN TTC24 Tetratricopeptide repeat protein 24 582 63.4 1 0 0 0 1 3 2007-10-23 A2RRD8 ZN320_HUMAN ZNF320 Zinc finger protein 320 509 59.3 19 Nucleus 0 0 0 1 3 2007-09-11 A2RUU4 COLL1_HUMAN CLPSL1 Colipase-like protein 1 121 14.1 6 Secreted 0 0 0 1 3 2008-05-20 A3KFT3 OR2M5_HUMAN OR2M5 Olfactory receptor 2M5 312 35.1 1 Cell membrane 7 0 0 3 3 2007-07-10 A5PLN7 F149A_HUMAN FAM149A Protein FAM149A 773 82.7 4 0 0 0 1 3 2008-02-26 A6H8M9 CDHR4_HUMAN CDHR4 Cadherin-related family member 4 788 85.8 3 Membrane 1 0 0 1 3 2008-02-26 A6NDH6 O5H15_HUMAN OR5H15 Olfactory receptor 5H15 313 35.4 3 Cell membrane 7 0 0 3 3 2007-11-13 A6NDN3 GOG6B_HUMAN GOLGA6B Golgin subfamily A member 6B 693 79.9 15 0 0 0 1 3 2008-04-29 A6NFI3 ZN316_HUMAN ZNF316 Zinc finger protein 316 1004 108.4 7 Nucleus 0 0 0 1 3 2008-09-02 A6NGD5 ZSA5C_HUMAN ZSCAN5C Zinc finger and SCAN domain-containing protein 5C 496 55.7 19 Nucleus 0 0 0 3 3 2008-04-29 A6NGJ6 TRI64_HUMAN TRIM64 Tripartite motif-containing protein 64 449 51.6 11 0 0 0 2 3 2008-04-29 A6NH52 TV23A_HUMAN TVP23A Golgi apparatus membrane protein TVP23 homolog A 213 24.1 16 Membrane 4 0 0 1 3 2008-04-08 A6NHT5 HMX3_HUMAN HMX3 Homeobox protein HMX3 357 37.8 10 Nucleus 0 0 0 1 3 2008-06-10 A6NIJ9 O6C70_HUMAN OR6C70 Olfactory receptor 6C70 312 35.5 12 Cell membrane 7 0 0 3 3 2007-11-13 A6NIR3 AGAP5_HUMAN AGAP5 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 5 686 75.5 10 0 0 0 2 3 2008-09-02 A6NJL1 ZSA5B_HUMAN ZSCAN5B Zinc finger and SCAN domain-containing protein 5B 495 55.8 19 Nucleus 0 0 0 1 3 2008-04-29 A6NJZ7 RIM3C_HUMAN RIMBP3C RIMS-binding protein 3C 1639 181 22 Cytoplasm 0 0 0 1 3 2008-04-29 A6NK02 TRI75_HUMAN TRIM75 Tripartite motif-containing protein 75 468 53.7 4 Cytoplasm 0 0 0 1 3 2008-04-29 A6NK75 ZNF98_HUMAN ZNF98 Zinc finger protein 98 572 65.8 19 Nucleus 0 0 0 1 3 2008-02-05 A6NK97 S22AK_HUMAN SLC22A20P Solute carrier family 22 member 20 555 60.5 Membrane 11 0 0 2 3 2008-03-18 A6NL26 O5B21_HUMAN OR5B21 Olfactory receptor 5B21 309 34.2 11 Cell membrane 7 0 0 3 3 2007-11-13 A6NNM3 RIM3B_HUMAN RIMBP3B RIMS-binding protein 3B 1639 181 22 Cytoplasm 0 0 0 3 3 2008-04-29 A6NP61 ZAR1L_HUMAN ZAR1L Protein ZAR1-like 321 36 13 Cytoplasm 0 0 0 1 3 2008-04-29 A6PVL3 KNCN_HUMAN KNCN Kinocilin 124 12.8 1 Membrane 2 0 0 2 3 2007-11-13 A8MPS7 YDJC_HUMAN YDJC Carbohydrate deacetylase 323 34.5 22 3.5.1.- 0 0 0 1 3 2008-04-08 A8MTL9 HMSD_HUMAN HMSD Serpin-like protein HMSD 139 15.4 18 Secreted 0 0 0 2 3 2008-07-22 A8MYV0 DCD2C_HUMAN DCDC2C Doublecortin domain-containing protein 2C 364 41.6 2 Cell projection; Cytoplasm 0 0 0 1 3 2008-07-22 B9A6J9 TBC3L_HUMAN TBC1D3L TBC1 domain family member 3L 549 62.2 17 Cell membrane 0 0 0 2 3 2015-01-07 C9JCN9 HSBPL_HUMAN HSBP1L1 Heat shock factor-binding protein 1-like protein 1 74 8.4 18 0 0 0 1 3 2010-06-15 C9JLJ4 U17LD_HUMAN USP17L13 Ubiquitin carboxyl-terminal hydrolase 17-like protein 13 530 59.7 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 C9JUS6 ADM5_HUMAN ADM5 Putative adrenomedullin-5-like protein 153 16.5 19 Secreted 0 0 0 2 3 2010-03-23 D6RBQ6 U17LH_HUMAN USP17L17 Ubiquitin carboxyl-terminal hydrolase 17-like protein 17 530 59.6 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 D6RJB6 U17LK_HUMAN USP17L20 Ubiquitin carboxyl-terminal hydrolase 17-like protein 20 530 59.6 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 E7ETH6 Z587B_HUMAN ZNF587B Zinc finger protein 587B 402 45.5 19 Nucleus 0 0 0 1 3 2012-03-21 H3BQB6 STMD1_HUMAN STMND1 Stathmin domain-containing protein 1 276 31 6 0 0 0 1 3 2013-03-06 O00321 ETV2_HUMAN ETV2 ETS translocation variant 2 342 36.6 19 Nucleus 0 0 0 2 3 1998-07-15 O14562 UBFD1_HUMAN UBFD1 Ubiquitin domain-containing protein UBFD1 309 33.4 16 0 0 0 1 3 2007-04-03 O14604 TYB4Y_HUMAN TMSB4Y Thymosin beta-4, Y-chromosomal 44 5 Y Cytoplasm 0 0 0 1 3 1999-07-15 O14990 IPP2C_HUMAN PPP1R2C Protein phosphatase inhibitor 2 family member C 202 22.7 X 0 0 0 1 3 2004-08-16 O15050 TRNK1_HUMAN TRANK1 TPR and ankyrin repeat-containing protein 1 2925 336.2 3 0 0 0 1 3 2008-09-02 O43423 AN32C_HUMAN ANP32CP Putative uncharacterized protein ANP32CP 234 26.8 0 0 0 5 3 2002-12-06 O60290 ZN862_HUMAN ZNF862 Zinc finger protein 862 1169 131.7 7 Nucleus 0 1 Fibromatosis, gingival, 6 0 1 3 2008-02-26 O60518 RNBP6_HUMAN RANBP6 Ran-binding protein 6 1105 124.7 9 Cytoplasm; Nucleus 0 0 0 1 3 2004-07-19 O95170 CDRT1_HUMAN FBXW10B F-box and WD repeat domain containing protein 10B 752 85.4 17 0 0 0 2 3 2008-01-15 O95522 PRA12_HUMAN PRAMEF12 PRAME family member 12 483 54.6 1 0 0 0 3 3 2000-05-30 P0C091 FREM3_HUMAN FREM3 FRAS1-related extracellular matrix protein 3 2139 238.2 4 Secreted 0 0 0 1 3 2005-08-16 P0C7I0 U17L8_HUMAN USP17L8 Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8 530 59.6 8 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2008-04-29 P0C860 MS3L2_HUMAN MSL3B MSL complex subunit 3B 356 40.6 2 Nucleus 0 0 0 1 3 2008-09-02 P0CG01 GKN3_HUMAN GKN3P Gastrokine-3 181 20.2 Secreted 0 0 0 3 3 2010-06-15 P0CG34 TB15A_HUMAN TMSB15A Thymosin beta-15A 45 5.2 X Cytoplasm 0 0 0 1 3 2010-07-13 P0CJ72 HMN5_HUMAN MTRNR2L5 Humanin-like 5 24 2.7 10 Secreted; Cytoplasm 0 0 0 2 3 2011-02-08 P0CJ79 ZN888_HUMAN ZNF888 Zinc finger protein 888 718 83.5 19 Nucleus 0 0 0 1 3 2011-02-08 P0DJD0 RGPD1_HUMAN RGPD1 RANBP2-like and GRIP domain-containing protein 1 1748 196.7 2 0 0 0 2 3 2012-01-25 P0DOX2 IGA2_HUMAN Immunoglobulin alpha-2 heavy chain 455 48.9 Secreted; Cell membrane 0 0 0 1 3 2017-03-15 P0DP06 HVD34_HUMAN IGHV4-30-4 Immunoglobulin heavy variable 4-30-4 118 13.2 Secreted; Cell membrane 0 0 0 1 3 2017-04-12 P0DP08 HVD82_HUMAN IGHV4-38-2 Immunoglobulin heavy variable 4-38-2 117 13 Secreted; Cell membrane 0 0 0 1 3 2017-04-12 P0DP09 KV113_HUMAN IGKV1-13 Immunoglobulin kappa variable 1-13 117 12.6 2 Secreted; Cell membrane 0 0 0 3 3 2017-04-12 P0DPB5 RPC22_HUMAN POLR1D Protein POLR1D, isoform 2 122 14.3 13 0 0 0 1 3 2017-11-22 P0DTE2 HV511_HUMAN IGHV8-51-1 Probable non-functional immunoglobulin heavy variable 8-51-1 115 13.1 Secreted; Cell membrane 0 0 0 1 3 2020-08-12 P0DTW1 GAGE1_HUMAN GAGE1 G antigen 1 117 12.9 X 0 0 0 1 3 2020-08-12 P10075 GLI4_HUMAN GLI4 Zinc finger protein GLI4 376 41.1 8 Nucleus 0 0 0 1 3 1989-07-01 P16415 ZN823_HUMAN ZNF823 Zinc finger protein 823 610 70.3 19 Nucleus 0 0 0 1 3 1990-08-01 P47944 MT4_HUMAN MT4 Metallothionein-4 62 6.5 16 0 0 0 1 3 1996-02-01 P57723 PCBP4_HUMAN PCBP4 Poly(rC)-binding protein 4 403 41.5 3 Cytoplasm 0 0 0 1 3 2001-01-11 P58417 NXPH1_HUMAN NXPH1 Neurexophilin-1 271 31.1 7 Secreted 0 0 0 1 3 2001-12-05 P59536 T2R41_HUMAN TAS2R41 Taste receptor type 2 member 41 307 35.9 7 Membrane 7 0 0 1 3 2003-04-11 P62683 GAK21_HUMAN ERVK-21 Endogenous retrovirus group K member 21 Gag polyprotein 666 74 Cell membrane 0 0 0 1 3 2004-07-19 P63122 VPK8_HUMAN ERVK-8 Endogenous retrovirus group K member 8 Pro protein 156 17.2 0 0 0 3 3 2004-09-13 P63129 VPK24_HUMAN ERVK-24 Endogenous retrovirus group K member 24 Pro protein 156 17.1 0 0 0 3 3 2004-09-13 P82909 KGD4_HUMAN KGD4 Alpha-ketoglutarate dehydrogenase component 4 103 11.5 5 Mitochondrion 0 0 0 1 3 2004-02-02 Q09MP3 R51A2_HUMAN RAD51AP2 RAD51-associated protein 2 1159 133.9 2 0 0 0 1 3 2008-05-20 Q13069 GAGE5_HUMAN GAGE5 G antigen 5 117 12.9 0 0 0 1 3 1998-07-15 Q14390 GGTL2_HUMAN GGTLC2 Glutathione hydrolase light chain 2 218 23.7 22 0 0 0 1 3 2003-08-29 Q14507 EP3A_HUMAN EDDM3A Epididymal secretory protein E3-alpha 147 17.6 14 Secreted 0 0 0 1 3 2000-05-30 Q14588 ZN234_HUMAN ZNF234 Zinc finger protein 234 700 80.6 19 Nucleus 0 0 0 1 3 2000-12-01 Q147U1 ZN846_HUMAN ZNF846 Zinc finger protein 846 533 60.6 19 Nucleus 0 0 0 1 3 2008-04-29 Q14DG7 T132B_HUMAN TMEM132B Transmembrane protein 132B 1078 119.5 12 Membrane 1 0 0 1 3 2007-04-17 Q15622 OR7A5_HUMAN OR7A5 Olfactory receptor 7A5 319 35.6 19 Cell membrane 7 0 0 2 3 2001-06-20 Q16048 MCHL1_HUMAN PMCHL1 Putative pro-MCH-like protein 1 86 9.7 0 0 0 5 3 1999-07-15 Q16517 NNAT_HUMAN NNAT Neuronatin 81 9.2 20 0 0 0 1 3 1997-11-01 Q16559 TAL2_HUMAN TAL2 T-cell acute lymphocytic leukemia protein 2 108 12.3 9 0 0 0 1 3 2000-05-30 Q17R55 F187B_HUMAN FAM187B Protein FAM187B 369 42.4 19 Membrane 1 0 0 1 3 2007-04-17 Q2TV78 MST1L_HUMAN MST1L Putative macrophage stimulating 1-like protein 715 79.7 Secreted 0 0 0 1 3 2008-09-02 Q30KQ4 DB116_HUMAN DEFB116 Beta-defensin 116 102 11.5 20 Secreted 0 0 0 3 3 2005-12-20 Q30KQ5 DB115_HUMAN DEFB115 Beta-defensin 115 88 10.1 20 Secreted 0 0 0 1 3 2005-12-20 Q3B7T3 BEAN1_HUMAN BEAN1 Protein BEAN1 259 28.6 16 Membrane 1 1 Spinocerebellar ataxia 31 0 1 3 2008-02-26 Q3C1V8 BSH_HUMAN BSX Brain-specific homeobox protein homolog 233 25.9 11 Nucleus 0 0 0 1 3 2007-08-21 Q3KNW1 SNAI3_HUMAN SNAI3 Zinc finger protein SNAI3 292 32.5 16 Nucleus 0 0 0 1 3 2008-04-29 Q400G9 AMZ1_HUMAN AMZ1 Archaemetzincin-1 498 54.9 7 3.4.-.- 0 0 0 1 3 2006-01-10 Q49AR2 CE022_HUMAN C5orf22 UPF0489 protein C5orf22 442 50 5 0 0 0 1 3 2007-10-02 Q4G0S7 CC152_HUMAN CCDC152 Coiled-coil domain-containing protein 152 254 30 5 0 0 0 1 3 2008-02-26 Q4KMZ8 NKAI1_HUMAN NKAIN1 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 1 207 23.6 1 Cell membrane 3 0 0 1 3 2006-12-12 Q4VC39 HIG2B_HUMAN HIGD2B HIG1 domain family member 2B 106 11.4 15 Membrane 2 0 0 1 3 2008-07-22 Q52M58 CN177_HUMAN LINC02914 Testis-specific protein LINC02914 125 13.9 14 Cytoplasm; Nucleus; Cell projection 0 0 0 1 3 2007-02-06 Q53RY4 KCP3_HUMAN KRTCAP3 Keratinocyte-associated protein 3 240 25.6 2 Membrane 4 0 0 1 3 2006-03-07 Q58A44 PCOTH_HUMAN PCOTH Prostate collagen triple helix protein 107 11 Cytoplasm 0 0 0 1 3 2008-05-20 Q58FG0 HS905_HUMAN HSP90AA5P Putative heat shock protein HSP 90-alpha A5 334 38.7 Cytoplasm 0 0 0 1 3 2008-06-10 Q5BLP8 NICOL_HUMAN NICOL1 NELL2-interacting cell ontogeny regulator 1 95 10.2 4 Secreted; Cytoplasm 0 0 0 1 3 2008-07-01 Q5GH73 XKR6_HUMAN XKR6 XK-related protein 6 641 71.6 8 Cell membrane 7 0 0 1 3 2005-07-19 Q5GH77 XKR3_HUMAN XKR3 XK-related protein 3 459 53.4 22 Cell membrane 10 0 0 1 3 2005-10-11 Q5H9M0 PWP3B_HUMAN PWWP3B PWWP domain-containing DNA repair factor 3B 696 79 X 0 0 0 1 3 2006-10-31 Q5JQF8 PAP1M_HUMAN PABPC1L2A Polyadenylate-binding protein 1-like 2 200 22.8 X 0 0 0 1 3 2007-09-11 Q5JRV8 T255A_HUMAN TMEM255A Transmembrane protein 255A 349 38.4 X Membrane 4 0 0 1 3 2006-12-12 Q5JUK9 PAGE3_HUMAN PAGE3 P antigen family member 3 113 12.5 X 0 0 0 1 3 2006-07-25 Q5JX69 F209B_HUMAN FAM209B Protein FAM209B 171 19.5 20 Nucleus inner membrane; Cytoplasmic vesicle 1 0 0 1 3 2006-05-16 Q5SRH9 TT39A_HUMAN TTC39A Tetratricopeptide repeat protein 39A 613 69.8 1 0 0 0 1 3 2007-06-26 Q5SV97 PERM1_HUMAN PERM1 PGC-1 and ERR-induced regulator in muscle protein 1 790 81.4 1 Cytoplasm; Nucleus 0 0 0 1 3 2007-09-11 Q5SVQ8 ZBT41_HUMAN ZBTB41 Zinc finger and BTB domain-containing protein 41 909 105.2 1 Nucleus 0 0 0 1 3 2007-02-20 Q5T0B9 ZN362_HUMAN ZNF362 Zinc finger protein 362 420 45.8 1 Nucleus 0 0 0 1 3 2007-09-11 Q5T1S8 NCMAP_HUMAN NCMAP Noncompact myelin-associated protein 102 11.1 1 Cell membrane 1 0 0 1 3 2006-12-12 Q5TC63 GRTP1_HUMAN GRTP1 Growth hormone-regulated TBC protein 1 336 38.6 13 0 0 0 1 3 2007-05-29 Q5TF21 MTCL3_HUMAN MTCL3 Microtubule cross-linking factor 3 947 103.2 6 Membrane 1 0 0 1 3 2007-01-09 Q5TFE4 NT5D1_HUMAN NT5DC1 5'-nucleotidase domain-containing protein 1 455 51.8 6 3.1.3.- 0 0 0 1 3 2006-07-25 Q5THK1 PR14L_HUMAN PRR14L Protein PRR14L 2151 237.3 22 0 0 0 1 3 2007-07-24 Q5VIY5 ZN468_HUMAN ZNF468 Zinc finger protein 468 522 60.6 19 Nucleus 0 0 0 1 3 2007-03-20 Q5VTL8 PR38B_HUMAN PRPF38B Pre-mRNA-splicing factor 38B 546 64.5 1 Nucleus 0 0 0 1 3 2007-05-15 Q5VX52 SPAT1_HUMAN SPATA1 Spermatogenesis-associated protein 1 459 52.9 1 Cytoplasmic vesicle 0 0 0 1 3 2008-09-02 Q5VYM1 S31G1_HUMAN SPATA31G1 Spermatogenesis-associated protein 31G1 1079 117.7 9 0 0 0 2 3 2007-07-10 Q5VZI3 TM268_HUMAN TMEM268 Transmembrane protein 268 342 37.6 9 Cell membrane 2 0 0 1 3 2007-03-06 Q5VZR4 S71A3_HUMAN SLC71A3P Putative solute carrier family 71 member 3 150 16.4 Membrane 3 0 0 5 3 2006-05-30 Q5W186 CST9_HUMAN CST9 Cystatin-9 159 18.1 20 Secreted 0 0 0 1 3 2008-01-15 Q5W5W9 RES18_HUMAN RESP18 Regulated endocrine-specific protein 18 228 25 2 0 0 0 5 3 2008-05-20 Q69YL0 NCAS2_HUMAN NCBP2AS2 Protein NCBP2AS2 99 10.9 3 0 0 0 1 3 2009-04-14 Q6AI12 ANR40_HUMAN ANKRD40 Ankyrin repeat domain-containing protein 40 368 41.1 17 0 0 0 1 3 2006-06-27 Q6DD87 ZN787_HUMAN ZNF787 Zinc finger protein 787 382 40.4 19 Nucleus 0 0 0 1 3 2007-05-15 Q6EBC2 IL31_HUMAN IL31 Interleukin-31 164 18.2 12 Secreted 0 0 0 1 3 2007-02-06 Q6EEV4 GL1AD_HUMAN POLR2M DNA-directed RNA polymerase II subunit GRINL1A, isoforms 4/5 148 15.1 15 0 0 0 1 3 2008-03-18 Q6ICC9 RTL6_HUMAN RTL6 Retrotransposon Gag-like protein 6 239 26.2 22 0 0 0 1 3 2007-05-29 Q6IEE8 SN12L_HUMAN SLFN12L Schlafen family member 12-like 588 67.1 17 Membrane 1 0 0 2 3 2008-05-20 Q6IEY1 OR4F3_HUMAN OR4F3 Olfactory receptor 4F3/4F16/4F29 312 35.1 1 Cell membrane 7 0 0 1 3 2005-12-20 Q6IEZ7 OR2T5_HUMAN OR2T5 Olfactory receptor 2T5 315 35.6 1 Cell membrane 7 0 0 2 3 2005-12-20 Q6IS14 IF5AL_HUMAN EIF5AL1 Eukaryotic translation initiation factor 5A-1-like 154 16.8 10 Cytoplasm; Nucleus; Endoplasmic reticulum membrane 0 0 0 1 3 2008-06-10 Q6NSW5 DE10B_HUMAN DENND10P1 Putative DENN domain-containing protein 10 B 357 40.5 Late endosome 0 0 0 5 3 2004-08-16 Q6NT89 TRNP1_HUMAN TRNP1 TMF-regulated nuclear protein 1 227 23.5 1 Nucleus 0 0 0 1 3 2008-05-20 Q6NZ63 STEAL_HUMAN STEAP1B STEAP family member 1B 245 28.8 7 Membrane 4 0 0 1 3 2008-02-26 Q6P280 ZN529_HUMAN ZNF529 Zinc finger protein 529 563 65.9 19 Nucleus 0 0 0 1 3 2007-03-20 Q6PCB5 RSBNL_HUMAN RSBN1L Lysine-specific demethylase RSBN1L 846 94.9 7 1.14.11.- Nucleus 0 0 0 1 3 2007-09-11 Q6T423 S22AP_HUMAN SLC22A25 Solute carrier family 22 member 25 547 61 11 Membrane 12 0 0 2 3 2008-04-08 Q6UWF7 NXPE4_HUMAN NXPE4 NXPE family member 4 544 62.3 11 Secreted 0 0 0 1 3 2005-07-19 Q6UWN0 LYPD4_HUMAN LYPD4 Ly6/PLAUR domain-containing protein 4 246 26.8 19 Cell membrane 0 0 0 1 3 2006-03-07 Q6UX72 B3GN9_HUMAN B3GNT9 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 402 43.8 16 2.4.1.- Golgi apparatus membrane 1 0 0 1 3 2008-10-14 Q6UXB3 LYPD2_HUMAN LYPD2 Ly6/PLAUR domain-containing protein 2 125 13.1 8 Cell membrane 0 0 0 1 3 2006-03-07 Q6UXN7 TO20L_HUMAN TOMM20L TOMM20-like protein 1 152 17.7 14 Mitochondrion outer membrane 1 0 0 1 3 2008-02-05 Q6UY18 LIGO4_HUMAN LINGO4 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 4 593 63.8 1 Membrane 1 0 0 2 3 2008-03-18 Q6UY27 PATE2_HUMAN PATE2 Prostate and testis expressed protein 2 113 13 11 Secreted 0 0 0 1 3 2006-12-12 Q6V9R5 ZN562_HUMAN ZNF562 Zinc finger protein 562 426 48.6 19 Nucleus 0 0 0 1 3 2005-12-06 Q6Y2X3 DJC14_HUMAN DNAJC14 DnaJ homolog subfamily C member 14 702 78.6 12 Endoplasmic reticulum membrane 3 0 0 1 3 2006-07-25 Q6ZMY6 WDR88_HUMAN WDR88 WD repeat-containing protein 88 472 52.6 19 0 0 0 1 3 2007-05-01 Q6ZMY9 ZN517_HUMAN ZNF517 Zinc finger protein 517 492 54.7 8 Nucleus 0 0 0 1 3 2005-11-22 Q6ZP01 RBM44_HUMAN RBM44 RNA-binding protein 44 1051 118 2 Cytoplasm 0 0 0 1 3 2007-07-10 Q6ZQQ6 WDR87_HUMAN WDR87 WD repeat-containing protein 87 2873 333.2 19 0 0 0 1 3 2008-01-15 Q6ZR62 RTL4_HUMAN RTL4 Retrotransposon Gag-like protein 4 310 34.7 X 0 0 0 1 3 2006-10-31 Q6ZS11 RINL_HUMAN RINL Ras and Rab interactor-like protein 566 62.5 19 Cell projection; Cytoplasmic vesicle 0 0 0 1 3 2008-02-26 Q6ZS82 R9BP_HUMAN RGS9BP Regulator of G protein signaling 9-binding protein 235 25.1 19 Membrane 1 1 Prolonged electroretinal response suppression 2 0 1 3 2007-05-15 Q6ZU69 S31F1_HUMAN SPATA31F1 Protein SPATA31F1 1335 148.1 9 Membrane 1 0 0 1 3 2007-10-23 Q6ZUJ4 CC062_HUMAN C3orf62 Uncharacterized protein C3orf62 267 30.2 3 0 0 0 1 3 2006-06-13 Q6ZUS6 CC149_HUMAN CCDC149 Coiled-coil domain-containing protein 149 474 52.8 4 0 0 0 1 3 2008-07-22 Q6ZVF9 GRIN3_HUMAN GPRIN3 G protein-regulated inducer of neurite outgrowth 3 776 82.4 4 0 0 0 1 3 2006-10-03 Q6ZVL6 K154L_HUMAN KIAA1549L UPF0606 protein KIAA1549L 1849 199 11 Membrane 1 0 0 1 3 2007-02-06 Q765I0 UTS2B_HUMAN UTS2B Urotensin-2B 119 13.7 3 Secreted 0 0 0 3 3 2004-11-23 Q7L0X2 ERIP6_HUMAN ERICH6 Glutamate-rich protein 6 663 75.3 3 Nucleus 0 0 0 1 3 2007-06-26 Q7L211 ABHDD_HUMAN ABHD13 Protein ABHD13 337 38.5 13 3.-.-.- Membrane 1 0 0 1 3 2007-03-20 Q7L4S7 ARMX6_HUMAN ARMCX6 Protein ARMCX6 300 33 X Mitochondrion; Mitochondrion outer membrane 1 0 0 1 3 2005-12-20 Q7RTU0 TCF24_HUMAN TCF24 Transcription factor 24 167 17.5 8 Nucleus 0 0 0 1 3 2011-03-08 Q7Z388 D19L4_HUMAN DPY19L4 Probable C-mannosyltransferase DPY19L4 723 83.8 8 2.4.1.- Membrane 12 0 0 1 3 2007-12-04 Q7Z3J3 RGPD4_HUMAN RGPD4 RanBP2-like and GRIP domain-containing protein 4 1758 197.3 2 0 0 0 1 3 2008-01-15 Q7Z3V5 ZN571_HUMAN ZNF571 Zinc finger protein 571 609 70.8 19 Nucleus 0 0 0 1 3 2005-12-06 Q7Z422 SZRD1_HUMAN SZRD1 SUZ RNA-binding domain-containing 152 17 1 0 0 0 1 3 2007-09-11 Q7Z4L0 COX8C_HUMAN COX8C Cytochrome c oxidase subunit 8C, mitochondrial 72 8.1 14 Mitochondrion inner membrane 1 0 0 1 3 2004-01-16 Q7Z5J8 ANKAR_HUMAN ANKAR Ankyrin and armadillo repeat-containing protein 1434 162 2 Membrane 1 0 0 1 3 2007-05-15 Q7Z6W1 TMCO2_HUMAN TMCO2 Transmembrane and coiled-coil domain-containing protein 2 182 20.1 1 Cytoplasmic vesicle 1 0 0 1 3 2006-09-19 Q86SI9 CEI_HUMAN IRX2-DT Putative uncharacterized protein IRX2-DT 138 15.1 5 Secreted 0 0 0 5 3 2007-07-10 Q86V59 PNM8A_HUMAN PNMA8A Paraneoplastic antigen-like protein 8A 439 48.2 19 0 0 0 1 3 2008-03-18 Q86V71 ZN429_HUMAN ZNF429 Zinc finger protein 429 674 78.2 19 Nucleus 0 0 0 1 3 2003-09-19 Q86VE3 SATL1_HUMAN SATL1 Spermidine/spermine N(1)-acetyltransferase-like protein 1 695 75.8 X 2.3.1.- 0 0 0 1 3 2007-04-03 Q86VQ1 GLCI1_HUMAN GLCCI1 Glucocorticoid-induced transcript 1 protein 547 58 7 0 0 0 1 3 2006-10-31 Q86VY9 T200A_HUMAN TMEM200A Transmembrane protein 200A 491 54.4 6 Membrane 2 0 0 1 3 2007-07-10 Q86XU0 ZN677_HUMAN ZNF677 Zinc finger protein 677 584 68 19 Nucleus 0 0 0 1 3 2006-05-02 Q86YQ2 LATH_HUMAN BPIFA4P Putative BPIFA4P protein 179 19.5 Secreted 0 0 0 5 3 2003-11-07 Q86YR6 POTED_HUMAN POTED POTE ankyrin domain family member D 584 66.4 21 Cell membrane 0 0 0 2 3 2003-08-22 Q8IUB5 WFD13_HUMAN WFDC13 WAP four-disulfide core domain protein 13 93 10.4 20 Secreted 0 0 0 1 3 2003-04-04 Q8IUH2 CREG2_HUMAN CREG2 Protein CREG2 290 32.1 2 Secreted 0 0 0 1 3 2005-02-15 Q8IV35 CF337_HUMAN CFAP337 Cilia- and flagella-associated protein 337 1049 119 3 Cell projection 0 0 0 1 3 2006-10-17 Q8IV50 LYSM2_HUMAN LYSMD2 LysM and putative peptidoglycan-binding domain-containing protein 2 215 23.5 15 0 0 0 1 3 2006-09-05 Q8IVA1 PCP2_HUMAN PCP2 Purkinje cell protein 2 homolog 136 14.5 19 0 0 0 1 3 2003-04-11 Q8IW92 GLBL2_HUMAN GLB1L2 Beta-galactosidase-1-like protein 2 636 72.1 11 3.2.1.23 0 0 0 1 3 2008-02-05 Q8IWB4 S31A7_HUMAN SPATA31A7 Spermatogenesis-associated protein 31A7 1347 148.7 9 Membrane 1 0 0 1 3 2007-03-20 Q8IX94 CTGE4_HUMAN CTAGE4 cTAGE family member 4 777 88 7 Membrane 1 0 0 2 3 2005-01-04 Q8IXM7 CMA1C_HUMAN CIMAP1C Ciliary microtubule associated protein 1C 274 31.1 15 0 0 0 1 3 2007-10-02 Q8IY51 TIGD4_HUMAN TIGD4 Tigger transposable element-derived protein 4 512 57.5 4 Nucleus 0 0 0 1 3 2007-01-23 Q8IYA7 MKX_HUMAN MKX Homeobox protein Mohawk 352 39.3 10 Nucleus 0 0 0 1 3 2006-12-12 Q8IYB9 ZN595_HUMAN ZNF595 Zinc finger protein 595 648 74.3 4 Nucleus 0 0 0 1 3 2004-11-23 Q8N127 O5AS1_HUMAN OR5AS1 Olfactory receptor 5AS1 324 36.7 11 Cell membrane 7 0 0 1 3 2003-10-10 Q8N141 ZFP82_HUMAN ZFP82 Zinc finger protein 82 homolog 532 62.6 19 Nucleus 0 0 0 1 3 2006-05-02 Q8N1A6 CD033_HUMAN C4orf33 UPF0462 protein C4orf33 199 23.5 4 0 0 0 1 3 2007-07-24 Q8N1L4 CP4Z2_HUMAN CYP4Z2P Putative inactive cytochrome P450 family member 4Z2 340 40.2 Membrane 1 0 0 5 3 2008-04-29 Q8N228 SCML4_HUMAN SCML4 Sex comb on midleg-like protein 4 414 45 6 Nucleus 0 0 0 1 3 2008-05-20 Q8N3T6 T132C_HUMAN TMEM132C Transmembrane protein 132C 1108 121.8 12 Membrane 1 0 0 1 3 2008-03-18 Q8N3Z3 GTPB8_HUMAN GTPBP8 GTP-binding protein 8 284 32.1 3 0 0 0 1 3 2008-06-10 Q8N584 TT39C_HUMAN TTC39C Tetratricopeptide repeat protein 39C 583 65.9 18 0 0 0 1 3 2007-02-06 Q8N5J4 SPIC_HUMAN SPIC Transcription factor Spi-C 248 29.2 12 Nucleus 0 0 0 1 3 2005-07-05 Q8N5W9 RFLB_HUMAN RFLNB Refilin-B 214 22.9 17 Cytoplasm 0 0 0 1 3 2006-12-12 Q8N699 MYCT1_HUMAN MYCT1 Myc target protein 1 235 26.6 6 Nucleus 0 0 0 1 3 2007-11-13 Q8N7C7 RN148_HUMAN RNF148 RING finger protein 148 305 34.4 7 Membrane 1 0 0 1 3 2006-10-31 Q8N7X1 RMXL3_HUMAN RBMXL3 RNA-binding motif protein, X-linked-like-3 1067 114.9 X 0 0 0 1 3 2006-11-28 Q8N8U3 RTL3_HUMAN RTL3 Retrotransposon Gag-like protein 3 475 52.8 X Nucleus 0 0 0 2 3 2003-08-22 Q8N9T8 KRI1_HUMAN KRI1 Protein KRI1 homolog 703 82.6 19 0 0 0 1 3 2007-08-21 Q8N9W8 GAR2_HUMAN GARIN2 Golgi-associated RAB2 interactor protein 2 422 47.1 14 Cell projection 0 0 0 1 3 2004-01-16 Q8NA23 WDR31_HUMAN WDR31 WD repeat-containing protein 31 367 40.8 9 0 0 0 1 3 2004-05-24 Q8NA92 THAP8_HUMAN THAP8 THAP domain-containing protein 8 274 30.1 19 0 0 0 1 3 2003-04-11 Q8NCT3 MACA2_HUMAN MATCAP2 Putative tyrosine carboxypeptidase MATCAP2 520 60.5 7 3.4.17.- 0 0 0 1 3 2008-02-26 Q8NDY6 BHE23_HUMAN BHLHE23 Class E basic helix-loop-helix protein 23 225 23.7 20 Nucleus 0 0 0 1 3 2006-07-11 Q8NE00 S38AC_HUMAN SLC38A12 Putative sodium-coupled neutral amino acid transporter 12 496 55.7 17 Membrane 11 0 0 1 3 2006-10-31 Q8NE18 NSUN7_HUMAN NSUN7 Protein NSUN7 718 81 4 Cytoplasm; Cell projection 0 0 0 1 3 2007-05-29 Q8NE65 ZN738_HUMAN ZNF738 Zinc finger protein 738 375 43.9 19 Nucleus 0 0 0 1 3 2007-02-06 Q8NES8 DB124_HUMAN DEFB124 Beta-defensin 124 71 8.1 20 Secreted 0 0 0 1 3 2003-10-03 Q8NFQ6 BPIFC_HUMAN BPIFC BPI fold-containing family C protein 507 56.5 22 Secreted 0 0 0 1 3 2003-08-29 Q8NG94 O11H1_HUMAN OR11H1 Olfactory receptor 11H1 326 36.6 22 Cell membrane 7 0 0 3 3 2003-10-10 Q8NG97 OR2Z1_HUMAN OR2Z1 Olfactory receptor 2Z1 314 34.4 19 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGA1 OR1M1_HUMAN OR1M1 Olfactory receptor 1M1 313 34.8 19 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGA8 O4F17_HUMAN OR4F17 Olfactory receptor 4F17 305 34.2 19 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGC5 OR6J1_HUMAN OR6J1 Olfactory receptor 6J1 347 38.7 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGC6 OR4KH_HUMAN OR4K17 Olfactory receptor 4K17 312 35 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGC7 O11H6_HUMAN OR11H6 Olfactory receptor 11H6 330 36.8 14 Cell membrane 7 0 0 1 3 2003-10-10 Q8NGE2 O2AP1_HUMAN OR2AP1 Olfactory receptor 2AP1 309 34.9 12 Cell membrane 7 0 0 3 3 2006-01-10 Q8NGE5 O10A7_HUMAN OR10A7 Olfactory receptor 10A7 316 35.7 12 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGE9 OR9Q2_HUMAN OR9Q2 Olfactory receptor 9Q2 314 35.4 11 Cell membrane 7 0 0 2 3 2005-12-20 Q8NGG8 OR8B3_HUMAN OR8B3 Olfactory receptor 8B3 313 35.3 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGH5 O56A1_HUMAN OR56A1 Olfactory receptor 56A1 318 35.8 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGI6 OR4DA_HUMAN OR4D10 Olfactory receptor 4D10 311 35.3 11 Cell membrane 7 0 0 2 3 2005-07-19 Q8NGJ3 O52E1_HUMAN OR52E1 Olfactory receptor 52E1 308 34.7 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGJ5 O51L1_HUMAN OR51L1 Olfactory receptor 51L1 315 35.4 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGJ6 O51A4_HUMAN OR51A4 Olfactory receptor 51A4 313 35.3 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGK6 O52I1_HUMAN OR52I1 Olfactory receptor 52I1 324 35.4 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGL9 OR4CG_HUMAN OR4C16 Olfactory receptor 4C16 310 35 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGN0 OR4D5_HUMAN OR4D5 Olfactory receptor 4D5 318 35.8 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGN5 O10G8_HUMAN OR10G8 Olfactory receptor 10G8 311 34.5 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGP0 OR4CD_HUMAN OR4C13 Olfactory receptor 4C13 309 34.6 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGP2 OR8J1_HUMAN OR8J1 Olfactory receptor 8J1 316 35.4 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGQ1 OR9G4_HUMAN OR9G4 Olfactory receptor 9G4 327 36.3 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGQ2 OR6Q1_HUMAN OR6Q1 Olfactory receptor 6Q1 317 35.7 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGR3 OR1K1_HUMAN OR1K1 Olfactory receptor 1K1 316 34.3 9 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGR9 OR1N2_HUMAN OR1N2 Olfactory receptor 1N2 316 35.2 9 Membrane 7 0 0 2 3 2003-10-10 Q8NGS5 O13C4_HUMAN OR13C4 Olfactory receptor 13C4 318 35.6 9 Cell membrane 7 0 0 3 3 2003-09-26 Q8NGS9 O13C2_HUMAN OR13C2 Olfactory receptor 13C2 318 35.7 9 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGT0 O13C9_HUMAN OR13C9 Olfactory receptor 13C9 318 35.9 9 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGU2 OR9A4_HUMAN OR9A4 Olfactory receptor 9A4 314 35.8 7 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGX1 O2T34_HUMAN OR2T34 Olfactory receptor 2T34 318 35.7 1 Cell membrane 7 0 0 2 3 2004-08-16 Q8NGY1 O10Z1_HUMAN OR10Z1 Olfactory receptor 10Z1 313 34.6 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH03 OR2T3_HUMAN OR2T3 Olfactory receptor 2T3 318 35.6 1 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH08 O10AC_HUMAN OR10AC1 Olfactory receptor 10AC1 325 35.2 Cell membrane 7 0 0 3 3 2008-09-02 Q8NH09 OR8S1_HUMAN OR8S1 Olfactory receptor 8S1 359 39.6 12 Cell membrane 7 0 0 3 3 2005-12-20 Q8NH41 OR4KF_HUMAN OR4K15 Olfactory receptor 4K15 324 36.5 14 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH53 O52N1_HUMAN OR52N1 Olfactory receptor 52N1 320 35.8 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH55 O52E5_HUMAN OR52E5 Olfactory receptor 52E5 327 36.9 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH64 O51A7_HUMAN OR51A7 Olfactory receptor 51A7 312 35.1 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH81 O10G6_HUMAN OR10G6 Olfactory receptor 10G6 332 36.8 11 Cell membrane 7 0 0 3 3 2006-01-10 Q8NHW5 RLA0L_HUMAN RPLP0P6 Putative ribosomal protein uL10-like 317 34.4 0 0 0 5 3 2008-09-02 Q8TAU0 NKX23_HUMAN NKX2-3 Homeobox protein Nkx-2.3 364 38.4 10 Nucleus 0 0 0 1 3 2003-01-27 Q8TAV0 FA76A_HUMAN FAM76A Protein FAM76A 307 35 1 0 0 0 1 3 2006-07-11 Q8TC17 GRAPL_HUMAN GRAPL GRB2-related adapter protein-like 118 13.4 17 0 0 0 1 3 2008-07-22 Q8TF08 CX7B2_HUMAN COX7B2 Cytochrome c oxidase subunit 7B2, mitochondrial 81 9.1 4 Mitochondrion inner membrane 1 0 0 1 3 2004-06-07 Q8TF32 ZN431_HUMAN ZNF431 Zinc finger protein 431 576 67.2 19 Nucleus 0 0 0 1 3 2003-04-23 Q8WVE6 TM171_HUMAN TMEM171 Transmembrane protein 171 324 34.8 5 Membrane 4 0 0 1 3 2006-09-19 Q8WVI7 PPR1C_HUMAN PPP1R1C Protein phosphatase 1 regulatory subunit 1C 109 12.3 2 Cytoplasm 0 0 0 1 3 2007-05-01 Q92670 ZN75C_HUMAN ZNF75CP Putative zinc finger protein 75C 426 49.8 Nucleus 0 0 0 5 3 2008-09-02 Q96AM1 MRGRF_HUMAN MRGPRF Mas-related G protein-coupled receptor member F 343 38.2 11 Cell membrane 7 0 0 1 3 2002-11-01 Q96AQ9 F131C_HUMAN FAM131C Protein FAM131C 280 30.4 1 0 0 0 1 3 2007-03-20 Q96B45 BORC7_HUMAN BORCS7 BLOC-1-related complex subunit 7 106 11.7 10 Lysosome membrane 0 0 0 1 3 2005-07-05 Q96CS4 ZN689_HUMAN ZNF689 Zinc finger protein 689 500 56.9 16 Nucleus 0 0 0 1 3 2006-05-02 Q96E66 LRC51_HUMAN LRRC51 Leucine-rich repeat-containing protein 51 192 22.2 11 Cytoplasm 0 0 0 1 3 2006-03-07 Q96ET8 TV23C_HUMAN TVP23C Golgi apparatus membrane protein TVP23 homolog C 276 31.1 17 Membrane 2 0 0 1 3 2006-01-24 Q96F63 CCD97_HUMAN CCDC97 Coiled-coil domain-containing protein 97 343 38.9 19 Nucleus 0 0 0 1 3 2007-05-01 Q96GE5 ZN799_HUMAN ZNF799 Zinc finger protein 799 643 74.3 19 Nucleus 0 0 0 1 3 2007-01-09 Q96H79 ZCCHL_HUMAN ZC3HAV1L Zinc finger CCCH-type antiviral protein 1-like 300 33 7 0 0 0 1 3 2008-04-29 Q96HV5 TM41A_HUMAN TMEM41A Transmembrane protein 41A 264 29.7 3 Membrane 5 0 0 1 3 2007-01-09 Q96KV6 BT2A3_HUMAN BTN2A3P Putative butyrophilin subfamily 2 member A3 586 65.7 Membrane 1 0 0 5 3 2005-02-01 Q96LK8 SPT32_HUMAN SPATA32 Spermatogenesis-associated protein 32 384 42.3 17 0 0 0 1 3 2007-04-03 Q96LU5 IMP1L_HUMAN IMMP1L Mitochondrial inner membrane protease subunit 1 166 18.5 11 3.4.21.- Mitochondrion inner membrane 0 0 0 1 3 2006-10-31 Q96M53 TBATA_HUMAN TBATA Protein TBATA 351 39.5 10 Cytoplasm 0 0 0 1 3 2005-07-19 Q96M69 LRGUK_HUMAN LRGUK Leucine-rich repeat and guanylate kinase domain-containing protein 825 93.6 7 Cytoplasmic vesicle; Cytoplasm 0 0 0 1 3 2008-03-18 Q96MK2 RIPR3_HUMAN RIPOR3 RIPOR family member 3 946 105.3 20 0 0 0 1 3 2003-04-30 Q96NI8 ZN570_HUMAN ZNF570 Zinc finger protein 570 536 62.3 19 Nucleus 0 0 0 1 3 2005-12-06 Q96PT4 DUX3_HUMAN DUX3 Putative double homeobox protein 3 197 22.1 Nucleus 0 0 0 2 3 2006-10-17 Q96QA6 YPEL2_HUMAN YPEL2 Protein yippee-like 2 119 13.6 17 Nucleus 0 0 0 1 3 2003-01-17 Q96QH8 LYZL5_HUMAN SPACA5 Sperm acrosome-associated protein 5 159 17.9 X 3.2.1.17 Secreted 0 0 0 1 3 2007-04-17 Q96R09 OR5B2_HUMAN OR5B2 Olfactory receptor 5B2 309 34.6 11 Cell membrane 7 0 0 2 3 2002-05-10 Q96R28 OR2M2_HUMAN OR2M2 Olfactory receptor 2M2 347 39.2 1 Cell membrane 7 0 0 3 3 2003-10-10 Q96R47 O2A14_HUMAN OR2A14 Olfactory receptor 2A14 310 35 7 Cell membrane 7 0 0 2 3 2003-10-10 Q96RD0 OR8B2_HUMAN OR8B2 Olfactory receptor 8B2 313 35.3 11 Cell membrane 7 0 0 3 3 2002-05-10 Q96RT6 CTGE2_HUMAN CTAGE1 cTAGE family member 2 745 85.3 18 Membrane 1 0 0 1 3 2005-01-04 Q96TA0 PCDBI_HUMAN PCDHB18P Putative protocadherin beta-18 734 80.4 Cell membrane 1 0 0 5 3 2008-06-10 Q99676 ZN184_HUMAN ZNF184 Zinc finger protein 184 751 86.2 6 Nucleus 0 0 0 1 3 1998-07-15 Q99680 GPR22_HUMAN GPR22 G protein-coupled receptor 22 433 49.3 7 Cell membrane 7 0 0 1 3 1997-11-01 Q9BQ13 KCD14_HUMAN KCTD14 BTB/POZ domain-containing protein KCTD14 255 29.6 11 0 0 0 1 3 2004-07-19 Q9BR09 NEUL2_HUMAN NEURL2 Neuralized-like protein 2 285 31.7 20 Cytoplasm 0 0 0 1 3 2003-07-25 Q9BUJ0 ABHEA_HUMAN ABHD14A Protein ABHD14A 271 29.8 3 3.-.-.- Cytoplasm; Membrane 1 0 0 1 3 2007-04-03 Q9BV87 CNPD1_HUMAN CNPPD1 Protein CNPPD1 410 45.5 2 Membrane 1 0 0 1 3 2005-07-05 Q9BXX2 AN30B_HUMAN ANKRD30B Ankyrin repeat domain-containing protein 30B 1392 158 18 0 0 0 2 3 2008-04-08 Q9BZW5 TM6S1_HUMAN TM6SF1 Transmembrane 6 superfamily member 1 370 41.6 15 Lysosome membrane 9 0 0 1 3 2002-03-27 Q9GZK7 O11A1_HUMAN OR11A1 Olfactory receptor 11A1 315 35.3 6 Cell membrane 7 0 0 2 3 2001-06-20 Q9GZN6 S6A16_HUMAN SLC6A16 Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 736 82.2 19 Membrane 12 0 0 1 3 2001-09-26 Q9GZN8 ADSSP_HUMAN ADISSP Adipose-secreted signaling protein 174 19.3 20 Secreted 0 0 0 1 3 2003-01-10 Q9H0M5 ZN700_HUMAN ZNF700 Zinc finger protein 700 742 86.2 19 Nucleus 0 0 0 1 3 2006-05-02 Q9H1Q7 PED1A_HUMAN PCED1A PC-esterase domain-containing protein 1A 454 51.8 20 0 0 0 1 3 2002-11-08 Q9H2I8 LRMDA_HUMAN LRMDA Leucine-rich melanocyte differentiation-associated protein 198 22.6 10 0 1 Albinism, oculocutaneous, 7 0 1 3 2004-04-26 Q9H2Z4 NKX24_HUMAN NKX2-4 Homeobox protein Nkx-2.4 354 36.2 20 Nucleus 0 0 0 1 3 2003-01-27 Q9H321 VCX3B_HUMAN VCX3B Variable charge X-linked protein 3B 246 26.9 X 0 0 0 2 3 2001-11-16 Q9H3Y8 PPDPF_HUMAN PPDPF Pancreatic progenitor cell differentiation and proliferation factor 114 11.8 20 0 0 0 1 3 2003-01-10 Q9H628 RERGL_HUMAN RERGL Ras-related and estrogen-regulated growth inhibitor-like protein 204 23.4 12 3.6.5.2 0 0 0 2 3 2008-02-26 Q9H7X2 RDD1_HUMAN C1orf115 Required for drug-induced death protein 1 142 15.5 1 Membrane 1 0 0 1 3 2006-12-12 Q9H7Y0 DIK2B_HUMAN DIPK2B Divergent protein kinase domain 2B 433 48.6 X Secreted 0 0 0 1 3 2005-07-05 Q9H819 DJC18_HUMAN DNAJC18 DnaJ homolog subfamily C member 18 358 41.6 5 Endoplasmic reticulum membrane 1 0 0 1 3 2006-06-27 Q9HA90 EFCC1_HUMAN EFCC1 EF-hand and coiled-coil domain-containing protein 1 598 65.7 3 0 0 0 1 3 2006-05-16 Q9HCE3 ZN532_HUMAN ZNF532 Zinc finger protein 532 1301 141.7 18 Nucleus 0 0 0 1 3 2007-09-11 Q9HCK1 ZDBF2_HUMAN ZDBF2 DBF4-type zinc finger-containing protein 2 2354 265.6 2 0 0 0 1 3 2008-01-15 Q9HCL3 ZFP14_HUMAN ZFP14 Zinc finger protein 14 homolog 533 63.5 19 Nucleus 0 0 0 1 3 2002-02-21 Q9HCM7 FBSL_HUMAN FBRSL1 Fibrosin-1-like protein 1045 110.9 12 0 0 0 1 3 2008-02-26 Q9NVE4 CCD87_HUMAN CCDC87 Coiled-coil domain-containing protein 87 849 96.4 11 0 0 0 1 3 2007-07-10 Q9NX00 TM160_HUMAN TMEM160 Transmembrane protein 160 188 19.7 19 Mitochondrion inner membrane 2 0 0 1 3 2007-02-20 Q9NX31 OSER1_HUMAN OSER1 Oxidative stress-responsive serine-rich protein 1 292 31.8 20 0 0 0 1 3 2003-02-01 Q9NX77 ENK13_HUMAN ERVK13-1 Endogenous retrovirus group K member 13-1 Env polyprotein 482 55 Virion 1 0 0 2 3 2004-05-24 Q9NYF3 FA53C_HUMAN FAM53C Protein FAM53C 392 43.1 5 0 0 0 1 3 2005-02-01 Q9NYT6 ZN226_HUMAN ZNF226 Zinc finger protein 226 803 91.9 19 Nucleus 0 0 0 1 3 2001-01-24 Q9NZH4 PTTG3_HUMAN PTTG3P Putative pituitary tumor-transforming gene 3 protein 202 22.1 Cytoplasm; Nucleus 0 0 0 5 3 2008-05-20 Q9P1P4 TAAR3_HUMAN TAAR3P Putative trace amine-associated receptor 3 343 39.1 Cell membrane 7 0 0 5 3 2003-11-07 Q9P1V8 SAM15_HUMAN SAMD15 Sterile alpha motif domain-containing protein 15 674 77.2 14 0 0 0 1 3 2007-03-06 Q9P2B7 CFA97_HUMAN CFAP97 Cilia- and flagella-associated protein 97 532 59.5 4 0 0 0 1 3 2007-11-13 Q9P2F5 STOX2_HUMAN STOX2 Storkhead-box protein 2 926 102.7 4 0 0 0 1 3 2008-01-15 Q9UF47 DNJ5B_HUMAN DNAJC5B DnaJ homolog subfamily C member 5B 199 22.5 8 Membrane 0 0 0 1 3 2000-12-01 Q9UGF6 OR5V1_HUMAN OR5V1 Olfactory receptor 5V1 321 36.1 6 Cell membrane 7 0 0 2 3 2001-06-20 Q9UGF7 O12D3_HUMAN OR12D3 Olfactory receptor 12D3 316 35.8 6 Cell membrane 7 0 0 2 3 2001-06-20 Q9UIG5 PS1C1_HUMAN PSORS1C1 Psoriasis susceptibility 1 candidate gene 1 protein 152 16.6 6 0 0 0 1 3 2003-11-21 Q9UII5 ZN107_HUMAN ZNF107 Zinc finger protein 107 783 90.7 7 Nucleus 0 0 0 1 3 2002-06-20 Q9UK10 ZN225_HUMAN ZNF225 Zinc finger protein 225 706 82.5 19 Nucleus 0 0 0 1 3 2000-12-01 Q9UPR6 ZFR2_HUMAN ZFR2 Zinc finger RNA-binding protein 2 939 101.3 19 0 0 0 1 3 2007-11-13 Q9XRX5 HHLA3_HUMAN ANKRD13C-DT Putative uncharacterized protein ANKRD13C-DT 114 12.9 1 0 0 0 5 3 2006-10-31 Q9Y236 OSGI2_HUMAN OSGIN2 Oxidative stress-induced growth inhibitor 2 505 56.7 8 Midbody 0 0 0 1 3 2000-12-01 Q9Y2B9 IPKG_HUMAN PKIG cAMP-dependent protein kinase inhibitor gamma 76 7.9 20 0 0 0 1 3 2000-05-30 Q9Y2G7 ZFP30_HUMAN ZFP30 Zinc finger protein 30 homolog 519 61.6 19 Nucleus 0 0 0 1 3 2000-05-30 Q9Y3N9 OR2W1_HUMAN OR2W1 Olfactory receptor 2W1 320 36.1 6 Cell membrane 7 0 0 2 3 2001-06-20 Q9Y5P2 CSAG2_HUMAN CSAG2 Chondrosarcoma-associated gene 2/3 protein 127 14.4 X 0 0 0 1 3 2000-05-30 Q9Y693 LHPL6_HUMAN LHFPL6 LHFPL tetraspan subfamily member 6 protein 200 21.6 13 Membrane 3 0 0 1 3 2006-07-11 Q9Y6S9 RPKL1_HUMAN RPS6KL1 Ribosomal protein S6 kinase-like 1 549 60 14 2.7.11.1 0 0 0 1 3 2006-04-18 Q9Y6U7 RN215_HUMAN RNF215 RING finger protein 215 377 41.1 22 Membrane 2 0 0 1 3 2007-05-15 Q9Y6X4 F169A_HUMAN FAM169A Soluble lamin-associated protein of 75 kDa 670 75 5 Nucleus envelope; Nucleus inner membrane 0 0 0 1 3 2008-02-26 A0A075B6H8 KVD42_HUMAN IGKV1D-42 Probable non-functional immunoglobulin kappa variable 1D-42 117 13 2 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A075B6H9 LV469_HUMAN IGLV4-69 Immunoglobulin lambda variable 4-69 119 12.8 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6I3 LVK55_HUMAN IGLV11-55 Probable non-functional immunoglobulin lambda variable 11-55 123 13.2 22 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A075B6J2 LV233_HUMAN IGLV2-33 Probable non-functional immunoglobulin lambda variable 2-33 118 12.7 22 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A075B6K2 LV312_HUMAN IGLV3-12 Immunoglobulin lambda variable 3-12 115 12.4 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6K4 LV310_HUMAN IGLV3-10 Immunoglobulin lambda variable 3-10 115 12.4 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6K5 LV39_HUMAN IGLV3-9 Immunoglobulin lambda variable 3-9 115 12.3 22 Secreted; Cell membrane 0 0 0 1 3 2017-09-27 A0A075B6N4 TVBY1_HUMAN TRBV25-1 T cell receptor beta variable 25-1 114 13 7 Cell membrane 0 0 0 3 3 2018-07-18 A0A075B6X5 TVA18_HUMAN TRAV18 T cell receptor alpha variable 18 111 12.4 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A087WSY4 HV432_HUMAN IGHV4-30-2 Immunoglobulin heavy variable 4-30-2 118 13 14 Secreted; Cell membrane 0 0 0 1 3 2017-04-12 A0A087WXM9 MEIKN_HUMAN MEIKIN Meiosis-specific kinetochore protein 373 40.8 5 Chromosome 0 0 0 1 3 2015-03-04 A0A0A0MS02 TRGV1_HUMAN TRGV1 Probable non-functional T cell receptor gamma variable 117 13.2 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A0A0MS06 TVB23_HUMAN TRBV23-1 Probable non-functional T cell receptor beta variable 23-1 115 12.8 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A0A0MT36 KVD21_HUMAN IGKV6D-21 Immunoglobulin kappa variable 6D-21 114 12.3 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0A6YYD4 TVB13_HUMAN TRBV13 T cell receptor beta variable 13 124 14 7 Cell membrane 0 0 0 1 3 2018-05-23 A0A0A6YYK6 TVA16_HUMAN TRAV16 T cell receptor alpha variable 16 109 12.6 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A0B4J1V7 HV781_HUMAN IGHV7-81 Probable non-functional immunoglobulin heavy variable 7-81 117 12.9 14 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A0B4J1Y9 HV372_HUMAN IGHV3-72 Immunoglobulin heavy variable 3-72 119 13.2 14 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0B4J238 TVA12_HUMAN TRAV1-2 T cell receptor alpha variable 1-2 106 11.9 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0B4J262 TVA86_HUMAN TRAV8-6 T cell receptor alpha variable 8-6 113 12.7 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A0B4J2D9 KVD13_HUMAN IGKV1D-13 Immunoglobulin kappa variable 1D-13 117 12.6 2 Secreted; Cell membrane 0 0 0 3 3 2017-01-18 A0A0C4DH34 HV428_HUMAN IGHV4-28 Immunoglobulin heavy variable 4-28 117 13.1 14 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0C4DH35 HV335_HUMAN IGHV3-35 Probable non-functional immunoglobulin heavy variable 3-35 117 12.8 14 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A0C4DH67 KV108_HUMAN IGKV1-8 Immunoglobulin kappa variable 1-8 115 12.5 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0C4DH68 KV224_HUMAN IGKV2-24 Immunoglobulin kappa variable 2-24 120 13.1 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0C4DH69 KV109_HUMAN IGKV1-9 Immunoglobulin kappa variable 1-9 117 12.7 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0K0K1A3 TVBJ1_HUMAN TRBV10-1 T cell receptor beta variable 10-1 114 13 7 Cell membrane 0 0 0 3 3 2018-04-25 A0A0K0K1C0 TVBK1_HUMAN TRBV11-1 T cell receptor beta variable 11-1 115 12.8 7 Cell membrane 0 0 0 3 3 2018-04-25 A0A1B0GVH4 PRS51_HUMAN PRSS51 Serine protease-like protein 51 220 25.6 8 Secreted 0 0 0 3 3 2017-09-27 A0A1B0GWG4 SRTM2_HUMAN SERTM2 Serine-rich and transmembrane domain-containing protein 2 90 10.2 X Cytoplasm; Cell membrane 1 0 0 2 3 2018-02-28 A0A1B0GX78 TVBL5_HUMAN TRBV12-5 T cell receptor beta variable 12-5 115 13 7 Cell membrane 0 0 0 3 3 2018-05-23 A0A1W2PQD8 S72L2_HUMAN SSU72L2 RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 2 194 22.4 11 Nucleus 0 0 0 3 3 2023-02-22 A0A1W2PR82 PERC1_HUMAN PERCC1 Protein PERCC1 267 29.2 16 0 1 Diarrhea 11, malabsorptive, congenital 0 1 3 2019-09-18 A0A2R8Y4L6 OR5D3_HUMAN OR5D3 Olfactory receptor 5D3 323 36.5 11 Membrane 7 0 0 3 3 2026-01-28 A0A2R8Y619 H2BK1_HUMAN H2BK1 Histone H2B type 2-K1 122 13.5 7 Chromosome; Nucleus 0 0 0 1 3 2020-06-17 A0A3B3IS91 PLGRF_HUMAN POLGARF POLG alternative reading frame 260 25.5 15 Nucleus 0 0 0 1 3 2022-02-23 A0A590UK83 SMI45_HUMAN SMIM45 Small integral membrane protein 45 68 8 22 Nucleus; Cytoplasm; Membrane 1 0 0 2 3 2022-02-23 A0A5A6 TVBK3_HUMAN TRBV11-3 T cell receptor beta variable 11-3 115 13 7 Cell membrane 0 0 0 1 3 2018-04-25 A0A804HLA8 GBG5B_HUMAN GNG5B Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-5B 68 7.3 X Cell membrane 0 0 0 3 3 2022-10-12 A0ZSE6 CC50C_HUMAN CDC50CP Putative protein CDC50CP 113 13 Membrane 1 0 0 5 3 2007-06-26 A1L453 PRS38_HUMAN PRSS38 Serine protease 38 326 35.4 1 3.4.21.- Secreted 0 0 0 1 3 2008-04-08 A2A368 MAGBG_HUMAN MAGEB16 Melanoma-associated antigen B16 324 36.2 X 0 0 0 4 3 2007-12-04 A2CJ06 DYTN_HUMAN DYTN Dystrotelin 578 65.3 2 Cell membrane 0 0 0 2 3 2007-08-21 A2RTY3 HEAT9_HUMAN HEATR9 Protein HEATR9 570 65.7 17 0 0 0 1 3 2007-05-15 A4QPH2 PI4P2_HUMAN PI4KAP2 Putative phosphatidylinositol 4-kinase alpha-like protein P2 592 66.9 0 0 0 5 3 2008-02-26 A5PLK6 RGSL_HUMAN RGSL1 Regulator of G protein signaling protein-like 1076 125.7 1 Membrane 1 0 0 1 3 2008-09-02 A5PLL1 AN34B_HUMAN ANKRD34B Ankyrin repeat domain-containing protein 34B 514 56.4 5 Cytoplasm; Nucleus 0 0 0 1 3 2008-02-26 A6NCW7 U17L4_HUMAN USP17L4 Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4 530 59.6 8 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2008-04-29 A6NDS4 TBC3B_HUMAN TBC1D3B TBC1 domain family member 3B 549 62.3 17 Cell membrane 0 0 0 2 3 2007-09-11 A6NE52 WDR97_HUMAN WDR97 WD repeat-containing protein 97 1622 180.3 8 0 0 0 1 3 2008-05-20 A6NEC2 PSAL_HUMAN NPEPPSL1 Puromycin-sensitive aminopeptidase-like protein 478 53.7 3.4.11.- 0 0 0 1 3 2008-04-29 A6NET4 OR5K3_HUMAN OR5K3 Olfactory receptor 5K3 321 36.7 3 Cell membrane 7 0 0 3 3 2007-11-13 A6NF89 OR6C6_HUMAN OR6C6 Olfactory receptor 6C6 314 36 12 Cell membrane 7 0 0 3 3 2007-11-13 A6NFH5 FBP12_HUMAN FABP12 Fatty acid-binding protein 12 140 15.6 8 0 0 0 1 3 2008-07-01 A6NFQ7 DPRX_HUMAN DPRX Divergent paired-related homeobox 191 21.6 19 Nucleus 0 0 0 2 3 2007-11-13 A6NG13 MGT4D_HUMAN MGAT4D Alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein MGAT4D 374 43.7 4 Golgi apparatus membrane; Endoplasmic reticulum membrane 1 0 0 2 3 2007-11-13 A6NHG9 O5H14_HUMAN OR5H14 Olfactory receptor 5H14 310 35.1 3 Cell membrane 7 0 0 2 3 2007-12-04 A6NI72 NCF1B_HUMAN NCF1B Putative neutrophil cytosol factor 1B 391 44.8 Cytoplasm 0 0 0 5 3 2008-09-02 A6NJW4 LRR3C_HUMAN LRRC3C Leucine-rich repeat-containing protein 3C 275 29.3 17 Membrane 1 0 0 2 3 2008-09-02 A6NKG5 RTL1_HUMAN RTL1 Retrotransposon-like protein 1 1358 155 14 Membrane 2 0 0 1 3 2008-06-10 A6NLP5 TTC36_HUMAN TTC36 Tetratricopeptide repeat protein 36 189 20.9 11 0 0 0 1 3 2008-05-20 A6NM11 L37A2_HUMAN LRRC37A2 Leucine-rich repeat-containing protein 37A2 1700 188.4 17 Membrane 1 0 0 1 3 2008-05-20 A6NMX2 I4E1B_HUMAN EIF4E1B Eukaryotic translation initiation factor 4E type 1B 242 27.6 5 0 0 0 1 3 2008-07-01 A6NNA5 DRGX_HUMAN DRGX Dorsal root ganglia homeobox protein 263 28.7 10 Nucleus 0 0 0 1 3 2007-09-11 A8MUH7 PDZ1P_HUMAN PDZK1P1 Putative PDZ domain-containing protein PDZK1P1 402 44.1 0 0 0 5 3 2008-07-22 A8MV23 SERP3_HUMAN SERPINE3 Serpin E3 424 47 13 Secreted 0 0 0 1 3 2008-06-10 A8MVW0 F1712_HUMAN FAM171A2 Protein FAM171A2 826 87.4 17 Membrane 1 0 0 1 3 2008-04-08 A8MXZ3 KRA91_HUMAN KRTAP9-1 Keratin-associated protein 9-1 250 26.3 17 0 0 0 1 3 2008-04-29 B1ANS9 WDR64_HUMAN WDR64 WD repeat-containing protein 64 1081 123.6 1 Cytoplasm; Cell projection 0 0 0 1 3 2008-05-20 B2RNN3 C1T9B_HUMAN C1QTNF9B Complement C1q and tumor necrosis factor-related protein 9B 333 34.7 13 Secreted 0 0 0 1 3 2008-09-02 C0HM83 SHMOS_HUMAN Protein SHMOOSE 58 6.6 MT Mitochondrion; Nucleus 0 0 0 1 3 2023-11-08 C0HMA1 P155_HUMAN MIR155HG HSPA8-interacting micropeptide miPEP155 17 1.9 Cytoplasm; Nucleus 0 0 0 1 3 2024-01-24 C9JH25 PRRT4_HUMAN PRRT4 Proline-rich transmembrane protein 4 899 92.7 7 Membrane 5 0 0 1 3 2010-06-15 C9JXX5 FREY_HUMAN FREY1 Protein Frey 1 98 10.9 11 Endoplasmic reticulum membrane 1 0 0 3 3 2010-05-18 D6RIA3 CD054_HUMAN C4orf54 Uncharacterized protein C4orf54 1793 190.1 4 0 0 0 1 3 2018-04-25 F5GYI3 UBA1L_HUMAN UBAP1L Ubiquitin-associated protein 1-like 381 40.6 15 0 1 Retinal dystrophy, Zeitz-Han type 0 1 3 2011-10-19 L0R6Q1 S35U4_HUMAN SLC35A4 SLC35A4 upstream open reading frame protein 103 11.1 5 Mitochondrion inner membrane 1 0 0 1 3 2017-03-15 O00458 IFRD1_HUMAN IFRD1 Interferon-related developmental regulator 1 451 50.3 7 0 0 0 1 3 2000-05-30 O14498 ISLR_HUMAN ISLR Immunoglobulin superfamily containing leucine-rich repeat protein 428 46 15 Secreted 0 0 0 1 3 2007-12-04 O14581 OR7AH_HUMAN OR7A17 Olfactory receptor 7A17 309 34 19 Cell membrane 7 0 0 1 3 2001-06-20 O14598 VCY1_HUMAN VCY Testis-specific basic protein Y 1 125 12.9 Y 0 0 0 1 3 1999-07-15 O15255 CXX1_HUMAN RTL8C CAAX box protein 1 209 22.3 Cell membrane 0 0 0 2 3 2000-12-01 O15482 TEX28_HUMAN TEX28 Testis-specific protein TEX28 410 46.1 X Membrane 1 0 0 1 3 1998-12-15 O43246 CTR4_HUMAN SLC7A4 Cationic amino acid transporter 4 635 68.3 22 Membrane 13 0 0 1 3 2001-01-24 O60268 K0513_HUMAN KIAA0513 Uncharacterized protein KIAA0513 411 46.6 16 Cytoplasm 0 0 0 1 3 1999-07-15 O60404 O10H3_HUMAN OR10H3 Olfactory receptor 10H3 316 35.7 19 Cell membrane 7 0 0 2 3 2001-06-20 O60575 ISK4_HUMAN SPINK4 Serine protease inhibitor Kazal-type 4 86 9.5 9 Secreted 0 0 0 1 3 2000-05-30 O75373 ZN737_HUMAN ZNF737 Zinc finger protein 737 536 61.9 19 Nucleus 0 0 0 1 3 2008-06-10 O75467 Z324A_HUMAN ZNF324 Zinc finger protein 324A 553 61.1 19 Nucleus 0 0 0 1 3 2002-03-27 O95424 DEXI_HUMAN DEXI Dexamethasone-induced protein 95 10.4 16 0 0 0 1 3 2000-05-30 O95744 PM2P2_HUMAN PMS2P2 Putative postmeiotic segregation increased 2-like protein 2 297 32.7 0 0 0 5 3 2007-11-13 O95857 TSN13_HUMAN TSPAN13 Tetraspanin-13 204 22.1 7 Membrane 4 0 0 1 3 2000-12-01 O95969 SG1D2_HUMAN SCGB1D2 Secretoglobin family 1D member 2 90 9.9 11 Secreted 0 0 0 1 3 2000-05-30 P0C5J1 F86B2_HUMAN FAM86B2 Putative protein N-methyltransferase FAM86B2 330 36.8 8 2.1.1.- 0 0 0 1 3 2007-10-23 P0C629 O10J4_HUMAN OR10J4 Olfactory receptor 10J4 311 34.9 Cell membrane 7 0 0 3 3 2008-01-15 P0C646 O52Z1_HUMAN OR52Z1 Olfactory receptor 52Z1 298 33.4 Cell membrane 7 0 0 3 3 2008-01-15 P0C7A2 F153B_HUMAN FAM153B Protein FAM153B 387 43.6 5 0 0 0 1 3 2008-04-08 P0C7H9 U17L7_HUMAN USP17L7 Inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7 530 59.8 8 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2008-04-29 P0C7I6 CC159_HUMAN CCDC159 Coiled-coil domain-containing protein 159 297 33.7 19 0 0 0 1 3 2008-05-20 P0CG40 SP9_HUMAN SP9 Transcription factor Sp9 484 48.9 2 Nucleus 0 0 0 1 3 2010-07-13 P0CW01 TSPYA_HUMAN TSPY10 Testis-specific Y-encoded protein 10 308 35.1 Y Cytoplasm; Nucleus 0 0 0 1 3 2011-05-03 P0DMU2 OR8G3_HUMAN OR8G3 Olfactory receptor 8G3 310 34.5 Cell membrane 7 0 0 3 3 2015-04-29 P0DMU9 CT45A_HUMAN CT45A10 Cancer/testis antigen family 45 member A10 189 21.1 X Nucleus 0 0 0 1 3 2015-05-27 P0DP07 HV431_HUMAN IGHV4-31 Immunoglobulin heavy variable 4-31 118 13.1 Secreted; Cell membrane 0 0 0 1 3 2017-04-12 P0DUH7 HRURF_HUMAN HRURF Protein HRURF 34 3.8 8 0 1 Hypotrichosis 4 0 1 3 2021-09-29 P0DW85 H2BN1_HUMAN H2BN1 Histone H2B.N 118 14.2 17 Nucleus; Chromosome 0 0 0 2 3 2022-10-12 P0DXC1 SRSP_HUMAN SRSP Splicing regulatory small protein 130 14 Nucleus 0 0 0 1 3 2024-03-27 P11844 CRGA_HUMAN CRYGA Gamma-crystallin A 174 20.9 2 0 0 0 1 3 1989-10-01 P29377 S100G_HUMAN S100G Protein S100-G 79 9 X 0 0 0 1 3 1992-12-01 P42696 RBM34_HUMAN RBM34 RNA-binding protein 34 430 48.6 1 Nucleus 0 0 0 1 3 1995-11-01 P47881 OR3A1_HUMAN OR3A1 Olfactory receptor 3A1 315 34.6 17 Cell membrane 7 0 0 1 3 1996-02-01 P47884 OR1D4_HUMAN OR1D4 Olfactory receptor 1D4 311 35.2 Cell membrane 7 0 0 3 3 1996-02-01 P59539 T2R45_HUMAN TAS2R45 Taste receptor type 2 member 45 299 34.3 Membrane 7 0 0 2 3 2003-04-11 P60985 KTDAP_HUMAN KRTDAP Keratinocyte differentiation-associated protein 99 11.1 19 Secreted 0 0 0 1 3 2004-04-26 P63121 VP113_HUMAN HERVK_113 Endogenous retrovirus group K member 113 Pro protein 156 17.1 0 0 0 3 3 2004-09-13 P63124 VPK04_HUMAN HERV-K104 Endogenous retrovirus group K member 104 Pro protein 156 17.1 0 0 0 3 3 2004-09-13 P63127 VPK9_HUMAN ERVK-9 Endogenous retrovirus group K member 9 Pro protein 156 17.2 0 0 0 3 3 2004-09-13 Q03938 ZNF90_HUMAN ZNF90 Zinc finger protein 90 601 69.1 19 Nucleus 0 0 0 1 3 1994-06-01 Q075Z2 BSPH1_HUMAN BSPH1 Binder of sperm protein homolog 1 132 15.7 19 Secreted 0 0 0 1 3 2008-03-18 Q0VAF6 SYCN_HUMAN SYCN Syncollin 134 14.4 19 Zymogen granule membrane; Zymogen granule lumen 0 0 0 1 3 2007-07-24 Q107X0 KRIP1_HUMAN KLKP1 Putative protein KRIP1 134 14.4 Cytoplasm; Nucleus 0 0 0 5 3 2008-06-10 Q13066 GAG2B_HUMAN GAGE2B G antigen 2B/2C 116 12.8 0 0 0 1 3 1998-07-15 Q14146 URB2_HUMAN URB2 Unhealthy ribosome biogenesis protein 2 homolog 1524 170.5 1 Nucleus 0 0 0 1 3 1997-11-01 Q14586 ZN267_HUMAN ZNF267 Zinc finger protein 267 743 87.4 16 Nucleus 0 0 0 1 3 2000-12-01 Q16557 PSG3_HUMAN PSG3 Pregnancy-specific beta-1-glycoprotein 3 428 47.9 19 Secreted 0 0 0 1 3 2000-05-30 Q17RC7 EX3L4_HUMAN EXOC3L4 Exocyst complex component 3-like protein 4 722 79.9 14 0 0 0 1 3 2007-02-06 Q30KR1 DB109_HUMAN DEFB109B Beta-defensin 109B 87 9.9 8 Secreted 0 0 0 1 3 2005-12-20 Q3LI73 KR194_HUMAN KRTAP19-4 Keratin-associated protein 19-4 84 9.1 21 0 0 0 1 3 2006-02-21 Q4G0Z9 MCMD2_HUMAN MCMDC2 Minichromosome maintenance domain-containing protein 2 681 76.2 8 0 0 0 1 3 2006-10-31 Q58FF3 ENPLL_HUMAN HSP90B2P Putative endoplasmin-like protein 399 45.9 0 0 0 5 3 2008-09-02 Q5CZA5 ZN805_HUMAN ZNF805 Zinc finger protein 805 627 71.1 19 Nucleus 0 0 0 1 3 2007-09-11 Q5FYA8 ARSH_HUMAN ARSH Arylsulfatase H 562 63.5 X 3.1.6.- Membrane 2 0 0 2 3 2007-07-24 Q5H9K5 ZMAT1_HUMAN ZMAT1 Zinc finger matrin-type protein 1 638 74.8 X Nucleus 0 0 0 1 3 2007-11-13 Q5JNZ3 ZN311_HUMAN ZNF311 Zinc finger protein 311 666 76.3 6 Nucleus 0 0 0 1 3 2007-04-03 Q5JV73 FRPD3_HUMAN FRMPD3 FERM and PDZ domain-containing protein 3 1777 195.7 X 0 0 0 1 3 2006-10-31 Q5JVG8 ZN506_HUMAN ZNF506 Zinc finger protein 506 444 51.5 19 Nucleus 0 0 0 1 3 2005-11-22 Q5MCW4 ZN569_HUMAN ZNF569 Zinc finger protein 569 686 79.6 19 Nucleus 0 0 0 1 3 2005-11-08 Q5SNV9 CA167_HUMAN C1orf167 Uncharacterized protein C1orf167 1449 160.5 1 0 0 0 2 3 2007-10-02 Q5SY68 S1A7B_HUMAN S100A7L2 Protein S100-A7-like 2 101 11.3 1 0 0 0 1 3 2007-01-09 Q5SYE7 NHSL1_HUMAN NHSL1 NHS-like protein 1 1610 170.7 6 0 0 0 1 3 2008-06-10 Q5SZD4 GLYL3_HUMAN GLYATL3 Glycine N-acyltransferase-like protein 3 288 32.7 6 2.3.1.13 0 0 0 1 3 2008-05-20 Q5T681 CJ062_HUMAN C10orf62 Uncharacterized protein C10orf62 223 25.1 10 0 0 0 1 3 2007-02-06 Q5TI25 NBPFE_HUMAN NBPF14 NBPF family member NBPF14 2988 343.2 1 Cytoplasm 0 0 0 1 3 2007-05-29 Q5TIE3 VW5B1_HUMAN VWA5B1 von Willebrand factor A domain-containing protein 5B1 1220 133.8 1 Secreted 0 0 0 1 3 2008-03-18 Q5TZJ5 S31A1_HUMAN SPATA31A1 Spermatogenesis-associated protein 31A1 1347 148.6 9 Membrane 1 0 0 1 3 2008-01-15 Q5VSG8 MANEL_HUMAN MANEAL Glycoprotein endo-alpha-1,2-mannosidase-like protein 457 51.3 1 3.2.1.- Golgi apparatus membrane 1 0 0 1 3 2007-04-03 Q5VVM6 CCD30_HUMAN CCDC30 Coiled-coil domain-containing protein 30 783 91.3 1 0 0 0 1 3 2008-05-20 Q5VWK0 NBPF6_HUMAN NBPF6 NBPF family member NBPF6 638 72.2 1 Cytoplasm 0 0 0 2 3 2007-05-29 Q5VYV0 FOXB2_HUMAN FOXB2 Forkhead box protein B2 432 45.6 9 Nucleus 0 0 0 1 3 2006-12-12 Q5VZ19 TDR10_HUMAN TDRD10 Tudor domain-containing protein 10 366 40.9 1 0 0 0 1 3 2007-01-09 Q63HM9 PLCX3_HUMAN PLCXD3 PI-PLC X domain-containing protein 3 321 36.3 5 Cytoplasm 0 0 0 1 3 2007-10-02 Q658N2 WSCD1_HUMAN WSCD1 Sialate:O-sulfotransferase 1 575 65.7 17 Golgi apparatus membrane 1 0 0 1 3 2007-10-02 Q68CR1 SE1L3_HUMAN SEL1L3 Protein sel-1 homolog 3 1132 128.6 4 Membrane 1 0 0 1 3 2008-02-26 Q6B0B8 TIGD3_HUMAN TIGD3 Tigger transposable element-derived protein 3 471 52 11 Nucleus 0 0 0 1 3 2007-01-09 Q6BEB4 SP5_HUMAN SP5 Transcription factor Sp5 398 42 2 Nucleus 0 0 0 1 3 2005-11-22 Q6GPI1 CTRB2_HUMAN CTRB2 Chymotrypsinogen B2 263 27.9 16 3.4.21.1 Secreted 0 0 0 1 3 2007-05-01 Q6IEV9 OR4CB_HUMAN OR4C11 Olfactory receptor 4C11 310 35 11 Cell membrane 7 0 0 2 3 2005-12-20 Q6IF36 O8G2P_HUMAN OR8G2P Olfactory receptor 8G2 304 34 Cell membrane 7 0 0 2 3 2015-04-29 Q6IF42 OR2A2_HUMAN OR2A2 Olfactory receptor 2A2 318 35.8 7 Cell membrane 7 0 0 2 3 2005-12-20 Q6IF99 O10K2_HUMAN OR10K2 Olfactory receptor 10K2 312 35 1 Cell membrane 7 0 0 3 3 2005-10-25 Q6IN97 FRP2L_HUMAN FRMPD2B Putative protein FRMPD2-like 320 35.2 0 0 0 5 3 2007-10-02 Q6IPX1 TBC3C_HUMAN TBC1D3C TBC1 domain family member 3C 549 62.2 17 Cell membrane 0 0 0 2 3 2007-09-11 Q6IPX3 TCAL6_HUMAN TCEAL6 Transcription elongation factor A protein-like 6 200 22.3 X Nucleus 0 0 0 1 3 2006-05-30 Q6JVE9 LCN8_HUMAN LCN8 Epididymal-specific lipocalin-8 175 19.1 9 Secreted 0 0 0 1 3 2005-03-29 Q6NT04 TIGD7_HUMAN TIGD7 Tigger transposable element-derived protein 7 549 63.2 16 Nucleus 0 0 0 1 3 2007-01-23 Q6P5X7 TMM71_HUMAN TMEM71 Transmembrane protein 71 295 33 8 Membrane 2 0 0 1 3 2007-02-20 Q6P995 F171B_HUMAN FAM171B Protein FAM171B 826 92.2 2 Cytoplasmic granule; Membrane 1 0 0 1 3 2007-05-15 Q6PEX7 TEX38_HUMAN TEX38 Testis-expressed protein 38 206 23.3 1 Cell membrane 1 0 0 1 3 2008-02-26 Q6PI47 KCD18_HUMAN KCTD18 BTB/POZ domain-containing protein KCTD18 426 46.7 2 0 0 0 1 3 2006-09-05 Q6PID6 TTC33_HUMAN TTC33 Tetratricopeptide repeat protein 33 262 29.4 5 0 0 0 1 3 2007-05-15 Q6PII5 HAGHL_HUMAN HAGHL Hydroxyacylglutathione hydrolase-like protein 290 31.6 16 3.1.2.- 0 0 0 1 3 2008-01-15 Q6PK81 ZN773_HUMAN ZNF773 Zinc finger protein 773 442 50.5 19 Nucleus 0 0 0 1 3 2007-05-01 Q6Q6R5 CRIP3_HUMAN CRIP3 Cysteine-rich protein 3 217 24.1 6 Cytoplasm 0 0 0 1 3 2006-03-07 Q6U949 IG2AS_HUMAN IGF2-AS Putative insulin-like growth factor 2 antisense gene protein 168 18 0 0 0 1 3 2006-01-10 Q6UW01 CBLN3_HUMAN CBLN3 Cerebellin-3 205 21.5 14 Endoplasmic reticulum; Golgi apparatus; Secreted; Synapse 0 0 0 1 3 2004-09-27 Q6UWJ8 C16L2_HUMAN CD164L2 CD164 sialomucin-like 2 protein 174 18.4 1 Membrane 1 0 0 1 3 2006-01-24 Q6UWP8 SBSN_HUMAN SBSN Suprabasin 590 60.5 19 Secreted 0 0 0 1 3 2008-02-05 Q6UWY5 OLFL1_HUMAN OLFML1 Olfactomedin-like protein 1 402 46 11 Secreted 0 0 0 1 3 2004-07-19 Q6UXD7 S49A3_HUMAN SLC49A3 Solute carrier family 49 member A3 560 58.4 4 Membrane 12 0 0 1 3 2007-01-23 Q6UXF7 CL18B_HUMAN CLEC18B C-type lectin domain family 18 member B 455 50.5 16 Secreted; Endoplasmic reticulum; Golgi apparatus; Endosome 0 0 0 2 3 2008-03-18 Q6UXY8 TMC5_HUMAN TMC5 Transmembrane channel-like protein 5 1006 114.8 16 Membrane 10 0 0 1 3 2007-05-29 Q6XE38 SG1D4_HUMAN SCGB1D4 Secretoglobin family 1D member 4 83 9.2 11 Secreted 0 0 0 1 3 2004-11-09 Q6ZN01 MASTR_HUMAN MAMSTR MEF2-activating motif and SAP domain-containing transcriptional regulator 415 44.6 19 Nucleus 0 0 0 1 3 2008-02-26 Q6ZN19 ZN841_HUMAN ZNF841 Zinc finger protein 841 808 93.1 19 Nucleus 0 0 0 1 3 2008-05-20 Q6ZN32 ETV3L_HUMAN ETV3L ETS translocation variant 3-like protein 361 39.9 1 Nucleus 0 0 0 1 3 2008-03-18 Q6ZNF0 ACP7_HUMAN ACP7 Acid phosphatase type 7 438 50.5 19 3.1.3.2 Secreted 0 0 0 1 3 2008-02-05 Q6ZNG2 DBX2_HUMAN DBX2 Homeobox protein DBX2 339 36.6 12 Nucleus 0 0 0 1 3 2007-09-11 Q6ZNG9 KRBD2_HUMAN KRABD2 KRAB domain-containing protein 2 492 56.2 17 0 0 0 1 3 2007-09-11 Q6ZRF7 ZN818_HUMAN ZNF818P Putative zinc finger protein 818 136 15.5 Nucleus 0 0 0 5 3 2007-07-10 Q6ZRS4 ITPI1_HUMAN ITPRID1 Protein ITPRID1 1044 115.4 7 0 0 0 1 3 2007-01-09 Q6ZT07 TBCD9_HUMAN TBC1D9 TBC1 domain family member 9 1266 143.2 4 0 0 0 1 3 2007-05-29 Q6ZU67 BEND4_HUMAN BEND4 BEN domain-containing protein 4 534 58.4 4 0 0 0 1 3 2005-12-06 Q6ZVC0 NYAP1_HUMAN NYAP1 Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 1 841 87.9 7 0 0 0 1 3 2008-02-26 Q6ZVZ8 ASB18_HUMAN ASB18 Ankyrin repeat and SOCS box protein 18 466 50.8 2 0 0 0 2 3 2007-12-04 Q7L985 LIGO2_HUMAN LINGO2 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2 606 68.1 9 Membrane 1 0 0 1 3 2008-03-18 Q7RTT6 SSX6_HUMAN SSX6P Putative protein SSX6 188 21.7 0 0 0 5 3 2006-03-21 Q7RTV5 PXL2C_HUMAN PRXL2C Peroxiredoxin-like 2C 226 24.9 9 0 0 0 1 3 2004-04-13 Q7RTY3 PRS45_HUMAN PRSS45P Putative serine protease 45 260 29.3 3 3.4.21.- 0 0 0 5 3 2008-09-02 Q7Z2Q7 LRR70_HUMAN LRRC70 Leucine-rich repeat-containing protein 70 622 70.3 5 Membrane 1 0 0 1 3 2008-02-05 Q7Z2Y8 GVIN1_HUMAN GVINP1 Interferon-induced very large GTPase 1 2422 279 Cytoplasm; Nucleus 0 0 0 1 3 2008-03-18 Q7Z4L9 PPR42_HUMAN PPP1R42 Protein phosphatase 1 regulatory subunit 42 309 35.5 8 Cytoplasm 0 0 0 2 3 2008-03-18 Q7Z5A4 PRS42_HUMAN PRSS42P Putative serine protease 42 293 32 3.4.21.- Cytoplasm; Cell membrane 0 0 0 5 3 2008-09-02 Q7Z5A9 TAFA1_HUMAN TAFA1 Chemokine-like protein TAFA-1 133 14.9 3 Secreted 0 0 0 1 3 2005-11-08 Q7Z6M2 FBX33_HUMAN FBXO33 F-box only protein 33 555 62.6 14 0 0 0 1 3 2004-08-16 Q7Z736 PKHH3_HUMAN PLEKHH3 Pleckstrin homology domain-containing family H member 3 793 85.3 17 0 0 0 1 3 2007-11-13 Q86TA1 MOB3B_HUMAN MOB3B MOB kinase activator 3B 216 25.5 9 0 0 0 1 3 2004-12-21 Q86V87 FHI2B_HUMAN FHIP2B FHF complex subunit HOOK-interacting protein 2B 743 82.3 8 0 0 0 1 3 2007-04-17 Q86VZ2 WDR5B_HUMAN WDR5B WD repeat-containing protein 5B 330 36.3 3 Nucleus 0 0 0 1 3 2007-02-20 Q86WR6 CHCT1_HUMAN CHCT1 CHD1 helical C-terminal domain containing protein 1 236 27.2 17 Cytoplasm; Nucleus 0 0 0 1 3 2007-05-15 Q86YG4 NT5D4_HUMAN NT5DC4 5'-nucleotidase domain-containing protein 4 428 49 2 0 0 0 1 3 2008-07-22 Q8IUS5 EPHX4_HUMAN EPHX4 Epoxide hydrolase 4 362 42.3 1 3.3.-.- Membrane 1 0 0 1 3 2007-03-20 Q8IV42 PSTK_HUMAN PSTK L-seryl-tRNA(Sec) kinase 348 39.5 10 2.7.1.164 0 0 0 1 3 2005-08-16 Q8IVF6 AN18A_HUMAN ANKRD18A Ankyrin repeat domain-containing protein 18A 992 115.6 9 0 0 0 1 3 2003-12-15 Q8IVU9 CBCO1_HUMAN CABCOCO1 Ciliary-associated calcium-binding coiled-coil protein 1 208 23.9 10 Cytoplasm; Cell projection 0 0 0 1 3 2005-07-19 Q8IXE1 OR4N5_HUMAN OR4N5 Olfactory receptor 4N5 308 34.7 14 Cell membrane 7 0 0 3 3 2003-09-26 Q8IXT2 DMRTD_HUMAN DMRTC2 Doublesex- and mab-3-related transcription factor C2 367 39.1 19 Nucleus 0 0 0 1 3 2006-06-27 Q8IYS8 BD1L2_HUMAN BOD1L2 Biorientation of chromosomes in cell division protein 1-like 2 172 18.1 18 Cytoplasm; Chromosome 0 0 0 1 3 2005-11-22 Q8IZ81 ELMD2_HUMAN ELMOD2 ELMO domain-containing protein 2 293 35 4 0 0 0 1 3 2006-03-07 Q8IZU2 WDR17_HUMAN WDR17 WD repeat-containing protein 17 1322 147.7 4 0 0 0 1 3 2004-05-24 Q8N0Y3 OR4N4_HUMAN OR4N4 Olfactory receptor 4N4 316 35.7 15 Cell membrane 7 0 0 2 3 2003-10-10 Q8N129 CNPY4_HUMAN CNPY4 Protein canopy homolog 4 248 28.3 7 Secreted 0 0 0 1 3 2008-01-15 Q8N1N0 CLC4F_HUMAN CLEC4F C-type lectin domain family 4 member F 589 65.5 2 Membrane 1 0 0 2 3 2005-02-15 Q8N1W2 ZN710_HUMAN ZNF710 Zinc finger protein 710 664 74.5 15 Nucleus 0 0 0 1 3 2006-05-02 Q8N328 PGBD3_HUMAN PGBD3 PiggyBac transposable element-derived protein 3 593 67.6 Nucleus 0 0 0 1 3 2007-05-29 Q8N3H0 TAFA2_HUMAN TAFA2 Chemokine-like protein TAFA-2 131 14.6 12 Cytoplasm; Nucleus 0 0 0 1 3 2005-11-08 Q8N3S3 PHTF2_HUMAN PHTF2 Protein PHTF2 785 88.8 7 Membrane 7 0 0 1 3 2008-02-05 Q8N434 SVOPL_HUMAN SVOPL Putative transporter SVOPL 492 54 7 Membrane 10 0 0 1 3 2007-07-10 Q8N468 S60A1_HUMAN SLC60A1 Solute carrier family 60 member 1 514 56.3 1 Membrane 12 0 0 1 3 2007-01-23 Q8N4B4 FBX39_HUMAN FBXO39 F-box only protein 39 442 52.6 17 0 0 0 1 3 2004-08-31 Q8N4F7 RN175_HUMAN RNF175 RING finger protein 175 328 38.3 4 Membrane 5 0 0 1 3 2006-07-11 Q8N4V2 SVOP_HUMAN SVOP Synaptic vesicle 2-related protein 548 60.8 12 Cytoplasmic vesicle 12 0 0 1 3 2007-03-06 Q8N660 NBPFF_HUMAN NBPF15 NBPF family member NBPF15 670 77.6 1 Cytoplasm 0 0 0 2 3 2007-05-29 Q8N687 DB125_HUMAN DEFB125 Beta-defensin 125 156 17.5 20 Secreted 0 0 0 2 3 2002-12-06 Q8N6M5 ALLC_HUMAN ALLC Probable inactive allantoicase 391 43.6 2 0 0 0 1 3 2005-09-13 Q8N6M9 ZFN2A_HUMAN ZFAND2A AN1-type zinc finger protein 2A 145 16.5 7 Cytoplasm; Nucleus 0 0 0 1 3 2007-01-09 Q8N6N6 NATD1_HUMAN NATD1 Protein NATD1 113 13 17 0 0 0 1 3 2008-02-26 Q8N7C4 TM217_HUMAN TMEM217 Transmembrane protein 217 229 26.6 6 Cell projection 4 0 0 1 3 2005-07-05 Q8N7S2 DNJ5G_HUMAN DNAJC5G DnaJ homolog subfamily C member 5G 189 21.4 2 Membrane 0 0 0 2 3 2004-07-19 Q8N7Z5 ANR31_HUMAN ANKRD31 Ankyrin repeat domain-containing protein 31 1873 210.8 5 Nucleus; Chromosome 0 0 0 1 3 2008-04-08 Q8N8Z6 DCBD1_HUMAN DCBLD1 Discoidin, CUB and LCCL domain-containing protein 1 715 77.9 6 Membrane 1 0 0 1 3 2004-07-19 Q8N972 ZN709_HUMAN ZNF709 Zinc finger protein 709 641 74.7 19 Nucleus 0 0 0 1 3 2006-04-04 Q8N9F8 ZN454_HUMAN ZNF454 Zinc finger protein 454 522 60 5 Nucleus 0 0 0 1 3 2003-10-24 Q8N9K5 ZN565_HUMAN ZNF565 Zinc finger protein 565 539 62.4 19 Nucleus 0 0 0 1 3 2005-12-06 Q8N9V7 TOPZ1_HUMAN TOPAZ1 Protein TOPAZ1 1692 190.9 3 Cytoplasm 0 0 0 1 3 2008-02-26 Q8NA69 SAXO5_HUMAN SAXO5 Stabilizer of axonemal microtubules 5 505 57.3 19 0 0 0 1 3 2007-08-21 Q8NB42 ZN527_HUMAN ZNF527 Zinc finger protein 527 609 70.9 19 Nucleus 0 0 0 1 3 2005-12-06 Q8NB46 ANR52_HUMAN ANKRD52 Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit C 1076 115.1 12 0 0 0 1 3 2006-06-27 Q8NBE8 KLH23_HUMAN KLHL23 Kelch-like protein 23 558 63.9 2 0 0 0 1 3 2006-06-27 Q8NC74 RB8NL_HUMAN RBBP8NL RBBP8 N-terminal-like protein 664 71.4 20 0 0 0 1 3 2003-10-10 Q8NCR9 CLRN3_HUMAN CLRN3 Clarin-3 226 25.3 10 Membrane 4 0 0 1 3 2007-02-06 Q8NCX0 CC150_HUMAN CCDC150 Coiled-coil domain-containing protein 150 1101 128.8 2 0 0 0 1 3 2008-04-08 Q8NDY3 ARHL1_HUMAN ADPRHL1 Inactive ADP-ribosyltransferase ARH2 354 40.1 13 Cytoplasm 0 0 0 1 3 2007-02-06 Q8NEG7 DEN6B_HUMAN DENND6B Protein DENND6B 585 66.5 22 Recycling endosome; Cytoplasm 0 0 0 1 3 2006-12-12 Q8NEM1 ZN680_HUMAN ZNF680 Zinc finger protein 680 530 61.8 7 Nucleus 0 0 0 1 3 2006-05-02 Q8NFV5 SPDE1_HUMAN SPDYE1 Speedy protein E1 336 40.7 7 0 0 0 2 3 2008-02-26 Q8NG77 O2T12_HUMAN OR2T12 Olfactory receptor 2T12 320 35.9 1 Cell membrane 7 0 0 3 3 2005-07-19 Q8NGB6 OR4M2_HUMAN OR4M2 Olfactory receptor 4M2 313 35.4 15 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGC1 O11G2_HUMAN OR11G2 Olfactory receptor 11G2 345 38.9 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGC2 OR4E2_HUMAN OR4E2 Olfactory receptor 4E2 313 35.5 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGD1 OR4N2_HUMAN OR4N2 Olfactory receptor 4N2 307 34.7 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGE0 O10AD_HUMAN OR10AD1 Olfactory receptor 10AD1 317 35.7 12 Cell membrane 7 0 0 2 3 2003-10-31 Q8NGG4 OR8H1_HUMAN OR8H1 Olfactory receptor 8H1 311 35.2 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGG7 OR8A1_HUMAN OR8A1 Olfactory receptor 8A1 326 36.4 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGH9 O52E4_HUMAN OR52E4 Olfactory receptor 52E4 312 35.5 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGI4 OR4DB_HUMAN OR4D11 Olfactory receptor 4D11 311 35 11 Cell membrane 7 0 0 3 3 2005-07-19 Q8NGI7 O10V1_HUMAN OR10V1 Olfactory receptor 10V1 309 34.7 11 Cell membrane 7 0 0 3 3 2003-09-26 Q8NGI9 OR5A2_HUMAN OR5A2 Olfactory receptor 5A2 324 36 11 Cell membrane 7 0 0 2 3 2003-09-26 Q8NGJ4 O52E2_HUMAN OR52E2 Olfactory receptor 52E2 325 36.6 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGJ7 O51A2_HUMAN OR51A2 Olfactory receptor 51A2 313 35.1 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGK0 O51G2_HUMAN OR51G2 Olfactory receptor 51G2 314 35 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGK4 O52K1_HUMAN OR52K1 Olfactory receptor 52K1 314 35.2 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGL7 OR4P4_HUMAN OR4P4 Olfactory receptor 4P4 312 35.8 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGN2 O10S1_HUMAN OR10S1 Olfactory receptor 10S1 331 36.5 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGR5 OR1L4_HUMAN OR1L4 Olfactory receptor 1L4 311 35.3 9 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGS4 O13F1_HUMAN OR13F1 Olfactory receptor 13F1 319 35.6 9 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGS7 O13C8_HUMAN OR13C8 Olfactory receptor 13C8 320 35.3 9 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGT2 O13J1_HUMAN OR13J1 Olfactory receptor 13J1 312 34.7 9 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGU4 OR2I1_HUMAN OR2I1 Putative olfactory receptor 2I1 315 34.1 6 Cell membrane 7 0 0 5 3 2003-10-10 Q8NGV5 O13D1_HUMAN OR13D1 Olfactory receptor 13D1 346 39.1 9 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGX9 OR6P1_HUMAN OR6P1 Olfactory receptor 6P1 317 35.8 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGY5 OR6N1_HUMAN OR6N1 Olfactory receptor 6N1 312 34.9 1 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGZ2 O14K1_HUMAN OR14K1 Olfactory receptor 14K1 314 34.9 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGZ4 OR2G3_HUMAN OR2G3 Olfactory receptor 2G3 309 34.5 1 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGZ5 OR2G2_HUMAN OR2G2 Olfactory receptor 2G2 317 35.6 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH01 O2T11_HUMAN OR2T11 Olfactory receptor 2T11 316 34.8 1 Cell membrane 7 0 0 2 3 2003-11-21 Q8NH04 O2T27_HUMAN OR2T27 Olfactory receptor 2T27 317 35.5 1 Cell membrane 7 0 0 3 3 2005-08-16 Q8NH07 O11H2_HUMAN OR11H2 Olfactory receptor 11H2 326 36.5 14 Cell membrane 7 0 0 3 3 2008-04-29 Q8NH18 OR5J2_HUMAN OR5J2 Olfactory receptor 5J2 312 34.8 11 Cell membrane 7 0 0 3 3 2003-11-14 Q8NH37 OR4C3_HUMAN OR4C3 Olfactory receptor 4C3 302 33.7 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH40 OR6S1_HUMAN OR6S1 Olfactory receptor 6S1 331 36.1 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH42 OR4KD_HUMAN OR4K13 Olfactory receptor 4K13 304 34.3 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH54 O56A3_HUMAN OR56A3 Olfactory receptor 56A3 315 35.6 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH60 O52J3_HUMAN OR52J3 Olfactory receptor 52J3 311 35.1 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH70 O4A16_HUMAN OR4A16 Olfactory receptor 4A16 328 36.9 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH72 OR4C6_HUMAN OR4C6 Olfactory receptor 4C6 309 34.6 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NHV5 MOSMO_HUMAN MOSMO Modulator of smoothened protein 167 18.3 16 Cell projection; Cell membrane 4 0 0 2 3 2007-01-09 Q8TAF7 ZN461_HUMAN ZNF461 Zinc finger protein 461 563 66.2 19 Nucleus 0 0 0 1 3 2003-02-01 Q8TBR7 TLC3A_HUMAN TLCD3A TLC domain-containing protein 3A 257 29.4 17 Cell membrane 7 0 0 1 3 2003-08-29 Q8TCP9 ZBD8L_HUMAN ZBED8L Protein ZBED8L 573 66.3 7 Membrane 1 0 0 1 3 2007-03-06 Q8TD55 PKHO2_HUMAN PLEKHO2 Pleckstrin homology domain-containing family O member 2 490 53.4 15 0 0 0 1 3 2007-11-13 Q8TE96 DQX1_HUMAN DQX1 ATP-dependent RNA helicase homolog DQX1 717 79.5 2 Nucleus 0 0 0 1 3 2007-04-17 Q8TEE9 SAP25_HUMAN SAP25 Histone deacetylase complex subunit SAP25 199 20.9 7 Nucleus; Cytoplasm 0 0 0 1 3 2008-09-23 Q8WTP9 XAGE3_HUMAN XAGE3 X antigen family member 3 111 12.3 X 0 0 0 1 3 2003-01-17 Q8WUY8 NAT14_HUMAN NAT14 Probable N-acetyltransferase 14 206 21.7 19 2.3.1.- Membrane 1 0 0 1 3 2007-10-23 Q8WV15 T255B_HUMAN TMEM255B Transmembrane protein 255B 326 34.6 13 Membrane 4 0 0 1 3 2006-12-12 Q8WW18 CQ050_HUMAN C17orf50 Uncharacterized protein C17orf50 174 19.3 17 0 0 0 1 3 2006-10-03 Q8WW27 ABEC4_HUMAN APOBEC4 Putative deaminase APOBEC-4 367 41.6 1 3.5.4.- 0 0 0 1 3 2006-06-13 Q8WW52 F151A_HUMAN FAM151A Protein FAM151A 585 64 1 Membrane 1 0 0 1 3 2007-11-13 Q8WXF5 CRGN_HUMAN CRYGN Gamma-crystallin N 182 20.6 7 0 0 0 2 3 2007-11-13 Q8WZ33 MAFIP_HUMAN MAFIP MaFF-interacting protein 124 13.9 14 Cytoplasm; Nucleus 0 0 0 1 3 2008-09-02 Q93083 MT1L_HUMAN MT1L Metallothionein-1L 61 6.1 0 0 0 1 3 1997-11-01 Q969M1 TM40L_HUMAN TOMM40L Mitochondrial import receptor subunit TOM40B 308 33.9 1 Mitochondrion outer membrane 0 0 0 1 3 2006-02-07 Q969Q0 RL36L_HUMAN RPL36AL Ribosomal protein eL42-like 106 12.5 14 Cytoplasm 0 0 0 1 3 2005-01-04 Q969W3 VCF1_HUMAN VCF1 Protein VCF1 186 19.5 17 0 0 0 1 3 2006-05-16 Q96BQ5 CC127_HUMAN CCDC127 Coiled-coil domain-containing protein 127 260 30.8 5 Mitochondrion outer membrane 0 0 0 1 3 2006-12-12 Q96C34 RUND1_HUMAN RUNDC1 RUN domain-containing protein 1 613 67.6 17 0 0 0 1 3 2007-04-17 Q96C57 CSTOS_HUMAN CUSTOS Protein CUSTOS 262 28.2 12 Nucleus envelope 0 0 0 1 3 2007-02-06 Q96CT2 KLH29_HUMAN KLHL29 Kelch-like protein 29 875 94.2 2 0 0 0 1 3 2004-05-24 Q96DS6 M4A6E_HUMAN MS4A6E Membrane-spanning 4-domains subfamily A member 6E 147 15.9 11 Membrane 2 0 0 1 3 2003-05-09 Q96H40 ZN486_HUMAN ZNF486 Zinc finger protein 486 463 53.6 19 Nucleus 0 0 0 1 3 2004-08-16 Q96HP4 OXND1_HUMAN OXNAD1 Oxidoreductase NAD-binding domain-containing protein 1 312 34.9 3 1.-.-.- 0 0 0 1 3 2007-09-11 Q96JQ2 CLMN_HUMAN CLMN Calmin 1002 111.7 14 Membrane 1 0 0 1 3 2003-07-11 Q96KW9 SPAC7_HUMAN SPACA7 Sperm acrosome-associated protein 7 195 21.5 13 Secreted; Cytoplasmic vesicle 0 0 0 1 3 2007-02-06 Q96LP2 FA81B_HUMAN FAM81B Protein FAM81B 452 52 5 0 0 0 1 3 2006-12-12 Q96M43 NBPF4_HUMAN NBPF4 NBPF family member NBPF4 638 72.1 1 Cytoplasm 0 0 0 2 3 2007-05-29 Q96MF6 CQ10A_HUMAN COQ10A Coenzyme Q-binding protein COQ10 homolog A, mitochondrial 247 27.7 12 Mitochondrion inner membrane 0 0 0 1 3 2006-03-21 Q96MS3 GL1D1_HUMAN GLT1D1 Glycosyltransferase 1 domain-containing protein 1 346 38.5 12 2.4.-.- Secreted 0 0 0 1 3 2007-12-04 Q96MY1 NOL4L_HUMAN NOL4L Nucleolar protein 4-like 436 47.2 20 0 0 0 1 3 2003-02-01 Q96N20 ZN75A_HUMAN ZNF75A Zinc finger protein 75A 296 34.7 16 Nucleus 0 0 0 1 3 2005-07-05 Q96N38 ZN714_HUMAN ZNF714 Zinc finger protein 714 554 63.9 Nucleus 0 0 0 1 3 2008-04-29 Q96NJ3 ZN285_HUMAN ZNF285 Zinc finger protein 285 590 68.1 19 Nucleus 0 0 0 1 3 2004-11-23 Q96NJ6 ZFP3_HUMAN ZFP3 Zinc finger protein 3 homolog 502 57.7 17 Nucleus 0 0 0 1 3 2006-05-02 Q96NS5 ASB16_HUMAN ASB16 Ankyrin repeat and SOCS box protein 16 453 49.6 17 0 0 0 1 3 2002-05-10 Q96P88 GNRR2_HUMAN GNRHR2 Putative gonadotropin-releasing hormone II receptor 292 32.5 Cell membrane 5 0 0 5 3 2003-02-12 Q96PI1 SPRR4_HUMAN SPRR4 Small proline-rich protein 4 79 8.8 1 Cytoplasm 0 0 0 1 3 2003-10-10 Q96QS1 TSN32_HUMAN TSPAN32 Tetraspanin-32 320 34.6 11 Membrane 4 0 0 1 3 2002-03-27 Q96R27 OR2M4_HUMAN OR2M4 Olfactory receptor 2M4 311 35.1 1 Cell membrane 7 0 0 1 3 2003-10-10 Q96R69 OR4F4_HUMAN OR4F4 Olfactory receptor 4F4 305 34.3 Cell membrane 7 0 0 2 3 2003-10-10 Q96R84 OR1F2_HUMAN OR1F2P Putative olfactory receptor 1F2 312 34.9 Cell membrane 7 0 0 5 3 2003-10-10 Q96RD3 O52E6_HUMAN OR52E6 Olfactory receptor 52E6 313 35.5 11 Cell membrane 7 0 0 3 3 2002-05-10 Q99445 GML_HUMAN GML Glycosyl-phosphatidylinositol-anchored molecule-like protein 158 17.7 8 Cell membrane 0 0 0 1 3 1998-07-15 Q99463 NPY6R_HUMAN NPY6RP Putative neuropeptide Y receptor type 6 290 33.2 Membrane 6 0 0 5 3 2008-09-02 Q99470 SDF2_HUMAN SDF2 Stromal cell-derived factor 2 211 23 17 Secreted 0 0 0 1 3 2002-06-20 Q9BQE6 LBHD1_HUMAN LBHD1 LBH domain-containing protein 1 289 31.6 11 0 0 0 1 3 2007-04-17 Q9BQS6 HSPB9_HUMAN HSPB9 Heat shock protein beta-9 159 17.5 17 Cytoplasm; Nucleus 0 0 0 1 3 2004-04-26 Q9BSK0 MALD1_HUMAN MARVELD1 MARVEL domain-containing protein 1 173 18.9 10 Cell membrane; Cytoplasm; Nucleus 4 0 0 1 3 2007-01-09 Q9BUA6 MYL10_HUMAN MYL10 Myosin regulatory light chain 10 226 25.3 7 0 0 0 1 3 2008-02-26 Q9BVV8 F174C_HUMAN FAM174C Protein FAM174C 132 14.2 19 Membrane 1 0 0 1 3 2005-08-30 Q9BX51 GGTL1_HUMAN GGTLC1 Glutathione hydrolase light chain 1 225 24.3 20 0 0 0 1 3 2003-08-29 Q9BX73 TM2D2_HUMAN TM2D2 TM2 domain-containing protein 2 214 22.9 8 Membrane 2 0 0 1 3 2007-09-11 Q9BXE9 VN1R3_HUMAN VN1R3 Vomeronasal type-1 receptor 3 311 34.7 Cell membrane 7 0 0 2 3 2005-07-05 Q9BXM9 FSD1L_HUMAN FSD1L FSD1-like protein 530 59.6 9 0 0 0 1 3 2004-11-23 Q9BY60 GBRL3_HUMAN GABARAPL3 Gamma-aminobutyric acid receptor-associated protein-like 3 117 14 Cytoplasm; Cytoplasmic vesicle 0 0 0 2 3 2004-03-01 Q9BY71 LRRC3_HUMAN LRRC3 Leucine-rich repeat-containing protein 3 257 28.1 21 Membrane 1 0 0 1 3 2001-10-18 Q9BYD9 ACTT3_HUMAN ACTRT3 Actin-related protein T3 372 41 3 Cytoplasm; Nucleus 0 0 0 1 3 2004-05-10 Q9BYE4 SPR2G_HUMAN SPRR2G Small proline-rich protein 2G 73 8.2 1 Cytoplasm 0 0 0 1 3 2004-03-15 Q9BYT5 KRA22_HUMAN KRTAP2-2 Keratin-associated protein 2-2 123 13 17 0 0 0 2 3 2008-04-29 Q9BZE3 BARH1_HUMAN BARHL1 BarH-like 1 homeobox protein 327 35.1 9 Nucleus 0 0 0 1 3 2003-03-25 Q9C0I3 CCSE1_HUMAN CCSER1 Serine-rich coiled-coil domain-containing protein 1 900 99.5 4 0 0 0 1 3 2008-09-02 Q9GZP8 IMUP_HUMAN IMUP Immortalization up-regulated protein 106 10.9 19 Nucleus 0 0 0 1 3 2003-08-04 Q9GZW5 SCND2_HUMAN SCAND2P Putative SCAN domain-containing protein SCAND2P 306 34.2 Nucleus 0 0 0 5 3 2003-04-11 Q9H322 VCX2_HUMAN VCX2 Variable charge X-linked protein 2 139 14.7 X 0 0 0 1 3 2001-11-16 Q9H344 O51I2_HUMAN OR51I2 Olfactory receptor 51I2 312 35 11 Cell membrane 7 0 0 2 3 2001-06-20 Q9H425 CA198_HUMAN C1orf198 Uncharacterized protein C1orf198 327 36.3 1 Cytoplasm 0 0 0 1 3 2007-03-20 Q9H4I0 RD21L_HUMAN RAD21L1 Double-strand-break repair protein rad21-like protein 1 556 63.3 20 Nucleus; Chromosome 0 0 0 1 3 2008-02-26 Q9H939 PPIP2_HUMAN PSTPIP2 Proline-serine-threonine phosphatase-interacting protein 2 334 38.9 18 Cytoplasm; Membrane 0 0 0 1 3 2002-11-15 Q9HBF5 ST20_HUMAN ST20 Suppressor of tumorigenicity 20 protein 79 9 15 0 0 0 1 3 2008-06-10 Q9NNX9 VCX3_HUMAN VCX3A Variable charge X-linked protein 3 186 20 X 0 0 0 2 3 2001-11-16 Q9NNZ6 PRM3_HUMAN PRM3 Protamine-3 103 11.3 16 Nucleus; Chromosome 0 0 0 1 3 2006-11-28 Q9NQF3 SERHL_HUMAN SERHL Serine hydrolase-like protein 203 22.5 3.1.-.- 0 0 0 5 3 2002-06-06 Q9NRD0 FBX8_HUMAN FBXO8 F-box only protein 8 319 37.1 4 0 0 0 1 3 2001-02-21 Q9NS67 GPR27_HUMAN GPR27 Probable G protein-coupled receptor 27 375 39.8 3 Cell membrane 7 0 0 1 3 2001-08-14 Q9NXH8 TOR4A_HUMAN TOR4A Torsin-4A 423 46.9 9 Membrane 1 0 0 1 3 2007-05-15 Q9NZP0 OR6C3_HUMAN OR6C3 Olfactory receptor 6C3 311 35.5 12 Cell membrane 7 0 0 3 3 2003-10-10 Q9P215 POGK_HUMAN POGK Pogo transposable element with KRAB domain 609 69.4 1 Nucleus 0 0 0 1 3 2004-04-26 Q9UF02 CCG5_HUMAN CACNG5 Voltage-dependent calcium channel gamma-5 subunit 275 30.9 17 Membrane; Postsynaptic density membrane 4 0 0 1 3 2000-12-01 Q9UG63 ABCF2_HUMAN ABCF2 ATP-binding cassette sub-family F member 2 623 71.3 7 0 0 0 1 3 2001-01-24 Q9UJG1 MSPD1_HUMAN MOSPD1 Motile sperm domain-containing protein 1 213 24.1 X Endoplasmic reticulum membrane; Golgi apparatus membrane 2 0 0 1 3 2005-06-07 Q9UK12 ZN222_HUMAN ZNF222 Zinc finger protein 222 451 52.5 19 Nucleus 0 0 0 1 3 2000-12-01 Q9UK28 TM59L_HUMAN TMEM59L Transmembrane protein 59-like 342 37.6 19 Golgi apparatus membrane 1 0 0 1 3 2001-09-26 Q9ULL0 K1210_HUMAN KIAA1210 Acrosomal protein KIAA1210 1709 187 X Cytoplasmic vesicle 0 0 0 1 3 2005-09-27 Q9Y485 DMXL1_HUMAN DMXL1 DmX-like protein 1 3027 337.8 5 Lysosome 0 0 0 1 3 2006-03-07 Q9Y4A9 O10H1_HUMAN OR10H1 Olfactory receptor 10H1 318 35.3 19 Cell membrane 7 0 0 2 3 2001-06-20 Q9Y534 CSDC2_HUMAN CSDC2 Cold shock domain-containing protein C2 153 16.8 22 Nucleus; Cytoplasm 0 0 0 1 3 2003-06-16 Q9Y581 INSL6_HUMAN INSL6 Insulin-like peptide INSL6 213 24.9 9 Secreted 0 0 0 1 3 2000-12-01 Q9Y6Z4 KIAS1_HUMAN KIF25-AS1 Putative uncharacterized protein KIF25-AS1 181 19.4 0 0 0 5 3 2003-05-09 A0A075B6I9 LV746_HUMAN IGLV7-46 Immunoglobulin lambda variable 7-46 117 12.5 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6J1 LV537_HUMAN IGLV5-37 Immunoglobulin lambda variable 5-37 123 13.3 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6R0 TRGV2_HUMAN TRGV2 T cell receptor gamma variable 2 118 13.3 7 Cell membrane 0 0 0 1 3 2019-01-16 A0A075B6S2 KVD29_HUMAN IGKV2D-29 Immunoglobulin kappa variable 2D-29 120 13.1 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6S9 KV137_HUMAN IGKV1-37 Probable non-functional immunoglobulin kappa variable 1-37 117 12.7 2 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A087WSY6 KVD15_HUMAN IGKV3D-15 Immunoglobulin kappa variable 3D-15 115 12.5 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A087WUV0 ZN892_HUMAN ZNF892 Zinc finger protein 892 522 59.6 2 Nucleus 0 0 0 1 3 2023-02-22 A0A087WV62 TVB16_HUMAN TRBV16 T cell receptor beta variable 16 115 12.8 7 Cell membrane 0 0 0 3 3 2018-05-23 A0A087X0K7 TVB17_HUMAN TRBV17 Probable non-functional T cell receptor beta variable 17 114 13 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A0A0MS01 TVG10_HUMAN TRGV10 Probable non-functional T cell receptor gamma variable 10 119 13.5 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A0A0MS15 HV349_HUMAN IGHV3-49 Immunoglobulin heavy variable 3-49 119 13.1 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A0A6YYJ7 TVA83_HUMAN TRAV8-3 T cell receptor alpha variable 8-3 113 12.7 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0B4J1V6 HV373_HUMAN IGHV3-73 Immunoglobulin heavy variable 3-73 119 12.9 14 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0B4J241 TVAM1_HUMAN TRAV13-1 T cell receptor alpha variable 13-1 112 12.6 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0B4J244 TVA3_HUMAN TRAV3 T cell receptor alpha variable 3 114 12.6 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0B4J245 TVAL1_HUMAN TRAV12-1 T cell receptor alpha variable 12-1 112 12.9 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0B4J273 TVA34_HUMAN TRAV34 T cell receptor alpha variable 34 112 12.5 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A0C4DH30 HV316_HUMAN IGHV3-16 Probable non-functional immunoglobulin heavy variable 3-16 117 13.1 14 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A0C4DH31 HV118_HUMAN IGHV1-18 Immunoglobulin heavy variable 1-18 117 12.8 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A0C4DH38 HV551_HUMAN IGHV5-51 Immunoglobulin heavy variable 5-51 117 12.7 14 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0C4DH42 HV366_HUMAN IGHV3-66 Immunoglobulin heavy variable 3-66 116 12.7 14 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0J9YVY3 HV741_HUMAN IGHV7-4-1 Immunoglobulin heavy variable 7-4-1 117 12.8 14 Secreted; Cell membrane 0 0 0 1 3 2017-04-12 A0A0J9YX35 HV64D_HUMAN IGHV3-64D Immunoglobulin heavy variable 3-64D 117 12.8 14 Secreted; Cell membrane 0 0 0 1 3 2017-09-27 A0A0J9YXV3 GREP1_HUMAN GREP1 Glycine-rich extracellular protein 1 536 54.3 16 Secreted 0 0 0 1 3 2023-06-28 A0A0J9YXX1 HV5X1_HUMAN IGHV5-10-1 Immunoglobulin heavy variable 5-10-1 117 12.8 14 Secreted; Cell membrane 0 0 0 1 3 2017-04-12 A0A0K0K1B3 TVB30_HUMAN TRBV30 T cell receptor beta variable 30 111 12.2 7 Cell membrane 0 0 0 1 3 2018-07-18 A0A0K0K1D8 TVB61_HUMAN TRBV6-1 T cell receptor beta variable 6-1 114 12.6 7 Cell membrane 0 0 0 1 3 2018-04-25 A0A0K0K1E9 TVB77_HUMAN TRBV7-7 T cell receptor beta variable 7-7 115 12.8 7 Cell membrane 0 0 0 3 3 2018-04-25 A0A0K0K1G8 TVBJ2_HUMAN TRBV10-2 T cell receptor beta variable 10-2 114 13 7 Cell membrane 0 0 0 1 3 2018-04-25 A0A0U1RQF7 DP2NB_HUMAN DPEP2NB DPEP2 neighbor protein 123 13.4 16 0 0 0 1 3 2018-07-18 A0A1B0GTK4 F237A_HUMAN FAM237A Protein FAM237A 181 20.6 2 Secreted 0 0 0 1 3 2017-06-07 A0A1B0GX31 TVB76_HUMAN TRBV7-6 T cell receptor beta variable 7-6 115 12.8 7 Cell membrane 0 0 0 3 3 2018-04-25 A0A1B0GX49 TVB64_HUMAN TRBV6-4 T cell receptor beta variable 6-4 114 12.3 7 Cell membrane 0 0 0 1 3 2018-04-25 A0A1B0GX51 TVB78_HUMAN TRBV7-8 T cell receptor beta variable 7-8 115 12.7 Cell membrane 0 0 0 1 3 2018-04-25 A0A1B0GX95 TVB74_HUMAN TRBV7-4 T cell receptor beta variable 7-4 115 12.7 7 Cell membrane 0 0 0 3 3 2018-04-25 A0A1W2PR75 S72L6_HUMAN SSU72L6 RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 6 194 22.5 7 Nucleus 0 0 0 3 3 2023-02-22 A0A2R8YED5 O5BS1_HUMAN OR5BS1 Olfactory receptor 5BS1 311 34 12 Cell membrane 7 0 0 3 3 2025-02-05 A0A597 TVB55_HUMAN TRBV5-5 T cell receptor beta variable 5-5 114 12.6 7 Cell membrane 0 0 0 3 3 2018-03-28 A0A6I8PU40 TUG1_HUMAN TUG1 Taurine up-regulated 1 protein 153 16 22 Nucleus membrane; Mitochondrion membrane; Cytoplasm 1 0 0 1 3 2022-02-23 A1L1A6 IGS23_HUMAN IGSF23 Immunoglobulin superfamily member 23 192 20.6 19 Cell membrane 1 0 0 2 3 2011-06-28 A2A3N6 PIPSL_HUMAN PIPSL Putative PIP5K1A and PSMD4-like protein 862 95 Cytoplasm 0 0 0 5 3 2008-09-02 A2RU54 HMX2_HUMAN HMX2 Homeobox protein HMX2 273 29.6 10 Nucleus 0 0 0 1 3 2007-07-10 A4FU49 SH321_HUMAN SH3D21 SH3 domain-containing protein 21 640 70.5 1 0 0 0 1 3 2008-05-20 A5PL33 KRBD3_HUMAN KRABD3 KRAB domain-containing protein 3 1030 107.5 7 0 0 0 1 3 2007-09-11 A6NC42 DPPA5_HUMAN DPPA5 Developmental pluripotency-associated 5 protein 116 13.5 6 Cytoplasm 0 0 0 1 3 2007-12-04 A6NCC3 GOG8O_HUMAN GOLGA8O Golgin subfamily A member 8O 632 71.5 15 0 0 0 1 3 2008-07-01 A6NCI4 VWA3A_HUMAN VWA3A von Willebrand factor A domain-containing protein 3A 1184 134 16 Secreted 0 0 0 1 3 2008-03-18 A6NCN2 KR87P_HUMAN KRT87P Putative keratin-87 protein 255 29.1 0 0 0 5 3 2008-06-10 A6NDD5 SYN1L_HUMAN SYNDIG1L Synapse differentiation-inducing gene protein 1-like 238 25.8 14 Membrane; Golgi apparatus 2 0 0 3 3 2008-04-29 A6NDI0 TR49B_HUMAN TRIM49B Putative tripartite motif-containing protein 49B 452 52.7 11 0 0 0 1 3 2008-04-08 A6NDL8 O6C68_HUMAN OR6C68 Olfactory receptor 6C68 312 35.3 12 Cell membrane 7 0 0 3 3 2007-11-13 A6NFC5 TM235_HUMAN TMEM235 Transmembrane protein 235 223 23.4 17 Membrane; Endoplasmic reticulum 3 0 0 2 3 2008-07-22 A6NFC9 OR2W5_HUMAN OR2W5 Putative olfactory receptor 2W5 320 35.5 Cell membrane 4 0 0 5 3 2008-07-22 A6NH57 ARL5C_HUMAN ARL5C Putative ADP-ribosylation factor-like protein 5C 179 20.6 17 0 0 0 3 3 2008-04-29 A6NHJ4 ZN860_HUMAN ZNF860 Zinc finger protein 860 632 73.8 3 Nucleus 0 0 0 1 3 2008-09-23 A6NI87 CBY3_HUMAN CBY3 Sperm annulus positioning complex subunit Chibby3 242 27.3 5 Cell projection 0 0 0 1 3 2008-06-10 A6NJY4 T238L_HUMAN TMEM238L Transmembrane protein 238-like 79 8.8 17 Endoplasmic reticulum membrane 2 0 0 1 3 2008-07-22 A6NK59 ASB14_HUMAN ASB14 Ankyrin repeat and SOCS box protein 14 587 65.3 3 0 0 0 1 3 2009-04-14 A6NKD9 CC85C_HUMAN CCDC85C Coiled-coil domain-containing protein 85C 419 45.2 14 Cell junction 0 0 0 1 3 2008-07-22 A6NKK0 OR5H1_HUMAN OR5H1 Olfactory receptor 5H1 313 35.4 3 Cell membrane 7 0 0 1 3 2007-11-13 A6NKQ9 CGB1_HUMAN CGB1 Choriogonadotropin subunit beta variant 1 187 20.5 19 Secreted 0 0 0 2 3 2008-07-01 A6NM03 O2AG2_HUMAN OR2AG2 Olfactory receptor 2AG2 316 35.3 11 Cell membrane 7 0 0 2 3 2007-12-04 A6NM28 ZFP92_HUMAN ZFP92 Zinc finger protein 92 homolog 416 45.8 X Nucleus 0 0 0 1 3 2008-04-08 A6NN92 CXE1_HUMAN GJE1 Gap junction epsilon-1 protein 205 23.8 6 Cell membrane 4 0 0 2 3 2008-02-05 A6NNF4 ZN726_HUMAN ZNF726 Zinc finger protein 726 616 71.4 19 Nucleus 0 0 0 1 3 2008-06-10 A6NNP5 CC169_HUMAN CCDC169 Coiled-coil domain-containing protein 169 214 25.3 13 0 0 0 1 3 2008-06-10 A6NP11 ZN716_HUMAN ZNF716 Zinc finger protein 716 495 57 7 Nucleus 0 0 0 1 3 2008-02-26 A6PVS8 LRIQ3_HUMAN LRRIQ3 Leucine-rich repeat and IQ domain-containing protein 3 624 73.7 1 0 0 0 1 3 2007-11-13 A8K0S8 ME3L2_HUMAN MEIS3P2 Putative homeobox protein Meis3-like 2 358 39.2 17 Nucleus 0 0 0 1 3 2008-09-02 A8MTY7 KRA97_HUMAN KRTAP9-7 Keratin-associated protein 9-7 169 17.8 17 0 0 0 1 3 2008-04-29 A8MX76 CAN14_HUMAN CAPN14 Calpain-14 684 79.6 2 3.4.22.- 0 0 0 1 3 2008-06-10 A8MXU0 DB108_HUMAN DEFB108A Putative beta-defensin 108A 73 8.4 Secreted 0 0 0 5 3 2008-06-10 A8MXY4 ZNF99_HUMAN ZNF99 Zinc finger protein 99 864 100.8 19 Nucleus 0 0 0 2 3 2008-07-22 B1AJZ9 FHAD1_HUMAN FHAD1 Forkhead-associated domain-containing protein 1 1412 161.9 1 Cell projection 0 0 0 1 3 2008-09-02 B1APH4 ZN487_HUMAN ZNF487 Zinc finger protein 487 207 23.8 10 Nucleus 0 0 0 2 3 2008-07-22 B3SHH9 TM114_HUMAN TMEM114 Transmembrane protein 114 223 24.2 16 Cell junction; Lateral cell membrane; Apical cell membrane 4 0 0 1 3 2008-10-14 B7ZAP0 RBG10_HUMAN RABGAP1L Rab GTPase-activating protein 1-like, isoform 10 253 29 1 0 0 0 1 3 2012-06-13 C0HM01 RBRP_HUMAN SEPTIN14P20 Putative RNA-binding regulatory peptide 71 8.4 0 0 0 5 3 2022-05-25 C0HME5 MAND4_HUMAN MT-ND4 Mitochondrial alternative ND4 protein 99 11.5 MT Secreted; Cytoplasm; Mitochondrion 0 0 0 1 3 2026-01-28 C9J2P7 U17LF_HUMAN USP17L15 Ubiquitin carboxyl-terminal hydrolase 17-like protein 15 553 62.5 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 C9J798 RAS4B_HUMAN RASA4B Ras GTPase-activating protein 4B 803 90.4 7 Cytoplasm; Cell membrane 0 0 0 1 3 2010-07-13 C9JJH3 U17LA_HUMAN USP17L10 Ubiquitin carboxyl-terminal hydrolase 17-like protein 10 530 59.9 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 C9JLR9 ZFTA_HUMAN ZFTA Zinc finger translocation-associated protein 678 73.2 11 0 0 0 1 3 2010-05-18 C9JQL5 DSA2D_HUMAN Putative dispanin subfamily A member 2d 133 14.8 12 Membrane 2 0 0 5 3 2012-06-13 C9JSJ3 MEIOS_HUMAN MEIOSIN Meiosis initiator protein 638 70.2 19 Nucleus 0 0 0 1 3 2014-10-29 C9JVI0 U17LB_HUMAN USP17L11 Ubiquitin carboxyl-terminal hydrolase 17-like protein 11 530 59.6 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 D6R901 U17LL_HUMAN USP17L21 Ubiquitin carboxyl-terminal hydrolase 17-like protein 21 530 59.7 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 D6R9N7 U17LI_HUMAN USP17L18 Ubiquitin carboxyl-terminal hydrolase 17-like protein 18 530 59.7 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 E2RYF6 MUC22_HUMAN MUC22 Mucin-22 1773 173.5 6 Membrane 1 0 0 1 3 2011-06-28 G3V0H7 SO1B7_HUMAN SLCO1B7 Putative solute carrier organic anion transporter family member 1B7 640 71.2 Cell membrane 11 0 0 5 3 2012-02-22 H3BSY2 GOG8M_HUMAN GOLGA8M Golgin subfamily A member 8M 632 71.5 15 0 0 0 3 3 2013-01-09 I3L3R5 CCER2_HUMAN CCER2 Coiled-coil domain-containing glutamate-rich protein 2 266 30.4 19 Secreted 0 0 0 1 3 2014-02-19 L0R819 ASURF_HUMAN ASDURF ASNSD1 upstream open reading frame protein 96 11.3 2 Cytoplasm 0 0 0 1 3 2017-11-22 O00110 OVOL3_HUMAN OVOL3 Putative transcription factor ovo-like protein 3 190 21.3 19 Nucleus 0 0 0 3 3 2008-02-26 O60287 NPA1P_HUMAN URB1 Nucleolar pre-ribosomal-associated protein 1 2271 254.4 21 Nucleus 0 0 0 1 3 2000-05-30 O60320 EREP2_HUMAN ENTREP2 Protein ENTREP2 539 56.5 15 Membrane 4 0 0 1 3 2000-05-30 O60397 COX7S_HUMAN COX7A2P2 Putative cytochrome c oxidase subunit 7A3, mitochondrial 106 11.8 Mitochondrion inner membrane 0 0 0 5 3 2000-12-01 O75474 FRAT2_HUMAN FRAT2 GSK-3-binding protein FRAT2 233 24.1 10 0 0 0 1 3 2000-05-30 O76000 OR2B3_HUMAN OR2B3 Putative olfactory receptor 2B3 313 35.5 6 Cell membrane 7 0 0 3 3 2001-06-20 O94819 KBTBB_HUMAN KBTBD11 Kelch repeat and BTB domain-containing protein 11 623 65.7 8 0 0 0 1 3 2001-06-01 O95013 O4F21_HUMAN OR4F21 Olfactory receptor 4F21 312 35.1 8 Cell membrane 7 0 0 3 3 2001-06-20 O95158 NXPH4_HUMAN NXPH4 Neurexophilin-4 308 33.1 12 Secreted 0 0 0 1 3 2000-12-01 O95221 OR5F1_HUMAN OR5F1 Olfactory receptor 5F1 314 35.1 11 Cell membrane 7 0 0 1 3 2001-06-20 P03979 TRGV3_HUMAN TRGV3 T cell receptor gamma variable 3 118 13.7 7 Cell membrane 0 0 0 1 3 1986-10-23 P0C263 SBK2_HUMAN SBK2 Serine/threonine-protein kinase SBK2 348 38.1 19 2.7.11.1 0 0 0 1 3 2006-11-28 P0C6A0 ZGLP1_HUMAN ZGLP1 GATA-type zinc finger protein 1 273 29.7 19 Nucleus 0 0 0 1 3 2008-02-05 P0C7Q2 ARMS2_HUMAN ARMS2 Age-related maculopathy susceptibility protein 2 107 11.4 10 Cytoplasm 0 1 Macular degeneration, age-related, 8 0 1 3 2008-07-01 P0C7T2 OR2T7_HUMAN OR2T7 Olfactory receptor 2T7 308 34.3 Cell membrane 7 0 0 3 3 2008-07-22 P0C7T3 O56A5_HUMAN OR56A5 Olfactory receptor 56A5 313 35.3 11 Cell membrane 7 0 0 3 3 2008-07-22 P0C7U1 ASA2B_HUMAN ASAH2B Putative inactive neutral ceramidase B 165 19 10 0 0 0 2 3 2008-07-22 P0C7X1 TBC3H_HUMAN TBC1D3H TBC1 domain family member 3H 549 62.2 17 Cell membrane 0 0 0 2 3 2008-07-22 P0CB38 PAB4L_HUMAN PABPC4L Polyadenylate-binding protein 4-like 370 41.9 4 0 0 0 1 3 2009-09-22 P0CG36 CFC1B_HUMAN CFC1B Cryptic family protein 1B 223 24.6 2 Secreted 0 0 0 3 3 2010-07-13 P0CL82 GG12I_HUMAN GAGE12I G antigen 12I 117 13 X 0 0 0 1 3 2011-05-03 P0CW20 LIMS4_HUMAN LIMS4 LIM and senescent cell antigen-like-containing domain protein 4 117 13.3 2 0 0 0 1 3 2011-05-31 P0DM35 M1BL1_HUMAN MT1HL1 Metallothionein 1H-like protein 1 61 6.1 1 0 0 0 1 3 2013-05-29 P0DN82 O12D1_HUMAN OR12D1 Olfactory receptor 12D1 320 36.4 Cell membrane 7 0 0 3 3 2016-02-17 P0DP04 HV43D_HUMAN IGHV3-43D Immunoglobulin heavy variable 3-43D 118 13 Secreted; Cell membrane 0 0 0 3 3 2017-04-12 P0DP74 D130A_HUMAN DEFB130A Beta-defensin 130A 79 8.7 8 Secreted 0 0 0 2 3 2017-07-05 P0DPA2 VSIG8_HUMAN VSIG8 V-set and immunoglobulin domain-containing protein 8 414 43.9 1 Membrane 1 0 0 1 3 2017-10-25 P0DPF3 NBPF9_HUMAN NBPF9 NBPF family member NBPF9 1111 127.8 1 Cytoplasm 0 0 0 2 3 2018-03-28 P0DPF7 TVB63_HUMAN TRBV6-3 T cell receptor beta variable 6-3 114 12.5 7 Cell membrane 0 0 0 3 3 2018-04-25 P0DQD5 NPY42_HUMAN NPY4R2 Neuropeptide Y receptor type 4-2 375 42.2 10 Cell membrane 7 0 0 3 3 2019-04-10 P0DSN7 KVD37_HUMAN IGKV1D-37 Probable non-functional immunoglobulin kappa variable 1D-37 117 12.7 2 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 P0DTL6 ZTRF1_HUMAN ZFTRAF1 Zinc finger TRAF-type-containing protein 1 404 43.8 8 Cytoplasm 0 0 0 1 3 2022-10-12 P0DV77 TPRX2_HUMAN TPRX2 Tetrapeptide repeat homeobox protein 2 301 32.6 19 Nucleus 0 0 0 2 3 2022-05-25 P12525 MYCP1_HUMAN MYCLP1 Putative myc-like protein MYCLP1 358 40.9 Nucleus 0 0 0 5 3 1989-10-01 P15421 GLPE_HUMAN GYPE Glycophorin-E 78 8.5 4 Membrane 1 0 0 1 3 1990-04-01 P17017 ZNF14_HUMAN ZNF14 Zinc finger protein 14 642 75.4 19 Nucleus 0 0 0 1 3 1990-08-01 P35542 SAA4_HUMAN SAA4 Serum amyloid A-4 protein 130 14.7 11 Secreted 0 0 0 1 3 1994-06-01 P43362 MAGA9_HUMAN MAGEA9 Melanoma-associated antigen 9 315 35.1 X 0 0 0 1 3 1995-11-01 P51861 CDR1_HUMAN CDR1 Cerebellar degeneration-related antigen 1 262 31.3 X 0 0 0 1 3 1996-10-01 P52740 ZN132_HUMAN ZNF132 Zinc finger protein 132 706 80.6 19 Nucleus 0 0 0 1 3 1996-10-01 P56749 CLD12_HUMAN CLDN12 Claudin-12 244 27.1 7 Cell junction; Cell membrane 4 0 0 1 3 2000-05-30 P58511 SIM11_HUMAN SMIM11 Small integral membrane protein 11 58 6.9 21 Membrane 1 0 0 1 3 2002-01-23 P59541 T2R30_HUMAN TAS2R30 Taste receptor type 2 member 30 319 36.9 12 Membrane 7 0 0 2 3 2003-04-11 P59551 T2R60_HUMAN TAS2R60 Taste receptor type 2 member 60 318 36.3 7 Membrane 7 0 0 2 3 2003-04-11 Q008S8 ECT2L_HUMAN ECT2L Epithelial cell-transforming sequence 2 oncogene-like 904 104.9 6 0 0 0 1 3 2008-05-20 Q02325 PLGB_HUMAN PLGLB1 Plasminogen-like protein B 96 11 2 Secreted 0 0 0 1 3 1994-06-01 Q03924 ZN117_HUMAN ZNF117 Zinc finger protein 117 483 56.4 7 Nucleus 0 0 0 1 3 1994-06-01 Q13536 CROC4_HUMAN MIR9-1HG Protein CROC-4 156 17.2 1 Nucleus 0 0 0 2 3 2008-05-20 Q15615 OR4D1_HUMAN OR4D1 Olfactory receptor 4D1 310 35.2 17 Cell membrane 7 0 0 2 3 2001-06-20 Q15619 OR1C1_HUMAN OR1C1 Olfactory receptor 1C1 314 35 1 Cell membrane 7 0 0 2 3 2001-06-20 Q16609 LPAL2_HUMAN LPAL2 Putative apolipoprotein(a)-like protein 2 132 14.9 Secreted 0 0 0 5 3 2008-02-05 Q1X8D7 LRC36_HUMAN LRRC36 Leucine-rich repeat-containing protein 36 754 83.8 16 0 0 0 1 3 2007-02-06 Q1XH10 SKDA1_HUMAN SKIDA1 SKI/DACH domain-containing protein 1 908 98.1 10 0 0 0 1 3 2008-04-08 Q2M5E4 RGS21_HUMAN RGS21 Regulator of G protein signaling 21 152 17.7 1 0 0 0 2 3 2007-01-09 Q2TAL5 SMTL2_HUMAN SMTNL2 Smoothelin-like protein 2 461 50.2 17 0 0 0 1 3 2008-02-05 Q2TBF2 WSCD2_HUMAN WSCD2 Sialate:O-sulfotransferase 2 565 63.8 12 Golgi apparatus membrane 1 0 0 1 3 2007-10-02 Q2WGJ8 CTSRQ_HUMAN CATSPERQ Cation channel sperm-associated auxiliary subunit theta 235 27 8 Cell projection 2 0 0 1 3 2008-04-29 Q30KQ8 DB112_HUMAN DEFB112 Beta-defensin 112 113 13 6 Secreted 0 0 0 1 3 2005-12-20 Q32P51 RA1L2_HUMAN HNRNPA1L2 Heterogeneous nuclear ribonucleoprotein A1-like 2 320 34.2 13 Nucleus; Cytoplasm 0 0 0 1 3 2008-02-26 Q3B7J2 GFOD2_HUMAN GFOD2 Glucose-fructose oxidoreductase domain-containing protein 2 385 42.3 16 1.-.-.- Secreted 0 0 0 1 3 2007-04-03 Q3BBV2 NBPF8_HUMAN NBPF8 NBPF family member NBPF8 942 108.5 1 Cytoplasm 0 0 0 2 3 2007-05-29 Q3KNT7 NSN5B_HUMAN NSUN5P1 Putative NOL1/NOP2/Sun domain family member 5B 163 17.7 2.1.1.- 0 0 0 5 3 2006-11-28 Q3KP31 ZN791_HUMAN ZNF791 Zinc finger protein 791 576 66.9 19 Nucleus 0 0 0 1 3 2007-12-04 Q3LI83 KR241_HUMAN KRTAP24-1 Keratin-associated protein 24-1 254 27.7 21 0 0 0 1 3 2006-02-21 Q3MIS6 ZN528_HUMAN ZNF528 Zinc finger protein 528 628 72.1 19 Nucleus 0 0 0 1 3 2007-03-20 Q4KMZ1 IQCC_HUMAN IQCC IQ domain-containing protein C 466 53 1 0 0 0 1 3 2007-04-03 Q4VXA5 KHDC1_HUMAN KHDC1 KH homology domain-containing protein 1 237 27.2 6 Membrane 2 0 0 1 3 2007-11-13 Q4W5P6 SIM43_HUMAN SMIM43 Small integral membrane protein 43 63 7.3 4 Cell membrane 1 0 0 1 3 2007-04-03 Q504U0 CD046_HUMAN C4orf46 Renal cancer differentiation gene 1 protein 113 11.9 4 Cytoplasm 0 0 0 1 3 2008-05-20 Q50LG9 LRC24_HUMAN LRRC24 Leucine-rich repeat-containing protein 24 513 55.3 8 Membrane 1 0 0 1 3 2006-04-04 Q52LD8 RFTN2_HUMAN RFTN2 Raftlin-2 501 55.9 2 Cell membrane 0 0 0 1 3 2005-08-30 Q53EQ6 TIGD5_HUMAN TIGD5 Tigger transposable element-derived protein 5 642 69.2 8 Nucleus 0 0 0 1 3 2007-01-23 Q53S08 RAB6D_HUMAN RAB6D Ras-related protein Rab-6D 254 28.2 2 3.6.5.2 0 0 0 1 3 2018-04-25 Q53S99 CB083_HUMAN SLC19A4P Putative solute carrier family 19 member 4 150 16.4 2 0 0 0 1 3 2008-02-26 Q58FG1 HS904_HUMAN HSP90AA4P Putative heat shock protein HSP 90-alpha A4 418 47.7 Cytoplasm 0 0 0 5 3 2008-07-01 Q5BKY9 F133B_HUMAN FAM133B Protein FAM133B 247 28.4 7 0 0 0 1 3 2007-05-29 Q5HYR2 DMRTC_HUMAN DMRTC1 Doublesex- and mab-3-related transcription factor C1 192 20.1 X 0 0 0 1 3 2006-06-27 Q5I0G3 MDH1B_HUMAN MDH1B Putative malate dehydrogenase 1B 518 58.7 2 1.1.1.- 0 0 0 1 3 2008-04-29 Q5JQS6 GSAML_HUMAN GCSAML Germinal center-associated signaling and motility-like protein 135 15.7 1 0 0 0 1 3 2007-07-10 Q5JRS4 O10J3_HUMAN OR10J3 Olfactory receptor 10J3 329 36.5 Cell membrane 7 0 0 3 3 2005-12-20 Q5PT55 NTCP5_HUMAN SLC10A5 Sodium/bile acid cotransporter 5 438 48.9 8 Membrane 9 0 0 1 3 2006-12-12 Q5SWX8 ODR4_HUMAN ODR4 Protein odr-4 homolog 454 51.1 1 Membrane 2 0 0 1 3 2007-09-11 Q5T035 CI129_HUMAN FAM120A2P Putative uncharacterized protein FAM120A2P 196 20.7 9 0 0 0 4 3 2008-09-02 Q5T292 TM273_HUMAN TMEM273 Transmembrane protein 273 105 11.3 10 Membrane 1 0 0 1 3 2007-10-23 Q5T3I0 GPTC4_HUMAN GPATCH4 G patch domain-containing protein 4 446 50.4 0 0 0 1 3 2007-05-15 Q5TAG4 NBPFC_HUMAN NBPF12 NBPF family member NBPF12 1457 167.7 1 Cytoplasm 0 0 0 2 3 2007-05-29 Q5UAW9 GP157_HUMAN GPR157 G protein-coupled receptor 157 335 36.6 1 Cell projection 7 0 0 1 3 2005-08-16 Q5VTM2 AGAP9_HUMAN AGAP9 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9 703 78 10 0 0 0 3 3 2007-04-17 Q5VTU8 AT5EL_HUMAN ATP5F1EP2 ATP synthase subunit epsilon-like protein, mitochondrial 51 5.8 Mitochondrion inner membrane 0 0 0 1 3 2008-09-02 Q5VUJ6 LRCH2_HUMAN LRCH2 Leucine-rich repeat and calponin homology domain-containing protein 2 765 84.6 X 0 0 0 1 3 2006-10-17 Q5VV52 ZN691_HUMAN ZNF691 Zinc finger protein 691 315 35.8 1 Nucleus 0 0 0 1 3 2006-05-02 Q5VVC0 SPO16_HUMAN SPO16 Protein SPO16 homolog 180 20.4 1 Chromosome 0 0 0 1 3 2007-08-21 Q5VW22 AGAP6_HUMAN AGAP6 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 6 663 73.1 10 0 0 0 2 3 2007-04-17 Q5VXM1 CDCP2_HUMAN CDCP2 CUB domain-containing protein 2 540 59.1 1 Membrane 1 0 0 2 3 2007-10-02 Q5VXU3 CHIC1_HUMAN CHIC1 Cysteine-rich hydrophobic domain-containing protein 1 224 25.6 X Cell membrane; Cytoplasmic vesicle 0 0 0 1 3 2005-02-01 Q5W0V3 FHI2A_HUMAN FHIP2A FHF complex subunit HOOK interacting protein 2A 765 86.6 10 0 0 0 1 3 2007-04-17 Q658L1 SAXO2_HUMAN SAXO2 Stabilizer of axonemal microtubules 2 398 45.9 15 0 0 0 1 3 2008-02-26 Q69YU3 AN34A_HUMAN ANKRD34A Ankyrin repeat domain-containing protein 34A 496 52.6 1 0 0 0 1 3 2008-02-26 Q6AI08 HEAT6_HUMAN HEATR6 HEAT repeat-containing protein 6 1181 128.8 17 0 0 0 1 3 2008-05-20 Q6DHV5 C2D2B_HUMAN CC2D2B Protein CC2D2B 1437 166.8 10 0 0 0 1 3 2006-06-27 Q6ICG6 K0930_HUMAN KIAA0930 Uncharacterized protein KIAA0930 404 45.8 22 0 0 0 1 3 2006-10-31 Q6IE38 ISK14_HUMAN SPINK14 Serine protease inhibitor Kazal-type 14 97 11.1 5 Secreted 0 0 0 3 3 2008-05-20 Q6IF00 OR2T2_HUMAN OR2T2 Olfactory receptor 2T2 324 36.2 1 Cell membrane 7 0 0 2 3 2005-12-20 Q6IFH4 OR6B2_HUMAN OR6B2 Olfactory receptor 6B2 312 35 2 Cell membrane 7 0 0 2 3 2005-12-20 Q6NSI8 SANBR_HUMAN SANBR SANT and BTB domain regulator of class switch recombination 718 82 2 0 0 0 1 3 2008-03-18 Q6NSJ2 PHLB3_HUMAN PHLDB3 Pleckstrin homology-like domain family B member 3 640 71.9 19 0 0 0 1 3 2005-12-20 Q6NV75 GP153_HUMAN GPR153 Probable G protein-coupled receptor 153 609 65.4 1 Cell membrane 7 0 0 1 3 2005-11-08 Q6NVV3 NIPA3_HUMAN NIPAL1 Magnesium transporter NIPA3 410 44.6 4 Golgi apparatus membrane 9 0 0 1 3 2006-06-27 Q6NX49 ZN544_HUMAN ZNF544 Zinc finger protein 544 715 81.7 19 Nucleus 0 0 0 1 3 2006-01-10 Q6P3V2 Z585A_HUMAN ZNF585A Zinc finger protein 585A 769 88 19 Nucleus 0 0 0 1 3 2005-10-25 Q6P6B7 ANR16_HUMAN ANKRD16 Ankyrin repeat domain-containing protein 16 361 39.3 10 Cytoplasm; Nucleus 0 0 0 1 3 2006-06-27 Q6P9A3 ZN549_HUMAN ZNF549 Zinc finger protein 549 640 74.4 19 Nucleus 0 0 0 1 3 2006-05-16 Q6PDA7 SG11A_HUMAN SPAG11A Sperm-associated antigen 11A 123 13.8 8 Secreted 0 0 0 1 3 2008-01-15 Q6PP77 XKR2_HUMAN XKRX XK-related protein 2 449 52.1 X Cell membrane 10 0 0 1 3 2005-10-11 Q6S5H5 POTEG_HUMAN POTEG POTE ankyrin domain family member G 508 57.1 14 0 0 0 2 3 2004-11-23 Q6S8J7 POTEA_HUMAN POTEA POTE ankyrin domain family member A 498 56.2 0 0 0 2 3 2004-11-23 Q6UW10 SFTA2_HUMAN SFTA2 Surfactant-associated protein 2 78 8.4 6 Secreted; Cytoplasmic vesicle; Golgi apparatus 0 0 0 1 3 2004-11-23 Q6UWV7 SHL2A_HUMAN SHISAL2A Protein shisa-like-2A 190 20.3 1 Membrane 2 0 0 1 3 2008-02-05 Q6UX68 XKR5_HUMAN XKR5 XK-related protein 5 686 75 8 Cell membrane 5 0 0 1 3 2005-10-11 Q6ZMW3 EMAL6_HUMAN EML6 Echinoderm microtubule-associated protein-like 6 1958 217.9 2 Cytoplasm 0 0 0 1 3 2008-03-18 Q6ZNA1 ZN836_HUMAN ZNF836 Zinc finger protein 836 936 107.7 19 Nucleus 0 0 0 1 3 2008-02-26 Q6ZNR0 TMM91_HUMAN TMEM91 Transmembrane protein 91 172 18.2 19 Membrane 2 0 0 1 3 2004-11-23 Q6ZS86 GLPK5_HUMAN GK5 Glycerol kinase 5 529 59.2 3 2.7.1.30 Cytoplasm 0 0 0 1 3 2008-03-18 Q6ZUV0 BACHL_HUMAN ACOT7L Cytosolic acyl coenzyme A thioester hydrolase-like 252 28.2 Cytoplasm 0 0 0 5 3 2008-09-02 Q6ZUX3 TGRM2_HUMAN TOGARAM2 TOG array regulator of axonemal microtubules protein 2 1019 111.2 2 0 0 0 1 3 2008-03-18 Q75NE6 MIRH1_HUMAN MIR17HG Putative microRNA 17 host gene protein 70 8.2 Membrane 1 1 Feingold syndrome 2 0 5 3 2007-02-06 Q76G19 PDZD4_HUMAN PDZD4 PDZ domain-containing protein 4 769 86.2 X Cytoplasm 0 0 0 1 3 2005-02-01 Q76KD6 SPERI_HUMAN SPATC1 Speriolin 591 62.4 8 Cytoplasm 0 0 0 1 3 2007-12-04 Q7L311 ARMX2_HUMAN ARMCX2 Armadillo repeat-containing X-linked protein 2 632 65.7 X Mitochondrion; Mitochondrion outer membrane 1 0 0 1 3 2005-12-20 Q7L945 ZN627_HUMAN ZNF627 Zinc finger protein 627 461 52.9 19 Nucleus 0 0 0 1 3 2007-03-20 Q7Z309 PBIR2_HUMAN PABIR2 PABIR family member 2 247 26.9 X 0 0 0 1 3 2006-10-31 Q7Z3E2 CC186_HUMAN CCDC186 Coiled-coil domain-containing protein 186 898 103.7 10 0 0 0 1 3 2005-07-19 Q7Z4R8 CF120_HUMAN C6orf120 UPF0669 protein C6orf120 191 20.8 6 Secreted 0 0 0 1 3 2007-08-21 Q7Z572 SPT21_HUMAN SPATA21 Spermatogenesis-associated protein 21 469 52.2 1 0 0 0 2 3 2008-04-29 Q7Z5L3 C1QL2_HUMAN C1QL2 Complement C1q-like protein 2 287 29.5 2 Secreted 0 0 0 1 3 2007-02-06 Q7Z5L4 SPT19_HUMAN SPATA19 Spermatogenesis-associated protein 19, mitochondrial 167 19.2 11 Mitochondrion outer membrane; Mitochondrion; Cell projection 0 0 0 1 3 2006-10-03 Q7Z5Y7 KCD20_HUMAN KCTD20 BTB/POZ domain-containing protein KCTD20 419 47.5 6 Cytoplasm 0 0 0 1 3 2006-10-31 Q7Z7J9 CK2N1_HUMAN CAMK2N1 Calcium/calmodulin-dependent protein kinase II inhibitor 1 78 8.6 1 Synapse; Cell projection; Postsynaptic density 0 0 0 1 3 2008-06-10 Q86T75 NBPFB_HUMAN NBPF11 NBPF family member NBPF11 865 99.4 1 Cytoplasm 0 0 0 2 3 2007-05-29 Q86TE4 LUZP2_HUMAN LUZP2 Leucine zipper protein 2 346 39 11 Secreted 0 0 0 1 3 2008-01-15 Q86VG3 IFTAP_HUMAN IFTAP Intraflagellar transport-associated protein 221 25.4 11 0 0 0 1 3 2007-05-29 Q86VR8 FJX1_HUMAN FJX1 Four-jointed box protein 1 437 48.5 11 Secreted 0 0 0 1 3 2008-05-20 Q86VS3 IQCH_HUMAN IQCH IQ domain-containing protein H 1027 117.3 15 0 0 0 1 3 2007-04-03 Q86W25 NAL13_HUMAN NLRP13 NACHT, LRR and PYD domains-containing protein 13 1043 118.9 19 0 0 0 1 3 2004-04-13 Q86WR7 PRSR2_HUMAN PROSER2 Proline and serine-rich protein 2 435 45.8 10 0 0 0 1 3 2005-08-16 Q86XD8 ZFAN4_HUMAN ZFAND4 AN1-type zinc finger protein 4 727 80.4 10 0 0 0 1 3 2007-01-09 Q86YB7 ECHD2_HUMAN ECHDC2 Enoyl-CoA hydratase domain-containing protein 2, mitochondrial 292 31.1 1 Mitochondrion 0 0 0 1 3 2007-11-13 Q8IUA0 WFDC8_HUMAN WFDC8 WAP four-disulfide core domain protein 8 241 27.8 20 Secreted 0 0 0 1 3 2003-04-04 Q8IV33 K0825_HUMAN KIAA0825 Uncharacterized protein KIAA0825 1275 147.7 5 0 1 Polydactyly, postaxial, A10 0 1 3 2008-02-05 Q8IXT5 RB12B_HUMAN RBM12B RNA-binding protein 12B 1001 118.1 8 0 0 0 1 3 2007-01-23 Q8IXX5 T183A_HUMAN TMEM183A Transmembrane protein 183A 376 42.8 1 Membrane 1 0 0 1 3 2005-08-16 Q8IYK2 TEKL1_HUMAN TEKTL1 Tektin-like protein 1 499 56.9 19 Cytoplasm 0 0 0 1 3 2007-03-06 Q8IZ40 RCOR2_HUMAN RCOR2 REST corepressor 2 523 58 11 Nucleus 0 0 0 1 3 2006-03-07 Q8IZD0 SAM14_HUMAN SAMD14 Sterile alpha motif domain-containing protein 14 417 45.1 17 0 0 0 1 3 2006-10-03 Q8IZN7 D107A_HUMAN DEFB107A Beta-defensin 107 70 7.8 8 Secreted 0 0 0 2 3 2003-09-26 Q8N0V4 LGI2_HUMAN LGI2 Leucine-rich repeat LGI family member 2 545 62.3 4 Secreted 0 0 0 1 3 2003-07-03 Q8N0Y5 OR8I2_HUMAN OR8I2 Olfactory receptor 8I2 310 34.7 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8N162 OR8H2_HUMAN OR8H2 Olfactory receptor 8H2 312 35.4 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8N1E2 LYG1_HUMAN LYG1 Lysozyme g-like protein 1 194 21.4 2 3.2.1.- Secreted 0 0 0 1 3 2004-05-10 Q8N283 ANR35_HUMAN ANKRD35 Ankyrin repeat domain-containing protein 35 1001 109.9 1 0 0 0 1 3 2006-06-27 Q8N2E2 VWDE_HUMAN VWDE von Willebrand factor D and EGF domain-containing protein 1590 176.8 7 Secreted 0 0 0 1 3 2008-04-08 Q8N2X6 EXAS1_HUMAN EXOC3-AS1 Uncharacterized protein EXOC3-AS1 119 12.7 Secreted 0 0 0 1 3 2008-09-02 Q8N4S0 CCD82_HUMAN CCDC82 Coiled-coil domain-containing protein 82 544 64 11 0 0 0 1 3 2006-05-16 Q8N5U1 M4A15_HUMAN MS4A15 Membrane-spanning 4-domains subfamily A member 15 240 25.1 11 Membrane 4 0 0 1 3 2008-02-26 Q8N6N3 CA052_HUMAN C1orf52 UPF0690 protein C1orf52 182 20.6 1 0 0 0 1 3 2006-10-31 Q8N7F7 UBL4B_HUMAN UBL4B Ubiquitin-like protein 4B 174 19.9 1 Cytoplasm 0 0 0 1 3 2006-12-12 Q8N815 CNTD1_HUMAN CNTD1 Cyclin N-terminal domain-containing protein 1 330 36.9 17 Nucleus; Cytoplasm; Chromosome 0 0 0 1 3 2008-01-15 Q8N957 ANKF1_HUMAN ANKFN1 Ankyrin repeat and fibronectin type-III domain-containing protein 1 1146 129.7 17 0 0 0 1 3 2006-07-25 Q8N9N7 LRC57_HUMAN LRRC57 Leucine-rich repeat-containing protein 57 239 26.8 15 Membrane 0 0 0 1 3 2006-03-21 Q8NA47 CCD63_HUMAN CCDC63 Coiled-coil domain-containing protein 63 563 66.3 12 0 0 0 1 3 2007-05-29 Q8NB50 ZFP62_HUMAN ZFP62 Zinc finger protein 62 homolog 900 102.5 5 Nucleus 0 0 0 1 3 2004-04-26 Q8NCQ5 FBX15_HUMAN FBXO15 F-box only protein 15 510 57.3 18 0 0 0 1 3 2004-08-16 Q8NDX6 ZN740_HUMAN ZNF740 Zinc finger protein 740 193 21.9 12 Nucleus 0 0 0 1 3 2006-10-03 Q8NDZ0 BEND2_HUMAN BEND2 BEN domain-containing protein 2 799 87.9 X Nucleus 0 0 0 1 3 2005-07-19 Q8NDZ6 T161B_HUMAN TMEM161B Transmembrane protein 161B 487 55.5 5 Cell membrane 8 0 0 1 3 2007-05-29 Q8NE22 SETD9_HUMAN SETD9 SET domain-containing protein 9 299 34.1 5 2.1.1.- 0 0 0 1 3 2007-09-11 Q8NEP7 KLDC9_HUMAN KLHDC9 Kelch domain-containing protein 9 349 37.8 1 0 0 0 1 3 2007-09-11 Q8NFR7 CC148_HUMAN CCDC148 Coiled-coil domain-containing protein 148 591 71.1 2 0 0 0 1 3 2008-03-18 Q8NG41 NPB_HUMAN NPB Neuropeptide B 125 13.1 17 Secreted 0 0 0 1 3 2003-07-25 Q8NG78 OR8G5_HUMAN OR8G5 Olfactory receptor 8G5 346 38.8 Cell membrane 7 0 0 2 3 2005-07-19 Q8NG81 OR2M7_HUMAN OR2M7 Olfactory receptor 2M7 312 34.9 1 Cell membrane 7 0 0 2 3 2003-11-14 Q8NG83 OR2M3_HUMAN OR2M3 Olfactory receptor 2M3 312 34.8 1 Cell membrane 7 0 0 2 3 2003-11-07 Q8NG92 O13H1_HUMAN OR13H1 Olfactory receptor 13H1 308 34.6 X Cell membrane 7 0 0 2 3 2003-10-10 Q8NG95 OR7G3_HUMAN OR7G3 Olfactory receptor 7G3 312 34.4 19 Cell membrane 7 0 0 3 3 2003-10-10 Q8NG99 OR7G2_HUMAN OR7G2 Olfactory receptor 7G2 324 35.9 19 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGA2 OR7A2_HUMAN OR7A2P Putative olfactory receptor 7A2 310 34.4 Cell membrane 7 0 0 5 3 2003-10-10 Q8NGA5 O10H4_HUMAN OR10H4 Olfactory receptor 10H4 316 35.8 19 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGB2 OR4C5_HUMAN OR4C5 Olfactory receptor 4C5 326 36.9 11 Cell membrane 7 0 0 3 3 2006-01-10 Q8NGB9 OR4F6_HUMAN OR4F6 Olfactory receptor 4F6 312 35.4 15 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGD3 OR4K5_HUMAN OR4K5 Olfactory receptor 4K5 323 36.3 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGD5 OR4KE_HUMAN OR4K14 Olfactory receptor 4K14 310 35.1 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGE1 OR6C4_HUMAN OR6C4 Olfactory receptor 6C4 309 35 12 Cell membrane 7 0 0 2 3 2003-11-07 Q8NGE7 OR9K2_HUMAN OR9K2 Olfactory receptor 9K2 335 37.7 12 Cell membrane 6 0 0 2 3 2003-10-10 Q8NGE8 OR4D9_HUMAN OR4D9 Olfactory receptor 4D9 314 35.7 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGF0 O52B6_HUMAN OR52B6 Olfactory receptor 52B6 335 37 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGF9 OR4X2_HUMAN OR4X2 Olfactory receptor 4X2 303 34.3 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGG1 OR8J2_HUMAN OR8J2 Olfactory receptor 8J2 315 35.2 Membrane 7 0 0 3 3 2008-01-15 Q8NGG5 OR8K1_HUMAN OR8K1 Olfactory receptor 8K1 319 36.6 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGH3 OR2D3_HUMAN OR2D3 Olfactory receptor 2D3 330 37.5 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGI1 O56B2_HUMAN OR56B2 Olfactory receptor 56B2 316 35.4 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGJ2 O52H1_HUMAN OR52H1 Olfactory receptor 52H1 314 35 11 Membrane 7 0 0 2 3 2003-10-10 Q8NGJ8 O51S1_HUMAN OR51S1 Olfactory receptor 51S1 323 35.3 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGJ9 O51T1_HUMAN OR51T1 Olfactory receptor 51T1 327 37 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGK1 O51G1_HUMAN OR51G1 Olfactory receptor 51G1 321 36.3 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGL4 OR5DD_HUMAN OR5D13 Olfactory receptor 5D13 314 35.4 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGL6 O4A15_HUMAN OR4A15 Olfactory receptor 4A15 344 38.8 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGM1 OR4CF_HUMAN OR4C15 Olfactory receptor 4C15 316 35.7 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGN4 O10G9_HUMAN OR10G9 Olfactory receptor 10G9 311 34.6 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGN7 O10D4_HUMAN OR10D4P Putative olfactory receptor 10D4 298 33.1 Cell membrane 7 0 0 5 3 2003-10-10 Q8NGN8 OR4A4_HUMAN OR4A4P Putative olfactory receptor 4A4 299 33.6 Cell membrane 7 0 0 5 3 2003-10-10 Q8NGP3 OR5M9_HUMAN OR5M9 Olfactory receptor 5M9 310 35.1 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGP6 OR5M8_HUMAN OR5M8 Olfactory receptor 5M8 311 35.6 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGP8 OR5M1_HUMAN OR5M1 Olfactory receptor 5M1 315 35.6 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGP9 O5AR1_HUMAN OR5AR1 Olfactory receptor 5AR1 310 34.8 11 Cell membrane 7 0 0 3 3 2003-09-26 Q8NGQ3 OR1S2_HUMAN OR1S2 Olfactory receptor 1S2 325 36.6 11 Cell membrane 7 0 0 3 3 2003-09-26 Q8NGQ4 O10Q1_HUMAN OR10Q1 Olfactory receptor 10Q1 319 35.6 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGR4 OR5C1_HUMAN OR5C1 Olfactory receptor 5C1 320 35 9 Cell membrane 7 0 0 1 3 2003-10-10 Q8NGS0 OR1N1_HUMAN OR1N1 Olfactory receptor 1N1 311 34.7 9 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGS1 OR1J4_HUMAN OR1J4 Olfactory receptor 1J4 313 35 9 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGS3 OR1J1_HUMAN OR1J1 Olfactory receptor 1J1 322 35.5 9 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGT1 OR2K2_HUMAN OR2K2 Olfactory receptor 2K2 316 35 9 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGT7 O2A12_HUMAN OR2A12 Olfactory receptor 2A12 310 35.2 7 Cell membrane 7 0 0 2 3 2003-11-14 Q8NGT9 OR2A1_HUMAN OR2A1 Olfactory receptor 2A1/2A42 310 34.7 7 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGU1 OR9A1_HUMAN OR9A1P Olfactory receptor 9A1 314 35.4 Cell membrane 7 0 0 2 3 2008-07-22 Q8NGU9 GP150_HUMAN GPR150 Probable G protein-coupled receptor 150 434 46.4 5 Cell membrane 7 0 0 1 3 2004-07-05 Q8NGV0 OR2Y1_HUMAN OR2Y1 Olfactory receptor 2Y1 311 34.7 5 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGV7 OR5H2_HUMAN OR5H2 Olfactory receptor 5H2 309 35.4 3 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGW1 OR6B3_HUMAN OR6B3 Olfactory receptor 6B3 331 37.2 2 Cell membrane 7 0 0 3 3 2003-10-31 Q8NGX5 O10K1_HUMAN OR10K1 Olfactory receptor 10K1 313 35.1 1 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGZ6 OR6F1_HUMAN OR6F1 Olfactory receptor 6F1 308 34 1 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH02 O2T29_HUMAN OR2T29 Olfactory receptor 2T29 315 35.6 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH06 OR1P1_HUMAN OR1P1 Olfactory receptor 1P1 330 36.7 Cell membrane 7 0 0 3 3 2008-01-15 Q8NH49 OR4X1_HUMAN OR4X1 Olfactory receptor 4X1 305 34.2 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH51 OR8K3_HUMAN OR8K3 Olfactory receptor 8K3 312 35.5 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH56 O52N5_HUMAN OR52N5 Olfactory receptor 52N5 324 36.2 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH61 O51F2_HUMAN OR51F2 Olfactory receptor 51F2 342 38.5 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH63 O51H1_HUMAN OR51H1 Olfactory receptor 51H1 302 33.8 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH67 O52I2_HUMAN OR52I2 Olfactory receptor 52I2 350 38.4 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH73 OR4S2_HUMAN OR4S2 Olfactory receptor 4S2 311 35.2 11 Cell membrane 7 0 0 3 3 2003-10-31 Q8NH83 OR4A5_HUMAN OR4A5 Olfactory receptor 4A5 315 34.9 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH90 O5AK2_HUMAN OR5AK2 Olfactory receptor 5AK2 309 34.6 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NHB8 OR5K2_HUMAN OR5K2 Olfactory receptor 5K2 316 35.8 3 Cell membrane 7 0 0 1 3 2003-10-10 Q8NHC5 O14AG_HUMAN OR14A16 Olfactory receptor 14A16 309 34.3 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NHC7 O14CZ_HUMAN OR14C36 Olfactory receptor 14C36 312 34.8 1 Cell membrane 7 0 0 3 3 2003-11-21 Q8NHS4 CLHC1_HUMAN CLHC1 Clathrin heavy chain linker domain-containing protein 1 586 67.3 2 0 0 0 1 3 2008-03-18 Q8NHU0 CT453_HUMAN CT45A3 Cancer/testis antigen family 45 member A3 189 21.3 X Nucleus 0 0 0 1 3 2007-10-23 Q8TAW3 ZN671_HUMAN ZNF671 Zinc finger protein 671 534 61 19 Nucleus 0 0 0 1 3 2006-05-02 Q8TB22 SPT20_HUMAN SPATA20 Spermatogenesis-associated protein 20 786 87.9 17 Secreted 0 0 0 1 3 2007-02-20 Q8TDU5 VNRL4_HUMAN VN1R17P Putative vomeronasal receptor-like protein 4 208 23.9 Cell membrane 5 0 0 5 3 2008-03-18 Q8TEQ0 SNX29_HUMAN SNX29 Sorting nexin-29 813 91.3 16 0 0 0 1 3 2007-08-21 Q8TF20 ZN721_HUMAN ZNF721 Zinc finger protein 721 911 105.1 4 Nucleus 0 0 0 1 3 2007-10-02 Q8WUS8 D42E1_HUMAN SDR42E1 Short-chain dehydrogenase/reductase family 42E member 1 393 44.3 16 1.1.1.- Membrane 2 0 0 1 3 2008-04-29 Q8WUT9 S2543_HUMAN SLC25A43 Solute carrier family 25 member 43 341 37.7 X Mitochondrion inner membrane 6 0 0 1 3 2007-06-26 Q8WVL7 ANR49_HUMAN ANKRD49 Ankyrin repeat domain-containing protein 49 239 27.3 11 Nucleus 0 0 0 1 3 2006-06-27 Q8WW32 HMGB4_HUMAN HMGB4 High mobility group protein B4 186 22.5 1 Nucleus; Chromosome 0 0 0 1 3 2006-12-12 Q8WW33 GTSF1_HUMAN GTSF1 Gametocyte-specific factor 1 167 19.3 12 Cytoplasm 0 0 0 1 3 2003-01-10 Q8WWA1 TMM40_HUMAN TMEM40 Transmembrane protein 40 233 25.5 3 Membrane 2 0 0 1 3 2007-03-20 Q8WWX0 ASB5_HUMAN ASB5 Ankyrin repeat and SOCS box protein 5 329 36.3 4 0 0 0 1 3 2002-05-10 Q8WX39 LCN9_HUMAN LCN9 Epididymal-specific lipocalin-9 176 20.3 9 Secreted 0 0 0 1 3 2002-04-16 Q969M2 CXA10_HUMAN GJA10 Gap junction alpha-10 protein 543 61.9 6 Cell membrane; Cell junction 4 0 0 1 3 2008-01-15 Q969Y0 NXPE3_HUMAN NXPE3 NXPE family member 3 559 63.8 3 Secreted 0 0 0 1 3 2007-08-21 Q96EK2 PF21B_HUMAN PHF21B PHD finger protein 21B 531 57.5 22 0 0 0 1 3 2006-03-07 Q96ES6 S33A2_HUMAN SLC33A2 Solute carrier family 33 member 2 412 42.7 8 Cell membrane 12 0 0 1 3 2007-01-23 Q96EZ4 MYEOV_HUMAN MYEOV Myeloma-overexpressed gene protein 313 33.6 11 0 0 0 1 3 2003-08-22 Q96FB5 MT25B_HUMAN METTL25B Methyltransferase-like protein 25B 475 53 1 Membrane 1 0 0 1 3 2007-05-29 Q96IC2 REXO5_HUMAN REXO5 RNA exonuclease 5 774 86.9 16 3.1.-.- 0 0 0 1 3 2007-05-15 Q96K17 BT3L4_HUMAN BTF3L4 Transcription factor BTF3 homolog 4 158 17.3 1 0 0 0 1 3 2005-10-25 Q96KT7 S35G5_HUMAN SLC35G5 Solute carrier family 35 member G5 338 35.2 8 Membrane 9 0 0 1 3 2006-12-12 Q96L11 SOFU1_HUMAN SOFU1 Sperm-oocyte fusion protein 1 122 13.5 7 Secreted 0 0 0 2 3 2005-07-19 Q96M20 CNBD2_HUMAN CNBD2 Cyclic nucleotide-binding domain-containing protein 2 576 67.5 20 Cytoplasm 0 0 0 1 3 2002-11-15 Q96MR9 ZN560_HUMAN ZNF560 Zinc finger protein 560 790 91.1 19 Nucleus 0 0 0 1 3 2006-05-16 Q96N46 TTC14_HUMAN TTC14 Tetratricopeptide repeat protein 14 770 88.3 3 0 0 0 1 3 2004-02-16 Q96ND8 ZN583_HUMAN ZNF583 Zinc finger protein 583 569 66 19 Nucleus 0 0 0 1 3 2005-12-06 Q96NK8 NDF6_HUMAN NEUROD6 Neurogenic differentiation factor 6 337 38.7 7 Nucleus 0 0 0 1 3 2002-03-27 Q96NT1 NP1L5_HUMAN NAP1L5 Nucleosome assembly protein 1-like 5 182 19.6 4 Nucleus 0 0 0 1 3 2008-02-05 Q96P67 GPR82_HUMAN GPR82 Probable G protein-coupled receptor 82 336 38.4 X Cell membrane 6 0 0 1 3 2003-01-10 Q96PG2 M4A10_HUMAN MS4A10 Membrane-spanning 4-domains subfamily A member 10 267 29.7 11 Membrane 4 0 0 1 3 2004-03-01 Q96QK8 SIM14_HUMAN SMIM14 Small integral membrane protein 14 99 10.7 4 Endoplasmic reticulum membrane 1 0 0 1 3 2006-12-12 Q96R30 OR2V2_HUMAN OR2V2 Olfactory receptor 2V2 315 35.3 5 Cell membrane 7 0 0 3 3 2003-10-10 Q96R45 OR2A7_HUMAN OR2A7 Olfactory receptor 2A7 310 34.7 7 Cell membrane 7 0 0 2 3 2003-10-10 Q96RC9 OR8B4_HUMAN OR8B4 Olfactory receptor 8B4 309 34.4 11 Cell membrane 7 0 0 2 3 2002-05-10 Q96RM1 SPR2F_HUMAN SPRR2F Small proline-rich protein 2F 72 7.8 1 Cytoplasm 0 0 0 1 3 2004-03-15 Q96S19 MTL26_HUMAN METTL26 Methyltransferase-like 26 204 22.6 16 0 0 0 1 3 2008-05-20 Q96SL8 FIZ1_HUMAN FIZ1 Flt3-interacting zinc finger protein 1 496 52 19 Cytoplasm; Nucleus 0 0 0 1 3 2005-03-15 Q96T75 DSCR8_HUMAN DSCR8 Down syndrome critical region protein 8 97 11 0 0 0 1 3 2002-10-10 Q9BQD1 MCHL2_HUMAN PMCHL2 Putative pro-MCH-like protein 2 86 9.9 0 0 0 5 3 2005-07-19 Q9BQI9 NRIP2_HUMAN NRIP2 Nuclear receptor-interacting protein 2 281 31.3 12 Nucleus 0 0 0 1 3 2007-01-09 Q9BRU2 TCAL7_HUMAN TCEAL7 Transcription elongation factor A protein-like 7 100 12.3 X Nucleus 0 0 0 1 3 2006-05-30 Q9BXN6 SPNXD_HUMAN SPANXD Sperm protein associated with the nucleus on the X chromosome D 97 11 X Cytoplasm; Nucleus 0 0 0 1 3 2005-02-01 Q9BXU3 TX13A_HUMAN TEX13A Testis-expressed protein 13A 409 45.6 X 0 0 0 1 3 2004-07-19 Q9BXW7 HDHD5_HUMAN HDHD5 Haloacid dehalogenase-like hydrolase domain-containing 5 423 46.3 22 0 0 0 1 3 2002-04-16 Q9BY19 M4A8_HUMAN MS4A8 Membrane-spanning 4-domains subfamily A member 8 250 26.3 11 Membrane 4 0 0 1 3 2003-04-04 Q9BYG7 MSTRO_HUMAN MRO Protein maestro 248 29.1 18 Nucleus 0 0 0 1 3 2006-09-05 Q9BYJ0 FGFP2_HUMAN FGFBP2 Fibroblast growth factor-binding protein 2 223 24.6 4 Secreted 0 0 0 1 3 2006-07-11 Q9C010 IPKB_HUMAN PKIB cAMP-dependent protein kinase inhibitor beta 78 8.5 6 0 0 0 1 3 2001-09-26 Q9C0K3 ARP3C_HUMAN ACTR3C Actin-related protein 3C 210 23.7 7 0 0 0 2 3 2008-03-18 Q9GIP4 LAT1L_HUMAN SLC7A5P2 Putative L-type amino acid transporter 1-like protein IMAA 190 19.8 Membrane 3 0 0 5 3 2008-09-02 Q9GZK3 OR2B2_HUMAN OR2B2 Olfactory receptor 2B2 357 40.4 6 Cell membrane 7 0 0 2 3 2001-06-20 Q9GZM3 RPB1B_HUMAN POLR2J2 DNA-directed RNA polymerase II subunit RPB11-b1 115 13.1 7 Nucleus 0 0 0 1 3 2008-02-05 Q9GZU3 TM39B_HUMAN TMEM39B Transmembrane protein 39B 492 56.3 1 Endoplasmic reticulum membrane 8 0 0 1 3 2007-03-06 Q9H106 SIRPD_HUMAN SIRPD Signal-regulatory protein delta 197 21.7 20 Secreted 0 0 0 1 3 2003-08-29 Q9H114 CSTL1_HUMAN CSTL1 Cystatin-like 1 145 17 20 Secreted 0 0 0 2 3 2002-01-23 Q9H1C7 CYTM1_HUMAN CYSTM1 Cysteine-rich transmembrane module-containing protein 1 97 10.6 5 Membrane 1 0 0 1 3 2007-07-24 Q9H343 O51I1_HUMAN OR51I1 Olfactory receptor 51I1 314 35.5 11 Cell membrane 7 0 0 2 3 2001-06-20 Q9H346 O52D1_HUMAN OR52D1 Olfactory receptor 52D1 318 35.1 11 Cell membrane 7 0 0 2 3 2001-06-20 Q9H3H9 TCAL2_HUMAN TCEAL2 Transcription elongation factor A protein-like 2 227 25.9 X Nucleus 0 0 0 1 3 2006-05-30 Q9H3V2 MS4A5_HUMAN MS4A5 Membrane-spanning 4-domains subfamily A member 5 200 22.3 11 Membrane 4 0 0 2 3 2003-04-04 Q9H3W5 LRRN3_HUMAN LRRN3 Leucine-rich repeat neuronal protein 3 708 79.4 7 Membrane 1 0 0 1 3 2006-01-24 Q9H496 IFG15_HUMAN TOR1AIP2 Torsin-1A-interacting protein 2, isoform IFRG15 131 15.3 1 0 0 0 1 3 2013-02-06 Q9H6A0 DEN2D_HUMAN DENND2D DENN domain-containing protein 2D 471 53.7 1 Cytoplasm 0 0 0 1 3 2006-06-27 Q9H720 PG2IP_HUMAN CWH43 PGAP2-interacting protein 699 78.6 4 Membrane 10 0 0 1 3 2008-02-26 Q9H7L2 KI3X1_HUMAN KIR3DX1 Putative killer cell immunoglobulin-like receptor-like protein KIR3DX1 352 38.8 Secreted 0 0 0 5 3 2008-09-02 Q9H8G1 ZN430_HUMAN ZNF430 Zinc finger protein 430 570 66.3 19 Nucleus 0 0 0 1 3 2003-04-23 Q9H8M1 CQ10B_HUMAN COQ10B Coenzyme Q-binding protein COQ10 homolog B, mitochondrial 238 27.1 2 Mitochondrion inner membrane 0 0 0 1 3 2006-03-21 Q9H8S5 CCNP_HUMAN CCNP Cyclin-P 307 33.6 19 Nucleus 0 0 0 2 3 2006-12-12 Q9H9S3 S61A2_HUMAN SEC61A2 Protein transport protein Sec61 subunit alpha isoform 2 476 52.2 10 Endoplasmic reticulum membrane 10 0 0 1 3 2004-06-07 Q9HAH1 ZN556_HUMAN ZNF556 Zinc finger protein 556 456 51.6 19 Nucleus 0 0 0 1 3 2007-02-06 Q9HBJ0 PLAC1_HUMAN PLAC1 Placenta-specific protein 1 212 23.6 X Secreted 0 0 0 1 3 2006-10-03 Q9HC57 WFDC1_HUMAN WFDC1 WAP four-disulfide core domain protein 1 220 24 16 Secreted 0 0 0 1 3 2002-08-02 Q9HCZ1 ZN334_HUMAN ZNF334 Zinc finger protein 334 680 79.6 20 Nucleus 0 0 0 1 3 2002-01-23 Q9HD45 TM9S3_HUMAN TM9SF3 Transmembrane 9 superfamily member 3 589 67.9 10 Membrane 9 0 0 1 3 2001-04-27 Q9NNZ3 DNJC4_HUMAN DNAJC4 DnaJ homolog subfamily C member 4 241 27.6 11 Membrane 1 0 0 1 3 2001-10-18 Q9NQ35 NRIP3_HUMAN NRIP3 Nuclear receptor-interacting protein 3 241 27 11 0 0 0 1 3 2003-08-29 Q9NRC9 OTOR_HUMAN OTOR Otoraplin 128 14.3 20 Secreted 0 0 0 1 3 2001-02-21 Q9NRP2 COXM2_HUMAN CMC2 COX assembly mitochondrial protein 2 homolog 79 9.5 16 Mitochondrion 0 0 0 1 3 2003-10-24 Q9NU23 LYRM2_HUMAN LYRM2 LYR motif-containing protein 2 88 10.4 6 Mitochondrion 0 0 0 1 3 2006-10-03 Q9NVM1 EVA1B_HUMAN EVA1B Protein eva-1 homolog B 165 18.4 1 Membrane 1 0 0 1 3 2007-01-09 Q9NW61 PKHJ1_HUMAN PLEKHJ1 Pleckstrin homology domain-containing family J member 1 149 17.6 19 0 0 0 1 3 2007-11-13 Q9NXJ0 M4A12_HUMAN MS4A12 Membrane-spanning 4-domains subfamily A member 12 267 28.1 11 Membrane 4 0 0 1 3 2003-04-04 Q9NXS3 KLH28_HUMAN KLHL28 Kelch-like protein 28 571 64.2 14 0 0 0 1 3 2004-03-29 Q9NXT0 ZN586_HUMAN ZNF586 Zinc finger protein 586 402 46.4 19 Nucleus 0 0 0 1 3 2006-06-27 Q9NY87 SPNXC_HUMAN SPANXC Sperm protein associated with the nucleus on the X chromosome C 97 11 X Cytoplasm; Nucleus 0 0 0 1 3 2005-02-01 Q9NZP5 O5AC2_HUMAN OR5AC2 Olfactory receptor 5AC2 309 35.3 3 Cell membrane 7 0 0 3 3 2003-10-10 Q9P1A2 PP4RL_HUMAN PPP4R1L Putative serine/threonine-protein phosphatase 4 regulatory subunit 1-like 415 45.9 0 0 0 5 3 2004-03-01 Q9P255 ZN492_HUMAN ZNF492 Zinc finger protein 492 531 61.2 19 Nucleus 0 0 0 1 3 2002-02-21 Q9P2D6 F135A_HUMAN FAM135A Protein FAM135A 1515 169.8 6 0 0 0 1 3 2008-01-15 Q9P2S6 ANKY1_HUMAN ANKMY1 Ankyrin repeat and MYND domain-containing protein 1 941 105.5 2 0 0 0 1 3 2003-05-16 Q9UGF5 O14J1_HUMAN OR14J1 Olfactory receptor 14J1 321 35.9 6 Cell membrane 7 0 0 2 3 2001-06-20 Q9UJN7 ZN391_HUMAN ZNF391 Zinc finger protein 391 358 40.7 6 Nucleus 0 0 0 1 3 2007-08-21 Q9UJV8 PURG_HUMAN PURG Purine-rich element-binding protein gamma 347 39.6 8 Nucleus 0 0 0 1 3 2006-10-31 Q9UKI3 VPRE3_HUMAN VPREB3 Pre-B lymphocyte protein 3 123 13.7 22 0 0 0 1 3 2000-12-01 Q9UKY7 CDV3_HUMAN CDV3 Protein CDV3 homolog 258 27.3 3 Cytoplasm 0 0 0 1 3 2007-09-11 Q9UQ74 PSG8_HUMAN PSG8 Pregnancy-specific beta-1-glycoprotein 8 426 47.8 19 Secreted 0 0 0 1 3 2000-05-30 Q9Y2Q1 ZN257_HUMAN ZNF257 Zinc finger protein 257 563 65.8 19 Nucleus 0 0 0 1 3 2001-01-24 Q9Y4E6 WDR7_HUMAN WDR7 WD repeat-containing protein 7 1490 163.8 18 0 0 0 1 3 2001-01-11 Q9Y5P0 O51B4_HUMAN OR51B4 Olfactory receptor 51B4 310 34.9 11 Cell membrane 7 0 0 2 3 2001-06-20 Q9Y5V0 ZN706_HUMAN ZNF706 Transcriptional regulator ZNF706 76 8.5 8 Cytoplasm; Nucleus 0 0 0 1 3 2005-10-25 A0A075B6I1 LV460_HUMAN IGLV4-60 Immunoglobulin lambda variable 4-60 120 13 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6I7 LV548_HUMAN IGLV5-48 Probable non-functional immunoglobulin lambda variable 5-48 105 11.2 22 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A075B6J6 LV322_HUMAN IGLV3-22 Immunoglobulin lambda variable 3-22 115 12.5 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6K0 LV316_HUMAN IGLV3-16 Immunoglobulin lambda variable 3-16 115 12.5 22 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A075B6L6 TVB73_HUMAN TRBV7-3 Probable non-functional T cell receptor beta variable 7-3 115 12.4 7 Cell membrane 0 0 0 1 3 2020-10-07 A0A075B6N2 TVBT1_HUMAN TRBV20-1 T cell receptor beta variable 20-1 111 12.2 7 Cell membrane 0 0 0 1 3 2018-05-23 A0A087X0M5 TVB18_HUMAN TRBV18 T cell receptor beta variable 18 115 13 7 Cell membrane 0 0 0 1 3 2018-05-23 A0A087X179 TBC3E_HUMAN TBC1D3E TBC1 domain family member 3E 549 62.1 17 Cell membrane 0 0 0 2 3 2015-01-07 A0A096LNW5 NT2NR_HUMAN NOTCH2NLR Notch homolog 2 N-terminal-like protein R 274 30.1 1 0 0 0 2 3 2023-02-22 A0A0A6YYC5 TVA14_HUMAN TRAV14DV4 T cell receptor alpha variable 14/delta variable 4 116 12.9 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0A6YYK1 TVA81_HUMAN TRAV8-1 T cell receptor alpha variable 8-1 113 12.8 14 Cell membrane 0 0 0 3 3 2018-02-28 A0A0A6YYL3 POTEB_HUMAN POTEB POTE ankyrin domain family member B 544 61.7 15 0 0 0 1 3 2018-03-28 A0A0B4J249 TVA5_HUMAN TRAV5 T cell receptor alpha variable 5 113 13 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0B4J266 TVA41_HUMAN TRAV41 T cell receptor alpha variable 41 112 12.4 14 Cell membrane 0 0 0 1 3 2018-02-28 A0A0C4DH24 KV621_HUMAN IGKV6-21 Immunoglobulin kappa variable 6-21 114 12.4 2 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0C4DH33 HV124_HUMAN IGHV1-24 Immunoglobulin heavy variable 1-24 117 12.8 14 Secreted; Cell membrane 0 0 0 1 3 2016-11-30 A0A0C4DH36 HV338_HUMAN IGHV3-38 Probable non-functional immunoglobulin heavy variable 3-38 116 12.8 14 Secreted; Cell membrane 0 0 0 1 3 2019-11-13 A0A0C4DH43 HV70D_HUMAN IGHV2-70D Immunoglobulin heavy variable 2-70D 119 13.3 14 Secreted; Cell membrane 0 0 0 1 3 2017-09-27 A0A0C4DH73 KV112_HUMAN IGKV1-12 Immunoglobulin kappa variable 1-12 117 12.6 2 Secreted; Cell membrane 0 0 0 3 3 2016-11-02 A0A0G2JS06 LV539_HUMAN IGLV5-39 Immunoglobulin lambda variable 5-39 123 13.4 Secreted; Cell membrane 0 0 0 1 3 2017-01-18 A0A0J9YXY3 TVB62_HUMAN TRBV6-2 T cell receptor beta variable 6-2 114 12.5 7 Cell membrane 0 0 0 3 3 2018-04-25 A0A0K0K1C4 TVB27_HUMAN TRBV27 T cell receptor beta variable 27 114 12.8 7 Cell membrane 0 0 0 1 3 2018-07-18 A0A0U1RRN3 MISFA_HUMAN MISFA Mitochondrial sheath formation-associated protein 59 7 11 Mitochondrion outer membrane 2 0 0 3 3 2018-06-20 A0A1B0GX68 TVB2_HUMAN TRBV2 T cell receptor beta variable 2 115 13.4 7 Cell membrane 0 0 0 1 3 2018-02-28 A0A1B0GXF2 TVB72_HUMAN TRBV7-2 T cell receptor beta variable 7-2 115 12.5 7 Cell membrane 0 0 0 1 3 2018-04-25 A0A1W2PQJ5 S72L3_HUMAN SSU72L3 RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 3 194 22.4 11 Nucleus 0 0 0 3 3 2023-02-22 A0A3G1DIU6 SHLP2_HUMAN MT-RNR2 Small humanin-like peptide 2 26 3 MT Secreted; Mitochondrion inner membrane 0 0 0 1 3 2026-01-28 A0A599 TVB56_HUMAN TRBV5-6 T cell receptor beta variable 5-6 114 12.6 7 Cell membrane 0 0 0 3 3 2018-03-28 A0A7L8Y648 MIAC_HUMAN AQP5-AS1 Micropeptide inhibiting actin cytoskeleton 51 5.5 0 0 0 1 3 2023-11-08 A0JD32 TV382_HUMAN TRAV38-2DV8 T cell receptor alpha variable 38-2/delta variable 8 116 13.3 14 Cell membrane 0 0 0 3 3 2018-02-28 A1L3X4 MT1DP_HUMAN MT1DP Putative metallothionein MT1DP 49 5 0 0 0 5 3 2008-07-01 A2NJV5 KV229_HUMAN IGKV2-29 Immunoglobulin kappa variable 2-29 120 13.1 Secreted; Cell membrane 0 0 0 1 3 2017-04-12 A2RRL7 TM213_HUMAN TMEM213 Transmembrane protein 213 107 11.5 7 Endoplasmic reticulum membrane 1 0 0 1 3 2008-05-20 A6NC86 PINLY_HUMAN PINLYP phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein 204 21.9 19 Secreted 0 0 0 1 3 2008-04-29 A6NCM1 DC11L_HUMAN DRC11L Dynein regulatory complex subunit like-11 818 95.1 7 0 0 0 1 3 2008-06-10 A6NDR6 ME3L1_HUMAN MEIS3P1 Putative homeobox protein Meis3-like 1 274 30.2 Nucleus 0 0 0 5 3 2008-09-02 A6NDX5 ZN840_HUMAN ZNF840P Zinc finger protein 840 716 83.2 Nucleus 0 0 0 1 3 2008-04-29 A6NER0 TBC3F_HUMAN TBC1D3F TBC1 domain family member 3F 549 62.2 17 Cell membrane 0 0 0 1 3 2008-07-22 A6NES4 MRO2A_HUMAN MROH2A Maestro heat-like repeat-containing protein family member 2A 1674 189.6 2 0 0 0 1 3 2008-09-02 A6NF34 ANTRL_HUMAN ANTXRL Anthrax toxin receptor-like 631 70.6 10 Membrane 1 0 0 1 3 2008-04-29 A6NHA9 O4C46_HUMAN OR4C46 Olfactory receptor 4C46 309 34.5 11 Cell membrane 7 0 0 3 3 2007-11-13 A6NHS7 MANS4_HUMAN MANSC4 MANSC domain-containing protein 4 340 37.9 12 Membrane 1 0 0 3 3 2008-09-02 A6NJG6 ARGFX_HUMAN ARGFX Arginine-fifty homeobox 315 35.6 3 Nucleus 0 0 0 2 3 2007-11-13 A6NJZ3 O6C65_HUMAN OR6C65 Olfactory receptor 6C65 312 35.2 12 Cell membrane 7 0 0 2 3 2007-11-13 A6NL08 O6C75_HUMAN OR6C75 Olfactory receptor 6C75 312 35.4 12 Cell membrane 7 0 0 3 3 2007-11-13 A6NM43 TCPQL_HUMAN CCT8L1P Putative T-complex protein 1 subunit theta-like 1 557 59.5 Cytoplasm 0 0 0 5 3 2008-09-02 A6NMT0 DBX1_HUMAN DBX1 Homeobox protein DBX1 343 37.3 11 Nucleus 0 0 0 1 3 2007-09-11 A6NNA2 SRRM3_HUMAN SRRM3 Serine/arginine repetitive matrix protein 3 597 65.2 0 0 0 1 3 2008-06-10 A7E2U8 CFA96_HUMAN CFAP96 Cilia-and flagella-associated protein 96 309 34.4 4 Cytoplasm 0 0 0 1 3 2008-07-01 A8K0R7 ZN839_HUMAN ZNF839 Zinc finger protein 839 811 87.5 14 0 0 0 1 3 2008-04-08 A8K5M9 CO062_HUMAN C15orf62 Uncharacterized protein C15orf62, mitochondrial 175 19.7 15 Mitochondrion 0 0 0 1 3 2008-04-29 A8MPX8 PP2D1_HUMAN PP2D1 Protein phosphatase 2C-like domain-containing protein 1 630 71.6 3 0 0 0 1 3 2008-02-26 A8MT70 ZBBX_HUMAN ZBBX Zinc finger B-box domain-containing protein 1 800 91.4 3 0 0 0 1 3 2008-03-18 A8MVS5 HIDE1_HUMAN HIDE1 Protein HIDE1 230 24.8 19 Membrane 1 0 0 1 3 2008-06-10 A8MWA4 Z705E_HUMAN ZNF705EP Putative zinc finger protein 705EP 300 34.7 11 Nucleus 0 0 0 5 3 2008-07-22 A8MYZ6 FOXO6_HUMAN FOXO6 Forkhead box protein O6 492 50.6 1 Cytoplasm; Nucleus 0 0 0 1 3 2008-02-05 A8MZ26 EFCB9_HUMAN EFCAB9 EF-hand calcium-binding domain-containing protein 9 197 23.9 5 Cytoplasm; Cell projection 0 0 0 1 3 2008-06-10 B2CW77 KILIN_HUMAN KLLN Killin 178 20 10 Nucleus 0 1 Cowden syndrome 4 0 1 3 2008-09-02 B2RN74 O11HC_HUMAN OR11H12 Olfactory receptor 11H12 326 36.5 14 Cell membrane 7 0 0 2 3 2008-07-22 C9J1S8 TR49D_HUMAN TRIM49D1 Tripartite motif-containing protein 49D 452 52.5 11 0 0 0 1 3 2010-07-13 C9JDP6 CLD25_HUMAN CLDN25 Claudin-25 229 25.4 11 Cell junction; Cell membrane 4 0 0 3 3 2010-07-13 D6RCP7 U17LJ_HUMAN USP17L19 Ubiquitin carboxyl-terminal hydrolase 17-like protein 19 530 59.7 4 3.4.19.12 Nucleus; Endoplasmic reticulum 0 0 0 3 3 2013-02-06 E9PB15 PTG3L_HUMAN PTGES3L Putative protein PTGES3L 166 19.1 17 0 0 0 1 3 2012-09-05 E9PQ53 NDUCR_HUMAN NDUFC2-KCTD14 NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 114 13.4 11 Mitochondrion inner membrane 1 0 0 1 3 2013-06-26 F7VJQ1 APRIO_HUMAN PRNP Alternative prion protein 73 8.7 Mitochondrion outer membrane 1 0 0 1 3 2012-11-28 G5E9R7 KR416_HUMAN KRTAP4-16 Keratin-associated protein 4-16 235 24.6 17 0 0 0 1 3 2022-02-23 I3L273 GFY_HUMAN GFY Golgi-associated olfactory signaling regulator 518 56.1 19 Golgi apparatus membrane 1 0 0 1 3 2013-12-11 O00479 HMGN4_HUMAN HMGN4 High mobility group nucleosome-binding domain-containing protein 4 90 9.5 6 Nucleus 0 0 0 1 3 2002-01-31 O14753 OVOL1_HUMAN OVOL1 Putative transcription factor Ovo-like 1 267 30.3 11 Nucleus 0 0 0 1 3 2000-12-01 O15442 MPPD1_HUMAN MPPED1 Metallophosphoesterase domain-containing protein 1 326 37.2 22 3.1.-.- 0 0 0 1 3 2000-05-30 O43325 LYRM1_HUMAN LYRM1 LYR motif-containing protein 1 122 14.3 16 Nucleus 0 0 0 1 3 2001-01-24 O43869 OR2T1_HUMAN OR2T1 Olfactory receptor 2T1 369 42 Cell membrane 7 0 0 3 3 2001-06-20 O60309 L37A3_HUMAN LRRC37A3 Leucine-rich repeat-containing protein 37A3 1634 180.6 17 Membrane 1 0 0 1 3 2001-02-21 O60431 OR1I1_HUMAN OR1I1 Olfactory receptor 1I1 355 39.3 19 Cell membrane 7 0 0 2 3 2001-06-20 O60739 EIF1B_HUMAN EIF1B Eukaryotic translation initiation factor 1b 113 12.8 3 0 0 0 1 3 2000-05-30 O75290 Z780A_HUMAN ZNF780A Zinc finger protein 780A 641 74.5 19 Nucleus 0 0 0 1 3 2006-12-12 O75333 TBX10_HUMAN TBX10 T-box transcription factor TBX10 385 42.3 11 Nucleus 0 0 0 2 3 2000-12-01 O75949 NALF2_HUMAN NALF2 NALCN channel auxiliary factor 2 472 52.5 X Membrane 2 0 0 1 3 2000-05-30 O76100 OR7AA_HUMAN OR7A10 Olfactory receptor 7A10 309 34.4 19 Cell membrane 7 0 0 3 3 2001-06-20 O95006 OR2F2_HUMAN OR2F2 Olfactory receptor 2F2 317 35.3 7 Cell membrane 7 0 0 2 3 2001-06-20 O95156 NXPH2_HUMAN NXPH2 Neurexophilin-2 264 29.9 2 Secreted 0 0 0 1 3 2000-12-01 O95502 NPTXR_HUMAN NPTXR Neuronal pentraxin receptor 500 52.8 22 Membrane 1 0 0 1 3 2001-08-29 O95521 PRAM1_HUMAN PRAMEF1 PRAME family member 1 474 55.1 1 0 0 0 2 3 2000-05-30 P0C5Y4 KRA14_HUMAN KRTAP1-4 Keratin-associated protein 1-4 121 12.3 17 0 0 0 1 3 2007-12-04 P0C6S8 LIGO3_HUMAN LINGO3 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 592 64.9 19 Membrane 1 0 0 1 3 2008-04-08 P0C7N1 OR8U8_HUMAN OR8U8 Olfactory receptor 8U8 319 36.3 Cell membrane 7 0 0 3 3 2008-06-10 P0C7Q6 S35G6_HUMAN SLC35G6 Solute carrier family 35 member G6 338 35.1 17 Membrane 9 0 0 2 3 2008-07-01 P0C7V7 SC11B_HUMAN SEC11B Putative signal peptidase complex catalytic subunit SEC11B 166 19.2 3.4.21.89 Membrane 1 0 0 5 3 2008-07-22 P0C881 R10B1_HUMAN RSPH10B Radial spoke head 10 homolog B 870 100.6 7 Cytoplasm; Cell projection 0 0 0 2 3 2008-09-02 P0CG22 DR4L1_HUMAN DHRS4L1 Putative dehydrogenase/reductase SDR family member 4-like 1 281 30.6 1.1.-.- 0 0 0 5 3 2010-06-15 P0CI26 TR49C_HUMAN TRIM49C Tripartite motif-containing protein 49C 452 52.9 11 0 0 0 1 3 2010-11-02 P0CK97 S35E2_HUMAN SLC35E2A Solute carrier family 35 member E2A 266 29.1 1 Membrane 4 0 0 1 3 2011-03-08 P0DJD1 RGPD2_HUMAN RGPD2 RANBP2-like and GRIP domain-containing protein 2 1756 197.3 2 0 0 0 1 3 2012-01-25 P0DKB5 TPBGL_HUMAN TPBGL Trophoblast glycoprotein-like 382 40.4 11 Membrane 1 0 0 1 3 2012-10-03 P0DN81 O13C7_HUMAN OR13C7 Olfactory receptor 13C7 318 34.9 Cell membrane 7 0 0 3 3 2016-02-17 P0DP03 HVC05_HUMAN IGHV3-30-5 Immunoglobulin heavy variable 3-30-5 117 12.9 14 Secreted; Cell membrane 0 0 0 3 3 2017-04-12 P0DP72 VSXL2_HUMAN VSIG10L2 V-set and immunoglobulin domain-containing protein 10-like 2 767 81.6 11 Membrane 1 0 0 3 3 2017-07-05 P0DTL5 TM276_HUMAN TMEM276 Transmembrane protein 276 192 19.9 8 Membrane 4 0 0 1 3 2022-10-12 P0DTW3 HV384_HUMAN IGHV1-38-4 Probable non-functional immunoglobulin heavy variable 1-38-4 117 13.1 Secreted; Cell membrane 0 0 0 1 3 2020-08-12 P11465 PSG2_HUMAN PSG2 Pregnancy-specific beta-1-glycoprotein 2 335 37.2 19 Secreted 0 0 0 1 3 1989-10-01 P20962 PTMS_HUMAN PTMS Parathymosin 102 11.5 12 0 0 0 1 3 1991-02-01 P35410 MAS1L_HUMAN MAS1L Mas-related G protein-coupled receptor MRG 378 42.4 6 Cell membrane 7 0 0 2 3 1994-06-01 P43359 MAGA5_HUMAN MAGEA5P Putative melanoma-associated antigen 5P 124 13 0 0 0 5 3 1995-11-01 P48741 HSP77_HUMAN HSPA7 Putative heat shock 70 kDa protein 7 367 40.2 0 0 0 5 3 1996-02-01 P51523 ZNF84_HUMAN ZNF84 Zinc finger protein 84 738 85.5 12 Nucleus 0 0 0 1 3 1996-10-01 P51786 ZN157_HUMAN ZNF157 Zinc finger protein 157 506 58.3 X Nucleus 0 0 0 1 3 1996-10-01 P58180 OR4D2_HUMAN OR4D2 Olfactory receptor 4D2 307 35 17 Cell membrane 7 0 0 2 3 2001-06-20 P59861 D131A_HUMAN DEFB131A Beta-defensin 131A 70 8.2 4 Secreted 0 0 0 1 3 2003-09-26 P59922 OR2B8_HUMAN OR2B8 Olfactory receptor 2B8 312 35 Cell membrane 7 0 0 3 3 2003-10-10 P60673 PROF3_HUMAN PFN3 Profilin-3 137 14.6 5 Cytoplasm; Nucleus 0 0 0 1 3 2004-03-29 P61129 ZC3H6_HUMAN ZC3H6 Zinc finger CCCH domain-containing protein 6 1189 131.7 2 0 0 0 1 3 2004-05-10 P62685 GAK8_HUMAN ERVK-8 Endogenous retrovirus group K member 8 Gag polyprotein 647 72.2 Cell membrane 0 0 0 1 3 2004-07-19 P63119 VPK21_HUMAN ERVK-21 Endogenous retrovirus group K member 21 Pro protein 156 17.1 0 0 0 3 3 2004-09-13 P63125 VPK25_HUMAN ERVK-25 Endogenous retrovirus group K member 25 Pro protein 156 17.1 0 0 0 3 3 2004-09-13 P63131 VPK7_HUMAN ERVK-7 Endogenous retrovirus group K member 7 Pro protein 156 17.1 0 0 0 3 3 2004-09-13 P63302 SELW_HUMAN SELENOW Selenoprotein W 87 9.4 19 Cytoplasm 0 0 0 1 3 2004-10-11 P84157 MXRA7_HUMAN MXRA7 Matrix-remodeling-associated protein 7 204 21.5 17 Membrane 1 0 0 1 3 2004-09-27 Q05BV3 EMAL5_HUMAN EML5 Echinoderm microtubule-associated protein-like 5 1969 219.4 14 Cytoplasm 0 0 0 1 3 2007-04-17 Q08AI6 S38AB_HUMAN SLC38A11 Putative sodium-coupled neutral amino acid transporter 11 406 44.8 2 Membrane 10 0 0 1 3 2008-03-18 Q08AN1 ZN616_HUMAN ZNF616 Zinc finger protein 616 781 90.3 19 Nucleus 0 0 0 1 3 2007-03-20 Q0P651 ABD18_HUMAN ABHD18 Cardiolipin-specific deacylase, mitochondrial 464 53 4 Mitochondrion 0 0 0 1 3 2007-09-11 Q0VGE8 ZN816_HUMAN ZNF816 Zinc finger protein 816 651 75.7 19 Nucleus 0 0 0 1 3 2007-07-10 Q13072 BAGE1_HUMAN BAGE B melanoma antigen 1 43 4.8 Secreted 0 0 0 1 3 1999-07-15 Q13296 SG2A2_HUMAN SCGB2A2 Mammaglobin-A 93 10.5 11 Secreted 0 0 0 1 3 1997-11-01 Q14761 PTCA_HUMAN PTPRCAP Protein tyrosine phosphatase receptor type C-associated protein 206 21.2 11 Membrane 1 0 0 1 3 2002-07-26 Q15032 R3HD1_HUMAN R3HDM1 R3H domain-containing protein 1 1099 120.7 2 0 0 0 1 3 1998-07-15 Q15270 NKX11_HUMAN NKX1-1 NK1 transcription factor-related protein 1 448 44 4 Nucleus 0 0 0 2 3 2008-05-20 Q15486 GUSP1_HUMAN GUSBP1 Putative inactive beta-glucuronidase-like protein SMA3 140 15.4 0 0 0 5 3 2002-03-05 Q16626 MEA1_HUMAN MEA1 Male-enhanced antigen 1 185 19.9 6 0 0 0 1 3 1997-11-01 Q1W4C9 ISK13_HUMAN SPINK13 Serine protease inhibitor Kazal-type 13 94 11.1 5 Secreted 0 0 0 1 3 2008-07-22 Q1ZYL8 IZUM4_HUMAN IZUMO4 Izumo sperm-egg fusion protein 4 232 26.5 19 Secreted 0 0 0 1 3 2007-02-20 Q2M218 ZN630_HUMAN ZNF630 Zinc finger protein 630 657 76.1 X Nucleus 0 0 0 1 3 2006-05-16 Q2M3W8 ZN181_HUMAN ZNF181 Zinc finger protein 181 571 65.8 19 Nucleus 0 0 0 1 3 2006-04-04 Q2QD12 RPEL1_HUMAN RPEL1 Ribulose-phosphate 3-epimerase-like protein 1 228 25 10 5.1.3.1 0 0 0 1 3 2014-02-19 Q2TAA8 TXIP1_HUMAN TSNAXIP1 Translin-associated factor X-interacting protein 1 658 76.8 16 Cytoplasm 0 0 0 1 3 2008-03-18 Q2VY69 ZN284_HUMAN ZNF284 Zinc finger protein 284 593 69 19 Nucleus 0 0 0 1 3 2007-03-20 Q30KP9 DB135_HUMAN DEFB135 Beta-defensin 135 77 8.8 8 Secreted 0 0 0 3 3 2005-12-20 Q30KQ1 DB133_HUMAN DEFB133 Beta-defensin 133 61 7.2 6 Secreted 0 0 0 3 3 2005-12-20 Q3LI81 KR271_HUMAN KRTAP27-1 Keratin-associated protein 27-1 207 22.3 21 0 0 0 2 3 2007-10-23 Q3MIX3 ADCK5_HUMAN ADCK5 Uncharacterized aarF domain-containing protein kinase 5 580 65.8 8 2.7.11.- Membrane 1 0 0 1 3 2007-01-09 Q3SXZ3 ZN718_HUMAN ZNF718 Zinc finger protein 718 478 55.4 4 Nucleus 0 0 0 1 3 2006-05-02 Q3ZCQ2 AX2R_HUMAN ANXA2R Annexin-2 receptor 193 21.7 5 0 0 0 1 3 2007-07-24 Q495B1 AKD1A_HUMAN ANKDD1A Ankyrin repeat and death domain-containing protein 1A 522 57.6 15 0 0 0 1 3 2007-05-15 Q499Z4 ZN672_HUMAN ZNF672 Zinc finger protein 672 452 50.2 1 Nucleus 0 0 0 1 3 2006-05-02 Q49AA0 ZFP69_HUMAN ZFP69 Zinc finger protein 69 homolog 526 61.2 1 Nucleus 0 0 0 1 3 2006-10-03 Q4G0I0 UQCC4_HUMAN UQCC4 Ubiquinol-cytochrome c reductase complex assembly factor 4 132 15 16 Mitochondrion inner membrane 1 0 0 1 3 2008-09-02 Q502W7 CCD38_HUMAN CCDC38 Coiled-coil domain-containing protein 38 563 65.3 12 Cytoplasm; Cell projection 0 0 0 1 3 2006-05-16 Q52M93 Z585B_HUMAN ZNF585B Zinc finger protein 585B 769 88.1 19 Nucleus 0 0 0 1 3 2005-10-25 Q53S58 TM177_HUMAN TMEM177 Transmembrane protein 177 311 33.8 2 Mitochondrion inner membrane 3 0 0 1 3 2007-04-03 Q5BJE1 CC178_HUMAN CCDC178 Coiled-coil domain-containing protein 178 867 102 18 Cytoplasm 0 0 0 1 3 2006-02-21 Q5EBL2 ZN628_HUMAN ZNF628 Zinc finger protein 628 1059 110.9 19 Nucleus 0 0 0 1 3 2006-07-11 Q5H9R4 ARMX4_HUMAN ARMCX4 Armadillo repeat-containing X-linked protein 4 2290 236 X Membrane 1 0 0 1 3 2005-12-20 Q5I0X7 TTC32_HUMAN TTC32 Tetratricopeptide repeat protein 32 151 17.3 2 0 0 0 1 3 2006-12-12 Q5JRC9 FA47A_HUMAN FAM47A Protein FAM47A 791 90.6 X 0 0 0 1 3 2005-07-19 Q5JS37 NHLC3_HUMAN NHLRC3 NHL repeat-containing protein 3 347 38.3 13 Secreted 0 0 0 1 3 2008-02-05 Q5JSJ4 INT6L_HUMAN INTS6L Integrator complex subunit 6-like 898 100.8 X 0 0 0 1 3 2006-01-10 Q5SXM1 ZN678_HUMAN ZNF678 Zinc finger protein 678 525 61.4 1 Nucleus 0 0 0 1 3 2006-05-02 Q5SZD1 CF141_HUMAN C6orf141 Uncharacterized protein C6orf141 244 26.8 6 0 0 0 1 3 2005-07-19 Q5T1A1 DCST2_HUMAN DCST2 DC-STAMP domain-containing protein 2 773 86.2 1 Cytoplasmic vesicle 6 0 0 1 3 2007-03-06 Q5T1J5 CHCH9_HUMAN CHCHD2P9 Putative coiled-coil-helix-coiled-coil-helix domain-containing protein CHCHD2P9, mitochondrial 151 15.5 Mitochondrion 0 0 0 5 3 2008-01-15 Q5T5J6 SWT1_HUMAN SWT1 Transcriptional protein SWT1 900 103.2 1 0 0 0 1 3 2006-10-03 Q5T9S5 CCD18_HUMAN CCDC18 Coiled-coil domain-containing protein 18 1454 169 1 Cytoplasm 0 0 0 1 3 2007-04-17 Q5TEA3 DAAF9_HUMAN DNAAF9 Dynein axonemal assembly factor 9 1177 132.3 20 0 0 0 1 3 2006-05-16 Q5TG30 RHG40_HUMAN ARHGAP40 Rho GTPase-activating protein 40 675 74.5 20 0 0 0 1 3 2008-04-29 Q5TGY1 TMCO4_HUMAN TMCO4 Transmembrane and coiled-coil domain-containing protein 4 634 67.9 1 Membrane 3 0 0 1 3 2007-10-02 Q5VT79 AXA81_HUMAN ANXA8L1 Annexin A8-like protein 1 327 36.9 10 0 0 0 1 3 2008-04-08 Q5VUY0 ADCL3_HUMAN AADACL3 Arylacetamide deacetylase-like 3 407 46.2 1 3.1.1.- 0 0 0 2 3 2006-12-12 Q5VWI1 TCRGL_HUMAN TCERG1L Transcription elongation regulator 1-like protein 586 65.7 10 0 0 0 1 3 2007-12-04 Q5VZ03 NXNL2_HUMAN NXNL2 Nucleoredoxin-like protein 2 156 17.6 9 0 0 0 1 3 2006-04-04 Q5VZ46 K1614_HUMAN KIAA1614 Uncharacterized protein KIAA1614 1190 126.6 1 0 0 0 1 3 2008-01-15 Q5VZ66 JKIP3_HUMAN JAKMIP3 Janus kinase and microtubule-interacting protein 3 844 98.5 10 Golgi apparatus 0 0 0 1 3 2008-03-18 Q5VZ72 IZUM3_HUMAN IZUMO3 Izumo sperm-egg fusion protein 3 239 27.8 9 Cell membrane; Cytoplasmic vesicle 1 0 0 1 3 2008-07-01 Q5W0B7 TM236_HUMAN TMEM236 Transmembrane protein 236 351 39.7 10 Membrane 6 0 0 1 3 2005-08-16 Q5XUX1 FBXW9_HUMAN FBXW9 F-box/WD repeat-containing protein 9 458 50.8 19 0 0 0 1 3 2005-03-01 Q64ET8 FRG2_HUMAN FRG2 Protein FRG2 278 30.5 4 Nucleus 0 0 0 2 3 2007-09-11 Q658K8 EF1DL_HUMAN EEF1DP3 Putative elongation factor 1-delta-like protein 133 14.1 0 0 0 5 3 2008-09-02 Q6AHZ1 Z518A_HUMAN ZNF518A Zinc finger protein 518A 1483 166.8 10 Nucleus 0 0 0 1 3 2006-06-27 Q6IF63 O52W1_HUMAN OR52W1 Olfactory receptor 52W1 320 34.4 11 Cell membrane 7 0 0 1 3 2005-12-20 Q6IF82 O4A47_HUMAN OR4A47 Olfactory receptor 4A47 309 34.8 11 Cell membrane 7 0 0 3 3 2005-12-20 Q6JVE6 LCN10_HUMAN LCN10 Epididymal-specific lipocalin-10 187 20.8 9 Secreted 0 0 0 1 3 2005-03-29 Q6NT52 CGB2_HUMAN CGB2 Choriogonadotropin subunit beta variant 2 163 17.4 19 Secreted 0 0 0 2 3 2008-07-01 Q6NVV9 ADAM5_HUMAN ADAM5 Putative disintegrin and metalloproteinase domain-containing protein 5 412 47.2 0 0 0 5 3 2008-09-02 Q6P093 ADCL2_HUMAN AADACL2 Arylacetamide deacetylase-like 2 401 46.1 3 3.1.1.- Secreted 0 0 0 1 3 2008-01-15 Q6P474 PDXD2_HUMAN PDXDC2P Putative pyridoxal-dependent decarboxylase domain-containing protein 2 469 51.8 4.1.1.- 0 0 0 5 3 2007-11-13 Q6P9A1 ZN530_HUMAN ZNF530 Zinc finger protein 530 599 68.8 19 Nucleus 0 0 0 1 3 2007-10-02 Q6PEW0 PRS54_HUMAN PRSS54 Inactive serine protease 54 395 43.8 16 Secreted 0 0 0 1 3 2007-05-29 Q6PG37 ZN790_HUMAN ZNF790 Zinc finger protein 790 636 74.6 19 Nucleus 0 0 0 1 3 2006-11-28 Q6PI97 HOATZ_HUMAN HOATZ Cilia- and flagella-associated protein HOATZ 169 19.3 11 Cytoplasm; Cell projection 0 0 0 1 3 2008-04-08 Q6S545 POTEH_HUMAN POTEH POTE ankyrin domain family member H 545 61 22 0 0 0 1 3 2004-11-23 Q6UQ28 PLET1_HUMAN PLET1 Placenta-expressed transcript 1 protein 207 23.4 11 Apical cell membrane 0 0 0 2 3 2008-02-26 Q6URK8 SMIP8_HUMAN SPMIP8 Sperm microtubule inner protein 8 216 24.8 16 Cytoplasm 0 0 0 1 3 2008-03-18 Q6UWS5 PT117_HUMAN PET117 Protein PET117 homolog, mitochondrial 81 9.2 20 Mitochondrion 0 1 Mitochondrial complex IV deficiency, nuclear type 19 0 1 3 2012-03-21 Q6UWU2 GLB1L_HUMAN GLB1L Beta-galactosidase-1-like protein 654 74.2 2 3.2.1.23 0 0 0 1 3 2008-01-15 Q6UX52 IL40_HUMAN C17orf99 Protein IL-40 265 29.1 17 Secreted 0 0 0 1 3 2007-01-23 Q6UX82 LYPD8_HUMAN LYPD8 Ly6/PLAUR domain-containing protein 8 237 25.3 1 Cell membrane; Secreted 0 0 0 1 3 2008-02-05 Q6UXT6 OR9H1_HUMAN OR9H1 Olfactory receptor OR9H1 308 34.2 Cell membrane 7 0 0 2 3 2025-02-05 Q6ZN79 Z705A_HUMAN ZNF705A Zinc finger protein 705A 300 34.7 12 Nucleus 0 0 0 2 3 2006-05-02 Q6ZN84 CCD81_HUMAN CCDC81 Coiled-coil domain-containing protein 81 652 76.1 11 Cytoplasm 0 0 0 1 3 2007-05-29 Q6ZNA5 FRRS1_HUMAN FRRS1 Ferric reductase 1 592 66.1 1 1.-.-.- Membrane 7 0 0 1 3 2008-01-15 Q6ZNC4 ZN704_HUMAN ZNF704 Zinc finger protein 704 412 45.3 8 Nucleus 0 0 0 1 3 2007-05-29 Q6ZNG1 ZN600_HUMAN ZNF600 Zinc finger protein 600 722 83.1 19 Nucleus 0 0 0 1 3 2006-05-16 Q6ZNI0 GCNT7_HUMAN GCNT7 Probable beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7 430 49.3 20 2.4.1.- Golgi apparatus membrane 1 0 0 2 3 2007-08-21 Q6ZPB5 SDIM1_HUMAN SDIM1 Stress-responsive DNAJB4-interacting membrane protein 1 146 16.1 Membrane 2 0 0 1 3 2011-04-05 Q6ZR52 ZN493_HUMAN ZNF493 Zinc finger protein 493 646 75.3 19 Nucleus 0 0 0 1 3 2005-10-11 Q6ZSI9 CAN12_HUMAN CAPN12 Calpain-12 719 81 19 3.4.22.- 0 0 0 1 3 2004-10-11 Q6ZUK4 TMM26_HUMAN TMEM26 Transmembrane protein 26 368 41.7 10 Membrane 8 0 0 1 3 2006-07-11 Q6ZUT6 CCD9B_HUMAN CCDC9B Coiled-coil domain-containing protein 9B 534 57.3 15 0 0 0 1 3 2007-07-24 Q6ZV50 RFX8_HUMAN RFX8 DNA-binding protein RFX8 586 66.3 2 Nucleus 0 0 0 2 3 2008-03-18 Q7RTS6 OTOP2_HUMAN OTOP2 Proton channel OTOP2 562 62.2 17 Cell membrane 12 0 0 1 3 2008-01-15 Q7Z304 MAMC2_HUMAN MAMDC2 MAM domain-containing protein 2 686 77.6 9 Secreted 0 0 0 1 3 2004-04-13 Q7Z5L0 VMO1_HUMAN VMO1 Vitelline membrane outer layer protein 1 homolog 202 21.5 17 Secreted 0 0 0 1 3 2005-03-01 Q7Z5S9 TM144_HUMAN TMEM144 Transmembrane protein 144 345 37.7 4 Membrane 10 0 0 1 3 2007-05-29 Q7Z6W7 DNJB7_HUMAN DNAJB7 DnaJ homolog subfamily B member 7 309 35.4 22 0 0 0 2 3 2004-03-01 Q7Z713 ANR37_HUMAN ANKRD37 Ankyrin repeat domain-containing protein 37 158 16.9 4 Nucleus; Cytoplasm 0 0 0 1 3 2006-06-27 Q7Z7K2 ZN467_HUMAN ZNF467 Zinc finger protein 467 595 65.1 7 Nucleus 0 0 0 1 3 2006-07-25 Q86UF2 CTGE6_HUMAN CTAGE6 cTAGE family member 6 777 87.9 7 Membrane 1 0 0 1 3 2005-01-04 Q86XN6 ZN761_HUMAN ZNF761 Zinc finger protein 761 746 87.7 19 Nucleus 0 0 0 1 3 2007-10-02 Q86XZ4 SPAS2_HUMAN SPATS2 Spermatogenesis-associated serine-rich protein 2 545 59.5 12 Cytoplasm 0 0 0 1 3 2007-10-23 Q86YN1 DOPP1_HUMAN DOLPP1 Dolichyldiphosphatase 1 238 27 9 3.6.1.43 Endoplasmic reticulum membrane 4 0 0 1 3 2004-03-15 Q8IUB3 WF10B_HUMAN WFDC10B Protein WFDC10B 73 8.3 20 Secreted 0 0 0 1 3 2003-06-16 Q8IV03 LUR1L_HUMAN LURAP1L Leucine rich adaptor protein 1-like 228 24.4 9 0 0 0 1 3 2005-06-07 Q8IVN8 SBSPO_HUMAN SBSPON Somatomedin-B and thrombospondin type-1 domain-containing protein 264 29.6 8 Secreted 0 0 0 1 3 2008-04-29 Q8IVU1 IGDC3_HUMAN IGDCC3 Immunoglobulin superfamily DCC subclass member 3 814 86.7 15 Membrane 1 0 0 1 3 2004-12-21 Q8IVV8 NKAI4_HUMAN NKAIN4 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 4 208 23.2 20 Cell membrane 3 0 0 1 3 2004-04-26 Q8IVY1 CA210_HUMAN C1orf210 Type III endosome membrane protein TEMP 113 12 1 Membrane; Early endosome; Recycling endosome; Cell membrane 1 0 0 1 3 2007-01-09 Q8IW50 F219A_HUMAN FAM219A Protein FAM219A 185 20.4 9 0 0 0 1 3 2005-08-16 Q8IXF9 AQ12A_HUMAN AQP12A Putative aquaporin-12A 295 31.5 2 Membrane 6 0 0 2 3 2004-05-10 Q8IY85 EFC13_HUMAN EFCAB13 EF-hand calcium-binding domain-containing protein 13 973 110.1 17 0 0 0 1 3 2007-03-20 Q8IZ13 ZBED8_HUMAN ZBED8 Protein ZBED8 594 68.3 5 0 0 0 1 3 2008-09-02 Q8IZ16 SACDR_HUMAN SPACDR Sperm acrosome developmental regulator 206 23.9 7 Cytoplasmic vesicle 0 0 0 1 3 2008-03-18 Q8IZP2 ST134_HUMAN ST13P4 Putative protein FAM10A4 240 27.4 Cytoplasm 0 0 0 5 3 2005-10-25 Q8IZY5 BLID_HUMAN BLID BH3-like motif-containing cell death inducer 108 12 11 Cytoplasm; Mitochondrion 0 0 0 1 3 2007-09-11 Q8N0U6 CF218_HUMAN LINC00518 Putative uncharacterized protein encoded by LINC00518 118 13.4 0 0 0 5 3 2007-08-21 Q8N0Z2 ABRA_HUMAN ABRA Actin-binding Rho-activating protein 381 43.1 8 Cytoplasm 0 0 0 1 3 2006-07-25 Q8N0Z9 VSI10_HUMAN VSIG10 V-set and immunoglobulin domain-containing protein 10 540 59.2 12 Membrane 1 0 0 1 3 2008-07-22 Q8N148 OR6V1_HUMAN OR6V1 Olfactory receptor 6V1 313 34.9 7 Cell membrane 7 0 0 2 3 2003-10-10 Q8N184 ZN567_HUMAN ZNF567 Zinc finger protein 567 647 75.2 19 Nucleus 0 0 0 1 3 2005-12-06 Q8N3Z0 PRS35_HUMAN PRSS35 Inactive serine protease 35 413 47.1 6 Secreted 0 0 0 1 3 2007-09-11 Q8N456 LRC18_HUMAN LRRC18 Leucine-rich repeat-containing protein 18 261 29.7 10 Cytoplasm 0 0 0 1 3 2005-09-27 Q8N4H0 SPA6L_HUMAN SPATA6L Spermatogenesis associated 6-like protein 392 45.1 9 0 0 0 1 3 2005-07-05 Q8N587 ZN561_HUMAN ZNF561 Zinc finger protein 561 486 55.2 19 Nucleus 0 0 0 1 3 2005-11-22 Q8N688 DB123_HUMAN DEFB123 Beta-defensin 123 67 8.1 20 Secreted 0 0 0 2 3 2002-12-06 Q8N6M8 IQCF1_HUMAN IQCF1 IQ domain-containing protein F1 205 23.7 3 Cytoplasmic vesicle 0 0 0 1 3 2007-04-03 Q8N6Y2 LRC17_HUMAN LRRC17 Leucine-rich repeat-containing protein 17 441 51.8 7 Secreted 0 0 0 1 3 2004-08-31 Q8N7G0 PO5F2_HUMAN POU5F2 POU domain, class 5, transcription factor 2 328 36.1 5 Nucleus 0 0 0 1 3 2003-02-01 Q8N7Q3 ZN676_HUMAN ZNF676 Zinc finger protein 676 588 67.6 19 Nucleus 0 0 0 1 3 2006-05-02 Q8N801 STPG4_HUMAN STPG4 Protein STPG4 248 27.8 2 Cytoplasm; Nucleus 0 0 0 1 3 2007-11-13 Q8N808 S35G3_HUMAN SLC35G3 Solute carrier family 35 member G3 338 35.4 17 Golgi apparatus membrane 9 0 0 2 3 2006-12-12 Q8N8F7 LSME1_HUMAN LSMEM1 Leucine-rich single-pass membrane protein 1 131 14.5 7 Membrane 1 0 0 1 3 2007-11-13 Q8N8R5 CB069_HUMAN C2orf69 Mitochondrial protein C2orf69 385 43.4 2 Mitochondrion matrix 0 1 Combined oxidative phosphorylation deficiency 53 0 1 3 2008-04-08 Q8N9B8 RGF1A_HUMAN RASGEF1A Ras-GEF domain-containing family member 1A 481 54.6 10 0 0 0 1 3 2007-08-21 Q8N9C0 IGS22_HUMAN IGSF22 Immunoglobulin superfamily member 22 903 100.4 11 0 0 0 2 3 2007-05-01 Q8N9U0 TAC2N_HUMAN TC2N Tandem C2 domains nuclear protein 490 55.3 14 Nucleus 0 0 0 1 3 2003-07-25 Q8N9V2 TRIML_HUMAN TRIML1 Probable E3 ubiquitin-protein ligase TRIML1 468 53 4 2.3.2.27 0 0 0 1 3 2007-02-06 Q8N9Z9 LMTD1_HUMAN LMNTD1 Lamin tail domain-containing protein 1 388 43.4 12 0 0 0 1 3 2008-02-05 Q8NAA5 LR75A_HUMAN LRRC75A Leucine-rich repeat-containing protein 75A 344 37.8 17 0 0 0 1 3 2007-05-15 Q8NAB2 KBTB3_HUMAN KBTBD3 Kelch repeat and BTB domain-containing protein 3 612 69.8 11 0 0 0 1 3 2003-09-19 Q8NCI6 GLBL3_HUMAN GLB1L3 Beta-galactosidase-1-like protein 3 653 74.8 11 3.2.1.23 0 0 0 1 3 2007-04-03 Q8NCL9 APCDL_HUMAN APCDD1L Protein APCDD1-like 501 55.6 20 Membrane 1 0 0 1 3 2006-12-12 Q8ND61 CC020_HUMAN C3orf20 Uncharacterized protein C3orf20 904 101.3 3 Membrane 1 0 0 1 3 2006-03-21 Q8NEK5 ZN548_HUMAN ZNF548 Zinc finger protein 548 533 62.7 19 Nucleus 0 0 0 1 3 2006-06-27 Q8NFI4 F10A5_HUMAN ST13P5 Putative protein FAM10A5 369 41.4 Cytoplasm 0 0 0 5 3 2005-10-25 Q8NFU4 FDSCP_HUMAN FDCSP Follicular dendritic cell secreted peptide 85 9.7 4 Secreted 0 0 0 1 3 2002-11-28 Q8NG75 OR5T1_HUMAN OR5T1 Olfactory receptor 5T1 326 36.9 11 Cell membrane 7 0 0 2 3 2005-07-19 Q8NG76 O2T33_HUMAN OR2T33 Olfactory receptor 2T33 320 35.9 1 Cell membrane 7 0 0 2 3 2005-07-19 Q8NGF3 O51D1_HUMAN OR51D1 Olfactory receptor 51D1 324 35.8 11 Cell membrane 7 0 0 2 3 2005-07-19 Q8NGF8 OR4B1_HUMAN OR4B1 Olfactory receptor 4B1 309 34.5 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGG0 OR8J3_HUMAN OR8J3 Olfactory receptor 8J3 315 35.5 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGG2 OR5T2_HUMAN OR5T2 Olfactory receptor 5T2 359 40.7 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGG3 OR5T3_HUMAN OR5T3 Olfactory receptor 5T3 340 38.3 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGG6 OR8BC_HUMAN OR8B12 Olfactory receptor 8B12 310 34.4 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGI3 O56B1_HUMAN OR56B1 Olfactory receptor 56B1 324 36.1 11 Cell membrane 7 0 0 2 3 2005-07-19 Q8NGJ0 OR5A1_HUMAN OR5A1 Olfactory receptor 5A1 315 35.2 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGK3 O52K2_HUMAN OR52K2 Olfactory receptor 52K2 314 34.9 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGK5 O52M1_HUMAN OR52M1 Olfactory receptor 52M1 317 35 11 Cell membrane 7 0 0 3 3 2005-12-20 Q8NGK9 OR5DG_HUMAN OR5D16 Olfactory receptor 5D16 328 37.3 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGL1 OR5DI_HUMAN OR5D18 Olfactory receptor 5D18 313 35.3 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGM8 OR6M1_HUMAN OR6M1 Olfactory receptor 6M1 313 35.3 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGN6 O10G7_HUMAN OR10G7 Olfactory receptor 10G7 311 34.5 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGQ5 OR9Q1_HUMAN OR9Q1 Olfactory receptor 9Q1 310 34.8 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGR8 OR1L8_HUMAN OR1L8 Olfactory receptor 1L8 309 35.1 9 Cell membrane 7 0 0 2 3 2003-10-10 Q8NGS6 O13C3_HUMAN OR13C3 Olfactory receptor 13C3 347 38.7 9 Cell membrane 7 0 0 2 3 2003-09-26 Q8NGT5 OR9A2_HUMAN OR9A2 Olfactory receptor 9A2 310 35.3 7 Cell membrane 6 0 0 2 3 2003-10-10 Q8NGX8 OR6Y1_HUMAN OR6Y1 Olfactory receptor 6Y1 325 36.6 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGY6 OR6N2_HUMAN OR6N2 Olfactory receptor 6N2 317 35.7 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NGY7 O10J6_HUMAN OR10J6P Putative olfactory receptor 10J6 276 31 Cell membrane 7 0 0 5 3 2003-10-10 Q8NGZ9 O2T10_HUMAN OR2T10 Olfactory receptor 2T10 312 35.4 1 Cell membrane 7 0 0 2 3 2005-12-20 Q8NH00 OR2T4_HUMAN OR2T4 Olfactory receptor 2T4 348 39.4 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH05 OR4Q3_HUMAN OR4Q3 Olfactory receptor 4Q3 313 35.5 14 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH16 OR2L2_HUMAN OR2L2 Olfactory receptor 2L2 312 35.5 1 Cell membrane 7 0 0 2 3 2003-10-31 Q8NH57 O52P1_HUMAN OR52P1 Olfactory receptor 52P1 321 34.9 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH74 O10A6_HUMAN OR10A6 Olfactory receptor 10A6 314 35.3 11 Cell membrane 7 0 0 3 3 2003-10-10 Q8NH76 O56B4_HUMAN OR56B4 Olfactory receptor 56B4 319 35.5 11 Cell membrane 7 0 0 2 3 2003-10-10 Q8NH80 O10D3_HUMAN OR10D3 Olfactory receptor 10D3 312 34.8 11 Cell membrane 7 0 0 2 3 2008-09-02 Q8NH93 OR1L3_HUMAN OR1L3 Olfactory receptor 1L3 324 36.6 9 Cell membrane 7 0 0 1 3 2003-10-10 Q8NH95 O13C6_HUMAN OR13C6P Putative olfactory receptor 13C6 151 16.7 Cell membrane 3 0 0 5 3 2008-07-22 Q8NHA4 O2AE1_HUMAN OR2AE1 Olfactory receptor 2AE1 323 36.6 7 Cell membrane 7 0 0 2 3 2003-10-10 Q8NHB1 OR2V1_HUMAN OR2V1 Olfactory receptor 2V1 315 34.9 5 Cell membrane 7 0 0 3 3 2007-12-04 Q8NHC6 O14L1_HUMAN OR14L1 Olfactory receptor 14L1 325 36.7 1 Cell membrane 7 0 0 3 3 2003-10-10 Q8NHR9 PROF4_HUMAN PFN4 Profilin-4 129 14.3 2 Cytoplasm 0 0 0 1 3 2004-03-29 Q8NHW6 OTOSP_HUMAN OTOS Otospiralin 89 9.9 2 Secreted 0 0 0 1 3 2004-12-07 Q8TA94 ZN563_HUMAN ZNF563 Zinc finger protein 563 476 55.4 19 Nucleus 0 0 0 1 3 2005-12-06 Q8TAA1 RNS11_HUMAN RNASE11 Putative inactive ribonuclease 11 199 22.4 14 Secreted 0 0 0 1 3 2003-05-30 Q8TAI1 TYMOS_HUMAN TYMSOS TYMS opposite strand protein 123 13.4 0 0 0 5 3 2007-05-15 Q8TAV5 KC5S1_HUMAN KCNJ5-AS1 Uncharacterized protein KCNJ5-AS1 145 15.6 11 Secreted 0 0 0 1 3 2006-10-03 Q8TCN5 ZN507_HUMAN ZNF507 Zinc finger protein 507 953 105.8 19 Nucleus 0 0 0 1 3 2004-11-23 Q8TF44 C2C4C_HUMAN C2CD4C C2 calcium-dependent domain-containing protein 4C 421 44.6 19 0 0 0 1 3 2007-07-10 Q8WTR8 NET5_HUMAN NTN5 Netrin-5 489 53.2 19 Secreted 0 0 0 1 3 2008-02-26 Q8WTU2 SRB4D_HUMAN SSC4D Scavenger receptor cysteine-rich domain-containing group B protein 575 60.8 7 Secreted 0 0 0 1 3 2008-02-26 Q8WUJ1 NEUFC_HUMAN CYB5D2 Neuferricin 264 28.7 17 Secreted 0 0 0 1 3 2007-12-04 Q8WUR7 CO040_HUMAN C15orf40 UPF0235 protein C15orf40 153 16.4 15 0 0 0 1 3 2003-04-11 Q8WUY9 DEP1B_HUMAN DEPDC1B DEP domain-containing protein 1B 529 61.8 5 0 0 0 1 3 2007-04-17 Q8WVC6 DCAKD_HUMAN DCAKD Dephospho-CoA kinase domain-containing protein 231 26.6 17 0 0 0 1 3 2008-02-05 Q8WW36 ZCH13_HUMAN ZCCHC13 Zinc finger CCHC domain-containing protein 13 166 18 X 0 0 0 1 3 2005-05-10 Q8WW62 TMED6_HUMAN TMED6 Transmembrane emp24 domain-containing protein 6 240 27.6 16 Endoplasmic reticulum membrane 1 0 0 1 3 2005-03-29 Q8WWU7 ITLN2_HUMAN ITLN2 Intelectin-2 325 36.2 1 Secreted 0 0 0 1 3 2004-11-23 Q8WZA0 LZIC_HUMAN LZIC Protein LZIC 190 21.5 1 0 0 0 1 3 2006-12-12 Q96B33 CLD23_HUMAN CLDN23 Claudin-23 292 31.9 8 Cell junction; Cell membrane 4 0 0 1 3 2004-05-24 Q96BJ8 ELMO3_HUMAN ELMO3 Engulfment and cell motility protein 3 720 81.5 16 Cytoplasm 0 0 0 1 3 2003-05-16 Q96BQ1 FAM3D_HUMAN FAM3D Protein FAM3D 224 25 3 Secreted 0 0 0 1 3 2002-09-19 Q96CD0 FBXL8_HUMAN FBXL8 F-box/LRR-repeat protein 8 374 40.5 16 0 0 0 1 3 2003-11-07 Q96DD0 LRC39_HUMAN LRRC39 Leucine-rich repeat-containing protein 39 335 38.8 1 Cytoplasm 0 0 0 1 3 2006-04-18 Q96E16 SMI19_HUMAN SMIM19 Small integral membrane protein 19 107 12.4 8 Membrane 1 0 0 1 3 2006-12-12 Q96EI5 TCAL4_HUMAN TCEAL4 Transcription elongation factor A protein-like 4 215 24.6 X Nucleus 0 0 0 1 3 2006-05-30 Q96FV0 LRC46_HUMAN LRRC46 Leucine-rich repeat-containing protein 46 321 35.3 17 Cell projection 0 0 0 1 3 2006-02-21 Q96GT9 XAGE2_HUMAN XAGE2 X antigen family member 2 111 12.4 X 0 0 0 1 3 2002-07-11 Q96H12 MSD3_HUMAN MSANTD3 Myb/SANT-like DNA-binding domain-containing protein 3 275 32.4 9 0 0 0 1 3 2007-06-26 Q96JF6 ZN594_HUMAN ZNF594 Zinc finger protein 594 807 93.9 17 Nucleus 0 0 0 1 3 2007-10-02 Q96K75 ZN514_HUMAN ZNF514 Zinc finger protein 514 400 45.9 2 Nucleus 0 0 0 1 3 2004-02-16 Q96LR4 TAFA4_HUMAN TAFA4 Chemokine-like protein TAFA-4 140 15.7 3 Secreted 0 0 0 1 3 2005-11-08 Q96LT6 CA074_HUMAN C1orf74 UPF0739 protein C1orf74 269 29.6 1 0 0 0 1 3 2007-01-09 Q96LW1 Z354B_HUMAN ZNF354B Zinc finger protein 354B 612 70.5 5 Nucleus 0 0 0 1 3 2007-03-20 Q96M93 ADAD1_HUMAN ADAD1 Adenosine deaminase domain-containing protein 1 576 64.4 4 Nucleus 0 0 0 1 3 2007-11-13 Q96NA8 TSNA1_HUMAN TSNARE1 t-SNARE domain-containing protein 1 513 55.9 8 Membrane 1 0 0 1 3 2005-09-13 Q96P64 AGAP4_HUMAN AGAP4 Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 4 663 73.1 10 0 0 0 2 3 2007-04-17 Q96PT3 DUX5_HUMAN DUX5 Double homeobox protein 5 197 22.2 Nucleus 0 0 0 2 3 2006-10-17 Q96QE4 LR37B_HUMAN LRRC37B Leucine-rich repeat-containing protein 37B 947 105.6 17 Membrane 1 0 0 1 3 2006-04-18 Q96R67 OR4CC_HUMAN OR4C12 Olfactory receptor 4C12 309 34.5 11 Cell membrane 7 0 0 2 3 2003-10-10 Q96R72 OR4K3_HUMAN OR4K3 Olfactory receptor 4K3 315 35.4 Cell membrane 7 0 0 3 3 2003-10-10 Q96RD1 OR6C1_HUMAN OR6C1 Olfactory receptor 6C1 312 35.7 12 Cell membrane 7 0 0 1 3 2003-10-10 Q9BPX7 CG025_HUMAN C7orf25 UPF0415 protein C7orf25 421 46.5 7 0 0 0 1 3 2007-03-06 Q9BQP9 BPIA3_HUMAN BPIFA3 BPI fold-containing family A member 3 254 28.4 20 Secreted 0 0 0 1 3 2002-10-10 Q9BQY6 WFDC6_HUMAN WFDC6 WAP four-disulfide core domain protein 6 131 14.6 20 Secreted 0 0 0 1 3 2003-06-16 Q9BR10 SPT25_HUMAN SPATA25 Spermatogenesis-associated protein 25 227 23.8 20 Membrane 1 0 0 1 3 2003-01-17 Q9BR77 CCD77_HUMAN CCDC77 Coiled-coil domain-containing protein 77 488 57.5 12 0 0 0 1 3 2007-01-09 Q9BSJ1 TRI51_HUMAN TRIM51 Tripartite motif-containing protein 51 452 52.3 11 0 0 0 1 3 2008-04-08 Q9BTY7 HGH1_HUMAN HGH1 Co-chaperone protein HGH1 homolog 390 42.1 8 Cytoplasm 0 0 0 1 3 2007-01-23 Q9BWD3 RTL8A_HUMAN RTL8A Retrotransposon Gag-like protein 8A 113 13.2 X 0 0 0 1 3 2007-12-04 Q9BWV2 SPAT9_HUMAN SPATA9 Spermatogenesis-associated protein 9 254 28.7 5 Membrane 1 0 0 1 3 2007-02-20 Q9BY31 ZN717_HUMAN ZNF717 Zinc finger protein 717 914 106.5 3 Nucleus 0 0 0 1 3 2008-05-20 Q9BYU5 KRA21_HUMAN KRTAP2-1 Keratin-associated protein 2-1 128 13.5 17 0 0 0 2 3 2008-04-29 Q9BZK3 NACP4_HUMAN NACA4P Putative nascent polypeptide-associated complex subunit alpha-like protein 213 23.3 0 0 0 5 3 2007-03-20 Q9C0B7 TNG6_HUMAN TANGO6 Transport and Golgi organization protein 6 homolog 1094 120.7 16 Membrane 1 0 0 1 3 2007-10-02 Q9C0B9 ZCHC2_HUMAN ZCCHC2 Zinc finger CCHC domain-containing protein 2 1178 125.9 18 0 0 0 1 3 2003-08-22 Q9C0D4 Z518B_HUMAN ZNF518B Zinc finger protein 518B 1074 119.5 4 Nucleus 0 0 0 1 3 2008-02-05 Q9C0I9 LRC27_HUMAN LRRC27 Leucine-rich repeat-containing protein 27 530 60.1 10 0 0 0 1 3 2006-01-24 Q9H098 F107B_HUMAN FAM107B Protein FAM107B 131 15.6 10 0 0 0 1 3 2006-04-04 Q9H1M0 N62CL_HUMAN NUP62CL Nucleoporin-62 C-terminal-like protein 184 20.8 X 0 0 0 1 3 2006-10-31 Q9H1M3 DB129_HUMAN DEFB129 Beta-defensin 129 183 20.3 20 Secreted 0 0 0 1 3 2002-12-06 Q9H1Z4 WDR13_HUMAN WDR13 WD repeat-containing protein 13 485 53.7 X Nucleus 0 0 0 1 3 2002-03-27 Q9H2C5 O52A5_HUMAN OR52A5 Olfactory receptor 52A5 316 36 11 Cell membrane 7 0 0 3 3 2005-12-20 Q9H5J0 ZBTB3_HUMAN ZBTB3 Zinc finger and BTB domain-containing protein 3 574 61.8 11 Nucleus 0 0 0 1 3 2003-08-04 Q9H7J1 PPR3E_HUMAN PPP1R3E Protein phosphatase 1 regulatory subunit 3E 279 30.6 14 0 0 0 1 3 2008-06-10 Q9H8G2 CAAP1_HUMAN CAAP1 Caspase activity and apoptosis inhibitor 1 361 38.4 9 0 0 0 1 3 2005-07-05 Q9H963 ZN702_HUMAN ZNF702P Putative zinc finger protein 702 129 15 Nucleus 0 0 0 5 3 2006-05-02 Q9HB31 SEBOX_HUMAN SEBOX Homeobox protein SEBOX 190 20.4 17 Nucleus 0 0 0 3 3 2007-11-13 Q9HBL6 LRTM1_HUMAN LRTM1 Leucine-rich repeat and transmembrane domain-containing protein 1 345 38.2 3 Membrane 1 0 0 1 3 2007-03-06 Q9HBT7 ZN287_HUMAN ZNF287 Zinc finger protein 287 761 88.3 17 Nucleus 0 0 0 1 3 2002-01-23 Q9HCJ5 ZSWM6_HUMAN ZSWIM6 Zinc finger SWIM domain-containing protein 6 1215 133.5 5 0 2 Acromelic frontonasal dysostosis; Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 1 3 2004-01-16 Q9NPD7 NRN1_HUMAN NRN1 Neuritin 142 15.3 6 Cell membrane; Synapse 0 0 0 1 3 2006-11-28 Q9NRR1 CYTL1_HUMAN CYTL1 Cytokine-like protein 1 136 15.6 4 Secreted 0 0 0 1 3 2002-06-06 Q9NW07 ZN358_HUMAN ZNF358 Zinc finger protein 358 568 59.3 19 Nucleus 0 0 0 1 3 2002-09-19 Q9NX05 F120C_HUMAN FAM120C Constitutive coactivator of PPAR-gamma-like protein 2 1096 120.6 X 0 0 0 1 3 2004-06-07 Q9NX36 DJC28_HUMAN DNAJC28 DnaJ homolog subfamily C member 28 388 45.8 21 0 0 0 1 3 2002-09-19 Q9NXP7 GIN1_HUMAN GIN1 Gypsy retrotransposon integrase-like protein 1 522 59.8 5 0 0 0 1 3 2008-05-20 Q9NYL9 TMOD3_HUMAN TMOD3 Tropomodulin-3 352 39.6 15 Cytoplasm 0 0 0 1 3 2002-09-19 Q9P1P5 TAAR2_HUMAN TAAR2 Trace amine-associated receptor 2 351 40.1 6 Cell membrane 7 0 0 2 3 2003-11-07 Q9P1Z9 CC180_HUMAN CCDC180 Coiled-coil domain-containing protein 180 1701 197.3 0 0 0 1 3 2008-01-15 Q9P281 BAHC1_HUMAN BAHCC1 BAH and coiled-coil domain-containing protein 1 2639 280 17 0 0 0 1 3 2007-12-04 Q9UD57 NKX12_HUMAN NKX1-2 NK1 transcription factor-related protein 2 310 32.4 10 Nucleus 0 0 0 1 3 2008-03-18 Q9UKQ9 KLK9_HUMAN KLK9 Kallikrein-9 250 27.5 19 3.4.21.- Secreted 0 0 0 1 3 2000-12-01 Q9ULD9 ZN608_HUMAN ZNF608 Zinc finger protein 608 1512 162.2 5 0 0 0 1 3 2007-03-20 Q9Y2H8 ZN510_HUMAN ZNF510 Zinc finger protein 510 683 79.1 9 Nucleus 0 0 0 1 3 2002-04-16 Q9Y2S6 TMA7_HUMAN TMA7 Translation machinery-associated protein 7 64 7.1 3 0 0 0 1 3 2006-05-16 Q9Y3T6 R3HC1_HUMAN R3HCC1 R3H and coiled-coil domain-containing protein 1 440 49.1 8 0 0 0 1 3 2007-10-23 Q9Y519 T184B_HUMAN TMEM184B Transmembrane protein 184B 407 45.6 22 Membrane 7 0 0 1 3 2002-06-20 Q9Y614 ACL7B_HUMAN ACTL7B Actin-like protein 7B 415 45.2 9 Cytoplasm 0 0 0 1 3 2003-01-27 A0A087WXS9 TBC3I_HUMAN TBC1D3I TBC1 domain family member 3I 549 62.2 17 Cell membrane 0 0 0 3 2 2015-01-07 A0A0A0MT76 LJ01_HUMAN IGLJ1 Immunoglobulin lambda joining 1 42 4.8 22 Secreted; Cell membrane 0 0 0 4 2 2017-03-15 A0A0C4DH62 HJ01_HUMAN IGHJ1 Immunoglobulin heavy joining 1 17 1.9 14 Secreted; Cell membrane 0 0 0 4 2 2017-03-15 A0A0J9YY54 TX13D_HUMAN TEX13D Testis-expressed protein 13D 714 78.9 X 0 0 0 1 2 2018-09-12 A0A0U1RRL7 MMPOS_HUMAN MMP24OS Protein MMP24OS 71 7.7 20 0 0 0 1 2 2018-06-20 A0A1B0GTH6 CS2IP_HUMAN CSNK2A2IP Casein kinase II subunit alpha'-interacting protein 734 81.8 3 Nucleus 0 0 0 1 2 2018-01-31 A0A1B0GTI8 TM272_HUMAN TMEM272 Transmembrane protein 272 187 21.3 13 Membrane 4 0 0 2 2 2018-03-28 A0A1B0GTR0 EDD13_HUMAN EDDM13 Epididymal protein 13 161 18.5 19 Secreted 0 0 0 3 2 2017-06-07 A0A1B0GTY4 TEX50_HUMAN TEX50 Testis-expressed protein 50 177 20.8 1 Membrane 1 0 0 1 2 2017-08-30 A0A1B0GUJ8 PNM8C_HUMAN PNMA8C Paraneoplastic antigen-like protein 8C 204 22.9 19 0 0 0 1 2 2017-09-27 A0A1B0GUW6 SPEM3_HUMAN SPEM3 Uncharacterized protein SPEM3 1196 128.6 17 Membrane 1 0 0 1 2 2018-02-28 A0A1B0GVN3 CB092_HUMAN C2orf92 Uncharacterized protein C2orf92 265 30.2 2 Membrane 1 0 0 3 2 2018-01-31 A0A1B0GVT2 SIM36_HUMAN SMIM36 Small integral membrane protein 36 93 10.1 17 Membrane 1 0 0 1 2 2018-02-28 A0A1B0GWH4 HSFX3_HUMAN HSFX3 Heat shock transcription factor, X-linked member 3 333 37.1 X Nucleus 0 0 0 3 2 2017-06-07 A0A1W2PP81 TFKL5_HUMAN TAF11L5 TATA-box-binding protein-associated factor 11-like protein 5 198 21.6 5 0 0 0 2 2 2022-08-03 A0A1W2PR64 TFKL9_HUMAN TAF11L9 TATA-box-binding protein-associated factor 11-like protein 9 198 21.7 5 0 0 0 2 2 2022-08-03 A0A1W2PS18 PMIS2_HUMAN PMIS2 Transmembrane protein PMIS2 150 15.8 19 Membrane 2 0 0 3 2 2018-06-20 A0A286YEY9 SCGR1_HUMAN SCYGR1 Small cysteine and glycine repeat-containing protein 1 88 8.6 2 0 0 0 1 2 2018-10-10 A0A2R8Y4L2 RA1L3_HUMAN HNRNPA1L3 Heterogeneous nuclear ribonucleoprotein A1-like 3 320 34.3 16 0 0 0 1 2 2022-02-23 A0A3G1DJK2 SHLP4_HUMAN MT-RNR2 Small humanin-like peptide 4 26 3.1 MT 0 0 0 4 2 2026-01-28 A0A494BZU4 T217B_HUMAN TMEM217B Transmembrane protein 217B 170 20.1 6 Membrane 3 0 0 3 2 2022-02-23 A0A494C071 PWWP4_HUMAN PWWP4 Putative PWWP domain-containing DNA repair factor 4 2061 217.8 X 0 0 0 5 2 2023-02-22 A0A494C1I1 SIM48_HUMAN SMIM48 Small integral membrane protein 48 119 12.8 17 Endoplasmic reticulum membrane 1 0 0 1 2 2026-01-28 A0A494C1R9 TSPY9_HUMAN TSPY9 Testis-specific Y-encoded protein 9 314 35.7 Y Cytoplasm; Nucleus 0 0 0 3 2 2022-02-23 A1L170 CA226_HUMAN C1orf226 Uncharacterized protein C1orf226 272 29.1 1 0 0 0 1 2 2008-05-20 A2RU67 F234B_HUMAN FAM234B Protein FAM234B 622 67 12 Membrane; Golgi outpost; Cytoplasm 1 0 0 1 2 2007-05-29 A5YM69 ARG35_HUMAN ARHGEF35 Rho guanine nucleotide exchange factor 35 484 53.3 7 0 0 0 1 2 2008-09-02 A6NC62 RAKDN_HUMAN RBAKDN RBAK downstream neighbor protein 81 8.1 7 Secreted 0 0 0 1 2 2008-02-26 A6NCF5 KLH33_HUMAN KLHL33 Kelch-like protein 33 533 57.8 14 0 0 0 1 2 2008-03-18 A6NCF6 MA13P_HUMAN MAGEA13P Putative MAGE domain-containing protein MAGEA13P 341 37.9 0 0 0 5 2 2008-04-08 A6NCI5 SIM16_HUMAN LINC00862 Putative transmembrane protein encoded by LINC00862 91 10.4 Membrane 1 0 0 5 2 2008-01-15 A6NCL2 LRCL1_HUMAN LRCOL1 Leucine-rich colipase-like protein 1 159 17.8 12 0 0 0 1 2 2008-09-02 A6NDX4 YO011_HUMAN Putative transmembrane protein ENSP00000320207 124 13.7 Membrane 1 0 0 5 2 2008-03-18 A6NE82 MB3L3_HUMAN MBD3L3 Methyl-CpG-binding domain protein 3-like 3 208 23.1 19 0 0 0 1 2 2008-09-02 A6NEV1 PR23A_HUMAN PRR23A Proline-rich protein 23A 266 28.2 3 0 0 0 3 2 2008-04-29 A6NFE2 SMCO2_HUMAN SMCO2 Single-pass membrane and coiled-coil domain-containing protein 2 343 39.5 12 Membrane 1 0 0 2 2 2008-06-10 A6NFN9 ANKUB_HUMAN ANKUB1 Protein ANKUB1 502 56.6 3 0 0 0 2 2 2008-07-22 A6NGA9 TM202_HUMAN TMEM202 Transmembrane protein 202 273 31.4 15 Membrane 4 0 0 4 2 2008-02-05 A6NGE4 DC8L1_HUMAN DCAF8L1 DDB1- and CUL4-associated factor 8-like protein 1 600 67.4 X 0 0 0 1 2 2008-01-15 A6NGN4 PRA25_HUMAN PRAMEF25 PRAME family member 25 478 55.4 1 0 0 0 3 2 2008-09-02 A6NHZ5 LR14B_HUMAN LRRC14B Leucine-rich repeat-containing protein 14B 514 56.8 5 0 0 0 1 2 2008-07-22 A6NI47 POTEM_HUMAN POTEM Putative POTE ankyrin domain family member M 508 57.1 14 0 0 0 3 2 2008-04-29 A6NIK2 LR10B_HUMAN LRRC10B Leucine-rich repeat-containing protein 10B 292 32.7 11 0 0 0 1 2 2008-09-02 A6NJ69 IGIP_HUMAN IGIP IgA-inducing protein homolog 53 5.9 5 Secreted 0 0 0 3 2 2008-04-29 A6NJ88 SGE2P_HUMAN SAGE2P Putative SAGE1-like protein 616 69 0 0 0 5 2 2008-06-10 A6NJU9 NPB13_HUMAN NPIPB13 Nuclear pore complex-interacting protein family member B13 1138 126 16 Membrane 1 0 0 3 2 2008-07-22 A6NJY1 SL9P1_HUMAN SLC9B1P1 Putative SLC9B1-like protein SLC9B1P1 282 30.8 Membrane 7 0 0 5 2 2008-06-10 A6NKC9 SH2D7_HUMAN SH2D7 SH2 domain-containing protein 7 451 49.8 15 0 0 0 1 2 2008-06-10 A6NKN8 PC4L1_HUMAN PCP4L1 Purkinje cell protein 4-like protein 1 68 7.5 1 0 0 0 1 2 2008-04-29 A6NM45 CLD24_HUMAN CLDN24 Claudin-24 220 24.4 4 Cell junction; Cell membrane 4 0 0 3 2 2008-02-26 A6NN73 GOG8C_HUMAN GOLGA8CP Golgin subfamily A member 8C 597 67.1 0 0 0 3 2 2008-04-29 A6NNL5 CO061_HUMAN C15orf61 Uncharacterized protein C15orf61 157 18.1 15 Secreted 0 0 0 1 2 2008-04-29 A6NNV3 SPD16_HUMAN SPDYE16 Speedy protein E16 352 41.9 7 0 0 0 3 2 2008-06-10 A6PVY3 F177B_HUMAN FAM177B Protein FAM177B 158 18.1 1 0 0 0 1 2 2008-03-18 A7E2S9 A30BL_HUMAN ANKRD30BL Putative ankyrin repeat domain-containing protein 30B-like 258 28.5 2 0 0 0 2 2 2008-06-10 A8MRT5 NPIB5_HUMAN NPIPB5 Nuclear pore complex-interacting protein family member B5 1133 126.5 16 Membrane 1 0 0 2 2 2008-09-02 A8MT19 RHN2P_HUMAN RHPN2P1 Putative rhophilin-2-like protein RHPN2P1 583 65.9 0 0 0 5 2 2008-06-10 A8MT33 SYC1L_HUMAN SYCE1L Synaptonemal complex central element protein 1-like 242 27.4 16 0 0 0 1 2 2008-06-10 A8MUU1 FB5L3_HUMAN FABP5P3 Putative fatty acid-binding protein 5-like protein 3 101 11.3 0 0 0 5 2 2008-09-02 A8MWA6 F90AM_HUMAN FAM90A22 Protein FAM90A22 464 49.9 8 0 0 0 3 2 2008-09-02 A8MXJ8 F90A5_HUMAN FAM90A5 Protein FAM90A5 464 49.8 8 0 0 0 1 2 2008-06-10 A8MXQ7 IQAK1_HUMAN IQANK1 IQ motif and ankyrin repeat domain-containing protein 1 560 63.6 8 0 0 0 4 2 2008-07-22 A8MXT2 MAGBH_HUMAN MAGEB17 Melanoma-associated antigen B17 336 37.6 X 0 0 0 1 2 2008-04-29 A8MZ36 EVPLL_HUMAN EVPLL Envoplakin-like protein 301 34 17 0 0 0 1 2 2010-07-13 B1ANY3 F220P_HUMAN FAM220BP Putative protein FAM220BP 271 29.4 0 0 0 5 2 2008-07-22 B2RBV5 MR1L2_HUMAN MRFAP1L2 MORF4 family associated protein 1 like 2 119 13.4 4 0 0 0 1 2 2015-10-14 B2RV13 CF97D_HUMAN CFAP97D1 Sperm axonemal maintenance protein CFAP97D1 164 19.5 17 0 0 0 1 2 2010-03-23 B2RXF0 T229A_HUMAN TMEM229A Transmembrane protein 229A 380 42.4 7 Membrane 6 0 0 1 2 2010-03-02 B4DX44 ZN736_HUMAN ZNF736 Zinc finger protein 736 427 49.9 7 Nucleus 0 0 0 1 2 2010-07-13 B6SEH9 ERVV2_HUMAN ERVV-2 Endogenous retrovirus group V member 2 Env polyprotein 535 59.3 19 Membrane 2 0 0 1 2 2011-06-28 C9JG80 NPIB4_HUMAN NPIPB4 Nuclear pore complex-interacting protein family member B4 1138 126.7 16 Membrane 1 0 0 3 2 2013-10-16 E5RJ46 CH087_HUMAN LINC02906 Putative uncharacterized protein LINC02906 101 11.4 0 0 0 5 2 2012-04-18 E9PJI5 NPIA7_HUMAN NPIPA7 Nuclear pore complex-interacting protein family member A7 369 42.2 16 0 0 0 1 2 2013-10-16 F5H284 PAL4D_HUMAN PPIAL4D Peptidyl-prolyl cis-trans isomerase A-like 4D 164 18.2 1 5.2.1.8 Cytoplasm 0 0 0 3 2 2013-02-06 F5H4A9 CC080_HUMAN C3orf80 Uncharacterized membrane protein C3orf80 247 25.7 3 Membrane 1 0 0 1 2 2011-10-19 F5H4B4 F227A_HUMAN FAM227A Protein FAM227A 570 66.2 22 0 0 0 1 2 2012-10-03 F8W0I5 NPB12_HUMAN NPIPB12 Nuclear pore complex-interacting protein family member B12 928 104 16 Membrane 1 0 0 3 2 2020-08-12 H3BTG2 TEX46_HUMAN TEX46 Testis-expressed protein 46 121 14.1 1 Membrane 1 0 0 1 2 2013-09-18 H7BZ55 CRCC2_HUMAN CROCC2 Ciliary rootlet coiled-coil protein 2 1653 185.6 2 0 0 0 1 2 2013-06-26 I3L3L1 AL17B_HUMAN ARL17B Putative ADP-ribosylation factor-like protein 17B 181 19.8 17 0 0 0 3 2 2026-01-28 O60813 PRA11_HUMAN PRAMEF11 PRAME family member 11 478 55.3 1 0 0 0 2 2 2000-05-30 O75264 SIM24_HUMAN SMIM24 Small integral membrane protein 24 130 15 19 Membrane 1 0 0 1 2 2008-02-26 O76042 ERIT1_HUMAN ERC2-IT1 Putative uncharacterized protein encoded by ERC2-IT1 136 15 0 0 0 5 2 2001-04-27 P0C2Y1 NBPF7_HUMAN NBPF7P Putative NBPF family member NBPF7 421 48.1 Cytoplasm 0 0 0 5 2 2007-05-29 P0C6C1 AN34C_HUMAN ANKRD34C Ankyrin repeat domain-containing protein 34C 535 58.3 15 0 0 0 1 2 2008-02-26 P0C7M8 CLC2L_HUMAN CLEC2L C-type lectin domain family 2 member L 214 23.9 7 Membrane 1 0 0 1 2 2008-06-10 P0C7N8 OR9G9_HUMAN OR9G9 Olfactory receptor 9G9 305 34 Cell membrane 7 0 0 3 2 2008-06-10 P0C7T7 FMAS1_HUMAN FRMD6-AS1 Putative uncharacterized protein FRMD6-AS1 363 38.8 0 0 0 5 2 2008-07-22 P0C7V8 DC8L2_HUMAN DCAF8L2 DDB1- and CUL4-associated factor 8-like protein 2 631 71.2 X 0 0 0 1 2 2008-07-22 P0C7V9 ME15P_HUMAN METTL15P1 Putative methyltransferase-like protein 15P1 234 26.7 2.1.1.- 0 0 0 5 2 2008-07-22 P0C7W8 F90AD_HUMAN FAM90A13 Protein FAM90A13 464 49.9 8 0 0 0 1 2 2008-07-22 P0C864 DANCR_HUMAN DANCR Putative uncharacterized protein DANCR 163 16.8 0 0 0 5 2 2008-09-02 P0CE71 OCM2_HUMAN OCM2 Oncomodulin-2 109 12.1 7 0 0 0 3 2 2010-03-23 P0CG00 ZSA5D_HUMAN ZSCAN5DP Putative zinc finger and SCAN domain-containing protein 5D 497 56.2 Nucleus 0 0 0 5 2 2010-05-18 P0CG24 ZN883_HUMAN ZNF883 Zinc finger protein 883 379 44 9 Nucleus 0 0 0 1 2 2010-06-15 P0CJ71 HMN4_HUMAN MTRNR2L4 Humanin-like 4 28 3.2 16 Secreted; Cytoplasm 0 0 0 2 2 2011-02-08 P0CJ74 HMN7_HUMAN MTRNR2L7 Humanin-like 7 24 2.6 10 Secreted; Cytoplasm 0 0 0 2 2 2011-02-08 P0CJ75 HMN8_HUMAN MTRNR2L8 Humanin-like 8 24 2.7 11 Secreted; Cytoplasm 0 0 0 2 2 2011-02-08 P0CJ86 DU4L3_HUMAN DUX4L3 Double homeobox protein 4-like protein 3 424 44.9 Nucleus 0 0 0 3 2 2011-03-08 P0CK96 S352B_HUMAN SLC35E2B Solute carrier family 35 member E2B 405 43.8 1 Membrane 10 0 0 1 2 2011-03-08 P0CL81 GG12G_HUMAN GAGE12G G antigen 12G 117 13 X 0 0 0 3 2 2011-05-03 P0CW24 PNM6A_HUMAN PNMA6A Paraneoplastic antigen-like protein 6A 399 43.9 X 0 0 0 1 2 2011-07-27 P0DKX0 ZN728_HUMAN ZNF728 Zinc finger protein 728 622 71.8 19 0 0 0 4 2 2013-02-06 P0DL12 SIM17_HUMAN SMIM17 Small integral membrane protein 17 118 13.3 19 Membrane 1 0 0 4 2 2013-04-03 P0DMR2 SG1C2_HUMAN SCGB1C2 Secretoglobin family 1C member 2 95 10.5 17 Secreted 0 0 0 1 2 2014-11-26 P0DMT0 MLN_HUMAN MRLN Myoregulin 46 5.2 10 Sarcoplasmic reticulum membrane 1 0 0 1 2 2015-04-01 P0DO97 CC192_HUMAN CCDC192 Coiled-coil domain-containing protein 192 292 32.5 5 0 0 0 1 2 2016-06-08 P0DPF6 CB27B_HUMAN CDRT15P3 Putative uncharacterized protein CDRT15P3 209 22.1 0 0 0 5 2 2018-04-25 P0DTE0 T2R36_HUMAN TAS2R36 Putative taste receptor type 2 member 36 309 35.4 Membrane 7 0 0 5 2 2020-08-12 P0DV74 F90AH_HUMAN FAM90A17 Protein FAM90A17 464 49.8 8 0 0 0 3 2 2022-05-25 P0DW13 TFKL8_HUMAN TAF11L8 TATA-box-binding protein-associated factor 11-like protein 8 198 21.6 5 0 0 0 2 2 2022-08-03 P0DW14 TFKLJ_HUMAN TAF11L10 TATA-box-binding protein-associated factor 11-like protein 10 198 21.6 5 0 0 0 2 2 2022-08-03 P0DX04 TB15C_HUMAN TMSB15C Thymosin beta-15C 45 5.2 X Cytoplasm 0 0 0 3 2 2023-02-22 P61576 REC04_HUMAN HERV-K104 Endogenous retrovirus group K member 104 Rec protein 105 11.7 Cytoplasm; Nucleus 0 0 0 1 2 2004-05-24 Q05C16 LRC63_HUMAN LRRC63 Leucine-rich repeat-containing protein 63 587 67.2 13 0 0 0 1 2 2008-02-26 Q08E93 F27E3_HUMAN FAM27E3 Protein FAM27E3 113 13.5 0 0 0 1 2 2006-12-12 Q0D2K2 KLH30_HUMAN KLHL30 Kelch-like protein 30 578 64 2 0 0 0 1 2 2007-02-06 Q0P5P2 CQ067_HUMAN C17orf67 Uncharacterized protein C17orf67 90 10.7 17 Secreted 0 0 0 1 2 2007-05-15 Q0VDI3 TM267_HUMAN TMEM267 Transmembrane protein 267 215 24.2 5 Membrane 3 0 0 1 2 2007-04-03 Q156A1 ATX8_HUMAN ATXN8 Ataxin-8 80 10.3 Nucleus 0 1 Spinocerebellar ataxia 8 0 1 2 2007-01-09 Q17RQ9 NKPD1_HUMAN NKPD1 NTPase KAP family P-loop domain-containing protein 1 610 67.8 19 Membrane 3 0 0 1 2 2007-07-10 Q1A5X6 IQCJ_HUMAN IQCJ IQ domain-containing protein J 159 18.2 3 0 0 0 2 2 2008-01-15 Q1W209 ESRG_HUMAN ESRG Embryonic stem cell-related gene protein 222 24.2 Nucleus 0 0 0 1 2 2008-03-18 Q2M238 RN3P1_HUMAN RRN3P1 Putative RRN3-like protein RRN3P1 152 17.3 0 0 0 5 2 2008-02-26 Q2M2E5 CE064_HUMAN LINC03122 Uncharacterized protein encoded by LINC03122 130 14.8 Secreted 0 0 0 5 2 2008-06-10 Q3KRA6 CB076_HUMAN C2orf76 UPF0538 protein C2orf76 126 14.6 2 0 0 0 1 2 2008-03-18 Q3Y452 TDRG1_HUMAN TDRG1 Testis development-related protein 1 100 10.5 Cytoplasm 0 0 0 1 2 2012-10-03 Q3ZCU0 GVQW3_HUMAN GVQW3 Protein GVQW3 254 29.4 11 0 0 0 2 2 2008-02-26 Q3ZLR7 SP201_HUMAN SUPT20HL1 Transcription factor SPT20 homolog-like 1 823 89.4 0 0 0 1 2 2008-07-22 Q495Y7 SPDE7_HUMAN SPDYE7P Putative speedy protein E7 208 25.3 0 0 0 5 2 2008-09-02 Q4UJ75 A20A4_HUMAN ANKRD20A4P Putative ankyrin repeat domain-containing protein 20A4 823 94.1 9 0 0 0 5 2 2006-06-27 Q4V326 GAG2E_HUMAN GAGE2E G antigen 2E 110 12.2 X 0 0 0 3 2 2010-07-13 Q4VC31 MIX23_HUMAN MIX23 Protein MIX23 144 16.6 3 0 0 0 1 2 2006-06-13 Q4W4Y0 DRIP1_HUMAN DORIP1 Dopamine receptor-interacting protein 1 310 36.3 14 0 0 0 2 2 2007-02-06 Q502X0 MORN2_HUMAN MORN2 MORN repeat-containing protein 2 79 8.9 2 Cytoplasmic vesicle; Nucleus 0 0 0 1 2 2006-07-25 Q59GN2 R39L5_HUMAN RPL39P5 Putative ribosomal protein eL39-like 5 51 6.3 0 0 0 5 2 2008-09-02 Q5BKY1 LRC10_HUMAN LRRC10 Leucine-rich repeat-containing protein 10 277 31.6 12 Nucleus 0 0 0 1 2 2005-09-27 Q5GAN4 RNS12_HUMAN RNASE12 Probable inactive ribonuclease-like protein 12 147 17.2 14 Secreted 0 0 0 1 2 2007-10-23 Q5H9E4 S2553_HUMAN SLC25A53 Solute carrier family 25 member 53 307 34.5 X Mitochondrion inner membrane 6 0 0 1 2 2007-01-09 Q5JRK9 GGEE3_HUMAN PAGE2B Putative G antigen family E member 3 111 12 X 0 0 0 1 2 2006-07-25 Q5JTZ5 CI152_HUMAN C9orf152 Uncharacterized protein C9orf152 239 26.3 9 0 0 0 1 2 2006-04-04 Q5JXM2 MET24_HUMAN METTL24 Probable methyltransferase-like protein 24 366 41.3 6 2.1.1.- Secreted 0 0 0 1 2 2008-07-22 Q5JXX7 TMM31_HUMAN TMEM31 Transmembrane protein 31 168 19.8 X Membrane 2 0 0 1 2 2007-04-17 Q5MNV8 FBX47_HUMAN FBXO47 F-box only protein 47 452 52 17 0 0 0 2 2 2005-02-15 Q5NE16 CATL3_HUMAN CTSL3P Putative inactive cathepsin L-like protein CTSL3P 218 25.1 0 0 0 5 2 2007-05-15 Q5SQH8 CF136_HUMAN C6orf136 Uncharacterized protein C6orf136 315 35.8 6 0 0 0 1 2 2005-08-02 Q5SVJ3 SMIP3_HUMAN SPMIP3 Protein SPMIP3 147 17.6 1 0 0 0 1 2 2007-02-06 Q5SWL7 PRA14_HUMAN PRAMEF14 PRAME family member 14 474 55.1 1 0 0 0 3 2 2007-06-12 Q5T036 F120S_HUMAN FAM120AOS Uncharacterized protein FAM120AOS 256 27.9 9 0 0 0 1 2 2008-05-20 Q5T6X4 F162B_HUMAN FAM162B Protein FAM162B 162 17.7 6 Membrane 1 0 0 1 2 2006-10-31 Q5TF58 IFFO2_HUMAN IFFO2 Intermediate filament family orphan 2 517 57.3 1 0 0 0 1 2 2008-03-18 Q5U4N7 GDAS1_HUMAN GDF5-AS1 Protein GDF5-AS1, mitochondrial 250 28.2 Mitochondrion 0 0 0 5 2 2007-05-29 Q5U649 CL060_HUMAN C12orf60 Uncharacterized protein C12orf60 245 27.6 12 0 0 0 1 2 2007-02-06 Q5VSP4 LC1L1_HUMAN LCN1P1 Putative lipocalin 1-like protein 1 162 17.9 Secreted 0 0 0 5 2 2008-02-26 Q5VU36 S31A5_HUMAN SPATA31A5 Spermatogenesis-associated protein 31A5 1347 148.7 9 Membrane 1 0 0 3 2 2008-01-15 Q5VVB8 TM244_HUMAN TMEM244 Putative transmembrane protein 244 128 14.7 6 Membrane 3 0 0 4 2 2006-05-30 Q5VVH2 FKB1C_HUMAN FKBP1C Peptidyl-prolyl cis-trans isomerase FKBP1C 108 12.2 6 5.2.1.8 0 0 0 1 2 2023-02-22 Q5VVP1 S31A6_HUMAN SPATA31A6 Spermatogenesis-associated protein 31A6 1343 147.8 9 Membrane 1 0 0 3 2 2007-08-21 Q5W064 LIPJ_HUMAN LIPJ Lipase member J 366 42.4 10 3.1.1.- 0 0 0 2 2 2007-05-29 Q5W150 YT011_HUMAN Putative uncharacterized protein MGC163334 140 15.1 0 0 0 1 2 2008-05-20 Q629K1 TRIQK_HUMAN TRIQK Triple QxxK/R motif-containing protein 86 9.7 8 Endoplasmic reticulum membrane 1 0 0 1 2 2008-06-10 Q68D20 PMS2L_HUMAN PMS2CL Protein PMS2CL 193 20.9 0 0 0 1 2 2007-07-24 Q69YW2 STUM_HUMAN STUM Protein stum homolog 141 15 1 Membrane 2 0 0 1 2 2007-02-20 Q6B9Z1 IGFL4_HUMAN IGFL4 Insulin growth factor-like family member 4 124 13.9 19 Secreted 0 0 0 2 2 2005-12-20 Q6L9T8 FA72D_HUMAN FAM72D Protein FAM72D 149 16.7 1 0 0 0 1 2 2008-06-10 Q6MZN7 HCP5_HUMAN HCP5 HLA class I histocompatibility antigen protein P5 132 14.1 0 0 0 1 2 2008-04-08 Q6NUI1 C144L_HUMAN CCDC144NL Putative coiled-coil domain-containing protein 144 N-terminal-like 221 23.8 17 0 0 0 5 2 2008-09-02 Q6NXP0 EFC12_HUMAN EFCAB12 EF-hand calcium-binding domain-containing protein 12 572 66.6 3 0 0 0 1 2 2006-05-30 Q6P047 CH074_HUMAN C8orf74 Uncharacterized protein C8orf74 294 33.7 8 0 0 0 1 2 2007-01-09 Q6PGQ1 DRIC1_HUMAN DRICH1 Aspartate-rich protein 1 229 25.1 22 0 0 0 1 2 2008-02-26 Q6PIV7 S2534_HUMAN SLC25A34 Solute carrier family 25 member 34 304 32.2 1 Mitochondrion inner membrane 6 0 0 1 2 2007-06-26 Q6T311 ARL9_HUMAN ARL9 ADP-ribosylation factor-like protein 9 187 20.8 4 0 0 0 1 2 2005-11-08 Q6UXD1 HRCT1_HUMAN HRCT1 Histidine-rich carboxyl terminus protein 1 115 13.2 9 Membrane 1 0 0 1 2 2008-02-05 Q6UXP3 TM14E_HUMAN TMEM14EP Transmembrane protein 14EP 125 13.6 Membrane 2 0 0 5 2 2008-09-02 Q6UXR4 SPA13_HUMAN SERPINA13P Putative serpin A13 307 34.9 Secreted 0 0 0 5 2 2005-09-27 Q6UXR6 YI004_HUMAN Putative uncharacterized protein UNQ6494/PRO21346 183 19.5 Secreted 0 0 0 5 2 2008-02-05 Q6UXU0 YS002_HUMAN Putative uncharacterized protein UNQ9165/PRO28630 137 14.5 Secreted 0 0 0 2 2 2008-02-05 Q6UY13 YB003_HUMAN Putative uncharacterized protein UNQ5830/PRO19650/PRO19816 95 10.7 Secreted 0 0 0 3 2 2008-02-05 Q6ZMV8 ZN730_HUMAN ZNF730 Putative zinc finger protein 730 503 59 19 Nucleus 0 0 0 1 2 2008-04-08 Q6ZNB5 XNDC1_HUMAN XNDC1N Protein XNDC1N 234 26 11 0 0 0 1 2 2008-07-01 Q6ZRR7 LRRC9_HUMAN LRRC9 Leucine-rich repeat-containing protein 9 1453 166.9 14 0 0 0 1 2 2008-05-20 Q6ZRT6 PR23B_HUMAN PRR23B Proline-rich protein 23B 265 28.3 3 0 0 0 1 2 2008-04-29 Q6ZRV3 CC074_HUMAN LINC00696 Putative uncharacterized protein encoded by LINC00696 163 16.9 0 0 0 5 2 2008-06-10 Q6ZTZ1 MSD1_HUMAN MSANTD1 Myb/SANT-like DNA-binding domain-containing protein 1 278 31.6 4 0 0 0 1 2 2008-02-26 Q6ZVN7 SEML_HUMAN SEM1 Putative protein SEM1, isoform 2 128 14.1 7 0 0 0 2 2 2008-02-26 Q6ZWI9 RFPLB_HUMAN RFPL4B Ret finger protein-like 4B 263 29.9 6 0 0 0 1 2 2007-02-06 Q75LS8 FKB9L_HUMAN FKBP9P1 Putative FK506-binding protein 9-like protein 142 15.6 0 0 0 5 2 2007-11-13 Q7Z2R9 SSAS1_HUMAN SSBP3-AS1 Putative uncharacterized protein SSBP3-AS1 100 11 Secreted 0 0 0 5 2 2007-01-09 Q7Z2X7 PAGE2_HUMAN PAGE2 P antigen family member 2 111 12.1 X 0 0 0 1 2 2006-07-25 Q86SG4 DPCA2_HUMAN HMGN2P46 Putative Dresden prostate carcinoma protein 2 172 20.4 0 0 0 5 2 2005-07-19 Q86SH4 PRNT_HUMAN PRNT Putative testis-specific prion protein 94 10.8 Secreted 0 0 0 5 2 2008-02-26 Q86U02 CN165_HUMAN LINC00596 Putative uncharacterized protein encoded by LINC00596 117 13.5 Membrane 1 0 0 5 2 2006-12-12 Q86UF4 CC190_HUMAN CCDC190 Coiled-coil domain-containing protein 190 302 34.1 1 0 0 0 1 2 2007-02-06 Q8IWA6 CCD60_HUMAN CCDC60 Coiled-coil domain-containing protein 60 550 63.1 12 0 0 0 1 2 2006-06-13 Q8IXQ8 PDZD9_HUMAN PDZD9 PDZ domain-containing protein 9 264 29.9 16 0 0 0 2 2 2007-01-09 Q8IZ63 PRR22_HUMAN PRR22 Proline-rich protein 22 422 44 19 0 0 0 1 2 2008-04-29 Q8N0V1 ZNAS1_HUMAN ZNF295-AS1 Putative uncharacterized protein ZNF295-AS1 137 15 0 0 0 5 2 2005-06-07 Q8N2C3 DEPD4_HUMAN DEPDC4 DEP domain-containing protein 4 294 33.7 12 0 0 0 1 2 2007-04-17 Q8N2U0 TM256_HUMAN TMEM256 Transmembrane protein 256 113 11.7 17 Membrane 2 0 0 1 2 2007-05-15 Q8N4C9 CQ078_HUMAN C17orf78 Uncharacterized protein C17orf78 275 30.6 17 Membrane 1 0 0 2 2 2007-09-11 Q8N4P6 LRC71_HUMAN LRRC71 Leucine-rich repeat-containing protein 71 559 61.8 1 0 0 0 1 2 2007-05-01 Q8N535 CB052_HUMAN LINC00471 Putative uncharacterized protein encoded by LINC00471 108 12.1 0 0 0 5 2 2007-09-11 Q8N6Q8 MET25_HUMAN METTL25 Probable methyltransferase-like protein 25 603 68.2 12 2.1.1.- 0 0 0 1 2 2006-10-03 Q8N7S6 ARI2O_HUMAN ARIH2OS Uncharacterized protein ARIH2OS 290 30.4 3 Membrane 1 0 0 2 2 2008-09-02 Q8N7X8 SIGL1_HUMAN SIGLECL1 SIGLEC family-like protein 1 197 21.3 19 Membrane 1 0 0 1 2 2008-04-29 Q8N8I0 SAM12_HUMAN SAMD12 Sterile alpha motif domain-containing protein 12 201 22.9 8 0 1 Epilepsy, familial adult myoclonic, 1 0 1 2 2007-03-06 Q8N9M1 CS047_HUMAN C19orf47 Uncharacterized protein C19orf47 422 44.7 19 0 0 0 1 2 2007-06-26 Q8N9U9 SPOT1_HUMAN SPANXA2-OT1 Putative uncharacterized protein SPANXA2-OT1 137 13.3 0 0 0 5 2 2008-01-15 Q8NA03 FSIP1_HUMAN FSIP1 Fibrous sheath-interacting protein 1 581 66.1 15 0 0 0 1 2 2008-01-15 Q8NA75 DC4L2_HUMAN DCAF4L2 DDB1- and CUL4-associated factor 4-like protein 2 395 43.7 8 0 0 0 1 2 2006-07-11 Q8NBC4 CT203_HUMAN C20orf203 Uncharacterized protein C20orf203 194 21.2 20 Cytoplasm 0 0 0 1 2 2010-06-15 Q8NBP0 TTC13_HUMAN TTC13 Tetratricopeptide repeat protein 13 860 96.8 1 0 0 0 1 2 2004-09-27 Q8NCQ2 CNAS1_HUMAN CSNK1G2-AS1 Uncharacterized protein CSNK1G2-AS1 148 16.1 0 0 0 2 2 2005-07-19 Q8ND24 RN214_HUMAN RNF214 RING finger protein 214 703 77.7 11 0 0 0 1 2 2007-03-20 Q8NDY8 TMM52_HUMAN TMEM52 Transmembrane protein 52 209 22.1 1 Membrane 1 0 0 1 2 2007-04-17 Q8NEE0 KLAS1_HUMAN KLHL30-AS1 Putative uncharacterized protein KLHL30-AS1 82 9.7 0 0 0 5 2 2006-12-12 Q8NEX5 WFDC9_HUMAN WFDC9 Protein WFDC9 89 10.5 20 Secreted 0 0 0 1 2 2002-12-06 Q8NF67 A2012_HUMAN ANKRD20A12P Putative ankyrin repeat domain-containing protein 20A12 263 31.2 0 0 0 5 2 2008-05-20 Q8NHX4 SPTA3_HUMAN SPATA3 Spermatogenesis-associated protein 3 192 20.9 2 Cell projection 0 0 0 1 2 2003-10-10 Q8TAC1 RFESD_HUMAN RFESD Rieske domain-containing protein 157 17.8 5 0 0 0 1 2 2008-01-15 Q8TAL5 CI043_HUMAN C9orf43 Uncharacterized protein C9orf43 461 52.2 9 0 0 0 1 2 2005-07-19 Q8TD47 RS4Y2_HUMAN RPS4Y2 Small ribosomal subunit protein eS4, Y isoform 2 263 29.3 Y 0 0 0 1 2 2003-01-17 Q8WTQ4 CP078_HUMAN C16orf78 Uncharacterized protein C16orf78 265 30.8 16 0 0 0 1 2 2007-07-24 Q8WUY1 THEM6_HUMAN THEM6 Protein THEM6 208 23.9 8 Secreted 0 0 0 1 2 2007-05-01 Q8WVF5 KCTD4_HUMAN KCTD4 BTB/POZ domain-containing protein KCTD4 259 30 13 0 0 0 1 2 2004-07-19 Q8WWR9 PDPFL_HUMAN PPDPFL Pancreatic progenitor cell differentiation and proliferation factor-like protein 84 9.2 8 0 0 0 1 2 2006-03-21 Q96A19 C102A_HUMAN CCDC102A Coiled-coil domain-containing protein 102A 550 62.6 16 0 0 0 1 2 2007-02-06 Q96FA7 ZB10P_HUMAN ZBED10P Putative protein ZBED10P 236 26.4 7 0 0 0 5 2 2004-05-24 Q96FF7 MISP3_HUMAN MISP3 Uncharacterized protein MISP3 219 24 19 0 0 0 1 2 2008-02-26 Q96GI7 FA89A_HUMAN FAM89A Protein FAM89A 184 19.6 1 0 0 0 1 2 2007-01-09 Q96IR2 ZN845_HUMAN ZNF845 Zinc finger protein 845 970 113.1 19 Nucleus 0 0 0 1 2 2008-09-02 Q96KW2 P12L2_HUMAN POM121L2 POM121-like protein 2 1035 109.9 6 0 0 0 1 2 2007-06-26 Q96M60 F227B_HUMAN FAM227B Protein FAM227B 508 60 15 0 0 0 1 2 2006-06-27 Q96MC4 C295L_HUMAN CEP295NL CEP295 N-terminal-like protein 621 69.8 17 Cell projection 0 0 0 1 2 2013-05-01 Q96MP5 ZSWM3_HUMAN ZSWIM3 Zinc finger SWIM domain-containing protein 3 696 79.5 20 0 0 0 1 2 2003-10-10 Q96NS8 CLUP3_HUMAN CLUHP3 Putative protein CLUHP3 147 16.7 0 0 0 5 2 2007-04-03 Q96PG1 M4A4E_HUMAN MS4A4E Putative membrane-spanning 4-domains subfamily A member 4E 132 15.2 11 Membrane 2 0 0 2 2 2003-05-09 Q96PP4 TSG13_HUMAN TSGA13 Testis-specific gene 13 protein 275 31.8 7 0 0 0 1 2 2007-05-01 Q96QU4 FRG2B_HUMAN FRG2B Protein FRG2-like-1 278 30.6 10 Nucleus 0 0 0 2 2 2007-09-11 Q9BVG4 PBDC1_HUMAN PBDC1 Protein PBDC1 233 26.1 X 0 0 0 1 2 2006-10-31 Q9BXJ2 C1QT7_HUMAN C1QTNF7 Complement C1q tumor necrosis factor-related protein 7 289 30.7 4 Secreted 0 0 0 1 2 2002-04-16 Q9BXQ6 T121B_HUMAN TMEM121B Transmembrane protein 121B 578 58.4 22 0 0 0 1 2 2002-04-16 Q9BY89 K1671_HUMAN KIAA1671 Uncharacterized protein KIAA1671 1806 196.7 22 0 0 0 1 2 2007-05-15 Q9BZ19 ANR60_HUMAN ANKRD60 Ankyrin repeat domain-containing protein 60 345 37.6 20 0 0 0 1 2 2002-12-06 Q9BZ97 TTY13_HUMAN TTTY13 Putative transcript Y 13 protein 58 6.3 Membrane 1 0 0 5 2 2003-01-17 Q9BZA5 TXNG2_HUMAN TXLNGY Putative gamma-taxilin 2 131 14.6 0 0 0 5 2 2005-02-15 Q9BZP3 CR002_HUMAN LINC00470 Putative uncharacterized protein encoded by LINC00470 86 9.6 0 0 0 5 2 2008-04-08 Q9GZL8 BPEC1_HUMAN BPESC1 Putative BPES syndrome breakpoint region protein 116 12.7 0 0 0 1 2 2001-04-27 Q9H1C3 GL8D2_HUMAN GLT8D2 Glycosyltransferase 8 domain-containing protein 2 349 40 12 2.4.1.- Membrane 1 0 0 1 2 2007-01-09 Q9H1X3 DJC25_HUMAN DNAJC25 DnaJ homolog subfamily C member 25 360 42.4 9 Membrane 3 0 0 1 2 2008-09-02 Q9H560 ANR19_HUMAN ANKRD19P Putative ankyrin repeat domain-containing protein 19 264 30.4 0 0 0 5 2 2006-06-27 Q9H607 OCEL1_HUMAN OCEL1 Occludin/ELL domain-containing protein 1 264 29.4 19 0 0 0 1 2 2007-01-09 Q9H7F4 T185B_HUMAN TMEM185B Transmembrane protein 185B 350 40.6 2 Membrane 7 0 0 1 2 2004-07-19 Q9HBI5 CEP15_HUMAN CEP15 Centrosomal protein 15 128 15 3 Cell projection 0 0 0 1 2 2005-07-05 Q9NUD7 CT096_HUMAN C20orf96 Uncharacterized protein C20orf96 363 42.9 20 0 0 0 1 2 2002-12-06 Q9NZF1 PLAC8_HUMAN PLAC8 Placenta-specific gene 8 protein 115 12.5 4 0 0 0 1 2 2003-09-19 Q9NZY2 FA30A_HUMAN FAM30A Putative uncharacterized protein FAM30A 134 14.6 0 0 0 5 2 2005-07-05 Q9P2X7 DEC1_HUMAN DELEC1 Deleted in esophageal cancer 1 70 7.5 0 0 0 2 2 2006-06-27 Q9P2X8 CI027_HUMAN LINC00474 Putative uncharacterized protein encoded by LINC00474 69 7.9 0 0 0 5 2 2005-07-19 Q9UJQ7 SCP2D_HUMAN SCP2D1 SCP2 sterol-binding domain-containing protein 1 156 17.7 20 0 0 0 2 2 2002-11-08 Q9UK00 CC018_HUMAN C3orf18 Uncharacterized protein C3orf18 162 17.5 3 Membrane 1 0 0 1 2 2006-03-21 Q9Y546 LRC42_HUMAN LRRC42 Leucine-rich repeat-containing protein 42 428 48.6 1 0 0 0 1 2 2006-02-21 S4R3Y5 HMN11_HUMAN MTRNR2L11 Humanin-like 11 24 2.7 1 Secreted; Cytoplasm 0 0 0 3 2 2014-11-26 A0A075B6Y9 TJA42_HUMAN TRAJ42 T cell receptor alpha joining 42 20 2.1 14 Cell membrane 0 0 0 4 2 2019-05-08 A0A075B759 PAL4E_HUMAN PPIAL4E Peptidyl-prolyl cis-trans isomerase A-like 4E 164 18.2 1 5.2.1.8 Cytoplasm 0 0 0 3 2 2015-10-14 A0A087X1G2 TBC3K_HUMAN TBC1D3K TBC1 domain family member 3K 549 62.2 17 Cell membrane 0 0 0 3 2 2015-01-07 A0A0A0MT70 TJB26_HUMAN TRBJ2-6 T cell receptor beta joining 2-6 17 1.7 Cell membrane 0 0 0 4 2 2019-06-05 A0A0J9YWX3 TJB16_HUMAN TRBJ1-6 T cell receptor beta joining 1-6 17 1.9 7 Cell membrane 0 0 0 4 2 2019-05-08 A0A0U1RQE8 GLYLB_HUMAN GLYATL1B Putative glycine N-acyltransferase-like protein 1B 302 34.6 11 2.3.1.68 0 0 0 1 2 2018-06-20 A0A0U1RQS6 TM275_HUMAN TMEM275 Transmembrane protein 275 177 17.2 1 Membrane 2 0 0 1 2 2019-02-13 A0A183 LCE6A_HUMAN LCE6A Late cornified envelope protein 6A 80 9 1 0 0 0 1 2 2008-01-15 A0A1B0GTZ2 CC196_HUMAN CCDC196 Coiled-coil domain-containing protein 196 297 34.5 14 0 0 0 1 2 2017-09-27 A0A1B0GUY1 MRCOL_HUMAN MARCOL MARCO-like protein 285 29.8 5 0 0 0 1 2 2018-02-28 A0A1B0GVR7 F240C_HUMAN FAM240C Protein FAM240C 95 10.8 2 0 0 0 1 2 2019-06-05 A0A1B0GVY4 SIM31_HUMAN SMIM31 Small integral membrane protein 31 71 8.4 4 Membrane 1 0 0 3 2 2018-02-28 A0A1B0GWK0 PVLEF_HUMAN PVALEF Parvalbumin-like EF-hand-containing protein 134 15.3 17 0 0 0 3 2 2018-01-31 A0A1W2PPF3 DUXB_HUMAN DUXB Double homeobox protein B 345 40.4 16 Nucleus 0 0 0 2 2 2019-09-18 A0A1W2PPG7 GBG14_HUMAN GNG14 Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14 107 11.5 19 Cell membrane 0 0 0 3 2 2017-09-27 A0A1W2PR48 TLE7_HUMAN TLE7 Transducin-like enhancer protein 7 441 48.7 16 0 0 0 1 2 2018-02-28 A0A2R8YFM6 OOSP3_HUMAN OOSP3 Oocyte-secreted protein 3 193 21.2 11 Secreted 0 0 0 3 2 2018-10-10 A0A494C086 SPD21_HUMAN SPDYE21 Speedy protein E21 402 48.1 7 0 0 0 3 2 2020-12-02 A0A8V8TMC4 CYL1B_HUMAN CCNYL1B Cyclin-Y-like protein 1B 285 32.7 16 0 0 0 3 2 2023-09-13 A0A8V8TNH8 F90AB_HUMAN FAM90A11 Protein FAM90A11 464 49.7 8 0 0 0 1 2 2024-01-24 A0PJX8 TMM82_HUMAN TMEM82 Transmembrane protein 82 343 37.2 1 Membrane 8 0 0 1 2 2007-11-13 A0PJZ0 A20A5_HUMAN ANKRD20A5P Putative ankyrin repeat domain-containing protein 20A5 165 18.4 0 0 0 5 2 2008-09-02 A1A4G5 LNP1_HUMAN LNP1 Leukemia NUP98 fusion partner 1 178 21.3 3 0 0 0 1 2 2008-06-10 A1L162 ERIC2_HUMAN ERICH2 Glutamate-rich protein 2 156 17.7 2 0 0 0 1 2 2008-09-02 A1L429 GG12C_HUMAN GAGE12B G antigen 12B/C/D/E 117 12.9 X 0 0 0 1 2 2007-12-04 A2RU37 CI170_HUMAN LINC02872 Uncharacterized protein encoded by LINC02872 121 13.4 0 0 0 5 2 2008-09-23 A2RUT3 TMM89_HUMAN TMEM89 Transmembrane protein 89 159 17.6 3 Membrane 1 0 0 1 2 2007-06-12 A4D1Z8 GRIFN_HUMAN GRIFIN Grifin 144 16 7 0 0 0 2 2 2008-01-15 A6NC05 YD286_HUMAN C5orf63 Glutaredoxin-like protein C5orf63 138 15.8 5 0 0 0 1 2 2008-04-08 A6NDY2 F90AA_HUMAN FAM90A10 Protein FAM90A10 464 49.6 8 0 0 0 3 2 2007-09-11 A6NDZ8 MB3L4_HUMAN MBD3L4 Methyl-CpG-binding domain protein 3-like 4 208 23.1 19 0 0 0 3 2 2008-09-02 A6NEE1 PLHD1_HUMAN PLEKHD1 Pleckstrin homology domain-containing family D member 1 506 59.2 14 0 0 0 1 2 2008-09-02 A6NEF3 GG6L4_HUMAN GOLGA6L4 Golgin subfamily A member 6-like protein 4 574 67.6 15 0 0 0 3 2 2008-04-29 A6NEH8 ZNAS2_HUMAN ZNF503-AS2 Putative uncharacterized protein encoded by ZNF503-AS2 195 20.9 0 0 0 5 2 2008-02-05 A6NEK1 ARRD5_HUMAN ARRDC5 Arrestin domain-containing protein 5 328 36.8 19 Membrane 0 0 0 1 2 2007-11-13 A6NEY8 PRXD1_HUMAN PRORSD1P Putative prolyl-tRNA synthetase associated domain-containing protein 1 169 18.7 0 0 0 5 2 2008-04-08 A6NF01 P121B_HUMAN POM121B Putative nuclear envelope pore membrane protein POM 121B 834 83 Nucleus 0 0 0 5 2 2008-09-02 A6NFU0 F187A_HUMAN FAM187A Ig-like V-type domain-containing protein FAM187A 413 47.3 17 Membrane 1 0 0 1 2 2008-06-10 A6NFY4 NEMP2_HUMAN NEMP2 Nuclear envelope integral membrane protein 2 417 48.7 2 Nucleus inner membrane 5 0 0 1 2 2008-04-29 A6NFZ4 FA24A_HUMAN FAM24A Protein FAM24A 105 11.3 10 Secreted 0 0 0 1 2 2008-02-05 A6NGH7 CC160_HUMAN CCDC160 Coiled-coil domain-containing protein 160 325 38.3 X 0 0 0 1 2 2008-09-02 A6NHG4 DDTL_HUMAN DDTL Putative D-dopachrome decarboxylase-like protein 134 14.2 22 4.1.1.- Cytoplasm 0 0 0 5 2 2008-05-20 A6NHP3 SPE2B_HUMAN SPDYE2B Speedy protein E2B 402 48.3 7 0 0 0 3 2 2008-04-29 A6NIY4 SPDE5_HUMAN SPDYE5 Speedy protein E5 402 48 7 0 0 0 3 2 2008-04-08 A6NKC0 F90A7_HUMAN FAM90A7 Protein FAM90A7 464 49.8 8 0 0 0 3 2 2007-09-11 A6NKF7 TM278_HUMAN TMEM278 Transmembrane protein 278 163 17.1 1 Membrane 2 0 0 1 2 2008-09-02 A6NKW6 SHL2B_HUMAN SHISAL2B Protein shisa-like-2B 160 17.7 5 Membrane 1 0 0 1 2 2008-02-05 A6NLC5 CC070_HUMAN C3orf70 UPF0524 protein C3orf70 250 27.8 3 0 0 0 1 2 2008-02-26 A6NLE4 SIM23_HUMAN SMIM23 Small integral membrane protein 23 172 20 5 Cell membrane 1 0 0 2 2 2008-06-10 A6NLI5 TR64C_HUMAN TRIM64C Tripartite motif-containing protein 64C 450 51.5 11 0 0 0 3 2 2008-06-10 A6NMD0 IFM10_HUMAN IFITM10 Interferon-induced transmembrane protein 10 228 24.6 11 Cell membrane 2 0 0 1 2 2008-04-29 A6NN90 CB081_HUMAN C2orf81 Uncharacterized protein C2orf81 582 63.2 2 0 0 0 1 2 2008-04-08 A6NNT2 CP096_HUMAN C16orf96 Uncharacterized protein C16orf96 1141 125 16 0 0 0 1 2 2008-07-22 A8K010 CF176_HUMAN LINC00473 Putative transcriptional regulator encoded by LINC00473 186 21.1 0 0 0 5 2 2008-02-05 A8MQ14 ZN850_HUMAN ZNF850 Zinc finger protein 850 1090 125.4 19 Nucleus 0 0 0 1 2 2008-04-29 A8MUL3 ADAS1_HUMAN ADARB2-AS1 Putative uncharacterized protein ADARB2-AS1 147 15.8 0 0 0 5 2 2008-06-10 A8MVJ9 HPF1L_HUMAN Putative histone PARylation factor 1-like 347 39.7 0 0 0 5 2 2008-07-01 A8MWL6 SNG2L_HUMAN Putative synaptogyrin-2 like protein 223 24.6 Membrane 4 0 0 5 2 2008-07-22 A8MX19 F90AC_HUMAN FAM90A12 Protein FAM90A12 464 49.8 8 0 0 0 1 2 2008-04-29 A8MX34 KR291_HUMAN KRTAP29-1 Keratin-associated protein 29-1 341 35.2 17 0 0 0 1 2 2008-09-02 A8MXZ1 F90AN_HUMAN FAM90A23 Protein FAM90A23 464 49.9 8 0 0 0 3 2 2008-06-10 B1AH88 TSPOB_HUMAN TSPO Putative peripheral benzodiazepine receptor-related protein 102 10.5 22 0 0 0 5 2 2009-07-28 B2RD01 CENP1_HUMAN CENPBD1P Putative CENPB DNA-binding domain-containing protein 1 187 21.1 16 Nucleus 0 0 0 5 2 2010-06-15 B4DZS4 T11X1_HUMAN TCP11X1 T-complex protein 11-like X-linked protein 1 502 56.9 X 0 0 0 2 2 2013-10-16 B4E2M5 ANR66_HUMAN ANKRD66 Ankyrin repeat domain-containing protein 66 196 22 6 0 0 0 1 2 2013-03-06 B5MCY1 TDR15_HUMAN TDRD15 Tudor domain-containing protein 15 1934 221.7 2 0 0 0 1 2 2013-04-03 B7Z368 CJ142_HUMAN LINC02881 Uncharacterized protein encoded by LINC02881 130 13.8 10 0 0 0 5 2 2015-06-24 C9JI98 TM238_HUMAN TMEM238 Transmembrane protein 238 176 18 19 Membrane 2 0 0 1 2 2011-10-19 C9JTQ0 ANR63_HUMAN ANKRD63 Ankyrin repeat domain-containing protein 63 380 39.6 15 0 0 0 1 2 2011-07-27 D6RBM5 U17LN_HUMAN USP17L23 Ubiquitin carboxyl-terminal hydrolase 17-like protein 23 183 20.3 4 Nucleus; Endoplasmic reticulum 0 0 0 3 2 2013-02-06 D6RGX4 F90AP_HUMAN FAM90A26 Protein FAM90A26 464 49.9 4 0 0 0 1 2 2018-07-18 E5RG02 PRS46_HUMAN PRSS46P Putative serine protease 46 174 19.3 3.4.21.- 0 0 0 3 2 2012-07-11 E9PGG2 ANHX_HUMAN ANHX Anomalous homeobox protein 379 41.7 12 Nucleus 0 0 0 1 2 2012-07-11 E9PKD4 NPIA5_HUMAN NPIPA5 Nuclear pore complex-interacting protein family member A5 350 40.1 16 0 0 0 2 2 2013-10-16 E9PQR5 NPIB8_HUMAN NPIPB8 Nuclear pore complex-interacting protein family member B8 432 49.6 16 0 0 0 3 2 2013-10-16 F8VTS6 RFAL1_HUMAN RFPL4AL1 Ret finger protein-like 4A-like protein 1 287 32.2 19 0 0 0 1 2 2013-05-29 F8WBI6 GOG8N_HUMAN GOLGA8N Golgin subfamily A member 8N 632 71.5 15 0 0 0 3 2 2013-01-09 H3BQW9 F229A_HUMAN FAM229A Protein FAM229A 127 13 1 0 0 0 3 2 2013-03-06 I3L1E1 CS084_HUMAN C19orf84 piRNA-mediated silencing protein C19orf84 186 19.6 19 Nucleus 0 0 0 1 2 2014-02-19 K7EIQ3 CS082_HUMAN ZNF561-AS1 Uncharacterized protein ZNF561-AS1 104 11.6 0 0 0 4 2 2013-09-18 O00193 SMAP_HUMAN SMAP Small acidic protein 183 20.3 11 0 0 0 1 2 2006-12-12 O15428 PINL_HUMAN PIN1P1 Putative PIN1-like protein 100 11 0 0 0 5 2 2000-05-30 P0C2W7 CT47B_HUMAN CT47B1 Cancer/testis antigen family 47 member B1 299 31.3 X 0 0 0 1 2 2007-05-01 P0C7M6 IQCF3_HUMAN IQCF3 IQ domain-containing protein F3 154 18.3 3 0 0 0 1 2 2008-06-10 P0C7N4 T191B_HUMAN TMEM191B Transmembrane protein 191B 346 39.1 22 Membrane 1 0 0 1 2 2008-06-10 P0C7V6 SP202_HUMAN SUPT20HL2 Transcription factor SPT20 homolog-like 2 817 87.5 X 0 0 0 1 2 2008-07-22 P0C7W9 F90AE_HUMAN FAM90A14 Protein FAM90A14 464 50 8 0 0 0 3 2 2008-07-22 P0C853 BAAS2_HUMAN BAALC-AS2 Putative uncharacterized protein BAALC-AS2 105 11.6 0 0 0 5 2 2008-09-02 P0CB33 ZN735_HUMAN ZNF735 Zinc finger protein 735 412 47.6 7 Nucleus 0 0 0 3 2 2009-09-22 P0CF75 EBLN1_HUMAN EBLN1 Endogenous Bornavirus-like nucleoprotein 1 366 40.3 10 0 0 0 2 2 2010-05-18 P0CG33 GOG6D_HUMAN GOLGA6D Golgin subfamily A member 6D 693 79.9 15 0 0 0 1 2 2010-07-13 P0CJ69 HMN2_HUMAN MTRNR2L2 Humanin-like 2 28 3.1 Secreted; Cytoplasm 0 0 0 2 2 2011-02-08 P0CJ78 ZN865_HUMAN ZNF865 Zinc finger protein 865 1059 111.1 19 Nucleus 0 0 0 1 2 2011-02-08 P0CJ90 DU4L7_HUMAN DUX4L7 Double homeobox protein 4-like protein 7 424 44.9 Nucleus 0 0 0 3 2 2011-03-08 P0CJ92 GOG8H_HUMAN GOLGA8H Golgin subfamily A member 8H 632 71.3 15 0 0 0 3 2 2011-03-08 P0CV99 TSPY4_HUMAN TSPY4 Testis-specific Y-encoded protein 4 314 35.7 Y Cytoplasm; Nucleus 0 0 0 3 2 2011-05-03 P0DJR0 GIMD1_HUMAN GIMD1 GTPase IMAP family member GIMD1 217 24.5 4 0 0 0 1 2 2012-10-03 P0DMV0 CT457_HUMAN CT45A7 Cancer/testis antigen family 45 member A7 189 21.2 X 0 0 0 3 2 2015-05-27 P0DN25 C1C1L_HUMAN C1GALT1C1L C1GALT1-specific chaperone 1-like protein 315 36.4 2 Membrane 1 0 0 1 2 2015-10-14 P0DPE3 TMDD1_HUMAN TMDD1 Transmembrane and death domain protein 1 317 33.6 12 Membrane 1 0 0 1 2 2018-01-31 P0DPH9 CX05B_HUMAN CXorf51B Uncharacterized protein CXorf51B 108 12 X 0 0 0 1 2 2018-07-18 P0DPI4 TDB01_HUMAN TRBD1 T cell receptor beta diversity 1 4 0.3 7 Cell membrane 0 0 0 4 2 2018-07-18 P0DPR3 TRDD1_HUMAN TRDD1 T cell receptor delta diversity 1 2 0.3 14 Cell membrane 0 0 0 1 2 2018-12-05 P0DQW0 ZC11C_HUMAN ZC3H11C Zinc finger CCCH domain-containing protein 11C 805 88.9 6 0 0 0 1 2 2022-12-14 P0DSO3 GAGE4_HUMAN GAGE4 G antigen 4 117 13 0 0 0 5 2 2020-08-12 P0DTF9 PTIP2_HUMAN PTTG1IP2 PTTG1IP family member 2 154 18.3 7 Membrane 1 0 0 1 2 2021-02-10 P0DUD1 SPD8_HUMAN SPDYE8 Speedy protein E8 265 31.4 7 0 0 0 3 2 2020-12-02 P0DUD4 SPD15_HUMAN SPDYE15 Speedy protein E15 265 31.5 7 0 0 0 3 2 2020-12-02 P0DUQ1 PRA15_HUMAN PRAMEF15 PRAME family member 15 478 55.4 1 0 0 0 2 2 2021-09-29 P0DUX1 SPD12_HUMAN SPDYE12 Speedy protein E12 265 31.5 7 0 0 0 3 2 2021-09-29 P0DX01 GG6LY_HUMAN GOLGA6L25 Golgin subfamily A member 6-like protein 25 826 104.1 15 0 0 0 3 2 2022-12-14 P56555 DSCR4_HUMAN DSCR4 Down syndrome critical region protein 4 118 13 0 0 0 1 2 1998-07-15 P59036 CU082_HUMAN LINC00310 Putative uncharacterized protein encoded by LINC00310 64 7.3 0 0 0 5 2 2002-10-19 P59091 CU093_HUMAN LINC00315 Putative uncharacterized protein encoded by LINC00315 139 15.1 0 0 0 5 2 2002-11-15 P60606 CTXN1_HUMAN CTXN1 Cortexin-1 82 9 19 Membrane 1 0 0 1 2 2004-03-15 P61573 REC9_HUMAN ERVK-9 Endogenous retrovirus group K member 9 Rec protein 105 11.8 Cytoplasm; Nucleus 0 0 0 1 2 2004-05-24 P61579 ERK25_HUMAN ERVK-25 Endogenous retrovirus group K member 25 Rec protein 105 11.8 Cytoplasm; Nucleus 0 0 0 1 2 2004-05-24 P61581 NP24_HUMAN ERVK-24 Endogenous retrovirus group K member 24 Np9 protein 75 8.9 Nucleus 0 0 0 1 2 2004-05-24 P61582 NP7_HUMAN ERVK-7 Endogenous retrovirus group K member 7 Np9 protein 75 8.8 Nucleus 0 0 0 3 2 2004-05-24 P86481 PR20B_HUMAN PRR20B Proline-rich protein 20B 221 23.3 13 0 0 0 3 2 2010-04-20 Q0IIN9 ZNFS1_HUMAN ZNF252P-AS1 Putative uncharacterized protein ZNF252P-AS1 211 22.5 0 0 0 5 2 2007-05-01 Q13278 RIG_HUMAN RIG Putative protein RIG 110 12 0 0 0 5 2 2008-09-02 Q17RA5 CMAS1_HUMAN EPCIP-AS1 Putative uncharacterized protein EPCIP-AS1 79 8.9 0 0 0 5 2 2007-10-23 Q17RM4 CC142_HUMAN CCDC142 Coiled-coil domain-containing protein 142 750 81.6 2 0 0 0 1 2 2007-11-13 Q3C1V0 M4A18_HUMAN MS4A18 Membrane-spanning 4-domains subfamily A member 18 398 42 11 Membrane 4 0 0 2 2 2010-07-13 Q3LI61 KR202_HUMAN KRTAP20-2 Keratin-associated protein 20-2 65 7 21 0 0 0 1 2 2006-02-21 Q3LI63 KR201_HUMAN KRTAP20-1 Keratin-associated protein 20-1 56 6.2 21 0 0 0 3 2 2006-02-21 Q3MIV0 KR221_HUMAN KRTAP22-1 Keratin-associated protein 22-1 48 5.3 21 0 0 0 3 2 2006-02-21 Q494R0 FBAS1_HUMAN FBXL19-AS1 Putative uncharacterized protein FBXL19-AS1 122 13.2 0 0 0 5 2 2008-06-10 Q49AG3 ZBED5_HUMAN ZBED5 Zinc finger BED domain-containing protein 5 693 78.9 11 0 0 0 1 2 2007-06-26 Q4G0N7 F229B_HUMAN FAM229B Protein FAM229B 80 8.7 6 0 0 0 1 2 2008-05-20 Q4V348 Z658B_HUMAN ZNF658B Zinc finger protein 658B 819 94.3 Nucleus 0 0 0 2 2 2007-03-20 Q53LP3 SWAHC_HUMAN SOWAHC Ankyrin repeat domain-containing protein SOWAHC 525 55.7 2 0 0 0 1 2 2007-02-06 Q56UQ5 TPT1L_HUMAN TPT1-like protein 140 15.8 0 0 0 1 2 2006-10-03 Q587I9 SFT2C_HUMAN SFT2D3 Vesicle transport protein SFT2C 215 21.8 2 Membrane 4 0 0 1 2 2006-05-30 Q5BKU9 OXLD1_HUMAN OXLD1 Oxidoreductase-like domain-containing protein 1 147 15.9 17 0 0 0 1 2 2008-01-15 Q5FWF7 FBX48_HUMAN FBXO48 F-box only protein 48 155 18.2 2 0 0 0 1 2 2008-05-20 Q5GAN3 RNS13_HUMAN RNASE13 Probable inactive ribonuclease-like protein 13 156 17.8 14 Secreted 0 0 0 1 2 2007-10-23 Q5H943 KKLC1_HUMAN CT83 Kita-kyushu lung cancer antigen 1 113 12.8 X Cell membrane 1 0 0 1 2 2007-07-10 Q5JYT7 K1755_HUMAN KIAA1755 Uncharacterized protein KIAA1755 1200 130.8 20 0 0 0 1 2 2008-02-05 Q5MJ07 SPXN5_HUMAN SPANXN5 Sperm protein associated with the nucleus on the X chromosome N5 72 8.3 X 0 0 0 3 2 2007-05-01 Q5QJ38 TCHL1_HUMAN TCHHL1 Trichohyalin-like protein 1 904 99.3 1 0 0 0 1 2 2008-06-10 Q5SQ80 A20A2_HUMAN ANKRD20A2P Putative ankyrin repeat domain-containing protein 20A2 823 94.1 9 0 0 0 5 2 2006-06-27 Q5SWH9 TMM69_HUMAN TMEM69 Transmembrane protein 69 247 27.6 1 Membrane 5 0 0 1 2 2007-04-03 Q5SWL8 PRA19_HUMAN PRAMEF19 PRAME family member 19 479 55.2 1 0 0 0 3 2 2007-06-12 Q5SY13 COAS1_HUMAN COL5A1-AS1 Putative uncharacterized protein encoded by COL5A1-AS1 56 6.6 0 0 0 5 2 2008-06-10 Q5T0U0 CC122_HUMAN CCDC122 Coiled-coil domain-containing protein 122 273 32.2 13 0 0 0 1 2 2007-05-15 Q5T2N8 ATD3C_HUMAN ATAD3C ATPase family AAA domain-containing protein 3C 411 46.4 1 0 0 0 1 2 2007-12-04 Q5T5F5 A4AS1_HUMAN ADAMTSL4-AS1 Uncharacterized protein ADAMTSL4-AS1 129 14.1 0 0 0 2 2 2007-05-15 Q5T742 ZFAS1_HUMAN ZNF22-AS1 Uncharacterized protein ZNF22-AS1 122 14.4 Secreted 0 0 0 5 2 2005-07-19 Q5T8I3 EEIG2_HUMAN EEIG2 EEIG family member 2 360 39.3 1 0 0 0 1 2 2006-05-16 Q5T953 IER5L_HUMAN IER5L Immediate early response gene 5-like protein 404 42.1 9 0 0 0 1 2 2008-05-20 Q5TBE3 CI153_HUMAN C9orf153 Uncharacterized protein C9orf153 101 11.3 9 0 0 0 1 2 2006-04-04 Q5TGI0 FAXC_HUMAN FAXC Failed axon connections homolog 409 46.8 6 Membrane 1 0 0 1 2 2005-08-30 Q5TGL8 PXDC1_HUMAN PXDC1 PX domain-containing protein 1 231 26.6 6 0 0 0 1 2 2007-08-21 Q5VTA0 PRA17_HUMAN PRAMEF17 PRAME family member 17 474 54.8 1 0 0 0 1 2 2007-06-12 Q5VTL7 FNDC7_HUMAN FNDC7 Fibronectin type III domain-containing protein 7 733 78.2 1 Secreted 0 0 0 1 2 2008-04-08 Q5VUR7 A20A3_HUMAN ANKRD20A3P Putative ankyrin repeat domain-containing protein 20A3 823 94.1 9 0 0 0 5 2 2006-06-27 Q5VUY2 ADCL4_HUMAN AADACL4 Arylacetamide deacetylase-like 4 407 46.1 1 3.1.1.- Membrane 1 0 0 3 2 2006-12-12 Q5VW00 DC122_HUMAN DCAF12L2 DDB1- and CUL4-associated factor 12-like protein 2 463 50.8 X 0 0 0 1 2 2007-10-02 Q5VYP0 S31A3_HUMAN SPATA31A3 Spermatogenesis-associated protein 31A3 1347 148.7 9 Membrane 1 0 0 2 2 2008-01-15 Q5VYY1 ANR22_HUMAN ANKRD22 Ankyrin repeat domain-containing protein 22 191 21.8 10 0 0 0 1 2 2006-06-27 Q5VZQ5 TEX36_HUMAN TEX36 Testis-expressed protein 36 186 21.5 10 0 0 0 1 2 2006-06-27 Q658T7 F90A2_HUMAN FAM90A2P Putative protein FAM90A2P 463 50.1 0 0 0 5 2 2008-07-22 Q6NSI1 AR26L_HUMAN ANKRD26P1 Putative ankyrin repeat domain-containing protein 26-like protein 321 35.4 0 0 0 5 2 2008-03-18 Q6NUN7 JHY_HUMAN JHY Jhy protein homolog 778 88.6 11 0 0 0 1 2 2007-03-20 Q6NVV0 MKRN5_HUMAN MKRN9P Putative makorin-5 33 3.8 0 0 0 5 2 2008-07-01 Q6P1X6 CH082_HUMAN C8orf82 UPF0598 protein C8orf82 216 23.9 8 0 0 0 1 2 2008-06-10 Q6P387 CP046_HUMAN C16orf46 Uncharacterized protein C16orf46 395 43.4 16 0 0 0 1 2 2007-03-06 Q6P5R6 RL22L_HUMAN RPL22L1 Ribosomal protein eL22-like 122 14.6 3 0 0 0 1 2 2006-06-27 Q6PIY5 ARMD1_HUMAN ARMH1 Armadillo-like helical domain containing protein 1 440 48.9 1 0 0 0 1 2 2008-02-26 Q6UWF9 F180A_HUMAN FAM180A Protein FAM180A 173 19.7 7 Secreted 0 0 0 1 2 2008-02-05 Q6UWH6 TX261_HUMAN TEX261 Protein TEX261 196 22.5 2 Membrane 5 0 0 1 2 2006-07-25 Q6UYE1 LEU7_HUMAN DLEU7 Leukemia-associated protein 7 221 23.9 13 0 0 0 1 2 2007-04-03 Q6ZMN8 CCNI2_HUMAN CCNI2 Cyclin-I2 369 40.6 5 0 0 0 1 2 2008-05-20 Q6ZMU1 C3P1_HUMAN C3P1 Putative protein C3P1 363 40.2 0 0 0 5 2 2008-07-22 Q6ZN92 DUTL_HUMAN Putative inactive deoxyuridine 5'-triphosphate nucleotidohydrolase-like protein FLJ16323 141 15.5 0 0 0 5 2 2008-06-10 Q6ZQQ2 S31D1_HUMAN SPATA31D1 Spermatogenesis-associated protein 31D1 1576 175.6 9 Membrane 1 0 0 1 2 2008-04-29 Q6ZQY2 LR74B_HUMAN LRRC74B Leucine-rich repeat-containing protein 74B 392 41.6 22 0 0 0 1 2 2008-02-26 Q6ZRC1 CD050_HUMAN C4orf50 Uncharacterized protein C4orf50 1508 167.1 4 0 0 0 2 2 2008-04-08 Q6ZRK6 CCD73_HUMAN CCDC73 Coiled-coil domain-containing protein 73 1079 124.2 11 0 0 0 1 2 2007-05-01 Q6ZRP0 PR23C_HUMAN PRR23C Proline-rich protein 23C 262 27.8 3 0 0 0 2 2 2008-04-29 Q6ZS02 DMP46_HUMAN DNM1P46 Putative GED domain-containing protein DNM1P46 220 23.7 0 0 0 5 2 2007-05-15 Q6ZS62 COLC1_HUMAN COLCA1 Colorectal cancer-associated protein 1 124 13.4 Membrane 1 0 0 2 2 2008-06-10 Q6ZUA9 MROH5_HUMAN MROH5 Maestro heat-like repeat family member 5 1318 149.1 0 0 0 2 2 2013-04-03 Q6ZUS5 CC121_HUMAN CCDC121 Coiled-coil domain-containing protein 121 278 33.1 2 0 0 0 1 2 2007-05-15 Q6ZV80 CB091_HUMAN LINC02898 Putative uncharacterized protein LINC02898 131 14.8 0 0 0 5 2 2012-04-18 Q6ZW13 CP086_HUMAN C16orf86 Uncharacterized protein C16orf86 317 33.5 16 0 0 0 1 2 2008-02-26 Q7Z4B0 CR020_HUMAN LINC00305 Putative uncharacterized protein encoded by LINC00305 112 12.6 Secreted 0 0 0 5 2 2005-07-19 Q7Z7L8 CK096_HUMAN C11orf96 Uncharacterized protein C11orf96 122 13.8 11 Cytoplasm 0 0 0 1 2 2008-02-26 Q86T23 CROL1_HUMAN CROCCP2 Putative ciliary rootlet coiled-coil protein-like 1 protein 111 12.4 0 0 0 5 2 2007-11-13 Q86TZ1 TTC6_HUMAN TTC6 Tetratricopeptide repeat protein 6 520 59.4 14 0 0 0 1 2 2003-09-26 Q86U17 SPA11_HUMAN SERPINA11 Serpin A11 422 47 14 Secreted 0 0 0 1 2 2005-09-27 Q86UD7 TBC26_HUMAN TBC1D26 TBC1 domain family member 26 250 28.8 17 0 0 0 2 2 2008-05-20 Q86UV7 TRI73_HUMAN TRIM73 Tripartite motif-containing protein 73 250 28.5 7 0 0 0 2 2 2004-12-07 Q86V85 GP180_HUMAN GPR180 Integral membrane protein GPR180 440 49.4 13 Membrane 7 0 0 1 2 2006-06-13 Q8IVB5 LIX1L_HUMAN LIX1L LIX1-like protein 337 36.6 1 0 0 0 1 2 2006-04-18 Q8IVF1 NTM2A_HUMAN NUTM2A NUT family member 2A 878 93.9 10 0 0 0 2 2 2006-12-12 Q8IVK1 GLCM1_HUMAN GLYCAM1 Putative glycosylation-dependent cell adhesion molecule 1 47 5 0 0 0 5 2 2008-07-01 Q8IXS0 F217A_HUMAN FAM217A Protein FAM217A 508 57.4 6 0 0 0 1 2 2005-08-16 Q8N0U4 F185A_HUMAN FAM185A Protein FAM185A 392 42.3 7 0 0 0 1 2 2008-02-26 Q8N326 CJ111_HUMAN RPP38-DT Putative uncharacterized protein RPP38-DT 155 17.8 Membrane 1 0 0 5 2 2005-06-21 Q8N412 STPG2_HUMAN STPG2 Sperm-tail PG-rich repeat-containing protein 2 459 50.7 4 0 0 0 1 2 2007-12-04 Q8N5Q1 GAR5B_HUMAN GARIN5B Golgi-associated RAB2 interactor protein 5B 922 99.9 19 0 0 0 1 2 2008-06-10 Q8N769 CN178_HUMAN SLIRP-OT1 Putative uncharacterized protein SLIRP-OT1 122 13.4 14 0 0 0 5 2 2007-02-06 Q8N7Q2 CEAS1_HUMAN CELF2-AS1 Putative uncharacterized protein CELF2-AS1 184 20.5 Secreted 0 0 0 5 2 2006-06-27 Q8N7U9 CQ054_HUMAN LINC00469 Putative uncharacterized protein encoded by LINC00469 141 16 0 0 0 5 2 2007-01-23 Q8N8E1 MAAS1_HUMAN MAPKAPK5-AS1 Putative uncharacterized protein encoded by MAPKAPK5-AS1 139 13.2 0 0 0 5 2 2008-05-20 Q8N8H1 ZN321_HUMAN ZNF321P Putative protein ZNF321 164 19 0 0 0 5 2 2007-07-10 Q8N8J7 F241A_HUMAN FAM241A Uncharacterized protein FAM241A 132 14.7 4 Membrane 1 0 0 1 2 2007-05-15 Q8N8Z3 PRR26_HUMAN DIP2C-AS1 Putative uncharacterized protein DIP2C-AS1 221 24.2 0 0 0 2 2 2006-07-25 Q8N9R0 CP081_HUMAN LINC00304 Putative uncharacterized protein encoded by LINC00304 145 15.6 0 0 0 5 2 2007-07-24 Q8N9T2 CX042_HUMAN NKAPP1 Putative uncharacterized protein CXorf42 125 14.2 0 0 0 5 2 2005-07-05 Q8N9V3 WSDU1_HUMAN WDSUB1 WD repeat, SAM and U-box domain-containing protein 1 476 52.8 2 0 0 0 1 2 2007-02-20 Q8N9Z2 CC71L_HUMAN CCDC71L Coiled-coil domain-containing protein 71L 235 26.3 7 0 0 0 1 2 2008-05-20 Q8NA57 ZC11D_HUMAN ZC3H11D Protein ZC3H11D 414 47.3 12 0 0 0 1 2 2007-07-10 Q8NAP1 CAST3_HUMAN CASTOR3P Putative protein CASTOR3P 163 17.8 7 0 0 0 5 2 2008-03-18 Q8NBT3 TM145_HUMAN TMEM145 Transmembrane protein 145 493 55.5 19 Membrane 8 0 0 1 2 2007-03-20 Q8NBZ9 NEAS1_HUMAN NEXN-AS1 Putative uncharacterized protein NEXN-AS1 246 25.2 0 0 0 5 2 2007-03-20 Q8NC38 CA213_HUMAN ZNF436-AS1 Putative uncharacterized protein ZNF436-AS1 126 14.4 0 0 0 1 2 2007-10-02 Q8NDY4 MDS2_HUMAN MDS2 Myelodysplastic syndrome 2 translocation-associated protein 140 15.4 0 0 0 2 2 2006-10-17 Q8NEA4 FBX36_HUMAN FBXO36 F-box only protein 36 188 22.1 2 0 0 0 1 2 2004-08-16 Q8NEE8 TTC16_HUMAN TTC16 Tetratricopeptide repeat protein 16 873 98.3 9 0 0 0 1 2 2004-09-27 Q8NEG2 CG057_HUMAN C7orf57 Uncharacterized protein C7orf57 295 32.8 7 0 0 0 1 2 2007-11-13 Q8NEQ5 CA162_HUMAN C1orf162 Transmembrane protein C1orf162 155 16.9 1 Membrane 1 0 0 1 2 2007-09-11 Q8NET4 RTL9_HUMAN RTL9 Retrotransposon Gag-like protein 9 1388 144.3 X 0 0 0 1 2 2006-10-31 Q8NI28 R32DT_HUMAN RNF32-DT Putative transmembrane protein RNF32-DT 216 22.3 Cytoplasm; Membrane 1 0 0 5 2 2006-09-05 Q8TBR5 CSAS1_HUMAN CIRBP-AS1 Putative uncharacterized protein CIRBP-AS1 109 12.4 0 0 0 5 2 2005-07-19 Q8TEF2 CJ105_HUMAN C10orf105 Uncharacterized protein C10orf105 133 14.5 10 Membrane 1 0 0 1 2 2008-04-29 Q8WWF8 CAPSL_HUMAN CAPSL Calcyphosin-like protein 208 24.2 5 Cytoplasm 0 0 0 1 2 2006-12-12 Q92623 TTC9A_HUMAN TTC9 Tetratricopeptide repeat protein 9A 222 24.4 14 0 0 0 1 2 2003-11-28 Q969E4 TCAL3_HUMAN TCEAL3 Transcription elongation factor A protein-like 3 200 22.5 X Nucleus 0 0 0 1 2 2006-05-30 Q96AQ2 TM125_HUMAN TMEM125 Transmembrane protein 125 219 22.2 1 Membrane 4 0 0 1 2 2006-10-03 Q96B70 LENG9_HUMAN LENG9 Leukocyte receptor cluster member 9 501 53.2 0 0 0 1 2 2006-12-12 Q96BX8 MOB3A_HUMAN MOB3A MOB kinase activator 3A 217 25.5 19 0 0 0 1 2 2004-12-21 Q96CN7 ISOC1_HUMAN ISOC1 Isochorismatase domain-containing protein 1 298 32.2 5 0 0 0 1 2 2006-12-12 Q96E39 RMXL1_HUMAN RBMXL1 RNA binding motif protein, X-linked-like-1 390 42.1 1 Nucleus 0 0 0 1 2 2011-05-03 Q96HM7 PED1B_HUMAN PCED1B PC-esterase domain-containing protein 1B 432 49.7 12 0 0 0 1 2 2008-04-29 Q96KF7 SMIM8_HUMAN SMIM8 Small integral membrane protein 8 97 11.1 6 Membrane 1 0 0 1 2 2005-07-19 Q96L03 SPT17_HUMAN SPATA17 Spermatogenesis-associated protein 17 361 43.5 1 Cytoplasm 0 0 0 1 2 2006-12-12 Q96LI9 CX058_HUMAN CXorf58 Uncharacterized protein CXorf58 332 38.9 X 0 0 0 1 2 2007-01-09 Q96LP6 CL042_HUMAN C12orf42 Uncharacterized protein C12orf42 360 39.7 12 0 0 0 1 2 2007-02-06 Q96MC9 CA147_HUMAN IKBKE-AS1 Putative uncharacterized protein IKBKE-AS1 270 29.8 0 0 0 5 2 2006-07-25 Q96MW7 TIGD1_HUMAN TIGD1 Tigger transposable element-derived protein 1 591 67.3 2 Nucleus 0 0 0 1 2 2007-01-23 Q96MZ4 F218A_HUMAN FAM218A Protein FAM218A 157 17 4 0 0 0 1 2 2008-06-10 Q96NS1 YPEL4_HUMAN YPEL4 Protein yippee-like 4 127 14.3 11 Nucleus 0 0 0 1 2 2003-01-17 Q96PY0 K1908_HUMAN PSMG3-AS1 Putative uncharacterized protein PSMG3-AS1 264 28.2 0 0 0 5 2 2008-06-10 Q9BQ49 SMIM7_HUMAN SMIM7 Small integral membrane protein 7 75 8.6 19 Membrane 1 0 0 1 2 2007-04-17 Q9BQM9 CT144_HUMAN C20orf144 Uncharacterized protein C20orf144 153 17.2 20 0 0 0 1 2 2002-10-19 Q9BU68 PR15L_HUMAN PRR15L Proline-rich protein 15-like protein 103 11.7 17 0 0 0 1 2 2007-07-10 Q9BVR0 HRC23_HUMAN HERC2P3 Putative HERC2-like protein 3 1158 128.9 0 0 0 5 2 2008-09-02 Q9BXU2 TX13B_HUMAN TEX13B Testis-expressed protein 13B 312 34 X 0 0 0 1 2 2004-07-19 Q9C073 F117A_HUMAN FAM117A Protein FAM117A 453 48.3 17 0 0 0 1 2 2006-12-12 Q9H0H9 C4F30_HUMAN CYP4F30P Putative cytochrome P450 family member 4F30 118 12.4 0 0 0 5 2 2005-08-30 Q9H7B7 CG069_HUMAN PKD1L1-AS1 Putative uncharacterized protein PKD1L1-AS1 122 14.4 Secreted 0 0 0 5 2 2008-06-10 Q9H7M6 ZSWM4_HUMAN ZSWIM4 Zinc finger SWIM domain-containing protein 4 989 110.1 19 0 0 0 1 2 2004-01-16 Q9H8W2 CF155_HUMAN LINC00472 Putative uncharacterized protein encoded by LINC00472 130 13.9 0 0 0 5 2 2005-07-05 Q9HC47 CTGE1_HUMAN CTAGE1 Cutaneous T-cell lymphoma-associated antigen 1 74 8.4 18 Membrane 2 0 0 2 2 2005-01-04 Q9NRI6 PYY2_HUMAN PYY2 Putative peptide YY-2 33 3.4 Secreted 0 0 0 5 2 2008-09-02 Q9NSQ0 RRP7B_HUMAN RRP7BP Putative ribosomal RNA-processing protein 7 homolog B 103 12.6 0 0 0 5 2 2008-05-20 Q9NUJ7 PLCX1_HUMAN PLCXD1 PI-PLC X domain-containing protein 1 323 36.7 X Cytoplasm 0 0 0 1 2 2007-09-11 Q9NUR3 TM74B_HUMAN TMEM74B Transmembrane protein 74B 256 27.6 20 Membrane 2 0 0 1 2 2003-01-10 Q9NVV2 CS073_HUMAN C19orf73 Putative uncharacterized protein C19orf73 129 13.8 19 0 0 0 1 2 2008-09-02 Q9UBP8 KAAG1_HUMAN KAAG1 Kidney-associated antigen 1 84 9 6 0 0 0 1 2 2007-02-06 Q9UH64 NSGX_HUMAN CDKN2A-AS1 Putative uncharacterized protein CDKN2A-AS1 79 8.9 0 0 0 5 2 2000-12-01 Q9UHQ7 TCAL9_HUMAN TCEAL9 Transcription elongation factor A protein-like 9 104 12.7 X Nucleus 0 0 0 1 2 2007-01-23 Q9ULE4 F184B_HUMAN FAM184B Protein FAM184B 1060 121 4 0 0 0 1 2 2008-02-26 Q9ULG3 CFA92_HUMAN CFAP92 Uncharacterized protein CFAP92 409 46.7 3 0 0 0 1 2 2008-02-26 Q9ULN7 PNM8B_HUMAN PNMA8B Paraneoplastic antigen-like protein 8B 635 68.6 19 0 0 0 1 2 2008-03-18 Q9Y3P4 RHBD3_HUMAN RHBDD3 Rhomboid domain-containing protein 3 386 40.5 22 Membrane 5 0 0 1 2 2002-04-16 Q9Y4M8 CH071_HUMAN LINC00588 Putative uncharacterized protein encoded by LINC00588 146 16 0 0 0 5 2 2007-01-09 Q9Y675 SNURF_HUMAN SNURF SNRPN upstream reading frame protein 71 8.4 15 Nucleus 0 0 0 1 2 2008-02-26 Q9Y6J3 SMA5O_HUMAN SMAD5-AS1 SMAD5 antisense gene protein 1 95 10.3 0 0 0 2 2 2000-12-01 Q9Y6R6 Z780B_HUMAN ZNF780B Zinc finger protein 780B 833 96.8 19 Nucleus 0 0 0 1 2 2006-12-12 X6R8R1 ST15B_HUMAN SYT15B Synaptotagmin-15B 474 52.2 10 0 0 0 3 2 2022-05-25 A0A087WUL8 NBPFJ_HUMAN NBPF19 NBPF family member NBPF19 3843 440.4 1 Cytoplasm 0 0 0 1 2 2016-02-17 A0A087WWS6 IFNAD_HUMAN IFNA13 Interferon alpha-13 190 21.8 9 Secreted 0 0 0 2 2 2026-01-28 A0A096LNP1 D131B_HUMAN DEFB131B Beta-defensin 131B 70 8.2 11 Secreted 0 0 0 3 2 2017-08-30 A0A0A0MT78 TJB27_HUMAN TRBJ2-7 T cell receptor beta joining 2-7 15 1.7 7 Cell membrane 0 0 0 4 2 2019-05-08 A0A0A0MTA7 TJB21_HUMAN TRBJ2-1 T cell receptor beta joining 2-1 16 1.8 7 Cell membrane 0 0 0 4 2 2019-05-08 A0A0J9YX57 MAB6B_HUMAN MAGEB6B Melanoma-associated antigen B6B 407 44.3 X 0 0 0 1 2 2023-02-22 A0A0U1RR11 CENL1_HUMAN CENPVL1 Centromere protein V-like protein 1 272 29.9 X 0 0 0 2 2 2018-07-18 A0A0U1RRK4 LBHD2_HUMAN LBHD2 LBH domain-containing protein 2 108 10.7 14 0 0 0 1 2 2018-06-20 A0A0X1KG70 ORM2B_HUMAN OR4M2B Olfactory receptor 4M2B 313 35.4 15 Membrane 7 0 0 3 2 2020-12-02 A0A1B0GTR3 CX05A_HUMAN CXorf51A Uncharacterized protein CXorf51A 108 12 X 0 0 0 4 2 2018-07-18 A0A1B0GTU1 ZC11B_HUMAN ZC3H11B Zinc finger CCCH domain-containing protein 11B 805 88.9 1 0 0 0 1 2 2018-06-20 A0A1B0GUI7 BRDOS_HUMAN BRD3OS Uncharacterized protein BRD3OS 84 9.7 9 0 0 0 1 2 2018-06-20 A0A1B0GUV7 TEX48_HUMAN TEX48 Testis-expressed protein 48 120 13.9 9 0 0 0 1 2 2017-06-07 A0A1B0GUX0 SMIP1_HUMAN SPMIP1 Protein SPMIP1 176 20.4 7 0 0 0 1 2 2018-09-12 A0A1B0GV03 GG6L7_HUMAN GOLGA6L7 Golgin subfamily A member 6-like protein 7 622 75.6 15 0 0 0 1 2 2018-02-28 A0A1B0GVH7 IQCM_HUMAN IQCM IQ domain-containing protein M 501 59.6 4 0 0 0 4 2 2017-09-27 A0A1B0GVS7 MDFI2_HUMAN MDFIC2 MyoD family inhibitor domain-containing protein 2 189 21.5 3 0 0 0 2 2 2017-09-27 A0A1B0GVZ6 MB3LB_HUMAN MBD3L2B Methyl-CpG-binding domain protein 3-like 2B 204 22.7 19 0 0 0 3 2 2017-09-27 A0A1W2PPE2 TFKL4_HUMAN TAF11L4 TATA-box-binding protein-associated factor 11-like protein 4 198 21.7 5 0 0 0 2 2 2022-08-03 A0A1W2PQ09 TFKLK_HUMAN TAF11L11 TATA-box-binding protein-associated factor 11-like protein 11 198 22.2 5 0 0 0 1 2 2022-08-03 A0A1W2PQ73 ERFL_HUMAN ERFL ETS domain-containing transcription factor ERF-like 354 37.8 19 Nucleus 0 0 0 3 2 2019-10-16 A0A1W2PRP0 FOXL3_HUMAN FOXL3 Forkhead box protein L3 233 26 7 Nucleus 0 0 0 3 2 2020-06-17 A0A286YF46 SCGR5_HUMAN SCYGR5 Small cysteine and glycine repeat-containing protein 5 85 8.2 2 0 0 0 1 2 2018-10-10 A0A286YF60 SCGR3_HUMAN SCYGR3 Small cysteine and glycine repeat-containing protein 3 100 9.5 2 0 0 0 1 2 2018-10-10 A0A286YF77 SCGR6_HUMAN SCYGR6 Small cysteine and glycine repeat-containing protein 6 105 9.9 2 0 0 0 1 2 2018-10-10 A0A2R8Y7Y5 CIST1_HUMAN CIST1 Protein CIST1 234 24.7 19 Membrane 1 0 0 3 2 2023-06-28 A0A3G1DJQ2 SHLP3_HUMAN MT-RNR2 Small humanin-like peptide 3 38 4.4 MT 0 0 0 4 2 2026-01-28 A0A494C103 SPADH_HUMAN SPADH CUB domain-containing protein 137 15.3 10 0 0 0 1 2 2023-02-22 A0A494C191 SPD9_HUMAN SPDYE9 Speedy protein E9 265 31.4 7 0 0 0 3 2 2020-12-02 A0A5F9ZHS7 NFILZ_HUMAN NFILZ NFIL3 like protein 289 31 19 Nucleus 0 0 0 1 2 2020-06-17 A0A7I2V3R4 RN228_HUMAN RNF228 RING finger protein 228 345 34.7 2 Membrane 2 0 0 1 2 2024-05-29 A0A8V8TPE2 F90A3_HUMAN FAM90A3 Protein FAM90A3 464 49.8 8 0 0 0 1 2 2024-01-24 A2A2Z9 AN18B_HUMAN ANKRD18B Ankyrin repeat domain-containing protein 18B 1011 118.2 9 0 0 0 1 2 2008-02-05 A3QJZ6 PRA22_HUMAN PRAMEF22 PRAME family member 22 481 55.5 0 0 0 3 2 2008-05-20 A3QJZ7 PRA27_HUMAN PRAMEF27 PRAME family member 27 478 55.2 1 0 0 0 3 2 2016-01-20 A4FU28 CTGE9_HUMAN CTAGE9 cTAGE family member 9 777 88 6 Membrane 1 0 0 1 2 2010-07-13 A6NCI8 CB078_HUMAN C2orf78 Uncharacterized protein C2orf78 922 100.2 2 0 0 0 2 2 2008-02-26 A6NCJ1 TKTI1_HUMAN TEKTIP1 Tektin bundle-interacting protein 1 209 24.2 19 Cytoplasm 0 0 0 1 2 2008-04-29 A6NCK2 TR43B_HUMAN TRIM43B Tripartite motif-containing protein 43B 446 52.3 2 0 0 0 1 2 2008-02-26 A6NEN9 CX065_HUMAN CXorf65 Uncharacterized protein CXorf65 183 21.3 X 0 0 0 1 2 2008-09-02 A6NFA0 S31F3_HUMAN SPATA31F3 Protein SPATA31F3 338 37.6 9 Membrane 1 0 0 1 2 2008-02-26 A6NFU8 PGPIL_HUMAN PGPEP1L Pyroglutamyl-peptidase 1-like protein 196 21.6 15 3.4.19.- 0 0 0 2 2 2008-05-20 A6NGB7 TM221_HUMAN TMEM221 Transmembrane protein 221 291 30.3 19 Membrane 4 0 0 1 2 2008-04-29 A6NGW2 STRCL_HUMAN STRCP1 Putative stereocilin-like protein 1772 192.4 Secreted 0 0 0 5 2 2008-06-10 A6NH11 GLTD2_HUMAN GLTPD2 Glycolipid transfer protein domain-containing protein 2 291 31.6 17 0 0 0 1 2 2008-02-05 A6NH13 DAS1_HUMAN DNAJC9-AS1 Putative uncharacterized protein DNAJC9-AS1 148 15.6 0 0 0 1 2 2008-03-18 A6NI03 TR64B_HUMAN TRIM64B Tripartite motif-containing protein 64B 449 51.6 11 0 0 0 1 2 2008-06-10 A6NI86 GG6LA_HUMAN GOLGA6L10 Golgin subfamily A member 6-like protein 10 522 60.9 15 0 0 0 3 2 2008-07-01 A6NIJ5 F90AK_HUMAN FAM90A20 Protein FAM90A20 464 50 8 0 0 0 1 2 2007-09-11 A6NIV6 LRIQ4_HUMAN LRRIQ4 Leucine-rich repeat and IQ domain-containing protein 4 560 64 3 0 0 0 1 2 2008-04-29 A6NJ08 MB3L5_HUMAN MBD3L5 Methyl-CpG-binding domain protein 3-like 5 208 23 19 0 0 0 3 2 2008-09-02 A6NJG2 SWAHD_HUMAN SOWAHD Ankyrin repeat domain-containing protein SOWAHD 315 33.8 X 0 0 0 1 2 2008-01-15 A6NJQ4 F90A8_HUMAN FAM90A8 Protein FAM90A8 464 49.7 8 0 0 0 3 2 2007-09-11 A6NKU9 SPDE3_HUMAN SPDYE3 Speedy protein E3 549 63.9 7 0 0 0 1 2 2008-07-01 A6NLC8 TFKL2_HUMAN TAF11L2 TATA-box binding protein associated factor 11 like protein 2 198 22 5 0 0 0 2 2 2008-04-29 A6NMD2 GOG8J_HUMAN GOLGA8J Golgin subfamily A member 8J 632 71.8 15 0 0 0 3 2 2008-04-29 A6NMK8 INY2B_HUMAN INSYN2B Protein INSYN2B 535 59.2 5 0 0 0 1 2 2008-09-02 A6NNC1 P12LL_HUMAN Putative POM121-like protein 1-like 897 94.1 Membrane 1 0 0 5 2 2008-09-02 A6NNJ1 F90A9_HUMAN FAM90A9 Protein FAM90A9 464 49.7 8 0 0 0 3 2 2007-09-11 A8MSI8 LYRM9_HUMAN LYRM9 LYR motif-containing protein 9 78 9.4 17 0 0 0 1 2 2008-07-22 A8MTW9 YB043_HUMAN Putative uncharacterized protein ENSP00000380674 85 8.8 Secreted 0 0 0 5 2 2008-06-10 A8MTY0 ZN724_HUMAN ZNF724 Zinc finger protein 724 619 71.2 19 Nucleus 0 0 0 1 2 2008-04-29 A8MUX0 KR161_HUMAN KRTAP16-1 Keratin-associated protein 16-1 517 53.9 17 0 0 0 1 2 2008-09-02 A8MV57 MPTX_HUMAN MPTX1 Putative mucosal pentraxin homolog 137 15.1 0 0 0 5 2 2008-07-01 A8MVX0 ARG33_HUMAN ARHGEF33 Rho guanine nucleotide exchange factor 33 844 94.6 2 0 0 0 1 2 2008-07-01 A8MWL7 TM14D_HUMAN TMEM14DP Transmembrane protein 14DP 114 12.2 Membrane 4 0 0 5 2 2008-07-22 A8MYA2 CX049_HUMAN CXorf49 Uncharacterized protein CXorf49 514 54.4 X 0 0 0 1 2 2008-07-22 A8MYB1 TMC5B_HUMAN TMCO5B Transmembrane and coiled-coil domain-containing protein 5B 307 35.8 Membrane 1 0 0 3 2 2008-06-10 B1ATL7 PRR32_HUMAN PRR32 Proline-rich protein 32 298 31.9 X 0 0 0 1 2 2008-05-20 B3GLJ2 PATE3_HUMAN PATE3 Prostate and testis expressed protein 3 98 11.7 11 Secreted 0 0 0 1 2 2008-11-25 B4DYI2 S31C2_HUMAN SPATA31C2 Spermatogenesis-associated protein 31C2 1134 124.4 9 Membrane 1 0 0 1 2 2013-01-09 B7Z6K7 ZN814_HUMAN ZNF814 Zinc finger protein 814 855 97.3 19 0 0 0 1 2 2010-06-15 B7ZW38 HNRC3_HUMAN HNRNPCL3 Heterogeneous nuclear ribonucleoprotein C-like 3 293 32 1 Nucleus 0 0 0 2 2 2014-11-26 C9J202 AG1L2_HUMAN ALG1L2 Putative glycosyltransferase ALG1L2 215 24.2 3 2.4.1.- 0 0 0 3 2 2010-05-18 C9J7I0 UMAD1_HUMAN UMAD1 UBAP1-MVB12-associated (UMA)-domain containing protein 1 137 15.2 7 0 0 0 1 2 2014-11-26 C9JL84 HHLA1_HUMAN HHLA1 HERV-H LTR-associating protein 1 531 58.3 8 Secreted 0 0 0 2 2 2010-05-18 C9JQI7 TM232_HUMAN TMEM232 Transmembrane protein 232 657 76.5 5 Membrane 2 0 0 1 2 2010-06-15 D3DTV9 PRAC2_HUMAN PRAC2 Protein PRAC2 90 10.4 17 Nucleus 0 0 0 2 2 2014-11-26 D6REC4 CFA99_HUMAN CFAP99 Cilia- and flagella-associated protein 99 646 74.9 4 Cell projection 0 0 0 1 2 2014-11-26 E5RIL1 UPKL2_HUMAN UPK3BL2 Uroplakin-3b-like protein 2 263 28.4 7 Membrane 1 0 0 3 2 2017-09-27 E5RJM6 ANR65_HUMAN ANKRD65 Ankyrin repeat domain-containing protein 65 399 41.5 1 0 0 0 1 2 2011-12-14 E7EW31 PROB1_HUMAN PROB1 Proline-rich basic protein 1 1015 106.9 5 0 0 0 1 2 2011-10-19 F2Z333 FND10_HUMAN FNDC10 Fibronectin type III domain-containing protein 10 226 24.2 1 Membrane 1 0 0 1 2 2012-03-21 F8W1W9 NPIB9_HUMAN NPIPB9 Nuclear pore complex-interacting protein family member B9 432 49.7 16 0 0 0 3 2 2013-10-16 H3BPF8 GOG8S_HUMAN GOLGA8S Golgin subfamily A member 8S 638 71.9 15 0 0 0 3 2 2018-07-18 H3BPM6 MKROS_HUMAN MKRN2OS MKRN2 opposite strand protein 223 25.5 3 0 0 0 1 2 2013-03-06 H3BQJ8 LY6L_HUMAN LY6L Lymphocyte antigen 6L 138 15.3 8 Cell membrane 0 0 0 3 2 2016-11-02 H3BQL2 GOG8T_HUMAN GOLGA8T Golgin subfamily A member 8T 631 71.6 15 0 0 0 3 2 2018-07-18 H3BR10 SMLR1_HUMAN SMLR1 Small leucine-rich protein 1 107 12.3 6 Membrane 2 0 0 1 2 2013-03-06 H3BV12 GOG8Q_HUMAN GOLGA8Q Golgin subfamily A member 8Q 632 71.6 15 0 0 0 3 2 2018-07-18 H7C241 CLD34_HUMAN CLDN34 Claudin-34 214 24.2 X Cell junction; Cell membrane 4 0 0 3 2 2015-06-24 I1YAP6 TRI77_HUMAN TRIM77 Tripartite motif-containing protein 77 450 52.5 11 0 0 0 2 2 2013-03-06 M0QZC1 RN225_HUMAN RNF225 RING finger protein 225 329 34.8 19 Membrane 1 0 0 1 2 2014-11-26 O14609 XKRY_HUMAN XKRY Testis-specific XK-related protein, Y-linked 159 18.1 Membrane 3 0 0 2 2 1999-07-15 O15172 PSPHL_HUMAN PSPHP1 Putative phosphoserine phosphatase-like protein 72 7.8 0 0 0 5 2 2008-02-05 O75200 NPIB7_HUMAN NPIPB7 Nuclear pore complex-interacting protein family member B7 414 47.7 16 Secreted 0 0 0 3 2 2008-03-18 O95473 SNG4_HUMAN SYNGR4 Synaptogyrin-4 234 25.8 19 Membrane 4 0 0 1 2 2000-05-30 O95567 CV031_HUMAN C22orf31 Uncharacterized protein C22orf31 290 32.7 22 0 0 0 1 2 2006-10-31 O95873 CF047_HUMAN C6orf47 Uncharacterized protein C6orf47 294 31.7 6 0 0 0 1 2 2005-07-19 O96002 CX001_HUMAN CXorf1 Putative transmembrane protein CXorf1 111 13.5 Membrane 2 0 0 5 2 2000-05-30 P0C221 CC175_HUMAN CCDC175 Coiled-coil domain-containing protein 175 793 93.6 14 0 0 0 1 2 2006-11-14 P0C2S0 CTXN2_HUMAN CTXN2 Cortexin-2 81 9 15 Membrane 1 0 0 3 2 2007-04-17 P0C7V0 CF217_HUMAN AHI1-DT Putative uncharacterized protein encoded by LINC00271 271 29.1 0 0 0 5 2 2008-07-22 P0C7V4 F90AF_HUMAN FAM90A15 Protein FAM90A15 464 49.9 8 0 0 0 1 2 2008-07-22 P0CAT3 TLXNB_HUMAN TLX1NB Putative TLX1 neighbor protein 122 13.4 0 0 0 5 2 2009-06-16 P0CF97 ZBD11_HUMAN ZBED11 Protein ZBED11 657 76 4 0 0 0 1 2 2010-05-18 P0CG23 ZN853_HUMAN ZNF853 Zinc finger protein 853 659 74.9 7 0 0 0 1 2 2010-06-15 P0CG32 ZCC18_HUMAN ZCCHC18 Zinc finger CCHC domain-containing protein 18 403 45.2 X 0 0 0 1 2 2010-07-13 P0CG41 CTGE8_HUMAN CTAGE8 cTAGE family member 8 777 88.1 7 Membrane 1 0 0 3 2 2010-07-13 P0CI00 Z705B_HUMAN ZNF705B Zinc finger protein 705B 300 34.7 8 Nucleus 0 0 0 2 2 2010-10-05 P0CI01 SPDE6_HUMAN SPDYE6 Speedy protein E6 402 48.3 7 0 0 0 1 2 2010-10-05 P0CJ77 HMN10_HUMAN MTRNR2L10 Humanin-like 10 24 2.8 X Secreted; Cytoplasm 0 0 0 2 2 2011-02-08 P0CL80 GG12F_HUMAN GAGE12F G antigen 12F 117 13 X 0 0 0 3 2 2011-05-03 P0CL83 ST3L1_HUMAN STAG3L1 Putative STAG3-like protein 1 205 23.8 Nucleus 0 0 0 5 2 2011-05-03 P0CL84 ST3L2_HUMAN STAG3L2 Putative STAG3-like protein 2 134 15.6 Nucleus 0 0 0 5 2 2011-05-03 P0CW27 CC166_HUMAN CCDC166 Coiled-coil domain-containing protein 166 439 48.7 8 0 0 0 1 2 2011-09-21 P0DKV0 S31C1_HUMAN SPATA31C1 Spermatogenesis-associated protein 31C1 1188 130.5 9 Membrane 1 0 0 1 2 2013-02-06 P0DMP1 HMN12_HUMAN MTRNR2L12 Humanin-like 12 24 2.7 3 Secreted; Cytoplasm 0 0 0 3 2 2014-10-01 P0DMR1 HNRC4_HUMAN HNRNPCL4 Heterogeneous nuclear ribonucleoprotein C-like 4 293 32 1 Nucleus 0 0 0 3 2 2014-11-26 P0DMU7 CT456_HUMAN CT45A6 Cancer/testis antigen family 45 member A6 189 21.2 X 0 0 0 2 2 2015-05-27 P0DMU8 CT455_HUMAN CT45A5 Cancer/testis antigen family 45 member A5 189 21.2 X Nucleus 0 0 0 2 2 2015-05-27 P0DPD5 ZN723_HUMAN ZNF723 Zinc finger protein 723 513 59.2 19 Nucleus 0 0 0 3 2 2018-01-31 P0DPQ3 PR20G_HUMAN PRR20G Proline-rich protein 20G 210 21.9 3 0 0 0 1 2 2018-10-10 P0DSN6 T2R33_HUMAN TAS2R33 Putative taste receptor type 2 member 33 309 35.4 Membrane 7 0 0 5 2 2020-08-12 P0DTL4 LY6S_HUMAN LY6S Lymphocyte antigen 6S 134 14.2 8 Cell membrane 0 0 0 3 2 2022-10-12 P0DUD2 SPD17_HUMAN SPDYE17 Speedy protein E17 265 31.4 7 0 0 0 3 2 2020-12-02 P0DUD3 SPD14_HUMAN SPDYE14 Speedy protein E14 265 31.5 7 0 0 0 3 2 2020-12-02 P0DV75 F90AI_HUMAN FAM90A18 Protein FAM90A18 464 49.7 8 0 0 0 3 2 2022-05-25 P0DV76 F90AJ_HUMAN FAM90A19 Protein FAM90A19 464 49.7 8 0 0 0 3 2 2022-05-25 P0DW11 TFKL6_HUMAN TAF11L6 TATA-box-binding protein-associated factor 11-like protein 6 198 21.6 5 0 0 0 2 2 2022-08-03 P0DY27 D109C_HUMAN DEFB109C Beta-defensin 109C 87 9.9 8 Secreted 0 0 0 3 2 2025-04-09 P58505 CU058_HUMAN C21orf58 Uncharacterized protein C21orf58 322 35 21 0 0 0 1 2 2001-12-19 P58512 CU067_HUMAN LINC01547 Uncharacterized protein encoded by LINC01547 204 21.3 0 0 0 2 2 2002-01-23 P59037 CU084_HUMAN LINC00313 Putative uncharacterized protein encoded by LINC00313 77 8.5 0 0 0 5 2 2002-10-19 P59052 B3AS1_HUMAN B3GALT5-AS1 Putative uncharacterized protein B3GALT5-AS1 145 15.7 0 0 0 5 2 2002-10-19 P61568 ENK11_HUMAN ERVK11-1 Putative endogenous retrovirus group K member 11-1 Env polyprotein 191 21.5 Virion 0 0 0 5 2 2004-05-24 P61572 REC19_HUMAN ERVK-19 Endogenous retrovirus group K member 19 Rec protein 105 11.8 Cytoplasm; Nucleus 0 0 0 1 2 2004-05-24 P61574 RE113_HUMAN HERVK_113 Endogenous retrovirus group K member 113 Rec protein 105 11.8 Cytoplasm; Nucleus 0 0 0 1 2 2004-05-24 P61578 REC16_HUMAN ERVK-16 Endogenous retrovirus group K member 16 Rec protein 105 11.8 Cytoplasm; Nucleus 0 0 0 1 2 2004-05-24 P86496 PR20A_HUMAN PRR20A Proline-rich protein 20A 221 23.3 13 0 0 0 2 2 2010-04-20 Q0P6H9 TMM62_HUMAN TMEM62 Transmembrane protein 62 643 73.1 15 Membrane 6 0 0 1 2 2006-10-31 Q0VAA2 LR74A_HUMAN LRRC74A Leucine-rich repeat-containing protein 74A 488 54.5 14 0 0 0 1 2 2007-10-02 Q0VG73 RDUR_HUMAN RDUR Putative protein RDUR 95 10.8 0 0 0 5 2 2008-06-10 Q12766 HMGX3_HUMAN HMGXB3 HMG domain-containing protein 3 1292 141.1 5 Nucleus 0 0 0 1 2 1997-11-01 Q13070 GAGE6_HUMAN GAGE6 G antigen 6 117 12.9 0 0 0 1 2 1998-07-15 Q15195 PLGA_HUMAN PLGLA Plasminogen-like protein A 96 10.9 Secreted 0 0 0 2 2 2007-10-02 Q15846 CLUL1_HUMAN CLUL1 Clusterin-like protein 1 466 54.2 18 Secreted 0 0 0 1 2 2005-05-10 Q15940 ZNF67_HUMAN ZNF726P1 Putative zinc finger protein 726P1 193 23 0 0 0 5 2 2008-06-10 Q16473 TENXA_HUMAN TNXA Putative tenascin-XA 311 33.7 0 0 0 5 2 2008-09-02 Q1T7F1 CCB42_HUMAN Putative chemokine-related protein B42 81 8.8 Cytoplasm 0 0 0 5 2 2013-05-01 Q2M3A8 MRAS1_HUMAN MRGPRG-AS1 Putative uncharacterized protein MRGPRG-AS1 158 16.5 0 0 0 5 2 2006-10-03 Q32M84 BTBDG_HUMAN BTBD16 BTB/POZ domain-containing protein 16 506 58.5 10 0 0 0 1 2 2006-07-25 Q32M92 CO032_HUMAN C15orf32 Uncharacterized protein C15orf32 178 20.3 0 0 0 1 2 2006-06-27 Q3B7S5 SMI21_HUMAN SMIM21 Small integral membrane protein 21 101 11.7 18 Membrane 1 0 0 1 2 2008-06-10 Q3LI58 KR211_HUMAN KRTAP21-1 Keratin-associated protein 21-1 79 7.9 21 0 0 0 3 2 2006-02-21 Q3LI62 KR204_HUMAN KRTAP20-4 Putative keratin-associated protein 20-4 44 4.6 21 0 0 0 3 2 2007-10-23 Q3MIP1 IPIL2_HUMAN ITPRIPL2 Inositol 1,4,5-trisphosphate receptor-interacting protein-like 2 535 58.4 16 Membrane 1 0 0 1 2 2008-05-20 Q3MJ40 C144B_HUMAN CCDC144BP Putative coiled-coil domain-containing protein 144B 725 83 0 0 0 5 2 2007-12-04 Q3SYA9 P12L1_HUMAN POM121L1P Putative POM121-like protein 1 428 45.4 0 0 0 5 2 2007-06-26 Q3ZCV2 CMAP2_HUMAN CIMAP2 Ciliary microtubule-associated protein 2 418 47.6 1 0 0 0 1 2 2007-08-21 Q495Y8 SPDE2_HUMAN SPDYE2 Speedy protein E2 402 48.3 7 0 0 0 1 2 2008-04-29 Q4G0G5 SC2B2_HUMAN SCGB2B2 Secretoglobin family 2B member 2 96 10.6 19 Secreted 0 0 0 1 2 2008-07-01 Q4G0N0 GGTA1_HUMAN GGTA1 Inactive N-acetyllactosaminide alpha-1,3-galactosyltransferase 100 11.6 9 Golgi apparatus 1 0 0 1 2 2008-05-20 Q4W5G0 TIGD2_HUMAN TIGD2 Tigger transposable element-derived protein 2 525 59.6 4 Nucleus 0 0 0 1 2 2007-01-09 Q53SZ7 PRR30_HUMAN PRR30 Proline-rich protein 30 412 44.7 2 0 0 0 1 2 2007-12-04 Q569G3 CE047_HUMAN C5orf47 Uncharacterized protein C5orf47 176 19.2 5 0 0 0 1 2 2008-02-26 Q5H9J9 T11X2_HUMAN TCP11X2 T-complex protein 11-like X-linked protein 2 502 56.9 X 0 0 0 3 2 2013-10-16 Q5HYC2 BRD10_HUMAN BRD10 Uncharacterized bromodomain-containing protein 10 2103 228.1 9 Nucleus 0 0 0 1 2 2007-05-29 Q5JWF8 ACL10_HUMAN ACTL10 Actin-like protein 10 245 26.8 20 0 0 0 1 2 2006-04-18 Q5K131 CLLU1_HUMAN CLLU1 Chronic lymphocytic leukemia up-regulated protein 1 121 14.2 Cytoplasm 0 0 0 2 2 2007-08-21 Q5R3I4 TTC38_HUMAN TTC38 Tetratricopeptide repeat protein 38 469 52.8 22 0 0 0 1 2 2008-02-26 Q5SQS8 CJ120_HUMAN C10orf120 Uncharacterized protein C10orf120 335 39.3 10 0 0 0 1 2 2006-06-27 Q5SR53 CA200_HUMAN PIK3CD-AS1 Putative uncharacterized protein PIK3CD-AS1 167 18.2 0 0 0 5 2 2008-07-01 Q5SRD1 TI23B_HUMAN TIMM23B Mitochondrial import inner membrane translocase subunit Tim23B 188 19.7 10 Mitochondrion inner membrane 2 0 0 1 2 2008-09-02 Q5T5M9 CCNJ_HUMAN CCNJ Cyclin-J 372 42.6 10 0 0 0 1 2 2007-11-13 Q5T6R2 TPT2L_HUMAN TPTE2P1 Putative phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2P1 138 15.5 0 0 0 5 2 2008-05-20 Q5T750 KPLCE_HUMAN KPLCE Protein KPLCE 250 26.2 1 0 0 0 1 2 2007-10-23 Q5TAA0 TTC22_HUMAN TTC22 Tetratricopeptide repeat protein 22 569 63.4 1 0 0 0 1 2 2006-12-12 Q5TC04 ATAS1_HUMAN ATP1A1-AS1 Putative uncharacterized protein ATP1A1-AS1 95 10.2 0 0 0 5 2 2011-03-08 Q5TC84 OGRL1_HUMAN OGFRL1 Opioid growth factor receptor-like protein 1 451 51.3 6 0 0 0 1 2 2008-01-15 Q5TG53 SEAS1_HUMAN SERTAD4-AS1 Putative uncharacterized protein SERTAD4-AS1 156 16.2 0 0 0 5 2 2008-09-02 Q5VWM3 PRA18_HUMAN PRAMEF18 PRAME family member 18 479 55.3 1 0 0 0 3 2 2007-06-12 Q5VWM6 PRA13_HUMAN PRAMEF13 PRAME family member 13 474 54.9 1 0 0 0 3 2 2007-06-12 Q5VXD3 SAM13_HUMAN SAMD13 Sterile alpha motif domain-containing protein 13 122 13.6 1 0 0 0 1 2 2007-03-06 Q5VZ18 SHE_HUMAN SHE SH2 domain-containing adapter protein E 495 54 1 0 0 0 1 2 2006-07-25 Q5YKI7 GGNB1_HUMAN GGNBP1 Putative gametogenetin-binding protein 1 109 12.3 Cytoplasm; Membrane; Golgi apparatus 0 0 0 5 2 2006-06-13 Q68CR7 LRC66_HUMAN LRRC66 Leucine-rich repeat-containing protein 66 880 97.8 4 Membrane 2 0 0 1 2 2008-04-08 Q68DL7 CR063_HUMAN C18orf63 Uncharacterized protein C18orf63 685 77.2 18 0 0 0 1 2 2008-09-02 Q6DCA0 AMERL_HUMAN AMMECR1L AMMECR1-like protein 310 34.5 2 0 0 0 1 2 2007-02-20 Q6ICI0 LHPL7_HUMAN LHFPL7 LHFPL tetraspan subfamily member 7 protein 200 21.7 22 Membrane 4 0 0 2 2 2008-05-20 Q6JVE5 LCN12_HUMAN LCN12 Epididymal-specific lipocalin-12 192 21.5 9 Secreted 0 0 0 2 2 2005-03-29 Q6NT46 GAG2A_HUMAN GAGE2A G antigen 2A 116 12.8 X 0 0 0 1 2 2010-07-13 Q6NV74 CRCDL_HUMAN CRACDL CRACD-like protein 962 102.2 2 0 0 0 1 2 2007-05-29 Q6NXN4 D19P1_HUMAN DPY19L2P1 Putative C-mannosyltransferase DPY19L2P1 242 28 2.4.1.- Membrane 3 0 0 1 2 2007-12-04 Q6P0A1 F180B_HUMAN FAM180B Protein FAM180B 183 20.3 11 Secreted 0 0 0 1 2 2008-09-02 Q6P1M9 ARMX5_HUMAN ARMCX5 Armadillo repeat-containing X-linked protein 5 558 62.3 X 0 0 0 1 2 2005-12-20 Q6P1R3 MSD2_HUMAN MSANTD2 Myb/SANT-like DNA-binding domain-containing protein 2 559 61.3 11 0 0 0 1 2 2007-02-06 Q6P2C0 WDR93_HUMAN WDR93 WD repeat-containing protein 93 686 77.4 15 0 0 0 1 2 2008-02-26 Q6P2I7 EBLN2_HUMAN EBLN2 Endogenous Bornavirus-like nucleoprotein 2 272 30.5 3 0 0 0 2 2 2008-12-16 Q6P3X3 TTC27_HUMAN TTC27 Tetratricopeptide repeat protein 27 843 96.6 2 0 0 0 1 2 2007-07-10 Q6UDR6 SPIT4_HUMAN SPINT4 Kunitz-type protease inhibitor 4 99 11.4 20 Secreted 0 0 0 1 2 2007-10-23 Q6UXB0 F131A_HUMAN FAM131A Protein FAM131A 366 39.5 3 0 0 0 1 2 2006-06-27 Q6UXP7 F151B_HUMAN FAM151B Protein FAM151B 276 31.4 5 0 0 0 1 2 2008-02-05 Q6XLA1 CSC2A_HUMAN CASC2 Protein CASC2, isoform 3 102 11.9 0 0 0 2 2 2008-03-18 Q6ZMT9 DTHD1_HUMAN DTHD1 Death domain-containing protein 1 781 88.3 4 0 0 0 1 2 2008-09-02 Q6ZN08 ZNF66_HUMAN ZNF66 Zinc finger protein 66 573 65.9 19 Nucleus 0 0 0 1 2 2007-10-02 Q6ZNQ3 LRC69_HUMAN LRRC69 Leucine-rich repeat-containing protein 69 347 39.6 8 0 0 0 1 2 2008-05-20 Q6ZP68 ATPUN_HUMAN ATP11AUN Putative protein ATP11AUN 121 13.4 0 0 0 2 2 2008-07-01 Q6ZSC3 RBM43_HUMAN RBM43 RNA-binding protein 43 357 40.7 2 0 0 0 1 2 2006-12-12 Q6ZTB9 ZN833_HUMAN ZNF833P Putative zinc finger protein 833 187 21.7 0 0 0 5 2 2008-03-18 Q6ZTK2 APLTP_HUMAN APOLTP Protein APOLTP 3320 363.3 16 Secreted 0 0 0 1 2 2008-02-26 Q6ZU45 CL20A_HUMAN CLEC20A Putative C-type lectin domain family 20 member A 400 44.3 1 0 0 0 2 2 2008-04-29 Q6ZUL3 CH086_HUMAN LINC03042 Uncharacterized protein LINC03042 223 24.7 8 0 0 0 2 2 2008-09-02 Q6ZUU3 FOXNB_HUMAN FOXL2NB FOXL2 neighbor protein 175 18.6 3 0 0 0 2 2 2008-09-02 Q6ZVS7 F183B_HUMAN CFAP144P1 Protein CFAP144P1 135 16.2 7 Cytoplasm 0 0 0 5 2 2008-11-25 Q75MW2 ZN767_HUMAN ZNF767P Protein ZNF767 155 17.2 0 0 0 5 2 2007-03-20 Q7Z2F6 KRBD5_HUMAN KRABD5 KRAB domain-containing protein 5 126 14.5 16 0 0 0 1 2 2008-04-29 Q7Z2V1 TNT_HUMAN C16orf82 Protein TNT 217 23.1 0 0 0 1 2 2004-03-15 Q7Z5U6 WDR53_HUMAN WDR53 WD repeat-containing protein 53 358 39 3 0 0 0 1 2 2005-09-27 Q7Z6I8 CE024_HUMAN C5orf24 UPF0461 protein C5orf24 188 20.1 5 0 0 0 1 2 2007-07-24 Q86SY8 KTAS1_HUMAN KTN1-AS1 Putative uncharacterized protein KTN1-AS1 53 5.8 0 0 0 5 2 2007-07-24 Q86WZ0 HEAT4_HUMAN HEATR4 HEAT repeat-containing protein 4 1026 117.2 14 0 0 0 1 2 2006-10-31 Q86X53 ERIC1_HUMAN ERICH1 Glutamate-rich protein 1 443 49 8 0 0 0 1 2 2005-09-27 Q86X60 FA72B_HUMAN FAM72B Protein FAM72B 149 16.6 1 0 0 0 1 2 2008-06-10 Q86Y28 BAGE4_HUMAN BAGE4 B melanoma antigen 4 39 4.2 Secreted 0 0 0 2 2 2003-10-03 Q8IU53 CASC2_HUMAN CASC2 Protein CASC2, isoforms 1/2 76 8.6 0 0 0 4 2 2008-03-18 Q8IV56 PRR15_HUMAN PRR15 Proline-rich protein 15 129 13.7 7 0 0 0 1 2 2007-01-09 Q8IVE0 CROL2_HUMAN CROCCP3 Putative ciliary rootlet coiled-coil protein-like 2 protein 287 33.3 0 0 0 5 2 2007-11-13 Q8IWF7 U2D2L_HUMAN UBE2DNL Putative ubiquitin-conjugating enzyme E2 D2-like protein 75 8.8 0 0 0 5 2 2006-10-31 Q8IX95 CTGE3_HUMAN CTAGE3P Putative cTAGE family member 3 158 18 0 0 0 5 2 2005-01-04 Q8IXR5 F178B_HUMAN FAM178B Protein FAM178B 679 76.5 2 0 0 0 1 2 2008-02-26 Q8IYD2 KLD8A_HUMAN KLHDC8A Kelch domain-containing protein 8A 350 38.9 1 0 0 0 1 2 2006-03-21 Q8IYQ7 THNS1_HUMAN THNSL1 Threonine synthase-like 1 743 83.1 10 0 0 0 1 2 2005-04-12 Q8IYW4 ENTD1_HUMAN ENTHD1 ENTH domain-containing protein 1 607 67.5 22 0 0 0 1 2 2007-12-04 Q8N0W5 IQCK_HUMAN IQCK IQ domain-containing protein K 287 33.3 16 0 0 0 1 2 2007-04-03 Q8N123 CPXCR_HUMAN CPXCR1 CPX chromosomal region candidate gene 1 protein 301 34.7 X 0 0 0 1 2 2007-10-02 Q8N239 KLH34_HUMAN KLHL34 Kelch-like protein 34 644 70.6 X 0 0 0 1 2 2007-02-06 Q8N309 LRC43_HUMAN LRRC43 Leucine-rich repeat-containing protein 43 656 73 12 0 0 0 1 2 2007-12-04 Q8N319 CF223_HUMAN LINC03040 Uncharacterized protein LINC03040 242 26.1 6 0 0 0 1 2 2008-02-05 Q8N398 VW5B2_HUMAN VWA5B2 von Willebrand factor A domain-containing protein 5B2 1242 131.7 3 0 0 0 1 2 2008-06-10 Q8N4W6 DJC22_HUMAN DNAJC22 DnaJ homolog subfamily C member 22 341 38.1 12 Membrane 7 0 0 1 2 2008-03-18 Q8N6C7 PGSF1_HUMAN MIR7-3HG Putative uncharacterized protein encoded by MIR7-3HG 128 14.3 0 0 0 5 2 2005-07-05 Q8N7N1 F86B1_HUMAN FAM86B1 Putative protein N-methyltransferase FAM86B1 330 36.8 8 2.1.1.- 0 0 0 2 2 2007-10-23 Q8N7R1 P1L12_HUMAN POM121L12 POM121-like protein 12 296 31.8 7 0 0 0 1 2 2008-09-02 Q8N813 PR23E_HUMAN PRR23E Proline-rich protein 23E 242 26 3 0 0 0 1 2 2006-06-27 Q8N9B4 ANR42_HUMAN ANKRD42 Ankyrin repeat domain-containing protein 42 389 43.1 11 0 0 0 1 2 2006-06-27 Q8NC54 KCT2_HUMAN KCT2 Keratinocyte-associated transmembrane protein 2 265 29.2 5 Membrane 1 0 0 1 2 2005-07-05 Q8NCS4 TM35B_HUMAN TMEM35B Transmembrane protein 35B 154 16.9 1 Membrane 3 0 0 1 2 2011-07-27 Q8NH21 OR4F5_HUMAN OR4F5 Olfactory receptor 4F5 305 34.3 1 Cell membrane 7 0 0 3 2 2003-10-10 Q8TAD7 OCC1_HUMAN OCC1 Overexpressed in colon carcinoma 1 protein 63 6.4 12 0 0 0 1 2 2009-04-14 Q8TAF5 LQK1_HUMAN FLVCR1-DT Putative uncharacterized protein LQK1 88 10 0 0 0 5 2 2007-09-11 Q8TAT8 YK045_HUMAN Putative uncharacterized protein LOC644613 98 11 0 0 0 5 2 2008-09-02 Q8TD35 LKAM1_HUMAN LKAAEAR1 Protein LKAAEAR1 194 21.5 20 0 0 0 1 2 2008-04-08 Q8WU43 CB015_HUMAN C2orf15 Uncharacterized protein C2orf15 91 10 2 0 0 0 1 2 2005-07-05 Q8WWM1 XAGE5_HUMAN XAGE5 X antigen family member 5 108 12.1 X 0 0 0 1 2 2003-01-17 Q8WXS4 CCGL_HUMAN TMEM37 Voltage-dependent calcium channel gamma-like subunit 190 20.9 2 Membrane 4 0 0 1 2 2006-03-07 Q8WZB0 CI130_HUMAN ERCC6L2-AS1 Putative uncharacterized protein ERCC6L2-AS1 136 14.7 0 0 0 5 2 2007-01-09 Q92527 ANKR7_HUMAN ANKRD7 Ankyrin repeat domain-containing protein 7 254 29 7 0 0 0 1 2 2002-08-30 Q92628 K0232_HUMAN KIAA0232 Uncharacterized protein KIAA0232 1395 154.8 4 0 0 0 1 2 1997-11-01 Q969H9 DIRC1_HUMAN DIRC1 Disrupted in renal carcinoma protein 1 104 11.4 2 0 0 0 2 2 2005-06-21 Q96A22 CK052_HUMAN C11orf52 Uncharacterized protein C11orf52 123 13.9 11 0 0 0 1 2 2006-12-12 Q96AT1 K1143_HUMAN KIAA1143 Uncharacterized protein KIAA1143 154 17.5 3 0 0 0 1 2 2006-09-05 Q96D70 R3HD4_HUMAN R3HDM4 R3H domain-containing protein 4 268 30.4 19 Nucleus 0 0 0 1 2 2007-03-20 Q96DE9 EOLA2_HUMAN EOLA2 Protein EOLA2 158 17.8 X 0 0 0 2 2 2005-06-21 Q96EX1 SIM12_HUMAN SMIM12 Small integral membrane protein 12 92 10.8 1 Membrane 1 0 0 1 2 2007-09-11 Q96HG1 SIM10_HUMAN SMIM10 Small integral membrane protein 10 83 9.2 X Membrane 1 0 0 1 2 2008-07-22 Q96K31 CH076_HUMAN C8orf76 Uncharacterized protein C8orf76 380 43.3 8 0 0 0 1 2 2006-03-07 Q96LM9 CT173_HUMAN C20orf173 Uncharacterized protein C20orf173 149 16.6 20 0 0 0 1 2 2002-12-13 Q96MD7 CI085_HUMAN C9orf85 Uncharacterized protein C9orf85 179 20.2 9 0 0 0 1 2 2005-07-05 Q96N35 TMM83_HUMAN LINC00052 Putative uncharacterized protein encoded by LINC00052 136 15.1 Membrane 1 0 0 5 2 2006-04-18 Q96NR7 WWAS2_HUMAN WWC2-AS2 Putative uncharacterized protein WWC2-AS2 200 21.4 0 0 0 5 2 2008-06-10 Q96PS1 FACOS_HUMAN FANCD2OS FANCD2 opposite strand protein 177 20.2 3 Cytoplasm 0 0 0 2 2 2006-05-16 Q9BZ81 MAGB5_HUMAN MAGEB5 Melanoma-associated antigen B5 275 31.9 X 0 0 0 2 2 2004-01-16 Q9H0Q0 CYRIA_HUMAN CYRIA CYFIP-related Rac1 interactor A 323 37.3 2 Membrane 0 0 0 1 2 2004-09-27 Q9H1F0 WF10A_HUMAN WFDC10A WAP four-disulfide core domain protein 10A 79 8.9 20 Secreted 0 0 0 3 2 2002-10-19 Q9H579 MROH8_HUMAN MROH8 Protein MROH8 483 54.8 20 0 0 0 1 2 2003-02-01 Q9H6K5 PRR36_HUMAN PRR36 Proline-rich protein 36 1346 132.7 19 0 0 0 1 2 2008-04-08 Q9HAU6 TCTP8_HUMAN TPT1P8 Putative translationally-controlled tumor protein-like protein TPT1P8 139 16 0 0 0 5 2 2002-01-23 Q9HBX3 SNIT1_HUMAN SND1-IT1 Uncharacterized protein encoded by SND1-IT1 110 12.9 0 0 0 4 2 2008-06-10 Q9NQR7 CC177_HUMAN CCDC177 Coiled-coil domain-containing protein 177 707 79.7 14 0 0 0 1 2 2005-07-19 Q9NWW7 CB042_HUMAN C2orf42 Uncharacterized protein C2orf42 574 64.1 2 0 0 0 1 2 2007-09-11 Q9UEU5 GGE2D_HUMAN GAGE2D G antigen 2D 116 12.8 0 0 0 1 2 2002-07-11 Q9UFV1 TBC29_HUMAN TBC1D29P Putative TBC1 domain family member 29 150 16.3 0 0 0 5 2 2008-03-18 Q9Y5M1 F215A_HUMAN FAM215A Uncharacterized protein FAM215A 114 12 0 0 0 5 2 2000-05-30 A0A024R1R8 TMA7B_HUMAN TMA7B Translation machinery-associated protein 7B 64 7.1 22 0 0 0 3 2 2023-02-22 A0A075B6S0 TRGJ1_HUMAN TRGJ1 T cell receptor gamma joining 1 16 1.8 7 Cell membrane 0 0 0 1 2 2019-01-16 A0A075B6Y3 TJA3_HUMAN TRAJ3 T cell receptor alpha joining 3 20 2.1 14 Cell membrane 0 0 0 4 2 2018-07-18 A0A075B706 TRDJ1_HUMAN TRDJ1 T cell receptor delta joining 1 16 1.8 14 Cell membrane 0 0 0 1 2 2018-12-05 A0A087WTH1 TM265_HUMAN TMEM265 Transmembrane protein 265 108 11.8 16 Membrane 2 0 0 3 2 2015-04-01 A0A0D9SF12 CC163_HUMAN CCDC163 Transmembrane protein CCDC163 145 16.2 1 Membrane 1 0 0 2 2 2018-06-20 A0A0J9YWL9 TX13C_HUMAN TEX13C Testis-expressed protein 13C 993 109.8 X 0 0 0 1 2 2016-04-13 A0A0U1RQI7 KLF18_HUMAN KLF18 Kruppel-like factor 18 1052 112.6 1 Nucleus 0 0 0 3 2 2018-07-18 A0A0U1RRI6 CENL3_HUMAN CENPVL3 Centromere protein V-like protein 3 272 29.9 X 0 0 0 1 2 2018-07-18 A0A1B0GTR4 SPRR5_HUMAN SPRR5 Small proline-rich protein 5 108 11.9 1 0 0 0 1 2 2017-09-27 A0A1B0GVQ3 CC200_HUMAN CCDC200 Coiled-coil domain-containing protein 200 168 19.4 17 0 0 0 1 2 2019-06-05 A0A1B0GVX0 LITAD_HUMAN LITAFD LITAF domain-containing protein 72 8.2 16 Membrane 0 0 0 3 2 2019-06-05 A0A1W2PPK0 CPHL2_HUMAN CPHXL2 Cytoplasmic polyadenylated homeobox-like protein 2 400 45.2 16 Nucleus 0 0 0 3 2 2022-02-23 A0A1W2PPL8 TFKLN_HUMAN TAF11L14 TATA-box-binding protein-associated factor 11-like protein 14 197 21.8 5 0 0 0 2 2 2022-08-03 A0A1W2PPW3 TFKLL_HUMAN TAF11L12 TATA-box-binding protein-associated factor 11-like protein 12 197 21.8 5 0 0 0 1 2 2022-08-03 A0A1W2PQL4 ZN722_HUMAN ZNF722 Zinc finger protein 722 384 44.6 7 Nucleus 0 0 0 3 2 2022-02-23 A0A1W2PQU2 KANTR_HUMAN KANTR KANTR integral membrane protein 76 8.6 X Membrane 1 0 0 3 2 2023-06-28 A0A1W2PRV1 TFKL3_HUMAN TAF11L3 TATA-box-binding protein-associated factor 11-like protein 3 198 21.7 5 0 0 0 2 2 2022-08-03 A0A286YEX9 SCGRX_HUMAN SCYGR10 Small cysteine and glycine repeat-containing protein 10 105 10 2 0 0 0 1 2 2018-10-10 A0A286YF58 TM271_HUMAN TMEM271 Transmembrane protein 271 385 39.1 4 Membrane 4 0 0 1 2 2018-03-28 A0A2R8YFL7 OSP4A_HUMAN OOSP4A Oocyte-secreted protein 4A 184 21 11 Secreted 0 0 0 1 2 2018-10-10 A0A3G1DJN1 SHLP6_HUMAN MT-RNR2 Small humanin-like peptide 6 20 2.4 MT 0 0 0 4 2 2026-01-28 A1L157 TSN11_HUMAN TSPAN11 Tetraspanin-11 253 28.2 12 Membrane 4 0 0 1 2 2007-12-04 A1L443 NTM2F_HUMAN NUTM2F NUT family member 2F 756 80.8 9 0 0 0 2 2 2008-06-10 A4D1E1 Z804B_HUMAN ZNF804B Zinc finger protein 804B 1349 152.6 7 0 0 0 1 2 2007-05-29 A6ND91 ASPDH_HUMAN ASPDH Aspartate dehydrogenase domain-containing protein 283 29.9 19 0 0 0 1 2 2007-09-11 A6NDE8 GG12H_HUMAN GAGE12H G antigen 12H 117 12.9 X 0 0 0 1 2 2008-06-10 A6NDK9 GOG6C_HUMAN GOLGA6C Golgin subfamily A member 6C 693 79.9 15 0 0 0 1 2 2008-04-29 A6NE01 F186A_HUMAN FAM186A Protein FAM186A 2351 262.8 12 0 0 0 1 2 2008-04-29 A6NEH6 TM247_HUMAN TMEM247 Transmembrane protein 247 219 25.2 2 Membrane 2 0 0 1 2 2008-04-08 A6NGB0 T191C_HUMAN TMEM191C Transmembrane protein 191C 302 34.8 22 Membrane 1 0 0 1 2 2008-06-10 A6NGH8 ANR61_HUMAN ANKRD61 Ankyrin repeat domain-containing protein 61 418 46.1 7 0 0 0 4 2 2008-04-08 A6NGS2 ERIC4_HUMAN ERICH4 Glutamate-rich protein 4 130 14.5 19 0 0 0 1 2 2008-06-10 A6NGU7 CX028_HUMAN LINC01546 Putative uncharacterized protein encoded by LINC01546 62 7.2 0 0 0 5 2 2008-04-08 A6NHY2 AKD1B_HUMAN ANKDD1B Ankyrin repeat and death domain-containing protein 1B 528 59.1 5 0 0 0 4 2 2008-04-29 A6NI56 CC154_HUMAN CCDC154 Coiled-coil domain-containing protein 154 667 75.4 16 Early endosome 0 0 0 1 2 2008-04-29 A6NIE6 RN3P2_HUMAN RRN3P2 Putative RRN3-like protein RRN3P2 340 38 0 0 0 5 2 2008-04-29 A6NIN4 RN227_HUMAN RNF227 RING finger protein 227 190 21 17 0 0 0 1 2 2008-04-08 A6NJ64 NPIB2_HUMAN NPIPB2 Nuclear pore complex-interacting protein family member B2 397 45.6 16 Nucleus 0 0 0 1 2 2008-06-10 A6NJR5 SPDL3_HUMAN Putative speedy protein-like protein 3 290 34.7 0 0 0 5 2 2008-06-10 A6NKH3 RL37L_HUMAN RPL37AP8 Putative ribosomal protein eL43-like 93 10.6 0 0 0 5 2 2008-04-08 A6NKL6 T200C_HUMAN TMEM200C Transmembrane protein 200C 621 63.9 18 Membrane 2 0 0 1 2 2008-09-02 A6NLU5 VTM2B_HUMAN VSTM2B V-set and transmembrane domain-containing protein 2B 285 30.3 19 Membrane 1 0 0 1 2 2008-02-26 A6NNL0 NTM2B_HUMAN NUTM2B NUT family member 2B 878 94 10 0 0 0 3 2 2008-06-10 A8MQ11 PM2P5_HUMAN PMS2P5 Postmeiotic segregation increased 2-like protein 5 134 15.2 0 0 0 5 2 2008-05-20 A8MT65 ZN891_HUMAN ZNF891 Zinc finger protein 891 544 63.6 12 Nucleus 0 0 0 1 2 2008-09-02 A8MTL0 IQCF5_HUMAN IQCF5 IQ domain-containing protein F5 148 18 3 0 0 0 1 2 2008-09-02 A8MTT3 CEBOS_HUMAN CEBPZOS Protein CEBPZOS 80 9.3 2 Mitochondrion membrane 1 0 0 1 2 2015-03-04 A8MUN3 YQ048_HUMAN Putative uncharacterized protein ENSP00000381830 132 14.2 Secreted 0 0 0 5 2 2008-09-02 A8MYZ0 MIY4B_HUMAN MINDY4B Inactive ubiquitin carboxyl-terminal hydrolase MINDY-4B 460 52 3 0 0 0 3 2 2008-07-22 A8MZ97 CB074_HUMAN C2orf74 Uncharacterized protein C2orf74 187 21.2 2 Membrane 1 0 0 1 2 2008-07-01 B1AK76 SNUFL_HUMAN SNURFL Putative SNURF-like protein 121 14.2 0 0 0 5 2 2008-06-10 B3KS81 SRRM5_HUMAN SRRM5 Serine/arginine repetitive matrix protein 5 715 80.4 19 0 0 0 1 2 2010-07-13 B4DXR9 ZN732_HUMAN ZNF732 Zinc finger protein 732 585 67.8 4 Nucleus 0 0 0 1 2 2009-09-01 C9J3V5 TEX22_HUMAN TEX22 Testis-expressed protein 22 150 16.9 14 Cytoplasm; Cytoplasmic vesicle 0 0 0 1 2 2011-06-28 C9JBD0 KRBD1_HUMAN KRABD1 KRAB domain-containing protein 1 128 14.9 3 0 0 0 1 2 2011-02-08 C9JN71 ZN878_HUMAN ZNF878 Zinc finger protein 878 531 61.5 19 Nucleus 0 0 0 1 2 2010-05-18 C9JVW0 INAM1_HUMAN INAFM1 Putative transmembrane protein INAFM1 142 14.7 19 Membrane 1 0 0 1 2 2010-05-18 E5RHQ5 NPB11_HUMAN NPIPB11 Nuclear pore complex-interacting protein family member B11 1161 129.2 16 Membrane 1 0 0 3 2 2013-10-16 E5RQL4 FONG_HUMAN FTCDNL1 Formiminotransferase N-terminal subdomain-containing protein 147 16.3 2 0 0 0 2 2 2011-12-14 E9PI22 P23D1_HUMAN PRR23D1 Proline-rich protein 23D1 279 31.1 8 0 0 0 1 2 2014-01-22 E9PJ23 NPIB6_HUMAN NPIPB6 Nuclear pore complex-interacting protein family member B6 425 49.2 16 0 0 0 1 2 2013-10-16 G3V211 CL079_HUMAN LINC01619 Uncharacterized protein encoded by LINC01619 115 13.5 0 0 0 5 2 2013-09-18 H0UI37 TSTD3_HUMAN TSTD3 Thiosulfate sulfurtransferase/rhodanese-like domain-containing protein 3 97 11.3 6 0 0 0 3 2 2012-10-03 H0YKK7 GG6LS_HUMAN GOLGA6L19 Putative golgin subfamily A member 6-like protein 19 550 64.5 0 0 0 5 2 2014-01-22 H0YM25 GG6LV_HUMAN GOLGA6L22 Golgin subfamily A member 6-like protein 22 854 107.8 15 0 0 0 3 2 2014-06-11 H7C350 CC188_HUMAN CCDC188 Coiled-coil domain-containing protein 188 402 43.5 22 Membrane 1 0 0 1 2 2016-02-17 I3L0S3 PYAS1_HUMAN PYCARD-AS1 Putative uncharacterized protein PYCARD-AS1 204 21.9 0 0 0 5 2 2013-05-01 I6L899 GOG8R_HUMAN GOLGA8R Golgin subfamily A member 8R 631 71.5 15 0 0 0 1 2 2013-01-09 O43261 LEU1_HUMAN DLEU1 Leukemia-associated protein 1 78 9 0 0 0 1 2 2000-12-01 O60688 YPEL1_HUMAN YPEL1 Protein yippee-like 1 119 13.6 22 Nucleus 0 0 0 3 2 2003-01-17 O95626 AN32D_HUMAN ANP32D Acidic leucine-rich nuclear phosphoprotein 32 family member D 131 14.8 12 0 0 0 1 2 2002-12-06 P09565 IG2R_HUMAN Putative insulin-like growth factor 2-associated protein 113 12.1 0 0 0 1 2 1989-07-01 P0C2L3 F163B_HUMAN FAM163B Protein FAM163B 166 18.2 9 Membrane 1 0 0 1 2 2007-03-20 P0C672 TSN19_HUMAN TSPAN19 Tetraspanin-19 248 28.5 12 Membrane 3 0 0 3 2 2008-02-05 P0C6P0 BCL8_HUMAN NBEAP1 Putative protein BCL8 100 11.2 0 0 0 5 2 2008-03-18 P0C7X3 CCYL3_HUMAN CCNYL3 Putative cyclin-Y-like protein 3 344 39.1 0 0 0 3 2 2008-07-22 P0C7X4 FHL19_HUMAN FTH1P19 Putative ferritin heavy polypeptide-like 19 201 22.6 0 0 0 5 2 2008-07-22 P0C851 PIRT_HUMAN PIRT Phosphoinositide-interacting protein 137 15.3 17 Membrane 2 0 0 1 2 2008-09-02 P0C866 F91A2_HUMAN LINC00869 Putative uncharacterized protein encoded by LINC00869 280 30.8 0 0 0 5 2 2008-09-02 P0C874 S31D3_HUMAN SPATA31D3 Spermatogenesis-associated protein 31D3 917 102.4 9 Membrane 1 0 0 2 2 2008-09-02 P0CB48 UBFL6_HUMAN UBTFL6 Putative upstream-binding factor 1-like protein 6 400 46.6 Nucleus 0 0 0 5 2 2009-11-03 P0CG31 Z286B_HUMAN ZNF286B Putative zinc finger protein 286B 522 59.6 Nucleus 0 0 0 5 2 2010-07-13 P0CH99 Z705D_HUMAN ZNF705D Zinc finger protein 705D 300 34.7 8 Nucleus 0 0 0 1 2 2010-10-05 P0CJ76 HMN9_HUMAN MTRNR2L9 Humanin-like 9 24 2.7 Secreted; Cytoplasm 0 0 0 2 2 2011-02-08 P0CJ87 DU4L4_HUMAN DUX4L4 Double homeobox protein 4-like protein 4 422 44.8 Nucleus 0 0 0 3 2 2011-03-08 P0CJ88 DU4L5_HUMAN DUX4L5 Double homeobox protein 4-like protein 5 424 44.9 Nucleus 0 0 0 3 2 2011-03-08 P0CJ89 DU4L6_HUMAN DUX4L6 Double homeobox protein 4-like protein 6 424 44.9 Nucleus 0 0 0 3 2 2011-03-08 P0CW19 LIMS3_HUMAN LIMS3 LIM and senescent cell antigen-like-containing domain protein 3 117 13.3 2 Cytoplasm 0 0 0 2 2 2011-05-31 P0CW21 SPGOS_HUMAN SPART-AS1 Putative uncharacterized protein SPART-AS1 52 6.2 0 0 0 5 2 2011-05-31 P0DI80 ERLN_HUMAN ERLN Endoregulin 62 7 17 Endoplasmic reticulum membrane 1 0 0 1 2 2011-09-21 P0DJG4 SMA2L_HUMAN SPMAP2L Sperm microtubule associated protein 2-like 465 53 4 0 0 0 1 2 2012-04-18 P0DKX4 SIM18_HUMAN SMIM18 Small integral membrane protein 18 95 11.1 8 Membrane 1 0 0 1 2 2013-03-06 P0DMB1 P23D2_HUMAN PRR23D2 Proline-rich protein 23D2 279 31.1 8 0 0 0 3 2 2014-01-22 P0DMQ5 INAM2_HUMAN INAFM2 Putative transmembrane protein INAFM2 153 15.4 15 Membrane 1 0 0 1 2 2014-11-26 P0DN26 PAL4F_HUMAN PPIAL4F Peptidyl-prolyl cis-trans isomerase A-like 4F 164 18.2 1 5.2.1.8 Cytoplasm 0 0 0 3 2 2015-10-14 P0DOY5 HD101_HUMAN IGHD1-1 Immunoglobulin heavy diversity 1-1 5 0.4 14 Secreted; Cell membrane 0 0 0 4 2 2017-03-15 P0DPA3 SNH28_HUMAN SNHG28 Putative uncharacterized protein SNHG28 235 25.1 0 0 0 5 2 2017-10-25 P0DSO2 SCGR9_HUMAN SCYGR9 Small cysteine and glycine repeat-containing protein 9 92 8.8 0 0 0 1 2 2020-08-12 P0DTA3 SPD11_HUMAN SPDYE11 Speedy protein E11 265 31.4 7 0 0 0 3 2 2019-10-16 P0DUX0 SPD10_HUMAN SPDYE10 Speedy protein E10 265 31.4 7 0 0 0 3 2 2021-09-29 P0DV73 F90AG_HUMAN FAM90A16 Protein FAM90A16 464 49.8 8 0 0 0 3 2 2022-05-25 P0DV79 SPD18_HUMAN SPDYE18 Speedy protein E18 352 41.8 7 0 0 0 3 2 2022-05-25 P0DW12 TFKL7_HUMAN TAF11L7 TATA-box-binding protein-associated factor 11-like protein 7 198 21.6 5 0 0 0 2 2 2022-08-03 P0DX02 GG6LZ_HUMAN GOLGA6L26 Golgin subfamily A member 6-like protein 26 649 81 15 0 0 0 3 2 2022-12-14 P0DX52 GOG8F_HUMAN GOLGA8F Golgin subfamily A member 8F 636 71.6 15 0 0 0 2 2 2024-01-24 P22103 PNEU_HUMAN Pneumadin 10 1 0 0 0 1 2 1991-08-01 P49223 SPIT3_HUMAN SPINT3 Kunitz-type protease inhibitor 3 89 10.3 20 Secreted 0 0 0 1 2 1996-02-01 P58550 FXYD8_HUMAN FXYD6P3 Putative FXYD domain-containing ion transport regulator 8 94 10.6 Membrane 1 0 0 5 2 2002-01-23 P61571 REC21_HUMAN ERVK-21 Endogenous retrovirus group K member 21 Rec protein 104 11.7 Cytoplasm; Nucleus 0 0 0 1 2 2004-05-24 P61583 NP5_HUMAN ERVK-5 Endogenous retrovirus group K member 5 Np9 protein 75 8.9 Nucleus 0 0 0 3 2 2004-05-24 P86434 AAS1_HUMAN ADORA2A-AS1 Putative uncharacterized protein ADORA2A-AS1 159 17.2 0 0 0 5 2 2010-02-09 Q0D2K5 EGFEM_HUMAN EGFEM1P Putative EGF-like and EMI domain-containing protein 1 195 21.6 0 0 0 5 2 2008-06-10 Q0VF49 K2012_HUMAN KIAA2012 Uncharacterized protein KIAA2012 1180 135.3 0 0 0 1 2 2008-04-29 Q14236 EPAG_HUMAN DIAPH2-AS1 Early lymphoid activation gene protein 149 17.8 0 0 0 2 2 2008-02-05 Q147U7 SMCO1_HUMAN SMCO1 Single-pass membrane and coiled-coil domain-containing protein 1 214 24.6 3 Membrane 1 0 0 1 2 2006-12-12 Q15053 K0040_HUMAN KIAA0040 Uncharacterized protein KIAA0040 99 11.4 1 Membrane 1 0 0 1 2 1998-07-15 Q15527 SURF2_HUMAN SURF2 Surfeit locus protein 2 256 29.6 9 0 0 0 1 2 1997-11-01 Q17RP2 TIGD6_HUMAN TIGD6 Tigger transposable element-derived protein 6 521 58.7 5 Nucleus 0 0 0 1 2 2007-01-23 Q2TAM9 TUSC1_HUMAN TUSC1 Tumor suppressor candidate gene 1 protein 209 23.1 9 0 0 0 1 2 2007-12-04 Q3LHN0 KR251_HUMAN KRTAP25-1 Keratin-associated protein 25-1 102 11.7 21 0 0 0 3 2 2007-10-23 Q3SY05 CA157_HUMAN LINC00303 Putative uncharacterized protein encoded by LINC00303 128 14.6 0 0 0 5 2 2006-07-25 Q49A33 Z876P_HUMAN ZNF876P Putative zinc finger protein 876 203 23.4 Nucleus 0 0 0 5 2 2008-04-29 Q49AM3 TTC31_HUMAN TTC31 Tetratricopeptide repeat protein 31 519 57.1 2 0 0 0 1 2 2007-03-20 Q4QY38 DB134_HUMAN DEFB134 Beta-defensin 134 66 7.6 8 Secreted 0 0 0 3 2 2005-12-20 Q4V321 GAG13_HUMAN GAGE13 G antigen 13 117 13 X 0 0 0 3 2 2006-10-17 Q4VX62 CF099_HUMAN LINC02901 Putative uncharacterized protein LINC02901 156 17.9 0 0 0 5 2 2008-09-02 Q537H7 SPT45_HUMAN SPATA45 Spermatogenesis-associated protein 45 98 11.4 1 0 0 0 1 2 2007-05-01 Q569K6 CC157_HUMAN CCDC157 Coiled-coil domain-containing protein 157 752 83.9 22 0 0 0 1 2 2008-02-26 Q5CZ79 AN20B_HUMAN ANKRD20A8P Ankyrin repeat domain-containing protein 20B 823 93.9 0 0 0 1 2 2008-04-08 Q5DJT8 CT452_HUMAN CT45A2 Cancer/testis antigen family 45 member A2 189 21.4 X 0 0 0 2 2 2007-10-23 Q5H9B9 BM2KL_HUMAN BMP2KL Putative BMP-2-inducible kinase-like protein 411 46.1 0 0 0 5 2 2008-04-29 Q5HY64 FA47C_HUMAN FAM47C Putative protein FAM47C 1035 115.3 X 0 0 0 1 2 2008-09-02 Q5JNZ5 RS26L_HUMAN RPS26P11 Putative ribosomal protein eS26-like 115 13 0 0 0 5 2 2007-01-09 Q5K130 CLU1O_HUMAN CLLU1-AS1 Putative uncharacterized protein CLLU1-AS1 101 11 12 0 0 0 5 2 2007-08-21 Q5QFB9 PAPAS_HUMAN PAPPA-AS1 Protein PAPPAS 102 12.2 Endoplasmic reticulum membrane 2 0 0 5 2 2008-01-15 Q5SQS7 SH24B_HUMAN SH2D4B SH2 domain-containing protein 4B 431 51.2 10 0 0 0 1 2 2007-10-23 Q5T089 MORN1_HUMAN MORN1 MORN repeat-containing protein 1 497 53.9 1 0 0 0 1 2 2006-07-25 Q5T4H9 CSC10_HUMAN MIR1915HG Putative uncharacterized protein encoded by MIR1915-HG 136 14.9 0 0 0 5 2 2006-07-25 Q5T5N4 CF118_HUMAN C6orf118 Uncharacterized protein C6orf118 469 53.8 6 0 0 0 1 2 2005-07-19 Q5T9Z0 TEDM1_HUMAN TEDDM1 Transmembrane epididymal protein 1 273 31.3 1 Membrane 6 0 0 1 2 2007-10-23 Q5TGJ6 HDGL1_HUMAN HDGFL1 Hepatoma-derived growth factor-like protein 1 251 27.2 6 0 0 0 1 2 2008-05-20 Q5TGP6 MROH9_HUMAN MROH9 Maestro heat-like repeat-containing protein family member 9 573 65.1 1 0 0 0 1 2 2007-05-01 Q5VT03 NTM2D_HUMAN NUTM2D NUT family member 2D 806 86.3 10 0 0 0 3 2 2006-12-12 Q5VT28 FAM27_HUMAN FAM27B Protein FAM27A/B/C 67 7.4 0 0 0 1 2 2006-12-12 Q5VWM4 PRAM8_HUMAN PRAMEF8 PRAME family member 8 474 53.7 1 0 0 0 2 2 2005-12-20 Q5VXH5 PRAM7_HUMAN PRAMEF7 PRAME family member 7 474 53.6 1 0 0 0 2 2 2005-12-20 Q5W0N0 CI057_HUMAN C9orf57 Uncharacterized protein C9orf57 161 18.1 9 Membrane 1 0 0 1 2 2006-03-21 Q5W188 CST9P_HUMAN CST9LP1 Putative cystatin-9-like protein CST9LP1 147 17.3 Secreted 0 0 0 5 2 2007-05-01 Q63HN1 S31F2_HUMAN SPATA31F2P Putative protein SPATA31F2P 556 61.9 0 0 0 5 2 2007-10-23 Q6GV28 TM225_HUMAN TMEM225 Transmembrane protein 225 225 25.8 11 Cytoplasmic vesicle 4 0 0 2 2 2008-06-10 Q6IE37 OVOS1_HUMAN OVOS1 Ovostatin homolog 1 1185 134.5 Secreted 0 0 0 2 2 2008-02-26 Q6NSI3 FA53A_HUMAN FAM53A Protein FAM53A 398 42.6 4 Nucleus 0 0 0 1 2 2006-11-28 Q6NVV1 R13P3_HUMAN RPL13AP3 Putative ribosomal protein uL13-like 102 12.1 0 0 0 5 2 2008-05-20 Q6NXP6 NXRD1_HUMAN NOXRED1 NADP-dependent oxidoreductase domain-containing protein 1 359 39.9 14 1.-.-.- 0 0 0 1 2 2007-03-20 Q6P2S7 TTC41_HUMAN TTC41P Putative tetratricopeptide repeat protein 41 1318 151.7 Cytoplasm 0 0 0 5 2 2008-03-18 Q6P3W6 NBPFA_HUMAN NBPF10 NBPF family member NBPF10 3795 435.6 1 Cytoplasm 0 0 0 3 2 2007-05-29 Q6P3X8 PGBD2_HUMAN PGBD2 PiggyBac transposable element-derived protein 2 592 68 1 0 0 0 1 2 2007-05-29 Q6P575 BGP11_HUMAN GUSBP11 Putative inactive beta-glucuronidase protein GUSBP11 273 29.9 0 0 0 5 2 2008-04-29 Q6PEV8 F199X_HUMAN FAM199X Protein FAM199X 388 42.8 X 0 0 0 1 2 2006-10-03 Q6PK57 DMP34_HUMAN DNM1P34 Putative GED domain-containing protein DNM1P34 102 11.6 0 0 0 5 2 2008-04-29 Q6Q795 VBPC1_HUMAN Putative viral protein-binding protein C1 121 13.4 0 0 0 5 2 2008-03-18 Q6QAJ8 TM220_HUMAN TMEM220 Transmembrane protein 220 160 17.8 17 Membrane 5 0 0 1 2 2008-02-26 Q6UXQ8 YO002_HUMAN Putative uncharacterized protein UNQ6190/PRO20217 127 13.4 Secreted 0 0 0 5 2 2008-02-05 Q6UXS0 CL19A_HUMAN CLEC19A C-type lectin domain family 19 member A 186 21.4 16 Secreted 0 0 0 1 2 2008-02-05 Q6WQI6 HEPN1_HUMAN HEPN1 Protein HEPN1 88 10.3 11 Cytoplasm 0 0 0 2 2 2008-02-05 Q6WRX3 ZY11A_HUMAN ZYG11A Protein zyg-11 homolog A 759 85.8 1 0 0 0 1 2 2007-10-02 Q6ZN03 CU136_HUMAN LINC00322 Putative uncharacterized protein encoded by LINC00322 302 32.4 0 0 0 5 2 2007-11-13 Q6ZSJ8 CA122_HUMAN C1orf122 Uncharacterized protein C1orf122 110 11.5 1 0 0 0 1 2 2006-10-31 Q6ZT52 FA43B_HUMAN FAM43B Protein FAM43B 329 36.8 1 0 0 0 1 2 2004-08-16 Q6ZV77 CI139_HUMAN LINC02908 Putative uncharacterized protein LINC02908 190 20 0 0 0 5 2 2007-04-17 Q6ZVW7 I17EL_HUMAN IL17REL Interleukin-17 receptor E-like protein 507 56.6 22 Secreted 0 0 0 1 2 2008-03-18 Q7Z3B0 SIM15_HUMAN SMIM15 Small integral membrane protein 15 74 8.6 5 Membrane 1 0 0 1 2 2008-03-18 Q86UD1 OAF_HUMAN OAF Out at first protein homolog 273 30.7 11 0 0 0 1 2 2007-06-26 Q86UP9 LHPL3_HUMAN LHFPL3 LHFPL tetraspan subfamily member 3 protein 236 25.8 7 Membrane 4 0 0 1 2 2006-06-27 Q8IUI4 S29P2_HUMAN SNX29P2 Putative protein SNX29P2 249 27.2 0 0 0 5 2 2007-01-09 Q8IV32 CCD71_HUMAN CCDC71 Coiled-coil domain-containing protein 71 467 49.6 3 0 0 0 1 2 2006-05-16 Q8IWD5 MFS6L_HUMAN MFSD6L Major facilitator superfamily domain-containing protein 6-like 586 64 17 Membrane 11 0 0 1 2 2008-02-26 Q8IWN6 F223A_HUMAN FAM223A Protein FAM223A 122 13.8 0 0 0 2 2 2005-08-16 Q8IXL9 IQCF2_HUMAN IQCF2 IQ domain-containing protein F2 164 19.6 3 0 0 0 1 2 2007-04-03 Q8MH63 LAT1N_HUMAN SLC7A5P1 Putative L-type amino acid transporter 1-like protein MLAS 180 18.8 Membrane 3 0 0 5 2 2008-09-02 Q8N1V8 CJ085_HUMAN LINC01561 Uncharacterized protein encoded by LINC01561 128 13.3 0 0 0 5 2 2006-12-12 Q8N1Y9 YI025_HUMAN Putative uncharacterized protein FLJ37218 231 24.9 Membrane 1 0 0 5 2 2008-06-10 Q8N446 ZN843_HUMAN ZNF843 Zinc finger protein 843 348 37.1 16 0 0 0 1 2 2008-07-22 Q8N485 LIX1_HUMAN LIX1 Protein limb expression 1 homolog 282 31.9 5 0 0 0 1 2 2006-04-18 Q8N4B5 PRR18_HUMAN PRR18 Proline-rich protein 18 295 30.9 6 0 0 0 1 2 2007-10-23 Q8N4K4 RPRML_HUMAN RPRML Reprimo-like protein 120 12.3 17 Membrane 1 0 0 2 2 2007-12-04 Q8N5N4 CC022_HUMAN C3orf22 Uncharacterized protein C3orf22 141 15.7 3 Cytoplasm 0 0 0 1 2 2006-05-16 Q8N614 TM156_HUMAN TMEM156 Transmembrane protein 156 296 34.3 4 Membrane 2 0 0 1 2 2007-04-17 Q8N6L7 TM252_HUMAN TMEM252 Transmembrane protein 252 170 18.7 9 Membrane 2 0 0 1 2 2005-07-05 Q8N755 S66A3_HUMAN SLC66A3 Solute carrier family 66 member 3 202 22.6 2 Membrane 4 0 0 1 2 2006-04-18 Q8N7L0 F216B_HUMAN FAM216B Protein FAM216B 139 16.4 13 0 0 0 1 2 2006-12-12 Q8N7Y1 KIAS3_HUMAN KIRREL3-AS3 Putative uncharacterized protein KIRREL3-AS3 241 25.8 0 0 0 5 2 2006-06-27 Q8N7Z2 GG6L1_HUMAN GOLGA6L1 Golgin subfamily A member 6-like protein 1 668 83.1 15 0 0 0 2 2 2008-03-18 Q8N816 TMM99_HUMAN KRT10-AS1 Uncharacterized protein KRT10-AS1 258 28 Membrane 3 0 0 2 2 2006-10-31 Q8N888 BCOR2_HUMAN BCORP1 Putative BCoR-like protein 2 145 16.3 0 0 0 5 2 2006-12-12 Q8N8C0 ZN781_HUMAN ZNF781 Zinc finger protein 781 355 41.5 19 Nucleus 0 0 0 2 2 2007-07-10 Q8N8D7 NKAI3_HUMAN NKAIN3 Sodium/potassium-transporting ATPase subunit beta-1-interacting protein 3 197 22.6 8 Cell membrane 4 0 0 1 2 2006-12-12 Q8N8L6 ARL10_HUMAN ARL10 ADP-ribosylation factor-like protein 10 244 27.5 5 0 0 0 1 2 2005-11-22 Q8N910 CO056_HUMAN PAK6-AS1 Putative uncharacterized protein PAK6-AS1 161 17 0 0 0 5 2 2008-02-05 Q8N9R6 CDRT4_HUMAN CDRT4 CMT1A duplicated region transcript 4 protein 152 17.6 17 0 0 0 1 2 2008-01-15 Q8N9W7 YO010_HUMAN Putative transmembrane protein FLJ36131 124 13.7 Membrane 1 0 0 5 2 2008-03-18 Q8N9X5 TMM75_HUMAN LINC02912 Putative protein encoded by LINC02912 138 15.4 Membrane 2 0 0 5 2 2007-01-09 Q8NA70 FA47B_HUMAN FAM47B Protein FAM47B 645 73.9 X 0 0 0 1 2 2005-07-19 Q8NAA6 CO053_HUMAN LINC02694 Putative uncharacterized protein encoded by LINC02694 179 19.7 0 0 0 5 2 2008-06-10 Q8NAV2 CH058_HUMAN C8orf58 Uncharacterized protein C8orf58 365 39.7 8 0 0 0 1 2 2007-05-01 Q8NCQ3 NC301_HUMAN LINC00301 Putative uncharacterized protein encoded by LINC00301 95 11 Membrane 1 0 0 5 2 2006-12-12 Q8ND94 LRN4L_HUMAN LRRN4CL LRRN4 C-terminal-like protein 238 25.3 11 Membrane 1 0 0 1 2 2008-02-05 Q8TB05 UBAD1_HUMAN UBALD1 UBA-like domain-containing protein 1 177 19 16 0 0 0 1 2 2006-05-16 Q8TCA0 LRC20_HUMAN LRRC20 Leucine-rich repeat-containing protein 20 184 20.5 10 0 0 0 1 2 2005-10-25 Q8TDY3 ACTT2_HUMAN ACTRT2 Actin-related protein T2 377 41.7 1 Cytoplasm 0 0 0 1 2 2004-05-10 Q8TE82 S3TC1_HUMAN SH3TC1 SH3 domain and tetratricopeptide repeat-containing protein 1 1336 147 4 0 0 0 1 2 2005-01-04 Q8WTZ4 CA5BL_HUMAN CA5BP1 Putative inactive carbonic anhydrase 5B-like protein 195 22.6 0 0 0 5 2 2007-11-13 Q8WUB2 F216A_HUMAN FAM216A Protein FAM216A 273 30.8 12 0 0 0 1 2 2007-05-29 Q8WW59 SPRY4_HUMAN SPRYD4 SPRY domain-containing protein 4 207 23.1 12 0 0 0 1 2 2006-06-27 Q96DM1 PGBD4_HUMAN PGBD4 PiggyBac transposable element-derived protein 4 585 67 15 0 0 0 1 2 2007-05-29 Q96F83 CLBA1_HUMAN CLBA1 Uncharacterized protein CLBA1 325 35.7 14 0 0 0 1 2 2007-02-06 Q96FQ7 CR018_HUMAN LINC00526 Putative uncharacterized protein encoded by LINC00526 95 10.2 0 0 0 5 2 2005-07-05 Q96HH4 TM169_HUMAN TMEM169 Transmembrane protein 169 297 33.6 2 Membrane 2 0 0 1 2 2007-01-09 Q96IW2 SHD_HUMAN SHD SH2 domain-containing adapter protein D 340 38.3 19 0 0 0 1 2 2006-07-25 Q96LQ0 PPR36_HUMAN PPP1R36 Protein phosphatase 1 regulatory subunit 36 422 49.4 14 0 0 0 1 2 2005-07-19 Q96M19 CL067_HUMAN LINC00477 Putative transmembrane protein encoded by LINC00477 166 18.2 Membrane 3 0 0 5 2 2008-07-22 Q96MU5 CQ077_HUMAN CD300LD-AS1 Uncharacterized protein CD300LD-AS1 243 26.3 Secreted 0 0 0 2 2 2006-12-12 Q9BR26 OCSTP_HUMAN OCSTAMP Osteoclast stimulatory transmembrane protein 566 61.6 20 Membrane 6 0 0 2 2 2008-07-01 Q9BTX7 TTPAL_HUMAN TTPAL Alpha-tocopherol transfer protein-like 342 38.5 20 0 0 0 1 2 2003-02-01 Q9BVW6 SMIM2_HUMAN SMIM2 Small integral membrane protein 2 85 9.5 13 Membrane 1 0 0 1 2 2008-02-26 Q9BYL1 SAM10_HUMAN SAMD10 Sterile alpha motif domain-containing protein 10 202 22.8 20 0 0 0 1 2 2002-12-06 Q9BZ68 FR8P1_HUMAN FRMD8P1 Putative FERM domain-containing protein FRMD8P1 369 41.1 0 0 0 5 2 2007-07-24 Q9H0P7 AGIT1_HUMAN AGPAT4-IT1 Putative uncharacterized protein encoded by AGPAT4-IT1 198 20.9 0 0 0 5 2 2003-05-09 Q9H246 CA021_HUMAN C1orf21 Uncharacterized protein C1orf21 121 13.9 1 0 0 0 1 2 2005-07-19 Q9H2J1 CI037_HUMAN ARRDC1-AS1 Uncharacterized protein ARRDC1-AS1 176 18 0 0 0 1 2 2005-07-19 Q9H4R4 CT191_HUMAN NCOR1P1 Putative nuclear receptor corepressor 1-like protein NCOR1P1 102 11.3 0 0 0 5 2 2007-01-09 Q9H6N6 MYH16_HUMAN MYH16 Putative uncharacterized protein MYH16 1097 128.3 0 0 0 1 2 2015-05-27 Q9H8W3 F204A_HUMAN FAM204A Protein FAM204A 233 27 10 0 0 0 1 2 2004-07-19 Q9H9A6 LRC40_HUMAN LRRC40 Leucine-rich repeat-containing protein 40 602 68.3 1 0 0 0 1 2 2006-03-07 Q9HAH7 FBRS_HUMAN FBRS Probable fibrosin-1 460 48.4 16 0 0 0 1 2 2004-07-19 Q9NPU4 CN132_HUMAN C14orf132 Uncharacterized protein C14orf132 83 8.8 14 Membrane 1 0 0 3 2 2004-05-24 Q9NQ39 RS10L_HUMAN RPS10P5 Putative ribosomal protein eS10-like 176 20.1 0 0 0 5 2 2008-09-02 Q9NU53 GINM1_HUMAN GINM1 Glycoprotein integral membrane protein 1 330 36.8 6 Membrane 1 0 0 1 2 2005-07-05 Q9NUB4 CT141_HUMAN C20orf141 Uncharacterized protein C20orf141 165 17.4 20 Membrane 1 0 0 1 2 2003-01-10 Q9P1G2 RBAS1_HUMAN RBM12B-AS1 Putative uncharacterized protein encoded by RBM12B-AS1 102 11.4 0 0 0 5 2 2007-01-09 Q9P217 ZSWM5_HUMAN ZSWIM5 Zinc finger SWIM domain-containing protein 5 1185 130.6 1 0 0 0 1 2 2004-01-16 Q9P2W6 CK021_HUMAN C11orf21 Uncharacterized protein C11orf21 132 14.4 11 Cytoplasm 0 0 0 2 2 2002-05-02 Q9ULI1 NWD2_HUMAN NWD2 NACHT and WD repeat domain-containing protein 2 1742 197.5 4 0 0 0 1 2 2008-02-26 A0A096LP49 CC187_HUMAN CCDC187 Coiled-coil domain-containing protein 187 1063 114.9 9 0 0 0 1 2 2016-02-17 A0A096LPK9 ORN4C_HUMAN OR4N4C Olfactory receptor 4N4C 316 35.7 15 Membrane 7 0 0 3 2 2020-12-02 A0A0A0MT89 KJ01_HUMAN IGKJ1 Immunoglobulin kappa joining 1 12 1.4 2 Secreted; Cell membrane 0 0 0 4 2 2017-03-15 A0A0B4J2A2 PAL4C_HUMAN PPIAL4C Peptidyl-prolyl cis-trans isomerase A-like 4C 164 18.2 1 5.2.1.8 Cytoplasm 0 0 0 2 2 2015-10-14 A0A0G2JMD5 PRA33_HUMAN PRAMEF33 PRAME family member 33 474 55.1 1 0 0 0 3 2 2017-07-05 A0A1B0GTD5 SMI11_HUMAN SPMIP11 Sperm microtubule inner protein 11 131 15.6 12 Cytoplasm 0 0 0 1 2 2017-08-30 A0A1B0GTL2 CT204_HUMAN C20orf204 Uncharacterized protein C20orf204 189 20.9 20 0 0 0 1 2 2018-03-28 A0A1B0GTS1 HSFX4_HUMAN HSFX4 Heat shock transcription factor, X-linked member 4 333 37.2 X Nucleus 0 0 0 3 2 2017-06-07 A0A1B0GUA7 TEX51_HUMAN TEX51 Testis-expressed protein 51 166 18.8 2 Membrane 1 0 0 3 2 2017-08-30 A0A1B0GVB3 CG078_HUMAN C7orf78 Putative uncharacterized protein C7orf78 256 30.4 7 0 0 0 4 2 2024-05-29 A0A1B0GVG4 CC194_HUMAN CCDC194 Coiled-coil domain-containing protein 194 234 25 19 0 0 0 3 2 2017-09-27 A0A1B0GVK7 F240A_HUMAN FAM240A Protein FAM240A 83 10.4 3 0 0 0 3 2 2017-09-27 A0A1B0GVV1 SIM35_HUMAN SMIM35 Small integral membrane protein 35 85 9.4 11 Membrane 1 0 0 3 2 2018-02-28 A0A1B0GW64 SIM33_HUMAN SMIM33 Small integral membrane protein 33 132 14.1 5 Membrane 1 0 0 3 2 2018-02-28 A0A1B0GWB2 PRT1B_HUMAN PRRT1B Proline rich transmembrane protein 1B 263 26.8 9 Membrane 2 0 0 1 2 2018-02-28 A0A1B0GWH6 LSP1N_HUMAN LASP1NB LASP1 neighbor protein 25 2.9 17 Membrane 1 0 0 3 2 2023-05-03 A0A1W2PPH5 TFLM_HUMAN TAF11L13 TATA-box-binding protein-associated factor 11-like protein 13 198 21.9 5 0 0 0 2 2 2022-08-03 A0A1W2PQ72 MSD7_HUMAN MSANTD7 Myb/SANT-like DNA-binding domain-containing protein 7 361 39.8 10 0 0 0 1 2 2022-10-12 A0A1W2PR95 IGB1C_HUMAN IGBP1C Immunoglobulin-binding protein 1 family member C 340 39.2 17 0 0 0 1 2 2023-02-22 A0A286YEV6 SCGR4_HUMAN SCYGR4 Small cysteine and glycine repeat-containing protein 4 105 9.8 2 0 0 0 1 2 2018-10-10 A0A286YF01 SCGR7_HUMAN SCYGR7 Small cysteine and glycine repeat-containing protein 7 96 9 2 0 0 0 1 2 2018-10-10 A0A286YFB4 SCGR2_HUMAN SCYGR2 Small cysteine and glycine repeat-containing protein 2 120 10.8 2 0 0 0 1 2 2018-10-10 A0A286YFG1 SCGR8_HUMAN SCYGR8 Small cysteine and glycine repeat-containing protein 8 108 10.1 2 0 0 0 1 2 2018-10-10 A0A2R8Y4Y8 OSP4B_HUMAN OOSP4B Oocyte-secreted protein 4B 160 18.4 11 Secreted 0 0 0 3 2 2018-10-10 A0A2R8YCJ5 SIM41_HUMAN SMIM41 Small integral membrane protein 41 93 9.3 12 Membrane 1 0 0 1 2 2019-01-16 A0A3B3IRV3 MCTS2_HUMAN MCTS2 Malignant T-cell-amplified sequence 2 181 20.3 20 Cytoplasm 0 0 0 1 2 2022-05-25 A0A3B3IT33 TR51G_HUMAN TRIM51G Tripartite motif-containing protein 51G 452 53 11 0 0 0 1 2 2022-02-23 A0A3B3IU46 RMACL_HUMAN RAMACL RNA guanine-N7 methyltransferase-activating subunit-like protein 118 14.4 6 Nucleus 0 0 0 1 2 2023-02-22 A0A494C0Z2 SPD13_HUMAN SPDYE13 Speedy protein E13 265 31.5 7 0 0 0 3 2 2020-12-02 A0PG75 PLS5_HUMAN PLSCR5 Phospholipid scramblase family member 5 271 30 3 0 0 0 2 2 2007-07-10 A2RUQ5 CQ102_HUMAN TMEM132E-DT Uncharacterized protein TMEM132E-DT 167 17.8 0 0 0 1 2 2008-09-02 A4D1F6 LRRD1_HUMAN LRRD1 Leucine-rich repeat and death domain-containing protein 1 860 98 7 0 0 0 1 2 2008-03-18 A4D263 SMIP7_HUMAN SPMIP7 Protein SPMIP7 438 49.7 7 0 0 0 1 2 2008-04-29 A4QPB2 LRP5L_HUMAN LRP5L Low-density lipoprotein receptor-related protein 5-like protein 252 28.5 22 0 0 0 2 2 2007-07-10 A6NC57 ANR62_HUMAN ANKRD62 Ankyrin repeat domain-containing protein 62 917 106.4 18 0 0 0 2 2 2008-04-08 A6NC97 ARB2P_HUMAN ARB2BP Putative protein ARB2BP 362 42 Membrane 1 0 0 5 2 2008-05-20 A6NCL7 AN33B_HUMAN ANKRD33B Ankyrin repeat domain-containing protein 33B 494 54 5 0 0 0 1 2 2008-04-08 A6NCN8 TEX52_HUMAN TEX52 Testis-expressed protein 52 305 35.3 12 0 0 0 1 2 2008-09-02 A6NCQ9 RN222_HUMAN RNF222 RING finger protein 222 220 23.8 17 Membrane 1 0 0 1 2 2008-04-08 A6NDL7 MT21E_HUMAN METTL21EP Methyltransferase-like protein 21E 214 24.5 13 2.1.1.- 0 0 0 3 2 2008-04-08 A6NE02 BTBDH_HUMAN BTBD17 BTB/POZ domain-containing protein 17 478 52.5 17 Secreted 0 0 0 1 2 2008-06-10 A6NFF2 NP1L6_HUMAN NAP1L6P Putative nucleosome assembly protein 1-like 6 107 12 0 0 0 5 2 2008-02-05 A6NGG3 CI092_HUMAN LINC03041 Putative uncharacterized protein encoded by LINC03041 77 8.5 9 0 0 0 4 2 2008-02-05 A6NGK3 GAG10_HUMAN GAGE10 G antigen 10 116 12.7 X 0 0 0 1 2 2008-05-20 A6NGR9 MROH6_HUMAN MROH6 Maestro heat-like repeat-containing protein family member 6 719 77.2 8 0 0 0 1 2 2008-02-26 A6NGY1 FRG2C_HUMAN FRG2C Protein FRG2-like-2 282 30.8 3 Nucleus 0 0 0 3 2 2007-09-11 A6NGZ8 SMIM9_HUMAN SMIM9 Small integral membrane protein 9 99 10.8 X Cell membrane 1 0 0 3 2 2008-09-02 A6NH21 SERC4_HUMAN SERINC4 Serine incorporator 4 518 56.9 15 Membrane 10 0 0 2 2 2008-05-20 A6NHN6 NPB15_HUMAN NPIPB15 Nuclear pore complex-interacting protein family member B15 443 51.3 16 Secreted 0 0 0 1 2 2009-03-24 A6NJJ6 CS067_HUMAN C19orf67 UPF0575 protein C19orf67 358 39.8 19 0 0 0 3 2 2008-04-29 A6NKP2 D42E2_HUMAN SDR42E2 Putative short-chain dehydrogenase/reductase family 42E member 2 422 46.9 16 1.1.1.- 0 0 0 3 2 2008-05-20 A6NKX4 S22AV_HUMAN SLC22A31 Putative solute carrier family 22 member 31 556 58.8 16 Membrane 12 0 0 1 2 2008-05-20 A6NLX4 TM210_HUMAN TMEM210 Transmembrane protein 210 147 15.5 9 Membrane; Cytoplasmic vesicle 1 0 0 1 2 2008-04-08 A6NM36 LRC30_HUMAN LRRC30 Leucine-rich repeat-containing protein 30 301 34 18 0 0 0 4 2 2007-11-13 A6NM62 LRC53_HUMAN LRRC53 Leucine-rich repeat-containing protein 53 1247 140.7 1 Membrane 1 0 0 1 2 2008-02-05 A6NMA1 TR5OS_HUMAN TRPC5OS Putative uncharacterized protein TRPC5OS 111 12.3 X 0 0 0 1 2 2008-09-02 A6NMK7 CPS4L_HUMAN CPSF4L Putative cleavage and polyadenylation specificity factor subunit 4-like protein 179 20.7 17 0 0 0 1 2 2008-02-05 A8MQB3 CQ051_HUMAN LINC02693 Putative uncharacterized protein LINC02693 221 24.3 0 0 0 5 2 2008-04-29 A8MUP6 GS1L2_HUMAN GSG1L2 Germ cell-specific gene 1-like protein 2 293 32.4 17 Membrane 4 0 0 3 2 2008-07-22 A8MUZ8 Z705G_HUMAN ZNF705G Putative zinc finger protein 705G 300 34.8 8 Nucleus 0 0 0 2 2 2008-07-01 A8MWV9 SM34A_HUMAN SMIM34 Small integral membrane protein 34 139 15 10 Membrane 1 0 0 1 2 2008-09-02 A8MXV6 CD15L_HUMAN CDRT15L2 CMT1A duplicated region transcript 15 protein-like protein 281 30.1 17 Membrane 1 0 0 2 2 2008-09-02 A8MZA4 GG6L6_HUMAN GOLGA6L6 Golgin subfamily A member 6-like protein 6 724 91 15 0 0 0 3 2 2008-04-29 A8MZH6 OOSP1_HUMAN OOSP1 Putative oocyte-secreted protein 1 homolog 123 14.4 Secreted 0 0 0 5 2 2008-07-22 B0FP48 UPK3L_HUMAN UPK3BL1 Uroplakin-3b-like protein 1 263 28.4 7 Membrane 1 0 0 2 2 2009-05-26 B1AL46 NTM2E_HUMAN NUTM2E NUT family member 2E 878 94 10 0 0 0 3 2 2008-06-10 B1ANH7 IBADT_HUMAN IBA57-DT Putative uncharacterized protein IBA57-DT 110 12.2 0 0 0 5 2 2011-07-27 B5MD39 GGTL3_HUMAN GGTLC3 Glutathione hydrolase light chain 3 225 24.1 22 0 0 0 3 2 2008-11-25 B6SEH8 ERVV1_HUMAN ERVV-1 Endogenous retrovirus group V member 1 Env polyprotein 477 52.6 19 Membrane 1 0 0 2 2 2011-06-28 B7Z1M9 C2D4D_HUMAN C2CD4D C2 calcium-dependent domain-containing protein 4D 353 37.6 1 0 0 0 1 2 2010-06-15 C0HMG9 PLUM_HUMAN Pluripotency-associated Lin28b uORF-encoded microprotein 87 9.8 Cytoplasm 0 0 0 3 2 2026-06-10 C9JJ37 BTBDJ_HUMAN BTBD19 BTB/POZ domain-containing protein 19 291 32.4 1 0 0 0 1 2 2010-05-18 D6RF30 GOG8K_HUMAN GOLGA8K Golgin subfamily A member 8K 630 71.6 15 0 0 0 3 2 2013-01-09 E7ERA6 RN223_HUMAN RNF223 RING finger protein 223 249 26.6 1 Membrane 1 0 0 1 2 2011-06-28 H0Y7S4 PRA26_HUMAN PRAMEF26 PRAME family member 26 478 55.4 1 0 0 0 3 2 2013-12-11 H3BU77 CC179_HUMAN CCDC179 Coiled-coil domain-containing protein 179 68 8.1 11 0 0 0 1 2 2013-03-06 H3BUK9 POTB2_HUMAN POTEB2 POTE ankyrin domain family member B2 544 61.7 15 0 0 0 3 2 2013-07-24 O14603 PRY_HUMAN PRY PTPN13-like protein, Y-linked 147 16.5 Y 0 0 0 1 2 2002-12-13 O14683 P5I11_HUMAN TP53I11 Tumor protein p53-inducible protein 11 189 21.1 11 Membrane 4 0 0 1 2 2000-05-30 O43304 S14L5_HUMAN SEC14L5 SEC14-like protein 5 696 78.9 16 0 0 0 1 2 2008-05-20 O75071 EFC14_HUMAN EFCAB14 EF-hand calcium-binding domain-containing protein 14 495 55 1 0 0 0 1 2 2003-10-10 O95177 GAAS1_HUMAN GAS8-AS1 Uncharacterized protein GAS8-AS1 125 12.6 0 0 0 5 2 2001-01-24 O95397 PKHA9_HUMAN PLEKHA8P1 Putative protein PLEKHA9 391 43.5 0 0 0 5 2 2007-10-02 O95561 CA105_HUMAN C1orf105 Uncharacterized protein C1orf105 183 21.2 1 0 0 0 1 2 2006-10-03 P02728 GLEM_HUMAN Erythrocyte membrane glycopeptide 10 1 0 0 0 1 2 1986-07-21 P02729 GLUR_HUMAN Urine glycopeptide 8 0.9 0 0 0 1 2 1986-07-21 P0C7L1 ISK8_HUMAN SPINK8 Serine protease inhibitor Kazal-type 8 97 10.8 3 Secreted 0 0 0 3 2 2008-05-20 P0C7P2 RFL3S_HUMAN RFPL3S Putative protein RFPL3S 107 11.7 0 0 0 2 2 2008-06-10 P0C7T8 TM253_HUMAN TMEM253 Transmembrane protein 253 217 23.5 14 Membrane 4 0 0 1 2 2008-07-22 P0C7W0 PRR29_HUMAN PRR29 Proline-rich protein 29 189 20.7 17 0 0 0 1 2 2008-07-22 P0C7X0 F90AO_HUMAN FAM90A24 Protein FAM90A24 464 49.8 8 0 0 0 1 2 2008-07-22 P0C854 CECR9_HUMAN CECR9 Putative cat eye syndrome critical region protein 9 216 23.6 Secreted 0 0 0 5 2 2008-09-02 P0CJ68 HMN1_HUMAN MTRNR2L1 Humanin-like 1 24 2.7 17 Secreted; Cytoplasm 0 0 0 2 2 2011-02-08 P0CJ70 HMN3_HUMAN MTRNR2L3 Humanin-like 3 24 2.8 20 Secreted; Cytoplasm 0 0 0 2 2 2011-02-08 P0CJ73 HMN6_HUMAN MTRNR2L6 Humanin-like 6 24 2.7 7 Secreted; Cytoplasm 0 0 0 2 2 2011-02-08 P0CL85 ST3L3_HUMAN STAG3L3 STAG3-like protein 3 134 15.6 Nucleus 0 0 0 2 2 2011-05-03 P0CV98 TSPY3_HUMAN TSPY3 Testis-specific Y-encoded protein 3 308 35.1 Y Cytoplasm; Nucleus 0 0 0 3 2 2011-05-03 P0CW00 TSPY8_HUMAN TSPY8 Testis-specific Y-encoded protein 8 308 35.1 Y Cytoplasm; Nucleus 0 0 0 3 2 2011-05-03 P0DJ93 SIM13_HUMAN SMIM13 Small integral membrane protein 13 91 10.4 6 Membrane 1 0 0 1 2 2011-12-14 P0DJH9 RD3L_HUMAN RD3L Protein RD3-like 198 23.2 14 0 0 0 4 2 2012-05-16 P0DMB2 CH088_HUMAN C8orf88 Uncharacterized protein C8orf88 117 13.4 8 0 0 0 1 2 2014-01-22 P0DMR3 AT8OS_HUMAN ATXN8OS Putative protein ATXN8OS 200 22.8 Cytoplasm 0 0 0 5 2 2015-01-07 P0DO92 ENOL_HUMAN CDIPTOSP Putative protein T-ENOL 83 9 0 0 0 1 2 2016-05-11 P0DP75 M14OS_HUMAN MED14OS Putative uncharacterized protein MED14OS 135 14.3 0 0 0 5 2 2017-07-05 P0DPF2 NBPFK_HUMAN NBPF20 NBPF family member NBPF20 5207 595.7 1 Cytoplasm 0 0 0 1 2 2018-03-28 P0DPI3 CENL2_HUMAN CENPVL2 Centromere protein V-like protein 2 272 29.9 X 0 0 0 3 2 2018-07-18 P0DSO1 F246C_HUMAN FAM246C Protein FAM246C 240 26.2 0 0 0 3 2 2020-08-12 P0DX00 GG6LX_HUMAN GOLGA6L24 Golgin subfamily A member 6-like protein 24 832 104.8 15 0 0 0 3 2 2022-12-14 P61575 RECK8_HUMAN ERVK-8 Endogenous retrovirus group K member 8 Rec protein 105 11.8 Cytoplasm; Nucleus 0 0 0 1 2 2004-05-24 P61580 NP10_HUMAN ERVK-10 Endogenous retrovirus group K member 10 Np9 protein 75 8.9 Nucleus 0 0 0 1 2 2004-05-24 P86478 PR20E_HUMAN PRR20E Proline-rich protein 20E 221 23.3 13 0 0 0 1 2 2010-04-20 Q08AI8 MB214_HUMAN MAB21L4 Protein mab-21-like 4 447 49.6 2 0 0 0 1 2 2007-05-29 Q0P641 CB080_HUMAN C2orf80 Uncharacterized protein C2orf80 193 22 2 0 0 0 2 2 2008-03-18 Q0P670 SPEM2_HUMAN SPEM2 Uncharacterized protein SPEM2 501 57.1 17 Membrane 1 0 0 1 2 2007-05-15 Q13670 PM2PB_HUMAN PMS2P11 Putative postmeiotic segregation increased 2-like protein 11 270 28.6 0 0 0 5 2 2007-11-13 Q1A5X7 WHAL1_HUMAN WHAMMP3 Putative WASP homolog-associated protein with actin, membranes and microtubules-like protein 1 153 18.1 0 0 0 5 2 2008-02-05 Q1AE95 T183B_HUMAN TMEM183BP Putative transmembrane protein 183BP 376 42.9 Membrane 1 0 0 5 2 2007-03-06 Q2M243 CCD27_HUMAN CCDC27 Coiled-coil domain-containing protein 27 656 75.4 1 0 0 0 1 2 2006-05-02 Q30KQ7 DB113_HUMAN DEFB113 Beta-defensin 113 82 9.6 6 Secreted 0 0 0 3 2 2005-12-20 Q3C1V1 CK091_HUMAN C11orf91 Uncharacterized protein C11orf91 193 20.5 11 0 0 0 1 2 2008-06-10 Q3LHN1 KR213_HUMAN KRTAP21-3 Keratin-associated protein 21-3 58 6.5 21 0 0 0 3 2 2009-10-13 Q3LI54 KR198_HUMAN KRTAP19-8 Keratin-associated protein 19-8 63 6.9 21 0 0 0 3 2 2007-10-23 Q3LI60 KR203_HUMAN KRTAP20-3 Keratin-associated protein 20-3 44 4.9 21 0 0 0 3 2 2007-10-23 Q3LI68 KR222_HUMAN KRTAP22-2 Keratin-associated protein 22-2 45 5.2 21 0 0 0 3 2 2008-05-20 Q3SXM0 DC4L1_HUMAN DCAF4L1 DDB1- and CUL4-associated factor 4-like protein 1 396 44.3 4 Cytoplasm 0 0 0 1 2 2007-05-29 Q495Z4 ASAS1_HUMAN ASB16-AS1 Putative uncharacterized protein ASB16-AS1 193 20.1 0 0 0 5 2 2007-05-15 Q49AS3 L37A5_HUMAN LRRC37A5P Putative protein LRRC37A5P 106 12.6 0 0 0 5 2 2007-03-20 Q4AC99 1A1L2_HUMAN ACCSL Probable inactive 1-aminocyclopropane-1-carboxylate synthase-like protein 2 568 65.2 11 0 0 0 1 2 2008-05-20 Q4G0G2 H1AS1_HUMAN H1-10-AS1 Putative uncharacterized protein H1-10-AS1 97 11 0 0 0 5 2 2006-12-12 Q52LC2 VAS1L_HUMAN ATP6AP1L V-type proton ATPase subunit S1-like protein 224 25.3 5 Membrane 1 0 0 2 2 2008-07-01 Q538Z0 LUZP6_HUMAN LUZP6 Leucine zipper protein 6 58 6.4 0 0 0 1 2 2008-02-05 Q53RE8 ANR39_HUMAN ANKRD39 Ankyrin repeat domain-containing protein 39 183 19.7 2 0 0 0 1 2 2006-06-27 Q5BKY6 YV018_HUMAN Putative uncharacterized protein DKFZp434K191 102 10.9 0 0 0 1 2 2008-02-26 Q5EBN2 TRI61_HUMAN TRIM61 Putative tripartite motif-containing protein 61 209 24 4 0 0 0 1 2 2007-01-23 Q5H9L2 TCAL5_HUMAN TCEAL5 Transcription elongation factor A protein-like 5 206 23.3 X Nucleus 0 0 0 1 2 2006-05-30 Q5HYW3 RTL5_HUMAN RTL5 Retrotransposon Gag-like protein 5 569 64.7 X 0 0 0 1 2 2006-10-31 Q5JQD4 PYY3_HUMAN PYY3 Putative peptide YY-3 70 7.8 Secreted 0 0 0 5 2 2008-06-10 Q5JSQ8 KHDCL_HUMAN KHDC1L KHDC1-like protein 128 14.5 6 0 0 0 1 2 2010-07-13 Q5JTB6 PLAC9_HUMAN PLAC9 Placenta-specific protein 9 97 10.3 10 Secreted 0 0 0 1 2 2006-11-28 Q5JTN6 WDR38_HUMAN WDR38 WD repeat-containing protein 38 314 34.3 9 0 0 0 1 2 2007-07-10 Q5JUQ0 FA78A_HUMAN FAM78A Protein FAM78A 283 32 9 0 0 0 1 2 2006-12-12 Q5JUR7 TEX30_HUMAN TEX30 Testis-expressed protein 30 227 25.6 13 0 0 0 1 2 2007-02-06 Q5JVX7 CA141_HUMAN C1orf141 Uncharacterized protein C1orf141 400 46.1 1 0 0 0 1 2 2007-07-10 Q5JXB2 UE2NL_HUMAN UBE2NL Putative ubiquitin-conjugating enzyme E2 N-like 153 17.4 0 0 0 1 2 2007-01-09 Q5MJ08 SPXN4_HUMAN SPANXN4 Sperm protein associated with the nucleus on the X chromosome N4 99 11.2 X 0 0 0 1 2 2007-05-01 Q5SVZ6 ZMYM1_HUMAN ZMYM1 Zinc finger MYM-type protein 1 1142 128.7 1 Nucleus 0 0 0 1 2 2005-09-27 Q5SZB4 CI050_HUMAN C9orf50 Uncharacterized protein C9orf50 431 47.6 9 Cytoplasm 0 0 0 2 2 2007-07-10 Q5T0Z8 CF132_HUMAN C6orf132 Uncharacterized protein C6orf132 1188 124 6 0 0 0 1 2 2008-02-26 Q5T2Q4 CCYL2_HUMAN CCNYL2 Cyclin-Y-like protein 2 361 41.3 0 0 0 3 2 2007-12-04 Q5T4I8 CF052_HUMAN C6orf52 Putative uncharacterized protein C6orf52 152 17.4 6 0 0 0 2 2 2007-07-24 Q5T6C5 AT7L2_HUMAN ATXN7L2 Ataxin-7-like protein 2 722 77.2 1 0 0 0 1 2 2007-02-20 Q5T6M2 CF122_HUMAN LINC00242 Putative uncharacterized protein encoded by LINC00242 205 23 0 0 0 5 2 2005-07-19 Q5T8R8 DOAS1_HUMAN DOCK8-AS1 Uncharacterized protein DOCK8-AS1 295 31.2 0 0 0 5 2 2005-07-19 Q5TBK1 N42L1_HUMAN N4BP2L1 NEDD4-binding protein 2-like 1 243 29 13 0 0 0 1 2 2008-02-26 Q5TYW2 A20A1_HUMAN ANKRD20A1 Ankyrin repeat domain-containing protein 20A1 823 94 9 0 0 0 2 2 2006-06-27 Q5U4P2 ASPH1_HUMAN ASPHD1 Aspartate beta-hydroxylase domain-containing protein 1 390 41.1 16 1.14.11.- Membrane 1 0 0 1 2 2006-10-31 Q5U5X8 F222A_HUMAN FAM222A Protein FAM222A 452 46.8 12 0 0 0 1 2 2007-02-06 Q5VSR9 SPXN1_HUMAN SPANXN1 Sperm protein associated with the nucleus on the X chromosome N1 72 8.3 X 0 0 0 3 2 2007-05-01 Q5VT98 PRA20_HUMAN PRAMEF20 PRAME family member 20 475 54.8 1 0 0 0 3 2 2007-06-12 Q5VU92 DC121_HUMAN DCAF12L1 DDB1- and CUL4-associated factor 12-like protein 1 463 51.2 X 0 0 0 1 2 2007-10-02 Q5VV16 FX4L5_HUMAN FOXD4L5 Forkhead box protein D4-like 5 416 45.8 9 Nucleus 0 0 0 3 2 2007-09-11 Q5VZR2 NTM2G_HUMAN NUTM2G NUT family member 2G 741 79 9 0 0 0 3 2 2006-12-12 Q69YZ2 T200B_HUMAN TMEM200B Transmembrane protein 200B 307 32.8 1 Membrane 2 0 0 1 2 2008-02-05 Q6IPW1 CK071_HUMAN C11orf71 Uncharacterized protein C11orf71 123 13.2 11 0 0 0 1 2 2007-02-06 Q6MZM9 PRR27_HUMAN PRR27 Proline-rich protein 27 219 22.7 4 Secreted 0 0 0 1 2 2008-06-10 Q6PDB4 ZN880_HUMAN ZNF880 Zinc finger protein 880 577 66.8 19 0 0 0 1 2 2008-03-18 Q6UXU6 TMM92_HUMAN TMEM92 Transmembrane protein 92 159 17.2 17 Membrane 1 0 0 1 2 2006-10-03 Q6X4T0 CL054_HUMAN C12orf54 Uncharacterized protein C12orf54 127 14.5 12 0 0 0 2 2 2007-02-06 Q6XXX2 CU024_HUMAN LINC00114 Putative uncharacterized protein encoded by LINC00114 140 15.8 0 0 0 5 2 2006-06-27 Q6ZMS4 ZN852_HUMAN ZNF852 Zinc finger protein 852 543 62.1 3 Nucleus 0 0 0 1 2 2008-04-29 Q6ZQN5 FOXI2_HUMAN FOXI2 Forkhead box protein I2 318 33 10 Nucleus 0 0 0 1 2 2008-02-26 Q6ZQT0 YD023_HUMAN Putative uncharacterized protein FLJ45035 140 15.5 0 0 0 5 2 2008-07-01 Q6ZSR3 YO027_HUMAN Putative uncharacterized protein FLJ45275, mitochondrial 168 17.9 Mitochondrion 0 0 0 5 2 2008-07-01 Q6ZSR9 YJ005_HUMAN Uncharacterized protein FLJ45252 355 38 0 0 0 1 2 2008-03-18 Q6ZST2 COLDT_HUMAN COL25A1-DT Putative uncharacterized protein COL25A1-DT 131 14.4 0 0 0 5 2 2007-09-11 Q6ZST4 LCNL1_HUMAN LCNL1 Lipocalin-like 1 protein 164 17.8 9 0 0 0 2 2 2008-09-02 Q6ZSU1 C2G1P_HUMAN CYP2G1P Putative inactive cytochrome P450 2G1 146 16.7 0 0 0 5 2 2008-06-10 Q6ZT77 ZN826_HUMAN ZNF826P Putative zinc finger protein 826 177 20.6 Nucleus 0 0 0 5 2 2008-03-18 Q6ZUB0 S31D4_HUMAN SPATA31D4 Spermatogenesis-associated protein 31D4 917 102.3 9 Membrane 1 0 0 1 2 2008-04-29 Q6ZUF6 NC336_HUMAN LINC00336 Putative uncharacterized protein encoded by LINC00336 198 20.9 0 0 0 5 2 2008-09-02 Q6ZV70 LANC3_HUMAN LANCL3 LanC-like protein 3 420 46.3 X 0 0 0 1 2 2007-05-01 Q6ZVK1 T179A_HUMAN TMEM179 Transmembrane protein 179 233 26.4 14 Membrane 4 0 0 1 2 2006-10-31 Q71RG6 YH006_HUMAN Putative chemokine-related protein FP248 208 21.4 Secreted 0 0 0 5 2 2008-04-29 Q7Z5D8 NANGN_HUMAN NANOGNB NANOG neighbor homeobox 188 22.8 12 Nucleus 0 0 0 2 2 2008-06-10 Q86TI4 WDR86_HUMAN WDR86 WD repeat-containing protein 86 376 40.7 7 0 0 0 1 2 2008-02-26 Q86X40 LRC28_HUMAN LRRC28 Leucine-rich repeat-containing protein 28 367 41.9 15 0 0 0 1 2 2007-01-23 Q86X59 CQ082_HUMAN LINC02875 Putative uncharacterized protein LINC02875 251 25.4 0 0 0 5 2 2007-04-17 Q86XI8 ZSWM9_HUMAN ZSWIM9 Uncharacterized protein ZSWIM9 627 70.1 19 0 0 0 1 2 2008-02-26 Q86Y27 BAGE5_HUMAN BAGE5 B melanoma antigen 5 43 4.7 Secreted 0 0 0 2 2 2003-10-03 Q86Y29 BAGE3_HUMAN BAGE3 B melanoma antigen 3 109 12.1 Secreted 0 0 0 2 2 2003-10-03 Q86Y30 BAGE2_HUMAN BAGE2 B melanoma antigen 2 109 12.1 Secreted 0 0 0 2 2 2003-10-03 Q8IVJ8 APRG1_HUMAN APRG1 APRG1 tumor suppressor candidate 170 18.5 Membrane 1 0 0 2 2 2007-05-29 Q8IWF9 CCD83_HUMAN CCDC83 Coiled-coil domain-containing protein 83 413 48.9 11 0 0 0 1 2 2007-05-29 Q8IXR9 CL056_HUMAN C12orf56 Uncharacterized protein C12orf56 622 71 12 0 0 0 2 2 2008-02-26 Q8IY45 AMN1_HUMAN AMN1 Protein AMN1 homolog 258 28.4 12 0 0 0 1 2 2007-05-29 Q8IYA2 C144C_HUMAN CCDC144CP Putative coiled-coil domain-containing protein 144C 1237 143.1 0 0 0 5 2 2007-12-04 Q8IZJ6 TDH_HUMAN TDH Inactive L-threonine 3-dehydrogenase, mitochondrial 230 25.4 Mitochondrion 0 0 0 2 2 2007-08-21 Q8IZQ5 SELH_HUMAN SELENOH Selenoprotein H 122 13.5 11 0 0 0 1 2 2003-08-04 Q8N0W7 FMR1N_HUMAN FMR1NB FMR1 neighbor protein 255 29.2 X Membrane 2 0 0 1 2 2007-03-20 Q8N1P7 CRBG2_HUMAN CRYBG2 Beta/gamma crystallin domain-containing protein 2 1661 177.9 1 0 0 0 1 2 2007-05-01 Q8N2G6 ZCH24_HUMAN ZCCHC24 Zinc finger CCHC domain-containing protein 24 241 27 10 0 0 0 1 2 2007-02-06 Q8N2R8 FA43A_HUMAN FAM43A Protein FAM43A 423 45.8 3 0 0 0 1 2 2004-08-16 Q8N431 RGF1C_HUMAN RASGEF1C Ras-GEF domain-containing family member 1C 466 52.9 5 0 0 0 1 2 2007-08-21 Q8N4L4 SPEM1_HUMAN SPEM1 Spermatid maturation protein 1 309 34.8 17 Membrane; Cytoplasm 1 0 0 1 2 2007-10-23 Q8N5S3 CMIP6_HUMAN CIMIP6 Ciliary microtubule inner protein 6 287 32.1 2 Cell projection 0 0 0 1 2 2008-04-29 Q8N5U0 CK042_HUMAN C11orf42 Uncharacterized protein C11orf42 333 36.4 11 Cell projection 0 0 0 1 2 2006-06-27 Q8N5W8 FA24B_HUMAN FAM24B Protein FAM24B 94 10.1 10 Secreted 0 0 0 1 2 2005-02-15 Q8N6G2 TEX26_HUMAN TEX26 Testis-expressed protein 26 289 33.6 13 0 0 0 1 2 2006-12-12 Q8N6N2 TTC9B_HUMAN TTC9B Tetratricopeptide repeat protein 9B 239 25.9 19 0 0 0 1 2 2007-07-10 Q8N6V4 CJ053_HUMAN C10orf53 UPF0728 protein C10orf53 93 10.4 10 0 0 0 1 2 2005-07-05 Q8N8A8 F169B_HUMAN FAM169BP Protein FAM169BP 192 21.4 0 0 0 2 2 2008-07-01 Q8N8I6 CQ055_HUMAN LINC00482 Putative uncharacterized protein encoded by LINC00482 264 28.3 0 0 0 5 2 2007-05-15 Q8N945 PRLD2_HUMAN PRELID2 PRELI domain-containing protein 2 189 21.9 5 0 0 0 1 2 2007-10-23 Q8N967 LRTM2_HUMAN LRTM2 Leucine-rich repeat and transmembrane domain-containing protein 2 370 41.2 12 Membrane 1 0 0 1 2 2006-12-12 Q8NA66 CNBD1_HUMAN CNBD1 Cyclic nucleotide-binding domain-containing protein 1 436 50.2 8 0 0 0 1 2 2007-06-26 Q8NAJ2 CI106_HUMAN LINC02913 Putative uncharacterized protein encoded by LINC02913 232 25 0 0 0 5 2 2006-03-21 Q8NBB2 STAS1_HUMAN ST20-AS1 Putative uncharacterized protein ST20-AS1 130 13.9 0 0 0 5 2 2008-05-20 Q8NCU4 CC191_HUMAN CCDC191 Coiled-coil domain-containing protein 191 936 110.6 3 0 0 0 1 2 2007-11-13 Q8NEL0 CCD54_HUMAN CCDC54 Coiled-coil domain-containing protein 54 328 37.9 3 0 0 0 1 2 2007-05-15 Q8NEX6 WFD11_HUMAN WFDC11 Protein WFDC11 87 10.3 20 Secreted 0 0 0 3 2 2002-12-06 Q8TBR4 ST3L4_HUMAN STAG3L4 Putative STAG3-like protein 4 150 17 0 0 0 5 2 2008-02-26 Q8TBZ9 TEX47_HUMAN TEX47 Testis-expressed protein 47 253 29.5 7 0 0 0 1 2 2008-02-26 Q8TCZ7 CU074_HUMAN LINC00308 Putative uncharacterized protein encoded by LINC00308 52 6 0 0 0 5 2 2004-03-15 Q8TD33 SG1C1_HUMAN SCGB1C1 Secretoglobin family 1C member 1 95 10.4 11 Secreted 0 0 0 3 2 2006-02-21 Q8TD90 MAGE2_HUMAN MAGEE2 Melanoma-associated antigen E2 523 60.4 X 0 0 0 1 2 2004-07-19 Q96AQ1 CC74A_HUMAN CCDC74A Coiled-coil domain-containing protein 74A 378 41.6 2 0 0 0 1 2 2007-02-06 Q96B54 ZN428_HUMAN ZNF428 Zinc finger protein 428 188 20.5 19 0 0 0 1 2 2007-12-04 Q96CP2 FWCH2_HUMAN FLYWCH2 FLYWCH family member 2 140 14.6 16 0 0 0 1 2 2008-02-05 Q96EE4 CC126_HUMAN CCDC126 Coiled-coil domain-containing protein 126 140 15.7 7 Secreted 0 0 0 1 2 2007-05-29 Q96EK9 KTI12_HUMAN KTI12 Protein KTI12 homolog 354 38.6 1 0 0 0 1 2 2007-05-01 Q96H35 RBM18_HUMAN RBM18 Probable RNA-binding protein 18 190 21.6 9 0 0 0 1 2 2006-10-31 Q96HZ7 URAS1_HUMAN URB1-DT Putative uncharacterized protein URB1-DT 61 6.5 0 0 0 5 2 2003-11-14 Q96KF2 PRAC1_HUMAN PRAC1 Small nuclear protein PRAC1 57 6 17 Nucleus 0 0 0 2 2 2007-12-04 Q96KT0 FAAS1_HUMAN FAM167A-AS1 Uncharacterized protein FAM167A-AS1 104 11.6 0 0 0 4 2 2005-07-19 Q96LR7 CMIP5_HUMAN CIMIP5 Ciliary microtubule inner protein 5 162 17.8 2 Cell projection 0 0 0 1 2 2007-10-23 Q96LS8 CB048_HUMAN C2orf48 Putative uncharacterized protein C2orf48 159 17.4 0 0 0 5 2 2006-12-12 Q96LZ2 MAGBA_HUMAN MAGEB10 Melanoma-associated antigen B10 347 39 X 0 0 0 1 2 2005-10-25 Q96MR7 OBAS1_HUMAN OBSCN-AS1 Putative uncharacterized protein OBSCN-AS1 158 17.5 0 0 0 5 2 2007-04-03 Q96MW1 CCD43_HUMAN CCDC43 Coiled-coil domain-containing protein 43 224 25.2 17 0 0 0 1 2 2006-05-16 Q96MZ0 GD1L1_HUMAN GDAP1L1 Ganglioside-induced differentiation-associated protein 1-like 1 367 42 20 0 0 0 1 2 2003-11-07 Q96N53 CK037_HUMAN PRDM10-DT Putative uncharacterized protein encoded by LINC00167 147 15.4 0 0 0 5 2 2006-10-03 Q96PQ5 IPP2L_HUMAN PPP1R2P1 Putative protein phosphatase inhibitor 2-like protein 1 205 22.9 0 0 0 5 2 2007-05-01 Q99440 CD006_HUMAN LINC01587 Uncharacterized protein encoded by LINC01587 93 10.5 0 0 0 1 2 2000-12-01 Q9BR11 ZSWM1_HUMAN ZSWIM1 Zinc finger SWIM domain-containing protein 1 485 55.1 20 0 0 0 1 2 2003-07-25 Q9BS92 NPS3B_HUMAN NIPSNAP3B Protein NipSnap homolog 3B 247 28.3 9 0 0 0 1 2 2001-09-26 Q9BWJ2 RHAS1_HUMAN RHPN1-AS1 Putative uncharacterized protein encoded by RHPN1-AS1 59 6.7 0 0 0 5 2 2007-01-09 Q9BYS8 LRRC2_HUMAN LRRC2 Leucine-rich repeat-containing protein 2 371 42.9 3 0 0 0 1 2 2002-10-10 Q9BZE7 EVG1_HUMAN C22orf23 UPF0193 protein EVG1 217 25 22 0 0 0 1 2 2002-04-16 Q9GZU0 CF062_HUMAN C6orf62 Uncharacterized protein C6orf62 229 27.1 6 0 0 0 1 2 2003-05-16 Q9GZY1 PBOV1_HUMAN PBOV1 Prostate and breast cancer overexpressed gene 1 protein 135 15.7 6 Cytoplasm; Nucleus 0 0 0 2 2 2005-12-20 Q9H489 TSY26_HUMAN TSPY26P Putative testis-specific Y-encoded-like protein 3 355 39.6 20 0 0 0 5 2 2003-08-15 Q9H4G8 DPH3B_HUMAN DPH3P1 Putative DPH3 homolog B 78 8.7 0 0 0 5 2 2003-04-04 Q9H606 PRORY_HUMAN PRORY Proline-rich protein, Y-linked 182 20 0 0 0 2 2 2008-09-02 Q9H8X3 CF208_HUMAN LINC00574 Putative uncharacterized protein LINC00574 128 13.6 0 0 0 5 2 2005-07-05 Q9H9R9 DBND1_HUMAN DBNDD1 Dysbindin domain-containing protein 1 158 17 16 0 0 0 1 2 2007-06-26 Q9HD87 CF050_HUMAN C6orf50 Putative uncharacterized protein C6orf50 102 12.4 Membrane 1 0 0 5 2 2006-10-31 Q9NQ32 CK016_HUMAN C11orf16 Uncharacterized protein C11orf16 467 51.6 11 0 0 0 1 2 2003-08-29 Q9NRJ2 GSAS1_HUMAN GSN-AS1 Putative uncharacterized protein GSN-AS1 163 17.7 0 0 0 5 2 2007-01-09 Q9NRP4 SDHF3_HUMAN SDHAF3 Succinate dehydrogenase assembly factor 3, mitochondrial 125 14.7 7 Mitochondrion matrix 0 0 0 1 2 2005-10-25 Q9NUC0 SRTD4_HUMAN SERTAD4 SERTA domain-containing protein 4 356 39.3 1 0 0 0 1 2 2008-01-15 Q9UHA2 S18L2_HUMAN SS18L2 SS18-like protein 2 77 8.8 3 0 0 0 1 2 2002-10-25 Q9UHL3 F153A_HUMAN FAM153A Protein FAM153A 310 34.7 5 0 0 0 1 2 2008-02-05 Q9Y442 CV024_HUMAN YWHAH-AS1 Putative uncharacterized protein YWHAH-AS1 160 17.7 Membrane 1 0 0 5 2 2005-07-05 Q9Y5L5 LENEP_HUMAN LENEP Lens epithelial cell protein LEP503 61 6.9 1 0 0 0 1 2 2000-05-30 S4R3P1 HMN13_HUMAN MTRNR2L13 Humanin-like 13 24 2.8 4 Secreted; Cytoplasm 0 0 0 3 2 2014-10-01 X6R8D5 CMIP3_HUMAN CIMIP3 Ciliary microtubule inner protein 3 112 12.8 6 Cytoplasm 0 0 0 1 2 2020-12-02 A0A0B4J1W7 NPIA9_HUMAN NPIPA9 Nuclear pore complex-interacting protein family member A9 369 42.1 16 0 0 0 3 1 2022-10-12 A0A0C4DGP1 SGSN1_HUMAN SMIM10L3 Small integral membrane protein 10-like protein 3 68 7.7 7 0 0 0 4 1 2024-05-29 A0A1B0GTK5 F236D_HUMAN FAM236D Protein FAM236D 79 8.7 X 0 0 0 3 1 2017-07-05 A0A1B0GUU1 CQ113_HUMAN C17orf113 Uncharacterized protein C17orf113 675 72.4 17 0 0 0 1 1 2017-09-27 A0A1B0GV22 F236B_HUMAN FAM236B Protein FAM236B 79 8.7 X 0 0 0 3 1 2017-05-10 A0A1B0GV96 CHD9N_HUMAN CHD9NB CHD9 neighbor protein 52 5.5 16 0 0 0 1 1 2023-02-22 A0A1B0GVH6 CM042_HUMAN C13orf42 Uncharacterized protein C13orf42 325 37.4 13 0 0 0 4 1 2018-01-31 A0A1W2PP97 THSD8_HUMAN THSD8 Thrombospondin type-1 domain-containing protein 8 115 13.2 19 0 0 0 3 1 2018-07-18 A0A286YFK9 SIM38_HUMAN SMIM38 Small integral membrane protein 38 51 5.8 11 Membrane 1 0 0 3 1 2019-02-13 A0A2R8Y2Y2 CHO90_HUMAN C8orf90 Uncharacterized protein C8orf90 192 20.4 8 0 0 0 4 1 2022-12-14 A0A3G1DJL1 SHLP5_HUMAN MT-RNR2 Small humanin-like peptide 5 24 2.6 MT 0 0 0 4 1 2026-01-28 A0A494C0Y3 F246A_HUMAN FAM246A Protein FAM246A 232 24.3 22 0 0 0 3 1 2020-08-12 A0A5F9ZH02 SIM42_HUMAN SMIM42 Small integral membrane protein 42 70 8 1 Membrane 1 0 0 3 1 2020-12-02 A2JGV3 TARP_HUMAN TRGC1 T-cell receptor gamma alternate reading frame protein 58 7.2 7 0 0 0 1 1 2023-02-22 A4D1N5 YG018_HUMAN Putative uncharacterized protein FLJ40288 150 16.7 0 0 0 2 1 2008-03-18 A6NFE3 EFC10_HUMAN EFCAB10 EF-hand calcium-binding domain-containing protein 10 127 14.7 7 0 0 0 1 1 2008-06-10 A6NNH2 F90AR_HUMAN FAM90A27P Protein FAM90A27P 459 49.6 0 0 0 1 1 2007-09-11 A8K554 ZN815_HUMAN ZNF815P Putative protein ZNF815 130 15.4 0 0 0 5 1 2008-07-01 A8MT66 YU005_HUMAN Putative uncharacterized protein ENSP00000383407 165 19.3 0 0 0 5 1 2008-09-02 A8MU93 CQ100_HUMAN C17orf100 Uncharacterized protein C17orf100 118 13 17 0 0 0 1 1 2008-06-10 A8MY62 BLML_HUMAN LACTBL1 Beta-lactamase-like protein 1 579 63.5 1 0 0 0 1 1 2008-07-22 A8MYZ5 IQCF6_HUMAN IQCF6 IQ domain-containing protein F6 107 13.1 3 0 0 0 1 1 2008-07-01 B3EWG5 FM25C_HUMAN FAM25C Protein FAM25C 89 9.3 10 0 0 0 3 1 2012-03-21 B5MCN3 S14L6_HUMAN SEC14L6 SEC14-like protein 6 397 45.4 22 0 0 0 1 1 2011-06-28 B9A014 F243A_HUMAN C21orf140 Uncharacterized protein C21orf140 251 29.2 21 0 0 0 2 1 2012-01-25 C9J3I9 CE058_HUMAN C5orf58 Putative uncharacterized protein C5orf58 81 9.2 5 0 0 0 1 1 2010-03-23 C9JFL3 PHGR1_HUMAN PHGR1 Proline, histidine and glycine-rich protein 1 82 7.7 15 0 0 0 1 1 2010-06-15 D0EPY3 SIM47_HUMAN SMIM47 Small integral membrane protein 47 28 3.3 19 Membrane 1 0 0 3 1 2023-02-22 F2Z398 LMO7D_HUMAN LMO7DN LMO7 downstream neighbor protein 122 13.3 0 0 0 2 1 2012-10-31 P0DKL9 A14EL_HUMAN ARL14EPL ARL14 effector protein-like 152 17.7 5 0 0 0 1 1 2012-10-03 P0DM63 NPIA8_HUMAN NPIPA8 Nuclear pore complex-interacting protein family member A8 369 42.2 16 0 0 0 3 1 2013-10-16 P0DMQ9 CH089_HUMAN C8orf89 Putative uncharacterized protein C8orf89 161 18.2 8 0 0 0 2 1 2014-11-26 P0DMU3 F231L_HUMAN FAM231A/C-like protein LOC102723383 169 18.3 0 0 0 3 1 2015-05-27 Q14602 ID2B_HUMAN ID2B Putative DNA-binding protein inhibitor ID-2B 36 4.1 0 0 0 5 1 2008-07-01 Q4KMX7 F106A_HUMAN FAM106A Protein FAM106A 169 18.8 0 0 0 2 1 2006-05-16 Q5VUE5 CA053_HUMAN C1orf53 Uncharacterized protein C1orf53 145 15.5 1 0 0 0 1 1 2007-01-09 Q6NUR6 R216L_HUMAN RNF216P1 Putative protein RNF216-like 42 5.1 0 0 0 5 1 2008-03-18 Q6UXV3 YV010_HUMAN Uncharacterized protein UNQ6126/PRO20091 157 16.9 Secreted 0 0 0 2 1 2006-10-17 Q6ZPA2 YS039_HUMAN Putative uncharacterized protein FLJ26174 131 13.5 0 0 0 2 1 2008-05-20 Q6ZQT7 YJ013_HUMAN Putative uncharacterized protein FLJ44672 251 25.2 0 0 0 2 1 2008-07-01 Q6ZS46 YF009_HUMAN Putative uncharacterized protein FLJ45840 218 22.2 0 0 0 5 1 2008-05-20 Q6ZS49 YQ050_HUMAN Putative uncharacterized protein FLJ45831 121 13.1 0 0 0 5 1 2008-09-02 Q6ZS92 YD022_HUMAN Putative uncharacterized protein FLJ45721 163 18.1 0 0 0 5 1 2008-07-01 Q6ZSV7 YF010_HUMAN Putative uncharacterized protein FLJ45177 163 16.9 0 0 0 2 1 2008-05-20 Q6ZV60 YL023_HUMAN LINC00173 Putative uncharacterized protein encoded by LINC00173 143 16.4 0 0 0 5 1 2008-09-02 Q6ZVH6 YK004_HUMAN Putative uncharacterized protein FLJ42569 145 15.8 0 0 0 2 1 2008-02-26 Q86TA4 YB049_HUMAN Putative uncharacterized protein FLJ44553 180 19.5 0 0 0 5 1 2008-07-01 Q8N1I8 CAAS1_HUMAN CACTIN-AS1 Putative uncharacterized protein encoded by CACTIN-AS1 211 22.7 0 0 0 2 1 2007-08-21 Q8N377 YJ004_HUMAN Putative uncharacterized protein LOC387726 158 15.6 0 0 0 5 1 2008-02-26 Q8N6K4 YP021_HUMAN Putative uncharacterized protein MGC34800 173 17.4 0 0 0 2 1 2008-04-08 Q8N6U2 CL033_HUMAN LINC00612 Putative uncharacterized protein encoded by LINC00612 182 18.4 0 0 0 5 1 2006-12-12 Q8N9P6 CI163_HUMAN C9orf163 Uncharacterized protein C9orf163 203 22.2 0 0 0 2 1 2007-05-29 Q8NFD4 YI018_HUMAN Uncharacterized protein FLJ76381 153 17 0 0 0 2 1 2008-04-29 Q8WWF1 CA054_HUMAN C1orf54 Uncharacterized protein C1orf54 131 14.9 1 Secreted 0 0 0 1 1 2006-10-03 Q8WXQ3 CN183_HUMAN LINC01599 Putative uncharacterized protein encoded by LINC01599 324 35.5 0 0 0 2 1 2010-03-23 Q8WY50 PLAC4_HUMAN PLAC4 Placenta-specific protein 4 150 16.7 0 0 0 2 1 2007-08-21 Q8WZ26 YS006_HUMAN Putative uncharacterized protein PP6455 134 14.8 0 0 0 2 1 2008-02-26 Q8WZ69 CK040_HUMAN C11orf40 Putative uncharacterized protein C11orf40 217 24.6 0 0 0 2 1 2006-12-12 Q96IR3 YV007_HUMAN Putative uncharacterized protein MGC15705 41 4.7 0 0 0 5 1 2006-10-31 Q96IT6 ARAS1_HUMAN ARHGAP5-AS1 Putative uncharacterized protein ARHGAP5-AS1 56 6.1 0 0 0 5 1 2005-07-19 Q96LM1 CL037_HUMAN LINC00615 Putative uncharacterized protein encoded by LINC00615 132 14.5 0 0 0 5 1 2006-12-12 Q96M42 CU129_HUMAN LINC00479 Putative uncharacterized protein encoded by LINC00479 142 15.2 0 0 0 5 1 2005-06-21 Q96MF0 YO028_HUMAN Putative uncharacterized protein LOC100506887 132 14.6 0 0 0 5 1 2006-12-12 Q96MF4 CC140_HUMAN CCDC140 Coiled-coil domain-containing protein 140 163 18.3 2 0 0 0 1 1 2007-12-04 Q96MH7 CE034_HUMAN C5orf34 Uncharacterized protein C5orf34 638 72.9 5 0 0 0 1 1 2007-07-24 Q96MT0 YJ006_HUMAN Putative uncharacterized protein FLJ31958 163 17 0 0 0 1 1 2008-03-18 Q9BZA0 TTY10_HUMAN TTTY10 Putative transcript Y 10 protein 68 7.8 0 0 0 5 1 2003-01-17 Q9H354 YJ001_HUMAN Putative uncharacterized protein PRO1933 126 14.7 Membrane 1 0 0 5 1 2007-09-11 Q9H7T3 CJ095_HUMAN C10orf95 Uncharacterized protein C10orf95 257 26.3 0 0 0 1 1 2005-07-05 Q9NZ38 IDAS1_HUMAN IDI2-AS1 Uncharacterized protein IDI2-AS1 188 21.3 0 0 0 2 1 2005-07-19 Q9P1J3 DHAS1_HUMAN DHRS4-AS1 Putative uncharacterized protein DHRS4-AS1 65 7.3 0 0 0 5 1 2003-10-03 A0A075B700 TJA31_HUMAN TRAJ31 T cell receptor alpha joining 31 18 2 14 Cell membrane 0 0 0 4 1 2020-06-17 A0A087WV53 SPEGN_HUMAN SPEGNB SPEG neighbor protein 238 26.1 2 0 0 0 4 1 2019-10-16 A0A096LPI5 GVQW2_HUMAN CCDC28A-AS1 Putative uncharacterized protein CCDC28A-AS1 108 12 0 0 0 4 1 2016-02-17 A0A0A0MT94 TJB22_HUMAN TRBJ2-2 T cell receptor beta joining 2-2 16 1.7 Cell membrane 0 0 0 4 1 2019-06-05 A0A0U1RRA0 ZNOS_HUMAN ZNF593OS Transmembrane protein ZNF593OS 63 6.9 1 Membrane 1 0 0 3 1 2021-02-10 A0A1B0GTJ6 SAXO3_HUMAN SAXO3 Stabilizer of axonemal microtubules 3 334 37.1 19 0 0 0 1 1 2023-09-13 A0A1B0GU33 TEX53_HUMAN TEX53 Testis-expressed protein 53 70 8.1 9 0 0 0 1 1 2018-01-31 A0A1B0GUA5 SIM32_HUMAN SMIM32 Small integral membrane protein 32 103 10.9 5 Membrane 1 0 0 3 1 2018-02-28 A0A1B0GUA6 CC195_HUMAN CCDC195 Coiled-coil domain-containing protein 195 201 21.9 2 0 0 0 4 1 2017-09-27 A0A1B0GUS0 CS085_HUMAN C19orf85 Uncharacterized protein C19orf85 222 23.9 19 0 0 0 2 1 2018-01-31 A0A1B0GVZ2 F240B_HUMAN FAM240B Protein FAM240B 78 9.7 9 0 0 0 3 1 2017-09-27 A0A1B0GW35 EXC1L_HUMAN EXOC1L Exocyst complex component 1-like 172 20.3 4 0 0 0 2 1 2018-01-31 A0A286YF18 SMI44_HUMAN SMIM44 Small integral membrane protein 44 149 16.1 19 Membrane 1 0 0 3 1 2022-02-23 A1L4Q6 YK033_HUMAN Putative uncharacterized protein FLJ41423 167 18 0 0 0 5 1 2008-05-20 A4D0Y5 CG077_HUMAN LINC03043 Uncharacterized protein encoded by LINC03043 90 10 7 0 0 0 4 1 2011-10-19 A6NDN8 UBIML_HUMAN Putative ubiquitin-like protein FUBI-like protein ENSP00000310146 102 10.9 0 0 0 4 1 2008-09-02 A6NEL3 F86C2_HUMAN FAM86C2P Putative protein FAM86C2P 165 18.5 2.1.1.- 0 0 0 5 1 2008-04-29 A6NHS1 YK042_HUMAN Putative uncharacterized protein ENSP00000347057 94 10.2 0 0 0 5 1 2008-07-01 A6NL46 YF016_HUMAN Putative UPF0607 protein ENSP00000332738 340 37.8 0 0 0 3 1 2008-07-01 A6NML5 TM212_HUMAN TMEM212 Transmembrane protein 212 194 21.4 3 Membrane 5 0 0 2 1 2008-06-10 A8MUA0 YB057_HUMAN Putative UPF0607 protein ENSP00000381514 341 37.8 0 0 0 3 1 2008-09-02 A8MWE9 EFCB8_HUMAN EFCAB8 EF-hand calcium-binding domain-containing protein 8 144 16.4 20 0 0 0 4 1 2008-06-10 A8MWP4 YU008_HUMAN Putative uncharacterized protein ENSP00000401716 228 24.5 0 0 0 5 1 2008-09-02 A8MX80 YM017_HUMAN Putative UPF0607 protein ENSP00000383144 341 37.6 0 0 0 3 1 2008-07-01 A8MZ25 YQ037_HUMAN Putative uncharacterized protein FLJ38767 164 18.1 0 0 0 5 1 2008-07-01 B1AMM8 CI107_HUMAN LINC00587 Putative uncharacterized protein encoded by LINC00587 73 8.6 0 0 0 5 1 2010-03-23 C9J6K1 CS081_HUMAN C19orf81 Putative uncharacterized protein C19orf81 198 22.4 19 0 0 0 1 1 2011-10-19 H0Y354 FA72C_HUMAN FAM72C Protein FAM72C 149 16.7 1 0 0 0 3 1 2013-11-13 H3BNL1 CMIP7_HUMAN CIMIP7 Ciliary microtubule inner protein 7 204 23.4 3 Cell projection 0 0 0 2 1 2013-09-18 O15544 GR6_HUMAN LINC01565 Protein GR6 149 16.1 0 0 0 2 1 1999-07-15 O60756 BCE1_HUMAN BCE1 Putative protein BCE-1 84 9.8 0 0 0 5 1 2000-05-30 P0C841 FA66E_HUMAN FAM66E Putative protein FAM66E 47 5.2 0 0 0 5 1 2008-09-02 P0CZ25 D10OS_HUMAN DNAH10OS Uncharacterized protein DNAH10OS 163 17.5 0 0 0 2 1 2011-07-27 P0DP71 F236C_HUMAN FAM236C Protein FAM236C 79 8.7 X 0 0 0 3 1 2017-07-05 P13985 HRES1_HUMAN HRES1 Putative HTLV-1-related endogenous sequence 223 24.3 0 0 0 5 1 2008-02-05 Q0P140 YA037_HUMAN Putative uncharacterized protein HSD52 79 8.4 0 0 0 5 1 2008-07-01 Q0VDD5 CQ091_HUMAN MIR22HG Putative uncharacterized protein encoded by MIR22HG 57 6.5 0 0 0 5 1 2008-02-05 Q3B7I2 CNPY1_HUMAN CNPY1 Protein canopy homolog 1 92 11 7 0 0 0 1 1 2008-02-26 Q3ZM63 ETDA_HUMAN ETDA Embryonic testis differentiation protein homolog A 59 7 X 0 0 0 4 1 2018-10-10 Q53H64 AK40L_HUMAN ANKRD40CL Putative ANKRD40 C-terminal-like protein 114 13.4 17 0 0 0 4 1 2007-10-23 Q6AWC8 YK026_HUMAN Putative uncharacterized protein LOC100129027 147 16.8 0 0 0 5 1 2008-06-10 Q6XCG6 YA011_HUMAN Putative uncharacterized protein PP632 107 11.5 0 0 0 4 1 2008-02-26 Q6ZR54 YN009_HUMAN Putative uncharacterized protein FLJ46641 194 19.4 0 0 0 5 1 2008-05-20 Q6ZRG5 YQ015_HUMAN Putative uncharacterized protein FLJ43944 221 24.1 0 0 0 5 1 2008-04-29 Q6ZSK4 NTAS1_HUMAN NTM-AS1 Putative uncharacterized protein NTM-AS1 140 15.2 0 0 0 5 1 2007-02-06 Q6ZUT4 YL014_HUMAN Putative uncharacterized protein FLJ43343 128 14.2 0 0 0 5 1 2008-06-10 Q6ZVL8 YP033_HUMAN Putative uncharacterized protein FLJ42384 140 15.9 0 0 0 2 1 2008-05-20 Q71F78 LCA10_HUMAN LCA10 Putative lung carcinoma-associated protein 10 164 17.3 0 0 0 2 1 2008-03-18 Q86U37 CN023_HUMAN LINC01551 Uncharacterized protein encoded by LINC01551 167 18.8 0 0 0 2 1 2008-06-10 Q86UQ5 GTSC1_HUMAN GTSCR1 Gilles de la Tourette syndrome chromosomal region candidate gene 1 protein 136 15.6 Membrane 1 0 0 5 1 2007-01-09 Q8IZM0 CNG1O_HUMAN Putative CNGA1-overlapping antisense gene protein 81 9.1 0 0 0 5 1 2008-05-20 Q8N1L1 CV037_HUMAN LINC00528 Putative uncharacterized protein encoded by LINC00528 170 18.1 0 0 0 5 1 2006-10-31 Q8N2A0 CX062_HUMAN LINC00269 Putative uncharacterized protein encoded by LINC00269 174 18.3 0 0 0 5 1 2008-02-05 Q8N7H1 CL061_HUMAN LINC01465 Putative uncharacterized protein encoded by LINC01465 131 13.4 0 0 0 1 1 2007-04-17 Q8N7P7 YH007_HUMAN Uncharacterized protein FLJ40521 452 48.3 0 0 0 1 1 2008-06-10 Q8N812 CL076_HUMAN C12orf76 Uncharacterized protein C12orf76 135 15 0 0 0 2 1 2008-03-18 Q8N814 YG045_HUMAN Putative uncharacterized protein FLJ40140 137 14.4 0 0 0 5 1 2008-09-02 Q8N8J0 PI4P1_HUMAN PI4KAP1 Putative inactive phosphatidylinositol 4-kinase alpha-like protein P1 262 29.2 0 0 0 5 1 2008-06-10 Q8N8V8 TM105_HUMAN TMEM105 Transmembrane protein 105 129 14 Membrane 2 0 0 2 1 2007-02-06 Q8NAE3 CA180_HUMAN LINC01555 Putative uncharacterized protein encoded by LINC01555 123 13.1 0 0 0 2 1 2007-01-09 Q8NBR9 CK072_HUMAN NDUFV1-DT Uncharacterized protein NDUFV1-DT 251 27.9 0 0 0 2 1 2006-12-12 Q8WU49 CG033_HUMAN C7orf33 Uncharacterized protein C7orf33 177 19.5 7 0 0 0 2 1 2005-07-05 Q96BT1 CC049_HUMAN C3orf49 Putative uncharacterized protein C3orf49 292 33.5 3 0 0 0 2 1 2006-12-12 Q96CB5 CH044_HUMAN C8orf44 Putative uncharacterized protein C8orf44 159 18.4 8 0 0 0 2 1 2007-03-06 Q96KT6 CH014_HUMAN LINC00208 Putative uncharacterized protein encoded by LINC00208 92 9.8 0 0 0 5 1 2005-07-19 Q96M15 IFAS1_HUMAN IGF2BP2-AS1 Putative uncharacterized protein IGF2BP2-AS1 143 16 0 0 0 2 1 2006-12-12 Q9BXW3 SNH12_HUMAN SNHG12 Putative uncharacterized protein SNHG12 62 7 0 0 0 5 1 2007-02-20 Q9H693 CP095_HUMAN C16orf95 Uncharacterized protein C16orf95 158 16.8 16 0 0 0 1 1 2011-07-27 Q9H8Q6 HEAS1_HUMAN HEXA-AS1 Putative uncharacterized protein encoded by HEXA-AS1 139 16.1 0 0 0 5 1 2006-12-12 Q9H8V8 YD018_HUMAN Putative uncharacterized protein FLJ13197 135 14.8 0 0 0 5 1 2008-05-20 Q9HAA7 YG046_HUMAN Putative uncharacterized protein FLJ11871 133 14.5 0 0 0 5 1 2008-09-02 Q9NRI7 PPY2_HUMAN PPY2P Putative pancreatic polypeptide 2 21 2.2 0 0 0 5 1 2008-01-15 Q9P1D8 YP008_HUMAN Putative uncharacterized protein PRO2289 64 6.6 0 0 0 5 1 2008-02-26 Q9UHU1 YK039_HUMAN Putative uncharacterized protein PRO1716 43 4.9 0 0 0 5 1 2008-07-01 Q9UI72 YE014_HUMAN Putative uncharacterized protein PRO0255 69 8.2 0 0 0 5 1 2008-04-29 A0A0J9YXA8 TJB11_HUMAN TRBJ1-1 T cell receptor beta joining 1-1 15 1.6 7 Cell membrane 0 0 0 4 1 2018-07-18 A0A0U1RQG5 CT47C_HUMAN CT47C1 Cancer/testis antigen family 47 member C1 324 35.1 X 0 0 0 1 1 2023-02-22 A0A1B0GU71 C97D2_HUMAN CFAP97D2 Uncharacterized protein CFAP97D2 98 11.7 13 0 0 0 3 1 2018-09-12 A0A1B0GUC4 MYCOS_HUMAN MYOCOS Myocilin opposite strand protein 80 9 1 0 0 0 1 1 2017-11-22 A0A1B0GUT2 CJ143_HUMAN C10orf143 Uncharacterized protein C10orf143 108 11.7 10 0 0 0 4 1 2018-01-31 A0A1B0GUV1 CQ114_HUMAN C17orf114 Uncharacterized protein C17orf114 79 8.3 17 0 0 0 4 1 2021-04-07 A0A1B0GV90 CTXD2_HUMAN CTXND2 Cortexin domain containing 2 55 6 1 Membrane 1 0 0 3 1 2018-01-31 A0A1B0GVG6 TEX54_HUMAN TEX54 Testis-expressed protein 54 124 14.1 11 0 0 0 1 1 2018-01-31 A0A1B0GVM5 ETDC_HUMAN ETDC Embryonic testis differentiation protein homolog C 59 6.8 X 0 0 0 4 1 2018-07-18 A0A1B0GVM6 CK097_HUMAN C11orf97 Uncharacterized protein C11orf97 126 13.9 11 Cytoplasm 0 0 0 3 1 2017-05-10 A0A1B0GVZ9 TM269_HUMAN TMEM269 Transmembrane protein 269 203 22.5 1 Membrane 3 0 0 3 1 2017-06-07 A0A1B0GWI6 CX49C_HUMAN CXorf49C Uncharacterized protein CXorf49C 518 55.1 X 0 0 0 1 1 2026-01-28 A0A1W2PPE3 CA202_HUMAN C1orf202 Uncharacterized protein C1orf202 182 20.3 1 0 0 0 1 1 2023-06-28 A0A8I5KY20 CC92B_HUMAN CCDC92B Coiled-coil domain-containing 92B 255 28.7 17 0 0 0 1 1 2023-09-13 A6NF36 CC182_HUMAN CCDC182 Coiled-coil domain-containing protein 182 153 17.5 17 0 0 0 1 1 2008-04-08 A6NIU2 CU037_HUMAN LINC01549 Putative uncharacterized protein encoded by LINC01549 74 8.5 0 0 0 5 1 2007-10-23 A8MTZ7 CL071_HUMAN C12orf71 Uncharacterized protein C12orf71 269 30.4 12 0 0 0 1 1 2008-07-22 A8MU10 YQ047_HUMAN Putative uncharacterized protein ENSP00000381562 97 10.3 0 0 0 4 1 2008-09-02 A8MUI8 YA034_HUMAN Putative UPF0607 protein ENSP00000383783 341 37.6 0 0 0 3 1 2008-07-01 A8MUU9 YV023_HUMAN Putative uncharacterized protein ENSP00000383309 505 55.3 0 0 0 5 1 2008-04-29 A8MV24 SPMA1_HUMAN SPMAP1 Sperm microtubule associated protein 1 154 17.6 17 0 0 0 1 1 2008-06-10 A8MYJ7 TTC34_HUMAN TTC34 Tetratricopeptide repeat protein 34 566 60.9 1 0 0 0 1 1 2008-06-10 A8MZG2 CP090_HUMAN C16orf90 Uncharacterized protein C16orf90 182 19.6 16 0 0 0 2 1 2008-07-22 C9JC47 F157A_HUMAN FAM157A Putative protein FAM157A 383 42.9 0 0 0 3 1 2010-07-13 J3KSC0 CR064_HUMAN LINC01387 Putative uncharacterized protein encoded by LINC01387 135 14.9 0 0 0 5 1 2013-06-26 O60384 ZN861_HUMAN ZNF861P Putative zinc finger protein 861 105 12 0 0 0 5 1 2008-03-18 P01858 TUFT_HUMAN Phagocytosis-stimulating peptide 4 0.5 0 0 0 1 1 1986-07-21 P0C5K7 CT62_HUMAN CT62 Cancer/testis antigen 62 136 15.4 15 0 0 0 2 1 2007-11-13 P0C879 YJ018_HUMAN Putative uncharacterized protein FLJ43185 139 14.5 0 0 0 5 1 2008-09-02 P0C880 YT014_HUMAN Putative uncharacterized protein FLJ40606 135 14.2 0 0 0 5 1 2008-09-02 P0CE67 CC079_HUMAN LINC02877 Putative uncharacterized protein encoded by LINC02877 100 11.3 0 0 0 5 1 2010-03-23 P0CH98 F106C_HUMAN FAM106C Protein FAM106C 169 18.7 0 0 0 3 1 2010-10-05 P0DH78 RN224_HUMAN RNF224 RING finger protein 224 156 16.5 9 0 0 0 4 1 2011-07-27 P0DPP9 ETDB_HUMAN ETDB Embryonic testis differentiation protein homolog B 59 7 X 0 0 0 4 1 2018-10-10 P0DV60 LCE7A_HUMAN LCE7A Late cornified envelope protein 7A 95 10.5 1 0 0 0 3 1 2022-02-23 Q2M2D7 TBC28_HUMAN TBC1D28 TBC1 domain family member 28 210 24.1 17 0 0 0 2 1 2008-05-20 Q3C1V9 YK041_HUMAN Putative uncharacterized protein ENSP00000334305 767 84.9 0 0 0 5 1 2008-07-01 Q52M75 CE027_HUMAN LINC01554 Putative uncharacterized protein encoded by LINC01554 96 10.9 0 0 0 4 1 2007-10-02 Q5PR19 YI024_HUMAN Putative UPF0607 protein LOC392364 223 24.6 0 0 0 2 1 2008-05-20 Q5T3Y7 BVAS1_HUMAN POPDC1-AS1 Putative uncharacterized protein POPDC1-AS1 98 11.2 0 0 0 5 1 2010-06-15 Q5T7P6 TMM78_HUMAN TMEM78 Transmembrane protein 78 136 15.2 Membrane 2 0 0 2 1 2007-02-20 Q5T7R7 CA185_HUMAN C1orf185 Uncharacterized protein C1orf185 199 22.4 1 Membrane 1 0 0 1 1 2007-01-09 Q5T870 PRR9_HUMAN PRR9 Proline-rich protein 9 116 12.9 1 0 0 0 1 1 2008-05-20 Q5TEZ5 CF163_HUMAN C6orf163 Uncharacterized protein C6orf163 329 38.6 6 0 0 0 1 1 2007-01-09 Q5VSD8 YI029_HUMAN Putative uncharacterized protein LOC401522 79 8.2 0 0 0 4 1 2008-07-01 Q5VT40 FA78B_HUMAN FAM78B Protein FAM78B 261 29.8 1 0 0 0 1 1 2006-12-12 Q6UWF5 YF002_HUMAN Putative uncharacterized protein UNQ5815/PRO19632 114 12.9 Membrane 2 0 0 4 1 2008-02-05 Q6UXQ4 CB066_HUMAN C2orf66 Uncharacterized protein C2orf66 117 13.3 2 Secreted 0 0 0 3 1 2008-02-05 Q6ZMV7 LEKR1_HUMAN LEKR1 Protein LEKR1 132 16 3 0 0 0 2 1 2008-03-18 Q6ZR85 CQ107_HUMAN C17orf107 Uncharacterized protein C17orf107 190 19.9 17 0 0 0 1 1 2008-07-01 Q6ZRM9 YG024_HUMAN Putative uncharacterized protein FLJ46235 215 21.8 0 0 0 2 1 2008-04-08 Q6ZRP5 YD019_HUMAN Putative uncharacterized protein FLJ46204 223 25.3 0 0 0 5 1 2008-05-20 Q6ZSN1 YI023_HUMAN Putative uncharacterized protein FLJ45355 163 16.7 0 0 0 2 1 2008-05-20 Q6ZTR6 ZNFDT_HUMAN ZNF516-DT Putative uncharacterized protein ZNF516-DT 163 17.2 0 0 0 5 1 2014-11-26 Q6ZWC4 YS043_HUMAN Putative uncharacterized protein LOC100128429 215 23 0 0 0 5 1 2008-05-20 Q86TU6 CN070_HUMAN LINC00523 Putative uncharacterized protein encoded by LINC00523 105 12.1 0 0 0 5 1 2006-12-12 Q8IXQ3 CI040_HUMAN C9orf40 Uncharacterized protein C9orf40 194 21.1 9 0 0 0 1 1 2005-08-16 Q8N1X5 YF001_HUMAN Uncharacterized protein FLJ37310 172 16.5 0 0 0 1 1 2007-09-11 Q8N2B8 YB035_HUMAN Putative uncharacterized protein FLJ33534 174 19.1 0 0 0 2 1 2008-06-10 Q8N2C9 UMAS1_HUMAN UMODL1-AS1 Uncharacterized protein UMODL1-AS1 162 18 0 0 0 1 1 2004-03-15 Q8N4M7 CJ126_HUMAN C10orf126 Putative uncharacterized protein C10orf126 172 19.5 0 0 0 2 1 2007-03-06 Q8N616 TM148_HUMAN LINC00311 Putative uncharacterized protein encoded by LINC00311 119 12.9 0 0 0 5 1 2007-01-09 Q8N8G6 CO054_HUMAN LINC02915 Putative uncharacterized protein encoded by LINC02915 183 21 0 0 0 1 1 2008-07-22 Q8N976 YG039_HUMAN Putative uncharacterized protein FLJ38264 141 14.9 0 0 0 5 1 2008-06-10 Q8N9P0 YF006_HUMAN Putative uncharacterized protein FLJ36797 234 25.2 0 0 0 5 1 2008-03-18 Q8N9X3 YA026_HUMAN LINC01356 Putative uncharacterized protein encoded by LINC01356 169 18.9 0 0 0 5 1 2008-06-10 Q8NA97 FEAS1_HUMAN FER1L6-AS1 Putative uncharacterized protein FER1L6-AS1 138 15.2 0 0 0 2 1 2007-01-09 Q8NBF4 YG006_HUMAN Putative uncharacterized protein FLJ33307 154 16.2 0 0 0 5 1 2008-02-26 Q8TB33 CX024_HUMAN LINC01560 Putative uncharacterized protein encoded by LINC01560 94 10.4 0 0 0 4 1 2008-04-08 Q8TCH9 YV004_HUMAN Putative uncharacterized protein FLJ23865 128 14.2 0 0 0 2 1 2005-09-27 Q96MT4 CF195_HUMAN LINC01600 Uncharacterized protein encoded by LINC01600 127 13.9 0 0 0 2 1 2005-07-19 Q96T59 CDRTF_HUMAN CDRT15 CMT1A duplicated region transcript 15 protein 188 20.7 17 0 0 0 1 1 2008-01-15 Q9BTK2 YX002_HUMAN Putative uncharacterized protein LOC642776 45 4.9 0 0 0 5 1 2006-10-31 Q9BZ98 TTY12_HUMAN TTTY12 Putative transcript Y 12 protein 90 10.5 0 0 0 5 1 2003-01-17 Q9BZS9 YG041_HUMAN Putative uncharacterized protein PNAS-138 49 5.6 0 0 0 5 1 2008-07-01 Q9H0A3 T191A_HUMAN TMEM191A Transmembrane protein 191A 160 18 Membrane 1 0 0 2 1 2008-06-10 Q9H478 KCQ1D_HUMAN KCNQ1DN KCNQ1 downstream neighbor protein 68 7.4 0 0 0 2 1 2005-12-06 Q9UHT4 YG001_HUMAN Putative uncharacterized protein PRO1854 67 8.3 0 0 0 5 1 2000-12-01 Q9UI25 YP002_HUMAN Putative uncharacterized protein PRO0461 63 7 0 0 0 5 1 2000-12-01 A0A087WWA1 P3URF_HUMAN P3R3URF PIK3R3 upstream open reading frame protein 95 11 1 0 0 0 1 1 2019-02-13 A0A0A0MTA4 TJB25_HUMAN TRBJ2-5 T cell receptor beta joining 2-5 15 1.7 Cell membrane 0 0 0 4 1 2019-06-05 A0A0J9YWP8 TJB13_HUMAN TRBJ1-3 T cell receptor beta joining 1-3 16 1.7 7 Cell membrane 0 0 0 4 1 2019-05-08 A0A0J9YXG5 TJB14_HUMAN TRBJ1-4 T cell receptor beta joining 1-4 16 1.7 7 Cell membrane 0 0 0 4 1 2019-05-08 A0A0J9YXM7 TJB15_HUMAN TRBJ1-5 T cell receptor beta joining 1-5 16 1.8 7 Cell membrane 0 0 0 4 1 2019-05-08 A0A0J9YXQ4 PMA6E_HUMAN PNMA6E Paraneoplastic antigen Ma6E 647 65.2 X 0 0 0 1 1 2017-07-05 A0A0U1RR37 CA232_HUMAN C1orf232 Uncharacterized protein C1orf232 186 20.3 1 0 0 0 4 1 2017-09-27 A0A1B0GTU2 CTXD1_HUMAN CTXND1 Cortexin domain-containing 1 protein 59 6.7 15 Membrane 1 0 0 3 1 2018-01-31 A0A1B0GUQ0 F236A_HUMAN FAM236A Protein FAM236A 79 8.7 X 0 0 0 3 1 2017-05-10 A0A1B0GW54 SIM39_HUMAN SMIM39 Small integral membrane protein 39 56 6 2 Membrane 1 0 0 3 1 2019-01-16 A0A3B3IT52 MSD5_HUMAN MSANTD5 Uncharacterized protein MSANTD5 213 24.5 5 0 0 0 4 1 2020-12-02 A0A411D538 SCPPQ_HUMAN SCPPPQ1 Secretory calcium-binding phosphoprotein proline- and glutamine-rich 1 79 8.7 4 Secreted 0 0 0 3 1 2023-11-08 A0A494C0N9 F246B_HUMAN FAM246B Protein FAM246B 232 24.4 22 0 0 0 3 1 2020-08-12 A1L4L8 PL8L1_HUMAN PLAC8L1 PLAC8-like protein 1 177 19.9 5 0 0 0 2 1 2007-12-04 A4QN01 CJ040_HUMAN LINC01553 Putative uncharacterized protein encoded by LINC01553 128 15.3 0 0 0 2 1 2007-07-10 A6NCS6 CB072_HUMAN C2orf72 Uncharacterized protein C2orf72 295 30.5 2 0 0 0 1 1 2008-06-10 A6NGY3 CE052_HUMAN C5orf52 Uncharacterized protein C5orf52 159 17.9 5 0 0 0 1 1 2008-06-10 A6NHR8 FA47D_HUMAN FAM47DP Putative protein FAM47D 397 46.8 0 0 0 5 1 2008-07-01 A6NJI9 LRC72_HUMAN LRRC72 Leucine-rich repeat-containing protein 72 287 33.7 7 0 0 0 1 1 2008-09-02 A6NKX1 F223B_HUMAN FAM223B Protein FAM223B 122 13.8 0 0 0 3 1 2008-07-01 A6NM66 CU054_HUMAN LINC01548 Uncharacterized protein encoded by LINC01548 108 11.7 0 0 0 4 1 2008-01-15 A6NNX1 RIAD1_HUMAN RIIAD1 RIIa domain-containing protein 1 92 10.8 1 0 0 0 1 1 2008-07-01 A8MVM7 YD021_HUMAN Putative uncharacterized protein ENSP00000382790 634 73.5 0 0 0 5 1 2008-06-10 A8MZF0 PRR33_HUMAN PRR33 Proline-rich protein 33 331 35.2 0 0 0 1 1 2008-04-29 E9PIF3 NPIA2_HUMAN NPIPA2 Nuclear pore complex-interacting protein family member A2 369 42.2 16 0 0 0 3 1 2013-10-16 F2Z3F1 CE067_HUMAN C5orf67 Uncharacterized protein C5orf67 127 14.1 0 0 0 4 1 2015-06-24 H3BMG3 SMKR1_HUMAN SMKR1 Small lysine-rich protein 1 65 7.1 7 0 0 0 4 1 2013-03-06 O15225 INE1_HUMAN INE1 Putative inactivation escape 1 protein 51 5.4 0 0 0 5 1 1999-07-15 P0C875 F228B_HUMAN FAM228B Protein FAM228B 324 38.1 2 0 0 0 1 1 2008-09-02 P0CG42 F157B_HUMAN FAM157B Putative protein FAM157B 384 43.1 0 0 0 3 1 2010-07-13 P0DMV1 CT458_HUMAN CT45A8 Cancer/testis antigen family 45 member A8 189 21.4 X 0 0 0 3 1 2015-05-27 P0DMV2 CT459_HUMAN CT45A9 Cancer/testis antigen family 45 member A9 189 21.4 X 0 0 0 3 1 2015-05-27 P0DMW3 SIML1_HUMAN SMIM10L1 Small integral membrane protein 10-like protein 1 68 7.4 12 0 0 0 1 1 2015-06-24 P0DMW5 SIL2B_HUMAN SMIM10L2B Small integral membrane protein 10-like protein 2B 78 8.4 X 0 0 0 4 1 2015-06-24 P0DQW1 SIM46_HUMAN SMIM46 Small integral membrane protein 46 50 5.6 19 Membrane 1 0 0 3 1 2022-12-14 P0DXC3 NPIA6_HUMAN NPIPA6 Nuclear pore complex-interacting protein family member A6 369 42.1 16 0 0 0 3 1 2024-05-29 P58513 CU042_HUMAN LINC00158 Putative uncharacterized protein encoded by LINC00158 81 9.6 0 0 0 5 1 2002-01-23 Q05BU3 F86JP_HUMAN FAM86JP Putative protein FAM86JP 40 4 0 0 0 5 1 2008-03-18 Q0VFX4 YL016_HUMAN Putative uncharacterized protein LOC100128554 171 18.1 0 0 0 2 1 2008-07-22 Q13166 CATR1_HUMAN CATR1 CATR tumorigenic conversion 1 protein 79 9.2 0 0 0 2 1 1997-11-01 Q14695 K0087_HUMAN KIAA0087 Uncharacterized protein KIAA0087 138 14.9 0 0 0 2 1 1998-07-15 Q499Y3 YJ016_HUMAN Putative uncharacterized protein C10orf88-like 187 20.5 0 0 0 2 1 2008-09-02 Q5JQF7 CF100_HUMAN LINC01556 Putative uncharacterized protein encoded by LINC01556 62 7.3 0 0 0 4 1 2007-11-13 Q5SY85 F201A_HUMAN FAM201A Protein FAM201A 155 16.5 0 0 0 4 1 2006-05-30 Q5T7N8 F27D1_HUMAN FAM27D1 Protein FAM27D1 215 24.9 0 0 0 3 1 2008-06-10 Q6UXP9 YO001_HUMAN Putative uncharacterized protein UNQ9370/PRO34162 181 19.8 0 0 0 5 1 2008-02-05 Q6UXR8 YS001_HUMAN Putative uncharacterized protein UNQ6493/PRO21345 122 12.8 0 0 0 5 1 2008-02-05 Q6ZR03 YU004_HUMAN Uncharacterized protein FLJ46757 302 31.3 0 0 0 2 1 2008-06-10 Q6ZRN7 YP029_HUMAN Putative uncharacterized protein FLJ46214 208 21.2 0 0 0 2 1 2008-05-20 Q6ZRU5 YQ032_HUMAN Putative uncharacterized protein FLJ46089 148 16.9 Secreted 0 0 0 5 1 2008-07-01 Q6ZSA8 YS025_HUMAN Putative uncharacterized protein FLJ45684 131 13.8 0 0 0 5 1 2008-04-29 Q6ZSB3 CB046_HUMAN LINC00299 Putative uncharacterized protein encoded by LINC00299 139 15.7 0 0 0 5 1 2006-12-12 Q6ZSR6 YP007_HUMAN Putative uncharacterized protein FLJ45256 202 23 0 0 0 2 1 2008-02-26 Q6ZTC4 YT009_HUMAN Putative uncharacterized protein FLJ44790 211 22.1 0 0 0 2 1 2008-05-20 Q6ZTI0 YK032_HUMAN Putative uncharacterized protein FLJ44636 123 12.9 0 0 0 5 1 2008-05-20 Q6ZTY9 CG065_HUMAN LINC02902 Putative uncharacterized protein LINC02902 151 16.8 0 0 0 5 1 2008-09-02 Q6ZUG5 YC006_HUMAN Uncharacterized protein FLJ43738 572 66 0 0 0 1 1 2008-02-26 Q8N9G6 YJ012_HUMAN Putative UPF0607 protein FLJ37424 341 37.5 0 0 0 2 1 2008-07-01 Q8N9L7 YV006_HUMAN Putative uncharacterized protein FLJ36925 120 13.5 0 0 0 5 1 2006-10-31 Q8TEV8 SMCR5_HUMAN SMCR5 Smith-Magenis syndrome chromosomal region candidate gene 5 protein 140 15.3 0 0 0 2 1 2007-10-23 Q96FK6 WDR89_HUMAN WDR89 WD repeat-containing protein 89 387 43.2 14 0 0 0 1 1 2006-10-31 Q96M78 FEAS2_HUMAN FER1L6-AS2 Putative uncharacterized protein encoded by FER1L6-AS2 137 15.5 0 0 0 2 1 2007-01-09 Q96NJ1 YI001_HUMAN Uncharacterized protein FLJ30774 140 14.3 0 0 0 2 1 2007-09-11 Q96PS6 GAFA1_HUMAN GAFA1 Putative uncharacterized protein GAFA-1 74 8.4 Membrane 1 0 0 4 1 2008-03-18 Q9H521 YM006_HUMAN Putative uncharacterized protein LOC645739 79 9.3 0 0 0 5 1 2008-02-26 Q9UF83 YM012_HUMAN Uncharacterized protein DKFZp434B061 564 59.4 0 0 0 1 1 2008-04-29 Q9UI54 YT001_HUMAN Putative uncharacterized protein PRO0628 55 6.4 0 0 0 5 1 2000-12-01 Q9Y3F1 TA6P_HUMAN Putative TAP2-associated 6.5 kDa polypeptide 56 6.5 0 0 0 5 1 2000-12-01 A0A0A0MT87 TJB24_HUMAN TRBJ2-4 T cell receptor beta joining 2-4 16 1.7 Cell membrane 0 0 0 4 1 2019-06-05 A0A0J9YX94 PMA6F_HUMAN PNMA6F Paraneoplastic antigen Ma6F 578 60.1 X 0 0 0 1 1 2017-07-05 A0A1B0GTC6 CC085_HUMAN C3orf85 Uncharacterized protein C3orf85 90 10.4 3 0 0 0 1 1 2018-01-31 A0A1B0GTH9 ZN475_HUMAN ZNF475 Zinc finger protein 475 108 12.3 5 0 0 0 1 1 2023-09-13 A0A1B0GTI1 CC201_HUMAN CCDC201 Coiled-coil domain-containing protein 201 187 20.6 7 0 0 0 4 1 2019-06-05 A0A1B0GU29 SIM28_HUMAN SMIM28 Small integral membrane protein 28 152 16.6 6 Membrane 1 0 0 3 1 2017-09-27 A0A1B0GUA9 CM046_HUMAN C13orf46 Uncharacterized protein C13orf46 212 23.4 13 0 0 0 1 1 2018-09-12 A0A3G1DJL7 SHLP1_HUMAN MT-RNR2 Small humanin-like peptide 1 24 2.4 MT 0 0 0 4 1 2026-01-28 A4D250 BLACE_HUMAN BLACE B-cell acute lymphoblastic leukemia-expressed protein 179 19.5 0 0 0 2 1 2011-07-27 A6NJI1 CK086_HUMAN C11orf86 Uncharacterized protein C11orf86 115 13.2 11 0 0 0 1 1 2008-04-08 A8MV72 YH009_HUMAN Putative UPF0607 protein ENSP00000382826 311 34.2 0 0 0 5 1 2008-07-01 B3EWG6 FM25G_HUMAN FAM25G Protein FAM25G 89 9.3 10 0 0 0 3 1 2012-03-21 C0HMD7 INS4G_HUMAN InSet4-G Protein InSETG-4 151 16.2 Cytoplasm 0 0 0 1 1 2025-04-09 C9J302 CD051_HUMAN C4orf51 Uncharacterized protein C4orf51 202 23 4 0 0 0 1 1 2010-03-23 F8WFD2 NPIA3_HUMAN NPIPA3 Nuclear pore complex-interacting protein family member A3 350 40.1 16 0 0 0 3 1 2013-10-16 H3BNL8 ARMD2_HUMAN ARMH2 Armadillo-like helical domain-containing protein 2 230 26.5 6 0 0 0 1 1 2014-02-19 P01358 GAJU_HUMAN Gastric juice peptide 1 10 1 0 0 0 1 1 1986-07-21 P0C5K6 CT18_HUMAN VENTXP1 Putative tumor antigen NA88-A 33 3.5 0 0 0 5 1 2007-10-23 P0C7U9 FA87A_HUMAN FAM87A Protein FAM87A 286 31.7 Membrane 2 0 0 2 1 2008-07-22 P0CG43 F157C_HUMAN FAM157C Putative protein FAM157C 387 43.4 0 0 0 3 1 2010-07-13 P0DMW4 SIL2A_HUMAN SMIM10L2A Small integral membrane protein 10-like protein 2A 78 8.4 X 0 0 0 4 1 2015-06-24 P59020 DSCR9_HUMAN DSCR9 Down syndrome critical region protein 9 149 16.7 0 0 0 2 1 2002-09-19 P59022 DSC10_HUMAN DSCR10 Down syndrome critical region protein 10 87 9.3 0 0 0 5 1 2002-09-19 Q1RN00 N3AS1_HUMAN NECTIN3-AS1 Uncharacterized protein NECTIN3-AS1 199 22.2 0 0 0 1 1 2008-05-20 Q495D7 CL036_HUMAN LINC01559 Putative uncharacterized protein encoded by LINC01559 138 16 0 0 0 1 1 2007-02-06 Q5STR5 SIM40_HUMAN SMIM40 Small integral membrane protein 40 79 9 6 Membrane 1 0 0 1 1 2019-02-13 Q5T0J3 CA220_HUMAN C1orf220 Putative uncharacterized protein C1orf220 134 15.1 0 0 0 2 1 2008-03-18 Q5TEZ4 CF164_HUMAN LINC01590 Putative uncharacterized protein encoded by LINC01590 76 8.4 0 0 0 5 1 2007-10-02 Q5VT33 CX031_HUMAN LINC01545 Putative uncharacterized protein encoded by LINC01545 79 9.5 0 0 0 4 1 2007-01-09 Q5VVS0 CA140_HUMAN C1orf140 Putative uncharacterized protein C1orf140 124 13.9 0 0 0 5 1 2007-07-10 Q6IC83 CV042_HUMAN C22orf42 Uncharacterized protein C22orf42 251 27.7 22 0 0 0 2 1 2008-07-22 Q6P435 SMG1L_HUMAN Putative uncharacterized SMG1-like protein 159 17.7 0 0 0 5 1 2007-10-02 Q6W349 CD011_HUMAN LINC00575 Putative uncharacterized protein encoded by LINC00575 94 10.2 0 0 0 5 1 2008-03-18 Q6ZQY7 YO026_HUMAN Putative uncharacterized protein FLJ46792 126 14.3 0 0 0 2 1 2008-07-01 Q6ZRX8 YL004_HUMAN Putative uncharacterized protein FLJ45999 168 19 0 0 0 5 1 2008-04-29 Q6ZS52 YF013_HUMAN Putative uncharacterized protein FLJ45825 159 17.4 0 0 0 5 1 2008-05-20 Q6ZVQ6 YS045_HUMAN Putative uncharacterized protein FLJ42213 151 17 0 0 0 2 1 2008-06-10 Q6ZVU0 YK022_HUMAN Putative uncharacterized protein FLJ42102 165 18.2 0 0 0 5 1 2008-04-08 Q8IYB0 YK038_HUMAN Putative uncharacterized protein MGC39545 196 21.2 0 0 0 5 1 2008-07-01 Q8N3U1 YS014_HUMAN Putative uncharacterized protein LOC400692 123 12.7 0 0 0 2 1 2008-02-26 Q8N8P6 YX004_HUMAN Putative uncharacterized protein FLJ39060 123 13.9 0 0 0 2 1 2008-02-26 Q8NA96 YE027_HUMAN Putative uncharacterized protein FLJ35723 180 19.6 0 0 0 5 1 2008-07-01 Q8NAQ8 YP023_HUMAN Putative uncharacterized protein FLJ34945 132 14.2 0 0 0 2 1 2008-04-08 Q8WZA8 GC224_HUMAN GCRG224 Putative gastric cancer-related gene 224 protein 35 3.8 0 0 0 5 1 2008-03-18 Q96KX1 CD036_HUMAN C4orf36 Uncharacterized protein C4orf36 117 13.3 4 0 0 0 1 1 2006-12-12 Q96M66 YP010_HUMAN Putative uncharacterized protein FLJ32790 194 20.7 0 0 0 2 1 2008-02-26 Q96M85 YV008_HUMAN Putative uncharacterized protein FLJ32756 177 19.6 0 0 0 2 1 2006-10-31 Q96N68 CR015_HUMAN C18orf15 Putative uncharacterized protein C18orf15 181 19.1 Membrane 1 0 0 5 1 2005-07-19 Q9BR46 SCAS1_HUMAN SCP2D1-AS1 Putative uncharacterized protein SCP2D1-AS1 151 17.2 0 0 0 5 1 2002-09-19 Q9BRP9 YK016_HUMAN Putative uncharacterized protein MGC13053 147 15.6 0 0 0 5 1 2008-04-29 Q9BTD1 SHAS3_HUMAN SHANK2-AS3 Putative uncharacterized protein SHANK2-AS3 123 13.3 0 0 0 5 1 2006-12-12 Q9BZK8 OCR1_HUMAN OCR1 Ovarian cancer-related protein 1 76 8.4 0 0 0 4 1 2008-09-02 Q9H1L0 MI1HG_HUMAN MIR1-1HG Uncharacterized protein MIR1-1HG 117 12.4 0 0 0 4 1 2003-01-10 Q9H2U6 CO005_HUMAN LINC00597 Putative uncharacterized protein encoded by LINC00597 94 11.5 0 0 0 5 1 2005-07-19 Q9H379 YI012_HUMAN Putative uncharacterized protein PRO3102 93 10.3 0 0 0 5 1 2008-03-18 Q9P1C3 YN010_HUMAN Putative uncharacterized protein PRO2829 46 5.4 Secreted 0 0 0 5 1 2008-06-10 Q9UFV3 YO007_HUMAN Putative uncharacterized protein DKFZp434L187 132 14.9 0 0 0 5 1 2008-02-26 Q9Y6C7 L3R2A_HUMAN LINC00312 Putative uncharacterized protein encoded by LINC00312 94 11 0 0 0 5 1 2000-05-30