# Human proteins (UniProt Swiss-Prot)

| UniProt | Entry name | Gene | Protein | Length (aa) | Mass (kDa) | Chromosome | EC number | Location | Transmembrane helices | Diseases | Disease names | 3D structures | Evidence level | Annotation score | In UniProt since |
| --- | --- | --- | --- | ---: | ---: | --- | --- | --- | ---: | ---: | --- | ---: | ---: | ---: | --- |
| 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 |

Source: https://aidb.si/d/human-proteins — The UniProt Consortium. UniProt: the Universal Protein Knowledgebase. Data from UniProtKB/Swiss-Prot (www.uniprot.org), CC BY 4.0.
(First 5000 of 20431 rows.)