Cellular component organization
- AASS: aminoadipate-semialdehyde synthase
- ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
- ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
- ACTA1: actin, alpha 1, skeletal muscle
- ACTB: actin, beta
- ACTG1: actin, gamma 1
- ACVRL1: activin A receptor type II-like 1
- ADAMTS2: ADAM metallopeptidase with thrombospondin type 1 motif, 2
- AGT: angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
- AGTR1: angiotensin II receptor, type 1
- AGXT: alanine-glyoxylate aminotransferase
- AKT1: v-akt murine thymoma viral oncogene homolog 1
- ALAD: aminolevulinate dehydratase
- ALDH5A1: aldehyde dehydrogenase 5 family, member A1
- ALDOB: aldolase B, fructose-bisphosphate
- ALMS1: Alstrom syndrome 1
- ALS2: amyotrophic lateral sclerosis 2 (juvenile)
- AMELX: amelogenin, X-linked
- ANG: angiogenin, ribonuclease, RNase A family, 5
- ANK1: ankyrin 1, erythrocytic
- ANK2: ankyrin 2, neuronal
- APC: adenomatous polyposis coli
- APOA1: apolipoprotein A-I
- APOB: apolipoprotein B
- APOE: apolipoprotein E
- APP: amyloid beta (A4) precursor protein
- AR: androgen receptor
- ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
- ARID1A: AT rich interactive domain 1A (SWI-like)
- ARID1B: AT rich interactive domain 1B (SWI1-like)
- ARSB: arylsulfatase B
- ATG16L1: autophagy related 16-like 1 (S. cerevisiae)
- ATL1: atlastin GTPase 1
- ATM: ataxia telangiectasia mutated
- ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
- ATP2C1: ATPase, Ca++ transporting, type 2C, member 1
- ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
- ATP7A: ATPase, Cu++ transporting, alpha polypeptide
- ATP8B1: ATPase, aminophospholipid transporter, class I, type 8B, member 1
- ATXN2: ataxin 2
- ATXN3: ataxin 3
- AVP: arginine vasopressin
- BBS1: Bardet-Biedl syndrome 1
- BBS10: Bardet-Biedl syndrome 10
- BCOR: BCL6 corepressor
- BDNF: brain-derived neurotrophic factor
- BLM: Bloom syndrome, RecQ helicase-like
- BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
- BRCA1: breast cancer 1, early onset
- BRCA2: breast cancer 2, early onset
- BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
- C10orf2: chromosome 10 open reading frame 2
- CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
- CACNA1S: calcium channel, voltage-dependent, L type, alpha 1S subunit
- CACNB4: calcium channel, voltage-dependent, beta 4 subunit
- CAPN3: calpain 3, (p94)
- CASQ2: calsequestrin 2 (cardiac muscle)
- CAV3: caveolin 3
- CDAN1: codanin 1
- CDC73: cell division cycle 73
- CDH1: cadherin 1, type 1, E-cadherin (epithelial)
- CDH23: cadherin-related 23
- CDKL5: cyclin-dependent kinase-like 5
- CEP290: centrosomal protein 290kDa
- CHEK2: checkpoint kinase 2
- CHMP2B: charged multivesicular body protein 2B
- CHN1: chimerin 1
- CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
- CLDN14: claudin 14
- CLN3: ceroid-lipofuscinosis, neuronal 3
- CLRN1: clarin 1
- COCH: cochlin
- COL11A1: collagen, type XI, alpha 1
- COL11A2: collagen, type XI, alpha 2
- COL17A1: collagen, type XVII, alpha 1
- COL18A1: collagen, type XVIII, alpha 1
- COL1A1: collagen, type I, alpha 1
- COL1A2: collagen, type I, alpha 2
- COL2A1: collagen, type II, alpha 1
- COL3A1: collagen, type III, alpha 1
- COL4A1: collagen, type IV, alpha 1
- COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
- COL4A4: collagen, type IV, alpha 4
- COL4A5: collagen, type IV, alpha 5
- COL5A1: collagen, type V, alpha 1
- COL5A2: collagen, type V, alpha 2
- COL6A1: collagen, type VI, alpha 1
- COL6A2: collagen, type VI, alpha 2
- COL6A3: collagen, type VI, alpha 3
- COL7A1: collagen, type VII, alpha 1
- COL8A2: collagen, type VIII, alpha 2
- COL9A1: collagen, type IX, alpha 1
- COL9A2: collagen, type IX, alpha 2
- COL9A3: collagen, type IX, alpha 3
- CREBBP: CREB binding protein
- CRTAP: cartilage associated protein
- CSF1R: colony stimulating factor 1 receptor
- CST3: cystatin C
- CTDP1: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
- CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
- CUL7: cullin 7
- CYBA: cytochrome b-245, alpha polypeptide
- CYBB: cytochrome b-245, beta polypeptide
- CYLD: cylindromatosis (turban tumor syndrome)
- DARS2: aspartyl-tRNA synthetase 2, mitochondrial
- DCTN1: dynactin 1
- DCX: doublecortin
- DES: desmin
- DFNB31: deafness, autosomal recessive 31
- DICER1: dicer 1, ribonuclease type III
- DKC1: dyskeratosis congenita 1, dyskerin
- DMD: dystrophin
- DMPK: dystrophia myotonica-protein kinase
- DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
- DNM2: dynamin 2
- DNMT1: DNA (cytosine-5-)-methyltransferase 1
- DRD3: dopamine receptor D3
- DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
- EDN3: endothelin 3
- EFEMP2: EGF containing fibulin-like extracellular matrix protein 2
- EHMT1: euchromatic histone-lysine N-methyltransferase 1
- ELANE: elastase, neutrophil expressed
- ELN: elastin
- EMD: emerin
- ENG: endoglin
- EP300: E1A binding protein p300
- ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
- EYA1: eyes absent homolog 1 (Drosophila)
- EZH2: enhancer of zeste homolog 2 (Drosophila)
- FANCA: Fanconi anemia, complementation group A
- FANCC: Fanconi anemia, complementation group C
- FANCG: Fanconi anemia, complementation group G
- FAS: Fas cell surface death receptor
- FBLN5: fibulin 5
- FBN1: fibrillin 1
- FBN2: fibrillin 2
- FGD1: FYVE, RhoGEF and PH domain containing 1
- FGD4: FYVE, RhoGEF and PH domain containing 4
- FGFR1: fibroblast growth factor receptor 1
- FGFR2: fibroblast growth factor receptor 2
- FGFR4: fibroblast growth factor receptor 4
- FGFRL1: fibroblast growth factor receptor-like 1
- FLCN: folliculin
- FLNA: filamin A, alpha
- FLNB: filamin B, beta
- FOXC1: forkhead box C1
- FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
- FOXG1: forkhead box G1
- FOXL2: forkhead box L2
- FOXP3: forkhead box P3
- FRMD7: FERM domain containing 7
- FTL: ferritin, light polypeptide
- FXN: frataxin
- FZD4: frizzled family receptor 4
- GAA: glucosidase, alpha; acid
- GATA1: GATA binding protein 1 (globin transcription factor 1)
- GCH1: GTP cyclohydrolase 1
- GDAP1: ganglioside induced differentiation associated protein 1
- GJA1: gap junction protein, alpha 1, 43kDa
- GJB1: gap junction protein, beta 1, 32kDa
- GJB2: gap junction protein, beta 2, 26kDa
- GNMT: glycine N-methyltransferase
- GPR143: G protein-coupled receptor 143
- GPR98: G protein-coupled receptor 98
- GRHPR: glyoxylate reductase/hydroxypyruvate reductase
- GSN: gelsolin
- HAX1: HCLS1 associated protein X-1
- HBA2: hemoglobin, alpha 2
- HBB: hemoglobin, beta
- HFE: hemochromatosis
- HFE2: hemochromatosis type 2 (juvenile)
- HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
- HLCS: holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
- HMGCL: 3-hydroxymethyl-3-methylglutaryl-CoA lyase
- HPRT1: hypoxanthine phosphoribosyltransferase 1
- HPS1: Hermansky-Pudlak syndrome 1
- HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
- HTT: huntingtin
- IGF2: insulin-like growth factor 2 (somatomedin A)
- IGHMBP2: immunoglobulin mu binding protein 2
- IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
- IL1A: interleukin 1, alpha
- INS: insulin
- ISCU: iron-sulfur cluster scaffold homolog (E. coli)
- ITGA6: integrin, alpha 6
- ITGB4: integrin, beta 4
- JAK2: Janus kinase 2
- KAL1: Kallmann syndrome 1 sequence
- KANSL1: KAT8 regulatory NSL complex subunit 1
- KAT6B: K(lysine) acetyltransferase 6B
- KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2
- KCNQ2: potassium voltage-gated channel, KQT-like subfamily, member 2
- KCNQ3: potassium voltage-gated channel, KQT-like subfamily, member 3
- KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
- KMT2D: lysine (K)-specific methyltransferase 2D
- KRAS: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
- KRT14: keratin 14
- KRT16: keratin 16
- KRT3: keratin 3
- KRT5: keratin 5
- KRT6C: keratin 6C
- KRT86: keratin 86
- L1CAM: L1 cell adhesion molecule
- LAMA3: laminin, alpha 3
- LAMB3: laminin, beta 3
- LAMC2: laminin, gamma 2
- LDLRAP1: low density lipoprotein receptor adaptor protein 1
- LEPRE1: leucine proline-enriched proteoglycan (leprecan) 1
- LETM1: leucine zipper-EF-hand containing transmembrane protein 1
- LGI1: leucine-rich, glioma inactivated 1
- LIMK1: LIM domain kinase 1
- LMNA: lamin A/C
- LPL: lipoprotein lipase
- LRP5: low density lipoprotein receptor-related protein 5
- LRRK2: leucine-rich repeat kinase 2
- LYST: lysosomal trafficking regulator
- MAP2K1: mitogen-activated protein kinase kinase 1
- MAP2K2: mitogen-activated protein kinase kinase 2
- MAPT: microtubule-associated protein tau
- MEN1: multiple endocrine neoplasia I
- MFN2: mitofusin 2
- MID1: midline 1 (Opitz/BBB syndrome)
- MITF: microphthalmia-associated transcription factor
- MKKS: McKusick-Kaufman syndrome
- MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
- MMP20: matrix metallopeptidase 20
- MPV17: MpV17 mitochondrial inner membrane protein
- MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
- MSX1: msh homeobox 1
- MTM1: myotubularin 1
- MTMR2: myotubularin related protein 2
- MUC1: mucin 1, cell surface associated
- MYH9: myosin, heavy chain 9, non-muscle
- MYO6: myosin VI
- MYO7A: myosin VIIA
- NBN: nibrin
- NCF1: neutrophil cytosolic factor 1
- NCF2: neutrophil cytosolic factor 2
- NCF4: neutrophil cytosolic factor 4, 40kDa
- NDP: Norrie disease (pseudoglioma)
- NEB: nebulin
- NEFL: neurofilament, light polypeptide
- NF1: neurofibromin 1
- NF2: neurofibromin 2 (merlin)
- NGF: nerve growth factor (beta polypeptide)
- NIPBL: Nipped-B homolog (Drosophila)
- NLRP3: NLR family, pyrin domain containing 3
- NOD2: nucleotide-binding oligomerization domain containing 2
- NOG: noggin
- NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
- NSD1: nuclear receptor binding SET domain protein 1
- NTRK1: neurotrophic tyrosine kinase, receptor, type 1
- OAT: ornithine aminotransferase
- OCRL: oculocerebrorenal syndrome of Lowe
- OFD1: oral-facial-digital syndrome 1
- OPA1: optic atrophy 1 (autosomal dominant)
- OTOF: otoferlin
- OTX2: orthodenticle homeobox 2
- PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
- PARK2: parkinson protein 2, E3 ubiquitin protein ligase (parkin)
- PARK7: parkinson protein 7
- PAX2: paired box 2
- PAX8: paired box 8
- PCDH15: protocadherin-related 15
- PCNT: pericentrin
- PCSK9: proprotein convertase subtilisin/kexin type 9
- PDGFB: platelet-derived growth factor beta polypeptide
- PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
- PDGFRB: platelet-derived growth factor receptor, beta polypeptide
- PEX1: peroxisomal biogenesis factor 1
- PEX7: peroxisomal biogenesis factor 7
- PHOX2B: paired-like homeobox 2b
- PINK1: PTEN induced putative kinase 1
- PKD2: polycystic kidney disease 2 (autosomal dominant)
- PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
- PKP2: plakophilin 2
- PLEC: plectin
- PLG: plasminogen
- PLOD1: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
- PML: promyelocytic leukemia
- PPP1R12A: protein phosphatase 1, regulatory subunit 12A
- PPT1: palmitoyl-protein thioesterase 1
- PRF1: perforin 1 (pore forming protein)
- PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
- PRNP: prion protein
- PRSS1: protease, serine, 1 (trypsin 1)
- PTCH1: patched 1
- PTEN: phosphatase and tensin homolog
- PTPN11: protein tyrosine phosphatase, non-receptor type 11
- RAB23: RAB23, member RAS oncogene family
- RAB7A: RAB7A, member RAS oncogene family
- RAD50: RAD50 homolog (S. cerevisiae)
- RAD51: RAD51 homolog (S. cerevisiae)
- RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
- RASA1: RAS p21 protein activator (GTPase activating protein) 1
- RB1: retinoblastoma 1
- RET: ret proto-oncogene
- ROBO3: roundabout, axon guidance receptor, homolog 3 (Drosophila)
- RPGR: retinitis pigmentosa GTPase regulator
- RPL11: ribosomal protein L11
- RPL35A: ribosomal protein L35a
- RPL5: ribosomal protein L5
- RPS10: ribosomal protein S10
- RPS17: ribosomal protein S17
- RPS19: ribosomal protein S19
- RPS24: ribosomal protein S24
- RPS26: ribosomal protein S26
- RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
- RPS7: ribosomal protein S7
- SACS: spastic ataxia of Charlevoix-Saguenay (sacsin)
- SALL1: sal-like 1 (Drosophila)
- SAR1B: SAR1 homolog B (S. cerevisiae)
- SBDS: Shwachman-Bodian-Diamond syndrome
- SEPT9: septin 9
- SHANK3: SH3 and multiple ankyrin repeat domains 3
- SHH: sonic hedgehog
- SKI: v-ski sarcoma viral oncogene homolog (avian)
- SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
- SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
- SLC7A7: solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
- SLC7A9: solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
- SMAD3: SMAD family member 3
- SMAD4: SMAD family member 4
- SMARCA4: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
- SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
- SMARCE1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
- SMC1A: structural maintenance of chromosomes 1A
- SMC3: structural maintenance of chromosomes 3
- SMN2: survival of motor neuron 2, centromeric
- SNAI2: snail family zinc finger 2
- SNCA: synuclein, alpha (non A4 component of amyloid precursor)
- SNCAIP: synuclein, alpha interacting protein
- SOD1: superoxide dismutase 1, soluble
- SOS1: son of sevenless homolog 1 (Drosophila)
- SOST: sclerostin
- SOX2: SRY (sex determining region Y)-box 2
- SOX9: SRY (sex determining region Y)-box 9
- SPAST: spastin
- SRCAP: Snf2-related CREBBP activator protein
- STK11: serine/threonine kinase 11
- STRC: stereocilin
- SURF1: surfeit 1
- SYNE1: spectrin repeat containing, nuclear envelope 1
- TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
- TAZ: tafazzin
- TBX5: T-box 5
- TCF4: transcription factor 4
- TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
- TEK: TEK tyrosine kinase, endothelial
- TERT: telomerase reverse transcriptase
- TET2: tet methylcytosine dioxygenase 2
- TGFB1: transforming growth factor, beta 1
- TGFBR1: transforming growth factor, beta receptor 1
- TGM1: transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
- TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
- TINF2: TERF1 (TRF1)-interacting nuclear factor 2
- TNXB: tenascin XB
- TOR1A: torsin family 1, member A (torsin A)
- TP53: tumor protein p53
- TP63: tumor protein p63
- TREM2: triggering receptor expressed on myeloid cells 2
- TRIOBP: TRIO and F-actin binding protein
- TRPV4: transient receptor potential cation channel, subfamily V, member 4
- TSC1: tuberous sclerosis 1
- TSC2: tuberous sclerosis 2
- TTN: titin
- TWIST1: twist basic helix-loop-helix transcription factor 1
- TYMP: thymidine phosphorylase
- TYROBP: TYRO protein tyrosine kinase binding protein
- USH1C: Usher syndrome 1C (autosomal recessive, severe)
- USH1G: Usher syndrome 1G (autosomal recessive)
- USH2A: Usher syndrome 2A (autosomal recessive, mild)
- VCP: valosin containing protein
- VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
- VLDLR: very low density lipoprotein receptor
- VRK1: vaccinia related kinase 1
- VWF: von Willebrand factor
- WAS: Wiskott-Aldrich syndrome
- WNT3: wingless-type MMTV integration site family, member 3
- WNT4: wingless-type MMTV integration site family, member 4
- WRN: Werner syndrome, RecQ helicase-like
- WT1: Wilms tumor 1
- XPC: xeroderma pigmentosum, complementation group C
- YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
Source: Gene Ontology Consortium
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