Regulation of molecular function
- ACADVL: acyl-CoA dehydrogenase, very long chain
- AKT1: v-akt murine thymoma viral oncogene homolog 1
- ALDOB: aldolase B, fructose-bisphosphate
- ALK: anaplastic lymphoma receptor tyrosine kinase
- ALS2: amyotrophic lateral sclerosis 2 (juvenile)
- ANG: angiogenin, ribonuclease, RNase A family, 5
- ANK2: ankyrin 2, neuronal
- APC: adenomatous polyposis coli
- APOA1: apolipoprotein A-I
- APOE: apolipoprotein E
- APP: amyloid beta (A4) precursor protein
- AR: androgen receptor
- ATP7A: ATPase, Cu++ transporting, alpha polypeptide
- AVP: arginine vasopressin
- AVPR2: arginine vasopressin receptor 2
- BLM: Bloom syndrome, RecQ helicase-like
- BRAF: v-raf murine sarcoma viral oncogene homolog B1
- BTK: Bruton agammaglobulinemia tyrosine kinase
- CAPN3: calpain 3, (p94)
- CARD14: caspase recruitment domain family, member 14
- CASQ2: calsequestrin 2 (cardiac muscle)
- CAV3: caveolin 3
- CDKL5: cyclin-dependent kinase-like 5
- CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
- CLN3: ceroid-lipofuscinosis, neuronal 3
- COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
- CSF1R: colony stimulating factor 1 receptor
- CST3: cystatin C
- CSTB: cystatin B (stefin B)
- CTSA: cathepsin A
- CUL7: cullin 7
- CYLD: cylindromatosis (turban tumor syndrome)
- DCTN1: dynactin 1
- DIRAS3: DIRAS family, GTP-binding RAS-like 3
- DMD: dystrophin
- DNM2: dynamin 2
- DOK7: docking protein 7
- DRD3: dopamine receptor D3
- DRD5: dopamine receptor D5
- EDA: ectodysplasin A
- EDN3: endothelin 3
- EDNRB: endothelin receptor type B
- EGLN1: egl nine homolog 1 (C. elegans)
- ELANE: elastase, neutrophil expressed
- ENG: endoglin
- EP300: E1A binding protein p300
- ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
- FAS: Fas (TNF receptor superfamily, member 6)
- FGD1: FYVE, RhoGEF and PH domain containing 1
- FGD4: FYVE, RhoGEF and PH domain containing 4
- FGF23: fibroblast growth factor 23
- FGFR1: fibroblast growth factor receptor 1
- FGFR2: fibroblast growth factor receptor 2
- FGFR3: fibroblast growth factor receptor 3
- FGFR4: fibroblast growth factor receptor 4
- FLNA: filamin A, alpha
- FOXC1: forkhead box C1
- FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
- FOXF1: forkhead box F1
- FOXG1: forkhead box G1
- FOXL2: forkhead box L2
- FOXP3: forkhead box P3
- FXN: frataxin
- FZD4: frizzled family receptor 4
- GATA1: GATA binding protein 1 (globin transcription factor 1)
- GBA: glucosidase, beta, acid
- GCH1: GTP cyclohydrolase 1
- GH1: growth hormone 1
- GLA: galactosidase, alpha
- GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
- GNAS: GNAS complex locus
- HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
- HSPB1: heat shock 27kDa protein 1
- HTT: huntingtin
- IGF2: insulin-like growth factor 2 (somatomedin A)
- IKBKG: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
- IL23R: interleukin 23 receptor
- INS: insulin
- JAK2: Janus kinase 2
- JPH3: junctophilin 3
- KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
- KRAS: v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
- LDLRAP1: low density lipoprotein receptor adaptor protein 1
- LHCGR: luteinizing hormone/choriogonadotropin receptor
- LIMK1: LIM domain kinase 1
- LMNA: lamin A/C
- LRP5: low density lipoprotein receptor-related protein 5
- LRRK2: leucine-rich repeat kinase 2
- MAP2K1: mitogen-activated protein kinase kinase 1
- MAP2K2: mitogen-activated protein kinase kinase 2
- MEFV: Mediterranean fever
- MEN1: multiple endocrine neoplasia I
- MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
- MSH6: mutS homolog 6 (E. coli)
- MSX2: msh homeobox 2
- MYBPC3: myosin binding protein C, cardiac
- NBN: nibrin
- NF1: neurofibromin 1
- NGF: nerve growth factor (beta polypeptide)
- NLRP1: NLR family, pyrin domain containing 1
- NLRP12: NLR family, pyrin domain containing 12
- NLRP3: NLR family, pyrin domain containing 3
- NOD2: nucleotide-binding oligomerization domain containing 2
- NOG: noggin
- NR0B1: nuclear receptor subfamily 0, group B, member 1
- NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
- NTRK1: neurotrophic tyrosine kinase, receptor, type 1
- OCRL: oculocerebrorenal syndrome of Lowe
- PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
- PARK7: parkinson protein 7
- PAX2: paired box 2
- PCSK9: proprotein convertase subtilisin/kexin type 9
- PDCD10: programmed cell death 10
- PDGFB: platelet-derived growth factor beta polypeptide
- PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
- PDGFRB: platelet-derived growth factor receptor, beta polypeptide
- PKD1: polycystic kidney disease 1 (autosomal dominant)
- PKD2: polycystic kidney disease 2 (autosomal dominant)
- PML: promyelocytic leukemia
- POR: P450 (cytochrome) oxidoreductase
- PPP1R12A: protein phosphatase 1, regulatory subunit 12A
- PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
- PRKAR1A: protein kinase, cAMP-dependent, regulatory, type I, alpha
- PRNP: prion protein
- PROK2: prokineticin 2
- PROS1: protein S (alpha)
- PSAP: prosaposin
- PSEN1: presenilin 1
- PSEN2: presenilin 2 (Alzheimer disease 4)
- PTCH1: patched 1
- PTEN: phosphatase and tensin homolog
- PTS: 6-pyruvoyltetrahydropterin synthase
- RAD50: RAD50 homolog (S. cerevisiae)
- RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
- RARA: retinoic acid receptor, alpha
- RASA1: RAS p21 protein activator (GTPase activating protein) 1
- RB1: retinoblastoma 1
- RP2: retinitis pigmentosa 2 (X-linked recessive)
- RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
- RYR2: ryanodine receptor 2 (cardiac)
- SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
- SERPINA7: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
- SERPINC1: serpin peptidase inhibitor, clade C (antithrombin), member 1
- SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
- SERPINI1: serpin peptidase inhibitor, clade I (neuroserpin), member 1
- SHANK3: SH3 and multiple ankyrin repeat domains 3
- SHH: sonic hedgehog
- SKI: v-ski sarcoma viral oncogene homolog (avian)
- SMAD3: SMAD family member 3
- 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
- SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
- SNCA: synuclein, alpha (non A4 component of amyloid precursor)
- SOD1: superoxide dismutase 1, soluble
- SOS1: son of sevenless homolog 1 (Drosophila)
- SOX2: SRY (sex determining region Y)-box 2
- SPR: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
- SPRED1: sprouty-related, EVH1 domain containing 1
- STK11: serine/threonine kinase 11
- TEK: TEK tyrosine kinase, endothelial
- TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
- TGFB1: transforming growth factor, beta 1
- TGFBR1: transforming growth factor, beta receptor 1
- TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
- TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
- TNNI3: troponin I type 3 (cardiac)
- TNNT2: troponin T type 2 (cardiac)
- TP53: tumor protein p53
- TPM2: tropomyosin 2 (beta)
- TSC1: tuberous sclerosis 1
- TSC2: tuberous sclerosis 2
- TTN: titin
- TWIST1: twist basic helix-loop-helix transcription factor 1
- UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
- UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
- VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
- VCP: valosin containing protein
- WFS1: Wolfram syndrome 1 (wolframin)
- WNK1: WNK lysine deficient protein kinase 1
- WRN: Werner syndrome, RecQ helicase-like
- XIAP: X-linked inhibitor of apoptosis
- ZIC2: Zic family member 2
Source: Gene Ontology Consortium
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