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Regulation of molecular function

Regulation of molecular function

  • ACE: angiotensin I converting enzyme
  • ADCY5: adenylate cyclase 5
  • AGT: angiotensinogen
  • AGTR1: angiotensin II receptor type 1
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALDOB: aldolase, fructose-bisphosphate B
  • ALK: anaplastic lymphoma receptor tyrosine kinase
  • ALS2: ALS2, alsin Rho guanine nucleotide exchange factor
  • 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 precursor protein
  • AR: androgen receptor
  • ARFGEF2: ADP ribosylation factor guanine nucleotide exchange factor 2
  • ATM: ATM serine/threonine kinase
  • ATP1A2: ATPase, Na+/K+ transporting, alpha 2 polypeptide
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • AVP: arginine vasopressin
  • AVPR2: arginine vasopressin receptor 2
  • BLM: Bloom syndrome, RecQ helicase-like
  • BRAF: B-Raf proto-oncogene, serine/threonine kinase
  • BTK: Bruton tyrosine kinase
  • CACNB4: calcium channel, voltage-dependent, beta 4 subunit
  • CAPN3: calpain 3
  • CARD14: caspase recruitment domain family member 14
  • CASQ2: calsequestrin 2
  • CAV1: caveolin 1
  • CAV3: caveolin 3
  • CDC6: cell division cycle 6
  • CDKL5: cyclin dependent kinase like 5
  • CDKN1B: cyclin-dependent kinase inhibitor 1B (p27, Kip1)
  • CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
  • CDKN2A: cyclin-dependent kinase inhibitor 2A
  • CEBPA: CCAAT/enhancer binding protein alpha
  • CFTR: cystic fibrosis transmembrane conductance regulator
  • CHN1: chimerin 1
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • COL4A3: collagen type IV alpha 3
  • CSF1R: colony stimulating factor 1 receptor
  • CST3: cystatin C
  • CSTB: cystatin B
  • CTC1: CTS telomere maintenance complex component 1
  • CTNNB1: catenin beta 1
  • CTSA: cathepsin A
  • CXCR4: chemokine (C-X-C motif) receptor 4
  • CYLD: cylindromatosis (turban tumor syndrome)
  • CYP1B1: cytochrome P450 family 1 subfamily B member 1
  • CYP27B1: cytochrome P450 family 27 subfamily B member 1
  • DCN: decorin
  • DHCR24: 24-dehydrocholesterol reductase
  • DKC1: dyskeratosis congenita 1, dyskerin
  • DMD: dystrophin
  • DMPK: dystrophia myotonica protein kinase
  • DNM2: dynamin 2
  • DOK7: docking protein 7
  • DRD5: dopamine receptor D5
  • DVL1: dishevelled segment polarity protein 1
  • EDA: ectodysplasin A
  • EDN3: endothelin 3
  • EDNRB: endothelin receptor type B
  • EGFR: epidermal growth factor receptor
  • EGLN1: egl-9 family hypoxia-inducible factor 1
  • EIF2AK4: eukaryotic translation initiation factor 2 alpha kinase 4
  • EIF2B1: eukaryotic translation initiation factor 2B subunit alpha
  • EIF2B2: eukaryotic translation initiation factor 2B subunit beta
  • EIF2B3: eukaryotic translation initiation factor 2B subunit gamma
  • EIF2B4: eukaryotic translation initiation factor 2B subunit delta
  • EIF2B5: eukaryotic translation initiation factor 2B subunit epsilon
  • ELANE: elastase, neutrophil expressed
  • ENG: endoglin
  • EP300: E1A binding protein p300
  • ERCC6: excision repair cross-complementation group 6
  • EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit
  • FAS: Fas cell surface death receptor
  • FGD1: FYVE, RhoGEF and PH domain containing 1
  • FGD4: FYVE, RhoGEF and PH domain containing 4
  • FGF10: fibroblast growth factor 10
  • FGF23: fibroblast growth factor 23
  • FGF3: fibroblast growth factor 3
  • 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
  • FLT3: fms related tyrosine kinase 3
  • FOXL2: forkhead box L2
  • FOXP3: forkhead box P3
  • FXN: frataxin
  • FZD4: frizzled class receptor 4
  • GATA1: GATA binding protein 1 (globin transcription factor 1)
  • GBA: glucosidase, beta, acid
  • GCH1: GTP cyclohydrolase 1
  • GH1: growth hormone 1
  • GHR: growth hormone receptor
  • GLA: galactosidase alpha
  • GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
  • GNAT1: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
  • GSN: gelsolin
  • HAMP: hepcidin antimicrobial peptide
  • HFE: hemochromatosis
  • HRAS: Harvey rat sarcoma viral oncogene homolog
  • HSPB1: heat shock protein family B (small) member 1
  • HTT: huntingtin
  • IGF2: insulin like growth factor 2
  • IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • IKBKG: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
  • IL23R: interleukin 23 receptor
  • IL2RG: interleukin 2 receptor subunit gamma
  • INS: insulin
  • INSR: insulin receptor
  • ITGA6: integrin subunit alpha 6
  • ITGB3: integrin subunit beta 3
  • JAK2: Janus kinase 2
  • JPH3: junctophilin 3
  • JUP: junction plakoglobin
  • KCNE1: potassium channel, voltage gated subfamily E regulatory beta subunit 1
  • KCNE2: potassium channel, voltage gated subfamily E regulatory beta subunit 2
  • KCNQ1: potassium channel, voltage gated KQT-like subfamily Q, member 1
  • KIT: KIT proto-oncogene receptor tyrosine kinase
  • KL: klotho
  • KRAS: Kirsten rat sarcoma viral oncogene homolog
  • KRIT1: KRIT1, ankyrin repeat containing
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LEP: leptin
  • LHCGR: luteinizing hormone/choriogonadotropin receptor
  • LIMK1: LIM domain kinase 1
  • LRP5: LDL receptor related protein 5
  • LRRK2: leucine-rich repeat kinase 2
  • MAP2K1: mitogen-activated protein kinase kinase 1
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MAP3K1: mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
  • MEFV: Mediterranean fever
  • MEN1: menin 1
  • MSH2: mutS homolog 2
  • MSH6: mutS homolog 6
  • MSX2: msh homeobox 2
  • MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • MYBPC3: myosin binding protein C, cardiac
  • MYH6: myosin, heavy chain 6, cardiac muscle, alpha
  • NBN: nibrin
  • NCF4: neutrophil cytosolic factor 4
  • NCSTN: nicastrin
  • NEFL: neurofilament, light polypeptide
  • NF1: neurofibromin 1
  • NFKBIA: nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
  • 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
  • NOTCH1: notch 1
  • NPM1: nucleophosmin (nucleolar phosphoprotein B23, numatrin)
  • NR0B1: nuclear receptor subfamily 0 group B member 1
  • NRAS: neuroblastoma RAS viral (v-ras) oncogene homolog
  • NSD1: nuclear receptor binding SET domain protein 1
  • NTRK1: neurotrophic tyrosine kinase, receptor, type 1
  • NYX: nyctalopin
  • OCRL: oculocerebrorenal syndrome of Lowe
  • PAFAH1B1: platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • PARK2: parkin RBR E3 ubiquitin protein ligase
  • PARK7: parkinson protein 7
  • PAX2: paired box 2
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • PDCD10: programmed cell death 10
  • PDE6H: phosphodiesterase 6H
  • PDGFB: platelet derived growth factor subunit B
  • PDGFRA: platelet derived growth factor receptor alpha
  • PDGFRB: platelet derived growth factor receptor beta
  • PIK3R1: phosphoinositide-3-kinase regulatory subunit 1
  • PINK1: PTEN induced putative kinase 1
  • PKD1: polycystin 1, transient receptor potential channel interacting
  • PKD2: polycystin 2, transient receptor potential cation channel
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PML: promyelocytic leukemia
  • POR: P450 (cytochrome) oxidoreductase
  • PRKAG2: protein kinase AMP-activated non-catalytic subunit gamma 2
  • PRKAR1A: protein kinase cAMP-dependent type I regulatory subunit alpha
  • PRNP: prion protein
  • PROK2: prokineticin 2
  • PROS1: protein S (alpha)
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • PSENEN: presenilin enhancer gamma secretase subunit
  • PSMB8: proteasome subunit beta 8
  • PTCH1: patched 1
  • PTEN: phosphatase and tensin homolog
  • PTPN22: protein tyrosine phosphatase, non-receptor type 22
  • PTS: 6-pyruvoyltetrahydropterin synthase
  • RAF1: Raf-1 proto-oncogene, serine/threonine kinase
  • RARA: retinoic acid receptor alpha
  • RASA1: RAS p21 protein activator 1
  • RB1: retinoblastoma 1
  • RELN: reelin
  • RET: ret proto-oncogene
  • RP2: retinitis pigmentosa 2 (X-linked recessive)
  • RPS6KA3: ribosomal protein S6 kinase, 90kDa, polypeptide 3
  • RYR2: ryanodine receptor 2
  • SAA1: serum amyloid A1
  • SBF2: SET binding factor 2
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • SERPINA6: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
  • 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
  • SFTPB: surfactant protein B
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SHH: sonic hedgehog
  • SKI: SKI proto-oncogene
  • SLC11A2: solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
  • 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
  • SNCA: synuclein alpha
  • SOD1: superoxide dismutase 1, soluble
  • SOS1: SOS Ras/Rac guanine nucleotide exchange factor 1
  • SOX2: SRY-box 2
  • SPR: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
  • SPRED1: sprouty-related, EVH1 domain containing 1
  • STIM1: stromal interaction molecule 1
  • STK11: serine/threonine kinase 11
  • TEK: TEK receptor tyrosine kinase
  • TERT: telomerase reverse transcriptase
  • TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
  • TGFB1: transforming growth factor beta 1
  • TGFB2: transforming growth factor beta 2
  • TGFBR1: transforming growth factor beta receptor I
  • TGFBR2: transforming growth factor beta receptor II
  • TINF2: TERF1 (TRF1)-interacting nuclear factor 2
  • TMEM173: transmembrane protein 173
  • TNFRSF11A: tumor necrosis factor receptor superfamily member 11a
  • TNNI3: troponin I type 3 (cardiac)
  • TNNT2: troponin T type 2 (cardiac)
  • TNNT3: troponin T type 3 (skeletal, fast)
  • TP53: tumor protein p53
  • TPM2: tropomyosin 2 (beta)
  • TSC1: tuberous sclerosis 1
  • TSC2: tuberous sclerosis 2
  • TSHR: thyroid stimulating hormone receptor
  • TTN: titin
  • TWIST1: twist family bHLH transcription factor 1
  • UCHL1: ubiquitin C-terminal hydrolase L1
  • UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
  • VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
  • VCP: valosin containing protein
  • VDR: vitamin D (1,25- dihydroxyvitamin D3) receptor
  • WAS: Wiskott-Aldrich syndrome
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WNK1: WNK lysine deficient protein kinase 1
  • WNT5A: wingless-type MMTV integration site family member 5A
  • WRN: Werner syndrome, RecQ helicase-like
  • XDH: xanthine dehydrogenase
  • XIAP: X-linked inhibitor of apoptosis
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
  • ZIC2: Zic family member 2

Source: Gene Ontology ConsortiumThis link leads to a site outside Genetics Home Reference..

 
Published: February 8, 2016