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Intracellular organelle part

Intracellular organelle part

  • AAAS: achalasia, adrenocortical insufficiency, alacrimia
  • AASS: aminoadipate-semialdehyde synthase
  • ABCB7: ATP-binding cassette, sub-family B (MDR/TAP), member 7
  • ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
  • ACAD8: acyl-CoA dehydrogenase family, member 8
  • ACADM: acyl-CoA dehydrogenase, C-4 to C-12 straight chain
  • ACADS: acyl-CoA dehydrogenase, C-2 to C-3 short chain
  • ACADSB: acyl-CoA dehydrogenase, short/branched chain
  • ACADVL: acyl-CoA dehydrogenase, very long chain
  • ACAN: aggrecan
  • ACAT1: acetyl-CoA acetyltransferase 1
  • ACOX1: acyl-CoA oxidase 1, palmitoyl
  • ACTA1: actin, alpha 1, skeletal muscle
  • ACTB: actin, beta
  • AFF2: AF4/FMR2 family, member 2
  • AGL: amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
  • AGPAT2: 1-acylglycerol-3-phosphate O-acyltransferase 2
  • AGPS: alkylglycerone phosphate synthase
  • AGXT: alanine-glyoxylate aminotransferase
  • AIP: aryl hydrocarbon receptor interacting protein
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALAS1: 5'-aminolevulinate synthase 1
  • ALAS2: 5'-aminolevulinate synthase 2
  • ALDH4A1: aldehyde dehydrogenase 4 family, member A1
  • ALDH5A1: aldehyde dehydrogenase 5 family, member A1
  • ALDH7A1: aldehyde dehydrogenase 7 family, member A1
  • ALDOB: aldolase B, fructose-bisphosphate
  • ALG6: ALG6, alpha-1,3-glucosyltransferase
  • ALMS1: Alstrom syndrome 1
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • ALX1: ALX homeobox 1
  • AMACR: alpha-methylacyl-CoA racemase
  • AMN: amnion associated transmembrane protein
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • APC: adenomatous polyposis coli
  • APOA1: apolipoprotein A-I
  • APOB: apolipoprotein B
  • APOE: apolipoprotein E
  • APP: amyloid beta (A4) precursor protein
  • APRT: adenine phosphoribosyltransferase
  • APTX: aprataxin
  • AQP2: aquaporin 2 (collecting duct)
  • 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)
  • ARSA: arylsulfatase A
  • ARSB: arylsulfatase B
  • ARSE: arylsulfatase E (chondrodysplasia punctata 1)
  • ASAH1: N-acylsphingosine amidohydrolase (acid ceramidase) 1
  • ATG16L1: autophagy related 16-like 1 (S. cerevisiae)
  • ATL1: atlastin GTPase 1
  • ATM: ATM serine/threonine kinase
  • ATN1: atrophin 1
  • ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • ATP2A2: ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
  • ATP2C1: ATPase, Ca++ transporting, type 2C, member 1
  • ATP6V0A2: ATPase, H+ transporting, lysosomal V0 subunit a2
  • ATP6V0A4: ATPase, H+ transporting, lysosomal V0 subunit a4
  • ATP6V1B1: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATP7B: ATPase, Cu++ transporting, beta polypeptide
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked
  • ATXN1: ataxin 1
  • ATXN2: ataxin 2
  • ATXN3: ataxin 3
  • AUH: AU RNA binding protein/enoyl-CoA hydratase
  • BARD1: BRCA1 associated RING domain 1
  • BBS1: Bardet-Biedl syndrome 1
  • BCKDHA: branched chain keto acid dehydrogenase E1, alpha polypeptide
  • BCKDHB: branched chain keto acid dehydrogenase E1, beta polypeptide
  • BCOR: BCL6 corepressor
  • BCS1L: BC1 (ubiquinol-cytochrome c reductase) synthesis-like
  • BLM: Bloom syndrome, RecQ helicase-like
  • BRCA1: breast cancer 1, early onset
  • BRCA2: breast cancer 2, early onset
  • BRIP1: BRCA1 interacting protein C-terminal helicase 1
  • BSCL2: Berardinelli-Seip congenital lipodystrophy 2 (seipin)
  • BTD: biotinidase
  • C10orf2: chromosome 10 open reading frame 2
  • C9orf72: chromosome 9 open reading frame 72
  • CALR: calreticulin
  • CASK: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CAT: catalase
  • CBS: cystathionine-beta-synthase
  • CDC6: cell division cycle 6
  • CDC73: cell division cycle 73
  • CDH1: cadherin 1, type 1, E-cadherin (epithelial)
  • CDKL5: cyclin-dependent kinase-like 5
  • CDKN1B: cyclin-dependent kinase inhibitor 1B (p27, Kip1)
  • CDT1: chromatin licensing and DNA replication factor 1
  • CEP290: centrosomal protein 290kDa
  • CFTR: cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
  • CHD7: chromodomain helicase DNA binding protein 7
  • CHEK2: checkpoint kinase 2
  • CHMP2B: charged multivesicular body protein 2B
  • CHST3: carbohydrate (chondroitin 6) sulfotransferase 3
  • CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
  • CISD2: CDGSH iron sulfur domain 2
  • CLCN5: chloride channel, voltage-sensitive 5
  • CLCN7: chloride channel, voltage-sensitive 7
  • CLIP2: CAP-GLY domain containing linker protein 2
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CLN5: ceroid-lipofuscinosis, neuronal 5
  • CLN6: ceroid-lipofuscinosis, neuronal 6, late infantile, variant
  • CLPP: caseinolytic mitochondrial matrix peptidase proteolytic subunit
  • COG5: component of oligomeric golgi complex 5
  • 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
  • CP: ceruloplasmin (ferroxidase)
  • CPOX: coproporphyrinogen oxidase
  • CPS1: carbamoyl-phosphate synthase 1, mitochondrial
  • CPT1A: carnitine palmitoyltransferase 1A (liver)
  • CPT2: carnitine palmitoyltransferase 2
  • CREBBP: CREB binding protein
  • CRTAP: cartilage associated protein
  • CSTB: cystatin B (stefin B)
  • CTC1: CTS telomere maintenance complex component 1
  • CTDP1: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
  • CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
  • CTNS: cystinosin, lysosomal cystine transporter
  • CTSA: cathepsin A
  • CTSD: cathepsin D
  • CTSF: cathepsin F
  • CUBN: cubilin (intrinsic factor-cobalamin receptor)
  • CUL7: cullin 7
  • CYBA: cytochrome b-245, alpha polypeptide
  • CYBB: cytochrome b-245, beta polypeptide
  • CYLD: cylindromatosis (turban tumor syndrome)
  • CYP11B1: cytochrome P450, family 11, subfamily B, polypeptide 1
  • CYP11B2: cytochrome P450, family 11, subfamily B, polypeptide 2
  • CYP19A1: cytochrome P450, family 19, subfamily A, polypeptide 1
  • CYP1B1: cytochrome P450, family 1, subfamily B, polypeptide 1
  • CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2
  • CYP27A1: cytochrome P450, family 27, subfamily A, polypeptide 1
  • CYP27B1: cytochrome P450, family 27, subfamily B, polypeptide 1
  • D2HGDH: D-2-hydroxyglutarate dehydrogenase
  • DARS2: aspartyl-tRNA synthetase 2, mitochondrial
  • DBH: dopamine beta-hydroxylase (dopamine beta-monooxygenase)
  • DBT: dihydrolipoamide branched chain transacylase E2
  • DCN: decorin
  • DCTN1: dynactin 1
  • DCX: doublecortin
  • DDX11: DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
  • DES: desmin
  • DGUOK: deoxyguanosine kinase
  • DHCR24: 24-dehydrocholesterol reductase
  • DHCR7: 7-dehydrocholesterol reductase
  • DHODH: dihydroorotate dehydrogenase (quinone)
  • DKC1: dyskeratosis congenita 1, dyskerin
  • DLAT: dihydrolipoamide S-acetyltransferase
  • DLD: dihydrolipoamide dehydrogenase
  • DMPK: dystrophia myotonica-protein kinase
  • DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
  • DNAJC5: DnaJ (Hsp40) homolog, subfamily C, member 5
  • DNM2: dynamin 2
  • DNMT3A: DNA (cytosine-5-)-methyltransferase 3 alpha
  • DUX4: double homeobox 4
  • DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
  • EBP: emopamil binding protein (sterol isomerase)
  • EFTUD2: elongation factor Tu GTP binding domain containing 2
  • EHMT1: euchromatic histone-lysine N-methyltransferase 1
  • ELOVL4: ELOVL fatty acid elongase 4
  • EMD: emerin
  • ENG: endoglin
  • EP300: E1A binding protein p300
  • EPAS1: endothelial PAS domain protein 1
  • ERAP1: endoplasmic reticulum aminopeptidase 1
  • ERBB2: v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
  • ERCC2: excision repair cross-complementation group 2
  • ERCC3: excision repair cross-complementation group 3
  • ERCC6: excision repair cross-complementation group 6
  • ERCC8: excision repair cross-complementation group 8
  • ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
  • ESPN: espin
  • ETFA: electron-transfer-flavoprotein, alpha polypeptide
  • ETFB: electron-transfer-flavoprotein, beta polypeptide
  • ETFDH: electron-transferring-flavoprotein dehydrogenase
  • ETHE1: ethylmalonic encephalopathy 1
  • ETV6: ets variant 6
  • EVC: Ellis van Creveld syndrome
  • EWSR1: EWS RNA-binding protein 1
  • EXOSC3: exosome component 3
  • EXT1: exostosin glycosyltransferase 1
  • EXT2: exostosin glycosyltransferase 2
  • EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit
  • F2: coagulation factor II (thrombin)
  • F5: coagulation factor V (proaccelerin, labile factor)
  • F8: coagulation factor VIII, procoagulant component
  • F9: coagulation factor IX
  • FANCA: Fanconi anemia, complementation group A
  • FANCC: Fanconi anemia, complementation group C
  • FANCG: Fanconi anemia, complementation group G
  • FECH: ferrochelatase
  • FGA: fibrinogen alpha chain
  • FGB: fibrinogen beta chain
  • FGFR2: fibroblast growth factor receptor 2
  • FGFR4: fibroblast growth factor receptor 4
  • FGG: fibrinogen gamma chain
  • FH: fumarate hydratase
  • FIG4: FIG4 phosphoinositide 5-phosphatase
  • FIP1L1: FIP1 like 1 (S. cerevisiae)
  • FKBP10: FK506 binding protein 10, 65 kDa
  • FLNA: filamin A, alpha
  • FMO3: flavin containing monooxygenase 3
  • FMR1: fragile X mental retardation 1
  • FOXC1: forkhead box C1
  • FUS: FUS RNA binding protein
  • FXN: frataxin
  • FZD4: frizzled class receptor 4
  • G6PC: glucose-6-phosphatase, catalytic subunit
  • G6PD: glucose-6-phosphate dehydrogenase
  • GAA: glucosidase, alpha; acid
  • GALC: galactosylceramidase
  • GALNS: galactosamine (N-acetyl)-6-sulfatase
  • GALNT3: polypeptide N-acetylgalactosaminyltransferase 3
  • GARS: glycyl-tRNA synthetase
  • GATA1: GATA binding protein 1 (globin transcription factor 1)
  • GATM: glycine amidinotransferase (L-arginine:glycine amidinotransferase)
  • GBA: glucosidase, beta, acid
  • GCDH: glutaryl-CoA dehydrogenase
  • GCH1: GTP cyclohydrolase 1
  • GDAP1: ganglioside induced differentiation associated protein 1
  • GFAP: glial fibrillary acidic protein
  • GHRHR: growth hormone releasing hormone receptor
  • GJA1: gap junction protein, alpha 1, 43kDa
  • GJB1: gap junction protein, beta 1, 32kDa
  • GLA: galactosidase, alpha
  • GLB1: galactosidase, beta 1
  • GLI3: GLI family zinc finger 3
  • GM2A: GM2 ganglioside activator
  • GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
  • GNAS: GNAS complex locus
  • GNPAT: glyceronephosphate O-acyltransferase
  • GNPTAB: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
  • GNS: glucosamine (N-acetyl)-6-sulfatase
  • GPC3: glypican 3
  • GPI: glucose-6-phosphate isomerase
  • GPR143: G protein-coupled receptor 143
  • GRHPR: glyoxylate reductase/hydroxypyruvate reductase
  • GRM6: glutamate receptor, metabotropic 6
  • GTF2I: general transcription factor IIi
  • GTF2IRD1: GTF2I repeat domain containing 1
  • GUCY2D: guanylate cyclase 2D, membrane (retina-specific)
  • GUSB: glucuronidase, beta
  • GYS2: glycogen synthase 2 (liver)
  • HADH: hydroxyacyl-CoA dehydrogenase
  • HADHA: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
  • HADHB: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
  • HARS2: histidyl-tRNA synthetase 2, mitochondrial
  • HAX1: HCLS1 associated protein X-1
  • HBA2: hemoglobin, alpha 2
  • HBB: hemoglobin, beta
  • HCCS: holocytochrome c synthase
  • HEXA: hexosaminidase A (alpha polypeptide)
  • HEXB: hexosaminidase B (beta polypeptide)
  • HGSNAT: heparan-alpha-glucosaminide N-acetyltransferase
  • HINT1: histidine triad nucleotide binding protein 1
  • HLA-B: major histocompatibility complex, class I, B
  • HLA-DPB1: major histocompatibility complex, class II, DP beta 1
  • HLA-DQA1: major histocompatibility complex, class II, DQ alpha 1
  • HLA-DQB1: major histocompatibility complex, class II, DQ beta 1
  • HLA-DRB1: major histocompatibility complex, class II, DR beta 1
  • HLCS: holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
  • HMGCL: 3-hydroxymethyl-3-methylglutaryl-CoA lyase
  • HOXA13: homeobox A13
  • HSD17B10: hydroxysteroid (17-beta) dehydrogenase 10
  • HSD17B3: hydroxysteroid (17-beta) dehydrogenase 3
  • HSD17B4: hydroxysteroid (17-beta) dehydrogenase 4
  • HSD3B2: hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • HSPB8: heat shock 22kDa protein 8
  • HTT: huntingtin
  • IDH1: isocitrate dehydrogenase 1 (NADP+), soluble
  • IDH2: isocitrate dehydrogenase 2 (NADP+), mitochondrial
  • IDS: iduronate 2-sulfatase
  • IDUA: iduronidase, alpha-L-
  • IFT140: intraflagellar transport 140
  • IFT43: intraflagellar transport 43
  • IFT80: intraflagellar transport 80
  • 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
  • INS: insulin
  • INSR: insulin receptor
  • IRAK4: interleukin-1 receptor-associated kinase 4
  • ISCU: iron-sulfur cluster assembly enzyme
  • ITM2B: integral membrane protein 2B
  • IVD: isovaleryl-CoA dehydrogenase
  • JAK2: Janus kinase 2
  • JPH3: junctophilin 3
  • KANSL1: KAT8 regulatory NSL complex subunit 1
  • KAT6B: K(lysine) acetyltransferase 6B
  • KDM6A: lysine (K)-specific demethylase 6A
  • KIF1B: kinesin family member 1B
  • KIF21A: kinesin family member 21A
  • KMT2D: lysine (K)-specific methyltransferase 2D
  • KRIT1: KRIT1, ankyrin repeat containing
  • KRT10: keratin 10
  • KRT13: keratin 13
  • KRT14: keratin 14
  • KRT16: keratin 16
  • KRT17: keratin 17
  • KRT3: keratin 3
  • KRT4: keratin 4
  • KRT5: keratin 5
  • KRT6C: keratin 6C
  • L2HGDH: L-2-hydroxyglutarate dehydrogenase
  • LAMP2: lysosomal-associated membrane protein 2
  • LARGE: like-glycosyltransferase
  • LARS2: leucyl-tRNA synthetase 2, mitochondrial
  • LBR: lamin B receptor
  • LDLR: low density lipoprotein receptor
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LEMD3: LEM domain containing 3
  • LETM1: leucine zipper-EF-hand containing transmembrane protein 1
  • LIMK1: LIM domain kinase 1
  • LITAF: lipopolysaccharide-induced TNF factor
  • LMNA: lamin A/C
  • LPIN2: lipin 2
  • LRP2: low density lipoprotein receptor-related protein 2
  • LRRK2: leucine-rich repeat kinase 2
  • MAGT1: magnesium transporter 1
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MAPT: microtubule-associated protein tau
  • MATR3: matrin 3
  • MCCC1: methylcrotonoyl-CoA carboxylase 1 (alpha)
  • MCCC2: methylcrotonoyl-CoA carboxylase 2 (beta)
  • MCEE: methylmalonyl CoA epimerase
  • MCM6: minichromosome maintenance complex component 6
  • MCOLN1: mucolipin 1
  • MECP2: methyl CpG binding protein 2
  • MED12: mediator complex subunit 12
  • MEFV: Mediterranean fever
  • MEN1: multiple endocrine neoplasia I
  • MFN2: mitofusin 2
  • MFSD8: major facilitator superfamily domain containing 8
  • MID1: midline 1
  • MKKS: McKusick-Kaufman syndrome
  • MLH1: mutL homolog 1
  • MLYCD: malonyl-CoA decarboxylase
  • MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
  • MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type
  • MMP14: matrix metallopeptidase 14 (membrane-inserted)
  • MPLKIP: M-phase specific PLK1 interacting protein
  • MPV17: MpV17 mitochondrial inner membrane protein
  • MSH2: mutS homolog 2
  • MSH6: mutS homolog 6
  • MSX1: msh homeobox 1
  • MT-ATP6: mitochondrially encoded ATP synthase 6
  • MT-CYB: mitochondrially encoded cytochrome b
  • MT-ND1: mitochondrially encoded NADH dehydrogenase 1
  • MT-ND4: mitochondrially encoded NADH dehydrogenase 4
  • MT-ND4L: mitochondrially encoded NADH dehydrogenase 4L
  • MT-ND5: mitochondrially encoded NADH dehydrogenase 5
  • MT-ND6: mitochondrially encoded NADH dehydrogenase 6
  • MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • MTTP: microsomal triglyceride transfer protein
  • MUC1: mucin 1, cell surface associated
  • MUT: methylmalonyl CoA mutase
  • MUTYH: mutY homolog
  • MYBPC3: myosin binding protein C, cardiac
  • MYCN: v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
  • MYH11: myosin, heavy chain 11, smooth muscle
  • MYH3: myosin, heavy chain 3, skeletal muscle, embryonic
  • MYH6: myosin, heavy chain 6, cardiac muscle, alpha
  • MYH7: myosin, heavy chain 7, cardiac muscle, beta
  • MYH9: myosin, heavy chain 9, non-muscle
  • MYO1A: myosin IA
  • MYO5A: myosin VA (heavy chain 12, myoxin)
  • MYO5B: myosin VB
  • MYO6: myosin VI
  • MYO7A: myosin VIIA
  • MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
  • NAGLU: N-acetylglucosaminidase, alpha
  • NAGS: N-acetylglutamate synthase
  • NBN: nibrin
  • NCF2: neutrophil cytosolic factor 2
  • NCF4: neutrophil cytosolic factor 4, 40kDa
  • NCSTN: nicastrin
  • NDRG1: N-myc downstream regulated 1
  • NEFH: neurofilament, heavy polypeptide
  • NEFL: neurofilament, light polypeptide
  • NEFM: neurofilament, medium polypeptide
  • NEU1: sialidase 1 (lysosomal sialidase)
  • NF2: neurofibromin 2 (merlin)
  • NGF: nerve growth factor (beta polypeptide)
  • NIPBL: Nipped-B homolog (Drosophila)
  • NOD2: nucleotide-binding oligomerization domain containing 2
  • NOTCH2: notch 2
  • NOTCH3: notch 3
  • NPC1: Niemann-Pick disease, type C1
  • NPM1: nucleophosmin (nucleolar phosphoprotein B23, numatrin)
  • NR0B1: nuclear receptor subfamily 0, group B, member 1
  • NR3C2: nuclear receptor subfamily 3, group C, member 2
  • NR4A2: nuclear receptor subfamily 4, group A, member 2
  • NR5A1: nuclear receptor subfamily 5, group A, member 1
  • NSD1: nuclear receptor binding SET domain protein 1
  • NSDHL: NAD(P) dependent steroid dehydrogenase-like
  • OAT: ornithine aminotransferase
  • OCA2: oculocutaneous albinism II
  • OCRL: oculocerebrorenal syndrome of Lowe
  • OFD1: oral-facial-digital syndrome 1
  • OPA1: optic atrophy 1 (autosomal dominant)
  • ORC1: origin recognition complex, subunit 1
  • ORC4: origin recognition complex, subunit 4
  • ORC6: origin recognition complex, subunit 6
  • OTC: ornithine carbamoyltransferase
  • OTOF: otoferlin
  • OXCT1: 3-oxoacid CoA transferase 1
  • P3H1: prolyl 3-hydroxylase 1
  • PABPN1: poly(A) binding protein, nuclear 1
  • PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
  • PALB2: partner and localizer of BRCA2
  • PANK2: pantothenate kinase 2
  • PARK7: parkinson protein 7
  • PAX2: paired box 2
  • PAX6: paired box 6
  • PAX8: paired box 8
  • PC: pyruvate carboxylase
  • PCBD1: pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
  • PCCA: propionyl CoA carboxylase, alpha polypeptide
  • PCCB: propionyl CoA carboxylase, beta polypeptide
  • PCNT: pericentrin
  • PDGFB: platelet-derived growth factor beta polypeptide
  • PDHA1: pyruvate dehydrogenase (lipoamide) alpha 1
  • PDHB: pyruvate dehydrogenase (lipoamide) beta
  • PDHX: pyruvate dehydrogenase complex, component X
  • PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
  • PEX1: peroxisomal biogenesis factor 1
  • PEX7: peroxisomal biogenesis factor 7
  • PGAP2: post-GPI attachment to proteins 2
  • PHOX2A: paired-like homeobox 2a
  • PHOX2B: paired-like homeobox 2b
  • PHYH: phytanoyl-CoA 2-hydroxylase
  • PIGA: phosphatidylinositol glycan anchor biosynthesis, class A
  • PIGO: phosphatidylinositol glycan anchor biosynthesis, class O
  • PIGV: phosphatidylinositol glycan anchor biosynthesis, class V
  • PINK1: PTEN induced putative kinase 1
  • PITX2: paired-like homeodomain 2
  • PKD2: polycystic kidney disease 2 (autosomal dominant)
  • PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
  • PKP2: plakophilin 2
  • PLA2G6: phospholipase A2, group VI (cytosolic, calcium-independent)
  • PLAGL1: pleiomorphic adenoma gene-like 1
  • PLG: plasminogen
  • PLOD1: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
  • PML: promyelocytic leukemia
  • PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • PNPLA2: patatin-like phospholipase domain containing 2
  • PNPO: pyridoxamine 5'-phosphate oxidase
  • POLG: polymerase (DNA directed), gamma
  • POLH: polymerase (DNA directed), eta
  • POLR1C: polymerase (RNA) I polypeptide C, 30kDa
  • POLR1D: polymerase (RNA) I polypeptide D, 16kDa
  • POLR3A: polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
  • POLR3B: polymerase (RNA) III (DNA directed) polypeptide B
  • POMC: proopiomelanocortin
  • POMT1: protein-O-mannosyltransferase 1
  • PPOX: protoporphyrinogen oxidase
  • PPP1R12A: protein phosphatase 1, regulatory subunit 12A
  • PQBP1: polyglutamine binding protein 1
  • PRICKLE1: prickle homolog 1 (Drosophila)
  • PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
  • PROC: protein C (inactivator of coagulation factors Va and VIIIa)
  • PRODH: proline dehydrogenase (oxidase) 1
  • PROS1: protein S (alpha)
  • PRPH: peripherin
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • PSMB8: proteasome (prosome, macropain) subunit, beta type, 8
  • PTEN: phosphatase and tensin homolog
  • RAB23: RAB23, member RAS oncogene family
  • RAB27A: RAB27A, member RAS oncogene family
  • RAB7A: RAB7A, member RAS oncogene family
  • RAD50: RAD50 homolog (S. cerevisiae)
  • RAD51: RAD51 recombinase
  • RAF1: Raf-1 proto-oncogene, serine/threonine kinase
  • RAI1: retinoic acid induced 1
  • RAPSN: receptor-associated protein of the synapse
  • RARA: retinoic acid receptor, alpha
  • RARS2: arginyl-tRNA synthetase 2, mitochondrial
  • RB1: retinoblastoma 1
  • RBM8A: RNA binding motif protein 8A
  • RBPJ: recombination signal binding protein for immunoglobulin kappa J region
  • RET: ret proto-oncogene
  • RNASEH2B: ribonuclease H2, subunit B
  • ROR2: receptor tyrosine kinase-like orphan receptor 2
  • RP2: retinitis pigmentosa 2 (X-linked recessive)
  • 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
  • RUNX1: runt-related transcription factor 1
  • RUNX1T1: runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
  • RUNX2: runt-related transcription factor 2
  • RYR1: ryanodine receptor 1 (skeletal)
  • RYR2: ryanodine receptor 2 (cardiac)
  • SAA1: serum amyloid A1
  • SALL1: spalt-like transcription factor 1
  • SALL4: spalt-like transcription factor 4
  • SAMHD1: SAM domain and HD domain 1
  • SAR1B: secretion associated, Ras related GTPase 1B
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SDHA: succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
  • SDHB: succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
  • SDHC: succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
  • SDHD: succinate dehydrogenase complex, subunit D, integral membrane protein
  • SEPT9: septin 9
  • SERAC1: serine active site containing 1
  • SERPINA1: serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
  • SERPING1: serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
  • SETX: senataxin
  • SGSH: N-sulfoglucosamine sulfohydrolase
  • SIX1: SIX homeobox 1
  • SIX5: SIX homeobox 5
  • SKI: SKI proto-oncogene
  • SKIV2L: superkiller viralicidic activity 2-like (S. cerevisiae)
  • SLC11A2: solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
  • SLC17A5: solute carrier family 17 (acidic sugar transporter), member 5
  • SLC25A1: solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
  • SLC25A13: solute carrier family 25 (aspartate/glutamate carrier), member 13
  • SLC25A15: solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
  • SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
  • SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
  • SLC29A3: solute carrier family 29 (equilibrative nucleoside transporter), member 3
  • SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
  • SLC37A4: solute carrier family 37 (glucose-6-phosphate transporter), member 4
  • SLC9A6: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
  • 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
  • SMARCAL1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
  • 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
  • SMPD1: sphingomyelin phosphodiesterase 1, acid lysosomal
  • SNAI2: snail family zinc finger 2
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SOD1: superoxide dismutase 1, soluble
  • SOX2: SRY (sex determining region Y)-box 2
  • SOX9: SRY (sex determining region Y)-box 9
  • SP110: SP110 nuclear body protein
  • SPG11: spastic paraplegia 11 (autosomal recessive)
  • SPG20: spastic paraplegia 20 (Troyer syndrome)
  • SPINK5: serine peptidase inhibitor, Kazal type 5
  • SPR: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
  • SPRED1: sprouty-related, EVH1 domain containing 1
  • SPTLC1: serine palmitoyltransferase, long chain base subunit 1
  • SQSTM1: sequestosome 1
  • SRCAP: Snf2-related CREBBP activator protein
  • SRD5A2: steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
  • ST3GAL5: ST3 beta-galactoside alpha-2,3-sialyltransferase 5
  • STAMBP: STAM binding protein
  • STAT3: signal transducer and activator of transcription 3 (acute-phase response factor)
  • STAT4: signal transducer and activator of transcription 4
  • STIM1: stromal interaction molecule 1
  • STRC: stereocilin
  • SUCLA2: succinate-CoA ligase, ADP-forming, beta subunit
  • SUCLG1: succinate-CoA ligase, alpha subunit
  • SUMF1: sulfatase modifying factor 1
  • SURF1: surfeit 1
  • SYNE1: spectrin repeat containing, nuclear envelope 1
  • T: T, brachyury homolog (mouse)
  • TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
  • TARDBP: TAR DNA binding protein
  • TAZ: tafazzin
  • TBP: TATA box binding protein
  • TBX5: T-box 5
  • TBXAS1: thromboxane A synthase 1 (platelet)
  • TCIRG1: T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
  • TCN2: transcobalamin II
  • TCOF1: Treacher Collins-Franceschetti syndrome 1
  • TEK: TEK tyrosine kinase, endothelial
  • TERT: telomerase reverse transcriptase
  • TFAP2A: transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
  • TGFB1: transforming growth factor, beta 1
  • TGFB2: transforming growth factor, beta 2
  • TGFBI: transforming growth factor, beta-induced, 68kDa
  • TGIF1: TGFB-induced factor homeobox 1
  • TH: tyrosine hydroxylase
  • TIMM8A: translocase of inner mitochondrial membrane 8 homolog A (yeast)
  • TINF2: TERF1 (TRF1)-interacting nuclear factor 2
  • TK2: thymidine kinase 2, mitochondrial
  • TMEM173: transmembrane protein 173
  • TMPRSS3: transmembrane protease, serine 3
  • TNFRSF1A: tumor necrosis factor receptor superfamily, member 1A
  • TNNI3: troponin I type 3 (cardiac)
  • TNNT2: troponin T type 2 (cardiac)
  • TOR1A: torsin family 1, member A (torsin A)
  • TP53: tumor protein p53
  • TP63: tumor protein p63
  • TPM2: tropomyosin 2 (beta)
  • TPM3: tropomyosin 3
  • TPP1: tripeptidyl peptidase I
  • TREX1: three prime repair exonuclease 1
  • TRPS1: trichorhinophalangeal syndrome I
  • TRPV4: transient receptor potential cation channel, subfamily V, member 4
  • TSC1: tuberous sclerosis 1
  • TSEN2: tRNA splicing endonuclease 2 homolog (S. cerevisiae)
  • TSEN34: TSEN34 tRNA splicing endonuclease subunit
  • TTC37: tetratricopeptide repeat domain 37
  • TTN: titin
  • TUBA1A: tubulin, alpha 1a
  • TYR: tyrosinase
  • TYRP1: tyrosinase-related protein 1
  • UBA1: ubiquitin-like modifier activating enzyme 1
  • UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
  • UGT1A1: UDP glucuronosyltransferase 1 family, polypeptide A1
  • UMOD: uromodulin
  • UROD: uroporphyrinogen decarboxylase
  • VAPB: VAMP (vesicle-associated membrane protein)-associated protein B and C
  • VCAN: versican
  • VCP: valosin containing protein
  • VDR: vitamin D (1,25- dihydroxyvitamin D3) receptor
  • VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • VRK1: vaccinia related kinase 1
  • VWF: von Willebrand factor
  • WDR19: WD repeat domain 19
  • WDR35: WD repeat domain 35
  • WFS1: Wolfram syndrome 1 (wolframin)
  • WHSC1: Wolf-Hirschhorn syndrome candidate 1
  • 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
  • XPA: xeroderma pigmentosum, complementation group A
  • XPC: xeroderma pigmentosum, complementation group C
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
  • ZFYVE26: zinc finger, FYVE domain containing 26
  • ZMYM2: zinc finger, MYM-type 2

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

 
Published: December 22, 2014