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Organelle organization

Organelle organization

  • AAAS: achalasia, adrenocortical insufficiency, alacrimia
  • ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
  • ABCD1: ATP-binding cassette, sub-family D (ALD), member 1
  • ACOX1: acyl-CoA oxidase 1, palmitoyl
  • ACTA1: actin, alpha 1, skeletal muscle
  • ACTB: actin, beta
  • AIP: aryl hydrocarbon receptor interacting protein
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALMS1: Alstrom syndrome 1
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • ANK1: ankyrin 1, erythrocytic
  • APC: adenomatous polyposis coli
  • APOA1: apolipoprotein A-I
  • APOE: apolipoprotein E
  • 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: ATM serine/threonine kinase
  • 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
  • ATP6V0A4: ATPase, H+ transporting, lysosomal V0 subunit a4
  • ATP6V1B1: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
  • ATP7A: ATPase, Cu++ transporting, alpha polypeptide
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked
  • ATXN2: ataxin 2
  • ATXN3: ataxin 3
  • AVP: arginine vasopressin
  • BBS1: Bardet-Biedl syndrome 1
  • BBS10: Bardet-Biedl syndrome 10
  • BCOR: BCL6 corepressor
  • BCS1L: BC1 (ubiquinol-cytochrome c reductase) synthesis-like
  • 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
  • CAPN3: calpain 3, (p94)
  • CAV3: caveolin 3
  • CDAN1: codanin 1
  • CDC6: cell division cycle 6
  • CDC73: cell division cycle 73
  • CEP290: centrosomal protein 290kDa
  • CHEK2: checkpoint kinase 2
  • CLN3: ceroid-lipofuscinosis, neuronal 3
  • CLN5: ceroid-lipofuscinosis, neuronal 5
  • CLN6: ceroid-lipofuscinosis, neuronal 6, late infantile, variant
  • CLRN1: clarin 1
  • CREBBP: CREB binding protein
  • CSF1R: colony stimulating factor 1 receptor
  • 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
  • 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
  • DDX11: DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
  • DES: desmin
  • DKC1: dyskeratosis congenita 1, dyskerin
  • DMD: dystrophin
  • DMPK: dystrophia myotonica-protein kinase
  • DNAJC19: DnaJ (Hsp40) homolog, subfamily C, member 19
  • DNMT1: DNA (cytosine-5-)-methyltransferase 1
  • DRD3: dopamine receptor D3
  • DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
  • EDN3: endothelin 3
  • EHMT1: euchromatic histone-lysine N-methyltransferase 1
  • EMD: emerin
  • EP300: E1A binding protein p300
  • EYA1: EYA transcriptional coactivator and phosphatase 1
  • EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit
  • FANCG: Fanconi anemia, complementation group G
  • FGD1: FYVE, RhoGEF and PH domain containing 1
  • FGD4: FYVE, RhoGEF and PH domain containing 4
  • FGF10: fibroblast growth factor 10
  • FLCN: folliculin
  • FLNA: filamin A, alpha
  • FLNB: filamin B, beta
  • FOXP3: forkhead box P3
  • FXN: frataxin
  • GAA: glucosidase, alpha; acid
  • GATA1: GATA binding protein 1 (globin transcription factor 1)
  • GDAP1: ganglioside induced differentiation associated protein 1
  • GNPTAB: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
  • GPR143: G protein-coupled receptor 143
  • GSN: gelsolin
  • HAX1: HCLS1 associated protein X-1
  • HLCS: holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
  • HPS1: Hermansky-Pudlak syndrome 1
  • HRAS: Harvey rat sarcoma viral oncogene homolog
  • HTT: huntingtin
  • IFT122: intraflagellar transport 122
  • 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
  • IL1A: interleukin 1, alpha
  • INS: insulin
  • JAK2: Janus kinase 2
  • KANSL1: KAT8 regulatory NSL complex subunit 1
  • KAT6B: K(lysine) acetyltransferase 6B
  • KDM6A: lysine (K)-specific demethylase 6A
  • KIT: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
  • KMT2D: lysine (K)-specific methyltransferase 2D
  • KRT13: keratin 13
  • KRT14: keratin 14
  • KRT16: keratin 16
  • KRT3: keratin 3
  • KRT4: keratin 4
  • KRT6C: keratin 6C
  • LETM1: leucine zipper-EF-hand containing transmembrane protein 1
  • LIMK1: LIM domain kinase 1
  • LMNA: lamin A/C
  • 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
  • MKKS: McKusick-Kaufman syndrome
  • MPV17: MpV17 mitochondrial inner membrane protein
  • MSH2: mutS homolog 2
  • MSH6: mutS homolog 6
  • MTM1: myotubularin 1
  • MUC1: mucin 1, cell surface associated
  • MYH11: myosin, heavy chain 11, smooth muscle
  • MYH3: myosin, heavy chain 3, skeletal muscle, embryonic
  • MYH6: myosin, heavy chain 6, cardiac muscle, alpha
  • MYH9: myosin, heavy chain 9, non-muscle
  • MYO7A: myosin VIIA
  • MYOC: myocilin, trabecular meshwork inducible glucocorticoid response
  • NBN: nibrin
  • NCF1: neutrophil cytosolic factor 1
  • NCF2: neutrophil cytosolic factor 2
  • NCF4: neutrophil cytosolic factor 4, 40kDa
  • NDP: Norrie disease (pseudoglioma)
  • NEB: nebulin
  • NEFH: neurofilament, heavy polypeptide
  • NEFL: neurofilament, light polypeptide
  • NEFM: neurofilament, medium polypeptide
  • NF1: neurofibromin 1
  • NF2: neurofibromin 2 (merlin)
  • NIPBL: Nipped-B homolog (Drosophila)
  • NPHP1: nephronophthisis 1 (juvenile)
  • NPM1: nucleophosmin (nucleolar phosphoprotein B23, numatrin)
  • NSD1: nuclear receptor binding SET domain protein 1
  • OCRL: oculocerebrorenal syndrome of Lowe
  • OPA1: optic atrophy 1 (autosomal dominant)
  • PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
  • PARK2: parkin RBR E3 ubiquitin protein ligase
  • PARK7: parkinson protein 7
  • PCNT: pericentrin
  • 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
  • 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
  • PML: promyelocytic leukemia
  • PPP1R12A: protein phosphatase 1, regulatory subunit 12A
  • PPT1: palmitoyl-protein thioesterase 1
  • 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
  • RASA1: RAS p21 protein activator (GTPase activating protein) 1
  • RB1: retinoblastoma 1
  • RPGR: retinitis pigmentosa GTPase regulator
  • RPS17: ribosomal protein S17
  • RPS19: ribosomal protein S19
  • SALL1: spalt-like transcription factor 1
  • SAR1B: secretion associated, Ras related GTPase 1B
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), 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
  • 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
  • SPAST: spastin
  • SRCAP: Snf2-related CREBBP activator protein
  • SYNE1: spectrin repeat containing, nuclear envelope 1
  • TAF1: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
  • TAZ: tafazzin
  • 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
  • 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
  • TPP1: tripeptidyl peptidase I
  • TRIOBP: TRIO and F-actin binding protein
  • TRPV4: transient receptor potential cation channel, subfamily V, member 4
  • TSC1: tuberous sclerosis 1
  • TTN: titin
  • TWIST1: twist family bHLH transcription factor 1
  • TYMP: thymidine phosphorylase
  • VRK1: vaccinia related kinase 1
  • WAS: Wiskott-Aldrich syndrome
  • WDR19: WD repeat domain 19
  • WDR35: WD repeat domain 35
  • WRN: Werner syndrome, RecQ helicase-like
  • XPC: xeroderma pigmentosum, complementation group C
  • YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
  • ZEB2: zinc finger E-box binding homeobox 2

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

 
Published: October 20, 2014