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Intracellular non-membrane-bounded organelle

Intracellular non-membrane-bounded organelle

  • AAAS: achalasia, adrenocortical insufficiency, alacrimia
  • ABHD5: abhydrolase domain containing 5
  • ACADVL: acyl-CoA dehydrogenase, very long chain
  • ACTA1: actin, alpha 1, skeletal muscle
  • ACTB: actin, beta
  • ACTG1: actin, gamma 1
  • AGPS: alkylglycerone phosphate synthase
  • AKT1: v-akt murine thymoma viral oncogene homolog 1
  • ALDOB: aldolase B, fructose-bisphosphate
  • ALMS1: Alstrom syndrome 1
  • ALS2: amyotrophic lateral sclerosis 2 (juvenile)
  • ANG: angiogenin, ribonuclease, RNase A family, 5
  • ANK1: ankyrin 1, erythrocytic
  • ANK2: ankyrin 2, neuronal
  • APC: adenomatous polyposis coli
  • APOB: apolipoprotein B
  • APTX: aprataxin
  • AR: androgen receptor
  • ARFGEF2: ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
  • ARID1A: AT rich interactive domain 1A (SWI-like)
  • ATM: ATM serine/threonine kinase
  • ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
  • ATRX: alpha thalassemia/mental retardation syndrome X-linked
  • ATXN2: ataxin 2
  • BARD1: BRCA1 associated RING domain 1
  • BIN1: bridging integrator 1
  • BLM: Bloom syndrome, RecQ helicase-like
  • BRCA1: breast cancer 1, early onset
  • BRCA2: breast cancer 2, early onset
  • 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
  • CAPN3: calpain 3, (p94)
  • CASK: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CASQ2: calsequestrin 2 (cardiac muscle)
  • CAV3: caveolin 3
  • CDC6: cell division cycle 6
  • CDH1: cadherin 1, type 1, E-cadherin (epithelial)
  • CDH23: cadherin-related 23
  • CEP290: centrosomal protein 290kDa
  • CHEK2: checkpoint kinase 2
  • CIRH1A: cirrhosis, autosomal recessive 1A (cirhin)
  • CLIP2: CAP-GLY domain containing linker protein 2
  • CPS1: carbamoyl-phosphate synthase 1, mitochondrial
  • CPT2: carnitine palmitoyltransferase 2
  • CREBBP: CREB binding 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
  • CUL7: cullin 7
  • CYLD: cylindromatosis (turban tumor syndrome)
  • DBT: dihydrolipoamide branched chain transacylase E2
  • DCTN1: dynactin 1
  • DCX: doublecortin
  • DDX11: DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
  • DES: desmin
  • DFNB31: deafness, autosomal recessive 31
  • DKC1: dyskeratosis congenita 1, dyskerin
  • DMD: dystrophin
  • DNAI1: dynein, axonemal, intermediate chain 1
  • DNM2: dynamin 2
  • DNMT3A: DNA (cytosine-5-)-methyltransferase 3 alpha
  • DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
  • EDA: ectodysplasin A
  • ERCC2: excision repair cross-complementation group 2
  • ERCC6: excision repair cross-complementation group 6
  • ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
  • ESPN: espin
  • ETV6: ets variant 6
  • EVC: Ellis van Creveld syndrome
  • EZH2: enhancer of zeste 2 polycomb repressive complex 2 subunit
  • FANCA: Fanconi anemia, complementation group A
  • FANCG: Fanconi anemia, complementation group G
  • FGD4: FYVE, RhoGEF and PH domain containing 4
  • FLNA: filamin A, alpha
  • FLNB: filamin B, beta
  • FMR1: fragile X mental retardation 1
  • FOXC1: forkhead box C1
  • GFAP: glial fibrillary acidic protein
  • GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
  • GSN: gelsolin
  • GYS2: glycogen synthase 2 (liver)
  • 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
  • HAX1: HCLS1 associated protein X-1
  • HBA2: hemoglobin, alpha 2
  • HINT1: histidine triad nucleotide binding protein 1
  • HLCS: holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
  • HOXA13: homeobox A13
  • HSPB1: heat shock 27kDa protein 1
  • IFT140: intraflagellar transport 140
  • IFT43: intraflagellar transport 43
  • IFT80: intraflagellar transport 80
  • IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
  • KAT6B: K(lysine) acetyltransferase 6B
  • KCNE1: potassium voltage-gated channel, Isk-related family, member 1
  • KIF1B: kinesin family member 1B
  • KIF21A: kinesin family member 21A
  • KRIT1: KRIT1, ankyrin repeat containing
  • KRT1: keratin 1
  • 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
  • LDB3: LIM domain binding 3
  • LDLRAP1: low density lipoprotein receptor adaptor protein 1
  • LMNA: lamin A/C
  • LOR: loricrin
  • LYST: lysosomal trafficking regulator
  • MAP2K2: mitogen-activated protein kinase kinase 2
  • MAPT: microtubule-associated protein tau
  • MECP2: methyl CpG binding protein 2
  • MEFV: Mediterranean fever
  • MEN1: multiple endocrine neoplasia I
  • MID1: midline 1
  • MKKS: McKusick-Kaufman syndrome
  • MLH1: mutL homolog 1
  • MPLKIP: M-phase specific PLK1 interacting protein
  • MSH2: mutS homolog 2
  • MSH6: mutS homolog 6
  • MTMR2: myotubularin related protein 2
  • MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
  • MUC1: mucin 1, cell surface associated
  • MYBPC1: myosin binding protein C, slow type
  • 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
  • MYO6: myosin VI
  • MYOT: myotilin
  • NBN: nibrin
  • NCF2: neutrophil cytosolic factor 2
  • NDRG1: N-myc downstream regulated 1
  • NEB: nebulin
  • NEFH: neurofilament, heavy polypeptide
  • NEFL: neurofilament, light polypeptide
  • NEFM: neurofilament, medium polypeptide
  • NF2: neurofibromin 2 (merlin)
  • NOD2: nucleotide-binding oligomerization domain containing 2
  • NOTCH3: notch 3
  • NPM1: nucleophosmin (nucleolar phosphoprotein B23, numatrin)
  • NR0B1: nuclear receptor subfamily 0, group B, member 1
  • NSDHL: NAD(P) dependent steroid dehydrogenase-like
  • OFD1: oral-facial-digital syndrome 1
  • ORC1: origin recognition complex, subunit 1
  • ORC4: origin recognition complex, subunit 4
  • ORC6: origin recognition complex, subunit 6
  • PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
  • PARK7: parkinson protein 7
  • PAX2: paired box 2
  • PAX6: paired box 6
  • PCDH15: protocadherin-related 15
  • PCNT: pericentrin
  • PHOX2A: paired-like homeobox 2a
  • 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
  • PML: promyelocytic leukemia
  • PMS2: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
  • PNPLA2: patatin-like phospholipase domain containing 2
  • POLG: polymerase (DNA directed), gamma
  • POLR1C: polymerase (RNA) I polypeptide C, 30kDa
  • POLR1D: polymerase (RNA) I polypeptide D, 16kDa
  • PPP1R12A: protein phosphatase 1, regulatory subunit 12A
  • PRPH: peripherin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • RAD50: RAD50 homolog (S. cerevisiae)
  • RAD51: RAD51 recombinase
  • RARA: retinoic acid receptor, alpha
  • RB1: retinoblastoma 1
  • RBPJ: recombination signal binding protein for immunoglobulin kappa J region
  • 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
  • RPS7: ribosomal protein S7
  • RUNX2: runt-related transcription factor 2
  • RYR1: ryanodine receptor 1 (skeletal)
  • RYR2: ryanodine receptor 2 (cardiac)
  • SALL1: spalt-like transcription factor 1
  • SBDS: Shwachman-Bodian-Diamond syndrome
  • SCN1A: sodium channel, voltage-gated, type I, alpha subunit
  • SEPT9: septin 9
  • SHANK3: SH3 and multiple ankyrin repeat domains 3
  • SIX1: SIX homeobox 1
  • SKI: SKI proto-oncogene
  • SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
  • SLC4A1: solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
  • 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
  • SNAI2: snail family zinc finger 2
  • SNCA: synuclein, alpha (non A4 component of amyloid precursor)
  • SP110: SP110 nuclear body protein
  • SPAST: spastin
  • SPG11: spastic paraplegia 11 (autosomal recessive)
  • SQSTM1: sequestosome 1
  • STRC: stereocilin
  • SYNE1: spectrin repeat containing, nuclear envelope 1
  • T: T, brachyury homolog (mouse)
  • TBP: TATA box binding protein
  • 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)
  • TGM1: transglutaminase 1
  • TINF2: TERF1 (TRF1)-interacting nuclear factor 2
  • TNNI3: troponin I type 3 (cardiac)
  • TNNT2: troponin T type 2 (cardiac)
  • TP53: tumor protein p53
  • TP63: tumor protein p63
  • TPM2: tropomyosin 2 (beta)
  • TPM3: tropomyosin 3
  • TREX1: three prime repair exonuclease 1
  • TRIOBP: TRIO and F-actin binding protein
  • TRPV4: transient receptor potential cation channel, subfamily V, member 4
  • TSC1: tuberous sclerosis 1
  • TSEN2: tRNA splicing endonuclease 2 homolog (S. cerevisiae)
  • TTC37: tetratricopeptide repeat domain 37
  • TTN: titin
  • TUBA1A: tubulin, alpha 1a
  • UBA1: ubiquitin-like modifier activating enzyme 1
  • UMOD: uromodulin
  • USH1C: Usher syndrome 1C (autosomal recessive, severe)
  • USH1G: Usher syndrome 1G (autosomal recessive)
  • USH2A: Usher syndrome 2A (autosomal recessive, mild)
  • UVSSA: UV-stimulated scaffold protein A
  • VCP: valosin containing protein
  • VHL: von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
  • VRK1: vaccinia related kinase 1
  • WAS: Wiskott-Aldrich syndrome
  • WDR35: WD repeat domain 35
  • WHSC1: Wolf-Hirschhorn syndrome candidate 1
  • WRN: Werner syndrome, RecQ helicase-like
  • XPA: xeroderma pigmentosum, complementation group A
  • XPC: xeroderma pigmentosum, complementation group C
  • ZFYVE26: zinc finger, FYVE domain containing 26

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

 
Published: September 15, 2014