Intracellular non-membrane-bounded organelle

Intracellular non-membrane-bounded organelle

• AAAS: achalasia, adrenocortical insufficiency, alacrimia
• ACADVL: acyl-CoA dehydrogenase, very long chain
• ACTA1: actin, alpha 1, skeletal muscle
• ACTB: actin, beta
• ACTG1: actin, gamma 1
• AIRE: autoimmune regulator
• 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
• 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: ataxia telangiectasia mutated
• ATP2A1: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
• ATRX: alpha thalassemia/mental retardation syndrome X-linked
• ATXN2: ataxin 2
• 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)
• CASQ2: calsequestrin 2 (cardiac muscle)
• CAV3: caveolin 3
• CBS: cystathionine-beta-synthase
• 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)
• CTDP1: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
• CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
• CYLD: cylindromatosis (turban tumor syndrome)
• DBT: dihydrolipoamide branched chain transacylase E2
• DCTN1: dynactin 1
• DCX: doublecortin
• DES: desmin
• DFNB31: deafness, autosomal recessive 31
• DKC1: dyskeratosis congenita 1, dyskerin
• DMD: dystrophin
• DNAI1: dynein, axonemal, intermediate chain 1
• DNM2: dynamin 2
• DYNC1H1: dynein, cytoplasmic 1, heavy chain 1
• EDA: ectodysplasin A
• ERCC2: excision repair cross-complementing rodent repair deficiency, complementation group 2
• ERCC6: excision repair cross-complementing rodent repair deficiency, complementation group 6
• ESCO2: establishment of sister chromatid cohesion N-acetyltransferase 2
• ESPN: espin
• EVC: Ellis van Creveld syndrome
• 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
• G6PD: glucose-6-phosphate dehydrogenase
• GAN: gigaxonin
• GATA1: GATA binding protein 1 (globin transcription factor 1)
• GLI3: GLI family zinc finger 3
• GM2A: GM2 ganglioside activator
• GNAI3: guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
• 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
• HLCS: holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
• HSPB1: heat shock 27kDa protein 1
• IFT140: intraflagellar transport 140 homolog (Chlamydomonas)
• 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
• KRIT1: KRIT1, ankyrin repeat containing
• KRT1: keratin 1
• KRT10: keratin 10
• KRT14: keratin 14
• KRT16: keratin 16
• KRT3: keratin 3
• KRT5: keratin 5
• KRT6A: keratin 6A
• KRT6C: keratin 6C
• KRT86: keratin 86
• 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
• MC1R: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
• MECP2: methyl CpG binding protein 2 (Rett syndrome)
• MEFV: Mediterranean fever
• MEN1: multiple endocrine neoplasia I
• MID1: midline 1 (Opitz/BBB syndrome)
• MKKS: McKusick-Kaufman syndrome
• MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
• MPLKIP: M-phase specific PLK1 interacting protein
• MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
• MSH6: mutS homolog 6 (E. coli)
• MTMR2: myotubularin related protein 2
• MTRR: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
• MYBPC1: myosin binding protein C, slow type
• MYBPC3: myosin binding protein C, cardiac
• MYCN: v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)
• 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
• NF2: neurofibromin 2 (merlin)
• NR0B1: nuclear receptor subfamily 0, group B, member 1
• OFD1: oral-facial-digital syndrome 1
• PAFAH1B1: platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
• PAX2: paired box 2
• PAX6: paired box 6
• PCDH15: protocadherin-related 15
• PCNT: pericentrin
• PHOX2A: paired-like homeobox 2a
• PHOX2B: paired-like homeobox 2b
• 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)
• PLEC: plectin
• PML: promyelocytic leukemia
• POLG: polymerase (DNA directed), gamma
• POLR1C: polymerase (RNA) I polypeptide C, 30kDa
• PPP1R12A: protein phosphatase 1, regulatory subunit 12A
• PRNP: prion protein
• PRPH: peripherin
• PSEN1: presenilin 1
• PSEN2: presenilin 2 (Alzheimer disease 4)
• RAD50: RAD50 homolog (S. cerevisiae)
• RAD51: RAD51 homolog (S. cerevisiae)
• RARA: retinoic acid receptor, alpha
• RB1: retinoblastoma 1
• 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: sal-like 1 (Drosophila)
• SBDS: Shwachman-Bodian-Diamond syndrome
• SCN1A: sodium channel, voltage-gated, type I, alpha subunit
• SDHAF2: succinate dehydrogenase complex assembly factor 2
• SEPT9: septin 9
• SHANK3: SH3 and multiple ankyrin repeat domains 3
• SIX1: SIX homeobox 1
• SMAD4: SMAD family 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
• SNAI2: snail homolog 2 (Drosophila)
• SNCA: synuclein, alpha (non A4 component of amyloid precursor)
• SNCAIP: synuclein, alpha interacting protein
• 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 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
• 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
• 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)
• TTN: titin
• UMOD: uromodulin
• UROD: uroporphyrinogen decarboxylase
• 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
• VRK1: vaccinia related kinase 1
• WHSC1: Wolf-Hirschhorn syndrome candidate 1
• WRN: Werner syndrome, RecQ helicase-like
• ZEB2: zinc finger E-box binding homeobox 2

Source: Gene Ontology Consortium.