Regulation of localization
- AAAS: achalasia, adrenocortical insufficiency, alacrimia
- ABCA1: ATP-binding cassette, sub-family A (ABC1), member 1
- ABCC8: ATP-binding cassette, sub-family C (CFTR/MRP), member 8
- ABCG5: ATP-binding cassette, sub-family G (WHITE), member 5
- ABCG8: ATP-binding cassette, sub-family G (WHITE), member 8
- ABHD5: abhydrolase domain containing 5
- ACVRL1: activin A receptor type II-like 1
- AKT1: v-akt murine thymoma viral oncogene homolog 1
- ANG: angiogenin, ribonuclease, RNase A family, 5
- ANK2: ankyrin 2, neuronal
- APC: adenomatous polyposis coli
- APOA1: apolipoprotein A-I
- APOB: apolipoprotein B (including Ag(x) antigen)
- APOE: apolipoprotein E
- AR: androgen receptor
- ATXN2: ataxin 2
- BARD1: BRCA1 associated RING domain 1
- BMPR1A: bone morphogenetic protein receptor, type IA
- BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
- BRCA1: breast cancer 1, early onset
- C3: complement component 3
- CACNA1A: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
- CACNA1C: calcium channel, voltage-dependent, L type, alpha 1C subunit
- CAPN3: calpain 3, (p94)
- CASQ2: calsequestrin 2 (cardiac muscle)
- CAV3: caveolin 3
- CDH1: cadherin 1, type 1, E-cadherin (epithelial)
- CHD7: chromodomain helicase DNA binding protein 7
- CHRNA4: cholinergic receptor, nicotinic, alpha 4 (neuronal)
- CHRNB2: cholinergic receptor, nicotinic, beta 2 (neuronal)
- COL1A1: collagen, type I, alpha 1
- CSF1R: colony stimulating factor 1 receptor
- CTNNB1: catenin (cadherin-associated protein), beta 1, 88kDa
- CYLD: cylindromatosis (turban tumor syndrome)
- DMD: dystrophin
- DRD3: dopamine receptor D3
- EDN3: endothelin 3
- EMD: emerin
- ENG: endoglin
- F2: coagulation factor II (thrombin)
- FGF23: fibroblast growth factor 23
- FLCN: folliculin
- FLNA: filamin A, alpha
- FLT4: fms-related tyrosine kinase 4
- FOXC2: forkhead box C2 (MFH-1, mesenchyme forkhead 1)
- FOXP3: forkhead box P3
- GHRHR: growth hormone releasing hormone receptor
- GJA1: gap junction protein, alpha 1, 43kDa
- GLRA1: glycine receptor, alpha 1
- GNAS: GNAS complex locus
- HRAS: v-Ha-ras Harvey rat sarcoma viral oncogene homolog
- HSPB1: heat shock 27kDa protein 1
- HTT: huntingtin
- IKBKAP: inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
- IL1A: interleukin 1, alpha
- INS: insulin
- JAG1: jagged 1
- JPH3: junctophilin 3
- KCNE1: potassium voltage-gated channel, Isk-related family, member 1
- KCNJ11: potassium inwardly-rectifying channel, subfamily J, member 11
- KCNQ1: potassium voltage-gated channel, KQT-like subfamily, member 1
- KRIT1: KRIT1, ankyrin repeat containing
- LDLRAP1: low density lipoprotein receptor adaptor protein 1
- LMNA: lamin A/C
- LPL: lipoprotein lipase
- LRP5: low density lipoprotein receptor-related protein 5
- MAP2K1: mitogen-activated protein kinase kinase 1
- MAP2K2: mitogen-activated protein kinase kinase 2
- MKKS: McKusick-Kaufman syndrome
- MLC1: megalencephalic leukoencephalopathy with subcortical cysts 1
- MTMR2: myotubularin related protein 2
- MYBPC3: myosin binding protein C, cardiac
- MYO6: myosin VI
- NF1: neurofibromin 1
- NF2: neurofibromin 2 (merlin)
- 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
- PAX8: paired box 8
- PCSK9: proprotein convertase subtilisin/kexin type 9
- PDGFB: platelet-derived growth factor beta polypeptide
- PDGFRA: platelet-derived growth factor receptor, alpha polypeptide
- PDGFRB: platelet-derived growth factor receptor, beta polypeptide
- PKD1: polycystic kidney disease 1 (autosomal dominant)
- PKD2: polycystic kidney disease 2 (autosomal dominant)
- PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive)
- PKP2: plakophilin 2
- PML: promyelocytic leukemia
- PNPLA2: patatin-like phospholipase domain containing 2
- PPT1: palmitoyl-protein thioesterase 1
- PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
- PRKAR1A: protein kinase, cAMP-dependent, regulatory, type I, alpha
- PTCH1: patched 1
- PTEN: phosphatase and tensin homolog
- PTPN11: protein tyrosine phosphatase, non-receptor type 11
- RAB23: RAB23, member RAS oncogene family
- RAF1: v-raf-1 murine leukemia viral oncogene homolog 1
- RB1: retinoblastoma 1
- RET: ret proto-oncogene
- ROR2: receptor tyrosine kinase-like orphan receptor 2
- RPS19: ribosomal protein S19
- RYR1: ryanodine receptor 1 (skeletal)
- RYR2: ryanodine receptor 2 (cardiac)
- SAA1: serum amyloid A1
- SCN10A: sodium channel, voltage-gated, type X, alpha subunit
- SCN5A: sodium channel, voltage-gated, type V, alpha subunit
- SHANK3: SH3 and multiple ankyrin repeat domains 3
- SHH: sonic hedgehog
- SLC25A4: solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
- SLC26A4: solute carrier family 26, member 4
- SLC2A1: solute carrier family 2 (facilitated glucose transporter), member 1
- SMAD3: SMAD family member 3
- SMAD4: SMAD family member 4
- SNAI2: snail homolog 2 (Drosophila)
- SNCA: synuclein, alpha (non A4 component of amyloid precursor)
- SNCAIP: synuclein, alpha interacting protein
- SOX9: SRY (sex determining region Y)-box 9
- TBX5: T-box 5
- TEK: TEK tyrosine kinase, endothelial
- TFAP2B: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
- TGFB1: transforming growth factor, beta 1
- TGFBR1: transforming growth factor, beta receptor 1
- TNFRSF11A: tumor necrosis factor receptor superfamily, member 11a, NFKB activator
- TSC2: tuberous sclerosis 2
- TWIST1: twist basic helix-loop-helix transcription factor 1
- UNC13D: unc-13 homolog D (C. elegans)
- WFS1: Wolfram syndrome 1 (wolframin)
- YWHAE: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
Source: Gene Ontology Consortium
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