Regulation of molecular function

Regulation of molecular function

• ALS2: amyotrophic lateral sclerosis 2 (juvenile)
• ANG: angiogenin, ribonuclease, RNase A family, 5
• APC: adenomatous polyposis coli
• APOE: apolipoprotein E
• ATP7A: ATPase, Cu++ transporting, alpha polypeptide
• BLM: Bloom syndrome, RecQ helicase-like
• CACNB4: calcium channel, voltage-dependent, beta 4 subunit
• CDKN1C: cyclin-dependent kinase inhibitor 1C (p57, Kip2)
• CLN3: ceroid-lipofuscinosis, neuronal 3
• COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
• CSTB: cystatin B (stefin B)
• DIRAS3: DIRAS family, GTP-binding RAS-like 3
• DRD3: dopamine receptor D3
• EDA: ectodysplasin A
• EDN3: endothelin 3
• EDNRB: endothelin receptor type B
• EP300: E1A binding protein p300
• ERBB2: v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
• F2: coagulation factor II (thrombin)
• FGD1: FYVE, RhoGEF and PH domain containing 1
• FLNA: filamin A, alpha
• FOXL2: forkhead box L2
• FOXP3: forkhead box P3
• FXN: frataxin
• GCH1: GTP cyclohydrolase 1
• GLA: galactosidase, alpha
• GNAS: GNAS complex locus
• JPH3: junctophilin 3
• LDLRAP1: low density lipoprotein receptor adaptor protein 1
• MEN1: multiple endocrine neoplasia I
• MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
• MSH6: mutS homolog 6 (E. coli)
• NF1: neurofibromin 1
• NLRP12: NLR family, pyrin domain containing 12
• NLRP3: NLR family, pyrin domain containing 3
• NOD2: nucleotide-binding oligomerization domain containing 2
• PRKAG2: protein kinase, AMP-activated, gamma 2 non-catalytic subunit
• PROK2: prokineticin 2
• PSEN1: presenilin 1
• PSEN2: presenilin 2 (Alzheimer disease 4)
• PTEN: phosphatase and tensin homolog
• RB1: retinoblastoma 1
• SNCA: synuclein, alpha (non A4 component of amyloid precursor)
• SOD1: superoxide dismutase 1, soluble
• TGFB1: transforming growth factor, beta 1
• TGFBR2: transforming growth factor, beta receptor II (70/80kDa)
• TP53: tumor protein p53
• TSC1: tuberous sclerosis 1
• TSC2: tuberous sclerosis 2
• TTN: titin
• VCP: valosin-containing protein
• WRN: Werner syndrome, RecQ helicase-like

Source: Gene Ontology Consortium (June 2009).