FANCA


Summary: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
FA complementation group AMIM:607139Ensembl:ENSG00000187741HGNC:HGNC:3582PA2799516q24.3

GO terms in FANCA


Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0005515protein binding
CCIDAGO:0005634nucleus
CCTASGO:0005654nucleoplasm
CCIEAGO:0005737cytoplasm
CCIDAGO:0043240Fanconi anaemia nuclear complex
BPTASGO:0006281DNA repair
BPIEAGO:0007140male meiotic nuclear division
BPIEAGO:0008584male gonad development
BPIEAGO:0008585female gonad development
BPTASGO:0036297interstrand cross-link repair
BPIEAGO:0042127regulation of cell proliferation
BPIEAGO:0045589regulation of regulatory T cell differentiation
BPIEAGO:0050727regulation of inflammatory response
BPIEAGO:0051090regulation of DNA-binding transcription factor activity
BPTASGO:0065003protein-containing complex assembly
BPIEAGO:2000348regulation of CD40 signaling pathway

Gene expression in normal tissue: FANCA

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in FANCA


DatabasePathway IDPathway Des.
reactomeR-HSA-6783310Fanconi Anemia Pathway
reactomeR-HSA-73894DNA Repair
biocartaatrbrcapathwayrole of brca1 brca2 and atr in cancer susceptibility
biocartabard1pathwaybrca1 dependent ub ligase activity
kegghsa03460Fanconi anemia pathway - Homo sapiens (human)
pidbard1pathwayBARD1 signaling events
pidfanconi_pathwayFanconi anemia pathway

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD77Itraconazole3
iGMDRD6AM-5802
iGMDRD434BMS-5369242
iGMDRD103SN-382
iGMDRD137Indisulam5
iGMDRD121GMX17782
iGMDRD300Tozasertib3
iGMDRD532Olaparib2
iGMDRD560MK-22063
iGMDRD424Tamatinib1
iGMDRD154NSC237662
iGMDRD901ELCPK3
iGMDRD123Isoevodiamine2
iGMDRD294Batimastat4
iGMDRD171Pemetrexed2
iGMDRD255SB2250021
iGMDRD8024-methylfasudil2
iGMDRD356PNU-746541
iGMDRD524ISX-92
iGMDRD369TGX-1152
iGMDRD64Parbendazole5
iGMDRD562Navitoclax1
iGMDRD100Zebularine3
iGMDRD887Compound 23 citrate3
iGMDRD399Selumetinib2
iGMDRD971PARP inhibitor1
iGMDRD579PF7503
iGMDRD394BX-7953
iGMDRD280CYTOCHALASIN B2
iGMDRD61Kinetin riboside3
iGMDRD193Fqi12
iGMDRD446LY 21832403
iGMDRD201SKI II2

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in FANCA

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