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Gene information for FANCD2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID2177
Official gene symbolFANCD2
Full nameFanconi anemia, complementation group D2
Aliases,DKFZp762A223,FA-D2,FA4,FACD,FAD,FAD2,FANCD,FLJ23826,
Gene summaryThe 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 D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq]
LocationChromosome: 3   Locus: 3p26
Gene position10068113 - 10143614  Map Viewer
Gene orientationplus
Gene size75502 bp
Gene sequence
OMIM ID227646