Fanconi anemia, complementation group D2

Symbol

FANCD2 (may also be known as: None)

Organism

Human

Description

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 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, Jul 2008]

Orthologs

SymbolSpecies
fcd-2 Caenorhabditis elegans
Fancd2 Drosophila melanogaster
fancd2 Danio rerio
Fancd2 Mus musculus
Fancd2 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0006281 DNA repair biological_process
GO:0007049 cell cycle biological_process
GO:0007129 synapsis biological_process
GO:0007276 gamete generation biological_process
GO:0010332 response to gamma radiation biological_process
GO:0000793 condensed chromosome cellular_component
GO:0005634 nucleus cellular_component
GO:0005654 nucleoplasm cellular_component
GO:0005515 protein binding molecular_function