Gene: FANCD2

Alternate names for this Gene: FA-D2|FA4|FACD|FAD|FAD2|FANCD

Gene 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 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 multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: FA complementation group D2

Type of Gene: protein-coding

Gene: FANCD2OS

Alternate names for this Gene: C3orf24

Gene Summary: This gene encodes a conserved protein of unknown function.

Gene is located in Chromosome: 3

Location in Chromosome : 3p25.3

Description of this Gene: FANCD2 opposite strand

Type of Gene: protein-coding

rs121917786 in FANCD2;FANCD2OS gene and FANCONI ANEMIA, COMPLEMENTATION GROUP D2 PMID 11239453 2001 Positional cloning of a novel Fanconi anemia gene, FANCD2.