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

rs76041173 in FANCD2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs121917787 in FANCD2 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP D2 PMID 11239453 2001 Positional cloning of a novel Fanconi anemia gene, FANCD2.

rs121917787 in FANCD2 gene and Fanconi Anemia PMID 17308347 2007 Insights into Fanconi Anaemia from the structure of human FANCE.

PMID 11239453 2001 Positional cloning of a novel Fanconi anemia gene, FANCD2.

PMID 17436244 2007 Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.

PMID 23613520 2013 Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

rs35782247 in FANCD2 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs35782247 in FANCD2 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.