FANCD2

Fanconi anemia, complementation group D2
Identifiers
Symbols	FANCD2 ; FACD; FAD; FANCD; DKFZp762A223; FA-D2; FA4; FAD2; FLJ23826
External IDs	Template:OMIM5 Template:MGI HomoloGene: 13212
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Fanconi anemia, complementation group D2, also known as FANCD2, is a human gene.

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. 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.

Further reading

• Whitney M, Thayer M, Reifsteck C; et al. (1995). "Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p". Nat. Genet. 11 (3): 341–3. doi:10.1038/ng1195-341. PMID 7581463.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hejna JA, Timmers CD, Reifsteck C; et al. (2000). "Localization of the Fanconi anemia complementation group D gene to a 200-kb region on chromosome 3p25.3". Am. J. Hum. Genet. 66 (5): 1540–51. PMID 10762542.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Timmers C, Taniguchi T, Hejna J; et al. (2001). "Positional cloning of a novel Fanconi anemia gene, FANCD2". Mol. Cell. 7 (2): 241–8. PMID 11239453.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Garcia-Higuera I, Taniguchi T, Ganesan S; et al. (2001). "Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway". Mol. Cell. 7 (2): 249–62. PMID 11239454.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Futaki M, Liu JM (2002). "Chromosomal breakage syndromes and the BRCA1 genome surveillance complex". Trends in molecular medicine. 7 (12): 560–5. PMID 11733219.
• Wilson JB, Johnson MA, Stuckert AP; et al. (2002). "The Chinese hamster FANCG/XRCC9 mutant NM3 fails to express the monoubiquitinated form of the FANCD2 protein, is hypersensitive to a range of DNA damaging agents and exhibits a normal level of spontaneous sister chromatid exchange". Carcinogenesis. 22 (12): 1939–46. PMID 11751423.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Grompe M (2002). "FANCD2: a branch-point in DNA damage response?". Nat. Med. 8 (6): 555–6. doi:10.1038/nm0602-555. PMID 12042798.
• Taniguchi T, Garcia-Higuera I, Xu B; et al. (2002). "Convergence of the fanconi anemia and ataxia telangiectasia signaling pathways". Cell. 109 (4): 459–72. PMID 12086603.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pace P, Johnson M, Tan WM; et al. (2002). "FANCE: the link between Fanconi anaemia complex assembly and activity". EMBO J. 21 (13): 3414–23. doi:10.1093/emboj/cdf355. PMID 12093742.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Taniguchi T, Garcia-Higuera I, Andreassen PR; et al. (2002). "S-phase-specific interaction of the Fanconi anemia protein, FANCD2, with BRCA1 and RAD51". Blood. 100 (7): 2414–20. doi:10.1182/blood-2002-01-0278. PMID 12239151.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tamary H, Bar-Yam R, Zemach M; et al. (2002). "The molecular biology of Fanconi anemia". Isr. Med. Assoc. J. 4 (10): 819–23. PMID 12389351.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nakanishi K, Taniguchi T, Ranganathan V; et al. (2003). "Interaction of FANCD2 and NBS1 in the DNA damage response". Nat. Cell Biol. 4 (12): 913–20. doi:10.1038/ncb879. PMID 12447395.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Goldberg M, Stucki M, Falck J; et al. (2003). "MDC1 is required for the intra-S-phase DNA damage checkpoint". Nature. 421 (6926): 952–6. doi:10.1038/nature01445. PMID 12607003.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stewart GS, Wang B, Bignell CR; et al. (2003). "MDC1 is a mediator of the mammalian DNA damage checkpoint". Nature. 421 (6926): 961–6. doi:10.1038/nature01446. PMID 12607005.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gordon SM, Buchwald M (2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems". Blood. 102 (1): 136–41. doi:10.1182/blood-2002-11-3517. PMID 12649160.
• Jin S, Mao H, Schnepp RW; et al. (2003). "Menin associates with FANCD2, a protein involved in repair of DNA damage". Cancer Res. 63 (14): 4204–10. PMID 12874027.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Vandenberg CJ, Gergely F, Ong CY; et al. (2003). "BRCA1-independent ubiquitination of FANCD2". Mol. Cell. 12 (1): 247–54. PMID 12887909.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Meetei AR, de Winter JP, Medhurst AL; et al. (2003). "A novel ubiquitin ligase is deficient in Fanconi anemia". Nat. Genet. 35 (2): 165–70. doi:10.1038/ng1241. PMID 12973351.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Reuter TY, Medhurst AL, Waisfisz Q; et al. (2003). "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport". Exp. Cell Res. 289 (2): 211–21. PMID 14499622.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)