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FANCD2Fanconi anemia, complementation group D2 |
Known also as: FA4; FAD; FACD; FAD2; FA-D2; FANCD; FLJ23826; DKFZp762A223;
| NCBI Gene ID: | 2177 |
| NCBI Ensembl Id: | ENSG00000144554 |
| MIM Id: (from NCBI OMIM database) | 227646 |
| Species: | Homo sapiens |
| 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] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
- FANCONI ANEMIA (#227650 )
- FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (+227646 )
- FANCONI ANEMIA (#227650 )
- FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (+227646 )
| Authors | Title | Journal |
| Jin S, Mao H, Schnepp RW, Sykes SM, Silva AC, D'Andrea AD, Hua X | Menin associates with FANCD2, a protein involved in repair of DNA damage. | Cancer Res July 15, 2003 |
| Sims AE, Spiteri E, Sims RJ 3rd, Arita AG, Lach FP, Landers T, Wurm M, Freund M, Neveling K, Hanenberg H, Auerbach AD, Huang TT | FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. | Nat Struct Mol Biol June 1, 2007 |
| Cohn MA, Kowal P, Yang K, Haas W, Huang TT, Gygi SP, D'Andrea AD | A UAF1-containing multisubunit protein complex regulates the Fanconi anemia pathway. | Mol Cell Dec. 14, 2007 |
| MacKay C, Declais AC, Lundin C, Agostinho A, Deans AJ, MacArtney TJ, Hofmann K, Gartner A, West SC, Helleday T, Lilley DM, Rouse J | Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2. | Cell July 9, 2010 |
| Liu T, Ghosal G, Yuan J, Chen J, Huang J | FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair. | Science Aug. 6, 2010 |
Last modification of this entry: Oct. 6, 2010.
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