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Gene : FANCD2 Homo sapiens

Name  ? FA complementation group D2 Cytological Location  3p25.3
Brief Description  FA complementation group D2
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 multiple transcript variants. [provided by RefSeq, Feb 2016]
  • synonyms:
  • FAD2,
  • FA-D2,
  • FANCD2,
  • FANCD,
  • AF340183,
  • HGNC:3585,
  • OTTHUMG00000128670,
  • FAD,
  • FANCD,
  • NM_001018115,
  • FACD,
  • FACD,
  • uc003buw.4,
  • FA4,
  • FA-D2,
  • FAD,
  • Fanconi anemia complementation group D2
  • identifiers:
  • 2177,
  • ENSG00000144554,
  • FANCD2

Genome feature

Region: gene ? Length: 75496  
Location: 3:10026437-10101932 Cyto location: 3p25.3


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1 Diseases

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960 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results