QuickView for FANCD;jsessionid=A86A87DC4F76C743C4E998E3889CDB28;jsessionid=D0464DBBDD7E3F5508E15FBF4C13FCEF;jsessionid=6619D08F3B091FCE0370EA26DA822192 (gene)

Gene Symbol:

FANCD2 Homo sapiens

Full name:

Fanconi anemia complementation group D2

Synonyms:

FA-D2, FA4, FACD, FAD, FAD2, FANCD, Fanconi anemia group D2 protein

Genomic Location:

Chr 3: 10043113-10118614

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 chara...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

ZIC1_01 ,  E2F4DP1_01 ,  ZIC3_01 ,  CREB_Q4 ,  TGACCTY_ERR1_Q2 ,  E2F_Q6 ,  E2F_Q4 ,  E2F1DP2_01 ,  E2F1DP1_01 ,  SCGGAAGY_ELK1_02 ,  E2F_02 ,  ZIC2_01 ,  E2F4DP2_01 ,  ELK1_02 ,  TGACCTTG_SF1_Q6 ,  E2F1_Q6

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Cytogenetic Map:

3p25.3

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