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Gene Symbol FANCD2
Synonyms FA-D2 | FA4 | FACD | FAD | FAD2 | FANCD
Gene Description FANCD2, FA complementation group D2, is activated by monoubiquitination by the Fanconi anemia core complex, and functions in DNA repair (PMID: 24905007, PMID: 27145721). Germline FANCD2 mutations are associated with Fanconi anemia, which involves predisposition to various cancers (PMID: 24025411, PMID: 12509764) and decreased expression has been observed in nasopharyngeal carcinoma (PMID: 31934192).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
2177 3 3p25.3 NM_001018115 Tumor suppressor (PMID: 30606230)
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