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Description

Fanconi anemia group D2 protein (UniProt: Q9BXW9, also known as Protein FACD2) is encoded by the FANCD2 (also known as FACD) gene (gene ID: 2177) in human. FACD2 is a nuclear protein that is required for maintenance of chromosomal stability. It is highly expressed in fetal oocytes, and in hematopoietic cells of the fetal liver and bone marrow. High expression is also observed in germinal center cells of the spleen, tonsil, and reactive lymph nodes and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, larynx and cervix. FACD2 promotes accurate and efficient pairing of homologs during meiosis. It is also involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing and may participate in S phase and G2 phase checkpoint activation upon DNA damage. It is concentrated in nuclear foci during S phase and upon genotoxic stress. FACD2 plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. It is phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing radiation, it is phosphorylated on serine 222 and serine 1404 by ATM. Phosphorylation on serine 222 is shown to be essential for S-phase checkpoint activation. Mutations in FANCD2 gene are known to cause Fanconi anemia complementation group D2, which results in anemia, leukopenia, and thrombopenia and may cause cardiac, renal, and limb malformations and increase predisposition to malignancies. (Ref.: Shen, Y., et al. (2015). Cancer Cell Microenviron. 2(4): e986).