FUNCTION: SwissProt: P51587 # Involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation.
SIZE: 3418 amino acids; 384225 Da
SUBUNIT: Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. Interacts with PALB2, enables the recombinational repair and checkpoints functions. Interacts with WDR16.
TISSUE SPECIFICITY: Highest levels of expression in breast and thymus, with slightly lower levels in lung, ovary and spleen.
PTM: Phosphorylated by ATM upon irradiation-induced DNA damage.
DISEASE: SwissProt: P51587 # Defects in BRCA2 are a cause of genetic susceptibility to breast cancer (BC) [MIM:600185, 114480]. BC is an extremely common malignancy, affecting one in eight women during their lifetime. A positive family history has been identified as major contributor to risk of development of the disease, and this link is striking for early-onset breast cancer. Mutations in BRCA2 are thought to be responsible for some inherited breast cancer. It is linked with male breast cancer. & Defects in BRCA2 are the cause of Fanconi anemia complementation group D type 1 (FANCD1) [MIM:605724]. Fanconi anemia [MIM:227650] is an autosomal recessive disorder affecting all bone marrow elements and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes.
SIMILARITY: SwissProt: P51587 ## Contains 8 BRCA2 repeats.