BRCA2: involved in double-strand break repair and/or homologous recombination. May participate in S phase checkpoint activation. Interacts with RAD51 and DSS1. Interacts with ubiquitinated FANCD2. Interacts with PALB2, enables the recombinational repair and checkpoint functions. Interacts with WDR16. Defects in BRCA2 are a cause of genetic susceptibility to breast cancer and may underlie susceptibility to uveal melanoma.
Protein type: Tumor suppressor; DNA repair, damage; Nuclear receptor co-regulator
Chromosomal Location of Human Ortholog: 13q12.3
Cellular Component: nucleoplasm; centrosome; protein complex; cytoplasm; BRCA2-MAGE-D1 complex; nucleus; secretory granule
Molecular Function: H4 histone acetyltransferase activity; gamma-tubulin binding; protein binding; histone acetyltransferase activity; protease binding; H3 histone acetyltransferase activity; single-stranded DNA binding
Biological Process: positive regulation of transcription, DNA-dependent; cell aging; cytokinesis; DNA repair; positive regulation of mitotic cell cycle; oocyte maturation; regulation of cytokinesis; inner cell mass cell proliferation; double-strand break repair via homologous recombination; response to UV-C; negative regulation of mammary gland epithelial cell proliferation; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; male meiosis I; nucleotide-excision repair; double-strand break repair; response to gamma radiation; hemopoiesis; replication fork protection; spermatogenesis; brain development; centrosome duplication; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; female gonad development; response to X-ray
Disease: Pancreatic Cancer, Susceptibility To, 2; Breast-ovarian Cancer, Familial, Susceptibility To, 2; Breast Cancer; Medulloblastoma; Prostate Cancer; Glioma Susceptibility 3; Tracheoesophageal Fistula With Or Without Esophageal Atresia; Fanconi Anemia, Complementation Group D1; Wilms Tumor 1
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