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; Nuclear receptor co-regulator; DNA repair, damage
Chromosomal Location of Human Ortholog: 13q12.3
Cellular Component: BRCA2-MAGE-D1 complex; centrosome; cytoplasm; nuclear chromosome, telomeric region; nucleoplasm; nucleus; protein complex; secretory granule
Molecular Function: gamma-tubulin binding; H3 histone acetyltransferase activity; H4 histone acetyltransferase activity; histone acetyltransferase activity; protease binding; protein binding; single-stranded DNA binding
Biological Process: brain development; cell aging; centrosome duplication; chromosome breakage; cytokinesis; DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; DNA synthesis during DNA repair; double-strand break repair; double-strand break repair via homologous recombination; female gonad development; hemopoiesis; homologous chromosome orientation during meiosis; inner cell mass cell proliferation; male meiosis I; mammary gland development; multicellular organism growth; negative regulation of mammary gland epithelial cell proliferation; nucleotide-excision repair; oocyte maturation; positive regulation of mitotic cell cycle; positive regulation of transcription, DNA-dependent; regulation of cytokinesis; replication fork protection; response to estradiol stimulus; response to gamma radiation; response to nutrient; response to UV-C; response to X-ray; spermatogenesis; strand displacement; telomere maintenance via recombination
Disease: Breast Cancer; Breast-ovarian Cancer, Familial, Susceptibility To, 2; Fanconi Anemia, Complementation Group D1; Glioma Susceptibility 3; Medulloblastoma; Pancreatic Cancer, Susceptibility To, 2; Prostate Cancer; Tracheoesophageal Fistula With Or Without Esophageal Atresia; Wilms Tumor 1
Show more