BRCA2 - breast cancer 2, early onset
Entrez Gene Name: breast cancer 2, early onset
Entrez GeneID: Human(675)
, Mouse(12190), Rat(360254)
, Mouse(12190), Rat(360254) Synonyms: AI256696, AW045498, BRCA2, BRCC2, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, RAB163
Gene Summary
- Human (675): Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintainance of genome stability, specificallythe homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq]
- Rat (360254): tumor suppression gene; involved in repair of double-strand DNA breaks (DSBs) by homologous recombination [RGD]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
brain development, cell aging, cell proliferation, centrosome duplication, chordate embryonic development, chromosome organization and biogenesis, cytokinesis during cell cycle, 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 damage response, signal transduction resulting in induction of apoptosis, DNA recombination, DNA repair, double-strand break repair, double-strand break repair via homologous recombination, female gonad development, 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, regulation of S phase of mitotic cell cycle, regulation of transcription, DNA-dependent, replication fork protection, response to DNA damage stimulus, response to estrogen stimulus, response to gamma radiation, response to genistein, response to nutrient, response to UV-C, response to X-ray, spermatogenesis
Cellular Components
BRCA2-MAGE-D1 complex, centrosome, cytoplasm, nucleoplasm, nucleus, secretory granule
Literature References
- 15800615Esashi F, Christ N, Gannon J, Liu Y, Hunt T, Jasin M, West SC. CDK-dependent phosphorylation of BRCA2 as a regulatory mechanism for recombinational repair.Nature 2005 Mar 31;434(7033):598-604
- 16731627Saeki H, Siaud N, Christ N, Wiegant WW, van Buul PP, Han M, Zdzienicka MZ, Stark JM, Jasin M. Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions.Proc Natl Acad Sci U S A 2006 Jun 06;103(23):8768-73
- 16513631Filippo JS, Chi P, Sehorn MG, Etchin J, Krejci L, Sung P. Recombination Mediator and Rad51 Targeting Activities of a Human BRCA2 Polypeptide.J Biol Chem 2006 Apr 28;281(17):11649-57 View 833 categorized literature findings and their references in IPA
Molecular Functions
gamma-tubulin binding, histone acetyltransferase activity, protein binding, single-stranded DNA binding, transcription activator activity
Protein Domains
activation domain, BRC repeat, BRCA2 repeat, carboxy terminal domain, DNA binding domain, Histone acetyltransferase, protein binding, single-stranded DNA binding, transcription activation domain, transcription regulator, transcriptional activator
Subcellular Locations
chromosomes, cytoplasm, detergent resistant lipid raft fraction, nuclear foci, nuclear fraction, nuclear scaffolds, nucleus
