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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, BROVCA2, FACD, FAD, FAD1, FANCB, FANCD, FANCD1, GLM3, PNCA2, 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 maintenance of genome stability, specifically the 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, Dec 2008]
- Rat (360254): tumor suppression gene; involved in repair of double-strand DNA breaks (DSBs) by homologous recombination [RGD, Feb 2006]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
brain development, cell aging, cell cycle, cell cycle cytokinesis, cell proliferation, centrosome duplication, chordate embryonic development, chromosome organization, 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, hemopoiesis, histone H3 acetylation, histone H4 acetylation, homologous chromosome orientation involved in meiotic metaphase I plate congression, 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 cell proliferation, regulation of cytokinesis, regulation of S phase of mitotic cell cycle, replication fork protection, response to DNA damage stimulus, response to estradiol stimulus, response to gamma radiation, response to nutrient, response to UV-C, response to X-ray, spermatogenesis
Cellular Components
BRCA2-MAGE-D1 complex, centrosome, cytoplasm, nucleolus, nucleoplasm, nucleus, protein complex, stored 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
- 17541404Thorslund T, Esashi F, West SC. Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1.EMBO J 2007 06 20;26(12):2915-22
- 11207365Marmorstein LY, Kinev AV, Chan GK, Bochar DA, Beniya H, Epstein JA, Yen TJ, Shiekhattar R. A human BRCA2 complex containing a structural DNA binding component influences cell cycle progression.Cell 2001 Jan 26;104(2):247-57
Molecular Functions
DNA binding, gamma-tubulin binding, H3 histone acetyltransferase activity, H4 histone acetyltransferase activity, histone acetyltransferase activity, protease binding, protein binding, single-stranded DNA binding
Protein Domains
activation domain, BRC repeat, BRCA2 repeat, BRCA2, helical, delta-like domain, DNA binding domain, gamma-tubulin binding, oligonucleotide/oligosaccharide-binding fold of replication protein A and class 2b aminoacyl-tRNA synthetases, protease binding, protein binding, single-stranded DNA binding, Tower, transcription activation domain, transcription regulator
Subcellular Locations
centrosome, chromosomes, Cytoplasm, detergent resistant lipid raft fraction, nuclear foci, nuclear fraction, nuclear scaffolds, nucleoplasm, Nucleus, secretory granules