BRCA2

BRCA2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1N0W, 3EU7
Identifiers
Aliases	BRCA2, BRCC2, BROVCA2, FACD, FAD, FAD1, FANCD, FANCD1, GLM3, PNCA2, XRCC11, breast cancer 2, DNA repair associated, breast cancer 2, early onset, BRCA2 DNA repair associated, Genes
External IDs	OMIM: 600185; MGI: 109337; HomoloGene: 41; GeneCards: BRCA2; OMA:BRCA2 - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q13.1 Start 32,315,086 bp[1] End 32,400,268 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5 G3|5 89.52 cM Start 150,446,095 bp[2] End 150,493,794 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle secondary oocyte ventricular zone gonad ganglionic eminence granulocyte bone marrow cells trabecular bone stromal cell of endometrium Achilles tendon Top expressed in primary oocyte secondary oocyte zygote tail of embryo epiblast seminiferous tubule maxillary prominence genital tubercle ankle joint mandibular prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding H4 histone acetyltransferase activity H3 histone acetyltransferase activity protease binding histone acetyltransferase activity protein binding gamma-tubulin binding single-stranded DNA binding protein C-terminus binding identical protein binding Cellular component centrosome BRCA2-MAGE-D1 complex secretory granule nucleoplasm microtubule organizing center nucleus cytoskeleton lateral element cytoplasm cytosol protein-containing complex Biological process chordate embryonic development nucleotide-excision repair intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator DNA recombination regulation of cytokinesis replication fork protection centrosome duplication male meiosis I negative regulation of mammary gland epithelial cell proliferation positive regulation of mitotic cell cycle chromosome organization female gonad development inner cell mass cell proliferation positive regulation of transcription, DNA-templated telomere maintenance via recombination brain development oocyte maturation histone H3 acetylation spermatogenesis intrinsic apoptotic signaling pathway in response to DNA damage establishment of protein localization to telomere histone H4 acetylation cellular response to DNA damage stimulus cell cycle cell population proliferation response to gamma radiation response to UV-C response to X-ray DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator mitotic recombination-dependent replication fork processing double-strand break repair via homologous recombination DNA repair double-strand break repair mitotic cytokinesis hemopoiesis response to nutrient meiotic DNA repair synthesis involved in reciprocal meiotic recombination mammary gland development homologous chromosome orientation involved in meiotic metaphase I plate congression response to estradiol multicellular organism growth DNA synthesis involved in double-strand break repair via homologous recombination meiotic recombination checkpoint signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 675 12190 Ensembl ENSG00000139618 ENSMUSG00000041147 UniProt P51587 P97929 RefSeq (mRNA) NM_000059 NM_001081001 NM_009765 RefSeq (protein) NP_000050 NP_001074470 NP_033895 Location (UCSC) Chr 13: 32.32 – 32.4 Mb Chr 5: 150.45 – 150.49 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

BRCA2 and BRCA2 (/ˌbrækəˈtuː/^[5]) are human genes and their protein products, respectively. The official symbol (BRCA2, italic for the gene, nonitalic for the protein) and the official name (originally breast cancer 2; currently BRCA2, DNA repair associated) are maintained by the HUGO Gene Nomenclature Committee. One alternative symbol, FANCD1, recognizes its association with the FANC protein complex. Orthologs, styled Brca2 and Brca2, are common in other vertebrate species.^[6][7] BRCA2 is a human tumor suppressor gene^[8][9] (specifically, a caretaker gene), found in all humans; its protein, also called by the synonym breast cancer type 2 susceptibility protein, is responsible for repairing DNA.^[10]

BRCA2 and BRCA1 are normally expressed in the cells of breast and other tissue, where they help repair damaged DNA or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double strand breaks.^[11][12] If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer.^[13][14] BRCA1 and BRCA2 have been described as "breast cancer susceptibility genes" and "breast cancer susceptibility proteins". The predominant allele has a normal tumor suppressive function whereas high penetrance mutations in these genes cause a loss of tumor suppressive function, which correlates with an increased risk of breast cancer.^[15]

The BRCA2 gene is located on the long (q) arm of chromosome 13 at position 12.3 (13q12.3).^[16] The human reference BRCA2 gene contains 27 exons, and the cDNA has 10,254 base pairs^[17] coding for a protein of 3418 amino acids.^[18][19]