BRCA2

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]

Description

breast cancer 2, early onset

Protein family

-

Chromosome

13:q13.1 (32889611 - 32973805)

Ensembl ID

ENSG00000139618  (ver. 69.37)

Orthologs

Mouse Brca2: ENSMUSG00000041147

Human splice variants
Mouse splice variants