| Gene Symbol | BRCA2 |
| Entrez Gene ID | 675 |
| Full Name | BRCA2, DNA repair associated |
| Synonyms | BRCC2,BROVCA2,FACD,FAD,FAD1,FANCD,FANCD1,GLM3,PNCA2,XRCC11 |
| General protein information |
|
| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | {Breast-ovarian cancer, familial, 2}, 612555 (3); Fanconi anemia, complementation group D1, 605724 (3); {Prostate cancer}, 176807 (3); {Breast cancer, male, susceptibility to}, 114480 (3); Wilms tumor, 194070 (3); {Medulloblastoma}, 155255 (3); {Glioblastoma 3}, 613029 (3); {Pancreatic cancer 2}, 613347 (3) |
User Manual
