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BRCA2breast cancer 2, early onset |
Known also as: FAD; FACD; FAD1; GLM3; BRCC2; FANCB; FANCD; PNCA2; FANCD1; BROVCA2;
| NCBI Gene ID: | 675 |
| NCBI Ensembl Id: | ENSG00000139618 |
| MIM Id: (from NCBI OMIM database) | 600185 |
| Species: | Homo sapiens |
| 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] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
Diseases related to this gene:
References:
| Authors | Title | Journal |
| Siddique H, Zou JP, Rao VN, Reddy ES | The BRCA2 is a histone acetyltransferase. | Oncogene April 1, 1998 |
| Fuks F, Milner J, Kouzarides T | BRCA2 associates with acetyltransferase activity when bound to P/CAF. | Oncogene Nov. 12, 1998 |
| Schoenfeld AR, Apgar S, Dolios G, Wang R, Aaronson SA | BRCA2 is ubiquitinated in vivo and interacts with USP11, a deubiquitinating enzyme that exhibits prosurvival function in the cellular response to DNA damage. | Mol Cell Biol Sept. 1, 2004 |
| Nakanishi A, Han X, Saito H, Taguchi K, Ohta Y, Imajoh-Ohmi S, Miki Y | Interference with BRCA2, which localizes to the centrosome during S and early M phase, leads to abnormal nuclear division. | Biochem Biophys Res Commun March 1, 2007 |
| Davies OR, Pellegrini L | Interaction with the BRCA2 C terminus protects RAD51-DNA filaments from disassembly by BRC repeats. | Nat Struct Mol Biol June 1, 2007 |
Last modification of this entry: Oct. 6, 2010.
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