Version: 8.0.0Date: Tue Jan 28 2025
Gene
BRCA2
- Species
- Homo sapiens
- Symbol
- BRCA2
- Name
- BRCA2 DNA repair associated
- Synonyms
- BRCA1/BRCA2-containing complex, subunit 2
- BRCA2, DNA repair associated
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including gamma-tubulin binding activity; histone acetyltransferase activity; and identical protein binding activity. Involved in several processes, including DNA metabolic process; establishment of protein localization to telomere; and negative regulation of mammary gland epithelial cell proliferation. Located in several cellular components, including centrosome; chromosome, telomeric region; and nuclear lumen. Part of BRCA2-MAGE-D1 complex; DNA repair complex; and nuclear ubiquitin ligase complex. Implicated in several diseases, including Fanconi anemia (multiple); esophagus squamous cell carcinoma; hereditary breast ovarian cancer syndrome; melanoma (multiple); and reproductive organ cancer (multiple). Biomarker of colorectal cancer and colorectal carcinoma.
- RGD Description
- 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 largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. 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, May 2020]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11289
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| No records match query. Try removing filters. | ||
Showing 0 - 0 of 0 rows
per page
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||
Showing 0 - 0 of 0 rows
per page
Sequence Feature Viewer
- Genome location
- Chr13:32315077...32400268 + (85.19 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.