BRCA2 Gene - Breast Cancer 2, DNA Repair Associated
Key tumor suppressor gene involved in homologous recombination repair and genomic stability
Gene Information Card
| Symbol | BRCA2 |
|---|---|
| Full Name | BRCA2 DNA repair associated |
| Gene Type | Protein coding |
| Chromosomal Location | 13q13.1 |
| NCBI Gene ID | 675 ncbi.nlm.nih.gov/gene/675 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | P51587 |
| OMIM ID | 600185 |
| HGNC ID | 1101 |
| Aliases | FANCD1, FACD, FAD, FAD1, BRCC2, BROVCA2, PNCA2 |
Description
BRCA2 (BRCA2 DNA repair associated) is a tumor suppressor gene located on chromosome 13q13.1. It encodes a protein essential for homologous recombination repair of DNA double-strand breaks. BRCA2 interacts with RAD51 to facilitate DNA repair, maintaining genomic stability. Germline loss-of-function mutations in BRCA2 predispose to hereditary breast and ovarian cancer, as well as other malignancies. Biallelic mutations cause Fanconi anemia complementation group D1. The gene spans approximately 84 kb and contains 27 exons.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Breast and Ovarian Cancer Syndrome | Loss-of-function mutations impair homologous recombination repair, leading to genomic instability and tumorigenesis | ClinVar, OMIM |
| Fanconi Anemia Complementation Group D1 | Biallelic mutations disrupt DNA interstrand crosslink repair, causing bone marrow failure and cancer predisposition | OMIM, NCBI |
| Pancreatic Cancer | BRCA2 mutations increase risk of pancreatic adenocarcinoma, particularly in familial cases | ClinVar, COSMIC |
| Prostate Cancer | Germline BRCA2 mutations confer elevated risk of aggressive prostate cancer | ClinVar, OMIM |
| Melanoma | BRCA2 mutations are associated with increased melanoma susceptibility | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Medium |
| Lymph Node | 7.1 | Medium |
| Breast | 5.2 | Low |
| Ovary | 4.8 | Low |
| Pancreas | 4.5 | Low |
| Prostate | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast cancer) | 6.0 | Moderate expression |
| HeLa (Cervical cancer) | 5.5 | Moderate expression |
| A549 (Lung cancer) | 4.8 | Low expression |
| K562 (Leukemia) | 7.2 | Medium expression |
| HepG2 (Liver cancer) | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.6174delT | Frameshift deletion | ~1% in Ashkenazi Jewish population | Loss of function, truncation |
| c.886delAG | Frameshift deletion | Founder mutation in Ashkenazi Jews | Loss of function, truncation |
| c.5946delT | Frameshift deletion | Recurrent in European populations | Loss of function, truncation |
| c.2808_2809delAA | Frameshift deletion | Rare | Loss of function, truncation |
| c.9097C>T (p.Gln3033Ter) | Nonsense | Rare | Loss of function, premature stop |
Mutation functional classification
Loss of Function (LOF)
Most BRCA2 mutations are loss-of-function, leading to truncated or unstable protein, impaired homologous recombination, and genomic instability. These are typically frameshift, nonsense, or splice-site variants.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for BRCA2.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with wild-type BRCA2 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000724 - double-strand break repair via homologous recombination | • GO:0003684 - damaged DNA binding |
| • GO:0005515 - protein binding | • GO:0005634 - nucleus |
| • GO:0006281 - DNA repair | • GO:0006302 - double-strand break repair |
| • GO:0010528 - regulation of transcription by RNA polymerase II | • GO:0043001 - Golgi apparatus |
Pathways
• Homologous recombination repair (Reactome: R-HSA-5693568)
• Fanconi anemia pathway (KEGG: hsa03460)
• DNA double-strand break repair (KEGG: hsa03440)
• BRCA1-BRCA2 pathway in genome stability (Reactome: R-HSA-5693571)
Protein Summary
The BRCA2 protein (3418 amino acids, ~384 kDa) is a nuclear protein essential for homologous recombination repair. It contains eight BRC repeats that bind RAD51, a C-terminal domain that interacts with DSS1 and RAD51, and an N-terminal transactivation domain. BRCA2 facilitates RAD51 loading onto single-stranded DNA at sites of double-strand breaks, promoting strand exchange and error-free repair. It also participates in DNA interstrand crosslink repair via the Fanconi anemia pathway. Loss of BRCA2 function leads to genomic instability, chromosomal aberrations, and cancer predisposition.
Related Services
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| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRCA2 (p.K1132=) Point Mutation in HAP1 Cell Line | EDC03417 | Human | 675 | Details Get a Quote |
| BRCA2 (p.V1269=) Point Mutation in HAP1 Cell Line | EDC03418 | Human | 675 | Details Get a Quote |
| BRCA2 (c.5066delC )Point Mutation in HAP1 Cell Line | EDC03419 | Human | 675 | Details Get a Quote |
| BRCA2 (c.5066C>A；c.5066C>T )Point Mutation in HAP1 Cell Line | EDC03420 | Human | 675 | Details Get a Quote |
| BRCA2 (c.7806-14T>C )Point Mutation in HAP1 Cell Line | EDC03421 | Human | 675 | Details Get a Quote |
| BRCA2 Knockout BT-549 Cell Line | EDC08349 | Human | 675 | Details Get a Quote |
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