BRCA2 - BRCA2 DNA repair associated Gene
Also Known as FAD; FACD; FAD1; GLM3; BRCC2; FANCD; PNCA2; FANCD1; XRCC11; BROVCA2
Species: Homo sapiens
About BRCA2
This gene has 15 transcripts (splice variants), 174 orthologues and is associated with 182 phenotypes. Broad expression in bone marrow (RPKM 2.9), testis (RPKM 2.2) and 17 other tissues.
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 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]
BRCA2 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_000059.4 | NP_000050.3 | breast cancer type 2 susceptibility protein isoform 1 |
| NM_001406719.1 | NP_001393648.1 | breast cancer type 2 susceptibility protein isoform 3 |
| NM_001406720.1 | NP_001393649.1 | breast cancer type 2 susceptibility protein isoform 2 |
| NM_001406721.1 | NP_001393650.1 | breast cancer type 2 susceptibility protein isoform 4 |
| NM_001406722.1 | NP_001393651.1 | breast cancer type 2 susceptibility protein isoform 5 |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables gamma-tubulin binding |
IPI
IPI: Inferred from physical interaction
|
17286961 | GOA |
| enables histone H3 acetyltransferase activity |
IDA
IDA: Inferred from direct assay
|
9619837 | GOA |
| enables histone H4 acetyltransferase activity |
IDA
IDA: Inferred from direct assay
|
9619837 | GOA |
| NOT enables histone acetyltransferase activity |
IDA
IDA: Inferred from direct assay
|
9824164 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
21601571 | GOA |
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
15314155 | GOA |
| enables protein binding |
IDA
IDA: Inferred from direct assay
|
9774970 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9560268 | GOA |
| enables single-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
20729832 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| part of BRCA2-MAGE-D1 complex |
IDA
IDA: Inferred from direct assay
|
15930293 | GOA |
| part of DNA repair complex |
IPI
IPI: Inferred from physical interaction
|
19369211 | GOA |
| located in centrosome |
IDA
IDA: Inferred from direct assay
|
17286961 | GOA |
| located in chromosome, telomeric region |
IDA
IDA: Inferred from direct assay
|
21076401 | GOA |
| located in lateral element |
IDA
IDA: Inferred from direct assay
|
9774970 | GOA |
| part of nuclear ubiquitin ligase complex |
IDA
IDA: Inferred from direct assay
|
14636569 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
9560268 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
9774970 | GOA |
| located in secretory granule |
IDA
IDA: Inferred from direct assay
|
8589722 | GOA |
BRCA2 Protein Structure
BRCA2: BRCA2 repeat (1002 - 1036)
BRCA2: BRCA2 repeat (1212 - 1246)
BRCA2: BRCA2 repeat (1421 - 1454)
BRCA2: BRCA2 repeat (1517 - 1550)
BRCA2: BRCA2 repeat (1664 - 1696)
BRCA2: BRCA2 repeat (1837 - 1869)
BRCA2: BRCA2 repeat (1972 - 2005)
BRCA2: BRCA2 repeat (2051 - 2084)
BRCA-2_helical: BRCA2, helical (2479 - 2667)
BRCA-2_OB1: BRCA2, oligonucleotide/oligosaccharide-binding, domain 1 (2670 - 2799)
Tower: Tower (2831 - 2872)
BRCA-2_OB3: BRCA2, oligonucleotide/oligosaccharide-binding, domain 3 (3052 - 3190)
- 0
- 600
- 1200
- 1800
- 2400
- 3000
- 3418 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
breast cancer type 2 susceptibility protein |
|
BRCA2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
BRCA2 | P51587 | PDS5B | Homo sapiens | Q9NTI5 | 22293751 | |
|
Intra
|
BRCA2 | P51587 | PDS5B | Homo sapiens | Q9NTI5 | 22293751 | |
|
Intra
|
BRCA2 | P51587 | PDS5B | Homo sapiens | Q9NTI5 | 22293751 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 19369211 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 22293751 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 19609323 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 24485656 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 24141787 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 22293751 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 30410870 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 30410870 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 19369211 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 19609323 | |
|
Intra
|
BRCA2 | P51587 | PALB2 | Homo sapiens | Q86YC2 | 19369211 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609-1 | 17515903 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609-1 | 17515903 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609-1 | 17515903 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609-1 | 17515903 | |
|
Intra
|
BRCA2 | P51587 | POLH | Homo sapiens | Q9Y253 | 24485656 | |
|
Intra
|
BRCA2 | P51587 | POLH | Homo sapiens | Q9Y253 | 24485656 | |
|
Intra
|
BRCA2 | P51587 | POLH | Homo sapiens | Q9Y253 | 24485656 | |
|
Intra
|
BRCA2 | P51587 | POLH | Homo sapiens | Q9Y253 | 24485656 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 22293751 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 12442171 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 15800615 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 22293751 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 21399666 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 17541404 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 20729832 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 17541404 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 21601571 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 10551859 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 10551859 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 9560268 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 18264088 | |
|
Intra
|
BRCA2 | P51587 | RAD51 | Homo sapiens | Q06609 | 15800615 | |
|
Intra
|
BRCA2 | P51587 | FANCD2 | Homo sapiens | Q9BXW9 | 18212739 | |
|
Intra
|
BRCA2 | P51587 | FANCD2 | Homo sapiens | Q9BXW9 | 15115758 | |
|
Intra
|
BRCA2 | P51587 | TP53 | Homo sapiens | P04637 | 20421506 | |
|
Intra
|
BRCA2 | P51587 | TP53 | Homo sapiens | P04637 | 20421506 | |
|
Intra
|
BRCA2 | P51587 | TP53 | Homo sapiens | P04637 | 20421506 | |
|
Intra
|
BRCA2 | P51587 | TP53 | Homo sapiens | P04637 | 20421506 | |
|
Intra
|
BRCA2 | P51587 | FANCD2 | Homo sapiens | Q9BXW9-2 | 18212739 | |
|
Intra
|
BRCA2 | P51587 | HMG20B | Homo sapiens | Q9P0W2 | 21399666 | |
|
Intra
|
BRCA2 | P51587 | HMG20B | Homo sapiens | Q9P0W2 | 21399666 | |
|
Intra
|
BRCA2 | P51587 | SEM1 | Homo sapiens | P60896 | 10373512 | |
|
Intra
|
BRCA2 | P51587 | SEM1 | Homo sapiens | P60896 | 24013206 | |
|
Intra
|
BRCA2 | P51587 | SEM1 | Homo sapiens | P60896 | 16205630 | |
|
Intra
|
BRCA2 | P51587 | SEM1 | Homo sapiens | P60896 | 16205630 | |
|
Intra
|
BRCA2 | P51587 | SEM1 | Homo sapiens | P60896 | 24013206 | |
|
Intra
|
BRCA2 | P51587 | SEM1 | Homo sapiens | P60896 | 22293751 | |
|
Intra
|
BRCA2 | P51587 | DMC1 | Homo sapiens | Q14565 | 17541404 | |
|
Intra
|
BRCA2 | P51587 | DMC1 | Homo sapiens | Q14565 | 17541404 | |
|
Intra
|
BRCA2 | P51587 | DMC1 | Homo sapiens | Q14565 | 20729832 | |
|
Intra
|
BRCA2 | P51587 | DMC1 | Homo sapiens | Q14565 | 17541404 |
BRCA2 Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P86790 | BRCA2 Antibody (YA6483) | WB, FC | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Fanconi Anemia, Complementation Group D1 |
|
|
| Breast Cancer |
|
|
| Breast-Ovarian Cancer, Familial 2 |
|
|
| Pancreatic Cancer 2 |
|
|
| Glioma Susceptibility 3 |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Wilms Tumor 1 |
|
|
| Medulloblastoma |
|
|
| Prostate Cancer |
|
|
| Bilateral Breast Cancer |
|
|
| Islet Cell Tumor |
|
|
| Headache |
|
|
| Ovarian Cancer 1 |
|
|
| Breast-Ovarian Cancer, Familial 1 |
|
|
| Chordoma |
|
|
| Diffuse Midline Glioma, H3 K27m-Mutant |
|
|
| Nephrolithiasis |
|
|
| Tumor Predisposition Syndrome 1 |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Osseous Heteroplasia, Progressive |
|
|
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Isolated Growth Hormone Deficiency, Type Ia |
|
|
| Esophageal Atresia |
|
|
| Pancreatic Cancer |
|
|
| Ovarian Cancer |
|
|
| Polydactyly |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Asthma |
|
|
| Rhabdomyosarcoma |
|
|
| Genetic Non-Acquired Premature Ovarian Failure |
|
|
| Gastric Cancer |
|
|
| Cholangiocarcinoma |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Colorectal Cancer |
|
|
| Hereditary Breast Cancer |
|
|
| Fallopian Tube Carcinoma |
|
|
| Polyposis Syndrome, Hereditary Mixed, 1 |
|
|
| Hereditary Site-Specific Ovarian Cancer Syndrome |
|
|
| Li-Fraumeni Syndrome |
|
|
| Hepatoblastoma |
|
|
| Fanconi Anemia, Complementation Group D2 |
|
|
| Ocular Cancer |
|
|
| Lynch Syndrome |
|
|
| Female Breast Cancer |
|
|
| Bloom Syndrome |
|
|
| Fanconi Anemia, Complementation Group F |
|
|
| Ataxia-Telangiectasia |
|
|
| Endometrial Cancer |
|
|
| Pancreatic Adenocarcinoma |
|
|
| Tetraploidy |
|
|
| Cerebral Palsy |
|
|
| Acinar Cell Carcinoma |
|
|
| Ocular Melanoma |
|
|
| Fallopian Tube Disease |
|
|
| Cowden Syndrome |
|
|
| Sporadic Breast Cancer |
|
|
| Adenocarcinoma |
|
|
| Peutz-Jeghers Syndrome |
|
|
| Bile Duct Cancer |
|
|
| Breast Carcinoma In Situ |
|
|
| Cowden Syndrome 1 |
|
|
| Breast Ductal Carcinoma |
|
|
| Dysplastic Nevus Syndrome |
|
|
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
|
| Peritoneum Cancer |
|
|
| Cancerophobia |
|
|
| Lobular Neoplasia |
|
|
| In Situ Carcinoma |
|
|
| Nosophobia |
|
|
| Pre-Malignant Neoplasm |
|
|
| Breast Disease |
|
|
| Ovarian Carcinosarcoma |
|
|
| Synchronous Bilateral Breast Carcinoma |
|
|
| Carcinosarcoma |
|
|
| Glioblastoma |
|
|
| Breast Lobular Carcinoma |
|
|
| Diffuse Gastric Cancer |
|
|
| Choroid Plexus Cancer |
|
|
| Serous Cystadenocarcinoma |
|
|
| Ductal Carcinoma In Situ |
|
|
| Ovarian Disease |
|
|
| Papillary Serous Adenocarcinoma |
|
|
| Tay-Sachs Disease |
|
|
| Fanconi Anemia, Complementation Group N |
|
|
| Hypertrophy Of Breast |
|
|
| Ovary Transitional Cell Carcinoma |
|
|
| Endosalpingiosis |
|
|
| Lynch Syndrome I |
|
|
| Combined Oxidative Phosphorylation Deficiency 17 |
|
|
| Pancreatic Acinar Cell Adenocarcinoma |
|
|
| Breast Benign Neoplasm |
|
|
| Thoracic Benign Neoplasm |
|
|
| Estrogen-Receptor Negative Breast Cancer |
|
|
| Basaloid Lung Carcinoma |
|
|
| Malignant Ovarian Surface Epithelial-Stromal Neoplasm |
|
|
| Mismatch Repair Cancer Syndrome |
|
|
| Ovarian Cystadenocarcinoma |
|
|
| Premature Menopause |
|
|
| Ovary Adenocarcinoma |
|
|
| Comedo Carcinoma |
|
|
| Cystadenocarcinoma |
|
|
| Physical Disorder |
|
|
| Female Reproductive Endometrioid Cancer |
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Muir-Torre Syndrome |
|
|
| Lung Cancer |
|
|
| Ovary Epithelial Cancer |
|
|
| Breast Fibroadenoma |
|
|
| Familial Adenomatous Polyposis 2 |
|
|
| Ovarian Serous Carcinoma |
|
|
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Neurofibromatosis, Type I |
|
|
| Ovarian Serous Cystadenocarcinoma |
|
|
| Melanoma |
|
|
| Ciliary Dyskinesia, Primary, 5 |
|
|
| Aplastic Anemia |
|
|
| Nijmegen Breakage Syndrome |
|
|
| Melanoma, Cutaneous Malignant 1 |
|
|
| Estrogen-Receptor Positive Breast Cancer |
|
|
| Uterine Corpus Cancer |
|
|
| Testicular Disease |
|
|
| Basal Cell Nevus Syndrome |
|
|
| Cerebellar Disease |
|
|
| Microcephaly |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Seckel Syndrome |
|
|
| Deficiency Anemia |
|
|
| Breast Adenocarcinoma |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
| Leukemia, Acute Myeloid |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | BRCA2 | VGNC | VGNC:60166 |
| Macaca mulatta | BRCA2 | VGNC | VGNC:70279 |
| Rattus norvegicus | BRCA2 | RGD | RGD:2219 |
| Mus musculus | BRCA2 | MGD | MGI:109337 |
| Bos taurus | BRCA2 | VGNC | VGNC:26554 |
| Canis familiaris | BRCA2 | VGNC | VGNC:38517 |
| Others | BRCA2 | NCBI |