Gene
brca2
- ID
- ZDB-GENE-060510-3
- Name
- BRCA2 DNA repair associated
- Symbol
- brca2 Nomenclature History
- Previous Names
-
- fancd1 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Involved in animal organ development; sex determination; and spermatogenesis. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); brain cancer (multiple); hereditary breast ovarian cancer syndrome; melanoma (multiple); and reproductive organ cancer (multiple). Is expressed in gonad; heart; intermediate cell mass of mesoderm; intermediate mesoderm; and nervous system. Orthologous to human BRCA2 (BRCA2 DNA repair associated).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 20 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| breast cancer | Alliance | {Breast cancer, male, susceptibility to} | 114480 |
| Fanconi anemia complementation group D1 | Alliance | Fanconi anemia, complementation group D1 | 605724 |
| medulloblastoma | Alliance | {Medulloblastoma} | 155255 |
| nephroblastoma | Alliance | Wilms tumor | 194070 |
| prostate cancer | Alliance | {Prostate cancer} | 176807 |
| {Breast-ovarian cancer, familial, 2} | 612555 | ||
| {Glioblastoma 3} | 613029 | ||
| {Pancreatic cancer 2} | 613347 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR015187 | BRCA2, OB1 |
| Domain | IPR015188 | BRCA2, OB3 |
| Domain | IPR015205 | Tower domain |
| Domain | IPR015252 | Breast cancer type 2 susceptibility protein, helical domain |
| Domain | IPR048262 | BRCA2, OB2 domain |
| Family | IPR015525 | Breast cancer type 2 susceptibility protein |
| Homologous_superfamily | IPR012340 | Nucleic acid-binding, OB-fold |
| Homologous_superfamily | IPR036315 | BRCA2 helical domain superfamily |
| Repeat | IPR002093 | BRCA2 repeat |
Domain Details Per Protein
| Protein | Length | BRCA2 helical domain superfamily | BRCA2, OB1 | BRCA2, OB2 domain | BRCA2, OB3 | BRCA2 repeat | Breast cancer type 2 susceptibility protein | Breast cancer type 2 susceptibility protein, helical domain | Nucleic acid-binding, OB-fold | Tower domain |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2B481
|
2874 |
Interactions and Pathways
No data available
Plasmids
No data available