BRCA2 wt Allele

Preferred Label : BRCA2 wt Allele;

NCIt synonyms : Breast Cancer 2 Gene; XRCC11; BRCA2, DNA Repair Associated wt Allele; FANCD1; Breast Cancer Type 2 Susceptibility Gene; Breast Cancer 2, Early Onset wt Allele; PNCA2; Hereditary Breast Cancer 2 Gene; FACD; BROVCA2; FAD1; BRCC2; FAD; FANCD; GLM3;

NCIt definition : Human BRCA2 wild-type allele is located in the vicinity of 13q12.3 and is approximately 84 kb in length. This allele, which encodes breast cancer type 2 susceptibility protein, is involved in double-stranded DNA break repair, homologous recombination and transcriptional regulation. Certain allelic variants of the BRCA2 gene are associated with early-onset breast cancer, prostate cancer and Fanconi anemia.;

GenBank Accession Number : NM_000059;

Details

Origin ID

C52061;

UMLS CUI

C1705143;

OMIM relation
- Brca2 dna repair-associated protein [OMIM gene]
See also inter- (CISMeF)
- Breast-ovarian cancer, familial, susceptibility to, 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- Inactivating BRCA2 Gene Mutation [NCIt concept]
gene_has_physical_location
- 13: 31787617-31871805 [NCIt concept]
gene_in_chromosomal_location
- 13q12.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- BRCA-Associated Malignant Neoplasm [NCIt concept]
- BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome [NCIt concept]
- Fanconi Anemia, Complementation Group D1 [NCIt concept]
gene_is_element_in_pathway
- Cancer Susceptibility Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation [NCIt concept]
- DNA Repair [NCIt concept]
- Double Strand Break Repair [NCIt concept]
- Homologous Recombination [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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