Preferred Label : Breast Cancer Type 2 Susceptibility Protein;
NCIt synonyms : BRCA2 Protein; Fanconi Anemia Group D1 Protein; BRCA2; Breast Cancer 2 Tumor Suppressor; FANCD1; Breast Cancer 2, Early Onset Protein; Breast and Ovarian Cancer Susceptibility Protein 2; BRCA1/BRCA2-Containing Complex, Subunit 2;
NCIt definition : Breast cancer type 2 susceptibility protein (3418 aa, 384 kDa) is encoded by the
human BRCA2 gene. This protein plays a role in both cell cycle regulation and DNA
repair.;
NCIt note : Encoded by human BRCA2 Gene, the highly charged 3,418-amino acid 384 kD putative tumor
suppressor BRCA2 Protein is expressed (G1/S peak) in rapidly proliferating cells in
breast, thymus, lung, ovary, and spleen. With no signal sequence, no membrane regions,
and little similarity to other proteins, BRCA2 function is not known; a N-terminus
similar to JUN activation domain is capable of activating transcription. BRCA2 may
regulate cell proliferation and differentiation. BRCA2/BRCA1 may activate double-strand
break repair or homologous recombination. BRCA2 may interact as a cofactor with RAD51
DNA-repair protein; the interaction with BRCA2 BRC3 or BRC4 regions blocks nucleoprotein
filament formation. BRCA2 may also regulate the location and DNA-binding ability of
RAD51. BRCA2 mutations are linked to elevated risk of breast cancer. (Swiss-Prot,
OMIM);
Origin ID : C17916;
UMLS CUI : C2973986;
Currated CISMeF NLP mapping
- OMIM relation
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- gene_encodes_gene_product
- gene_product_expressed_in_tissue
- gene_product_has_associated_anatomy
- gene_product_has_biochemical_function
- gene_product_has_gene_product_variant
- gene_product_has_organism_source
- gene_product_is_biomarker_type
- gene_product_is_element_in_pathway
- gene_product_malfunction_associated_with_disease
- gene_product_plays_role_in_biological_process
