Terminology Service for NFDI4Health
BRCA2 Gene
Go to external page
http://purl.obolibrary.org/obo/NCIT_C18120
This gene is involved in cell cycle control, DNA repair and the maintenance of genomic stability. It also plays a role in the proliferation of embryonic cells. [ ]
Term info
Label
BRCA2 Gene
Synonyms
- BRCA2
- BRCA2 Gene
- BRCA2, DNA Repair Associated Gene
- Breast Cancer 2, Early Onset Gene
Subsets
NCIT_C116977, NCIT_C142801, NCIT_C142800, NCIT_C142799
ALT DEFINITION
A gene on chromosome 13 that normally helps to suppress cell growth. A person who inherits an altered version of the BRCA2 gene has a higher risk of getting breast, ovarian, or prostate cancer.
Contributing Source
CTRP
Display Name
BRCA2 Gene
HGNC ID
HGNC:1101
Legacy Concept Name
BRCA2_Gene
Maps To
BRCA2
OMIM Number
600185
Preferred Name
BRCA2 Gene
Semantic Type
Gene or Genome
UMLS CUI
C0598034
code
C18120
Term relations
Subclass of:
- FA Complementation Group Gene
- Gene_Plays_Role_In_Process some Cell Differentiation Process
- Gene_Plays_Role_In_Process some Cell Proliferation
- Gene_Plays_Role_In_Process some Transcriptional Activation
- Gene_Involved_In_Pathogenesis_Of_Disease some BRCA2 Syndrome
- Gene_Involved_In_Pathogenesis_Of_Disease some High Grade Fallopian Tube Serous Adenocarcinoma
- Gene_Involved_In_Pathogenesis_Of_Disease some Pancreatic Intraepithelial Neoplasia-3
- Gene_Plays_Role_In_Process some Tumor Suppression
- Gene_Has_Abnormality some BRCA2 Gene Inactivation
- Gene_Involved_In_Pathogenesis_Of_Disease some High Grade Ovarian Serous Adenocarcinoma
- Gene_Plays_Role_In_Process some Double Strand Break Repair
- Gene_Involved_In_Pathogenesis_Of_Disease some Hereditary Male Breast Carcinoma
- Gene_Involved_In_Pathogenesis_Of_Disease some Hereditary Prostate Carcinoma
- Gene_Plays_Role_In_Process some Homologous Recombination
- Gene_Involved_In_Pathogenesis_Of_Disease some Pancreatic Ductal Adenocarcinoma
- Gene_Involved_In_Pathogenesis_Of_Disease some Hereditary Female Breast Carcinoma