GABBR2 wt Allele

Preferred Label : GABBR2 wt Allele;

NCIt synonyms : Gamma-Aminobutyric Acid (GABA) B Receptor, 2 wt Allele; GABABR2; GPR51; HG20; GPRC3B; HRIHFB2099;

NCIt definition : Human GABBR2 wild-type allele is located within 9q22.1-q22.3 and is approximately 421 kb in length. This allele, which encodes gamma-aminobutyric acid type B receptor subunit 2 protein, is involved in gamma-aminobutyric acid-mediated signaling.;

NCIt note : A fusion of this gene with the NOTCH1 gene may be associated with breast carcinoma. (Nature Medicine. 2011; 17:1646-1651.);

GenBank Accession Number : AF069755;

Details

Origin ID

C101482;

UMLS CUI

C3539627;

OMIM relation
- Gamma-aminobutyric acid b receptor 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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