GNAQ wt Allele

Preferred Label : GNAQ wt Allele;

NCIt synonyms : GAQ; SWS; Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide Gene; G Protein Subunit Alpha q wt Allele; G-ALPHA-q; CMC1;

NCIt definition : Human GNAQ wild-type allele is located in the vicinity of 9q21 and is approximately 315 kb in length. This allele, which encodes guanine nucleotide-binding protein G(q) subunit alpha protein, plays a role in the regulation of phospholipase C-beta activation.;

NCIt note : Mutations and deletions of the GNAQ gene may be associated with uveal melanoma (NCI Cancer Bulletin, Dec 16, 2008).;

GenBank Accession Number : NM_002072;

Details

Origin ID

C52650;

UMLS CUI

C1708132;

OMIM relation
- Guanine nucleotide-binding protein, q polypeptide [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_has_physical_location
- 9: 77875746-77564747 [NCIt concept]
gene_in_chromosomal_location
- 9q21 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Uveal Melanoma [NCIt concept]
gene_is_element_in_pathway
- Angiotensin II Signaling Pathway [NCIt concept]
- CCR3 Signaling Pathway [NCIt concept]
- CCR5 Signaling Pathway [NCIt concept]
- CXCR4 Signaling Pathway [NCIt concept]
- Calcineurin Pathway [NCIt concept]
- G-Protein Signaling Pathway [NCIt concept]
- Myosin Phosphatase Pathway [NCIt concept]
- Protein Kinase C Activation Pathway [NCIt concept]
- Pyk2 and Map Kinase Pathway [NCIt concept]
- T-Cell Antiapoptosis Pathway [NCIt concept]
- Thrombin/Protease-Activated Receptor Signaling Pathway [NCIt concept]
- Tubby Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Environment-to-Cell Communication [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- GTP Binding [NCIt concept]
- Hydrolysis [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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