Version 2.77


The GNAQ (G protein subunit alpha q) gene [HGNC Gene ID:4390] is located on chromosome 9 at 9q21.2. This gene encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010] [NCBI Gene ID:2776] Somatic mutations in GNAQ have been found in approximately 50% of uveal melanomas, with the majority at codon 209 (Q209) within exon 5 of the gene. PMID: 21083380 Source: National Center for Biotechnology Information (NCBI) Gene

Basic Part Properties

Part Display Name
GNAQ gene
Part Type
Component (Describes the core component or analyte measured)
Created On
Construct for LOINC Short Name
GNAQ gene

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup$lookup?system=

Language Variants Get Info

Tag Language Translation
it-IT Italian (Italy) GNAQ, gene
Synonyms: Gene GNAQ
es-ES Spanish (Spain) Gen GNAQ
zh-CN Chinese (China) GNAQ 基因
nl-NL Dutch (Netherlands) GNAQ-gen