Gene: GNAQ

Alternate names for this Gene: CMC1|G-ALPHA-q|GAQ|SWS

Gene Summary: This locus 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q21.2

Description of this Gene: G protein subunit alpha q

Type of Gene: protein-coding

rs11145656 in GNAQ gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs13291723 in GNAQ gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs397514698 in GNAQ gene and Sturge-Weber Syndrome PMID 23656586 2013 We identified a nonsynonymous single-nucleotide variant (c.548G→A, p.Arg183Gln) in GNAQ in samples of affected tissue from 88% of the participants (23 of 26) with the Sturge-Weber syndrome and from 92% of the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the samples of affected tissue from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from the 6 controls.

rs1057519853 in GNAQ gene and Uveal melanoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121913492 in GNAQ gene and melanoma PMID 22808163 2012 Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype.

PMID 22253748 2012 The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma.

PMID 21083380 2010 Mutations in GNA11 in uveal melanoma.

PMID 19078957 2009 Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.

PMID 18719078 2008 Oncogenic mutations in GNAQ occur early in uveal melanoma.

PMID 1328859 1992 Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells.

PMID 22733540 2012 Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas.

PMID 2549426 1989 GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

PMID 22653968 2012 Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways.