GNAQ Chromosome 9
G protein subunit alpha q
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What This Gene Does
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.[provided by RefSeq, Nov 2010]
Gene Info
Gene Group
G protein subunits alpha, group q
Locus Type
gene with protein product
Location
9q21.2
Ensembl
ENSG00000156052
Associated Conditions (10)
Sturge-Weber syndrome
Abnormal cardiovascular system morphology
Familial multiple nevi flammei
Capillary malformation
Angioosteohypertrophic syndrome
Hemangiomatosis
Segmental undergrowth associated with capillary malformation
Neoplasm
GNAQ-related disorder
Melanoma
Key Variants
RS121913492
Pathogenic
Sturge-Weber syndrome, Abnormal cardiovascular system morphology, Sturge-Weber syndrome
Health Risk
RS1826677470
Pathogenic
Familial multiple nevi flammei, Familial multiple nevi flammei
Health Risk
RS2118444312
Pathogenic
Familial multiple nevi flammei, Familial multiple nevi flammei, Capillary malformation
Health Risk
RS397514698
Pathogenic
Capillary malformation, Sturge-Weber syndrome, Angioosteohypertrophic syndrome
Health Risk
RS2118276763
Pathogenic/Likely pathogenic
Sturge-Weber syndrome, Sturge-Weber syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121913492 | Health Risk | Pathogenic | Sturge-Weber syndrome, Abnormal cardiovascular system morphology, Sturge-Weber syndrome |
| RS1826677470 | Health Risk | Pathogenic | Familial multiple nevi flammei, Familial multiple nevi flammei |
| RS2118444312 | Health Risk | Pathogenic | Familial multiple nevi flammei, Familial multiple nevi flammei, Capillary malformation |
| RS397514698 | Health Risk | Pathogenic | Capillary malformation, Sturge-Weber syndrome, Angioosteohypertrophic syndrome |
| RS2118276763 | Health Risk | Pathogenic/Likely pathogenic | Sturge-Weber syndrome, Sturge-Weber syndrome |