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Title: Gnaq  
Author: World Heritage Encyclopedia
Language: English
Subject: Port-wine stain, Sturge–Weber syndrome, Bruton's tyrosine kinase, Beta adrenergic receptor kinase, Heterotrimeric G protein, Gq alpha subunit
Publisher: World Heritage Encyclopedia


Guanine nucleotide binding protein (G protein), q polypeptide
PDB rendering based on 2bcj.
Available structures
PDB Ortholog search: RCSB
RNA expression pattern

Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene.[1]

Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GDP for GTP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).[supplied by OMIM][2]

Mutations in this gene have been found associated to cases of Sturge-Weber syndrome and port-wine stains.[3]


GNAQ has been shown to interact with Sodium-hydrogen antiporter 3 regulator 1,[4] RIC8A,[5][6] RGS16,[7] Beta adrenergic receptor kinase,[8] RGS4[7][9] and Bruton's tyrosine kinase.[10]

See also

  • List of genes mutated in pigmented cutaneous lesions


Further reading

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