Contents

GNAQ

Protein-coding gene in the species Homo sapiens

GNAQ
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2BCJ, 2RGN, 3AH8, 3OHM, 4EKC, 4EKD, 4GNK, 4QJ3, 4QJ4, 4QJ5
Identifiers
Aliases	GNAQ, CMC1, G-ALPHA-q, GAQ, SWS, G protein subunit alpha q
External IDs	OMIM: 600998; MGI: 95776; HomoloGene: 1566; GeneCards: GNAQ; OMA:GNAQ - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q21.2 Start 77,716,097 bp[1] End 78,031,811 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 A|19 11.01 cM Start 16,110,195 bp[2] End 16,364,827 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Region I of hippocampus proper dorsal motor nucleus of vagus nerve postcentral gyrus inferior olivary nucleus Brodmann area 46 pars reticulata entorhinal cortex orbitofrontal cortex Pars compacta subthalamic nucleus Top expressed in ventromedial nucleus arcuate nucleus anterior amygdaloid area mammillary body Rostral migratory stream lateral septal nucleus paraventricular nucleus of hypothalamus substantia nigra ventral tegmental area lateral hypothalamus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding type 2A serotonin receptor binding GTPase activator activity GTP binding metal ion binding protein binding GTPase activity guanyl nucleotide binding G protein-coupled receptor binding signal transducer activity G-protein beta/gamma-subunit complex binding Cellular component cytoplasm cell body nuclear membrane membrane plasma membrane photoreceptor outer segment lysosomal membrane dendrite extracellular exosome nucleus heterotrimeric G-protein complex intracellular anatomical structure Biological process G protein-coupled acetylcholine receptor signaling pathway skeletal system development negative regulation of protein kinase activity neuron remodeling embryonic digit morphogenesis protein stabilization blood coagulation post-embryonic development regulation of melanocyte differentiation activation of phospholipase C activity entrainment of circadian clock platelet activation forebrain neuron development heart development maternal behavior phototransduction, visible light developmental pigmentation signal transduction positive regulation of GTPase activity glutamate receptor signaling pathway action potential adenylate cyclase-activating G protein-coupled receptor signaling pathway phospholipase C-activating dopamine receptor signaling pathway G protein-coupled receptor signaling pathway adenylate cyclase-modulating G protein-coupled receptor signaling pathway regulation of canonical Wnt signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2776 14682 Ensembl ENSG00000156052 ENSMUSG00000024639 UniProt P50148 P21279 RefSeq (mRNA) NM_002072 NM_008139 RefSeq (protein) NP_002063 NP_002063.2 NP_032165 Location (UCSC) Chr 9: 77.72 – 78.03 Mb Chr 19: 16.11 – 16.36 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene.^[5] Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.^[6]

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]^[7]

Mutations in this gene have been found associated to cases of Sturge–Weber syndrome and port-wine stains.^[8]

GNAQ has been shown to interact with:

• Beta adrenergic receptor kinase,^[9]
• Bruton's tyrosine kinase,^[10]
• RGS16
• RGS4^[11]
• RIC8A,^[12][13] and
• Sodium-hydrogen antiporter 3 regulator 1.^[14]

• List of genes mutated in pigmented cutaneous lesions