Homo sapiens Gene: GNAQ
Summary
InnateDB Gene IDBG-72455.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNAQ
Gene Name guanine nucleotide binding protein (G protein), q polypeptide
Synonyms CMC1; G-ALPHA-q; GAQ; SWS;
Species Homo sapiens
Ensembl Gene ENSG00000156052
Encoded Proteins
guanine nucleotide binding protein (G protein), q polypeptide
guanine nucleotide binding protein (G protein), q polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez 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.[provided by RefSeq, Nov 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:77716087-78031458
Strand Reverse strand
Band q21.2
Transcripts
ENST00000286548 ENSP00000286548
ENST00000411677 ENSP00000391501
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 55 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 55 [view]
Protein-Protein 55 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0031826 type 2A serotonin receptor binding
GO:0046872 metal ion binding
Biological Process
GO:0001501 skeletal system development
GO:0001508 action potential
GO:0006184 GTP catabolic process
GO:0006469 negative regulation of protein kinase activity
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007202 activation of phospholipase C activity
GO:0007215 glutamate receptor signaling pathway
GO:0007507 heart development
GO:0007596 blood coagulation
GO:0009791 post-embryonic development
GO:0016322 neuron remodeling
GO:0021884 forebrain neuron development
GO:0030168 platelet activation
GO:0035412 regulation of catenin import into nucleus
GO:0042711 maternal behavior
GO:0042733 embryonic digit morphogenesis
GO:0043547 positive regulation of GTPase activity
GO:0045634 regulation of melanocyte differentiation
GO:0048066 developmental pigmentation
GO:0050821 protein stabilization
GO:0060158 phospholipase C-activating dopamine receptor signaling pathway
Cellular Component
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0031965 nuclear membrane
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Leptin pathway
TSH pathway
REACTOME
Integration of energy metabolism pathway
Thrombin signalling through proteinase activated receptors (PARs) pathway
Gastrin-CREB signalling pathway via PKC and MAPK pathway
G alpha (q) signalling events pathway
Signaling by GPCR pathway
Platelet activation, signaling and aggregation pathway
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion pathway
Signal Transduction pathway
GPCR downstream signaling pathway
Acetylcholine regulates insulin secretion pathway
Free fatty acids regulate insulin secretion pathway
Thromboxane signalling through TP receptor pathway
ADP signalling through P2Y purinoceptor 1 pathway
Regulation of insulin secretion pathway
Metabolism pathway
Signal amplification pathway
Hemostasis pathway
KEGG
Calcium signaling pathway pathway
Vascular smooth muscle contraction pathway
Gap junction pathway
Long-term potentiation pathway
Long-term depression pathway
GnRH signaling pathway pathway
Melanogenesis pathway
Salivary secretion pathway
Gastric acid secretion pathway
Pancreatic secretion pathway
Alzheimer's disease pathway
Huntington's disease pathway
Chagas disease (American trypanosomiasis) pathway
African trypanosomiasis pathway
Amoebiasis pathway
INOH
GPCR signaling pathway
GPCR GroupI metabotropic glutamate receptor signaling pathway pathway
PID BIOCARTA
Signaling pathway from g-protein families [Biocarta view]
Ccr3 signaling in eosinophils [Biocarta view]
Cxcr4 signaling pathway [Biocarta view]
Actions of nitric oxide in the heart [Biocarta view]
Thrombin signaling and protease-activated receptors [Biocarta view]
G-protein signaling through tubby proteins [Biocarta view]
Angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling [Biocarta view]
Effects of calcineurin in keratinocyte differentiation [Biocarta view]
Pertussis toxin-insensitive ccr5 signaling in macrophage [Biocarta view]
Pkc-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase [Biocarta view]
Activation of pkc through g-protein coupled receptors [Biocarta view]
Links between pyk2 and map kinases [Biocarta view]
PID NCI
Arf6 signaling events
Cross-References
SwissProt P50148
TrEMBL A0A024R240 B1AM21 G3V1P7
UniProt Splice Variant
Entrez Gene 2776
UniGene Hs.269782 Hs.594695 Hs.607667
RefSeq NM_002072
HUGO HGNC:4390
OMIM 600998
CCDS CCDS6658
HPRD
IMGT
EMBL AF011496 AF329284 AF493896 AL160268 AL160278 AL355535 BC057777 BC067850 BC069520 BC075096 BC075097 CH471089 L40629 L76256 U40038 U43083
GenPept AAA99950 AAB06875 AAB39498 AAB64301 AAC50363 AAG61117 AAH57777 AAH67850 AAH69520 AAH75096 AAH75097 AAM12610 CAI12198 CAI14669 CAI15999 EAW62605 EAW62607 EAW62608 EAW62610
RNA Seq Atlas 2776