GNAQ

Gene Information
 
Gene Symbol
GNAQ
 
Aliases
CMC1, G-ALPHA-q, GAQ, SWS
 
Entrez Gene ID
 
Gene Name
G protein subunit alpha q
 
Chromosomal Location
9q21.2
 
HGNC ID
 
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001508 Biological process Action potential IBA 21873635
GO:0006469 Biological process Negative regulation of protein kinase activity IMP 20399743
GO:0007188 Biological process Adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA 21873635
GO:0007189 Biological process Adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA 21873635
GO:0007202 Biological process Activation of phospholipase C activity TAS 8825633
Protein Information
 
Protein Name
Guanine nucleotide-binding protein G(q) subunit alpha, epididymis secretory sperm binding protein, guanine nucleotide binding protein (G protein), q polypeptide, guanine nucleotide-binding protein alpha-q
 
Function
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity).
 
Refseq Proteins
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF00503 G-alpha
Pathways
 
KEGG
 
Reactome
 

Rap1 signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
Sphingolipid signaling pathway
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Apelin signaling pathway
Gap junction
Platelet activation
Circadian entrainment
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
Dopaminergic synapse
Long-term depression
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Endocrine and other factor-regulated calcium reabsorption
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Alzheimer disease
Huntington disease
Chagas disease (American trypanosomiasis)
African trypanosomiasis
Amoebiasis
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer

 

Acetylcholine regulates insulin secretion
G alpha (q) signalling events
ADP signalling through P2Y purinoceptor 1
Thromboxane signalling through TP receptor
Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
Thrombin signalling through proteinase activated receptors (PARs)

Interactions
 
STRING MINT IntAct
ENSP00000445122 P26439
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Blood Disorders
Blood Coagulation Disorders
Cardiovascular Diseases
Capillary malformation
Cardiovascular Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Nevus flammeus
Endocrine System Diseases
PCOS
References
 

A functional GNAQ promoter haplotype is associated with altered Gq expression and with insulin resistance and obesity in women with polycystic ovary syndrome.

Klenke Stefanie, Tan Susanne, Hahn Susanne, Mann Klaus, Hauner Hans, Manthey Iris, Peters Jurgen, Siffert Winfried, Frey Ulrich H
Institut fur Pharmakogenetik, Universitat Duisburg-Essen and Universitatsklinikum Essen, Essen, Germany.
Pharmacogenet Genomics. 2010 Aug;20(8):476-84. doi: 10.1097/FPC.0b013e32833b7497.

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