GNAQ

Gene Information
 
Gene Symbol
GNAQ
 
Aliases
CMC1, G-ALPHA-q, GAQ, SWS
 
Entrez Gene ID
 
Gene Name
Guanine nucleotide binding protein (G protein), q polypeptide
 
Chromosomal Location
9q21
 
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.
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006184 Biological process GTP catabolic process TAS 9238049
GO:0007202 Biological process Activation of phospholipase C activity TAS 8825633
GO:0043547 Biological process Positive regulation of GTPase activity IDA 15611106
GO:0005737 Cellular component Cytoplasm TAS 9175863
GO:0003924 Molecular function GTPase activity EXP 7937899
Protein Information
 
Protein Name
Guanine nucleotide-binding protein G(q) subunit alpha
 
Function
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems
 
Refseq Proteins
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00503 G-alpha G-protein alpha subunit
 
KEGG
 
OMIM
 
Interactions
STRING MINT I2D
ENSP00000286548 P50148

Associated Diseases

Diseases References
Cardiac hypertrophy 14605019, 9223325
   
References
 
Primary:

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.

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26308735, PMC4550465
Pathway Analysis Based on a Genome-Wide Association Study of Polycystic Ovary Syndrome. 
Clinical study 

 

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