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GNAQ G protein subunit alpha q [ Homo sapiens (human) ]

Gene ID: 2776, updated on 1-Jun-2020

Summary

Official Symbol
GNAQprovided by HGNC
Official Full Name
G protein subunit alpha qprovided by HGNC
Primary source
HGNC:HGNC:4390
See related
Ensembl:ENSG00000156052 MIM:600998
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAQ; SWS; CMC1; G-ALPHA-q
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]
Expression
Ubiquitous expression in brain (RPKM 36.1), lung (RPKM 23.2) and 25 other tissues See more
Orthologs

Genomic context

See GNAQ in Genome Data Viewer
Location:
9q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (77716097..78031811, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (80335189..80646219, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene G protein subunit alpha 14 Neighboring gene RNA, U6 small nuclear 1303, pseudogene Neighboring gene Sharpr-MPRA regulatory region 6496 Neighboring gene uncharacterized LOC107987081 Neighboring gene Sharpr-MPRA regulatory region 6688 Neighboring gene uncharacterized LOC107987031 Neighboring gene synaptogyrin 2 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
type 2A serotonin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled acetylcholine receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
action potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of phospholipase C activity TAS
Traceable Author Statement
more info
PubMed 
adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylate cyclase-modulating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
entrainment of circadian clock ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamate receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipase C-activating dopamine receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phototransduction, visible light ISS
Inferred from Sequence or Structural Similarity
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome HDA PubMed 
heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane HDA PubMed 
nuclear membrane IEA
Inferred from Electronic Annotation
more info
 
photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
guanine nucleotide-binding protein G(q) subunit alpha
Names
epididymis secretory sperm binding protein
guanine nucleotide binding protein (G protein), q polypeptide
guanine nucleotide-binding protein alpha-q

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027904.2 RefSeqGene

    Range
    4493..320207
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002072.5NP_002063.2  guanine nucleotide-binding protein G(q) subunit alpha

    See identical proteins and their annotated locations for NP_002063.2

    Status: REVIEWED

    Source sequence(s)
    AL160278, AL355535, BC067850
    Consensus CDS
    CCDS6658.1
    UniProtKB/Swiss-Prot
    P50148
    UniProtKB/TrEMBL
    A0A024R240
    Related
    ENSP00000286548.4, ENST00000286548.9
    Conserved Domains (1) summary
    cd00066
    Location:40353
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    77716097..78031811 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014628.2XP_016870117.1  guanine nucleotide-binding protein G(q) subunit alpha isoform X1

    Conserved Domains (1) summary
    cd00066
    Location:1295
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)
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