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

Gene ID: 2776, updated on 7-Apr-2025

Summary

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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; AllianceGenome:HGNC:4390
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; CMAL; 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
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Genomic context

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See GNAQ in Genome Data Viewer
Location:
9q21.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (77716097..78031811, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (89873050..90188930, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (80331013..80646727, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene G protein subunit alpha 14 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr9:80200181-80201072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:80202401-80203306 Neighboring gene nuclear transport factor 2 pseudogene 3 Neighboring gene RNA, U6 small nuclear 1303, pseudogene Neighboring gene Sharpr-MPRA regulatory region 6496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28484 Neighboring gene MPRA-validated peak7274 silencer Neighboring gene uncharacterized LOC107987081 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:80571382-80571920 Neighboring gene Sharpr-MPRA regulatory region 6688 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:80627247-80627399 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:80645916-80646810 Neighboring gene uncharacterized LOC107987031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28485 Neighboring gene synaptogyrin 2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome. Huang L, et al. Pediatr Neurol, 2017 Feb. PMID 27919468, Free PMC Article
  2. Mutation of GNAQ in a cytologically unusual choroidal melanoma in an 18-month-old child. Levasseur SD, et al. JAMA Ophthalmol, 2013 Jun. PMID 23572156
  3. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. Shirley MD, et al. N Engl J Med, 2013 May 23. PMID 23656586, Free PMC Article
  4. Immunohistochemical and molecular pathology of ocular uveal melanocytoma: evidence for somatic GNAQ mutations. Mudhar HS, et al. Br J Ophthalmol, 2013 Jul. PMID 23685997
  5. UV light activates a Gαq/11-coupled phototransduction pathway in human melanocytes. Bellono NW, et al. J Gen Physiol, 2014 Feb. PMID 24470488, Free PMC Article

See all (346) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcription repression of estrogen receptor alpha by ghrelin/Gq/11/YAP signaling in granulosa cells promotes polycystic ovary syndrome.
    Title: Transcription repression of estrogen receptor alpha by ghrelin/Gq/11/YAP signaling in granulosa cells promotes polycystic ovary syndrome.
  2. Molecular mechanism of the endothelin receptor type B interactions with Gs, Gi, and Gq.
    Title: Molecular mechanism of the endothelin receptor type B interactions with Gs, Gi, and Gq.
  3. GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.
    Title: GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.
  4. Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
    Title: Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
  5. GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
    Title: GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
  6. Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
    Title: Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
  7. Galphaq Signaling Activates beta-Catenin-Dependent Gene Transcription.
    Title: Gαq Signaling Activates β-Catenin-Dependent Gene Transcription.
  8. GNAQ R183Q somatic mutation contributes to aberrant arteriovenous specification in Sturge-Weber syndrome through Notch signaling.
    Title: GNAQ R183Q somatic mutation contributes to aberrant arteriovenous specification in Sturge-Weber syndrome through Notch signaling.
  9. Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.
    Title: Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.
  10. Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.
    Title: Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.
Submit: New GeneRIF Correction See all GeneRIFs (216)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial multiple nevi flammei
MedGen: C2931029 OMIM: 163000 GeneReviews: Not available
Compare labs
Sturge-Weber syndrome
MedGen: C0038505 OMIM: 185300 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables G protein activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables G protein-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables G protein-coupled receptor binding IEA
Inferred from Electronic Annotation
more info
  
enables G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables G-protein beta/gamma-subunit complex binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP binding TAS
Traceable Author Statement
more info
  
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activity IEA
Inferred from Electronic Annotation
more info
  
enables GTPase activity TAS
Traceable Author Statement
more info
 PubMed 
enables enzyme regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables guanyl nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in G protein-coupled acetylcholine receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in blood coagulation TAS
Traceable Author Statement
more info
 PubMed 
involved_in entrainment of circadian clock ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glutamate receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neuropeptide signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phospholipase C-activating G protein-coupled glutamate receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phospholipase C-activating serotonin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phototransduction, visible light ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of platelet activation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to prostaglandin E IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
part_of heterotrimeric G-protein complex IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in lysosomal membrane HDA PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
is_active_in postsynaptic cytosol IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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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)

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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), LRG_1110

mRNA and Protein(s)

  1. NM_002072.5 → NP_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
    O15108, P50148, Q13462, Q6NT27, Q92471, Q9BZB9
    UniProtKB/TrEMBL
    A0A024R240, G9FP35
    Related
    ENSP00000286548.4, ENST00000286548.9
    Conserved Domains (1) summary
    cd00066
    Location:40 → 353
    G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047423239.1 → XP_047279195.1  guanine nucleotide-binding protein G(q) subunit alpha isoform X1

    UniProtKB/TrEMBL
    G9FP35

  2. XM_047423240.1 → XP_047279196.1  guanine nucleotide-binding protein G(q) subunit alpha isoform X1

    UniProtKB/TrEMBL
    G9FP35

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    89873050..90188930 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054362755.1 → XP_054218730.1  guanine nucleotide-binding protein G(q) subunit alpha isoform X1

    UniProtKB/TrEMBL
    G9FP35

  2. XM_054362756.1 → XP_054218731.1  guanine nucleotide-binding protein G(q) subunit alpha isoform X1

    UniProtKB/TrEMBL
    G9FP35
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50148.4 GenPept UniProtKB/Swiss-Prot:P50148

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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