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

Gene ID: 2776, updated on 7-Sep-2023

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_2023_03 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (77716097..78031811, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (89873050..90188930, complement)
105.20220307 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 uncharacterized LOC107987081 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:80571382-80571920 Neighboring gene Sharpr-MPRA regulatory region 6688 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:80645916-80646810 Neighboring gene uncharacterized LOC107987031 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: 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

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Related articles in PubMed

  1. Palmitoylation of GNAQ/11 is critical for tumor cell proliferation and survival in GNAQ/11-mutant uveal melanoma. Zhang Y, et al. Front Med, 2022 Oct. PMID 35997986
  2. A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis. Galeffi F, et al. Angiogenesis, 2022 Nov. PMID 35635655, Free PMC Article
  3. Assessing Gq-GPCR-induced human astrocyte reactivity using bioengineered neural organoids. Cvetkovic C, et al. J Cell Biol, 2022 Feb 9. PMID 35139144, Free PMC Article
  4. The GNAQ T96S Mutation Affects Cell Signaling and Enhances the Oncogenic Properties of Hepatocellular Carcinoma. Choi E, et al. Int J Mol Sci, 2021 Mar 23. PMID 33807071, Free PMC Article
  5. Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome. Wu Y, et al. Br J Ophthalmol, 2022 Jul. PMID 33707187, Free PMC Article

See all (330) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Galphaq Signaling Activates beta-Catenin-Dependent Gene Transcription.
    Title: Gαq Signaling Activates β-Catenin-Dependent Gene Transcription.
  2. 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.
  3. 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.
  4. 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.
  5. Palmitoylation of GNAQ/11 is critical for tumor cell proliferation and survival in GNAQ/11-mutant uveal melanoma.
    Title: Palmitoylation of GNAQ/11 is critical for tumor cell proliferation and survival in GNAQ/11-mutant uveal melanoma.
  6. A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.
    Title: A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.
  7. Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
    Title: Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
  8. Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.
    Title: Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.
  9. In uveal melanoma Galpha-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Galpha-protein GNAQ mutations.
    Title: In uveal melanoma Gα-protein GNA11 mutations convey a shorter disease-specific survival and are more strongly associated with loss of BAP1 and chromosomal alterations than Gα-protein GNAQ mutations.
  10. Synthetic Lethal Screens Reveal Cotargeting FAK and MEK as a Multimodal Precision Therapy for GNAQ-Driven Uveal Melanoma.
    Title: Synthetic Lethal Screens Reveal Cotargeting FAK and MEK as a Multimodal Precision Therapy for GNAQ-Driven Uveal Melanoma.
Submit: New GeneRIF Correction See all GeneRIFs (210)

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)

Genotypes

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-coupled receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables G-protein beta/gamma-subunit complex binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables GTP binding TAS
Traceable Author Statement
more info
  
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables GTPase activator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables GTPase activity TAS
Traceable Author Statement
more info
  
enables metal ion 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 action potential IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in activation of phospholipase C activity TAS
Traceable Author Statement
more info
 PubMed 
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 
involved_in negative regulation of protein kinase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phospholipase C-activating dopamine receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
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
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
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
 PubMed 
located_in lysosomal membrane HDA PubMed 
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor outer segment ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  

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_2023_03

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

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