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

    Gene ID: 2776, updated on 10-Dec-2024

    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; 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

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity PubMed 
    enables G protein-coupled receptor binding  
    enables G-protein beta/gamma-subunit complex binding  
    enables GTP binding  
    enables GTPase activator activity  
    enables GTPase activator activity PubMed 
    enables GTPase activity  
    enables GTPase activity  
    enables enzyme regulator activity PubMed 
    enables metal ion binding  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled acetylcholine receptor signaling pathway  
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway  
    involved_in blood coagulation PubMed 
    involved_in entrainment of circadian clock  
    involved_in glutamate receptor signaling pathway  
    involved_in negative regulation of protein kinase activity PubMed 
    involved_in neuropeptide signaling pathway PubMed 
    involved_in phospholipase C-activating G protein-coupled glutamate receptor signaling pathway PubMed 
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway PubMed 
    involved_in phospholipase C-activating serotonin receptor signaling pathway PubMed 
    involved_in phototransduction, visible light  
    involved_in protein stabilization PubMed 
    involved_in regulation of canonical Wnt signaling pathway PubMed 
    involved_in regulation of platelet activation  
    involved_in response to prostaglandin E PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus  
    is_active_in cytoplasm  
    located_in extracellular exosome PubMed 
    part_of heterotrimeric G-protein complex  
    located_in lysosomal membrane PubMed 
    located_in nuclear membrane  
    located_in photoreceptor outer segment  
    is_active_in plasma membrane PubMed 
    located_in plasma membrane  
    is_active_in postsynaptic cytosol PubMed 

    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)

    NEW Try the new Transcript table

    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
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