Seroatlas · Human Serome Atlas

GNAQ

Guanine nucleotide-binding protein G(q) subunit alpha

Also known as: G-ALPHA-q, GAQ, GNAQ_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P50148
Gene
GNAQ
Ensembl
ENSG00000156052
Chromosome
9
Canonical length
359 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nuclear speckles,Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

359 residues, UniProt reviewed canonical sequence.

>P50148|GNAQ
     1  MTLESIMACC LSEEAKEARR INDEIERQLR RDKRDARREL KLLLLGTGES GKSTFIKQMR
    61  IIHGSGYSDE DKRGFTKLVY QNIFTAMQAM IRAMDTLKIP YKYEHNKAHA QLVREVDVEK
   121  VSAFENPYVD AIKSLWNDPG IQECYDRRRE YQLSDSTKYY LNDLDRVADP AYLPTQQDVL
   181  RVRVPTTGII EYPFDLQSVI FRMVDVGGQR SERRKWIHCF ENVTSIMFLV ALSEYDQVLV
   241  ESDNENRMEE SKALFRTIIT YPWFQNSSVI LFLNKKDLLE EKIMYSHLVD YFPEYDGPQR
   301  DAQAAREFIL KMFVDLNPDS DKIIYSHFTC ATDTENIRFV FAAVKDTILQ LNLKEYNLV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GNAQ can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
47 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 47 nTPM
  • bone marrow: 41 nTPM
  • spinal cord: 35 nTPM
  • hippocampal formation: 34 nTPM
  • amygdala: 33 nTPM
  • lung: 29 nTPM

Single-cell type

  • neutrophils: 3,046 nCPM
  • neutrophil progenitors: 2,053 nCPM
  • megakaryocyte-erythroid progenitors: 1,329 nCPM
  • microglia: 1,164 nCPM
  • megakaryocyte progenitors: 1,109 nCPM
  • hematopoietic stem cells: 1,016 nCPM

Immune cell

  • basophil: 27 nTPM
  • neutrophil: 8.9 nTPM
  • eosinophil: 5.7 nTPM
  • non-classical monocyte: 4.5 nTPM
  • NK-cell: 3.5 nTPM
  • plasmacytoid DC: 3.2 nTPM

Brain region

  • hippocampal formation: 111 nTPM
  • white matter: 104 nTPM
  • cerebral cortex: 100 nTPM
  • hypothalamus: 99 nTPM
  • midbrain: 96 nTPM
  • spinal cord: 94 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GNAQ.

Disease | AllUniProt

Conditions GNAQ is implicated in, by any mechanism.

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 67 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Sturge-Weber syndrome
  • Familial multiple nevi flammei
  • Capillary malformation
  • Segmental undergrowth associated with capillary malformation
  • Hemangiomatosis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.3
gnomAD pLI
0.98
gnomAD missense Z
3.66
DepMap mean gene effect
-0.22
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GNAQ in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GNAQ as an antibody target. Whether an autoantibody or antibody against GNAQ could matter depends on whether native GNAQ is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GNAQ is annotated at the cell surface, where native GNAQ is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label GNAQ as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GNAQ. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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