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Aliases for GNAQ Gene

Aliases for GNAQ Gene

  • Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide 2 3
  • Guanine Nucleotide-Binding Protein Alpha-Q 3 4
  • CMC1 3 6
  • SWS 3 6
  • GAQ 3 4
  • Guanine Nucleotide-Binding Protein G(Q) Subunit Alpha 3
  • G-ALPHA-Q 3

External Ids for GNAQ Gene

Previous GeneCards Identifiers for GNAQ Gene

  • GC09M071382
  • GC09M072192
  • GC09M073904
  • GC09M075792
  • GC09M077564
  • GC09M079520
  • GC09M080331
  • GC09M050167

Summaries for GNAQ Gene

Entrez Gene Summary for GNAQ 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]

GeneCards Summary for GNAQ Gene

GNAQ (Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide) is a Protein Coding gene. Diseases associated with GNAQ include sturge-weber syndrome, somatic, mosaic and capillary malformations, congenital, 1, somatic, mosaic. Among its related pathways are Ras signaling pathway and Signaling by GPCR. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNA14.

UniProtKB/Swiss-Prot for GNAQ Gene

  • Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity).

Tocris Summary for GNAQ Gene

  • Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand-receptor binding results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of second messenger signalling cascades. There are several types of Galpha proteins; Galphaq/11 stimulates PLCbeta which catalyses the hydrolysis of PIP2 to the second messengers IP3 and DAG.

Gene Wiki entry for GNAQ Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNAQ Gene

Genomics for GNAQ Gene

Regulatory Elements for GNAQ Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GNAQ Gene

77,716,087 bp from pter
78,031,458 bp from pter
315,372 bases
Minus strand

Genomic View for GNAQ Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GNAQ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNAQ Gene

Proteins for GNAQ Gene

  • Protein details for GNAQ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Guanine nucleotide-binding protein G(q) subunit alpha
    Protein Accession:
    Secondary Accessions:
    • O15108
    • Q13462
    • Q6NT27
    • Q92471
    • Q9BZB9

    Protein attributes for GNAQ Gene

    359 amino acids
    Molecular mass:
    42142 Da
    Quaternary structure:
    • G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Binds SLC9A3R1. Forms a complex with PECAM1 and BDKRB2. Interacts with PECAM1.

neXtProt entry for GNAQ Gene

Proteomics data for GNAQ Gene at MOPED

Post-translational modifications for GNAQ Gene

  • Ubiquitination at Lys16 and Lys102
  • Modification sites at PhosphoSitePlus

Other Protein References for GNAQ Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GNAQ (G-alpha(q))

No data available for DME Specific Peptides for GNAQ Gene

Domains for GNAQ Gene

Suggested Antigen Peptide Sequences for GNAQ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P50148
  • Belongs to the G-alpha family. G(q) subfamily.
genes like me logo Genes that share domains with GNAQ: view

No data available for Gene Families for GNAQ Gene

Function for GNAQ Gene

Molecular function for GNAQ Gene

GENATLAS Biochemistry:
guanine nucleotide binding protein (G protein) alpha q subunit,mediating pertussis toxin-resistant stimulation of phospholipase C beta,expressed at high levels in brain,also expressed in mature erythrocytes,interacting with components of the cell cytoskeleton,reduced expression in platelet signal transduction defect
UniProtKB/Swiss-Prot Function:
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity).

Gene Ontology (GO) - Molecular Function for GNAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IBA --
GO:0004871 signal transducer activity IBA --
GO:0005096 GTPase activator activity IDA 15611106
GO:0005515 protein binding IPI 18672896
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with GNAQ: view
genes like me logo Genes that share phenotypes with GNAQ: view

Animal Models for GNAQ Gene

MGI Knock Outs for GNAQ:

Animal Model Products

miRNA for GNAQ Gene

miRTarBase miRNAs that target GNAQ

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GNAQ Gene

Localization for GNAQ Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNAQ Gene

Nucleus. Membrane. Nucleus membrane. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for GNAQ Gene COMPARTMENTS Subcellular localization image for GNAQ gene
Compartment Confidence
cytosol 3
plasma membrane 3
cytoskeleton 2
extracellular 2
nucleus 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GNAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005737 cytoplasm TAS 9175863
GO:0005765 lysosomal membrane IDA 17897319
GO:0005834 heterotrimeric G-protein complex IBA --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with GNAQ: view

Pathways for GNAQ Gene

genes like me logo Genes that share pathways with GNAQ: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GNAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001508 action potential IBA --
GO:0006184 obsolete GTP catabolic process --
GO:0006469 negative regulation of protein kinase activity IMP 20399743
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with GNAQ: view

Compounds for GNAQ Gene

(5) Tocris Compounds for GNAQ Gene

Compound Action Cas Number
8-Bromo-cGMP, sodium salt cGMP analog; activates PKG [51116-01-9]
CCG 50014 Potent and selective inhibitor of regulator of G-protein signaling 4 (RGS4) protein [883050-24-6]
Gallein Inhibitor of betagamma signaling [2103-64-2]
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors [265980-25-4]

(4) HMDB Compounds for GNAQ Gene

Compound Synonyms Cas Number PubMed IDs
  • GUN
Guanosine diphosphate
  • 5'-GDP
Guanosine monophosphate
  • 5'-GMP
Guanosine triphosphate
  • 5'-GTP

(22) Novoseek inferred chemical compound relationships for GNAQ Gene

Compound -log(P) Hits PubMed IDs
gtp 48.7 7
thromboxane a2 42.7 6
carbachol 41.1 5
bisindolylmaleimide 40.3 1
pip2 35 3
genes like me logo Genes that share compounds with GNAQ: view

Transcripts for GNAQ Gene

mRNA/cDNA for GNAQ Gene

Unigene Clusters for GNAQ Gene

Guanine nucleotide binding protein (G protein), q polypeptide:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GNAQ

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GNAQ Gene

No ASD Table

Relevant External Links for GNAQ Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GNAQ Gene

mRNA expression in normal human tissues for GNAQ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for GNAQ Gene

This gene is overexpressed in Nasal epithelium (10.4), Platelet (9.2), Frontal cortex (7.5), and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GNAQ Gene

SOURCE GeneReport for Unigene cluster for GNAQ Gene Hs.269782

mRNA Expression by UniProt/SwissProt for GNAQ Gene

Tissue specificity: Predominantly expressed in ovary, prostate, testis and colon. Down-regulated in the peripheral blood lymphocytes (PBLs) of rheumatoid arthritis patients (at protein level).
genes like me logo Genes that share expressions with GNAQ: view

Expression partners for GNAQ Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for GNAQ Gene

Orthologs for GNAQ Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GNAQ Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GNAQ 35
  • 95.73 (n)
  • 100 (a)
  • 100 (a)
(Canis familiaris)
Mammalia GNAQ 35
  • 96.46 (n)
  • 100 (a)
  • 98 (a)
(Mus musculus)
Mammalia Gnaq 35
  • 94.52 (n)
  • 99.72 (a)
Gnaq 16
Gnaq 36
  • 100 (a)
(Pan troglodytes)
Mammalia GNAQ 35
  • 99.89 (n)
  • 100 (a)
  • 95 (a)
(Rattus norvegicus)
Mammalia Gnaq 35
  • 93.41 (n)
  • 99.44 (a)
(Monodelphis domestica)
Mammalia GNAQ 36
  • 100 (a)
(Ornithorhynchus anatinus)
Mammalia GNAQ 36
  • 93 (a)
(Gallus gallus)
Aves GNAQ 35
  • 88.39 (n)
  • 98.61 (a)
  • 99 (a)
(Anolis carolinensis)
Reptilia GNAQ 36
  • 96 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gnaq 35
  • 83.01 (n)
  • 96.66 (a)
African clawed frog
(Xenopus laevis)
Amphibia gnaq-A 35
(Danio rerio)
Actinopterygii gnaq 35
  • 79.67 (n)
  • 92.76 (a)
gnaq 36
  • 93 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17760 37
  • 53 (a)
Galpha49B 37
  • 77 (a)
Galpha73B 37
  • 35 (a)
CG17760 36
  • 63 (a)
CG30054 36
  • 69 (a)
Galpha49B 36
  • 74 (a)
(Caenorhabditis elegans)
Secernentea gpa-1 37
  • 42 (a)
gpa-10 37
  • 34 (a)
gpa-11 37
  • 37 (a)
gpa-14 37
  • 32 (a)
gpa-15 37
  • 40 (a)
gpa-2 37
  • 40 (a)
gpa-5 37
  • 31 (a)
gpa-6 37
  • 38 (a)
gpa-8 37
  • 39 (a)
gpa-9 37
  • 34 (a)
odr-3 37
  • 45 (a)
egl-30 36
  • 83 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA2 36
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11283 36
  • 75 (a)
Species with no ortholog for GNAQ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GNAQ Gene

Gene Tree for GNAQ (if available)
Gene Tree for GNAQ (if available)

Paralogs for GNAQ Gene

Paralogs for GNAQ Gene Pseudogenes for GNAQ Gene

genes like me logo Genes that share paralogs with GNAQ: view

Variants for GNAQ Gene

Sequence variations from dbSNP and Humsavar for GNAQ Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs2612 -- 77,834,602(+) TGCAA(A/G)CTTTA intron-variant
rs14652 -- 77,717,865(+) TTTAT(A/G)TGGAA utr-variant-3-prime
rs713173 -- 77,850,512(-) CATTC(C/T)ATCAC intron-variant
rs733408 -- 77,880,241(+) AGAAA(C/T)ATGTC intron-variant
rs749570 -- 77,897,943(+) CCTGG(A/G)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GNAQ Gene

Variant ID Type Subtype PubMed ID
esv271313 CNV Insertion 20981092
nsv893489 CNV Gain 21882294
dgv8253n71 CNV Loss 21882294
esv2738612 CNV Deletion 23290073
nsv893491 CNV Loss 21882294
nsv6574 CNV Loss 18451855
nsv416999 CNV Loss 16902084
esv1620907 CNV Insertion 17803354
esv1370714 CNV Insertion 17803354
esv2738613 CNV Deletion 23290073
esv2662215 CNV Deletion 23128226
nsv507519 CNV Insertion 20534489
nsv526255 CNV Loss 19592680
nsv831630 CNV Loss 17160897
esv24162 CNV Loss 19812545

Relevant External Links for GNAQ Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNAQ Gene

Disorders for GNAQ Gene

(2) OMIM Diseases for GNAQ Gene (600998)


  • Capillary malformations, congenital (CMC) [MIM:163000]: A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity. {ECO:0000269 PubMed:23656586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Sturge-Weber syndrome (SWS) [MIM:185300]: A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes. {ECO:0000269 PubMed:23656586}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for GNAQ Gene

(6) Novoseek inferred disease relationships for GNAQ Gene

Disease -log(P) Hits PubMed IDs
erythroleukemia 48.8 2
cardiac hypertrophy 25.9 2
carcinoid 7.5 1
hypertrophy 6.47 2
heart failure congestive 0 1

Relevant External Links for GNAQ

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with GNAQ: view

No data available for Genatlas for GNAQ Gene

Publications for GNAQ Gene

  1. Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50). (PMID: 12193606) Rochdi M.D. … Parent J.-L. (J. Biol. Chem. 2002) 3 4 23
  2. A functional polymorphism of the Galphaq (GNAQ) gene is associated with accelerated mortality in African-American heart failure. (PMID: 17720980) Liggett S.B. … Dorn G.W. (Hum. Mol. Genet. 2007) 3 23 48
  3. Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene. (PMID: 8825633) Dong Q. … Battey J. (Genomics 1995) 2 3 4
  4. Specificity of G alpha q and G alpha 11 gene expression in platelets and erythrocytes. Expressions of cellular differentiation and species differences. (PMID: 8836152) Johnson G.J. … Dunlop P.C. (Biochem. J. 1996) 3 4
  5. Regulation of G protein-coupled receptor activities by the platelet- endothelial cell adhesion molecule, PECAM-1. (PMID: 18672896) Yeh J.C. … Frangos J.A. (Biochemistry 2008) 3 4

Products for GNAQ Gene

  • Addgene plasmids for GNAQ

Sources for GNAQ Gene

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