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Aliases for GNAQ Gene

Aliases for GNAQ Gene

  • G Protein Subunit Alpha Q 2 3
  • Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide 2 3 5
  • Guanine Nucleotide-Binding Protein Alpha-Q 3 4
  • GAQ 3 4
  • G-ALPHA-Q 3
  • CMC1 3
  • SWS 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 (G Protein Subunit Alpha Q) 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 Platelet activation, signaling and aggregation and Signaling by GPCR. GO annotations related to this gene include GTP binding and signal transducer 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 binding causes a receptor conformational change, detaching the G protein and switching it 'on'.

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

Promoters for GNAQ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GNAQ on UCSC Golden Path with GeneCards custom track

Genomic Location for GNAQ Gene

Chromosome:
9
Start:
77,716,087 bp from pter
End:
78,031,458 bp from pter
Size:
315,372 bases
Orientation:
Minus strand

Genomic View for GNAQ Gene

Genes around GNAQ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNAQ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P50148-GNAQ_HUMAN
    Recommended name:
    Guanine nucleotide-binding protein G(q) subunit alpha
    Protein Accession:
    P50148
    Secondary Accessions:
    • O15108
    • Q13462
    • Q6NT27
    • Q92471
    • Q9BZB9

    Protein attributes for GNAQ Gene

    Size:
    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

  • (Microbial infection) Deamidated at Gln-209 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA.
  • Ubiquitination at Lys 16 and Lys 102
  • Modification sites at PhosphoSitePlus

Other Protein References for GNAQ Gene

ENSEMBL proteins:
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 & Families for GNAQ Gene

Suggested Antigen Peptide Sequences for GNAQ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P50148

UniProtKB/Swiss-Prot:

GNAQ_HUMAN :
  • Belongs to the G-alpha family. G(q) subfamily.
Family:
  • 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: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

Human Phenotype Ontology for GNAQ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNAQ Gene

MGI Knock Outs for GNAQ:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for GNAQ Gene COMPARTMENTS Subcellular localization image for GNAQ gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytosol 4
nucleus 4
cytoskeleton 3
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GNAQ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IDA 17897319
GO:0030425 dendrite IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GNAQ: view

Pathways & Interactions for GNAQ Gene

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

SIGNOR curated interactions for GNAQ Gene

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 IEA,IBA --
GO:0006469 negative regulation of protein kinase activity IMP 20399743
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with GNAQ: view

Drugs & Compounds for GNAQ Gene

(12) Drugs for GNAQ Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanine Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(19) Additional Compounds for GNAQ Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[D-Trp7,9,10]-Substance P
89430-38-6
mastoparan
72093-21-1
Mastoparan X
72093-22-2
NF 023
104869-31-0
SCH 202676 hydrobromide
265980-25-4

(5) Tocris Compounds for GNAQ Gene

Compound Action Cas Number
[D-Trp7,9,10]-Substance P Inhibits M1 ACh receptor activation of Gq/11 89430-38-6
Mastoparan Activates Gi and Go 72093-21-1
Mastoparan X G protein activator peptide 72093-22-2
NF 023 Selective, competitive P2X1 antagonist 104869-31-0
SCH 202676 hydrobromide Inhibitor of ligand binding to G-protein-coupled receptors 265980-25-4
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:

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

No ASD Table

Relevant External Links for GNAQ Gene

GeneLoc Exon Structure for
GNAQ
ECgene alternative splicing isoforms for
GNAQ

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 from HIPED 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 in normal tissues and cell lines 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

P50148-GNAQ_HUMAN
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 expression patterns with GNAQ: view

Protein tissue co-expression partners for GNAQ Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia GNAQ 35
  • 95.73 (n)
  • 100 (a)
GNAQ 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAQ 35
  • 96.46 (n)
  • 100 (a)
GNAQ 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnaq 35
  • 94.52 (n)
  • 99.72 (a)
Gnaq 16
Gnaq 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNAQ 35
  • 99.89 (n)
  • 100 (a)
GNAQ 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnaq 35
  • 93.41 (n)
  • 99.44 (a)
oppossum
(Monodelphis domestica)
Mammalia GNAQ 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNAQ 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNAQ 35
  • 88.39 (n)
  • 98.61 (a)
GNAQ 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNAQ 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnaq 35
  • 83.01 (n)
  • 96.66 (a)
African clawed frog
(Xenopus laevis)
Amphibia gnaq-A 35
zebrafish
(Danio rerio)
Actinopterygii gnaq 35
  • 79.67 (n)
  • 92.76 (a)
gnaq 36
  • 93 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17760 37
  • 53 (a)
Galpha49B 37
  • 77 (a)
Galpha73B 37
  • 35 (a)
CG17760 36
  • 63 (a)
ManyToMany
CG30054 36
  • 69 (a)
ManyToMany
Galpha49B 36
  • 74 (a)
ManyToMany
worm
(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)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA2 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11283 36
  • 75 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GNAQ (if available)
TreeFam:
Gene Tree for GNAQ (if available)

Paralogs for GNAQ Gene

Paralogs for GNAQ Gene

Pseudogenes.org 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
rs1059531 - 77,721,338(-) AAGGA(G/T)TACAA reference, missense
VAR_067270 Sturge-Weber syndrome (SWS)
VAR_067271 -
rs2612 -- 77,834,602(+) TGCAA(A/G)CTTTA intron-variant
rs14652 -- 77,717,865(+) TTTAT(A/G)TGGAA utr-variant-3-prime

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

Variation tolerance for GNAQ Gene

Residual Variation Intolerance Score: 31.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNAQ Gene

HapMap Linkage Disequilibrium report
GNAQ
Human Gene Mutation Database (HGMD)
GNAQ

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

Disorders for GNAQ Gene

MalaCards: The human disease database

(12) MalaCards diseases for GNAQ Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sturge-weber syndrome, somatic, mosaic
  • sturge-weber syndrome
capillary malformations, congenital, 1, somatic, mosaic
  • strawberry nevus of skin
uveal melanoma
  • melanoma of uvea
weber syndrome
  • midbrain stroke syndromes
angiomatosis
- elite association - COSMIC cancer census association via MalaCards
Search GNAQ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GNAQ_HUMAN
  • 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.

Relevant External Links for GNAQ

Genetic Association Database (GAD)
GNAQ
Human Genome Epidemiology (HuGE) Navigator
GNAQ
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNAQ
genes like me logo Genes that share disorders with GNAQ: view

No data available for Genatlas for GNAQ Gene

Publications for GNAQ Gene

  1. 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 67
  2. Differential regulation of phospholipase C-beta2 activity and membrane interaction by Galphaq, Gbeta1gamma2, and Rac2. (PMID: 20007712) Gutman O. … Henis Y.I. (J. Biol. Chem. 2010) 3 23
  3. Regulation of GSK-3beta and beta-Catenin by Galphaq in HEK293T cells. (PMID: 20399743) Salmanian S. … Minaei T. (Biochem. Biophys. Res. Commun. 2010) 3 23
  4. Interplay between the heterotrimeric G-protein subunits Galphaq and Galphai2 sets the threshold for chemotaxis and TCR activation. (PMID: 19426503) Ngai J. … TaskAcn K. (BMC Immunol. 2009) 3 23
  5. IGF-II/mannose-6-phosphate receptor signaling induced cell hypertrophy and atrial natriuretic peptide/BNP expression via Galphaq interaction and protein kinase C-alpha/CaMKII activation in H9c2 cardiomyoblast cells. (PMID: 18434368) Chu C.H. … Huang C.Y. (J. Endocrinol. 2008) 3 23

Products for GNAQ Gene

Sources for GNAQ Gene

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