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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

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 weber syndrome 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

Genomic Location for GNAQ Gene

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

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

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys16 and Lys102

Other Protein References for GNAQ Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GNAQ Gene

Domains for GNAQ Gene

UniProtKB/Swiss-Prot:

GNAQ_HUMAN
Family:
  • Belongs to the G-alpha family. G(q) subfamily.:
    • P50148
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:

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

COMPARTMENTS
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

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]
Gallein Inhibitor of betagamma signaling [2103-64-2]
G-Protein antagonist peptide Inhibits G protein activation by GPCRs [143675-79-0]
Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]
Suramin hexasodium salt Non-selective P2 antagonist [129-46-4]

(4) HMDB Compounds for GNAQ Gene

Compound Synonyms Cas Number PubMed IDs
Guanine
  • GUN
73-40-5
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1

(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:

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

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

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 expressions with GNAQ: view

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
chimpanzee
(Pan troglodytes)
Mammalia GNAQ 36
  • 99.89 (n)
  • 100 (a)
GNAQ 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNAQ 36
  • 95.73 (n)
  • 100 (a)
GNAQ 37
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNAQ 36
  • 96.46 (n)
  • 100 (a)
GNAQ 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnaq 36
  • 94.52 (n)
  • 99.72 (a)
Gnaq 16
Gnaq 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNAQ 37
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNAQ 37
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnaq 36
  • 93.41 (n)
  • 99.44 (a)
chicken
(Gallus gallus)
Aves GNAQ 36
  • 88.39 (n)
  • 98.61 (a)
GNAQ 37
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNAQ 37
  • 96 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gnaq-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gnaq 36
  • 83.01 (n)
  • 96.66 (a)
zebrafish
(Danio rerio)
Actinopterygii gnaq 36
  • 79.67 (n)
  • 92.76 (a)
gnaq 37
  • 93 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17760 37
  • 63 (a)
ManyToMany
CG30054 37
  • 69 (a)
ManyToMany
Galpha49B 37
  • 74 (a)
ManyToMany
Galpha73B 38
  • 35 (a)
Galpha49B 38
  • 77 (a)
CG17760 38
  • 53 (a)
worm
(Caenorhabditis elegans)
Secernentea egl-30 37
  • 83 (a)
OneToMany
odr-3 38
  • 45 (a)
gpa-14 38
  • 32 (a)
gpa-6 38
  • 38 (a)
gpa-10 38
  • 34 (a)
gpa-15 38
  • 40 (a)
gpa-8 38
  • 39 (a)
gpa-9 38
  • 34 (a)
gpa-1 38
  • 42 (a)
gpa-11 38
  • 37 (a)
gpa-2 38
  • 40 (a)
gpa-5 38
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPA2 37
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11283 37
  • 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 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
GNAQ
Human Gene Mutation Database (HGMD)
GNAQ

Disorders for GNAQ Gene

(2) OMIM Diseases for GNAQ Gene (600998)

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.

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

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 49
  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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