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GNAQ Gene

protein-coding   GIFtS: 69
GCID: GC09M080331

Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide

  See GNAQ-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide1 2     SWS2 5
Guanine Nucleotide-Binding Protein Alpha-Q2 3     G-ALPHA-q2
GAQ2 3     Guanine Nucleotide-Binding Protein G(Q) Subunit Alpha2
CMC12 5     

External Ids:    HGNC: 43901   Entrez Gene: 27762   Ensembl: ENSG000001560527   OMIM: 6009985   UniProtKB: P501483   

Export aliases for GNAQ gene to outside databases

Previous GC identifers: GC09M071382 GC09M072192 GC09M073904 GC09M075792 GC09M077564 GC09M079520 GC09M050167


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and capillary malformations, congenital, 1, somatic, mosaic. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GNA11.

UniProtKB/Swiss-Prot: GNAQ_HUMAN, P50148
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the GNAQ gene promoter:
         SRF   c-Fos   AP-1   ATF-2   SRF (504 AA)   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGNAQ promoter sequence
   Search Chromatin IP Primers for GNAQ

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GNAQ


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21   Ensembl cytogenetic band:  9q21.2   HGNC cytogenetic band: 9q21

GNAQ Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNAQ gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M080331:  view genomic region     (about GC identifiers)

Start:
80,331,003 bp from pter      End:
80,646,374 bp from pter
Size:
315,372 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GNAQ_HUMAN, P50148 (See protein sequence)
Recommended Name: Guanine nucleotide-binding protein G(q) subunit alpha  
Size: 359 amino acids; 42142 Da
Subunit: 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
Secondary accessions: O15108 Q13462 Q6NT27 Q92471 Q9BZB9

Explore the universe of human proteins at neXtProt for GNAQ: NX_P50148

Explore proteomics data for GNAQ at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys16, Lys102
  • Modification sites at PhosphoSitePlus

  • See GNAQ Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002063.2  
    ENSEMBL proteins: 
     ENSP00000286548   ENSP00000391501   ENSP00000443197  
    Reactome Protein details: P50148

    GNAQ Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals GNAQ Proteins
    Novus Biologicals GNAQ Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GNAQ

     
    Search eBioscience for Proteins for GNAQ 

    GNAQ Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Custom Antibody Services for GNAQ
    Novus Biologicals GNAQ Antibodies
    Abcam antibodies for GNAQ
    Cloud-Clone Corp. Antibodies for GNAQ
    ThermoFisher Antibody for GNAQ
    LSBio Antibodies in human, mouse, rat for GNAQ

    GNAQ Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for GNAQ
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GNAQ
    Cloud-Clone Corp. CLIAs for GNAQ
    Search eBioscience for ELISAs for GNAQ 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR001019 Gprotein_alpha_su
     IPR000654 Gprotein_alpha_Q
     IPR011025 GproteinA_insert
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry P50148

    ProtoNet protein and cluster: P50148

    2 Blocks protein domains:
    IPB000654 G-protein alpha subunit group Q signature
    IPB001019 Alpha G-protein (transducin) signature


    UniProtKB/Swiss-Prot: GNAQ_HUMAN, P50148
    Similarity: Belongs to the G-alpha family. G(q) subfamily


    Find genes that share domains with GNAQ           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GNAQ_HUMAN, P50148
    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)

         Genatlas biochemistry entry for GNAQ:
    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

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001664G-protein coupled receptor binding IBA--
    GO:0003924GTPase activity IEA--
    GO:0004871signal transducer activity IBA--
    GO:0005096GTPase activator activity IDA15611106
    GO:0005515protein binding IPI18672896
         
    Find genes that share ontologies with GNAQ           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Gnaq) (see all 19):
     behavior/neurological  cardiovascular system  craniofacial  endocrine/exocrine gland  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  normal 

    Find genes that share phenotypes with GNAQ           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GNAQ: Gnaqtm2.1Soff Gnaqtm1Soff

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GNAQ
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GNAQ

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GNAQ
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GNAQ

    miRNA
    Products:
        
    miRTarBase miRNAs that target GNAQ:
    hsa-mir-142-3p (MIRT021640), hsa-mir-128-3p (MIRT021961), hsa-mir-21-5p (MIRT030765)

    Block miRNA regulation of human, mouse, rat GNAQ using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GNAQ (see all 18):
    hsa-miR-142-3p hsa-miR-642a hsa-miR-3664-5p hsa-miR-1271 hsa-miR-624 hsa-miR-3138 hsa-miR-3692 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidGNAQ 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GNAQ
    Predesigned siRNA for gene silencing in human, mouse, rat GNAQ

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GNAQ

    Clone
    Products:
         
    OriGene clones in human, mouse for GNAQ (see all 6)
    OriGene ORF clones in mouse, rat for GNAQ
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GNAQ (NM_002072)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNAQ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAQ
    Addgene plasmids for GNAQ 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GNAQ
    Browse ESI BIO Cell Lines and PureStem Progenitors for GNAQ 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAQ


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GNAQ_HUMAN, P50148: Nucleus (By similarity). Membrane (By similarity). Nucleus membrane (By similarity).
    Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    plasma membrane3
    cytoskeleton2
    extracellular2
    nucleus2
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS9175863
    GO:0005765lysosomal membrane IDA17897319
    GO:0005834heterotrimeric G-protein complex IBA--
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----

    Find genes that share ontologies with GNAQ           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GNAQ About   (see all 53)  
    See pathways by source

    SuperPathContained pathways About
    1Development Endothelin 1 EDNRA signaling
    Development Endothelin 1 EDNRA signaling0.41
    GnRH signaling pathway0.38
    Development Endothelin 1 EDNRA transactivation of EGFR0.41
    Inflammatory mediator regulation of TRP channels0.37
    Cytoskeleton remodeling FAK signaling0.41
    Estrogen signaling pathway0.34
    2Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    3Development Angiotensin activation of ERK
    Development Angiotensin activation of ERK0.74
    Development EDNRB signaling0.54
    Development Angiotensin signaling via PYK20.67
    Cell adhesion Integrin inside out signaling0.44
    Development G Proteins mediated regulation MARK ERK signaling0.66
    Signal transduction IP3 signaling0.43
    4Circadian entrainment
    Retrograde endocannabinoid signaling0.51
    Dopaminergic synapse0.37
    Circadian entrainment0.40
    Cholinergic synapse0.37
    Glutamatergic synapse0.39
    Serotonergic synapse0.33
    5ADP signalling through P2Y purinoceptor 12
    Signal amplification0.79
    Thromboxane signalling through TP receptor0.79
    ADP signalling through P2Y purinoceptor 10.79
    Thrombin signalling through proteinase activated receptors (PARs)0.69


    Find genes that share SuperPaths with GNAQ           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for GNAQ
        Ca, cAMP and Lipid Signaling
    Neuroscience

    Selected GeneGo (Thomson Reuters) Pathways for GNAQ (see all 22)
        Development Endothelin-1/EDNRA transactivation of EGFR
    Development Endothelin-1/EDNRA signaling
    G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    Development Angiotensin signaling via PYK2
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

    Selected BioSystems Pathways for GNAQ (see all 14)
        Myometrial Relaxation and Contraction Pathways
    Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
    G Protein Signaling Pathways
    Calcium Regulation in the Cardiac Cell
    Serotonin Receptor 2 and STAT3 Signaling

    Selected Reactome Pathways for GNAQ (see all 6)
        Acetylcholine regulates insulin secretion
    Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
    ADP signalling through P2Y purinoceptor 1
    G alpha (q) signalling events
    Thromboxane signalling through TP receptor

    2 PharmGKB Pathways for GNAQ
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
    Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for GNAQ) (see all 29):
        Rap1 signaling pathway
    Calcium signaling pathway
    Adrenergic signaling in cardiomyocytes
    Vascular smooth muscle contraction
    Gap junction

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GNAQ: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              GABA & Glutamate in human mouse rat
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GNAQ

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GNAQ (P501481, 2, 3 ENSP000002865484) via UniProtKB, MINT, STRING, and/or I2D (see all 183)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGTR1P305562, 3, ENSP000002734304MINT-4791922 I2D: score=1 STRING: ENSP00000273430
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8202094 I2D: score=1 STRING: ENSP00000250416
    ARRB1P494071, 2, 3, ENSP000003771414EBI-3909604,EBI-743313 MINT-8408601 MINT-8408621 I2D: score=1 STRING: ENSP00000377141
    CXCR5P323022, 3, ENSP000002921744MINT-50705 I2D: score=1 STRING: ENSP00000292174
    BTKQ061873, ENSP000003081764I2D: score=3 STRING: ENSP00000308176
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0001508action potential IBA--
    GO:0006469negative regulation of protein kinase activity IMP--
    GO:0007165signal transduction ----
    GO:0007186G-protein coupled receptor signaling pathway ----

    Find genes that share ontologies with GNAQ           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for GNAQ
      Browse compounds at ApexBio 

    Compounds for GNAQ available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GalleinInhibitor of betagamma signaling[2103-64-2]
    Suramin hexasodium saltNon-selective P2 antagonist[129-46-4]
    G-Protein antagonist peptideInhibits G protein activation by GPCRs[143675-79-0]
    8-Bromo-cGMP, sodium salt cGMP analog; activates PKG[51116-01-9]
    Pertussis Toxin Catalyzes ADP-ribosylation of Gi, Go and Gt [70323-44-3]

    4 HMDB Compounds for GNAQ    About this table
    CompoundSynonyms CAS #PubMed Ids
    GuanineGUN (see all 26)73-40-5--
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    Selected Novoseek inferred chemical compound relationships for GNAQ gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 48.7 10 10391901 (2), 11880496 (1), 15914039 (1), 16871065 (1) (see all 6)
    thromboxane a2 42.7 8 9724809 (2), 10318854 (2), 15613029 (1), 12193606 (1)
    carbachol 41.1 5 11166329 (2), 20399743 (1), 15117940 (1), 9045709 (1)
    bisindolylmaleimide 40.3 1 12576304 (1)
    pip2 35 5 11880496 (2), 17068099 (1)
    inositol 1,4,5 trisphosphate 32.9 2 18948082 (1), 12897089 (1)
    phosphoinositide 32.7 2 12576304 (1), 10801799 (1)
    calcium 32.2 19 15794946 (2), 12716374 (2), 16081037 (2), 15613029 (1) (see all 13)
    baclofen 16.7 1 16120656 (1)
    adp 13 1 15613029 (1)



    Find genes that share compounds with GNAQ           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GNAQ gene: 
    NM_002072.4  

    Unigene Cluster for GNAQ:

    Guanine nucleotide binding protein (G protein), q polypeptide
    Hs.269782  [show with all ESTs]
    Unigene Representative Sequence: NM_002072
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286548(uc011lso.2 uc004akw.3) ENST00000411677 ENST00000397476

    miRNA
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    Block miRNA regulation of human, mouse, rat GNAQ using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GNAQ (see all 18):
    hsa-miR-142-3p hsa-miR-642a hsa-miR-3664-5p hsa-miR-1271 hsa-miR-624 hsa-miR-3138 hsa-miR-3692 hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidGNAQ 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for GNAQ
    Predesigned siRNA for gene silencing in human, mouse, rat GNAQ
    Clone
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    OriGene clones in human, mouse for GNAQ (see all 6)
    OriGene ORF clones in mouse, rat for GNAQ
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GNAQ (NM_002072)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNAQ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAQ
    Addgene plasmids for GNAQ 
    Primer
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    OriGene qPCR primer pairs and template standards for GNAQ
    OriGene qSTAR qPCR primer pairs in human, mouse for GNAQ
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GNAQ
      QuantiTect SYBR Green Assays in human, mouse, rat GNAQ
      QuantiFast Probe-based Assays in human, mouse, rat GNAQ

    Additional mRNA sequence: 

    AB073896.1 AF011496.1 AF329284.1 AF493896.1 AK129646.1 AK298579.1 AL832747.1 BC057777.1 
    BC067850.1 BC069520.1 BC075096.2 BC075097.2 JN184778.1 L40629.1 L76256.1 U40038.1 
    U43083.1 

    7 DOTS entries:

    DT.100823736  DT.97807333  DT.212477  DT.121167267  DT.91773032  DT.95229216  DT.120980752 

    Selected AceView cDNA sequences (see all 416):

    AA424963 BE856684 AW086026 BQ614285 BQ009714 AI032199 F03479 AI559448 
    AA883693 AI480320 AA618575 AI434212 AI707842 AL121115 CB053138 BM979946 
    AA026157 AI093589 CB243775 R65946 BG941607 CD644251 H88327 AI188917 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GNAQ expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAACCAACT
    GNAQ Expression
    About this image


    GNAQ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    GNAQ Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GNAQ Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.269782

    UniProtKB/Swiss-Prot: GNAQ_HUMAN, P50148
    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)

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GNAQ gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gnaq1 , 5 guanine nucleotide binding protein, alpha q polypeptide1, 5 94.52(n)1
    99.72(a)1
      19 (11.01 cM)5
    146821  NM_008139.51  NP_032165.31 
     161328315 
    chicken
    (Gallus gallus)
    Aves GNAQ1 guanine nucleotide binding protein (G protein), q polypeptide 88.39(n)
    98.61(a)
      427262  NM_001031427.1  NP_001026598.1 
    lizard
    (Anolis carolinensis)
    Reptilia GNAQ6
    guanine nucleotide binding protein (G protein), q ...
    96(a)
    1 ↔ 1
    2(45524594-45634546)
    African clawed frog
    (Xenopus laevis)
    Amphibia gnaq-A2 guanine nucleotide binding protein (G protein), q polypeptide 86.16(n)    L05540.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gnaq1 guanine nucleotide binding protein (G protein), q polypeptide 79.67(n)
    92.76(a)
      570108  NM_001144799.1  NP_001138271.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Galpha49B3 phospholipase C activation
    heterotrimeric G-protein more
    77(a)
    (best of 3)
      49B8   --
    worm
    (Caenorhabditis elegans)
    Secernentea odr-33 guanine nucleotide-binding protein 45(a)
    (best of 11)
      V(13249483-13252134)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPA26
    Nucleotide binding alpha subunit of the heterotrim...
    33(a)
    1 → many
    V(195168-196517) YER020W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GNAQ gene
    GNA112  GNA142  GNAI32  GNAT22  GNA132  GNAT32  GNAT12  GNA122  
    GNAI22  GNA152  GNAZ2  GNAO12  GNAI12  
    18 SIMAP similar genes for GNAQ using alignment to 6 protein entries:     GNAQ_HUMAN (see all proteins):
    GNA11    GNA14    GNA15    GNAI2    GNAT3    GNAL
    GNAI3    GNAI1    GNAT2    GNAT1    GNA13    GNAO1
    DKFZp686O0962    GNAZ    GNA12    GSA    GNAS    WUGSC

    Find genes that share paralogs with GNAQ           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GNAQ
    PGOHUM00000240327


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GNAQ (see all 5640)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0672704
    Sturge-Weber syndrome (SWS)4--see VAR_0672702 R Q mis40--------
    rs1219134921,2
    Cuntested180291758(-) GGGCCA/C/TAAGGT 3 Q P L mis10--------
    rs2074702851,2
    Cuntested180420327(+) AAATGC/TGGCAT 1 -- int10--------
    rs1429556191,2
    C--50173159(+) CTCGA-/GT    
       
    /GTGT
    GTGTG
    1 -- int10--------
    rs106831811,2
    C--50173175(+) GTGTG-/GG    
       
    /TGTG
    GCAGG
    1 -- int10--------
    rs1505638021,2
    C--50230110(+) TTTTG-/TTTTTT 1 -- int10--------
    rs107814631,2
    C,A--50246722(+) AAATTA/TAAAAA 1 -- int18Minor allele frequency- T:0.24NA WA CSA EA 367
    rs1384725481,2
    C--50264823(+) GTAAC-/AGAG  
            
    AGAAA
    1 -- int10--------
    rs105476811,2
    C--50264852(+) aaaaa-/A/AA  
            
    aaaaa
    1 -- int12NA 4
    rs669624931,2
    C--50282090(+) CCCCG-/TGATCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for GNAQ (80331003 - 80581003 bp, first 250kb of GNAQ)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for GNAQ (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662215CNV Deletion23128226
    esv2738613CNV Deletion23290073
    esv2738612CNV Deletion23290073
    esv271313CNV Insertion20981092
    esv1620907CNV Insertion17803354
    nsv507519CNV Insertion20534489
    esv1370714CNV Insertion17803354
    dgv8253n71CNV Loss21882294
    esv24162CNV Loss19812545
    nsv893491CNV Loss21882294

    Human Gene Mutation Database (HGMD): GNAQ
    Selected Site Specific Mutation Identification with PCR Assays for GNAQ (see all 6):
    Cosmic IdAA Change
    28759p.Q209L
    13666p.V359I
    52975p.R183Q
    28758p.Q209P
    28414p.N266fs*4
    Selected Site Specific Cancer Mutation PCR Panels containing GNAQ (see all 7):
    Tyrosine Kinases & Cell Signaling Pathways Panel 384HT
    Oncogene and Tumor Suppressor Panel 384HT
    Melanoma
    Cancer Comprehensive Panel 384HT
    Oncogene Panel 384HT
    SeqTarget long-range PCR primers for resequencing GNAQ
    DNA2.0 Custom Variant and Variant Library Synthesis for GNAQ

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600998   
    OMIM disorders: 185300  163000  
    UniProtKB/Swiss-Prot: GNAQ_HUMAN, P50148
  • 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.
    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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 5 diseases for GNAQ:    
    About MalaCards
    sturge-weber syndrome    capillary malformations, congenital, 1, somatic, mosaic    sturge-weber syndrome, somatic, mosaic    weber syndrome
    chorea-acanthocytosis

    1 disease from the University of Copenhagen DISEASES database for GNAQ:
    Melanoma

    Find genes that share disorders with GNAQ           About GenesLikeMe

    6 Novoseek inferred disease relationships for GNAQ gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 48.8 2 16995904 (1), 18989526 (1)
    cardiac hypertrophy 25.9 2 14605019 (1), 9223325 (1)
    carcinoid 7.5 1 11581306 (1)
    hypertrophy 6.47 3 12639992 (1), 18434368 (1)
    heart failure congestive 0 1 9223325 (1)
    heart failure 0 4 17720980 (2), 12639992 (1)

    Genetic Association Database (GAD): GNAQ
    Human Genome Epidemiology (HuGE) Navigator: GNAQ (8 documents)

    Export disorders for GNAQ gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GNAQ gene, integrated from 10 sources (see all 302):
    (articles sorted by number of sources associating them with GNAQ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of human G alpha q cDNA and chromosomal localization of the G alpha q gene (GNAQ) and a processed pseudogene. (PubMed id 8825633)1, 2, 3 Dong Q.... Battey J. (Genomics 1995)
    2. Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50). (PubMed id 12193606)1, 2, 9 Rochdi M.D....Parent J.-L. (J. Biol. Chem. 2002)
    3. A functional polymorphism of the Galphaq (GNAQ) gene is associated with accelerated mortality in African-American heart failure. (PubMed id 17720980)1, 4, 9 Liggett S.B....Dorn G.W. (Hum. Mol. Genet. 2007)
    4. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. (PubMed id 23656586)1, 2 Shirley M.D....Pevsner J. (N. Engl. J. Med. 2013)
    5. GNAQ and GNA11 mutations in melanocytomas of the central nervous system. (PubMed id 22307269)1, 2 Murali R.... Bastian B.C. (Acta Neuropathol. 2012)
    6. A functional GNAQ promoter haplotype is associated with altered Gq expression and with insulin resistance and obesity in women with polycystic ovary syndrome. (PubMed id 20562673)1, 4 Klenke S....Frey U.H. (Pharmacogenet. Genomics 2010)
    7. Mutations in GNA11 in uveal melanoma. (PubMed id 21083380)1, 4 Van Raamsdonk C.D....Bastian B.C. (N. Engl. J. Med. 2010)
    8. Lack of oncogenic GNAQ mutations in melanocytic lesions of the conjunctiva as compared to uveal melanoma. (PubMed id 20631239)1, 4 Dratviman-Storobinsky O....Goldenberg-Cohen N. (amp 2010)
    9. Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma. (PubMed id 19654573)1, 4 Bauer J....de Klein A. (Br. J. Cancer 2009)
    10. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. (PubMed id 19078957)1, 2 Van Raamsdonk C.D.... Bastian B.C. (Nature 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2776 HGNC: 4390 AceView: GNAQ Ensembl:ENSG00000156052 euGenes: HUgn2776
    ECgene: GNAQ Kegg: 2776 H-InvDB: GNAQ

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GNAQ Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for GNAQ Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GNAQ gene:
    Search GeneIP for patents involving GNAQ

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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