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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GNAQ Gene

protein-coding   GIFtS: 67
GCID: GC09M080331

Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide1 2     G-ALPHA-q2
Guanine Nucleotide-Binding Protein Alpha-Q2 3     SWS2
GAQ2 3     Guanine Nucleotide-Binding Protein G(Q) Subunit Alpha2
CMC12     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 chorea-acanthocytosis, and acanthocytosis, and among its related super-pathways are Development Endothelin-1/EDNRA transactivation of EGFR and Parkinson's disease. GO annotations related to this gene include GTP binding and signal transducer 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GNAQ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50148

  • GNAQ Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GNAQ Protein Expression
    REFSEQ proteins: NP_002063.2  
    ENSEMBL proteins: 
     ENSP00000286548   ENSP00000391501   ENSP00000443197  
    Reactome Protein details: P50148
    Human Recombinant Protein Products for GNAQ: 
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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 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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 ----

    GNAQ for ontologies           About GeneDecksing



    GNAQ Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for GNAQ 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    GNAQ for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/9 molecular function terms (GO ID links to tree view) (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
         
    GNAQ for ontologies           About GeneDecksing


    Phenotypes:
         15/19 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Gnaq) (see all 19):
     behavior/neurological  cardiovascular system  craniofacial  endocrine/exocrine gland  growth/size 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     limbs/digits/tail  mortality/aging  muscle  nervous system  normal 

    GNAQ for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GNAQ 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    SwitchGear 3'UTR luciferase reporter plasmidGNAQ 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAQ


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GNAQ About   (see all 49)                                                                                              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
    Estrogen signaling pathway0.34
    Cytoskeleton remodeling FAK signaling0.41
    2Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.47
    Alzheimers Disease0.44
    Alzheimer's disease0.46
    3Circadian entrainment
    Retrograde endocannabinoid signaling0.51
    Dopaminergic synapse0.37
    Circadian entrainment0.40
    Cholinergic synapse0.37
    Glutamatergic synapse0.39
    Serotonergic synapse0.33
    4Development 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
    5Thromboxane signalling through TP receptor
    ADP signalling through P2Y purinoceptor 10.78
    Thromboxane signalling through TP receptor0.78
    Signal amplification0.78
    Thrombin signalling through proteinase activated receptors (PARs)0.67

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/21 EMD Millipore Pathways for GNAQ (see all 21)
        Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Transcription Transcription factor Tubby signaling pathways
    Translation Translation regulation by Alpha-1 adrenergic receptors
    Development Activation of ERK by Alpha-1 adrenergic receptors
    Cytoskeleton remodeling FAK signaling


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

    5/22 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

    5/12 BioSystems Pathways for GNAQ (see all 12)
        Myometrial Relaxation and Contraction Pathways
    G Protein Signaling Pathways
    Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
    Calcium Regulation in the Cardiac Cell
    TSH signaling pathway

    5/17        Reactome Pathways for GNAQ (see all 17)
        Hemostasis
    GPCR downstream signaling
    Gastrin-CREB signalling pathway via PKC and MAPK
    Metabolism
    Regulation of Insulin Secretion by Fatty Acids Bound to GPR40 (FFAR1)

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

    5/25         Kegg Pathways  (Kegg details for GNAQ) (see all 25):
        Calcium signaling pathway
    Vascular smooth muscle contraction
    Gap junction
    Circadian entrainment
    Long-term potentiation


    GNAQ for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GNAQ

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

    5/155 Interacting proteins for GNAQ (P501481, 2, 3 ENSP000002865484) via UniProtKB, MINT, STRING, and/or I2D (see all 155)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGTR1P305562, 3, ENSP000002734304MINT-4791922 I2D: score=1 STRING: ENSP00000273430
    ARRB1P494072, 3MINT-8408601 MINT-8408621 I2D: score=1 
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8202094 I2D: score=1 STRING: ENSP00000250416
    CXCR5P323022, 3, ENSP000002921744MINT-50705 I2D: score=1 STRING: ENSP00000292174
    BTKQ061873, ENSP000003081764I2D: score=3 STRING: ENSP00000308176
    About this table

    Gene Ontology (GO): 5/22 biological process terms (GO ID links to tree view) (see all 22):    About this table

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

    GNAQ for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GNAQ for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for GNAQ

    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--

    10/22 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)

    Search CenterWatch for drugs/clinical trials and news about GNAQ

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAQ
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      QIAGEN 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 

    24/416 AceView cDNA sequences (see all 416):

    AI167503 BE856684 AI032199 AI285293 AI480320 BQ009714 H88327 AW665760 
    BF109469 BU184555 AI421129 AA687833 CB243775 AI707842 BU160744 F03479 
    AI188917 N26741 BM663324 AL121115 AA393226 BM479765 BM930915 BM684429 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See GNAQ Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GNAQ

    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)

        SABiosciences Expression via Pathway-Focused 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

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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)
    About This Section

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

    Orthologs for GNAQ gene from 8/16 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
    Uncharacterized protein
    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 Galpha49B1 , 3 phospholipase C activation
    heterotrimeric G-protein more3
    G protein alpha49B1
    77(a)
    (best of 3)3
    70.54(n)1
    84.99(a)1
      49B83
    363841  NM_165925.21  NP_725197.21 
    worm
    (Caenorhabditis elegans)
    Secernentea odr-33
    egl-301
    guanine nucleotide-binding protein3
    Protein EGL-301
    45(a)
    (best of 11)3
    68.56(n)1
    83(a)1
      V(13249483-13252134)3
    1717511  NM_170806.31  NP_740789.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPA16
    GTP-binding alpha subunit of the heterotrimeric G ...
    31(a)
    1 → many
    VIII(113499-114917)


    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)
    About This Section
    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    GNAS    GSA    WUGSC

    GNAQ for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5640 SNPs in GNAQ are shown (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
    ----------
    rs1219134921,2
    Cuntested180291758(-) GGGCCA/C/TAAGGT 3 Q P L mis10--------
    rs2074702851,2
    Cuntested180420327(+) AAATGC/TGGCAT 1 -- int10--------
    VAR_0672714
    ----see VAR_0672712 Q L mis40--------
    VAR_0672704
    ----see VAR_0672702 R Q mis40--------
    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

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 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
    5/6 SABiosciences Cancer Mutation PCR Assays for GNAQ (see all 6):
    Cosmic IdAA Change
    28759p.Q209L
    13666p.V359I
    52975p.R183Q
    28758p.Q209P
    28414p.N266fs*4
    5/7 SABiosciences Cancer Mutation PCR Arrays 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600998    OMIM disorders: --

    20/29 diseases for GNAQ (see all 29):    About MalaCards
    chorea-acanthocytosis    acanthocytosis    gitelman syndrome    chorea
    fainting    trypanosomiasis    chagas disease    vasculitis
    polycystic ovary syndrome    pertussis    thrombosis    thyroid cancer
    huntington's disease    insulin resistance    melanoma    thyroiditis
    obesity    hypertension    rheumatoid arthritis    arthritis

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

    GNAQ for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for GNAQ gene, integrated from 9 sources (see all 289):
    (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. (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. (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. (2007)
    4. GNAQ and GNA11 mutations in melanocytomas of the central nervous system. (PubMed id 22307269)1, 2 Murali R.... Bastian B.C. (2012)
    5. A functional GNAQ promoter haplotype is associated wi th 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. (2010)
    6. Mutations in GNA11 in uveal melanoma. (PubMed id 21083380)1, 4 Van Raamsdonk C.D....Bastian B.C. (2010)
    7. Lack of oncogenic GNAQ mutations in melanocytic lesio ns of the conjunctiva as compared to uveal melanoma. (PubMed id 20631239)1, 4 Dratviman-Storobinsky O....Goldenberg-Cohen N. (2010)
    8. Oncogenic GNAQ mutations are not correlated with dise ase-free survival in uveal melanoma. (PubMed id 19654573)1, 4 Bauer J....de Klein A. (2009)
    9. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. (PubMed id 19078957)1, 2 Van Raamsdonk C.D....Bastian B.C. (2009)
    10. Somatic mutation of GNAQ gene is rare in common solid cancers and leukemias. (PubMed id 19551532)1, 4 Eom H.S....Lee S.H. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2776 HGNC: 4390 AceView: GNAQ Ensembl:ENSG00000156052 euGenes: HUgn2776
    ECgene: GNAQ Kegg: 2776 H-InvDB: GNAQ

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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