Human Gene GNAQ (ENST00000286548.9_7) from GENCODE V47lift37
  Description: G protein subunit alpha q (from RefSeq NM_002072.5)
Gencode Transcript: ENST00000286548.9_7
Gencode Gene: ENSG00000156052.11_11
Transcript (Including UTRs)
   Position: hg19 chr9:80,331,013-80,646,727 Size: 315,715 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr9:80,336,239-80,646,151 Size: 309,913 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:80,331,013-80,646,727)mRNA (may differ from genome)Protein (359 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GNAQ_HUMAN
DESCRIPTION: RecName: Full=Guanine nucleotide-binding protein G(q) subunit alpha; AltName: Full=Guanine nucleotide-binding protein alpha-q;
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).
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.
INTERACTION: P10276:RARA; NbExp=4; IntAct=EBI-3909604, EBI-413374;
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).
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).
SIMILARITY: Belongs to the G-alpha family. G(q) subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GNAQ
Diseases sorted by gene-association score: sturge-weber syndrome, somatic, mosaic* (1650), capillary malformations, congenital, 1, somatic, mosaic* (1250), uveal melanoma* (478), phakomatosis cesioflammea* (350), melanoma* (169), pertussis (23), weber syndrome (22), central nervous system melanocytic neoplasm (17), malignant conjunctival melanoma (15), melanomatosis (15), mucosal melanoma (13), angiomatosis (13), meningeal melanomatosis (11), meningeal melanocytoma (9), mongolian spot (9), conjunctival cancer (6), sensory system cancer (5), ocular cancer (4), nervous system cancer (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D000535 Aluminum
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C561454 2,4-difluoro-N-(2-(methyloxy)-5-(4-(4-pyridazinyl)-6-quinolinyl)-3-pyridinyl)benzenesulfonamide
  • C029955 2-nitrotoluene
  • C027576 4-hydroxy-2-nonenal
  • C012606 4-vinyl-1-cyclohexene dioxide
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D016604 Aflatoxin B1
  • D000643 Ammonium Chloride
  • D001564 Benzo(a)pyrene
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.88 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 747.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -368.20576-0.639 Picture PostScript Text
3' UTR -1223.875226-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000654 - Gprotein_alpha_Q
IPR001019 - Gprotein_alpha_su
IPR011025 - GproteinA_insert

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00503 - G-protein alpha subunit

SCOP Domains:
47895 - Transducin (alpha subunit), insertion domain
52540 - P-loop containing nucleoside triphosphate hydrolases
56281 - Metallo-hydrolase/oxidoreductase
55486 - Metalloproteases ("zincins"), catalytic domain

ModBase Predicted Comparative 3D Structure on P50148
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0019001 guanyl nucleotide binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0031826 type 2A serotonin receptor binding
GO:0046872 metal ion binding

Biological Process:
GO:0001501 skeletal system development
GO:0001508 action potential
GO:0006469 negative regulation of protein kinase activity
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G-protein coupled receptor signaling pathway
GO:0007202 activation of phospholipase C activity
GO:0007213 G-protein coupled acetylcholine receptor signaling pathway
GO:0007215 glutamate receptor signaling pathway
GO:0007507 heart development
GO:0007596 blood coagulation
GO:0007603 phototransduction, visible light
GO:0009649 entrainment of circadian clock
GO:0009791 post-embryonic development
GO:0016322 neuron remodeling
GO:0021884 forebrain neuron development
GO:0030168 platelet activation
GO:0042711 maternal behavior
GO:0042733 embryonic digit morphogenesis
GO:0043547 positive regulation of GTPase activity
GO:0045634 regulation of melanocyte differentiation
GO:0048066 developmental pigmentation
GO:0050821 protein stabilization
GO:0060158 phospholipase C-activating dopamine receptor signaling pathway
GO:0060828 regulation of canonical Wnt signaling pathway

Cellular Component:
GO:0001750 photoreceptor outer segment
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030425 dendrite
GO:0031965 nuclear membrane
GO:0044297 cell body
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  U40038 - Human GTP-binding protein alpha q subunit (GNAQ) mRNA, complete cds.
BC057777 - Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide, mRNA (cDNA clone MGC:71577 IMAGE:30337698), complete cds.
BC067850 - Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide, mRNA (cDNA clone MGC:87452 IMAGE:30348883), complete cds.
GQ891431 - Homo sapiens clone HEL-S-152 epididymis secretory sperm binding protein mRNA, complete cds.
AK298579 - Homo sapiens cDNA FLJ50831 complete cds, highly similar to Guanine nucleotide-binding protein G(q) subunit alpha.
U43083 - Human G alpha-q (Gaq) mRNA, complete cds.
BC069520 - Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide, mRNA (cDNA clone MGC:97107 IMAGE:7262332), complete cds.
BC075097 - Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide, mRNA (cDNA clone MGC:103986 IMAGE:30915394), complete cds.
BC075096 - Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide, mRNA (cDNA clone MGC:104147 IMAGE:30915606), complete cds.
AF011496 - Homo sapiens GTP-binding protein alpha q (GQ) mRNA, complete cds.
AF329284 - Homo sapiens G alpha q protein mRNA, complete cds.
AF493896 - Homo sapiens guanine nucleotide binding protein alpha q (GNAQ) mRNA, complete cds.
JN184778 - Homo sapiens guanine nucleotide binding protein (GNAQ) mRNA, complete cds.
AM392842 - Synthetic construct Homo sapiens clone IMAGE:100002959 for hypothetical protein (GNAQ gene).
AM393393 - Synthetic construct Homo sapiens clone IMAGE:100002961 for hypothetical protein (GNAQ gene).
AM393764 - Synthetic construct Homo sapiens clone IMAGE:100002960 for hypothetical protein (GNAQ gene).
AB463062 - Synthetic construct DNA, clone: pF1KB8436, Homo sapiens GNAQ gene for guanine nucleotide binding protein (G protein), q polypeptide, without stop codon, in Flexi system.
L76256 - Homo sapiens G alpha q mRNA, 5' end of cds.
CU691228 - Synthetic construct Homo sapiens gateway clone IMAGE:100020872 5' read GNAQ mRNA.
AK055619 - Homo sapiens cDNA FLJ31057 fis, clone HSYRA2000787.
BC047048 - Homo sapiens cDNA clone IMAGE:5289004.
AJ420425 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 1693170.
AL832747 - Homo sapiens mRNA; cDNA DKFZp686D0521 (from clone DKFZp686D0521).
AB073896 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla03199, full insert sequence.
JD044074 - Sequence 25098 from Patent EP1572962.
JD516888 - Sequence 497912 from Patent EP1572962.
JD444052 - Sequence 425076 from Patent EP1572962.
JD049558 - Sequence 30582 from Patent EP1572962.
L40629 - Homo sapiens (clones T1, T3, T8) GTP-binding protein alpha subunit (GAQ) mRNA, partial cds.
JD535584 - Sequence 516608 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_At1rPathway - Angiotensin II mediated activation of JNK Pathway via Pyk2 dependent signaling
h_calcineurinPathway - Effects of calcineurin in Keratinocyte Differentiation
h_Ccr5Pathway - Pertussis toxin-insensitive CCR5 Signaling in Macrophage
h_Par1Pathway - Thrombin signaling and protease-activated receptors
h_myosinPathway - PKC-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase
h_pyk2Pathway - Links between Pyk2 and Map Kinases
h_tubbyPathway - G-Protein Signaling Through Tubby Proteins
h_pkcPathway - Activation of PKC through G protein coupled receptor
h_CCR3Pathway - CCR3 signaling in Eosinophils
h_cxcr4Pathway - CXCR4 Signaling Pathway
h_gpcrPathway - Signaling Pathway from G-Protein Families
h_vipPathway - Neuropeptides VIP and PACAP inhibit the apoptosis of activated T cells

Reactome (by CSHL, EBI, and GO)

Protein P50148 (Reactome details) participates in the following event(s):

R-HSA-398188 PLC beta is activated by G alpha (q)
R-HSA-400586 G alpha (q) binds to Trio family RhoGEFs
R-HSA-416358 G alpha (q) inhibits PI3K alpha
R-HSA-416510 GRK5 sequesters activated Gq
R-HSA-416516 GRK2 sequesters activated Gq
R-HSA-418582 G alpha (q) auto-inactivates by hydrolysing GTP to GDP
R-HSA-397835 Dissociation of the PAR:Gq complex
R-HSA-418576 Dissociation of the P2Y purinoceptor 1:Gq complex
R-HSA-428752 Dissociation of the TP:Gq complex
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-750993 Inactive G alpha (q) reassociates with G beta:gamma
R-HSA-400023 Gq alpha activates Phospholipase C beta
R-HSA-400027 Gq alpha:G beta:G gamma dissociates to Gq alpha:GTP and G beta:G gamma
R-HSA-396996 Thrombin-activated PAR binds G-protein Gq
R-HSA-418581 Activated P2Y purinoceptor 1 binds G-protein Gq
R-HSA-428749 Activated TP receptor binds G-proten Gq
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-399995 Muscarinic Acetylcholine Receptor M3 activates Gq
R-HSA-416530 GPR40:fatty acid activates Gq
R-HSA-114558 Gq activation by PAR
R-HSA-418579 Gq activation by P2Y purinoceptor 1
R-HSA-428750 Gq activation by TP receptor
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-114688 PLC-beta hydrolyses PIP2 to DAG and IP3
R-HSA-399998 Activated Phospholipase C beta-1 hydrolyzes 1-Phosphatidyl-D-myo-inositol 4,5-bisphosphate
R-HSA-416476 G alpha (q) signalling events
R-HSA-456926 Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-418592 ADP signalling through P2Y purinoceptor 1
R-HSA-428930 Thromboxane signalling through TP receptor
R-HSA-399997 Acetylcholine regulates insulin secretion
R-HSA-434316 Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion
R-HSA-388396 GPCR downstream signalling
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-392518 Signal amplification
R-HSA-422356 Regulation of insulin secretion
R-HSA-400451 Free fatty acids regulate insulin secretion
R-HSA-372790 Signaling by GPCR
R-HSA-109582 Hemostasis
R-HSA-163685 Energy Metabolism
R-HSA-162582 Signal Transduction
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000286548.1, ENST00000286548.2, ENST00000286548.3, ENST00000286548.4, ENST00000286548.5, ENST00000286548.6, ENST00000286548.7, ENST00000286548.8, GAQ, GNAQ_HUMAN, NM_002072, O15108, P50148, Q13462, Q6NT27, Q92471, Q9BZB9, uc317kkk.1, uc317kkk.2
UCSC ID: ENST00000286548.9_7
RefSeq Accession: NM_002072.5
Protein: P50148 (aka GNAQ_HUMAN or GBQ_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.