GNAQ
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| G protein subunit alpha q | MIM:600998 | Ensembl:ENSG00000156052 | HGNC:HGNC:4390 | PA174 | 9q21.2 |
GO terms in GNAQ
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0001750 | photoreceptor outer segment |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | HDA | GO:0005765 | lysosomal membrane |
| CC | IBA | GO:0005834 | heterotrimeric G-protein complex |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IEA | GO:0030425 | dendrite |
| CC | IEA | GO:0031965 | nuclear membrane |
| CC | IEA | GO:0044297 | cell body |
| CC | HDA | GO:0070062 | extracellular exosome |
| BP | IEA | GO:0001501 | skeletal system development |
| BP | IBA | GO:0001508 | action potential |
| BP | IMP | GO:0006469 | negative regulation of protein kinase activity |
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IBA | GO:0007188 | adenylate cyclase-modulating G-protein coupled receptor signaling pathway |
| BP | IBA | GO:0007189 | adenylate cyclase-activating G-protein coupled receptor signaling pathway |
| BP | TAS | GO:0007202 | activation of phospholipase C activity |
| BP | ISS | GO:0007213 | G-protein coupled acetylcholine receptor signaling pathway |
| BP | IBA | GO:0007215 | glutamate receptor signaling pathway |
| BP | IEA | GO:0007507 | heart development |
| BP | TAS | GO:0007596 | blood coagulation |
| BP | ISS | GO:0007603 | phototransduction, visible light |
| BP | ISS | GO:0009649 | entrainment of circadian clock |
| BP | IEA | GO:0009791 | post-embryonic development |
| BP | IEA | GO:0016322 | neuron remodeling |
| BP | IEA | GO:0021884 | forebrain neuron development |
| BP | TAS | GO:0030168 | platelet activation |
| BP | IEA | GO:0042711 | maternal behavior |
| BP | IEA | GO:0042733 | embryonic digit morphogenesis |
| BP | IEA | GO:0043547 | positive regulation of GTPase activity |
| BP | IEA | GO:0045634 | regulation of melanocyte differentiation |
| BP | IEA | GO:0048066 | developmental pigmentation |
| BP | IMP | GO:0050821 | protein stabilization |
| BP | IMP | GO:0060828 | regulation of canonical Wnt signaling pathway |
| MF | IBA | GO:0001664 | G-protein coupled receptor binding |
| MF | IBA | GO:0003924 | GTPase activity |
| MF | IEA | GO:0003924 | GTPase activity |
| MF | IBA | GO:0005096 | GTPase activator activity |
| MF | IDA | GO:0005096 | GTPase activator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005525 | GTP binding |
| MF | IBA | GO:0031683 | G-protein beta/gamma-subunit complex binding |
| MF | IBA | GO:0031826 | type 2A serotonin receptor binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: GNAQ
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GNAQ
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2032 | Human Thyroid Stimulating Hormone (TSH) signaling pathway |
| wikipathways | WP2038 | Regulation of Microtubule Cytoskeleton |
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP2355 | Corticotropin-releasing hormone signaling pathway |
| wikipathways | WP289 | Myometrial Relaxation and Contraction Pathways |
| wikipathways | WP35 | G Protein Signaling Pathways |
| wikipathways | WP3594 | Circadian rythm related genes |
| wikipathways | WP3679 | Cell-type Dependent Selectivity of CCK2R Signaling |
| wikipathways | WP536 | Calcium Regulation in the Cardiac Cell |
| wikipathways | WP732 | Serotonin Receptor 2 and ELK-SRF-GATA4 signaling |
| wikipathways | WP733 | Serotonin Receptor 2 and STAT3 Signaling |
| pid | arf6_pathway | Arf6 signaling events |
| pid | endothelinpathway | Endothelins |
| pid | er_nongenomic_pathway | Plasma membrane estrogen receptor signaling |
| pid | lysophospholipid_pathway | LPA receptor mediated events |
| pid | s1p_meta_pathway | Sphingosine 1-phosphate (S1P) pathway |
| pid | s1p_s1p2_pathway | S1P2 pathway |
| pid | s1p_s1p3_pathway | S1P3 pathway |
| pid | thrombin_par1_pathway | PAR1-mediated thrombin signaling events |
| pid | thrombin_par4_pathway | PAR4-mediated thrombin signaling events |
| pid | txa2pathway | Thromboxane A2 receptor signaling |
| netpath | Pathway_Ghrelin | Ghrelin |
| netpath | Pathway_Leptin | Leptin |
| netpath | Pathway_TSH | TSH |
| pharmgkb | PA154444041 | Platelet Aggregation Inhibitor Pathway, Pharmacodynamics |
| pharmgkb | PA161749006 | Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics |
| kegg | hsa04015 | Rap1 signaling pathway - Homo sapiens (human) |
| kegg | hsa04020 | Calcium signaling pathway - Homo sapiens (human) |
| kegg | hsa04022 | cGMP-PKG signaling pathway - Homo sapiens (human) |
| kegg | hsa04071 | Sphingolipid signaling pathway - Homo sapiens (human) |
| kegg | hsa04261 | Adrenergic signaling in cardiomyocytes - Homo sapiens (human) |
| kegg | hsa04270 | Vascular smooth muscle contraction - Homo sapiens (human) |
| kegg | hsa04371 | Apelin signaling pathway - Homo sapiens (human) |
| kegg | hsa04540 | Gap junction - Homo sapiens (human) |
| kegg | hsa04611 | Platelet activation - Homo sapiens (human) |
| kegg | hsa04713 | Circadian entrainment - Homo sapiens (human) |
| kegg | hsa04720 | Long-term potentiation - Homo sapiens (human) |
| kegg | hsa04723 | Retrograde endocannabinoid signaling - Homo sapiens (human) |
| kegg | hsa04724 | Glutamatergic synapse - Homo sapiens (human) |
| kegg | hsa04725 | Cholinergic synapse - Homo sapiens (human) |
| kegg | hsa04726 | Serotonergic synapse - Homo sapiens (human) |
| kegg | hsa04728 | Dopaminergic synapse - Homo sapiens (human) |
| kegg | hsa04730 | Long-term depression - Homo sapiens (human) |
| kegg | hsa04750 | Inflammatory mediator regulation of TRP channels - Homo sapiens (human) |
| kegg | hsa04911 | Insulin secretion - Homo sapiens (human) |
| kegg | hsa04912 | GnRH signaling pathway - Homo sapiens (human) |
| kegg | hsa04915 | Estrogen signaling pathway - Homo sapiens (human) |
| kegg | hsa04916 | Melanogenesis - Homo sapiens (human) |
| kegg | hsa04918 | Thyroid hormone synthesis - Homo sapiens (human) |
| kegg | hsa04921 | Oxytocin signaling pathway - Homo sapiens (human) |
| kegg | hsa04922 | Glucagon signaling pathway - Homo sapiens (human) |
| kegg | hsa04924 | Renin secretion - Homo sapiens (human) |
| kegg | hsa04925 | Aldosterone synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04927 | Cortisol synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| kegg | hsa04961 | Endocrine and other factor-regulated calcium reabsorption - Homo sapiens (human) |
| kegg | hsa04970 | Salivary secretion - Homo sapiens (human) |
| kegg | hsa04971 | Gastric acid secretion - Homo sapiens (human) |
| kegg | hsa04972 | Pancreatic secretion - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| kegg | hsa05016 | Huntington,s disease - Homo sapiens (human) |
| kegg | hsa05142 | Chagas disease (American trypanosomiasis) - Homo sapiens (human) |
| kegg | hsa05143 | African trypanosomiasis - Homo sapiens (human) |
| kegg | hsa05146 | Amoebiasis - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| biocarta | at1rpathway | angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling |
| biocarta | calcineurinpathway | effects of calcineurin in keratinocyte differentiation |
| biocarta | ccr3pathway | ccr3 signaling in eosinophils |
| biocarta | ccr5pathway | pertussis toxin-insensitive ccr5 signaling in macrophage |
| biocarta | cxcr4pathway | cxcr4 signaling pathway |
| biocarta | gpcrpathway | signaling pathway from g-protein families |
| biocarta | myosinpathway | pkc-catalyzed phosphorylation of inhibitory phosphoprotein of myosin phosphatase |
| biocarta | no1pathway | actions of nitric oxide in the heart |
| biocarta | par1pathway | thrombin signaling and protease-activated receptors |
| biocarta | pkcpathway | activation of pkc through g-protein coupled receptors |
| biocarta | pyk2pathway | links between pyk2 and map kinases |
| biocarta | tubbypathway | g-protein signaling through tubby proteins |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-163685 | Integration of energy metabolism |
| reactome | R-HSA-163685 | Integration of energy metabolism |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-392518 | Signal amplification |
| reactome | R-HSA-392518 | Signal amplification |
| reactome | R-HSA-399997 | Acetylcholine regulates insulin secretion |
| reactome | R-HSA-399997 | Acetylcholine regulates insulin secretion |
| reactome | R-HSA-400451 | Free fatty acids regulate insulin secretion |
| reactome | R-HSA-400451 | Free fatty acids regulate insulin secretion |
| reactome | R-HSA-416476 | G alpha (q) signalling events |
| reactome | R-HSA-416476 | G alpha (q) signalling events |
| reactome | R-HSA-418592 | ADP signalling through P2Y purinoceptor 1 |
| reactome | R-HSA-418592 | ADP signalling through P2Y purinoceptor 1 |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-428930 | Thromboxane signalling through TP receptor |
| reactome | R-HSA-434316 | Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion |
| reactome | R-HSA-434316 | Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion |
| reactome | R-HSA-456926 | Thrombin signalling through proteinase activated receptors (PARs) |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD662 | JQ-1 | 1 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD596 | Vemurafenib | 1 |
| iGMDRD399 | Selumetinib | 5 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD989 | PKC inhibitor | 4 |
| iGMDRD513 | BML-259 | 1 |
| iGMDRD917 | HDAC inhibitor | 2 |
| iGMDRD474 | Avrainvillamide | 1 |
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD333 | MEK Inhibitor | 4 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD983 | PI3K pathway inhibitor | 4 |
| iGMDRD782 | DC-45-A2 | 2 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD608 | Refametinib | 1 |
| iGMDRD470 | Trametinib | 1 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD781 | Sirolimus | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GNAQ
CLASSFICATION
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