Details for: GNAQ

Gene ID: 2776

Symbol: GNAQ

Ensembl ID: ENSG00000156052

Description: G protein subunit alpha q

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 728.6948
    Cell Significance Index: -113.3500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 425.4398
    Cell Significance Index: -107.9100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 249.1937
    Cell Significance Index: -117.6500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 215.7721
    Cell Significance Index: -110.9900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 175.4339
    Cell Significance Index: -117.7200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 96.0132
    Cell Significance Index: -118.3800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 42.5573
    Cell Significance Index: -114.0100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 37.3797
    Cell Significance Index: -114.8100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 34.7302
    Cell Significance Index: -76.0100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 30.2074
    Cell Significance Index: -119.2000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 5.6256
    Cell Significance Index: 123.1800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 4.3384
    Cell Significance Index: 243.4500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 3.7592
    Cell Significance Index: 252.7700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 3.2438
    Cell Significance Index: 199.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.8122
    Cell Significance Index: 1008.6900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.7904
    Cell Significance Index: 79.6300
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.7686
    Cell Significance Index: 39.8200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.7059
    Cell Significance Index: 33.5600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.5016
    Cell Significance Index: 501.8200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.3692
    Cell Significance Index: 470.1800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.2389
    Cell Significance Index: 84.7800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.2149
    Cell Significance Index: 97.9700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 2.2087
    Cell Significance Index: 52.9700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.0562
    Cell Significance Index: 1422.1200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.7974
    Cell Significance Index: 50.2300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.1658
    Cell Significance Index: 126.8100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0821
    Cell Significance Index: 133.0600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.8619
    Cell Significance Index: 155.3800
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.8138
    Cell Significance Index: 11.3800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.7945
    Cell Significance Index: 1495.8800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7554
    Cell Significance Index: 412.5300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.7340
    Cell Significance Index: 139.6800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.6811
    Cell Significance Index: 432.5500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6067
    Cell Significance Index: 98.6700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5088
    Cell Significance Index: 459.4500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.5032
    Cell Significance Index: 774.7000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4102
    Cell Significance Index: 24.6300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3160
    Cell Significance Index: 43.3900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2620
    Cell Significance Index: 4.4900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.2540
    Cell Significance Index: 468.4800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2106
    Cell Significance Index: 20.8300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1675
    Cell Significance Index: 227.8000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0666
    Cell Significance Index: 30.2100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0015
    Cell Significance Index: -0.0400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0085
    Cell Significance Index: -0.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0359
    Cell Significance Index: -1.2600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0445
    Cell Significance Index: -19.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0549
    Cell Significance Index: -7.9900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0555
    Cell Significance Index: -3.5800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0782
    Cell Significance Index: -59.2200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.1020
    Cell Significance Index: -74.7900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.1369
    Cell Significance Index: -101.4400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2031
    Cell Significance Index: -20.7400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2052
    Cell Significance Index: -2.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.2104
    Cell Significance Index: -118.6500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.2205
    Cell Significance Index: -137.7100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.3539
    Cell Significance Index: -7.5700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.3549
    Cell Significance Index: -60.6000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3645
    Cell Significance Index: -104.8700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.4488
    Cell Significance Index: -31.0400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.4990
    Cell Significance Index: -64.4700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.5136
    Cell Significance Index: -23.2800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.5333
    Cell Significance Index: -25.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5401
    Cell Significance Index: -25.1800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.5628
    Cell Significance Index: -72.1500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5919
    Cell Significance Index: -68.9800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6062
    Cell Significance Index: -63.1200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.6491
    Cell Significance Index: -136.7100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.6560
    Cell Significance Index: -18.9000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.8219
    Cell Significance Index: -94.1600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.9213
    Cell Significance Index: -68.6600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.9645
    Cell Significance Index: -113.7400
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -1.0063
    Cell Significance Index: -6.0800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.1517
    Cell Significance Index: -59.8300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -1.2095
    Cell Significance Index: -92.8200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.2646
    Cell Significance Index: -100.1600
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -1.4443
    Cell Significance Index: -29.9600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.5073
    Cell Significance Index: -40.3200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.5389
    Cell Significance Index: -32.7800
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -1.6195
    Cell Significance Index: -27.2800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.6622
    Cell Significance Index: -87.2700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.6832
    Cell Significance Index: -53.9100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.7338
    Cell Significance Index: -106.3000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.7402
    Cell Significance Index: -44.7300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -1.7800
    Cell Significance Index: -125.8900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -1.7904
    Cell Significance Index: -47.9800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -1.9332
    Cell Significance Index: -52.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -2.0586
    Cell Significance Index: -129.7500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -2.0596
    Cell Significance Index: -67.4300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -2.1150
    Cell Significance Index: -67.3600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -2.1946
    Cell Significance Index: -54.8600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -2.2500
    Cell Significance Index: -33.2100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -2.2628
    Cell Significance Index: -78.6300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -2.4255
    Cell Significance Index: -44.8300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -2.4341
    Cell Significance Index: -48.1300
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -2.6258
    Cell Significance Index: -19.0900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -2.7124
    Cell Significance Index: -95.0200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -2.7474
    Cell Significance Index: -58.3100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -2.7541
    Cell Significance Index: -39.5500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -2.7621
    Cell Significance Index: -101.4000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Structure**: GαQ is a G protein subunit composed of three domains: the N-terminal domain, the GTP-binding domain, and the C-terminal domain. 2. **Function**: GαQ is a stimulatory G protein (Gs) that activates adenylate cyclase, leading to increased cAMP levels and subsequent signaling cascades. 3. **Expression**: The GNAQ gene is widely expressed in various cell types, including neurons, glial cells, epithelial cells, and chromaffin cells. 4. **Regulation**: GαQ is regulated by GTP binding and hydrolysis, as well as by interactions with other G proteins and effectors. **Pathways and Functions** 1. **Insulin Secretion**: GαQ is involved in the regulation of insulin secretion in pancreatic beta cells, where it activates adenylate cyclase and increases cAMP levels. 2. **Platelet Activation**: GαQ plays a role in platelet activation and aggregation, where it regulates the phosphorylation of platelet proteins and activation of signaling pathways. 3. **Blood Coagulation**: GαQ is involved in the regulation of blood coagulation, where it interacts with platelet receptors and regulates thrombin signaling. 4. **Circadian Clock**: GαQ is also involved in the regulation of the circadian clock, where it interacts with clock proteins and regulates the expression of circadian genes. 5. **Neurotransmission**: GαQ is involved in neurotransmission, where it regulates the release of neurotransmitters and synaptic plasticity. **Clinical Significance** 1. **Melanoma**: Mutations in the GNAQ gene have been identified in a subset of melanomas, where they lead to the activation of the MAPK/ERK signaling pathway. 2. **Migratory Retinal Hemangioma**: Mutations in the GNAQ gene have also been identified in migratory retinal hemangiomas, where they lead to the activation of the MAPK/ERK signaling pathway. 3. **Neurological Disorders**: GαQ has been implicated in the pathogenesis of various neurological disorders, including Parkinson's disease, Alzheimer's disease, and Huntington's disease. 4. **Cancer**: GαQ has been implicated in the development and progression of various cancers, including breast cancer, lung cancer, and colon cancer. In conclusion, the GNAQ gene plays a critical role in regulating various cellular processes, including insulin secretion, platelet activation, and blood coagulation. Mutations in the GNAQ gene have been associated with several diseases, including melanoma and migratory retinal hemangioma. Further research is needed to fully understand the role of GαQ in human disease and to develop targeted therapies for the treatment of these disorders.

Genular Protein ID: 3816826265

Symbol: GNAQ_HUMAN

Name: Guanine nucleotide-binding protein G(q) subunit alpha

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8825633

Title: 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

DOI: 10.1006/geno.1995.1267

PubMed ID: 8664309

Title: Human G(alpha q): cDNA and tissue distribution.

PubMed ID: 8664309

DOI: 10.1016/0005-2736(96)00039-9

PubMed ID: 8836152

Title: Specificity of G alpha q and G alpha 11 gene expression in platelets and erythrocytes. Expressions of cellular differentiation and species differences.

PubMed ID: 8836152

DOI: 10.1042/bj3181023

PubMed ID: 9700850

Title: G alpha q cDNA sequence from human platelets.

PubMed ID: 9700850

DOI: 10.1016/s0049-3848(98)00071-1

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1333286

Title: Signal-transducing G proteins and antidepressant drugs: evidence for modulation of alpha subunit gene expression in rat brain.

PubMed ID: 1333286

DOI: 10.1016/0006-3223(92)90070-g

PubMed ID: 7492305

Title: Ca2+ signalling in K562 human erythroleukaemia cells: effect of dimethyl sulphoxide and role of G-proteins in thrombin- and thromboxane A2-activated pathways.

PubMed ID: 7492305

DOI: 10.1042/bj3120151

PubMed ID: 12193606

Title: Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50).

PubMed ID: 12193606

DOI: 10.1074/jbc.m207910200

PubMed ID: 18672896

Title: Regulation of G protein-coupled receptor activities by the platelet-endothelial cell adhesion molecule, PECAM-1.

PubMed ID: 18672896

DOI: 10.1021/bi8003846

PubMed ID: 19001095

Title: Identification of G protein alpha subunit-palmitoylating enzyme.

PubMed ID: 19001095

DOI: 10.1128/mcb.01144-08

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21923740

Title: Expression of G protein alphaq subunit is decreased in lymphocytes from rheumatoid arthritis patients and is correlated with disease activity.

PubMed ID: 21923740

DOI: 10.1111/j.1365-3083.2011.02635.x

PubMed ID: 23994616

Title: A novel Galphas-binding protein, Gas-2 like 2, facilitates the signaling of the A2A adenosine receptor.

PubMed ID: 23994616

DOI: 10.1016/j.bbamcr.2013.08.009

PubMed ID: 23656586

Title: Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

PubMed ID: 23656586

DOI: 10.1056/nejmoa1213507

PubMed ID: 24141704

Title: A bacterial toxin catalyzing tyrosine glycosylation of Rho and deamidation of Gq and Gi proteins.

PubMed ID: 24141704

DOI: 10.1038/nsmb.2688

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27852822

Title: Targeted Elimination of G Proteins and Arrestins Defines Their Specific Contributions to Both Intensity and Duration of G Protein-coupled Receptor Signaling.

PubMed ID: 27852822

DOI: 10.1074/jbc.m116.754887

PubMed ID: 37991948

Title: The mechanism of Galphaq regulation of PLCbeta3-catalyzed PIP2 hydrolysis.

PubMed ID: 37991948

DOI: 10.1073/pnas.2315011120

PubMed ID: 19078957

Title: Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.

PubMed ID: 19078957

DOI: 10.1038/nature07586

PubMed ID: 22307269

Title: GNAQ and GNA11 mutations in melanocytomas of the central nervous system.

PubMed ID: 22307269

DOI: 10.1007/s00401-012-0948-x

Sequence Information:

  • Length: 359
  • Mass: 42142
  • Checksum: 6F69C4F617DFA7C7
  • Sequence:
  • MTLESIMACC LSEEAKEARR INDEIERQLR RDKRDARREL KLLLLGTGES GKSTFIKQMR 
    IIHGSGYSDE DKRGFTKLVY QNIFTAMQAM IRAMDTLKIP YKYEHNKAHA QLVREVDVEK 
    VSAFENPYVD AIKSLWNDPG IQECYDRRRE YQLSDSTKYY LNDLDRVADP AYLPTQQDVL 
    RVRVPTTGII EYPFDLQSVI FRMVDVGGQR SERRKWIHCF ENVTSIMFLV ALSEYDQVLV 
    ESDNENRMEE SKALFRTIIT YPWFQNSSVI LFLNKKDLLE EKIMYSHLVD YFPEYDGPQR 
    DAQAAREFIL KMFVDLNPDS DKIIYSHFTC ATDTENIRFV FAAVKDTILQ LNLKEYNLV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.