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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:600998
PHARMGKB IDPA174
Map Location9q21.2

GO terms in GNAQ


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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
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Gene expression in normal tissue: GNAQ

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 18BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 1SKItissue: SKI cancer: SKIN model num: 0SKINtissue: SKIN cancer: Cutaneous Melanoma (SKCM) model num: 8SKINtissue: SKIN cancer: Melanoma (MEL) model num: 8EYtissue: EY cancer: EYE model num: 0EYEtissue: EYE cancer: Uveal Melanoma (UM) model num: 4

Gene-drug pathway distribution

undefined11ERK MAPK signaling4Longevity regulating pathway1Apoptosis regulation1p53 pathway1Chromatin other1

Pathways in GNAQ


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD662 JQ-1 1
iGMDRD100 Zebularine 2
iGMDRD596 Vemurafenib 1
iGMDRD399 Selumetinib 5
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in GNAQ

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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