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GNAQ

GENERAL INFORMATION

Gene name

 GNAQ

Gene description

 Guanine nucleotide binding protein (G protein), q polypeptide

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and membranous expression at variable levels in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Caution, targets protein from more than one gene. Pending external verification.

Reliability score

 Uncertain based on 2 antibodies.
HPA048886 , CAB010036
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Stomach

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 GNAQ (HGNC Symbol)

Synonyms

 G-ALPHA-q, GAQ

Description

 Guanine nucleotide binding protein (G protein), q polypeptide (HGNC Symbol)

Entrez gene 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]

Chromosome

 9

Cytoband

 q21.2

Chromosome location (bp)

 77716087 - 78031458

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000156052 (version 83.38)

Entrez gene

 2776

UniProt

 P50148 (UniProt - Evidence at protein level)

neXtProt

 NX_P50148

Antibodypedia

 GNAQ antibodies

PROTEIN BROWSER
GNAQ-001
GNAQ-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GNAQ-001
ENSP00000286548
ENST00000286548
P50148 [Direct mapping]
Guanine nucleotide-binding protein G(q) subunit alpha
A0A024R240 [Target identity:100%; Query identity:100%]
Guanine nucleotide binding protein (G protein), q polypeptide, isoform CRA_c
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Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001501 [skeletal system development]
GO:0001508 [action potential]
GO:0001750 [photoreceptor outer segment]
GO:0003924 [GTPase activity]
GO:0004871 [signal transducer activity]
GO:0005096 [GTPase activator activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005737 [cytoplasm]
GO:0005765 [lysosomal membrane]
GO:0005834 [heterotrimeric G-protein complex]
GO:0005886 [plasma membrane]
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:0008152 [metabolic process]
GO:0009649 [entrainment of circadian clock]
GO:0009791 [post-embryonic development]
GO:0016020 [membrane]
GO:0016322 [neuron remodeling]
GO:0019001 [guanyl nucleotide binding]
GO:0021884 [forebrain neuron development]
GO:0030168 [platelet activation]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
GO:0031826 [type 2A serotonin receptor binding]
GO:0031965 [nuclear membrane]
GO:0035412 [regulation of catenin import into nucleus]
GO:0042711 [maternal behavior]
GO:0042733 [embryonic digit morphogenesis]
GO:0043547 [positive regulation of GTPase activity]
GO:0045634 [regulation of melanocyte differentiation]
GO:0046872 [metal ion binding]
GO:0048066 [developmental pigmentation]
GO:0050821 [protein stabilization]
GO:0060158 [phospholipase C-activating dopamine receptor signaling pathway]
GO:0070062 [extracellular exosome]
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 359 aa
42.1 kDa 		No 0
GNAQ-002
ENSP00000391501
ENST00000411677
B1AM21 [Direct mapping]
Guanine nucleotide-binding protein G(q) subunit alpha
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Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001508 [action potential]
GO:0003924 [GTPase activity]
GO:0004871 [signal transducer activity]
GO:0005834 [heterotrimeric G-protein complex]
GO:0007165 [signal transduction]
GO:0007186 [G-protein coupled receptor signaling pathway]
GO:0007189 [adenylate cyclase-activating G-protein coupled receptor signaling pathway]
GO:0007215 [glutamate receptor signaling pathway]
GO:0008152 [metabolic process]
GO:0019001 [guanyl nucleotide binding]
GO:0031683 [G-protein beta/gamma-subunit complex binding]
GO:0031826 [type 2A serotonin receptor binding]
GO:0060158 [phospholipase C-activating dopamine receptor signaling pathway]
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 170 aa
19.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.