GNAQ G protein subunit alpha q [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNAQprovided by HGNC
Official Full Name: G protein subunit alpha qprovided by HGNC
Primary source: HGNC:HGNC:4390
See related: Ensembl:ENSG00000156052 MIM:600998; AllianceGenome:HGNC:4390
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAQ; SWS; CMAL; CMC1; G-ALPHA-q
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]
Expression: Ubiquitous expression in brain (RPKM 36.1), lung (RPKM 23.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q21.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (77716097..78031811, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (89873050..90188930, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (80331013..80646727, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Title: GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
Title: Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.
Galphaq Signaling Activates beta-Catenin-Dependent Gene Transcription.
Title: Gαq Signaling Activates β-Catenin-Dependent Gene Transcription.
GNAQ R183Q somatic mutation contributes to aberrant arteriovenous specification in Sturge-Weber syndrome through Notch signaling.
Title: GNAQ R183Q somatic mutation contributes to aberrant arteriovenous specification in Sturge-Weber syndrome through Notch signaling.
Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.
Title: Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.
Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.
Title: Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11.
Palmitoylation of GNAQ/11 is critical for tumor cell proliferation and survival in GNAQ/11-mutant uveal melanoma.
Title: Palmitoylation of GNAQ/11 is critical for tumor cell proliferation and survival in GNAQ/11-mutant uveal melanoma.
A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.
Title: A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis.
Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
Title: Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.
Title: Somatic GNAQ R183Q mutation is located within the sclera and episclera in patients with Sturge-Weber syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (212)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial multiple nevi flammei MedGen: C2931029 OMIM: 163000 GeneReviews: Not available	Compare labs
Sturge-Weber syndrome MedGen: C0038505 OMIM: 185300 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S1123 (e-PCR), detects polymorphism
- UniSTS:13315

SHGC-132278 (e-PCR)
- UniSTS:170756

SHGC-143088 (e-PCR)
- UniSTS:171790

SHGC-147581 (e-PCR)
- UniSTS:175889

A002Y36 (e-PCR)
- UniSTS:59945

RH79011 (e-PCR)
- UniSTS:35114

SHGC-53345 (e-PCR)
- UniSTS:63543

RH68862 (e-PCR)
- UniSTS:74379

STS-AA029953 (e-PCR)
- UniSTS:27032

RH47080 (e-PCR)
- UniSTS:32421

SHGC-85075 (e-PCR)
- UniSTS:185024

SHGC-56723 (e-PCR)
- UniSTS:13254

RH69769 (e-PCR)
- UniSTS:16840

WI-11656 (e-PCR)
- UniSTS:9428

SHGC-58639 (e-PCR)
- UniSTS:94442

NoName (e-PCR)
- UniSTS:481018

NoName (e-PCR)
- UniSTS:482300

G62798 (e-PCR)
- UniSTS:139775

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta/gamma-subunit complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	TAS Traceable Author Statement more info
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled acetylcholine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in activation of phospholipase C activity	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood coagulation	TAS Traceable Author Statement more info	PubMed
involved_in entrainment of circadian clock	ISS Inferred from Sequence or Structural Similarity more info
involved_in glutamate receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipase C-activating dopamine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phototransduction, visible light	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of platelet activation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	HDA more info	PubMed
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: guanine nucleotide-binding protein G(q) subunit alpha

Names: epididymis secretory sperm binding protein; guanine nucleotide binding protein (G protein), q polypeptide; guanine nucleotide-binding protein alpha-q

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027904.2 RefSeqGene

Range

4493..320207

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1110

mRNA and Protein(s)

NM_002072.5 → NP_002063.2 guanine nucleotide-binding protein G(q) subunit alpha

See identical proteins and their annotated locations for NP_002063.2

Status: REVIEWED

Source sequence(s)

AL160278, AL355535, BC067850

Consensus CDS

CCDS6658.1

UniProtKB/Swiss-Prot

O15108, P50148, Q13462, Q6NT27, Q92471, Q9BZB9

UniProtKB/TrEMBL

A0A024R240, G9FP35

Related

ENSP00000286548.4, ENST00000286548.9

Conserved Domains (1) summary

cd00066
Location:40 → 353

G-alpha; Alpha subunit of G proteins (guanine nucleotide binding)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

77716097..78031811 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423239.1 → XP_047279195.1 guanine nucleotide-binding protein G(q) subunit alpha isoform X1
XM_047423240.1 → XP_047279196.1 guanine nucleotide-binding protein G(q) subunit alpha isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

89873050..90188930 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362755.1 → XP_054218730.1 guanine nucleotide-binding protein G(q) subunit alpha isoform X1
XM_054362756.1 → XP_054218731.1 guanine nucleotide-binding protein G(q) subunit alpha isoform X1