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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GNAQ Gene

protein-coding GIFtS: 65
GCID: GC09M080331

guanine nucleotide binding protein (G protein), q polypeptide

Explore 33 diseases affiliated with
GNAQ via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide¹ ²
GAQ¹ ² ³
G-ALPHA-Q¹
Guanine Nucleotide-Binding Protein Alpha-Q² ³
Guanine Nucleotide-Binding Protein G(Q) Subunit Alpha²

External Ids:	HGNC: 4390¹	Entrez Gene: 2776²	Ensembl: ENSG00000156052⁷	OMIM: 600998⁵	UniProtKB: P50148³

Export aliases for GNAQ gene to outside databases

Previous GC identifers: GC09M071382 GC09M072192 GC09M073904 GC09M075792 GC09M077564 GC09M079520 GC09M050167

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GNAQ:

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)

UniProtKB/Swiss-Prot: GNAQ_HUMAN, P50148

Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various

transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent

autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity)

summary for GNAQ:

Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein

contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand-receptor binding

results in detachment of the G protein, switching it to an 'on' state and permitting Galpha activation of

second messenger signalling cascades. There are several types of Galpha proteins; Galphaq/11 stimulates

PLCbeta which catalyses the hydrolysis of PIP2 to the second messengers IP3 and DAG.

Gene Wiki entry for GNAQ

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GNAQ gene promoter:
SRF c-Fos AP-1 ATF-2 SRF (504 AA) c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GNAQ promoter sequence

Search SABiosciences Chromatin IP Primers for GNAQ

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GNAQ

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21 Ensembl cytogenetic band: 9q21.2 HGNC cytogenetic band: 9q21

GNAQ Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GNAQ gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M080331: view genomic region (about GC identifiers)

Start:	80,331,003 bp from pter	End:	80,646,374 bp from pter
Size:	315,372 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GNAQ_HUMAN, P50148 (See protein sequence)

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

Size: 359 amino acids; 42142 Da

Subunit: G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide

binding site. Binds SLC9A3R1. Forms a complex with PECAM1 and BDKRB2. Interacts with PECAM1

Subcellular location: Nucleus (By similarity). Membrane (By similarity). Nucleus membrane (By similarity).

Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes (By

similarity)

Secondary accessions: O15108 Q13462 Q6NT27 Q92471 Q9BZB9

Explore the universe of human proteins at neXtProt for GNAQ: NX_P50148

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P50148

GNAQ Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002063.2

ENSEMBL proteins:

ENSP00000286548 ENSP00000391501 ENSP00000443197

Reactome Protein details: P50148
Human Recombinant Protein Products for GNAQ:

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	Novus Biologicals GNAQ Proteins Novus Biologicals GNAQ Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for GNAQ

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	TAS	9175863
GO:0005834	heterotrimeric G-protein complex	IBA	--
GO:0005886	plasma membrane	TAS	--
GO:0031234	extrinsic to internal side of plasma membrane	IBA	--

GNAQ for ontologies About GeneDecksing

GNAQ Antibody Products:

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Assay Products for GNAQ:

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	Uscn ELISAs and CLIAs for GNAQ

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GNAQ for domains About GeneDecksing

3 InterPro domains/families:

IPR001019 Gprotein_alpha_su

IPR000654 Gprotein_alpha_Q

IPR011025 GproteinA_insert

Graphical View of Domain Structure for InterPro Entry P50148

ProtoNet protein and cluster: P50148

2 Blocks protein families:

IPB000654 G-protein alpha subunit group Q signature

IPB001019 Alpha G-protein (transducin) signature

UniProtKB/Swiss-Prot: GNAQ_HUMAN, P50148

Similarity: Belongs to the G-alpha family. G(q) subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: GNAQ_HUMAN, P50148

Function: Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various

transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent

autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity)

Genatlas biochemistry entry for GNAQ:

guanine nucleotide binding protein (G protein) alpha q subunit,mediating pertussis toxin-resistant stimulation of

phospholipase C beta,expressed at high levels in brain,also expressed in mature erythrocytes,interacting with

components of the cell cytoskeleton,reduced expression in platelet signal transduction defect

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001664	G-protein coupled receptor binding	IBA	--
GO:0003924	GTPase activity	TAS	9238049
GO:0004871	signal transducer activity	IBA	--
GO:0005096	GTPase activator activity	IDA	15611106
GO:0005515	protein binding	IPI	--

GNAQ for ontologies About GeneDecksing

Phenotypes:
15/19 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Gnaq) (see all 19):

behavior/neurological	cardiovascular system	craniofacial	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument
limbs/digits/tail	mortality/aging	muscle	nervous system	normal

GNAQ for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for GNAQ: Gnaq^tm2.1Soff Gnaq^tm1Soff

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GNAQ

miRNA Products:		OriGene 3'-UTR Clone: GNAQ Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GNAQ
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate GNAQ (see all 18):
		hsa-miR-142-3p hsa-miR-642a hsa-miR-3664-5p hsa-miR-1271 hsa-miR-624 hsa-miR-3138 hsa-miR-3692 hsa-miR-96

		SwitchGear 3'UTR luciferase reporter plasmid: GNAQ 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GNAQ (see all 7) OriGene shRNA RFP: GNAQ OriGene siRNA: GNAQ
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GNAQ (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GNAQ OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: GNAQ (NM_002072)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNAQ
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAQ

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/49 super-pathways (see all 49) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Development Angiotensin activation of ERK

Development Angiotensin activation of ERK	1.00	Development_EDNRB signaling	0.54
Development_Angiotensin activation of ERK	0.98	Development EDNRB signaling	0.54
Development_G-Proteins mediated regulation MARK-ERK signaling	0.66	Cholinergic synapse	0.30
Development G-Proteins mediated regulation MARK-ERK signaling	0.66

Development_Endothelin-1/EDNRA transactivation of EGFR

Development_Endothelin-1/EDNRA transactivation of EGFR	1.00	Development_Endothelin-1/EDNRA signaling	0.41
Development Endothelin-1/EDNRA transactivation of EGFR	1.00	Cytoskeleton remodeling_FAK signaling	0.41
Development Endothelin-1/EDNRA signaling	0.41	Cytoskeleton remodeling FAK signaling	0.41

Translation_Translation regulation by Alpha-1 adrenergic receptors

	Translation_Translation regulation by Alpha-1 adrenergic receptors	1.00			Development_Activation of ERK by Alpha-1 adrenergic receptors	0.64
	Translation Translation regulation by Alpha-1 adrenergic receptors	1.00			Development Activation of ERK by Alpha-1 adrenergic receptors	0.64

Thromboxane signalling through TP receptor

	Thromboxane signalling through TP receptor	1.00			Signal amplification	0.74
	ADP signalling through P2Y purinoceptor 1	0.78			Thrombin signalling through proteinase activated receptors (PARs)	0.67

Regulation of Insulin Secretion by Free Fatty Acids

	Regulation of Insulin Secretion by Free Fatty Acids	1.00			Regulation of Insulin Secretion by Acetylcholine	0.64
	Regulation of Insulin Secretion by Fatty Acids Bound to GPR40 (FFAR1)	1.00			P2Y purinoceptor 1 activates MAP kinase p38 alpha	0.44

Pathway sources
See GeneCards unified pathways
Show all pathways

5/21 EMD Millipore Pathways for GNAQ (see all 21)

	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
	Transcription Transcription factor Tubby signaling pathways
	Translation Translation regulation by Alpha-1 adrenergic receptors
	Development Activation of ERK by Alpha-1 adrenergic receptors
	Cytoskeleton remodeling FAK signaling

2 Cell Signaling Technology (CST) Pathways for GNAQ

	Ca, cAMP and Lipid Signaling
	Neuroscience

5/22 GeneGo (Thomson Reuters) Pathways for GNAQ (see all 22)

	Development Endothelin-1/EDNRA transactivation of EGFR
	Development Endothelin-1/EDNRA signaling
	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
	Development Angiotensin signaling via PYK2
	Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

5/11 BioSystems Pathways for GNAQ (see all 11)

	Serotonin Receptor 2 and ELK-SRF/GATA4 signaling
	Myometrial Relaxation and Contraction Pathways
	Calcium Regulation in the Cardiac Cell
	G Protein Signaling Pathways
	TSH signaling pathway

5/18 Reactome Pathways for GNAQ (see all 18)

	Metabolism
	Regulation of Insulin Secretion by Fatty Acids Bound to GPR40 (FFAR1)
	Regulation of Insulin Secretion
	Regulation of Insulin Secretion by Free Fatty Acids
	Regulation of Insulin Secretion by Acetylcholine

2 PharmGKB Pathways for GNAQ

	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
	Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics

5/18 Kegg Pathways (Kegg details for GNAQ) (see all 18):

	Calcium signaling pathway
	Vascular smooth muscle contraction
	Gap junction
	Long-term potentiation
	Glutamatergic synapse

GNAQ for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GNAQ

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/156 Interacting proteins for GNAQ (P50148^{1, 2, 3} ENSP00000286548⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 156)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AGTR1	P30556²^,³, ENSP00000273430⁴	MINT-4791922 I2D: score=1 STRING: ENSP00000273430
ARRB1	P49407²^,³	MINT-8408601 MINT-8408621 I2D: score=1
PARP2	Q9UGN5²^,³, ENSP00000250416⁴	MINT-8202094 I2D: score=1 STRING: ENSP00000250416
CXCR5	P32302²^,³, ENSP00000292174⁴	MINT-50705 I2D: score=1 STRING: ENSP00000292174
BTK	Q06187³, ENSP00000308176⁴	I2D: score=3 STRING: ENSP00000308176

About this table

Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	IEA	--
GO:0001508	regulation of action potential	IBA	--
GO:0006184	GTP catabolic process	TAS	9238049
GO:0006469	negative regulation of protein kinase activity	IMP	--
GO:0006471	protein ADP-ribosylation	IEA	--

GNAQ for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GNAQ for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Enzo Life Sciences drugs & compounds for GNAQ

Compounds for GNAQ available from Tocris Bioscience About this table

Compound	Action	CAS #
Mastoparan X	G protein activator peptide	[72093-22-2]
G-Protein antagonist peptide	Inhibits G protein activation by GPCRs	[143675-79-0]
[D-Trp7,9,10]-Substance P	Inhibits M1 ACh receptor activation of Gq/11	[89430-38-6]

4 HMDB Compounds for GNAQ About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanine	GUN (see all 26)	73-40-5	--
Guanosine diphosphate	5'-GDP (see all 10)	146-91-8	--
Guanosine monophosphate	5'-GMP (see all 14)	85-32-5	--
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

10/22 Novoseek chemical compound relationships for GNAQ gene (see all 22) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gtp	48.7	10	10391901 (2), 11880496 (1), 15914039 (1), 16871065 (1) (see all 6)
thromboxane a2	42.7	8	9724809 (2), 10318854 (2), 15613029 (1), 12193606 (1)
carbachol	41.1	5	11166329 (2), 20399743 (1), 15117940 (1), 9045709 (1)
bisindolylmaleimide	40.3	1	12576304 (1)
pip2	35	5	11880496 (2), 17068099 (1)
inositol 1,4,5 trisphosphate	32.9	2	18948082 (1), 12897089 (1)
phosphoinositide	32.7	2	12576304 (1), 10801799 (1)
calcium	32.2	19	15794946 (2), 12716374 (2), 16081037 (2), 15613029 (1) (see all 13)
baclofen	16.7	1	16120656 (1)
adp	13	1	15613029 (1)

Search CenterWatch for drugs/clinical trials and news about GNAQ

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GNAQ gene:

NM_002072.3

Unigene Cluster for GNAQ:

Guanine nucleotide binding protein (G protein), q polypeptide

Hs.269782 [show with all ESTs]

Unigene Representative Sequence: NM_002072

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000286548(uc011lso.2 uc004akw.3) ENST00000411677 ENST00000397476

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		hsa-miR-142-3p hsa-miR-642a hsa-miR-3664-5p hsa-miR-1271 hsa-miR-624 hsa-miR-3138 hsa-miR-3692 hsa-miR-96

		SwitchGear 3'UTR luciferase reporter plasmid: GNAQ 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against GNAQ

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GNAQ (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GNAQ OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: GNAQ (NM_002072)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GNAQ
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GNAQ

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GNAQ Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat GNAQ
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GNAQ
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNAQ

Additional cDNA sequence:

AB073896.1 AF011496.1 AF329284.1 AF493896.1 AK129646.1 AK298579.1 AL832747.1 BC057777.1

BC067850.1 BC069520.1 BC075096.2 BC075097.2 JN184778.1 L40629.1 L76256.1 U40038.1

U43083.1

7 DOTS entries:

DT.100823736 DT.97807333 DT.212477 DT.121167267 DT.91773032 DT.95229216 DT.120980752

24/416 AceView cDNA sequences (see all 416):

AA307494 AI167503 AI803913 AA909494 AI249244 BF109469 BU184555 AI055957

AI421129 BG941607 AA974128 BQ614285 BM684429 BM979946 AA618575 AI342963

AI935772 CD644251 F03479 AW665760 AA883693 AI559448 BU160744 AL602189

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GNAQ expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAACCAACT

About this image
See GNAQ Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GNAQ

SOURCE GeneReport for Unigene cluster: Hs.269782

UniProtKB/Swiss-Prot: GNAQ_HUMAN, P50148

Tissue specificity: Predominantly expressed in ovary, prostate, testis and colon. Down-regulated in the peripheral

blood lymphocytes (PBLs) of rheumatoid arthritis patients (at protein level)

SABiosciences Expression via Pathway-Focused PCR Arrays including GNAQ:

G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat

GABA & Glutamate in human mouse rat

Huntington's Disease in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GNAQ

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GNAQ

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for GNAQ gene from 8/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GNAQ¹	guanine nucleotide binding protein (G protein), q polypeptide	88.39(n) 98.61(a)		427262 NM_001031427.1 NP_001026598.1
lizard (Anolis carolinensis)	Reptilia	GNAQ⁶	--	96(a)	1 ↔ 1	2(45524594-45634529)
African clawed frog (Xenopus laevis)	Amphibia	gnaq-A²	guanine nucleotide binding protein (G protein), q polypeptide	86.16(n)		L05540.1
zebrafish (Danio rerio)	Actinopterygii	gnaq¹	guanine nucleotide binding protein (G protein), q polypeptide	79.67(n) 92.76(a)		570108 NM_001144799.1 NP_001138271.1
fruit fly (Drosophila melanogaster)	Insecta	Galpha49B^{1 , 3}	phospholipase C activation heterotrimeric G-protein more³ G protein alpha49B¹	77(a) (best of 3)³ 70.54(n)¹ 84.99(a)¹		49B8³ 36384¹ NM_165925.2¹ NP_725197.2¹
worm (Caenorhabditis elegans)	Secernentea	odr-3³ egl-30¹	guanine nucleotide-binding protein³ Protein EGL-30¹	45(a) (best of 11)³ 68.56(n)¹ 83(a)¹		V(13249483-13252134)³ 171751¹ NM_170806.3¹ NP_740789.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	XLG1⁶ XLG2⁶ (see all 4)	extra-large GTP-binding protein 2 (see all 4)	9(a) 8(a) (see all 4)	many ↔ many many ↔ many (see all 4)	2(9995478-9999122) 4(16441179-16445005)
rice (Oryza sativa)	Liliopsida	XA7⁶ -- (see all 5)	G-protein alpha subunit, putative, expressed (see all 5)	29(a) 16(a) (see all 5)	many ↔ many many ↔ many (see all 5)	5(15552385-15556024) 10(1125704-1130461)

ENSEMBL Gene Tree for GNAQ (if available)
TreeFam Gene Tree for GNAQ (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GNAQ gene

GNA14² GNA11² GNAI3² GNAT2² GNA13² GNAT3² GNAT1² GNAI2²

GNA15² GNA12² GNAZ² GNAO1² GNAI1²

18 SIMAP similar genes for GNAQ using alignment to 6 protein entries: GNAQ_HUMAN (see all proteins):

GNA11 GNA14 GNA15 GNAI2 GNAT3 GNAL

GNAI3 GNAI1 GNAT2 GNAT1 GNA13 GNAO1

DKFZp686O0962 GNAZ GNA12 GNAS GSA WUGSC

GNAQ for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for GNAQ
PGOHUM00000240327

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121913492^1,2	C	other	50240570(-)	`GGGCCA/C/TAAGGT`	3	Q P L	mis¹		0	--	--	--	--
rs1059534^1,2		--	50168438(-)	`CTTCCC/ATGGTG`	1	--	ut3¹ ese³		3		MN NA	188
rs1059532^1,2	F,H	--	50168471(-)	`GTCTAA/GTTGTG`	2	*	syn¹		6		NS EA NA	410
rs1059531^1,2	H	--	50168486(-)	`AAGGAG/TTACAA`	2	E D	mis¹		6		NS EA NA	408
rs1059528^1,2		--	50168531(-)	`TTTGTC/GTTTGC`	2	V	syn¹		1		NA	2
rs1059527^1,2	H	--	50168542(-)	`AGAATA/GTCCGC`	2	I V	mis¹		6		NS EA NA	410
rs1059525^1,2		--	50168564(-)	`TTCACG/ATGCGC`	2	/T	syn¹ ese³		3		MN NA	188
rs112983864^1,2		--	50169039(+)	`TAAGTG/ATGCAC`	1	--	int¹		1		CSA	2
rs113978564^1,2		--	50170151(+)	`ATCATG/ATCATC`	1	--	int¹		1		CSA	2
rs78960202^1,2	C,F	--	50170367(+)	`CTACTA/GGCATG`	1	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for GNAQ (80331003 - 80581003 bp, first 250kb of GNAQ)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GNAQ
1 CNV: 65429
1 Indel: 13175
Human Gene Mutation Database (HGMD): GNAQ

5/6 SABiosciences Cancer Mutation PCR Assays for GNAQ (see all 6):

Cosmic Id	AA Change
28759	p.Q209L
13666	p.V359I
52975	p.R183Q
28758	p.Q209P
28414	p.N266fs*4

5/7 SABiosciences Cancer Mutation PCR Arrays containing GNAQ (see all 7):

Tyrosine Kinases & Cell Signaling Pathways Panel 384HT

Oncogene and Tumor Suppressor Panel 384HT

Melanoma

Cancer Comprehensive Panel 384HT

Oncogene Panel 384HT

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GNAQ

DNA2.0 Custom Variant and Variant Library Synthesis for GNAQ

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GNAQ for disorders           About GeneDecksing

OMIM gene information: 600998    OMIM disorders: --

20/33 diseases for GNAQ (see all 33):    About MalaCards

bleeding diathesis due to gnaq deficiency nevus polycystic ovary syndrome acanthocytosis

gitelman syndrome chorea insulin resistance fainting

chagas disease melanoma metastasis trypanosomiasis huntington's disease

vasculitis thyroiditis thrombosis pertussis

alzheimer's disease neurodegeneration thyroid cancer pharyngitis

1 disease from the University of Copenhagen DISEASES database for GNAQ:

Melanoma

6 Novoseek disease relationships for GNAQ gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
erythroleukemia	48.8	2	16995904 (1), 18989526 (1)
cardiac hypertrophy	25.9	2	14605019 (1), 9223325 (1)
carcinoid	7.5	1	11581306 (1)
hypertrophy	6.47	3	12639992 (1), 18434368 (1)
heart failure congestive	0	1	9223325 (1)
heart failure	0	4	17720980 (2), 12639992 (1)

Human Genome Epidemiology (HuGE) Navigator: GNAQ (8 documents)

Export disorders for GNAQ gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for GNAQ gene, integrated from 9 sources (see all 278):
(articles sorted by number of sources associating them with GNAQ)

Utopia: connect your pdf to the dynamic
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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)^{1, 2, 3} Dong Q.... Battey J. (1995)
Regulation of GTP-binding protein alpha q (Galpha q) signaling by the ezrin-radixin-moesin-binding phosphoprotein-50 (EBP50). (PubMed id 12193606)^{1, 2, 9} Rochdi M.D....Parent J.-L. (2002)
GNAQ and GNA11 mutations in melanocytomas of the central nervous system. (PubMed id 22307269)^{1, 2} Murali R.... Bastian B.C. (2012)
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. (PubMed id 19078957)^{1, 2} Van Raamsdonk C.D....Bastian B.C. (2009)
Regulation of G protein-coupled receptor activities by the platelet-endothelial cell adhesion molecule, PECAM-1. (PubMed id 18672896)^{1, 2} Yeh J.C....Frangos J.A. (2008)
G alpha q cDNA sequence from human platelets. (PubMed id 9700850)^{1, 2} Gabbeta J.... Rao A.K. (1998)
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)^{1, 2} Johnson G.J.... Dunlop P.C. (1996)
Human G(alpha q): cDNA and tissue distribution. (PubMed id 8664309)^{1, 2} Chen B.... Kwatra M.M. (1996)
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)^{1, 2} Thomas C.P.... Mattera R. (1995)
Signal-transducing G proteins and antidepressant drugs: evidence for modulation of alpha subunit gene expression in rat brain. (PubMed id 1333286)^{1, 2} Lesch K.-P. and Manji H.K. (1992)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2776	HGNC: 4390	AceView: GNAQ	Ensembl:ENSG00000156052	euGenes: HUgn2776
ECgene: GNAQ	Kegg: 2776	H-InvDB: GNAQ

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GNAQ	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GNAQ gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GNAQ gene:
Search GeneIP for patents involving GNAQ

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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GNAQ Gene

guanine nucleotide binding protein (G protein), q polypeptide

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GNAQ Gene

guanine nucleotide binding protein (G protein), q polypeptide

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