Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	2776
Gene name	G protein subunit alpha q
Gene symbol	GNAQ
Synonyms (NCBI Gene)	CMALCMC1G-ALPHA-qGAQSWS
Chromosome	9
Chromosome location	9q21.2
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121913492	T>A,C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397514698	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057519853	TG>AA	Likely-pathogenic	Coding sequence variant, missense variant

316

Show/Hide all (316)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021640	hsa-miR-142-3p	Microarray	17612493
MIRT021961	hsa-miR-128-3p	Microarray	17612493
MIRT030765	hsa-miR-21-5p	Microarray	18591254
MIRT612954	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT612953	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT612952	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT612951	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT612950	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT614978	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT614976	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT612954	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT612953	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT612952	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT612951	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT612950	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT562279	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT562278	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT562277	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT562276	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT562275	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT562274	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT562272	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT562273	hsa-miR-653-5p	PAR-CLIP	20371350
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614976	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614976	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614976	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	27418678
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	27418678
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	27418678
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	27418678
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614978	hsa-miR-767-5p	HITS-CLIP	27418678
MIRT614978	hsa-miR-767-5p	HITS-CLIP	27418678
MIRT614978	hsa-miR-767-5p	HITS-CLIP	27418678
MIRT614978	hsa-miR-767-5p	HITS-CLIP	27418678
MIRT614976	hsa-miR-129-5p	HITS-CLIP	28735896
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	28735896
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	28735896
MIRT614978	hsa-miR-767-5p	HITS-CLIP	28735896
MIRT612954	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT612953	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT612952	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT612951	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT612950	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT614978	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT614976	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT612954	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT612953	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT612952	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT612951	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT612950	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT562279	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT562278	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT562277	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT562276	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT562275	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT562274	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT562272	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT562273	hsa-miR-653-5p	PAR-CLIP	20371350
MIRT1023536	hsa-miR-1207-5p	CLIP-seq
MIRT1023537	hsa-miR-1271	CLIP-seq
MIRT1023538	hsa-miR-1321	CLIP-seq
MIRT1023539	hsa-miR-15a	CLIP-seq
MIRT1023540	hsa-miR-15b	CLIP-seq
MIRT1023541	hsa-miR-16	CLIP-seq
MIRT1023542	hsa-miR-182	CLIP-seq
MIRT1023543	hsa-miR-195	CLIP-seq
MIRT1023544	hsa-miR-202	CLIP-seq
MIRT1023545	hsa-miR-2114	CLIP-seq
MIRT1023546	hsa-miR-30a	CLIP-seq
MIRT1023547	hsa-miR-30b	CLIP-seq
MIRT1023548	hsa-miR-30c	CLIP-seq
MIRT1023549	hsa-miR-30d	CLIP-seq
MIRT1023550	hsa-miR-30e	CLIP-seq
MIRT1023551	hsa-miR-3117-5p	CLIP-seq
MIRT1023552	hsa-miR-3125	CLIP-seq
MIRT1023553	hsa-miR-3132	CLIP-seq
MIRT1023554	hsa-miR-3136-5p	CLIP-seq
MIRT1023555	hsa-miR-3141	CLIP-seq
MIRT1023556	hsa-miR-3152-5p	CLIP-seq
MIRT1023557	hsa-miR-3163	CLIP-seq
MIRT1023558	hsa-miR-3199	CLIP-seq
MIRT1023559	hsa-miR-3202	CLIP-seq
MIRT1023560	hsa-miR-342-3p	CLIP-seq
MIRT1023561	hsa-miR-3651	CLIP-seq
MIRT1023562	hsa-miR-3653	CLIP-seq
MIRT1023563	hsa-miR-3656	CLIP-seq
MIRT1023564	hsa-miR-377	CLIP-seq
MIRT1023565	hsa-miR-3916	CLIP-seq
MIRT1023566	hsa-miR-3976	CLIP-seq
MIRT1023567	hsa-miR-424	CLIP-seq
MIRT1023568	hsa-miR-425	CLIP-seq
MIRT1023569	hsa-miR-4251	CLIP-seq
MIRT1023570	hsa-miR-4291	CLIP-seq
MIRT1023571	hsa-miR-4310	CLIP-seq
MIRT1023572	hsa-miR-4314	CLIP-seq
MIRT1023573	hsa-miR-4321	CLIP-seq
MIRT1023574	hsa-miR-4419a	CLIP-seq
MIRT1023575	hsa-miR-4433	CLIP-seq
MIRT1023576	hsa-miR-4436b-3p	CLIP-seq
MIRT1023577	hsa-miR-4439	CLIP-seq
MIRT1023578	hsa-miR-4457	CLIP-seq
MIRT1023579	hsa-miR-4459	CLIP-seq
MIRT1023580	hsa-miR-4510	CLIP-seq
MIRT1023581	hsa-miR-4513	CLIP-seq
MIRT1023582	hsa-miR-4524	CLIP-seq
MIRT1023583	hsa-miR-4662a-3p	CLIP-seq
MIRT1023584	hsa-miR-4714-3p	CLIP-seq
MIRT1023585	hsa-miR-4731-5p	CLIP-seq
MIRT1023586	hsa-miR-4733-3p	CLIP-seq
MIRT1023587	hsa-miR-4739	CLIP-seq
MIRT1023588	hsa-miR-4747-5p	CLIP-seq
MIRT1023589	hsa-miR-4756-5p	CLIP-seq
MIRT1023590	hsa-miR-4763-3p	CLIP-seq
MIRT1023591	hsa-miR-4768-3p	CLIP-seq
MIRT1023592	hsa-miR-4774-3p	CLIP-seq
MIRT1023593	hsa-miR-4779	CLIP-seq
MIRT1023594	hsa-miR-4781-5p	CLIP-seq
MIRT1023595	hsa-miR-4789-3p	CLIP-seq
MIRT1023596	hsa-miR-4797-5p	CLIP-seq
MIRT1023597	hsa-miR-493	CLIP-seq
MIRT1023598	hsa-miR-497	CLIP-seq
MIRT1023599	hsa-miR-503	CLIP-seq
MIRT1023600	hsa-miR-513b	CLIP-seq
MIRT1023601	hsa-miR-514	CLIP-seq
MIRT1023602	hsa-miR-514b-3p	CLIP-seq
MIRT1023603	hsa-miR-548ag	CLIP-seq
MIRT1023604	hsa-miR-548ai	CLIP-seq
MIRT1023605	hsa-miR-548al	CLIP-seq
MIRT1023606	hsa-miR-574-3p	CLIP-seq
MIRT1023607	hsa-miR-579	CLIP-seq
MIRT1023608	hsa-miR-580	CLIP-seq
MIRT1023609	hsa-miR-581	CLIP-seq
MIRT1023610	hsa-miR-624	CLIP-seq
MIRT1023611	hsa-miR-642a	CLIP-seq
MIRT1023612	hsa-miR-646	CLIP-seq
MIRT1023613	hsa-miR-664	CLIP-seq
MIRT1023614	hsa-miR-665	CLIP-seq
MIRT1023615	hsa-miR-96	CLIP-seq
MIRT2003534	hsa-miR-1204	CLIP-seq
MIRT1023536	hsa-miR-1207-5p	CLIP-seq
MIRT2003535	hsa-miR-1267	CLIP-seq
MIRT1023537	hsa-miR-1271	CLIP-seq
MIRT2003536	hsa-miR-135a	CLIP-seq
MIRT2003537	hsa-miR-135b	CLIP-seq
MIRT1023542	hsa-miR-182	CLIP-seq
MIRT1023551	hsa-miR-3117-5p	CLIP-seq
MIRT1023555	hsa-miR-3141	CLIP-seq
MIRT1023559	hsa-miR-3202	CLIP-seq
MIRT2003538	hsa-miR-3609	CLIP-seq
MIRT2003539	hsa-miR-3921	CLIP-seq
MIRT2003540	hsa-miR-3945	CLIP-seq
MIRT2003541	hsa-miR-4253	CLIP-seq
MIRT2003542	hsa-miR-4303	CLIP-seq
MIRT1023576	hsa-miR-4436b-3p	CLIP-seq
MIRT2003543	hsa-miR-448	CLIP-seq
MIRT2003544	hsa-miR-455-3p	CLIP-seq
MIRT2003545	hsa-miR-4642	CLIP-seq
MIRT2003546	hsa-miR-4653-5p	CLIP-seq
MIRT1023588	hsa-miR-4747-5p	CLIP-seq
MIRT2003547	hsa-miR-4760-5p	CLIP-seq
MIRT1023590	hsa-miR-4763-3p	CLIP-seq
MIRT2003548	hsa-miR-4768-5p	CLIP-seq
MIRT1023595	hsa-miR-4789-3p	CLIP-seq
MIRT2003549	hsa-miR-491-3p	CLIP-seq
MIRT1023597	hsa-miR-493	CLIP-seq
MIRT2003550	hsa-miR-520g	CLIP-seq
MIRT2003551	hsa-miR-520h	CLIP-seq
MIRT2003552	hsa-miR-548ah	CLIP-seq
MIRT1023615	hsa-miR-96	CLIP-seq
MIRT1023536	hsa-miR-1207-5p	CLIP-seq
MIRT2003535	hsa-miR-1267	CLIP-seq
MIRT1023537	hsa-miR-1271	CLIP-seq
MIRT2236342	hsa-miR-144	CLIP-seq
MIRT1023539	hsa-miR-15a	CLIP-seq
MIRT1023540	hsa-miR-15b	CLIP-seq
MIRT1023541	hsa-miR-16	CLIP-seq
MIRT1023542	hsa-miR-182	CLIP-seq
MIRT2236343	hsa-miR-1914	CLIP-seq
MIRT1023543	hsa-miR-195	CLIP-seq
MIRT2236344	hsa-miR-2276	CLIP-seq
MIRT1023553	hsa-miR-3132	CLIP-seq
MIRT1023555	hsa-miR-3141	CLIP-seq
MIRT1023559	hsa-miR-3202	CLIP-seq
MIRT2003538	hsa-miR-3609	CLIP-seq
MIRT2236345	hsa-miR-3612	CLIP-seq
MIRT1023561	hsa-miR-3651	CLIP-seq
MIRT1023563	hsa-miR-3656	CLIP-seq
MIRT1023567	hsa-miR-424	CLIP-seq
MIRT2236346	hsa-miR-4266	CLIP-seq
MIRT2236347	hsa-miR-4297	CLIP-seq
MIRT1023572	hsa-miR-4314	CLIP-seq
MIRT1023576	hsa-miR-4436b-3p	CLIP-seq
MIRT1023582	hsa-miR-4524	CLIP-seq
MIRT2003544	hsa-miR-455-3p	CLIP-seq
MIRT2003545	hsa-miR-4642	CLIP-seq
MIRT2236348	hsa-miR-4645-3p	CLIP-seq
MIRT2236349	hsa-miR-4695-5p	CLIP-seq
MIRT2236350	hsa-miR-4711-3p	CLIP-seq
MIRT2236351	hsa-miR-4722-3p	CLIP-seq
MIRT1023586	hsa-miR-4733-3p	CLIP-seq
MIRT1023588	hsa-miR-4747-5p	CLIP-seq
MIRT1023590	hsa-miR-4763-3p	CLIP-seq
MIRT2236352	hsa-miR-4772-3p	CLIP-seq
MIRT1023593	hsa-miR-4779	CLIP-seq
MIRT2236353	hsa-miR-488	CLIP-seq
MIRT1023598	hsa-miR-497	CLIP-seq
MIRT1023599	hsa-miR-503	CLIP-seq
MIRT2236354	hsa-miR-511	CLIP-seq
MIRT2003550	hsa-miR-520g	CLIP-seq
MIRT2003551	hsa-miR-520h	CLIP-seq
MIRT2003552	hsa-miR-548ah	CLIP-seq
MIRT2236355	hsa-miR-640	CLIP-seq
MIRT1023612	hsa-miR-646	CLIP-seq
MIRT2236356	hsa-miR-650	CLIP-seq
MIRT1023615	hsa-miR-96	CLIP-seq
MIRT1023559	hsa-miR-3202	CLIP-seq
MIRT1023561	hsa-miR-3651	CLIP-seq
MIRT1023564	hsa-miR-377	CLIP-seq
MIRT1023576	hsa-miR-4436b-3p	CLIP-seq
MIRT1023586	hsa-miR-4733-3p	CLIP-seq
MIRT1023588	hsa-miR-4747-5p	CLIP-seq
MIRT1023596	hsa-miR-4797-5p	CLIP-seq
MIRT1023605	hsa-miR-548al	CLIP-seq
MIRT1023614	hsa-miR-665	CLIP-seq
MIRT2236342	hsa-miR-144	CLIP-seq
MIRT2540086	hsa-miR-1537	CLIP-seq
MIRT1023551	hsa-miR-3117-5p	CLIP-seq
MIRT1023552	hsa-miR-3125	CLIP-seq
MIRT1023556	hsa-miR-3152-5p	CLIP-seq
MIRT2540087	hsa-miR-330-3p	CLIP-seq
MIRT2003538	hsa-miR-3609	CLIP-seq
MIRT2540088	hsa-miR-3692	CLIP-seq
MIRT2540089	hsa-miR-3713	CLIP-seq
MIRT1023564	hsa-miR-377	CLIP-seq
MIRT1023565	hsa-miR-3916	CLIP-seq
MIRT2003540	hsa-miR-3945	CLIP-seq
MIRT1023566	hsa-miR-3976	CLIP-seq
MIRT2003541	hsa-miR-4253	CLIP-seq
MIRT1023578	hsa-miR-4457	CLIP-seq
MIRT2003544	hsa-miR-455-3p	CLIP-seq
MIRT2236348	hsa-miR-4645-3p	CLIP-seq
MIRT1023583	hsa-miR-4662a-3p	CLIP-seq
MIRT2003547	hsa-miR-4760-5p	CLIP-seq
MIRT1023592	hsa-miR-4774-3p	CLIP-seq
MIRT1023596	hsa-miR-4797-5p	CLIP-seq
MIRT2003549	hsa-miR-491-3p	CLIP-seq
MIRT1023600	hsa-miR-513b	CLIP-seq
MIRT2003550	hsa-miR-520g	CLIP-seq
MIRT2003551	hsa-miR-520h	CLIP-seq
MIRT2540090	hsa-miR-548aa	CLIP-seq
MIRT2003552	hsa-miR-548ah	CLIP-seq
MIRT1023605	hsa-miR-548al	CLIP-seq
MIRT1023608	hsa-miR-580	CLIP-seq
MIRT1023610	hsa-miR-624	CLIP-seq
MIRT1023614	hsa-miR-665	CLIP-seq
MIRT2236342	hsa-miR-144	CLIP-seq
MIRT1023551	hsa-miR-3117-5p	CLIP-seq
MIRT2540087	hsa-miR-330-3p	CLIP-seq
MIRT2003538	hsa-miR-3609	CLIP-seq
MIRT2540089	hsa-miR-3713	CLIP-seq
MIRT1023564	hsa-miR-377	CLIP-seq
MIRT2003540	hsa-miR-3945	CLIP-seq
MIRT2003541	hsa-miR-4253	CLIP-seq
MIRT1023578	hsa-miR-4457	CLIP-seq
MIRT2003544	hsa-miR-455-3p	CLIP-seq
MIRT2236348	hsa-miR-4645-3p	CLIP-seq
MIRT2003547	hsa-miR-4760-5p	CLIP-seq
MIRT1023596	hsa-miR-4797-5p	CLIP-seq
MIRT2003549	hsa-miR-491-3p	CLIP-seq
MIRT1023600	hsa-miR-513b	CLIP-seq
MIRT2003550	hsa-miR-520g	CLIP-seq
MIRT2003551	hsa-miR-520h	CLIP-seq
MIRT2003552	hsa-miR-548ah	CLIP-seq
MIRT1023605	hsa-miR-548al	CLIP-seq
MIRT1023608	hsa-miR-580	CLIP-seq
MIRT1023614	hsa-miR-665	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001664	Function	G protein-coupled receptor binding	IBA
GO:0001664	Function	G protein-coupled receptor binding	IEA
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	9238049
GO:0003925	Function	G protein activity	IDA	11024015, 37991948
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	15611106
GO:0005515	Function	Protein binding	IPI	18672896, 18772143, 22056876, 22750945, 23353685, 23994616, 27265506, 34110646
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	TAS	9175863
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005794	Component	Golgi apparatus	IEA
GO:0005834	Component	Heterotrimeric G-protein complex	IBA
GO:0005886	Component	Plasma membrane	IDA	19001095
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9175863, 10633085
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	20966218
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	37991948
GO:0007206	Process	Phospholipase C-activating G protein-coupled glutamate receptor signaling pathway	IDA	8253813
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	20966218
GO:0007208	Process	Phospholipase C-activating serotonin receptor signaling pathway	IDA	37991948
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	ISS
GO:0007215	Process	Glutamate receptor signaling pathway	IBA
GO:0007218	Process	Neuropeptide signaling pathway	IDA	11024015
GO:0007596	Process	Blood coagulation	TAS	9238049
GO:0007603	Process	Phototransduction, visible light	ISS
GO:0009649	Process	Entrainment of circadian clock	ISS
GO:0009755	Process	Hormone-mediated signaling pathway	IDA	31911434
GO:0010543	Process	Regulation of platelet activation	ISS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019001	Function	Guanyl nucleotide binding	IEA
GO:0030234	Function	Enzyme regulator activity	IDA	37991948
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0034695	Process	Response to prostaglandin E	IDA	8253813
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IMP	20399743
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IMP	20399743
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0071468	Process	Cellular response to acidic pH	IDA	39753132
GO:0099524	Component	Postsynaptic cytosol	IDA	27276689
GO:0140582	Process	Adenylate cyclase-activating G protein-coupled cAMP receptor signaling pathway	IDA	35932760

MIM	HGNC	e!Ensembl
600998	4390	ENSG00000156052

P50148

Protein name

Guanine nucleotide-binding protein G(q) subunit alpha (EC 3.6.5.-) (Guanine nucleotide-binding protein alpha-q)

Protein function

Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alterna

PDB

6VU5 , 7EZM , 7F6G , 7F6H , 7F6I , 7F8W , 7W3Z , 7W40 , 7XOW , 8G59 , 8IA7 , 8IYS , 8J9N , 8JPB , 8JPC , 8JPE , 8SZG , 8UQN , 8UQO , 8XGO , 8XGS , 8Y52 , 8ZJD , 8ZJE , 9K27

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00503	G-alpha	19 → 348	G-protein alpha subunit	Domain

Tissue specificity

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). {ECO:0000269|PubMed:21923740, ECO:0000269|PubMed:8664309}.

Sequence

MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMR
IIHGSGYSDEDKRGFTKLVYQNIFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEK
VSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPAYLPTQQDVL
RVRVPTTGIIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEEKIMYSHLVDYFPEYDGPQR
DAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

Sequence length

359

Interactions

View interactions

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cardiovascular system morphology	Pathogenic	rs121913492	RCV001327979
Angioosteohypertrophic syndrome	Likely pathogenic; Pathogenic	rs397514698	RCV001526638
Capillary malformation	Pathogenic; Likely pathogenic	rs2118444312, rs397514698	RCV006254277 RCV000043593
Familial multiple nevi flammei	Pathogenic; Likely pathogenic	rs2118444312, rs1826677470, rs397514698	RCV001526533 RCV001526532 RCV003445402 RCV002294003
GNAQ-related disorder	Likely pathogenic; Pathogenic	rs397514698	RCV005229860
Hemangiomatosis	Likely pathogenic; Pathogenic	rs397514698	RCV001526543
Melanoma	Likely pathogenic; Pathogenic	rs397514698	RCV003221795
Neoplasm	Likely pathogenic; Pathogenic	rs397514698	RCV004668764
Segmental undergrowth associated with capillary malformation	Pathogenic; Likely pathogenic	rs397514698	RCV001706748 RCV001705695
Sturge-Weber syndrome	Likely pathogenic; Pathogenic	rs2118276763, rs121913492, rs397514698	RCV003458178 RCV004563306 RCV003458165 RCV000043592

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Meningeal melanocytoma	-	rs121913492	RCV006255011
Myxoid glioneuronal tumor	-	rs121913492	RCV006255012

Show/Hide Text Mining Associations (74)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis	Associate	21923740
Arthritis Rheumatoid	Inhibit	21923740
Brain Diseases	Associate	27919468
Breast Neoplasms	Associate	18705646
Carcinogenesis	Associate	30352874
Carcinoid Tumor	Associate	11581306
Carcinoma Hepatocellular	Associate	33807071
Carcinoma Non Small Cell Lung	Associate	36239568
Carcinoma Papillary	Associate	37750536
Carcinoma Renal Cell	Stimulate	30849518
Carcinoma Small Cell	Associate	37750536
Carcinoma Squamous Cell	Associate	29980281, 36780540
Central Nervous System Neoplasms	Associate	19936769, 34031065
Choroiditis	Associate	30422215, 30537484
Colonic Diseases	Associate	28179590
Colorectal Neoplasms	Associate	36129915
Congenital Abnormalities	Associate	32613723
Coronary Stenosis	Associate	37894940
Developmental Disabilities	Associate	24603971
Epidermal Nevus	Associate	37452404
Gastrointestinal Stromal Tumors	Associate	19718445
Glaucoma	Associate	33707187
Glioblastoma	Associate	37053535
Granuloma Pyogenic	Associate	26802240
Hemangioma	Associate	27058448, 28084343, 30422215, 30537484, 30601876, 31189994, 37750536
Hyperaldosteronism	Associate	34385710
Hypertension	Associate	36440997
Hypogonadism	Associate	36694982
Immunologic Deficiency Syndromes	Associate	39925840
Iris Diseases	Associate	35835335
Kidney Diseases	Stimulate	30849518
Klippel Trenaunay Weber Syndrome	Associate	32613723
Leukemia Lymphoma Adult T Cell	Associate	37832654
Leukemia Myeloid Acute	Associate	19718445
Leukemic Infiltration	Associate	37452404
Liver Neoplasms	Associate	30601876
Lung Neoplasms	Associate	11930011, 37240145
Melanoma	Associate	18719078, 19936769, 20424519, 22236444, 22536370, 22653968, 24345920, 24591764, 25030020, 26076063, 26084293, 26368812, 26743478, 27008846, 27089234 View all (11 more)
Melanoma Cutaneous Malignant	Associate	26825879, 35512098
Meningeal Neoplasms	Associate	25315378, 26769193, 32711494
Musculoskeletal Diseases	Associate	37452404
Myeloproliferative Disorder Chronic with Eosinophilia	Associate	28084343
Neoplasm Metastasis	Associate	23634288, 24423917, 27756406, 32711494, 35835335, 36780540
Neoplasms	Associate	19654573, 19936769, 22536370, 22550165, 23634288, 23778528, 25030020, 25194819, 26059332, 26497576, 26824052, 27057633, 27089234, 27476652, 28350126 View all (22 more)
Neoplasms	Inhibit	37240145
Neoplasms Vascular Tissue	Associate	32613723
Nervous System Diseases	Associate	27919468
Neurocutaneous melanosis	Associate	38254245
Neurocutaneous Syndromes	Associate	37802294
Nevus	Associate	28809862, 29371009
Nevus Blue	Associate	19654573, 20424519, 23599145, 27057633, 27934878, 28084343, 28409567, 29332123, 30601876, 35319526
Nevus Pigmented	Associate	29332123
Polycystic Ovary Syndrome	Associate	26308735
Port Wine Stain	Associate	23656586, 30537484, 30601876, 37658401
Prader Willi Syndrome	Associate	26802240
Respiratory Tract Infections	Associate	36818471
Rheumatic Diseases	Associate	29977933
Salivary Duct Calculi	Associate	32929114
Simpson Golabi Behmel syndrome	Associate	32500425
Sjogren's Syndrome	Inhibit	29977933
Spasm	Associate	35835335
Speech Disorders	Associate	24603971
Stomach Neoplasms	Associate	28350126, 31312661, 33494793
Sturge Weber Syndrome	Associate	23656586, 26957145, 27919468, 28571101, 30422215, 30537484, 30601876, 30853154, 33316689, 33707187, 35635655, 37658401, 37802294
Thrombophilia Due To Elevated Histidine Rich Glycoprotein	Associate	27058448
Thyroid Neoplasms	Associate	32737449
Upton Young syndrome	Associate	19078957, 19718445
Urinary Bladder Neoplasms	Associate	36818471
Uterine Cervical Neoplasms	Associate	38537385
Uveal melanoma	Associate	18719078, 19078957, 19654573, 19718445, 20424519, 21828154, 21945171, 22236444, 22253748, 22550165, 22653968, 22733540, 22977135, 23634288, 23778528 View all (46 more)
Uveal melanoma	Stimulate	37958718
Vascular Diseases	Associate	37750536
Vascular Malformations	Associate	28571101
Venous Malformations Multiple Cutaneous and Mucosal	Associate	37658401

GNAQ (G protein subunit alpha q)