GNAQ (G protein subunit alpha q)

Gene

• Entrez ID: 2776
• Gene name: G protein subunit alpha q
• Gene symbol: GNAQ
• Synonyms: CMC1, G-ALPHA-q, GAQ, SWS
• 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 in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

SNPs

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

miRNA

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
MIRT562272	hsa-miR-5589-3p	PAR-CLIP	20371350
MIRT562273	hsa-miR-653-5p	PAR-CLIP	20371350
MIRT562274	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT562275	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT562276	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT562277	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT562278	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT562279	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT612950	hsa-miR-5579-3p	HITS-CLIP	23824327
MIRT612951	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT612952	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT612953	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT612954	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT614976	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT614976	hsa-miR-129-5p	PAR-CLIP	26701625
MIRT614976	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT614976	hsa-miR-129-5p	HITS-CLIP	28735896
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT614977	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	27418678
MIRT614977	hsa-miR-6885-3p	HITS-CLIP	28735896
MIRT614978	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT614978	hsa-miR-767-5p	PAR-CLIP	26701625
MIRT614978	hsa-miR-767-5p	HITS-CLIP	27418678
MIRT614978	hsa-miR-767-5p	HITS-CLIP	28735896
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	23824327
MIRT614979	hsa-miR-3130-3p	PAR-CLIP	26701625
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	27418678
MIRT614979	hsa-miR-3130-3p	HITS-CLIP	28735896
MIRT741906	hsa-miR-3653-3p	PAR-CLIP	26701625
MIRT741941	hsa-miR-3658	PAR-CLIP	26701625
MIRT745670	hsa-miR-4511	PAR-CLIP	26701625
MIRT750656	hsa-miR-548b-3p	PAR-CLIP	26701625
MIRT790634	hsa-miR-4775	HITS-CLIP	28735896
MIRT790797	hsa-miR-590-3p	HITS-CLIP	28735896

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA	21873635
GO:0001664	Function	G protein-coupled receptor binding	IBA	21873635
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005096	Function	GTPase activator activity	IBA	21873635
GO:0005096	Function	GTPase activator activity	IDA	15611106
GO:0005515	Function	Protein binding	IPI	18672896, 18772143, 22056876, 22750945, 23353685, 23994616, 27265506
GO:0005525	Function	GTP binding	IEA
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	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006469	Process	Negative regulation of protein kinase activity	IMP	20399743
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007202	Process	Activation of phospholipase C activity	TAS	8825633
GO:0007213	Process	G protein-coupled acetylcholine receptor signaling pathway	ISS
GO:0007215	Process	Glutamate receptor signaling pathway	IBA	21873635
GO:0007596	Process	Blood coagulation	TAS	9238049
GO:0007603	Process	Phototransduction, visible light	ISS
GO:0009649	Process	Entrainment of circadian clock	ISS
GO:0030168	Process	Platelet activation	TAS
GO:0031683	Function	G-protein beta/gamma-subunit complex binding	IBA	21873635
GO:0031826	Function	Type 2A serotonin receptor binding	IBA	21873635
GO:0031965	Component	Nuclear membrane	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0045202	Component	Synapse	IEA
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

Other IDs

• MIM: 600998
• HGNC: 4390
• e!Ensembl: ENSG00000156052

Protein

• UniProt ID: P50148
• Protein name: Guanine nucleotide-binding protein G(q) subunit alpha (Guanine nucleotide-binding protein alpha-q)
• Protein 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). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs).
• PDB: 6VU5
• Family and domains:

  Pfam

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

• Sequence:

  MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMR
  IIHGSGYSDEDKRGFTKLVYQNIFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEK
  VSAFENPYVDAIKSLWNDPGIQECYDRRREYQLSDSTKYYLNDLDRVADPAYLPTQQDVL
  RVRVPTTGIIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFLVALSEYDQVLV
  ESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEEKIMYSHLVDYFPEYDGPQR
  DAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

• Sequence length: 359