• Gene id: 2776

Gene Summary

• Gene Symbol: GNAQ   Gene   UCSC   Ensembl
• Aliases: CMC1, G-ALPHA-q, GAQ, SWS
• Gene name: G protein subunit alpha q
• Alternate names: guanine nucleotide-binding protein G(q) subunit alpha, epididymis secretory sperm binding protein, guanine nucleotide binding protein (G protein), q polypeptide, guanine nucleotide-binding protein alpha-q,
• Gene location: 9q21.2 (78031810: 77716096)     Exons: 8     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 614355

Protein Summary

• Protein general information: P50148  
  • Name: Guanine nucleotide binding protein G(q) subunit alpha (Guanine nucleotide binding protein alpha q)
  • Length: 359  
  • Mass: 42142
  • 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
• Sequence:

  MTLESIMACCLSEEAKEARRINDEIERQLRRDKRDARRELKLLLLGTGESGKSTFIKQMRIIHGSGYSDEDKRGF
  TKLVYQNIFTAMQAMIRAMDTLKIPYKYEHNKAHAQLVREVDVEKVSAFENPYVDAIKSLWNDPGIQECYDRRRE
  YQLSDSTKYYLNDLDRVADPAYLPTQQDVLRVRVPTTGIIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTS
  IMFLVALSEYDQVLVESDNENRMEESKALFRTIITYPWFQNSSVILFLNKKDLLEEKIMYSHLVDYFPEYDGPQR
  DAQAAREFILKMFVDLNPDSDKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

• Structural information:
  • Protein Domains: (38..35-)
    (/note="G-alpha-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01230"-)
  • Interpro: IPR000654  IPR001019  IPR011025  IPR027417  
  • Prosite: PS51882
  • CDD: cd00066
  • DIP: 41652
  • STRING: ENSP00000286548
• Other Databases: GeneCards:  GNAQ  Malacards:  GNAQ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0060158	phospholipase C-activating dopamine receptor signaling pathway	IBA	biological process
GO:0031826	type 2A serotonin receptor binding	IBA	molecular function
GO:0007215	glutamate receptor signaling pathway	IBA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0003924	GTPase activity	IBA	molecular function
GO:0001664	G protein-coupled receptor binding	IBA	molecular function
GO:0001508	action potential	IBA	biological process
GO:0031683	G-protein beta/gamma-subunit complex binding	IBA	molecular function
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001664	G protein-coupled receptor binding	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0019001	guanyl nucleotide binding	IEA	molecular function
GO:0031683	G-protein beta/gamma-subunit complex binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007202	activation of phospholipase C activity	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0007603	phototransduction, visible light	ISS	biological process
GO:0009649	entrainment of circadian clock	ISS	biological process
GO:0009649	entrainment of circadian clock	ISS	biological process
GO:0007603	phototransduction, visible light	ISS	biological process
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	ISS	biological process
GO:0007213	G protein-coupled acetylcholine receptor signaling pathway	ISS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050821	protein stabilization	IMP	biological process
GO:0006469	negative regulation of protein kinase activity	IMP	biological process
GO:0060828	regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa04015	Rap1 signaling pathway
hsa05163	Human cytomegalovirus infection
hsa04020	Calcium signaling pathway
hsa05170	Human immunodeficiency virus 1 infection
hsa04022	cGMP-PKG signaling pathway
hsa04723	Retrograde endocannabinoid signaling
hsa05017	Spinocerebellar ataxia
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04934	Cushing syndrome
hsa04921	Oxytocin signaling pathway
hsa04371	Apelin signaling pathway
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04270	Vascular smooth muscle contraction
hsa04611	Platelet activation
hsa04071	Sphingolipid signaling pathway
hsa04725	Cholinergic synapse
hsa04935	Growth hormone synthesis, secretion and action
hsa04915	Estrogen signaling pathway
hsa04726	Serotonergic synapse
hsa04922	Glucagon signaling pathway
hsa04916	Melanogenesis
hsa04713	Circadian entrainment
hsa04925	Aldosterone synthesis and secretion
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04972	Pancreatic secretion
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04970	Salivary secretion
hsa04912	GnRH signaling pathway
hsa04911	Insulin secretion
hsa05142	Chagas disease
hsa04540	Gap junction
hsa05146	Amoebiasis
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa04720	Long-term potentiation
hsa04924	Renin secretion
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04927	Cortisol synthesis and secretion
hsa04929	GnRH secretion
hsa04730	Long-term depression
hsa05143	African trypanosomiasis

Diseases

Associated diseases	References
Sturge-Weber syndrome	KEGG:H01809
Sturge-Weber syndrome	KEGG:H01809
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq