• Gene id: 2793

Gene Summary

• Gene Symbol: GNGT2   Gene   UCSC   Ensembl
• Aliases: G-GAMMA-8, G-GAMMA-C, GNG8, GNG9, GNGT8
• Gene name: G protein subunit gamma transducin 2
• Alternate names: guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2, G protein cone gamma 8 subunit, G-gamma-9, g gamma-C, gamma-T2 subunit, guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2, guanine nucleotide binding prot,
• Gene location: 17q21.32 (49210573: 49206233)     Exons: 5     NC_000017.11
• Gene summary(Entrez): Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. S
• OMIM: 300541

Protein Summary

• Protein general information: O14610  
  • Name: Guanine nucleotide binding protein G(I)/G(S)/G(O) subunit gamma T2 (G gamma C) (G gamma 8) (G gamma 9) (Guanine nucleotide binding protein gamma transducing activity polypeptide 2)
  • Length: 69  
  • Mass: 7747
  • Tissue specificity: Retinal cones.
• Sequence:

  MAQDLSEKDLLKMEVEQLKKEVKNTRIPISKAGKEIKEYVEAQAGNDPFLKGIPEDKNPFKEKGGCLIS

• Structural information:
  • Interpro: IPR015898  IPR036284  IPR001770  
  • Prosite: PS50058
  • CDD: cd00068
  • STRING: ENSP00000426022
• Other Databases: GeneCards:  GNGT2  Malacards:  GNGT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031681	G-protein beta-subunit binding	IBA	molecular function
GO:0031680	G-protein beta/gamma-subunit complex	IBA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005834	heterotrimeric G-protein complex	IEA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003924	GTPase activity	IDA	molecular function
GO:0005834	heterotrimeric G-protein complex	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007602	phototransduction	NAS	biological process
GO:0005834	heterotrimeric G-protein complex	NAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	NAS	biological process
GO:0003924	GTPase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa04014	Ras signaling pathway
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa05034	Alcoholism
hsa05170	Human immunodeficiency virus 1 infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04723	Retrograde endocannabinoid signaling
hsa04371	Apelin signaling pathway
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa04926	Relaxin signaling pathway
hsa04725	Cholinergic synapse
hsa04726	Serotonergic synapse
hsa05032	Morphine addiction
hsa04727	GABAergic synapse
hsa04713	Circadian entrainment

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R