• Gene id: 2780

Gene Summary

• Gene Symbol: GNAT2   Gene   UCSC   Ensembl
• Aliases: ACHM4, GNATC
• Gene name: G protein subunit alpha transducin 2
• Alternate names: guanine nucleotide-binding protein G(t) subunit alpha-2, cone-type transducin alpha subunit, guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2, transducin alpha-2 chain, transducin, cone-specific, alpha polypeptide,
• Gene location: 1p13.3 (82986175: 82836945)     Exons: 14     NC_000015.10
• Gene summary(Entrez): Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene
• OMIM: 139340

Protein Summary

• Protein general information: P19087  
  • Name: Guanine nucleotide binding protein G(t) subunit alpha 2 (Transducin alpha 2 chain)
  • Length: 354  
  • Mass: 40176
  • Tissue specificity: Retinal rod outer segment.
• Sequence:

  MGSGASAEDKELAKRSKELEKKLQEDADKEAKTVKLLLLGAGESGKSTIVKQMKIIHQDGYSPEECLEFKAIIYG
  NVLQSILAIIRAMTTLGIDYAEPSCADDGRQLNNLADSIEEGTMPPELVEVIRRLWKDGGVQACFERAAEYQLND
  SASYYLNQLERITDPEYLPSEQDVLRSRVKTTGIIETKFSVKDLNFRMFDVGGQRSERKKWIHCFEGVTCIIFCA
  ALSAYDMVLVEDDEVNRMHESLHLFNSICNHKFFAATSIVLFLNKKDLFEEKIKKVHLSICFPEYDGNNSYDDAG
  NYIKSQFLDLNMRKDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF

• Structural information:
  • Protein Domains: (32..35-)
    (/note="G-alpha-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01230"-)
  • Interpro: IPR001408  IPR001019  IPR011025  IPR027417  
  • Prosite: PS51882
  • CDD: cd00066
  • PDB: 6N84 6N85
  • PDBsum: 6N84 6N85
  • STRING: ENSP00000251337
• Other Databases: GeneCards:  GNAT2  Malacards:  GNAT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001580	detection of chemical stimulus involved in sensory perception of bitter taste	IBA	biological process
GO:0001750	photoreceptor outer segment	IBA	cellular component
GO:0001917	photoreceptor inner segment	IBA	cellular component
GO:0005834	heterotrimeric G-protein complex	IBA	cellular component
GO:0031683	G-protein beta/gamma-subunit complex binding	IBA	molecular function
GO:0001664	G protein-coupled receptor binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	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:0050896	response to stimulus	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
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:0007223	Wnt signaling pathway, calcium modulating pathway	TAS	biological process
GO:0006457	protein folding	TAS	biological process
GO:0007601	visual perception	IEA	biological process
GO:0009642	response to light intensity	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001580	detection of chemical stimulus involved in sensory perception of bitter taste	IEA	biological process
GO:0050908	detection of light stimulus involved in visual perception	IEA	biological process
GO:0046549	retinal cone cell development	IEA	biological process
GO:0007602	phototransduction	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0050908	detection of light stimulus involved in visual perception	IMP	biological process
GO:0042622	photoreceptor outer segment membrane	ISS	cellular component
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0007602	phototransduction	NAS	biological process
GO:0007601	visual perception	NAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	NAS	biological process
GO:0008020	G protein-coupled photoreceptor activity	NAS	molecular function
GO:0005525	GTP binding	NAS	molecular function
GO:0005834	heterotrimeric G-protein complex	NAS	cellular component
GO:0005834	heterotrimeric G-protein complex	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04744	Phototransduction

Diseases

Associated diseases	References
Achromatopsia	KEGG:H00971
Achromatopsia	KEGG:H00971
color blindness	PMID:12077706
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)