Guanine Nucleotide-Binding Protein, Alpha-Transducing Activity Polypeptide 2

Alternative Names

GNAT2
G Protein, Alpha-Transducing 2
Transducin, Cone-Specific, Alpha Polypeptide

Length

16,526 bases

No. of Exons

No. of isoforms

Protein Name

Guanine nucleotide-binding protein G(t) subunit alpha-2

Molecular Mass

40176 Da

Amino Acid Count

354

Genomic Location

chr1:109,603,090-109,619,615

Gene Map Locus

1p13.3

Description

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 encodes the alpha subunit in cones. [From RefSeq]

Epidemiology in the Arab World

View Map

United Arab Emirates

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_005272.5:c.481C>T	United Arab Emirates	NC_000001.11:g.109606417G>A	Pathogenic	Likely Pathogenic	Achromatopsia 4	NG_009099.1:g.11667C>T; NM_005272.5:c.481C>T; NP_005263.1:p.Arg161Ter	745308973	522772

Download Table

External Links

https://medlineplus.gov/genetics/gene/gnat2/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=gnat2

Contributors

Asha Deepthi: 20.05.2021

Edit History

Asha Deepthi: 20.05.2021

Back to search Result