GNAT2 (G protein subunit alpha transducin 2)

2006-10-01  

Identity

HGNC
GNAT2
LOCATION
1p13.3
LOCUSID
2780
ALIAS
ACHM4,GNATC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2780
MIM: 139340
HGNC: 4394
Ensembl: ENSG00000134183

Variants:

dbSNP: 2780
ClinVar: 2780
TCGA: ENSG00000134183
COSMIC: GNAT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134183ENST00000351050P19087
ENSG00000134183ENST00000351050Q5T697
ENSG00000134183ENST00000622865A0A087WZE5

Pathways

PathwaySourceExternal ID
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Opioid SignallingREACTOMER-HSA-111885
G-protein activationREACTOMER-HSA-202040
G-protein mediated eventsREACTOMER-HSA-112040
PLC beta mediated eventsREACTOMER-HSA-112043
Signaling by WntREACTOMER-HSA-195721
Beta-catenin independent WNT signalingREACTOMER-HSA-3858494
Ca2+ pathwayREACTOMER-HSA-4086398
Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta foldingREACTOMER-HSA-6814122

References

Pubmed IDYearTitleCitations
235636072013Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.229
120777062002Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.72
195921002009Genetic etiology and clinical consequences of complete and incomplete achromatopsia.37
206033372010Replacing the rod with the cone transducin subunit decreases sensitivity and accelerates response decay.21
233628482013Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.5
211073382011Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.2
150947102004A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.1
212670012011Clinical utility gene card for: achromatopsia.0
310584292019Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.0

Citation

Dessen P

GNAT2 (G protein subunit alpha transducin 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43282/gnat2