Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2780
MIM: 139340
HGNC: 4394
Ensembl: ENSG00000134183
Variants:
dbSNP: 2780
ClinVar: 2780
TCGA: ENSG00000134183
COSMIC: GNAT2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000134183 | ENST00000351050 | P19087 |
| ENSG00000134183 | ENST00000351050 | Q5T697 |
| ENSG00000134183 | ENST00000622865 | A0A087WZE5 |
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32203983 | 2020 | Photoreceptor Structure in GNAT2-Associated Achromatopsia. | 17 |
| 32203983 | 2020 | Photoreceptor Structure in GNAT2-Associated Achromatopsia. | 17 |
| 31058429 | 2019 | Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. | 11 |
| 31058429 | 2019 | Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. | 11 |
| 23362848 | 2013 | Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. | 8 |
| 23563607 | 2013 | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. | 323 |
| 23362848 | 2013 | Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. | 8 |
| 23563607 | 2013 | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. | 323 |
| 21107338 | 2011 | Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. | 5 |
| 21267001 | 2011 | Clinical utility gene card for: achromatopsia. | 0 |
| 21107338 | 2011 | Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. | 5 |
| 21267001 | 2011 | Clinical utility gene card for: achromatopsia. | 0 |
| 20603337 | 2010 | Replacing the rod with the cone transducin subunit decreases sensitivity and accelerates response decay. | 28 |
| 20603337 | 2010 | Replacing the rod with the cone transducin subunit decreases sensitivity and accelerates response decay. | 28 |
| 19592100 | 2009 | Genetic etiology and clinical consequences of complete and incomplete achromatopsia. | 57 |
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
