GNAT2 Chromosome 1
G protein subunit alpha transducin 2
Upload your DNA to see your personal genotypes for variants in GNAT2.
What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
G protein subunits alpha, group i
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000134183
Associated Conditions (8)
Achromatopsia 4
Inborn genetic diseases
GNAT2-related disorder
Retinal dystrophy
Hepatocellular carcinoma
Cone dystrophy
Abnormality of the eye
Achromatopsia
Key Variants
RS140250745
Conflicting classifications of pathogenicity
Achromatopsia 4, Achromatopsia 4
Health Risk
RS149421007
Conflicting classifications of pathogenicity
Achromatopsia 4, Inborn genetic diseases, Achromatopsia 4
Health Risk
RS1649516067
Conflicting classifications of pathogenicity
Achromatopsia 4, Achromatopsia 4
Health Risk
RS192176115
Conflicting classifications of pathogenicity
Achromatopsia 4, Achromatopsia 4
Health Risk
RS199503029
Conflicting classifications of pathogenicity
Achromatopsia 4, Achromatopsia 4
Health Risk
RS200883344
Conflicting classifications of pathogenicity
Achromatopsia 4, Achromatopsia 4
Health Risk
RS201230566
Conflicting classifications of pathogenicity
Achromatopsia 4, Achromatopsia 4
Health Risk
RS34723289
Conflicting classifications of pathogenicity
Achromatopsia 4, Achromatopsia 4
Health Risk
RS397515384
Conflicting classifications of pathogenicity
Achromatopsia 4, Achromatopsia 4
Health Risk
RS41280330
Conflicting classifications of pathogenicity
Achromatopsia 4, GNAT2-related disorder, Retinal dystrophy
Health Risk
RS551776784
Conflicting classifications of pathogenicity
Achromatopsia 4, Hepatocellular carcinoma, Achromatopsia 4
Health Risk
RS577261001
Conflicting classifications of pathogenicity
Achromatopsia 4, Achromatopsia 4
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140250745 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS149421007 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Inborn genetic diseases, Achromatopsia 4 |
| RS1649516067 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS192176115 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS199503029 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS200883344 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS201230566 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS34723289 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS397515384 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS41280330 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, GNAT2-related disorder, Retinal dystrophy |
| RS551776784 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Hepatocellular carcinoma, Achromatopsia 4 |
| RS577261001 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS757147586 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Cone dystrophy, Achromatopsia 4 |
| RS772538094 | Health Risk | Conflicting classifications of pathogenicity | Achromatopsia 4, Achromatopsia 4 |
| RS146606352 | Health Risk | Likely pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS1553226355 | Health Risk | Likely pathogenic | Abnormality of the eye, Abnormality of the eye |
| RS1553226581 | Health Risk | Likely pathogenic | — |
| RS1557918544 | Health Risk | Likely pathogenic | Achromatopsia 4, Retinal dystrophy, Achromatopsia 4 |
| RS1557918635 | Health Risk | Likely pathogenic | Achromatopsia 4, Retinal dystrophy, Achromatopsia 4 |
| RS1570565168 | Health Risk | Likely pathogenic | — |
| RS1649583816 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2524344930 | Health Risk | Likely pathogenic | — |
| RS2524348349 | Health Risk | Likely pathogenic | — |
| RS121434585 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS1234568897 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1266550019 | Health Risk | Pathogenic | — |
| RS1403825722 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS1462934469 | Health Risk | Pathogenic | — |
| RS1557917535 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS1557917899 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS1557918619 | Health Risk | Pathogenic | Achromatopsia 4, Cone dystrophy, Achromatopsia 4 |
| RS1557918638 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia, Achromatopsia 4 |
| RS1557918911 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS1557920291 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS1570562309 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS2101121827 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS2524338495 | Health Risk | Pathogenic | — |
| RS2524338502 | Health Risk | Pathogenic | — |
| RS745308973 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia, Achromatopsia 4 |
| RS748981899 | Health Risk | Pathogenic | Achromatopsia 4, Achromatopsia 4 |
| RS765367881 | Health Risk | Pathogenic | — |
| RS768086755 | Health Risk | Pathogenic | — |
| RS769421063 | Health Risk | Pathogenic | — |