AlphaFold predicted structure
GNAT2 · P19087
Mean pLDDT
94.0/ 100
Very high
354 residues
Confidence breakdown
- Very high(≥ 90)88%
- Confident(70–90)9%
- Low(50–70)2%
- Very low(< 50)1%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
GNAT2
Chr 1p13.3G protein subunit alpha transducin 2
- Aliases:
- ACHM4
- MANE:
- ENST00000679935.1
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
achromatopsia
0.76Retinal dystrophy
0.49cone dystrophy
0.43Progressive cone dystrophy
0.39eye disorder
0.37Abnormality of the eye
0.26hereditary disease
0.19metabolic dysfunction-associated steatotic liver disease
0.19obesity disorder
0.10retinitis pigmentosa
0.10
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Guanine nucleotide-binding protein G(t) subunit alpha-2
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase
Diseases associated with GNAT2
Curated MONDO disease pages that list GNAT2 among their top associated genes.