Entity Details

Primary name GNAT2
Entity type gene
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Details

PrimaryID2780
RefseqGeneNG_009099
SymbolGNAT2
NameG protein subunit alpha transducin 2
Chromosome1
Location1p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1992-12-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGNAT2_HUMAN

GO terms

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GOName
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste
GO:0001664 G protein-coupled receptor binding
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0003924 GTPase activity
GO:0005525 GTP binding
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0006457 protein folding
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway
GO:0007223 Wnt signaling pathway, calcium modulating pathway
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0008020 G protein-coupled photoreceptor activity
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0042622 photoreceptor outer segment membrane
GO:0046872 metal ion binding
GO:0050908 detection of light stimulus involved in visual perception

Diseases

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Disease IDSourceNameDescription
613856 OMIMAchromatopsia 4 (ACHM4)An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. The disease is caused by variants affecting the gene represented in this entry.