Gene
gnat2
- ID
- ZDB-GENE-011128-10
- Name
- guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
- Symbol
- gnat2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have G protein-coupled receptor binding activity; G-protein beta/gamma-subunit complex binding activity; and GTPase activity. Involved in detection of light stimulus involved in visual perception. Predicted to localize to heterotrimeric G-protein complex. Used to study achromatopsia and cone-rod dystrophy. Human ortholog(s) of this gene implicated in achromatopsia 4 and color blindness. Is expressed in pineal complex and visual system. Orthologous to several human genes including GNAT2 (G protein subunit alpha transducin 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 51 figures from 35 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Phenotype Annotation (1994-2006)
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
achromatopsia 4 | Alliance | Achromatopsia 4 | 613856 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
cone-rod dystrophy | gnat2w21/w21 (AB) | standard conditions | Brockerhoff et al., 2003 |
achromatopsia | gnat2w21/w21 (AB) | standard conditions | Kennedy et al., 2007 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR001019 | Guanine nucleotide binding protein (G-protein), alpha subunit |
Family | IPR001408 | G-protein alpha subunit, group I |
Homologous_superfamily | IPR011025 | G protein alpha subunit, helical insertion |
Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
Domain Details Per Protein
Protein | Length | G-protein alpha subunit, group I | G protein alpha subunit, helical insertion | Guanine nucleotide binding protein (G-protein), alpha subunit | P-loop containing nucleoside triphosphate hydrolase |
---|---|---|---|---|---|
UniProtKB:Q90WX5
|
354 |
Interactions and Pathways
No data available
Plasmids
No data available