Gene
pde6ha
- ID
- ZDB-GENE-040426-1754
- Name
- phosphodiesterase 6H, cGMP-specific, cone, gamma, paralog a
- Symbol
- pde6ha Nomenclature History
- Previous Names
-
- pde6h
- zgc:73310
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have 3',5'-cyclic-nucleotide phosphodiesterase activity and cGMP binding activity. Predicted to be involved in activation of MAPK activity; positive regulation of G protein-coupled receptor signaling pathway; and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to localize to photoreceptor outer segment membrane. Is expressed in eye; retina; and retinal cone cell. Orthologous to human PDE6H (phosphodiesterase 6H).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| retinal cone dystrophy 3A | Alliance | Achromatopsia 6 | 610024 |
| retinal cone dystrophy 3A | Alliance | Retinal cone dystrophy 3 | 610024 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Retinal cGMP phosphodiesterase, gamma subunit | Retinal cGMP phosphodiesterase, gamma subunit superfamily |
|---|---|---|---|
|
UniProtKB:Q6PBP4
|
73 |
- Genome Browsers
- No data available
Interactions and Pathways
No data available
Plasmids
No data available