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 enable 3',5'-cyclic-GMP phosphodiesterase activity and cGMP binding activity. Predicted to be involved in positive regulation of G protein-coupled receptor signaling pathway and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to act upstream of or within visual perception. Predicted to be active in photoreceptor outer segment membrane. Is expressed in eye; retina; and retinal cone cell. Human ortholog(s) of this gene implicated in retinal cone dystrophy 3A. 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