Gene
pde6ha.1
- ID
- ZDB-GENE-040426-1754
- Name
- phosphodiesterase 6H, cGMP-specific, cone, gamma, paralog a, duplicate 1
- Symbol
- pde6ha.1 Nomenclature History
- Previous Names
-
- pde6h
- pde6ha
- zgc:73310
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- 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 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
-
- Alliance (1)
- Gene:393758 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 12 figures from 9 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 | Additional Resources | Length | Retinal cGMP phosphodiesterase, gamma subunit | Retinal cGMP phosphodiesterase, gamma subunit superfamily |
|---|---|---|---|---|
| UniProtKB:Q6PBP4 | InterPro | 73 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance