Gene
pde6c
- ID
- ZDB-GENE-040426-1664
- Name
- phosphodiesterase 6C, cGMP-specific, cone, alpha prime
- Symbol
- pde6c Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have 3',5'-cyclic-nucleotide phosphodiesterase activity and metal ion binding activity. Involved in embryonic retina morphogenesis in camera-type eye; photoreceptor cell maintenance; and visual perception. Used to study retinal degeneration. Human ortholog(s) of this gene implicated in cone-rod dystrophy. Is expressed in head and visual system. Orthologous to human PDE6C (phosphodiesterase 6C).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 19 figures from 15 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 28 figures from 10 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Cone dystrophy 4 | 613093 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
retinal degeneration | pde6cw59/w59 | standard conditions | (3) |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR023174 | 3'5'-cyclic nucleotide phosphodiesterase, conserved site |
Domain | IPR002073 | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain |
Domain | IPR003018 | GAF domain |
Domain | IPR003607 | HD/PDEase domain |
Family | IPR023088 | 3'5'-cyclic nucleotide phosphodiesterase |
Homologous_superfamily | IPR029016 | GAF-like domain superfamily |
Homologous_superfamily | IPR036971 | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain superfamily |
Domain Details Per Protein
Protein | Length | 3'5'-cyclic nucleotide phosphodiesterase | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain superfamily | 3'5'-cyclic nucleotide phosphodiesterase, conserved site | GAF domain | GAF-like domain superfamily | HD/PDEase domain |
---|---|---|---|---|---|---|---|---|
UniProtKB:Q6P4P8
|
852 |
Interactions and Pathways
No data available
Plasmids
No data available