Gene
pde6d
- ID
- ZDB-GENE-040718-463
- Name
- phosphodiesterase 6D, cGMP-specific, rod, delta
- Symbol
- pde6d Nomenclature History
- Previous Names
-
- zgc:92605 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have 3',5'-cyclic-nucleotide phosphodiesterase activity. Involved in eye development and kidney development. Predicted to localize to cytoplasmic vesicle membrane; cytoskeleton; and cytosol. Human ortholog(s) of this gene implicated in Joubert syndrome 22. Is expressed in epiphysis; olfactory bulb; olfactory placode; and retina. Orthologous to human PDE6D (phosphodiesterase 6D).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92605 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Thomas et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 22 | Alliance | Joubert syndrome 22 | 615665 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR008015 | GMP phosphodiesterase, delta subunit |
| Family | IPR017287 | Retinal rod rhodopsin-sensitive cGMP 3', 5'-cyclic phosphodiesterase, delta subunit |
| Homologous_superfamily | IPR014756 | Immunoglobulin E-set |
| Homologous_superfamily | IPR037036 | GMP phosphodiesterase, delta subunit superfamily |
Domain Details Per Protein
| Protein | Length | GMP phosphodiesterase, delta subunit | GMP phosphodiesterase, delta subunit superfamily | Immunoglobulin E-set | Retinal rod rhodopsin-sensitive cGMP 3', 5'-cyclic phosphodiesterase, delta subunit |
|---|---|---|---|---|---|
|
UniProtKB:Q6DH83
|
150 |
Interactions and Pathways
No data available
Plasmids
No data available