Gene
pde6b
- ID
- ZDB-GENE-090421-2
- Name
- phosphodiesterase 6B, cGMP-specific, rod, beta
- Symbol
- pde6b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have 3',5'-cyclic-GMP phosphodiesterase activity. Predicted to be involved in G protein-coupled receptor signaling pathway; regulation of cytosolic calcium ion concentration; and retina development in camera-type eye. Human ortholog(s) of this gene implicated in congenital stationary night blindness autosomal dominant 2 and retinitis pigmentosa 40. Is expressed in eye; retinal neural layer; and retinal photoreceptor layer. Orthologous to human PDE6B (phosphodiesterase 6B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 7 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 |
|---|---|---|---|
| congenital stationary night blindness autosomal dominant 2 | Alliance | Night blindness, congenital stationary, autosomal dominant 2 | 163500 |
| retinitis pigmentosa 40 | Alliance | Retinitis pigmentosa-40 | 613801 |
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:E7F5I9
|
854 |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-pde6b | polyclonal | IgG | Rabbit |
|
Proteintech
|
3 |
Plasmids
No data available