Gene
rpe65b
- ID
- ZDB-GENE-050410-16
- Name
- retinoid isomerohydrolase RPE65 b
- Symbol
- rpe65b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity and retinol isomerase activity. Predicted to be involved in retinoid metabolic process and zeaxanthin biosynthetic process. Predicted to localize to endoplasmic reticulum membrane. Is expressed in ectoderm; mandibular arch skeleton; nervous system; neural crest cell; and pectoral fin. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; and retinitis pigmentosa 20. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 4 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 |
|---|---|---|---|
| Leber congenital amaurosis 2 | Alliance | Leber congenital amaurosis 2 | 204100 |
| retinitis pigmentosa 20 | Alliance | Retinitis pigmentosa 20 | 613794 |
| retinitis pigmentosa 87 | Alliance | Retinitis pigmentosa 87 with choroidal involvement | 618697 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR004294 | Carotenoid oxygenase |
Domain Details Per Protein
| Protein | Length | Carotenoid oxygenase |
|---|---|---|
|
UniProtKB:A9C3R9
|
532 | |
|
UniProtKB:A0A8M9QID4
|
333 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
rpe65b-201
(1)
|
Havana | 1945 nt | |
| mRNA |
rpe65b-202
(1)
|
Ensembl | 1599 nt |
Interactions and Pathways
No data available
Plasmids
No data available