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 enable all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity; beta-carotene 15,15'-dioxygenase activity; and retinol isomerase activity. Predicted to be involved in retinal metabolic process and zeaxanthin biosynthetic process. Predicted to be located in 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; retinitis pigmentosa 20; and retinitis pigmentosa 87. 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
rpe65b-201
(1)
|
Ensembl | 1,945 nt | ||
| mRNA |
rpe65b-202
(1)
|
Ensembl | 1,599 nt |
Interactions and Pathways
No data available
Plasmids
No data available