Gene
rd3
- ID
- ZDB-GENE-040724-103
- Name
- retinal degeneration 3, GUCY2D regulator
- Symbol
- rd3 Nomenclature History
- Previous Names
-
- si:dkey-249p7.1 (1)
- zgc:158792
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Leber congenital amaurosis 12; and retinal degeneration. Orthologous to human RD3 (retinal degeneration 3, GUCY2D regulator).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 12 | Alliance | Leber congenital amaurosis 12 | 610612 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR028092 | Retinal degeneration protein 3 |
Domain Details Per Protein
| Protein | Length | Retinal degeneration protein 3 |
|---|---|---|
|
UniProtKB:A1L2C8
|
215 |
Interactions and Pathways
No data available
Plasmids
No data available