Gene
prph2a
- ID
- ZDB-GENE-000616-8
- Name
- peripherin 2a (retinal degeneration, slow)
- Symbol
- prph2a Nomenclature History
- Previous Names
-
- rds2
- zgc:92295
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to be involved in visual perception. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; eye degenerative disease (multiple); and fundus albipunctatus. Orthologous to human PRPH2 (peripherin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 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 |
|---|---|---|---|
| fundus albipunctatus | Alliance | Retinitis punctata albescens | 136880 |
| partial central choroid dystrophy | Alliance | Choroidal dystrophy, central areolar 2 | 613105 |
| patterned macular dystrophy 1 | Alliance | Macular dystrophy, patterned, 1 | 169150 |
| retinitis pigmentosa 7 | Alliance | Leber congenital amaurosis 18 | 608133 |
| retinitis pigmentosa 7 | Alliance | Retinitis pigmentosa 7 and digenic form | 608133 |
| vitelliform macular dystrophy | Alliance | Macular dystrophy, vitelliform, 3 | 608161 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Peripherin, extracellular domain | Peripherin/rom-1 | Peripherin/rom-1, conserved site | Tetraspanin, EC2 domain superfamily | Tetraspanin/Peripherin |
|---|---|---|---|---|---|---|
|
UniProtKB:Q66HW7
|
345 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
prph2a-201
(1)
|
Ensembl | 2,484 nt |
Interactions and Pathways
No data available
Plasmids
No data available