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 protein localization to plasma membrane and protein maturation. Predicted to act upstream of or within visual perception. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in retina. 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