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. 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
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With prph2a Human Ortholog
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
Associated With prph2a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018498 Peripherin/rom-1, conserved site
Domain IPR042026 Peripherin, extracellular domain
Family IPR000830 Peripherin/rom-1
Family IPR018499 Tetraspanin/Peripherin
Homologous_superfamily IPR008952 Tetraspanin, EC2 domain superfamily
Domain Details Per Protein
Protein Length Peripherin, extracellular domain Peripherin/rom-1 Peripherin/rom-1, conserved site Tetraspanin, EC2 domain superfamily Tetraspanin/Peripherin
UniProtKB:Q9IAB8 120
UniProtKB:Q66HW7 345
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations