ZFIN ID: ZDB-GENE-000616-8
Gene Name: peripherin 2a (retinal degeneration, slow)
Gene Symbol: prph2a    Nomenclature History

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Previous Names: rds2, zgc:92295

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(Including Attributions)
Gene 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: Alliance (1),  Gene:58085 (1),  Ensembl(GRCz11):ENSDARG00000038018 (2)
GENE EXPRESSION
All Expression Data: 2 figures from 2 publications
Wild-type Stages, Structures: Larval:Protruding-mouth (72.0h-96.0h, 3.5mm) to Juvenile:Days 45-89 (45d-90d, 14 mm, 12 teeth)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa18634 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa35349 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • PHENOTYPE No data available
    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 and digenic form 608133
    vitelliform macular dystrophy Alliance Macular dystrophy, vitelliform, 3 608161
    DISEASE ASSOCIATED WITH prph2a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process visual perception (more)
    Cellular Component integral component of membrane (more)
    GO Terms (all 4)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA prph2a-201 (1)    Ensembl 2484
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM prph2a No data available
    MARKER RELATIONSHIPS
    prph2a Contained in: [BAC] DKEY-21C1 (1) (order this), DKEY-21E13 (1) (order this)
    prph2a Encodes: [cDNA] MGC:92295 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_131566 (1) 2456 nt
    Genomic GenBank:CR854979 (1) 207513 nt Blast at MegaBLAST
    Polypeptide UniProtKB:Q66HW7 (1) 345 aa
    Sequence Information (all 11)
    ORTHOLOGY for prph2a ( Chr: 12 )
    CITATIONS (24)