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Description for Protein PRPH2

peripherin 2 (retinal degeneration, slow)
4 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K07607
    KEGG - Pathway(s):
    hsa05014
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Peripherin, photoreceptor type; PRPH2; RP7
    Approved Symbol:
    PRPH2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization(Pd);
  • Fundus flavimaculatus(Pd);
  • Macular dystrophy(Pd);
  • Macular dystrophy, butterfly-shaped pigmentary(Pd);
  • Macular dystrophy, patterned(Pd);
  • Retinitis pigmentosa 7(Pd);
  • Retinitis pigmentosa 7, digenic(Pd);
  • Retinitis pigmentosa 7, with bull's-eye maculopathy(Pd);
  • Retinitis punctata Albescens, autosomal dominant(Pd);
  • Vitelliform macular dystrophy, adult-onset(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 3
    • Additional Identifiers:

    HPRD: 01553 Entrez Gene ID: 5961 OMIM ID: 179605 Swissprot Accession: P23942;