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Description for Protein CDH23

cadherin-related 23
2 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • Cadherin: Cadherin repeats
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K06813
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Otocadherin; USH1D; DFNB12; KIAA1812; KIAA1774; FLJ00233; FLJ36499; MGC102761; Cadherin related 23; Cadherin like 23; Cadherin related 23 isoform 1 precursor; Cadherin related 23 isoform 2 precursor
    Approved Symbol:
    CDH23
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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:

  • Deafness, autosomal recessive 12(Pd);
  • Usher syndrome, type Id(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 05699 Entrez Gene ID: 64072 OMIM ID: 605516 Swissprot Accession: Q9H251; Q5QGS5; Q5QGS1;