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FLASH GENE
Symbol PCDH15 contributors: mct/shn - updated : 12-12-2017
HGNC name protocadherin-related 15
HGNC id 14674
ASSOCIATED DISORDERS
corresponding disease(s) USH1F , DFNB23
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in cytotoxic tumor-derived T- and NK-cell lines as well as in biopsies of nasal NK/T-cell lymphomas
Susceptibility
  • to familial combined hyperlipidemia
  • to Noise-induced hearing loss (NIHL)
  • Variant & Polymorphism SNP
  • nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia (Huertas-Vazquez 2010)
  • genetic variations in PCDH15 modify the susceptibility to NIHL development
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ames waltzer a recessive mutation in mice causes deafness and a balance disorder associated with the degeneration of inner ear neuroepithelia
  • Digenic heterozygotes mice for cadherin 23 and protocadherin 15 display a significant levels of hearing loss, cytoarchitectural defects in the cochlea, degeneration of the stereocilia and a base-apex loss of hair cells and spiral ganglion cells
  • Pcdh15-CD2-deficient mice are deaf, lack kinociliary links and have abnormally polarized hair bundles
  • noddy homozygotes lack inner ear function, and noddy mutant mice harbor an isoleucine-to-asparagine (I108N) mutation in the EC1 repeat of Pcdh15