Gene Symbol: Pcdh15
Description: protocadherin related 15
Alias: protocadherin-15, protocadherin 15
Species: rat
Products:     Pcdh15

Top Publications

  1. Ramakrishnan N, Drescher M, Khan K, Hatfield J, Drescher D. HCN1 and HCN2 proteins are expressed in cochlear hair cells: HCN1 can form a ternary complex with protocadherin 15 CD3 and F-actin-binding filamin A or can interact with HCN2. J Biol Chem. 2012;287:37628-46 pubmed publisher
    A unique coupling between HCN1 and stereociliary tip-link protein protocadherin 15 has been described for a teleost vestibular hair-cell model and mammalian organ of Corti (OC) (Ramakrishnan, N. A., Drescher, M. J., Barretto, R. L...
  2. Osako S, Hilding D. Electron microscopic studies of capillary permeability in normal and ames waltzer deaf mice. Acta Otolaryngol. 1971;71:365-76 pubmed
  3. Ramakrishnan N, Drescher M, Barretto R, Beisel K, Hatfield J, Drescher D. Calcium-dependent binding of HCN1 channel protein to hair cell stereociliary tip link protein protocadherin 15 CD3. J Biol Chem. 2009;284:3227-38 pubmed publisher
    ..terminus of rat organ of Corti HCN1 was found by yeast two-hybrid analysis to bind the carboxyl terminus of protocadherin 15 CD3, a tip link protein implicated in mechanosensory transduction...
  4. Naoi K, Kuramoto T, Kuwamura Y, Gohma H, Kuwamura M, Serikawa T. Characterization of the Kyoto circling (KCI) rat carrying a spontaneous nonsense mutation in the protocadherin 15 (Pcdh15) gene. Exp Anim. 2009;58:1-10 pubmed
    Protocadherin-15 (Pcdh15) plays important roles in the morphogenesis and cohesion of stereocilia bundles and in the maintenance of retinal photoreceptor cells...
  5. Rouget Quermalet V, Giustiniani J, Marie Cardine A, Beaud G, Besnard F, Loyaux D, et al. Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas. Oncogene. 2006;25:2807-11 pubmed
    ..Here we report the identification of a new secreted isoform of protocadherin 15, PCDH15C, which represents a potential associated protein for p85...
  6. Ahmed Z, Bernstein S, Ahmed Z, Khan S, Griffith A, Morell R, et al. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet. 2001;69:25-34 pubmed
    ..Here we report two mutations of protocadherin 15 (PCDH15) found in two families segregating Usher syndrome type 1F...
  7. Roux A, Faugère V, Le Guédard S, Pallares Ruiz N, Vielle A, Chambert S, et al. Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet. 2006;43:763-8 pubmed
    ..The five genes currently known to cause USH1 (MYO7A, USH1C, CDH23, PCDH15, and USH1G) were tested for...
  8. Xiong W, Grillet N, Elledge H, Wagner T, Zhao B, Johnson K, et al. TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell. 2012;151:1283-95 pubmed publisher
    ..TMHS binds to the tip-link component PCDH15 and regulates tip-link assembly, a process that is disrupted by deafness-causing Tmhs mutations...
  9. Webb S, Grillet N, Andrade L, Xiong W, Swarthout L, Della Santina C, et al. Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain. Development. 2011;138:1607-17 pubmed publisher
    b>Protocadherin 15 (PCDH15) is expressed in hair cells of the inner ear and in photoreceptors of the retina. Mutations in PCDH15 cause Usher Syndrome (deaf-blindness) and recessive deafness...

More Information


  1. Ahmed Z, Riazuddin S, Ahmad J, Bernstein S, Guo Y, Sabar M, et al. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Hum Mol Genet. 2003;12:3215-23 pubmed
    Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F)...
  2. Senften M, Schwander M, Kazmierczak P, Lillo C, Shin J, Hasson T, et al. Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J Neurosci. 2006;26:2060-71 pubmed
    ..We link here two gene products that have been associated with deafness and hair bundle defects, protocadherin 15 (PCDH15) and myosin VIIa (MYO7A), into a common pathway...
  3. Alagramam K, Kwon H, Cacheiro N, Stubbs L, Wright C, Erway L, et al. A new mouse insertional mutation that causes sensorineural deafness and vestibular defects. Genetics. 1999;152:1691-9 pubmed
    ..The mutant locus was mapped to a region on mouse chromosome 10, where other spontaneous, recessive mutations causing deafness in mice have been mapped. ..
  4. Alagramam K, Murcia C, Kwon H, Pawlowski K, Wright C, Woychik R. The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nat Genet. 2001;27:99-102 pubmed
    ..Cochlear hair cells in the av mutants show abnormal stereocilia by 10 days after birth (P10). This is the first evidence for the requirement of a protocadherin for normal function of the mammalian inner ear. ..
  5. Zheng Q, Yu H, Washington J, Kisley L, Kikkawa Y, Pawlowski K, et al. A new spontaneous mutation in the mouse protocadherin 15 gene. Hear Res. 2006;219:110-20 pubmed
    We have characterized a new allele of the protocadherin 15 gene (designatedPcdh15(av-6J)) that arose as a spontaneous, recessive mutation in the C57BL/6J inbred strain at Jackson Laboratory...
  6. Zobeley E, Sufalko D, Adkins S, Burmeister M. Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10. Genomics. 1998;50:260-6 pubmed
    ..A human homologue of av is predicted to lie either on 22q11.2 or on 10q21. The orientation of conserved linkage groups between these two human chromosomal regions relative to mouse Chromosome 10 was determined. ..
  7. Gillespie P, Muller U. Mechanotransduction by hair cells: models, molecules, and mechanisms. Cell. 2009;139:33-44 pubmed publisher
  8. Calderon A, Derr A, Stagner B, Johnson K, Martin G, Noben Trauth K. Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res. 2006;221:44-58 pubmed
    ..Genome-wide linkage scans of backcross, intercross, and congenic progeny revealed a complex pattern of genetic and stochastic effects. ..
  9. Alagramam K, Yuan H, Kuehn M, Murcia C, Wayne S, Srisailpathy C, et al. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet. 2001;10:1709-18 pubmed
    ..By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus...
  10. Lefevre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, et al. A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development. 2008;135:1427-37 pubmed publisher
    ..Mutations in genes encoding myosin VIIa, harmonin, cadherin 23, protocadherin 15 or sans cause Usher syndrome type I (USH1, characterized by congenital deafness, vestibular dysfunction and ..
  11. Haywood Watson R, Ahmed Z, Kjellstrom S, Bush R, Takada Y, Hampton L, et al. Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Invest Ophthalmol Vis Sci. 2006;47:3074-84 pubmed
    Mutations of PCDH15, the gene encoding protocadherin 15, cause either nonsyndromic deafness DFNB23 or Usher syndrome type 1F (USH1F) in humans and deafness with balance problems in Ames waltzer (av) mice...
  12. Washington J, Pitts D, Wright C, Erway L, Davis R, Alagramam K. Characterization of a new allele of Ames waltzer generated by ENU mutagenesis. Hear Res. 2005;202:161-9 pubmed
    Mutation in the protocadherin 15 (Pcdh15) gene causes hair cell dysfunction and is associated with abnormal stereocilia development...
  13. Wright A, Chakarova C, Abd El Aziz M, Bhattacharya S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273-84 pubmed publisher
    ..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise. ..
  14. Zheng Q, Yan D, Ouyang X, Du L, Yu H, Chang B, et al. Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet. 2005;14:103-11 pubmed
    Mutations in genes coding for cadherin 23 and protocadherin 15 cause deafness in both mice and humans...
  15. Kazmierczak P, Muller U. Sensing sound: molecules that orchestrate mechanotransduction by hair cells. Trends Neurosci. 2012;35:220-9 pubmed publisher
    ..We review here recent studies that have both identified some of these molecules and established the mechanisms by which they regulate the activity of the still-elusive mechanotransduction channel. ..
  16. Raphael Y, Kobayashi K, Dootz G, Beyer L, Dolan D, Burmeister M. Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice. Hear Res. 2001;151:237-249 pubmed
    ..These changes are followed by degeneration of the cochlear and vestibular neuroepithelium. ..
  17. Alagramam K, Zahorsky Reeves J, Wright C, Pawlowski K, Erway L, Stubbs L, et al. Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer. Hear Res. 2000;148:181-91 pubmed
    ..However, by 50 days, degenerative changes are evident in the saccular macula, which progresses to total loss of the saccular neuroepithelium in older animals. The new allele of av reported here will be designated av(TgN2742Rpw). ..
  18. Lelli A, Michel V, Boutet de Monvel J, Cortese M, Bosch Grau M, Aghaie A, et al. Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth. J Cell Biol. 2016;212:231-44 pubmed publisher