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Gene Ontology Classifications
protocadherin 15

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Pcdh15. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 5, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Adato A et al. (2005) Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet, 14:347-56. (PubMed:15590703)
  2. Ahmed ZM et al. (2003) 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, 12:3215-23. (PubMed:14570705)
  3. Alagramam KN et al. (2001) The mouse ames waltzer hearing-loss mutant is caused by mutation of pcdh15, a novel protocadherin gene Nat Genet, 27:99-102. (PubMed:11138007)
  4. Alagramam KN et al. (1999) A new mouse insertional mutation that causes sensorineural deafness and vestibular defects. Genetics, 152:1691-9. (PubMed:10430593)
  5. Alagramam KN et al. (2000) Neuroepithelial defects of the inner ear in a new allele of the mouse mutation Ames waltzer. Hear Res, 148:181-91. (PubMed:10978835)
  6. Calderon A et al. (2006) Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse. Hear Res, 221:44-58. (PubMed:16962269)
  7. Cook S et al. (1993) Re-mutation to Ames waltzer Mouse Genome, 91:554.
  8. Haywood-Watson RJ 2nd et al. (2006) Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Invest Ophthalmol Vis Sci, 47:3074-84. (PubMed:16799054)
  9. Lefevre G et al. (2008) A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development, 135:1427-37. (PubMed:18339676)
  10. Osako S et al. (1971) Electron microscopic studies of capillary permeability in normal and ames waltzer deaf mice. Acta Otolaryngol (Stockh), 71:365-76. (PubMed:5093631)
  11. Raphael Y et al. (2001) Severe vestibular and auditory impairment in three alleles of Ames waltzer (av) mice. Hear Res, 151:237-249. (PubMed:11124469)
  12. Reiners J et al. (2005) Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Mol Vis, 11:347-55. (PubMed:15928608)
  13. Senften M et al. (2006) Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J Neurosci, 26:2060-71. (PubMed:16481439)
  14. Washington JL 3rd et al. (2005) Characterization of a new allele of Ames waltzer generated by ENU mutagenesis. Hear Res, 202:161-9. (PubMed:15811708)
  15. Xiong W et al. (2012) TMHS is an integral component of the mechanotransduction machinery of cochlear hair cells. Cell, 151:1283-95. (PubMed:23217710)
  16. Zheng QY et al. (2005) Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. Hum Mol Genet, 14:103-11. (PubMed:15537665)
  17. Zheng QY et al. (2006) A new spontaneous mutation in the mouse protocadherin 15 gene. Hear Res, 219:110-20. (PubMed:16887306)
  18. Zobeley E et al. (1998) Fine genetic and comparative mapping of the deafness mutation Ames waltzer on mouse chromosome 10. Genomics, 50:260-6. (PubMed:9653653)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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