PCDH15 Back

protocadherin 15

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NCBI Description of PCDH15
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.

Community Annotation of PCDH15 Add / Edit PCDH15: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

PCDH15 is highly significantly mutated in
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PCDH15 is significantly mutated in
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PCDH15 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for PCDH15