PCDH19 Back

protocadherin 19

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NCBI Description of PCDH19

The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Defects in this gene are a cause of epilepsy female-restricted with mental retardation (EFMR). Three transcript variants encoding different isoforms have been found for this gene.

Community Annotation of PCDH19 Add / Edit PCDH19: Annotations

No community annotations yet for PCDH19.
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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

PCDH19 is highly significantly mutated in
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PCDH19 is significantly mutated in
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PCDH19 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 PCDH19