PARK2 Back

Parkinson disease (autosomal recessive, juvenile) 2, parkin

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NCBI Description of PARK2
The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support.

Community Annotation of PARK2 Add / Edit PARK2: 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

PARK2 is highly significantly mutated in
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PARK2 is significantly mutated in
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PARK2 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 PARK2