plakophilin-2 (PKP2)

Function

• may play a role in junctional plaques
• phosphorylated upon DNA damage, probably by ATM or ATR

Structure

• belongs to the beta-catenin family
• contains 8 ARM repeats

Compartment

• nucleus, cell junction, desmosome
• nuclear & associated with desmosomes

Alternative splicing

named isoforms=2

Expression

• widely expressed
• found at desmosomal plaques in simple & stratified epithelia & in non-epithelial tissues, including myocardium & lymph node follicles
• in most stratified epithelia found in the desmosomes of the basal cell layer
• seems to be absent from suprabasal strata of epithelia

Pathology

• defects in PKP2 are the cause of familial arrhythmogenic right ventricular dysplasia type 9

More general terms

• plakophilin
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5318
• OMIM: https://mirror.omim.org/entry/602861
• OMIM: https://mirror.omim.org/entry/609040
• UniProt: http://www.uniprot.org/uniprot/Q99959.html