External Ids for PKP2 Gene
Previous GeneCards Identifiers for PKP2 Gene
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]
GeneCards Summary for PKP2 Gene
PKP2 (Plakophilin 2) is a Protein Coding gene. Diseases associated with PKP2 include familial isolated arrhythmogenic ventricular dysplasia, right dominant form and familial isolated arrhythmogenic ventricular dysplasia, biventricular form. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include binding and protein kinase C binding. An important paralog of this gene is PKP3.
UniProtKB/Swiss-Prot for PKP2 Gene
May play a role in junctional plaques.