External Ids 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 arrhythmogenic right ventricular dysplasia/cardiomyopathy 9 and arrhythmogenic right ventricular dysplasia 9. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include ion channel binding and protein complex scaffold. An important paralog of this gene is PKP3.
UniProtKB/Swiss-Prot for PKP2 Gene
May play a role in junctional plaques.