GENE NAME | PKP2 |
CHROMOSOME | 12 |
ENSEMBL ID | ENSG00000057294 |
ENTREZ ID | 5318 |
UNIPROT ACCESSION NUMBER | Q99959 |
GO MOLECULAR FUNCTION | alpha-catenin binding; cadherin binding; intermediate filament binding; molecular adaptor activity; protein kinase C binding |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-6805567; hsa05412; R-HSA-6809371; R-HSA-1266738 |
1 combination linked to PKP2 | OLI231 |
1 variant linked to PKP2 | PKP2:c.1759G>A, p.Val587Ile |
1 disease linked to PKP2 | Hypertrophic cardiomyopathy |