Plakophilin-2

PKP2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3TT9,%%s3TT9
Identifiers
Aliases	PKP2, ARVD9, plakophilin 2
External IDs	OMIM: 602861; MGI: 1914701; HomoloGene: 3364; GeneCards: PKP2; OMA:PKP2 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	32,896,777 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	16,090,576 bp
RNA expression pattern
	Top expressed in
	right ventricle; ; apex of heart; ; myocardium of left ventricle; ; right uterine tube; ; right auricle of heart; ; cardiac muscle tissue of right atrium; ; mucosa of colon; ; mucosa of sigmoid colon; ; rectum; ; mucosa of transverse colon;
	Top expressed in
	Ileal epithelium; ; superior surface of tongue; ; gallbladder; ; atrioventricular valve; ; myocardium of ventricle; ; cardiac muscle tissue of left ventricle; ; endocardial cushion; ; atrium; ; Paneth cell; ; epithelium of lens;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	sodium channel regulator activity; intermediate filament binding; transmembrane transporter binding; protein binding; cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication; molecular adaptor activity; alpha-catenin binding; protein kinase C binding; cadherin binding;
Cellular component	integral component of membrane; intercalated disc; cell-cell junction; adherens junction; plasma membrane; desmosome; nucleoplasm; cell junction; intermediate filament; nucleus; cornified envelope; messenger ribonucleoprotein complex; cytoplasm;
Biological process	intermediate filament bundle assembly; cell communication by electrical coupling involved in cardiac conduction; ventricular cardiac muscle cell action potential; cardiac muscle cell action potential involved in contraction; bundle of His cell-Purkinje myocyte adhesion involved in cell communication; cell-cell signaling involved in cardiac conduction; ventricular cardiac muscle tissue morphogenesis; heart development; desmosome assembly; cell adhesion; positive regulation of sodium ion transport; regulation of heart rate by cardiac conduction; regulation of ventricular cardiac muscle cell action potential; maintenance of animal organ identity; keratinization; cornification; protein localization to plasma membrane; cell-cell adhesion; cell-cell junction assembly; adherens junction maintenance;
	Sources:Amigo / QuickGO
Orthologs
	5318
	67451
	ENSG00000057294
	ENSMUSG00000041957
	Q99959
	Q9CQ73
	NM_004572; NM_001005242
	NM_026163
	NP_001005242; NP_004563
	NP_080439
	Wikidata
View/Edit Human	View/Edit Mouse

Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to link cadherins to intermediate filaments in the cytoskeleton. In cardiac muscle, plakophilin-2 is found in desmosome structures located within intercalated discs. Mutations in PKP2 have been shown to be causal in arrhythmogenic right ventricular cardiomyopathy.