GENE REFERENCE / HGNC:9024

PKP2

plakophilin 2

protein-coding gene12p11.21Gene information

What does this gene do?

The PKP2 gene provides instructions for making a protein called plakophilin 2. This protein is found primarily in cells of the myocardium, which is the muscular wall of the heart. Within these cells, plakophilin 2 is one of several proteins that make up structures called desmosomes. These structures form junctions that attach cells to one another. Desmosomes provide strength to the myocardium and are involved in signaling between neighboring cells.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2010-05.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Brugada syndrome 1MONDO:0011001 · Evaluated 2017-11-21	Autosomal dominant	DisputedBrugada Syndrome Gene Curation Expert Panel
catecholaminergic polymorphic ventricular tachycardiaMONDO:0017990 · Evaluated 2021-01-20	Autosomal dominant	DisputedCatecholaminergic Polymorphic Ventricular Tachycardia Gene Curation Expert Panel
dilated cardiomyopathyMONDO:0005021 · Evaluated 2025-05-30	Autosomal dominant	DisputedDilated Cardiomyopathy Gene Curation Expert Panel
arrhythmogenic right ventricular cardiomyopathyMONDO:0016587 · Evaluated 2018-03-08	Autosomal dominant	DefinitiveArrhythmogenic Right Ventricular Cardiomyopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 2,468
Submissions for variants in or overlapping this gene: 6,354
Submissions explicitly reporting this gene: 6,259
Alleles reported pathogenic / likely pathogenic: 415
VariationIDs with uncertain significance: 1,098
VariationIDs with conflicting classifications: 212

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about PKP2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 415 alleles in PKP2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in PKP2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →