PKP2

This page contains an overview of the genetic variation in the PKP2 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

PKP2 gene and transcript details

Gene Name
plakophilin 2

Gene Links
Ensembl: ENSG00000057294 - Locus Reference Genomic: LRG_398

Genomic Location
Chromosome 12 : 32,945,358 - 33,049,665 (reverse strand)
View in: Ensembl - UCSC Genome Browser

Canonical Seqs	Transcript (2643 bases)	Protein (881 aa)
	ENST00000070846	ENSP00000070846
	LRG_398t1	LRG_398p1
	NM_004572.3
		Q99959

Summary of PKP2 in Cardiomyopathies

ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail

VarType	ARVC Freq	ExAC Freq	Case Excess
All	0.27978	0.01358	26.62%
Truncating	0.26316	0.00076	26.24%
Non-Truncating	0.01662	0.01280	0.38%

Based on an analysis of rare variants (MAF<0.0001) in PKP2 detected in a cohort of 361 ARVC patients sequenced at OMGL clinical laboratories, compared to ExAC controls.

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.01639	0.01358	0.28%
Truncating	0.00000	0.00076	-0.08%
Non-Truncating	0.01639	0.01280	0.36%

Based on an analysis of rare variants (MAF<0.0001) in PKP2 detected in a cohort of 427 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

PKP2 variants in ExAC

Details of the protein-altering PKP2 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

	Total Variants	Combined frequency of rare variants
All Variants	398	0.00728
Truncating	24	0.00038
Missense	345	0.00639
Inframe	1	0.00002
Splice Site	28	0.00049

Rare variants are defined as having a mean allelic frequency of less than 0.0001.