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Gene

PKP2

plakophilin 2

Summary

Cytogenetic location
12p11.21
Coordinates
Chromosome 12: 32,790,755–32,896,777 (GRCh38)
Exons
13 exons across 106 kb
Protein
837 amino acids
MANE Select transcript
ENST00000340811.9NM_001005242.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Arrhythmogenic Cardiomyopathy

    • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

      Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.

How PKP2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 12, with a bracket where PKP2 sits. PKP2 and 4 genes near it on chromosome 12, from 32,343,766 to 33,343,765.Chromosome 1212p11.21p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3332.4 Mb32.6 Mb32.8 Mb33 Mb33.2 MbBICD1: 32,106,643–32,383,633, forward strandBICD1FGD4: 32,399,318–32,646,050, forward strandFGD4DNM1L: 32,679,200–32,745,650, forward strandDNM1LYARS2: 32,725,785–32,755,948, reverse strandYARS2PKP2: 32,790,755–32,896,777, reverse strandPKP2Diagram of PKP2: 13 exons on the reverse strand of chromosome 12Exon 12: 10 known disease-causing sitesExon 11: 11 known disease-causing sitesExon 10: 12 known disease-causing sitesExon 9: 20 known disease-causing sitesExon 8: 22 known disease-causing sitesExon 7: 13 known disease-causing sitesExon 6: 21 known disease-causing sitesExon 5: 17 known disease-causing sitesExon 4: 11 known disease-causing sitesExon 3: 62 known disease-causing sitesExon 2: 13 known disease-causing sitesExon 1: 25 known disease-causing sitesExon 13: 32,790,755–32,792,492, 1,738 basesExon 12: 32,792,644–32,792,731, 88 bases. 2 variants with a page in exon 12. List themExon 11: 32,796,109–32,796,298, 190 bases. 3 variants with a page in exon 11. List themExon 10: 32,802,403–32,802,556, 154 bases. 4 variants with a page in exon 10. List themExon 9: 32,821,356–32,821,529, 174 bases. 4 variants with a page in exon 9. List themExon 8: 32,822,467–32,822,631, 165 bases. 5 variants with a page in exon 8. List themExon 7: 32,824,045–32,824,162, 118 basesExon 6: 32,841,028–32,841,205, 178 bases. 7 variants with a page in exon 6. List themExon 5: 32,850,766–32,850,973, 208 bases. 6 variants with a page in exon 5. List themExon 4: 32,868,927–32,869,062, 136 bases. 3 variants with a page in exon 4. List themExon 3: 32,877,846–32,878,543, 698 bases. 13 variants with a page in exon 3. List themExon 2: 32,878,920–32,879,032, 113 bases. 3 variants with a page in exon 2. List themExon 1: 32,896,509–32,896,777, 269 bases. 5 variants with a page in exon 1. List them1310515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.2 kb of the gene's 106 kb; 2,514 of those bases code for the protein.

How a genome test reads PKP2

278

positions in PKP2 where ClinVar classes a change as pathogenic or likely pathogenic

23 of them (8.3%) fall in regions short reads find hard.

  • Low mappability (10 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (13 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 106 kb of PKP2, introns included, not only the 4.2 kb of exons.

Variants with a page (66)

The PKP2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantExon or intronPosition (GRCh38)ClinVar classificationReview status
c.1A>GExon 132,896,731Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.369G>AExon 332,878,511Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1378+1G>CIntron 532,850,765Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1379-2A>TIntron 532,841,207Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1379-2047_1379-2043delIntron 532,843,247Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1482G>AExon 632,841,102Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1557-1G>CIntron 632,824,163Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.1839+2T>AIntron 832,822,465Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2013+1G>AIntron 932,821,355Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
c.2014-1G>CIntron 932,802,557Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

See all 66 PKP2 variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PKP2 gene: plakophilin 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/pkp2

Vancouver

Dante Labs. PKP2 gene: plakophilin 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pkp2

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