PKP2 Chromosome 12
Plakophilin 2
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What This Gene Does
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene may regulate the signaling activity of beta-catenin and is required to maintain transcription of genes that control intracellular calcium cycling including ryanodine receptor 2, ankyrin-B, triadin, and calcium channel, voltage-dependent, L type, alpha 1C. Mutations in this gene are associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic Ventricular Fibrillation. A processed pseudogene with high similarity to this gene has been mapped to chromosome 12p13. [provided by RefSeq, May 2022]
Gene Info
Gene Group
"Armadillo repeat containing|Plakophilins"
Locus Type
gene with protein product
Location
12p11.21
Ensembl
ENSG00000057294
Associated Conditions (40)
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular dysplasia 9
Cardiomyopathy
Cardiovascular phenotype
Primary familial hypertrophic cardiomyopathy
PKP2-related disorder
Left ventricular noncompaction cardiomyopathy
Ventricular fibrillation
paroxysmal familial
type 1
Hypertrophic cardiomyopathy
Familial isolated arrhythmogenic right ventricular dysplasia
Long QT syndrome
Primary familial dilated cardiomyopathy
Primary dilated cardiomyopathy
Ventricular tachycardia
Premature ventricular contraction
Brugada syndrome
Conduction disorder of the heart
Duchenne muscular dystrophy
+20 more conditions
Key Variants
RS1057520726
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
Health Risk
RS1060499891
Conflicting classifications of pathogenicity
Health Risk
RS1060501188
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS111450489
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
Health Risk
RS112592855
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Cardiomyopathy
Health Risk
RS1172703594
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
Health Risk
RS1181973282
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
Health Risk
RS1201491997
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
Health Risk
RS1220372775
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
Health Risk
RS1257306156
Conflicting classifications of pathogenicity
Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
Health Risk
RS1258853212
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
Health Risk
RS1264399626
Conflicting classifications of pathogenicity
Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
Health Risk
All Variants (462)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060501186 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1064792927 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9 |
| RS1064792929 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1064793231 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9 |
| RS1064793905 | Health Risk | Pathogenic | — |
| RS1064796241 | Health Risk | Pathogenic | — |
| RS1181152684 | Health Risk | Pathogenic | Sudden unexplained death, Sudden unexplained death |
| RS1197820814 | Health Risk | Pathogenic | Familial isolated arrhythmogenic right ventricular dysplasia, Familial isolated arrhythmogenic right ventricular dysplasia |
| RS1204333387 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS121434420 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy |
| RS121434421 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype |
| RS1214999277 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1225845438 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1226953182 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1257456477 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9 |
| RS1318070848 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9 |
| RS1325285497 | Health Risk | Pathogenic | Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9, Familial isolated arrhythmogenic right ventricular dysplasia |
| RS1393661338 | Health Risk | Pathogenic | Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype |
| RS1396519956 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9 |
| RS1425855043 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9 |
| RS1432861552 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9 |
| RS1444213066 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9 |
| RS1447337068 | Health Risk | Pathogenic | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype |
| RS1453983744 | Health Risk | Pathogenic | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1486464304 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1555142907 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1555142984 | Health Risk | Pathogenic | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype |
| RS1555143134 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1555143143 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1555145520 | Health Risk | Pathogenic | Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype |
| RS1555145521 | Health Risk | Pathogenic | — |
| RS1555148032 | Health Risk | Pathogenic | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS1555148048 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1555148090 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1555148259 | Health Risk | Pathogenic | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS1555148271 | Health Risk | Pathogenic | Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype |
| RS1555149975 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9 |
| RS1565586921 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1565586958 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1565599473 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1592729525 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy, Cardiovascular phenotype |
| RS193922672 | Health Risk | Pathogenic | Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype |
| RS193922673 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 9 |
| RS193922674 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype |
| RS1956120566 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS1956120794 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1956120988 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1956192035 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9 |
| RS1956192249 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1956378850 | Health Risk | Pathogenic | Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |