Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5318
MIM: 602861
HGNC: 9024
Ensembl: ENSG00000057294
Variants:
dbSNP: 5318
ClinVar: 5318
TCGA: ENSG00000057294
COSMIC: PKP2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000057294 | ENST00000070846 | Q99959 |
| ENSG00000057294 | ENST00000340811 | Q99959 |
| ENSG00000057294 | ENST00000546741 | A0A087WXY2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA134871907 | TMEM43 | Gene | DataAnnotation | associated | |||
| PA27489 | DSC2 | Gene | DataAnnotation | associated | |||
| PA27502 | DSG2 | Gene | DataAnnotation | associated | |||
| PA27505 | DSP | Gene | DataAnnotation | associated | |||
| PA446847 | Arrhythmogenic Right Ventricular Dysplasia | Disease | DataAnnotation, Literature, MultilinkAnnotation | associated | 23788249 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37726168 | 2024 | Downregulated expression of plakophilin-2 gene in patients with colon adenocarcinoma predicts an unfavorable prognosis and immune infiltrate. | 0 |
| 38050058 | 2024 | Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects. | 0 |
| 37726168 | 2024 | Downregulated expression of plakophilin-2 gene in patients with colon adenocarcinoma predicts an unfavorable prognosis and immune infiltrate. | 0 |
| 38050058 | 2024 | Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects. | 0 |
| 36280901 | 2023 | Plakophilin 2 regulates intestinal barrier function by modulating protein kinase C activity in vitro. | 5 |
| 37510372 | 2023 | The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain. | 1 |
| 37607954 | 2023 | Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to breed adipocyte senescence. | 2 |
| 36280901 | 2023 | Plakophilin 2 regulates intestinal barrier function by modulating protein kinase C activity in vitro. | 5 |
| 37510372 | 2023 | The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain. | 1 |
| 37607954 | 2023 | Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to breed adipocyte senescence. | 2 |
| 34949159 | 2022 | Long non-coding RNA HCG11 enhances osteosarcoma phenotypes by sponging miR-1245b-5p that directly inhibits plakophilin 2. | 6 |
| 35063130 | 2022 | Modeling reduced contractility and impaired desmosome assembly due to plakophilin-2 deficiency using isogenic iPS cell-derived cardiomyocytes. | 14 |
| 35536239 | 2022 | Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis. | 2 |
| 35628349 | 2022 | Decreased Expression of Plakophilin-2 and αT-Catenin in Arrhythmogenic Right Ventricular Cardiomyopathy: Potential Markers for Diagnosis. | 1 |
| 35959657 | 2022 | Loss of Nuclear Envelope Integrity and Increased Oxidant Production Cause DNA Damage in Adult Hearts Deficient in PKP2: A Molecular Substrate of ARVC. | 12 |
Citation
Dessen P
PKP2 (plakophilin 2)
Atlas Genet Cytogenet Oncol Haematol. 2012-03-01
Online version: http://atlasgeneticsoncology.org/gene/52640/pkp2-(plakophilin-2)
