PKP2 - plakophilin 2 Gene
Also Known as ARVD9
Species: Homo sapiens
About PKP2
This gene has 18 transcripts (splice variants), 210 orthologues, 6 paralogues and is associated with 7 phenotypes. Biased expression in heart (RPKM 72.8), colon (RPKM 29.6) and 12 other tissues.
Summary
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]
PKP2 Products (10)
| mRNA | Protein | Name |
|---|---|---|
| NM_001005242.3 | NP_001005242.2 | plakophilin-2 isoform 2a |
| NM_001407155.1 | NP_001394084.1 | plakophilin-2 isoform 3 |
| NM_001407156.1 | NP_001394085.1 | plakophilin-2 isoform 4 |
| NM_001407157.1 | NP_001394086.1 | plakophilin-2 isoform 5 |
| NM_001407158.1 | NP_001394087.1 | plakophilin-2 isoform 6 |
| NM_001407159.1 | NP_001394088.1 | plakophilin-2 isoform 6 |
| NM_001407160.1 | NP_001394089.1 | plakophilin-2 isoform 7 |
| NM_001407161.1 | NP_001394090.1 | plakophilin-2 isoform 8 |
| NM_001407162.1 | NP_001394091.1 | plakophilin-2 isoform 9 |
| NM_004572.4 | NP_004563.2 | plakophilin-2 isoform 2b |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables DNA binding |
IDA
IDA: Inferred from direct assay
|
20613778 | GOA |
| enables alpha-catenin binding |
IPI
IPI: Inferred from physical interaction
|
23136403 | GOA |
| enables intermediate filament binding |
IDA
IDA: Inferred from direct assay
|
10852826 | GOA |
| enables molecular adaptor activity |
IMP
IMP: Inferred from mutant phenotype
|
18474624 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10852826 | GOA |
| enables protein kinase C binding |
IPI
IPI: Inferred from physical interaction
|
18474624 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in cell-cell junction |
IDA
IDA: Inferred from direct assay
|
23884246 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
34368962 | GOA |
| located in desmosome |
IDA
IDA: Inferred from direct assay
|
20613778 | GOA |
| located in intercalated disc |
IDA
IDA: Inferred from direct assay
|
22781308 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11416169 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
23863954 | GOA |
PKP2 Protein Structure
Arm: Armadillo/beta-catenin-like repeat (386 - 423)
- 0
- 200
- 400
- 600
- 800
- 881 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
plakophilin-2 |
|
PKP2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Cross
|
PKP2 | Q99959 | PB1 | Influenza A virus | C5E526 | 28169297 | |
|
Cross
|
PKP2 | Q99959 | P0DTD1-PRO_0000449619 | SARS-CoV-2 | P0DTD1-PRO_0000449619 | 36217030 | |
|
Intra
|
PKP2 | Q99959 | YWHAE | Homo sapiens | P62258 | 36931259 | |
|
Intra
|
PKP2 | Q99959 | MTUS2 | Homo sapiens | Q5JR59 | 25416956 | |
|
Intra
|
PKP2 | Q99959 | NDEL1 | Homo sapiens | Q9GZM8 | 25416956 | |
|
Intra
|
PKP2 | Q99959 | NDEL1 | Homo sapiens | Q9GZM8 | 25416956 | |
|
Cross
|
PKP2 | Q99959 | PB1 | Influenza A virus | Q5EP37 | 28169297 | |
|
Cross
|
PKP2 | Q99959 | PB1 | Influenza A virus | P03431 | 28169297 | |
|
Cross
|
PKP2 | Q99959 | PB1 | Influenza A virus | P03431 | 28169297 | |
|
Cross
|
PKP2 | Q99959 | PB1 | Influenza A virus | P03431 | 28169297 | |
|
Cross
|
PKP2 | Q99959 | PB1 | Influenza A virus | Q1K9H5 | 28169297 |
PKP2 Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P89843 | plakophilin 2 Antibody (YA9187) | WB, ICC/IF, IF-Tissue, IP, ELISA | human, mouse, rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Brugada Syndrome |
|
|
| Familial Isolated Arrhythmogenic Right Ventricular Dysplasia |
|
|
| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form |
|
|
| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form |
|
|
| Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form |
|
|
| Left Ventricular Noncompaction |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
|
| Naxos Disease |
|
|
| Cardiomyopathy, Dilated, 1e |
|
|
| Long Qt Syndrome 1 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
|
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
|
| Left Bundle Branch Hemiblock |
|
|
| Cardiac Sarcoidosis |
|
|
| Palmoplantar Keratoderma, Nonepidermolytic |
|
|
| Heart Disease |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
|
| Familial Woolly Hair Syndrome |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
|
| Atrial Standstill 1 |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
|
| Right Bundle Branch Block |
|
|
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
|
| Palmoplantar Keratosis |
|
|
| Cardiac Tuberculosis |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
| Supine Hypotensive Syndrome |
|
|
| Anomalous Left Coronary Artery From The Pulmonary Artery |
|
|
| Myasthenic Syndrome, Congenital, 14 |
|
|
| Acute Myocarditis |
|
|
| Restrictive Cardiomyopathy |
|
|
| Long Qt Syndrome 2 |
|
|
| Heart Conduction Disease |
|
|
| Long Qt Syndrome |
|
|
| Familial Atrial Fibrillation |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Dilated Cardiomyopathy |
|
|
| Rasopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | PKP2 | VGNC | VGNC:44616 |
| Macaca mulatta | PKP2 | VGNC | VGNC:76152 |
| Mus musculus | PKP2 | MGD | MGI:1914701 |
| Rattus norvegicus | PKP2 | RGD | RGD:1306533 |
| Felis catus | PKP2 | VGNC | VGNC:68876 |
| Bos taurus | PKP2 | VGNC | VGNC:32950 |
| Others | PKP2 | NCBI |