Gene
pkp2
- ID
- ZDB-GENE-041210-167
- Name
- plakophilin 2
- Symbol
- pkp2 Nomenclature History
- Previous Names
-
- si:ch211-11c20.1
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including alpha-catenin binding activity; cadherin binding activity; and protein kinase C binding activity. Acts upstream of or within desmosome organization and heart looping. Predicted to be located in cell junction. Predicted to be active in several cellular components, including adherens junction; intercalated disc; and intermediate filament. Is expressed in epidermis; heart; and neuroepithelial cell. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 9. Orthologous to human PKP2 (plakophilin 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Moriarty et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arrhythmogenic right ventricular dysplasia 9 | Alliance | Arrhythmogenic right ventricular dysplasia 9 | 609040 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Armadillo | Armadillo-like helical | Armadillo-type fold | Plakophilin/Delta catenin |
|---|---|---|---|---|---|
|
UniProtKB:B0BF33
|
815 |
Interactions and Pathways
No data available
Plasmids
No data available