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 have cadherin binding activity. Involved in desmosome organization and heart looping. Predicted to localize to several cellular components, including adherens junction; nucleus; and plasma membrane. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 9. Is expressed in epidermis; heart; and neuroepithelial cell. Orthologous to human PKP2 (plakophilin 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from Moriarty et al., 2012
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pkp2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
arrhythmogenic right ventricular dysplasia 9 Alliance Arrhythmogenic right ventricular dysplasia 9 609040
Associated With pkp2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR028435 Plakophilin/Delta catenin
Homologous_superfamily IPR011989 Armadillo-like helical
Homologous_superfamily IPR016024 Armadillo-type fold
Repeat IPR000225 Armadillo
Domain Details Per Protein
Protein Length Armadillo Armadillo-like helical Armadillo-type fold Plakophilin/Delta catenin
UniProtKB:B0BF33 815
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations