plakophilin 2

Summary
Gene Symbol
  • PKP2
Organism
Homo sapiens (human)
NCBI Gene
5318
PubChem
5318
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cardiomyopathy
  • Cell adhesion
  • Cell junction
  • Cytoplasm
  • Disease variant
  • Methylation
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Repeat
Proteins
Displaying 1 entry
UniProt Protein Name
Q99959
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
catenin delta-2
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
cadherin binding
cell-cell junction assembly
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0050431 arrhythmogenic right ventricular cardiomyopathy
DOID:0060041 autism spectrum disorder
DOID:0110077 arrhythmogenic right ventricular dysplasia 9

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024