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Guidelines

MIRAGE

plakophilin 2

Summary

Gene Symbol

PKP2

Organism

Homo sapiens (human)

External Links

NCBI Gene

5318

PubChem

5318

Alliance of Genome Resources

HGNC:9024

JoGo

PKP2

TogoVar

PKP2

Annotation

Keyword

3D-structure
Alternative splicing
Cardiomyopathy
Cell adhesion
Cell junction
Cytoplasm
DNA-binding
Disease variant
Methylation
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Repeat

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q99959
A0A8V8TPU9
A0AAQ5BGY2

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 24 in total

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GO Term	Evidence Code	PMID
desmosome assembly	IMP	18474624
desmosome organization	IBA
cell-cell signaling	IMP	22889254
heart development	ISS
heart development	IBA

GO Hierarchy

biological process

cellular process [inference]

cell communication [inference]

cell-cell signaling

cell communication by electrical coupling [inference]

cell communication by electrical coupling involved in cardiac conduction

cell communication involved in cardiac conduction [inference]

cell communication by electrical coupling involved in cardiac conduction

cell adhesion [inference]

cell-cell adhesion

homotypic cell-cell adhesion [inference]

cardiac muscle cell-cardiac muscle cell adhesion [inference]

bundle of His cell-Purkinje myocyte adhesion involved in cell communication

heterotypic cell-cell adhesion [inference]

bundle of His cell-Purkinje myocyte adhesion involved in cell communication

intermediate filament-based process [inference]

intermediate filament cytoskeleton organization [inference]

intermediate filament organization [inference]

intermediate filament bundle assembly

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

protein localization to cell periphery [inference]

protein localization to plasma membrane

maintenance of location in cell [inference]

maintenance of protein location in cell [inference]

maintenance of protein localization at cell tip

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

intermediate filament cytoskeleton organization [inference]

intermediate filament organization [inference]

intermediate filament bundle assembly

cellular component assembly [inference]

cell junction assembly [inference]

cell-cell junction assembly [inference]

desmosome assembly

intermediate filament bundle assembly

cell junction organization [inference]

cell junction assembly [inference]

cell-cell junction assembly [inference]

desmosome assembly

cell-cell junction organization [inference]

desmosome organization

desmosome assembly

cell-cell junction assembly [inference]

desmosome assembly

supramolecular fiber organization [inference]

intermediate filament organization [inference]

intermediate filament bundle assembly

developmental process [inference]

anatomical structure morphogenesis [inference]

tissue morphogenesis [inference]

muscle tissue morphogenesis [inference]

cardiac muscle tissue morphogenesis [inference]

ventricular cardiac muscle tissue morphogenesis

anatomical structure development [inference]

animal organ development [inference]

heart development

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

protein localization to cell periphery [inference]

protein localization to plasma membrane

maintenance of location [inference]

maintenance of protein location [inference]

maintenance of protein location in cell [inference]

maintenance of protein localization at cell tip

maintenance of location in cell [inference]

maintenance of protein location in cell [inference]

maintenance of protein localization at cell tip

cellular localization [inference]

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

cellular macromolecule localization [inference]

protein localization [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

protein localization to cell periphery [inference]

protein localization to plasma membrane

biological regulation [inference]

regulation of biological process [inference]

signaling [inference]

cell-cell signaling

regulation of localization [inference]

regulation of transport [inference]

regulation of monoatomic ion transport [inference]

regulation of metal ion transport [inference]

regulation of sodium ion transport [inference]

positive regulation of sodium ion transport

positive regulation of monoatomic ion transport [inference]

positive regulation of sodium ion transport

positive regulation of transport [inference]

positive regulation of monoatomic ion transport [inference]

positive regulation of sodium ion transport

positive regulation of biological process [inference]

positive regulation of transport [inference]

positive regulation of monoatomic ion transport [inference]

positive regulation of sodium ion transport

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

regulation of developmental process [inference]

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

regulation of cellular process [inference]

regulation of cell adhesion [inference]

regulation of cell-substrate adhesion

regulation of substrate adhesion-dependent cell spreading

regulation of actin filament-based process [inference]

regulation of actin filament-based movement [inference]

regulation of cardiac muscle cell contraction [inference]

regulation of ventricular cardiac muscle cell action potential

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

negative regulation of cellular process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of muscle system process [inference]

regulation of muscle contraction [inference]

regulation of striated muscle contraction [inference]

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle cell contraction [inference]

regulation of ventricular cardiac muscle cell action potential

regulation of blood circulation [inference]

regulation of heart contraction [inference]

regulation of heart rate [inference]

regulation of heart rate by cardiac conduction

regulation of cardiac muscle contraction [inference]

regulation of cardiac muscle cell contraction [inference]

regulation of ventricular cardiac muscle cell action potential

cardiac conduction [inference]

regulation of heart rate by cardiac conduction

regulation of action potential [inference]

regulation of cardiac muscle cell action potential [inference]

regulation of ventricular cardiac muscle cell action potential

regulation of biological quality [inference]

regulation of heart rate [inference]

regulation of heart rate by cardiac conduction

regulation of membrane potential [inference]

action potential [inference]

cardiac muscle cell action potential [inference]

cardiac muscle cell action potential involved in contraction

ventricular cardiac muscle cell action potential

regulation of action potential [inference]

regulation of cardiac muscle cell action potential [inference]

regulation of ventricular cardiac muscle cell action potential

Displaying entries **1 - 5** of 23 in total

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GO Term	Evidence Code	PMID
cornified envelope	TAS
nucleus	NAS	8922383
nucleus	IDA	11416169 11790773 20613778 34368962
nucleus	IBA
nucleoplasm	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

plasma membrane

cornified envelope

anchoring junction [inference]

cell-cell junction

cell-cell contact zone [inference]

intercalated disc

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

cell pole [inference]

cell tip

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

intermediate filament

Displaying entries **6 - 10** of 11 in total

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GO Term	Evidence Code	PMID
transmembrane transporter binding	ISS
alpha-catenin binding	IPI	23136403
cadherin binding	IBA
cadherin binding	HDA	25468996
molecular adaptor activity	IMP	18474624

GO Hierarchy

molecular function

binding [inference]

protein binding

enzyme binding [inference]

kinase binding [inference]

protein kinase binding [inference]

protein kinase C binding

cell adhesion molecule binding [inference]

cadherin binding

cell adhesion mediator activity [inference]

cell-cell adhesion mediator activity [inference]

protein binding involved in heterotypic cell-cell adhesion [inference]

cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication

intermediate filament binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

DNA binding

molecular adaptor activity

molecular function regulator activity [inference]

transporter regulator activity [inference]

channel regulator activity [inference]

ion channel regulator activity [inference]

sodium channel regulator activity

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	Alliance of Genome Resources
DOID:0110077	arrhythmogenic right ventricular dysplasia 9	Alliance of Genome Resources

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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: April 6, 2026