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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 **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
DNA binding	IDA	20613778
protein kinase C binding	IPI	18474624
protein binding	IPI	10852826 11416169 11790773 12941695 15778465 25416956 25910212 28169297 31515488 32296183 32353859 33060197 35271311 36217030 36931259
sodium channel regulator activity	ISS
intermediate filament binding	IDA	10852826

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

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Last updated: April 6, 2026