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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

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

Annotation information from UniProt.

Gene Ontology (GO)

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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

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GO Term	Evidence Code	PMID
intercalated disc	IDA	22781308
intercalated disc	IBA
membrane	TAS	8922383
cell junction	IDA
desmosome	ISS

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

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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.

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

Displaying **all 4** entries
InterPro
Armadillo-like helical
Armadillo-type fold
Armadillo
Plakophilin/Delta catenin

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

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	1500	FB:FBgn0260799
Drosophila melanogaster	1501	FB:FBgn0260799
Xenopus laevis	5318	Xenbase:XB-GENE-6079082
Drosophila melanogaster	8502	FB:FBgn0260799
Drosophila melanogaster	12388	FB:FBgn0260799
Drosophila melanogaster	18163	FB:FBgn0260799
Drosophila melanogaster	18772	FB:FBgn0260799
Mus musculus	67451	ZFIN:ZDB-GENE-041210-167	MOUSE17649
Drosophila melanogaster	227937	FB:FBgn0260799
Rattus norvegicus	287925		RATNO04379

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Last updated: April 7, 2025