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PKP2 plakophilin 2 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001005242 Homo sapiens plakophilin 2 (PKP2), transcript variant 2a, mRNA. GenEZ ORF Cloning In-stock $809.00 $760.00 15
NM_004572 Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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Gene Symbol PKP2
Entrez Gene ID 5318
Full Name plakophilin 2
Synonyms ARVD9
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

12

12p11

Summary This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008].
Disorder

MIM: 602861

Arrhythmogenic right ventricular dysplasia, familial, 9, 609040 (3)

mRNA Protein Product Sequence Price Select
NM_001005242, 148664185 NP_001005242, 148664186 plakophilin-2 isoform 2a ORF Sequence $660.00
NM_004572, 148664225 NP_004563, 148664226 plakophilin-2 isoform 2b ORF Sequence $750.00
KEGG
hsa05412Arrhythmogenic right ventricular cardiomyopathy (ARVC)
WikiPathways
WP2118Arrhythmogenic right ventricular cardiomyopathy
Homo sapiens (human)PKP2NP_001005242.2
Pan troglodytes (chimpanzee)PKP2XP_003954415.1
Canis lupus familiaris (dog)PKP2XP_543739.2
Bos taurus (cattle)PKP2NP_001077198.1
Mus musculus (house mouse)Pkp2NP_080439.1
Rattus norvegicus (Norway rat)Pkp2NP_001093969.1
Gallus gallus (chicken)PKP2XP_416362.4
Danio rerio (zebrafish)pkp2NP_001106904.1
Xenopus (Silurana) tropicalis (western clawed frog)pkp2NP_001096312.1
Process
IDNameEvidence
GO:0002159desmosome assemblyIMP
GO:0007507heart developmentISS
GO:0008285negative regulation of cell proliferationISS
GO:0010765positive regulation of sodium ion transportISS
GO:0016264gap junction assemblyISS
GO:0016337single organismal cell-cell adhesionISS
GO:0016337single organismal cell-cell adhesionNAS
GO:0030336negative regulation of cell migrationISS
GO:0034334adherens junction maintenanceISS
GO:0045110intermediate filament bundle assemblyIMP
GO:0048496maintenance of organ identityIMP
GO:0055010ventricular cardiac muscle tissue morphogenesisIMP
GO:0055088lipid homeostasisISS
GO:0086001cardiac muscle cell action potentialISS
GO:0086002cardiac muscle cell action potential involved in contractionIMP
GO:0086005ventricular cardiac muscle cell action potentialIMP
GO:0086019cell-cell signaling involved in cardiac conductionIMP
GO:0086064cell communication by electrical coupling involved in cardiac conductionISS
GO:0086069bundle of His cell to Purkinje myocyte communicationIMP
GO:0086091regulation of heart rate by cardiac conductionIMP
GO:2000810regulation of tight junction assemblyISS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005634nucleusNAS
GO:0005730nucleolusIDA
GO:0005882intermediate filamentISS
GO:0005886plasma membraneIDA
GO:0005911cell-cell junctionISS
GO:0005912adherens junctionISS
GO:0014704intercalated discISS
GO:0016021integral component of membraneTAS
GO:0030054cell junctionIDA
GO:0030057desmosomeISS
GO:0030057desmosomeNAS
Function
IDNameEvidence
GO:0003674molecular_functionND
GO:0005080protein kinase C bindingIPI
GO:0005515protein bindingIPI
GO:0017080sodium channel regulator activityISS
GO:0019215intermediate filament bindingIDA
GO:0032947protein complex scaffoldIMP
GO:0044325ion channel bindingISS
GeneCards PKP2
UniProt Q99959
Vega OTTHUMG00000169500
MIM 602861
Ensembl ENSG00000057294
HGNC 9024
HPRD 04177

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PKP2 gene?

The PKP2 gene provides instructions for making a protein called plakophilin 2. This protein is found primarily in cells of the myocardium, which is the muscular wall of the heart. Within these cells, plakophilin 2 is one of several proteins that make up structures called desmosomes. These structures form junctions that attach cells to one another. Desmosomes provide strength to the myocardium and are involved in signaling between neighboring cells.

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