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Entry
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- *602861 - PLAKOPHILIN 2; PKP2
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- OMIM
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<p>
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<span class="h4">*602861</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602861">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000057294;t=ENST00000340811" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=5318" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=602861" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000057294;t=ENST00000340811" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001005242,NM_001407155,NM_001407156,NM_001407157,NM_001407158,NM_001407159,NM_001407160,NM_001407161,NM_001407162,NM_004572" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001005242" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=602861" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=04177&isoform_id=04177_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/PKP2" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/1871540,1871541,66267195,116496831,119608917,119608918,119608919,119608920,119608921,119608922,148664186,148664226,187384683,187609782,187609784,187609786,187609788,194386762,219518981,296452867,2245367871,2245367914,2245367953,2245367961,2245367969,2245368010,2245368013,2245368015" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q99959" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=5318" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000057294;t=ENST00000340811" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=PKP2" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=PKP2" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+5318" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/PKP2" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:5318" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5318" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr12&hgg_gene=ENST00000340811.9&hgg_start=32790755&hgg_end=32896777&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9024" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:9024" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/pkp2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602861[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602861[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/PKP2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000057294" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=PKP2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=PKP2" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PKP2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://www.LOVD.nl/PKP2" title="ARVD/C Genetic Variants Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">ARVD/C Genetic Variants Da…</a></div><div style="margin-left: 0.5em;"><a href="http://www.arvcdatabase.info" title="ARVD/C Genes Variants Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">ARVD/C Genes Variants Data…</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PKP2&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA33357" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:9024" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0260799.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1914701" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/PKP2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1914701" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/5318/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=5318" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041210-167" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:602861" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5318" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=PKP2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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602861
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PLAKOPHILIN 2; PKP2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PKP2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PKP2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/12/281?start=-3&limit=10&highlight=281">12p11.21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:32790755-32896777&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">12:32,790,755-32,896,777</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
|
|
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|
<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/12/281?start=-3&limit=10&highlight=281">
|
|
12p11.21
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Arrhythmogenic right ventricular dysplasia 9
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/609040"> 609040 </a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<p>Plakophilins are armadillo repeat-containing proteins that are localized in the desmosomal plaque and cell nucleus. Desmosomal plakophilins, like plakophilin 2, form part of the link between the cytoplasmic tail of cadherins and the intermediate filament cytoskeleton (<a href="#2" class="mim-tip-reference" title="Bonne, S., van Hengel, J, van Roy, F. <strong>Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization.</strong> Cytogenet. Cell Genet. 88: 286-287, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828611</a>] [<a href="https://doi.org/10.1159/000015540" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10828611">Bonne et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10828611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Mertens, C., Kuhn, C., Franke, W. W. <strong>Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque.</strong> J. Cell Biol. 135: 1009-1025, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8922383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8922383</a>] [<a href="https://doi.org/10.1083/jcb.135.4.1009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8922383">Mertens et al. (1996)</a> isolated cDNAs encoding 2 forms of plakophilin-2 (PKP2), which they named PKP2a and PKP2b, from human colon carcinoma and heart cDNA libraries. The predicted 837-amino acid PKP2a protein contains 9 complete copies of the armadillo motif, which is an approximately 42-amino acid domain first defined in the Drosophila 'armadillo' gene product. Compared with PKP2a, the predicted 881-amino acid PKP2b protein contains an insertion of 44 amino acids between the second and third armadillo motifs. The authors suggested that PKP2a and PKP2b are derived from alternatively spliced PKP2 transcripts. The PKP2 and PKP1 (<a href="/entry/601975">601975</a>) proteins are 42% identical in the armadillo repeats. Immunoblot analysis of a wide range of human cell lines and tissues using antibodies against PKP2 detected an approximately 100-kD protein, which sometimes appeared as a twin band. Immunolocalization studies showed that PKP2 is a constituent of the desmosomal plaque in simple epithelia, some stratified epithelia, and some nonepithelial cells. PKP2 is also enriched in the karyoplasm of cells of various types, including those lacking desmosomes. Northern blot analysis detected approximately 5.3-kb PKP2 transcripts in diverse human cell lines and tissues representing both epithelial and nonepithelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8922383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Oxford, E. M., Musa, H., Maass, K., Coombs, W., Taffet, S. M., Delmar, M. <strong>Connexin-43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells.</strong> Circ. Res. 101: 703-711, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17673670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17673670</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.107.154252" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17673670">Oxford et al. (2007)</a> used RNA silencing to decrease the expression of PKP2 in neonatal rat cardiomyocytes and epicardial cells and found that loss of PKP2 expression led to a decrease in total CX43 expression (see GJA1, <a href="/entry/121014">121014</a>), a significant redistribution of CX43 to the intracellular space, and a decrease in dye coupling between cells. Separate experiments indicated that PKP2 and CX43 are part of a common macromolecular complex; together, the results supported the notion of molecular crosstalk mediating gap junction remodeling subsequent to disruption of the desmosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17673670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization and analysis of a somatic cell hybrid mapping panel, <a href="#1" class="mim-tip-reference" title="Bonne, S., van Hengel, J., van Roy, F. <strong>Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily.</strong> Genomics 51: 452-454, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9721216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9721216</a>] [<a href="https://doi.org/10.1006/geno.1998.5398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9721216">Bonne et al. (1998)</a> mapped the PKP2 gene to 12p13. <a href="#10" class="mim-tip-reference" title="Schmidt, A, Langbein, L., Pratzel, S., Rode, M., Rackwitz, H.-R., Franke, W. W. <strong>Plakophilin 3--a novel cell-type-specific desmosomal plaque protein.</strong> Differentiation 64: 291-306, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10374265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10374265</a>] [<a href="https://doi.org/10.1046/j.1432-0436.1999.6450291.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10374265">Schmidt et al. (1999)</a> used FISH to map the PKP2 gene to 12p11. Further analysis by <a href="#2" class="mim-tip-reference" title="Bonne, S., van Hengel, J, van Roy, F. <strong>Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization.</strong> Cytogenet. Cell Genet. 88: 286-287, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828611</a>] [<a href="https://doi.org/10.1159/000015540" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10828611">Bonne et al. (2000)</a> of a human 12p13-specific PAC clone showed that 12p13 was the location of a processed plakophilin-2 pseudogene, PKP2P1. By fluorescence in situ hybridization, <a href="#2" class="mim-tip-reference" title="Bonne, S., van Hengel, J, van Roy, F. <strong>Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization.</strong> Cytogenet. Cell Genet. 88: 286-287, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828611</a>] [<a href="https://doi.org/10.1159/000015540" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10828611">Bonne et al. (2000)</a> confirmed the localization of PKP2 to 12p11. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9721216+10374265+10828611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Arrhythmogenic right ventricular cardiomyopathy (ARVC; see <a href="/entry/107970">107970</a>), also called arrhythmogenic right ventricular dysplasia (ARVD), is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias, and sudden cardiac death. On the basis of findings of a lethal defect in cardiac morphogenesis at embryonic day 10.75 in Pkp2-null mice (<a href="#5" class="mim-tip-reference" title="Grossmann, K. S., Grund, C., Huelsken, J., Behrend, M., Erdmann, B., Franke, W. W., Birchmeier, W. <strong>Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation.</strong> J. Cell Biol. 167: 149-160, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15479741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15479741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15479741[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.200402096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15479741">Grossmann et al., 2004</a>), <a href="#4" class="mim-tip-reference" title="Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S. M., Ellinor, P. T., MacRae, C. A., Peters, S., Grossmann, K. S., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L. <strong>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.</strong> Nature Genet. 36: 1162-1164, 2004. Note: Erratum: Nature Genet. 37: 106 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15489853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15489853</a>] [<a href="https://doi.org/10.1038/ng1461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15489853">Gerull et al. (2004)</a> hypothesized that mutations in the PKP2 may account for ARVC (ARVC9; <a href="/entry/609040">609040</a>). They collected a total of 120 unrelated probands of western European descent (101 males and 19 females), directly sequenced all 14 PKP2 exons, including flanking intronic splice sequences, and identified 25 different heterozygous mutations in 32 probands (27 males and 5 females) (see, e.g., <a href="#0001">602861.0001</a>-<a href="#0004">602861.0004</a>). Of the 25 PKP2 mutations, 12 were insertion-deletion mutations, 6 were nonsense mutations, 4 were missense mutations, and 3 were splice site mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15489853+15479741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S. M., Ellinor, P. T., MacRae, C. A., Peters, S., Grossmann, K. S., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L. <strong>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.</strong> Nature Genet. 36: 1162-1164, 2004. Note: Erratum: Nature Genet. 37: 106 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15489853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15489853</a>] [<a href="https://doi.org/10.1038/ng1461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15489853">Gerull et al. (2004)</a> speculated that lack of plakophilin-2 or incorporation of mutant plakophilin-2 in the cardiac desmosomes impairs cell-cell contacts and, as a consequence, disrupts adjacent cardiomyocytes, particularly in response to mechanical stress or stretch (thus providing a potential explanation for the high prevalence of the disorder in athletes, the frequent occurrence of ventricular tachyarrhythmias and sudden death during exercise, and the predominant affection of the right ventricle). Intercellular disruption would occur first in areas of high stress and stretch: the right ventricular outflow tract, apex, and inferobasal (subtricuspid) area, which are pathologic predilection areas in ARVC (forming the 'triangle of dysplasia') (<a href="#7" class="mim-tip-reference" title="Marcus, F. I., Fontaine, G. H., Guiraudon, G., Frank, R., Laurenceau, J. L., Malergue, C., Grosgogeat, Y. <strong>Right ventricular dysplasia: a report of 24 adult cases.</strong> Circulation 65: 384-398, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7053899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7053899</a>] [<a href="https://doi.org/10.1161/01.cir.65.2.384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7053899">Marcus et al., 1982</a>). The potential cellular mechanism for the initiation of ventricular tachyarrhythmias in ARVC is the intrinsic variation in conduction properties as a result of these patchy areas of fibrofatty myocyte degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15489853+7053899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Dalal, D., Molin, L. H., Piccini, J., Tichnell, C., James, C., Bomma, C., Prakasa, K., Towbin, J. A., Marcus, F. I., Spevak, P. J., Bluemke, D. A., Abraham, T., Russell, S. D., Calkins, H., Judge, D. P. <strong>Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.</strong> Circulation 113: 1641-1649, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16549640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16549640</a>] [<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.568642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16549640">Dalal et al. (2006)</a> confirmed high prevalence of PKP2 mutations in a large cohort of patients with ARVD/C and reported that those with PKP2 mutations present with arrhythmia earlier than do patients with ARVD/C who do not have a PKP2 mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16549640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Hakui, H., Kioka, H., Sera, F., Nakamoto, K., Ozu, K., Kuramoto, Y., Miyashita, Y., Ohtani, T., Hikoso, S., Asano, Y., Sakata, Y. <strong>Refractory ventricular arrhythmias in a patient with dilated cardiomyopathy caused by a nonsense mutation in BAG5.</strong> Circ. J. 86: 2043, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36130910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36130910</a>] [<a href="https://doi.org/10.1253/circj.CJ-22-0329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="36130910">Hakui et al. (2022)</a> identified a Japanese man with severe dilated cardiomyopathy (CMD2F; <a href="/entry/619747">619747</a>) who, in addition to a recurrent R197X substitution in the BAG5 gene (<a href="/entry/603885#0001">603885.0001</a>), also carried a heterozygous 4-bp insertion (c.1728_1729insGATG) in the PKP2 gene, which the authors suggested might have exacerbated the arrhythmogenicity in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36130910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Grossmann, K. S., Grund, C., Huelsken, J., Behrend, M., Erdmann, B., Franke, W. W., Birchmeier, W. <strong>Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation.</strong> J. Cell Biol. 167: 149-160, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15479741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15479741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15479741[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.200402096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15479741">Grossmann et al. (2004)</a> generated plakophilin-2-null mice which exhibited lethal alterations in heart morphogenesis and stability at midgestation, characterized by reduced trabeculation, disarray of the cytoskeleton, cardiac wall rupture, and blood leakage into the pericardial cavity. In Pkp2-deficient hearts, desmoplakin was dissociated from the plaques of the adhering junctions that connect the cardiomyocytes and had formed granular aggregates in the cytoplasm. <a href="#5" class="mim-tip-reference" title="Grossmann, K. S., Grund, C., Huelsken, J., Behrend, M., Erdmann, B., Franke, W. W., Birchmeier, W. <strong>Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation.</strong> J. Cell Biol. 167: 149-160, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15479741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15479741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15479741[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.200402096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15479741">Grossmann et al. (2004)</a> concluded that plakophilin-2 is important for the assembly of junctional proteins and represents an essential morphogenic factor and architectural component of the heart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15479741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="/allelicVariants/602861" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602861[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<strong>.0001 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121434420 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434420;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121434420?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121434420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121434420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007146 OR RCV000183722 OR RCV000211843 OR RCV000246785 OR RCV001190184 OR RCV001841230" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007146, RCV000183722, RCV000211843, RCV000246785, RCV001190184, RCV001841230" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007146...</a>
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<p>In 6 unrelated probands of western European descent, <a href="#4" class="mim-tip-reference" title="Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S. M., Ellinor, P. T., MacRae, C. A., Peters, S., Grossmann, K. S., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L. <strong>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.</strong> Nature Genet. 36: 1162-1164, 2004. Note: Erratum: Nature Genet. 37: 106 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15489853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15489853</a>] [<a href="https://doi.org/10.1038/ng1461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15489853">Gerull et al. (2004)</a> found that arrhythmogenic right ventricular cardiomyopathy (ARVC9; <a href="/entry/609040">609040</a>) was related to a heterozygous 235C-T transition in exon 2 of the PKP2 gene, resulting in an arg79-to-stop (R79X) substitution. At least 1 of the individuals had a positive family history and 1 had left ventricular as well as right ventricular involvement. All were male. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15489853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0002 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121434421 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434421;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121434421?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121434421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121434421" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007147 OR RCV000211738 OR RCV001557815 OR RCV002426495 OR RCV004724729" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007147, RCV000211738, RCV001557815, RCV002426495, RCV004724729" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007147...</a>
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<p>In a man and woman of western European extraction with arrhythmogenic right ventricular cardiomyopathy (ARVC9; <a href="/entry/609040">609040</a>), <a href="#4" class="mim-tip-reference" title="Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S. M., Ellinor, P. T., MacRae, C. A., Peters, S., Grossmann, K. S., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L. <strong>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.</strong> Nature Genet. 36: 1162-1164, 2004. Note: Erratum: Nature Genet. 37: 106 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15489853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15489853</a>] [<a href="https://doi.org/10.1038/ng1461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15489853">Gerull et al. (2004)</a> found a heterozygous 2203C-T transition in exon 11 of the PKP2 gene resulting in an arg735-to-stop (R735X) substitution. The woman had a positive family history and involvement of both the right and the left ventricles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15489853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9</strong>
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PKP2, IVS10AS, G-C, -1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs193922674 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs193922674;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs193922674?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs193922674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs193922674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007148 OR RCV000054811 OR RCV000183771 OR RCV000252055 OR RCV000771879 OR RCV003924809" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007148, RCV000054811, RCV000183771, RCV000252055, RCV000771879, RCV003924809" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007148...</a>
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<p>In 2 unrelated men of western European extraction with arrhythmogenic right ventricular cardiomyopathy (ARVC9; <a href="/entry/609040">609040</a>), <a href="#4" class="mim-tip-reference" title="Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S. M., Ellinor, P. T., MacRae, C. A., Peters, S., Grossmann, K. S., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L. <strong>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.</strong> Nature Genet. 36: 1162-1164, 2004. Note: Erratum: Nature Genet. 37: 106 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15489853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15489853</a>] [<a href="https://doi.org/10.1038/ng1461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15489853">Gerull et al. (2004)</a> found a heterozygous 2146-1G-C acceptor splice site mutation at the beginning of exon 11. One man had a positive family history; the other had involvement of both ventricles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15489853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9</strong>
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PKP2, IVS12DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs111517471 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs111517471;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs111517471?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs111517471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs111517471" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007149 OR RCV000157417 OR RCV000183714 OR RCV000618114 OR RCV000714906 OR RCV001171154 OR RCV001526972 OR RCV005054136" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007149, RCV000157417, RCV000183714, RCV000618114, RCV000714906, RCV001171154, RCV001526972, RCV005054136" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007149...</a>
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<p>In a woman of western European extraction with arrhythmogenic right ventricular cardiomyopathy (ARVC9; <a href="/entry/609040">609040</a>), <a href="#4" class="mim-tip-reference" title="Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S. M., Ellinor, P. T., MacRae, C. A., Peters, S., Grossmann, K. S., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L. <strong>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.</strong> Nature Genet. 36: 1162-1164, 2004. Note: Erratum: Nature Genet. 37: 106 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15489853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15489853</a>] [<a href="https://doi.org/10.1038/ng1461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15489853">Gerull et al. (2004)</a> found a heterozygous 2489+1G-A splice site mutation in the PKP2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15489853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1006/geno.1998.5398" target="_blank">Full Text</a>]
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Bonne, S., van Hengel, J, van Roy, F.
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<strong>Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10828611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10828611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10828611" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1159/000015540" target="_blank">Full Text</a>]
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Dalal, D., Molin, L. H., Piccini, J., Tichnell, C., James, C., Bomma, C., Prakasa, K., Towbin, J. A., Marcus, F. I., Spevak, P. J., Bluemke, D. A., Abraham, T., Russell, S. D., Calkins, H., Judge, D. P.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16549640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16549640</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16549640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/CIRCULATIONAHA.105.568642" target="_blank">Full Text</a>]
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Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S. M., Ellinor, P. T., MacRae, C. A., Peters, S., Grossmann, K. S., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L.
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<strong>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.</strong>
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Nature Genet. 36: 1162-1164, 2004. Note: Erratum: Nature Genet. 37: 106 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15489853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15489853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15489853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1461" target="_blank">Full Text</a>]
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Grossmann, K. S., Grund, C., Huelsken, J., Behrend, M., Erdmann, B., Franke, W. W., Birchmeier, W.
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<strong>Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation.</strong>
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J. Cell Biol. 167: 149-160, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15479741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15479741</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15479741[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15479741" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1083/jcb.200402096" target="_blank">Full Text</a>]
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Hakui, H., Kioka, H., Sera, F., Nakamoto, K., Ozu, K., Kuramoto, Y., Miyashita, Y., Ohtani, T., Hikoso, S., Asano, Y., Sakata, Y.
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Circ. J. 86: 2043, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/36130910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">36130910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=36130910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1253/circj.CJ-22-0329" target="_blank">Full Text</a>]
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Marcus, F. I., Fontaine, G. H., Guiraudon, G., Frank, R., Laurenceau, J. L., Malergue, C., Grosgogeat, Y.
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Circulation 65: 384-398, 1982.
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[<a href="https://doi.org/10.1161/01.cir.65.2.384" target="_blank">Full Text</a>]
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Mertens, C., Kuhn, C., Franke, W. W.
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<strong>Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8922383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8922383</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8922383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Oxford, E. M., Musa, H., Maass, K., Coombs, W., Taffet, S. M., Delmar, M.
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<strong>Connexin-43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17673670/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17673670</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17673670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/CIRCRESAHA.107.154252" target="_blank">Full Text</a>]
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Schmidt, A, Langbein, L., Pratzel, S., Rode, M., Rackwitz, H.-R., Franke, W. W.
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<strong>Plakophilin 3--a novel cell-type-specific desmosomal plaque protein.</strong>
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Differentiation 64: 291-306, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10374265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10374265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10374265" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1046/j.1432-0436.1999.6450291.x" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 03/28/2023
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Marla J. F. O'Neill - updated : 3/7/2008<br>Victor A. McKusick - updated : 6/13/2006<br>Marla J. F. O'Neill - updated : 1/4/2005<br>Victor A. McKusick - updated : 11/19/2004<br>Joanna S. Amberger - updated : 3/6/2001<br>Sheryl A. Jankowski - updated : 11/2/1999
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Patti M. Sherman : 7/20/1998
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carol : 01/29/2020<br>alopez : 01/04/2010<br>terry : 12/29/2009<br>carol : 3/7/2008<br>alopez : 6/16/2006<br>terry : 6/13/2006<br>terry : 4/5/2005<br>alopez : 3/4/2005<br>carol : 1/5/2005<br>terry : 1/4/2005<br>alopez : 11/23/2004<br>alopez : 11/23/2004<br>terry : 11/19/2004<br>terry : 3/6/2001<br>joanna : 3/6/2001<br>psherman : 11/2/1999<br>carol : 7/27/1998<br>dkim : 7/24/1998<br>carol : 7/23/1998
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PLAKOPHILIN 2; PKP2
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 12p11.21
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:32,790,755-32,896,777 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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12p11.21
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</span>
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</td>
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<td>
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<span class="mim-font">
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Arrhythmogenic right ventricular dysplasia 9
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</span>
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</td>
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<td>
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<span class="mim-font">
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609040
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Plakophilins are armadillo repeat-containing proteins that are localized in the desmosomal plaque and cell nucleus. Desmosomal plakophilins, like plakophilin 2, form part of the link between the cytoplasmic tail of cadherins and the intermediate filament cytoskeleton (Bonne et al., 2000). </p><p>Mertens et al. (1996) isolated cDNAs encoding 2 forms of plakophilin-2 (PKP2), which they named PKP2a and PKP2b, from human colon carcinoma and heart cDNA libraries. The predicted 837-amino acid PKP2a protein contains 9 complete copies of the armadillo motif, which is an approximately 42-amino acid domain first defined in the Drosophila 'armadillo' gene product. Compared with PKP2a, the predicted 881-amino acid PKP2b protein contains an insertion of 44 amino acids between the second and third armadillo motifs. The authors suggested that PKP2a and PKP2b are derived from alternatively spliced PKP2 transcripts. The PKP2 and PKP1 (601975) proteins are 42% identical in the armadillo repeats. Immunoblot analysis of a wide range of human cell lines and tissues using antibodies against PKP2 detected an approximately 100-kD protein, which sometimes appeared as a twin band. Immunolocalization studies showed that PKP2 is a constituent of the desmosomal plaque in simple epithelia, some stratified epithelia, and some nonepithelial cells. PKP2 is also enriched in the karyoplasm of cells of various types, including those lacking desmosomes. Northern blot analysis detected approximately 5.3-kb PKP2 transcripts in diverse human cell lines and tissues representing both epithelial and nonepithelial cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Oxford et al. (2007) used RNA silencing to decrease the expression of PKP2 in neonatal rat cardiomyocytes and epicardial cells and found that loss of PKP2 expression led to a decrease in total CX43 expression (see GJA1, 121014), a significant redistribution of CX43 to the intracellular space, and a decrease in dye coupling between cells. Separate experiments indicated that PKP2 and CX43 are part of a common macromolecular complex; together, the results supported the notion of molecular crosstalk mediating gap junction remodeling subsequent to disruption of the desmosome. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>By fluorescence in situ hybridization and analysis of a somatic cell hybrid mapping panel, Bonne et al. (1998) mapped the PKP2 gene to 12p13. Schmidt et al. (1999) used FISH to map the PKP2 gene to 12p11. Further analysis by Bonne et al. (2000) of a human 12p13-specific PAC clone showed that 12p13 was the location of a processed plakophilin-2 pseudogene, PKP2P1. By fluorescence in situ hybridization, Bonne et al. (2000) confirmed the localization of PKP2 to 12p11. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Arrhythmogenic right ventricular cardiomyopathy (ARVC; see 107970), also called arrhythmogenic right ventricular dysplasia (ARVD), is associated with fibrofatty replacement of cardiac myocytes, ventricular tachyarrhythmias, and sudden cardiac death. On the basis of findings of a lethal defect in cardiac morphogenesis at embryonic day 10.75 in Pkp2-null mice (Grossmann et al., 2004), Gerull et al. (2004) hypothesized that mutations in the PKP2 may account for ARVC (ARVC9; 609040). They collected a total of 120 unrelated probands of western European descent (101 males and 19 females), directly sequenced all 14 PKP2 exons, including flanking intronic splice sequences, and identified 25 different heterozygous mutations in 32 probands (27 males and 5 females) (see, e.g., 602861.0001-602861.0004). Of the 25 PKP2 mutations, 12 were insertion-deletion mutations, 6 were nonsense mutations, 4 were missense mutations, and 3 were splice site mutations. </p><p>Gerull et al. (2004) speculated that lack of plakophilin-2 or incorporation of mutant plakophilin-2 in the cardiac desmosomes impairs cell-cell contacts and, as a consequence, disrupts adjacent cardiomyocytes, particularly in response to mechanical stress or stretch (thus providing a potential explanation for the high prevalence of the disorder in athletes, the frequent occurrence of ventricular tachyarrhythmias and sudden death during exercise, and the predominant affection of the right ventricle). Intercellular disruption would occur first in areas of high stress and stretch: the right ventricular outflow tract, apex, and inferobasal (subtricuspid) area, which are pathologic predilection areas in ARVC (forming the 'triangle of dysplasia') (Marcus et al., 1982). The potential cellular mechanism for the initiation of ventricular tachyarrhythmias in ARVC is the intrinsic variation in conduction properties as a result of these patchy areas of fibrofatty myocyte degeneration. </p><p>Dalal et al. (2006) confirmed high prevalence of PKP2 mutations in a large cohort of patients with ARVD/C and reported that those with PKP2 mutations present with arrhythmia earlier than do patients with ARVD/C who do not have a PKP2 mutation. </p><p>Hakui et al. (2022) identified a Japanese man with severe dilated cardiomyopathy (CMD2F; 619747) who, in addition to a recurrent R197X substitution in the BAG5 gene (603885.0001), also carried a heterozygous 4-bp insertion (c.1728_1729insGATG) in the PKP2 gene, which the authors suggested might have exacerbated the arrhythmogenicity in this patient. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Grossmann et al. (2004) generated plakophilin-2-null mice which exhibited lethal alterations in heart morphogenesis and stability at midgestation, characterized by reduced trabeculation, disarray of the cytoskeleton, cardiac wall rupture, and blood leakage into the pericardial cavity. In Pkp2-deficient hearts, desmoplakin was dissociated from the plaques of the adhering junctions that connect the cardiomyocytes and had formed granular aggregates in the cytoplasm. Grossmann et al. (2004) concluded that plakophilin-2 is important for the assembly of junctional proteins and represents an essential morphogenic factor and architectural component of the heart. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PKP2, ARG79TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434420,
|
|
|
|
|
|
gnomAD: rs121434420,
|
|
|
|
|
|
ClinVar: RCV000007146, RCV000183722, RCV000211843, RCV000246785, RCV001190184, RCV001841230
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 6 unrelated probands of western European descent, Gerull et al. (2004) found that arrhythmogenic right ventricular cardiomyopathy (ARVC9; 609040) was related to a heterozygous 235C-T transition in exon 2 of the PKP2 gene, resulting in an arg79-to-stop (R79X) substitution. At least 1 of the individuals had a positive family history and 1 had left ventricular as well as right ventricular involvement. All were male. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PKP2, ARG735TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434421,
|
|
|
|
|
|
gnomAD: rs121434421,
|
|
|
|
|
|
ClinVar: RCV000007147, RCV000211738, RCV001557815, RCV002426495, RCV004724729
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a man and woman of western European extraction with arrhythmogenic right ventricular cardiomyopathy (ARVC9; 609040), Gerull et al. (2004) found a heterozygous 2203C-T transition in exon 11 of the PKP2 gene resulting in an arg735-to-stop (R735X) substitution. The woman had a positive family history and involvement of both the right and the left ventricles. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PKP2, IVS10AS, G-C, -1
|
|
|
|
|
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<br />
|
|
|
|
SNP: rs193922674,
|
|
|
|
|
|
gnomAD: rs193922674,
|
|
|
|
|
|
ClinVar: RCV000007148, RCV000054811, RCV000183771, RCV000252055, RCV000771879, RCV003924809
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 unrelated men of western European extraction with arrhythmogenic right ventricular cardiomyopathy (ARVC9; 609040), Gerull et al. (2004) found a heterozygous 2146-1G-C acceptor splice site mutation at the beginning of exon 11. One man had a positive family history; the other had involvement of both ventricles. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
PKP2, IVS12DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs111517471,
|
|
|
|
|
|
gnomAD: rs111517471,
|
|
|
|
|
|
ClinVar: RCV000007149, RCV000157417, RCV000183714, RCV000618114, RCV000714906, RCV001171154, RCV001526972, RCV005054136
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a woman of western European extraction with arrhythmogenic right ventricular cardiomyopathy (ARVC9; 609040), Gerull et al. (2004) found a heterozygous 2489+1G-A splice site mutation in the PKP2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bonne, S., van Hengel, J., van Roy, F.
|
|
<strong>Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily.</strong>
|
|
Genomics 51: 452-454, 1998.
|
|
|
|
|
|
[PubMed: 9721216]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1998.5398]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bonne, S., van Hengel, J, van Roy, F.
|
|
<strong>Assignment of the plakophilin-2 gene (PKP2) and a plakophilin-2 pseudogene (PKP2P1) to human chromosome bands 12p11 and 12p13, respectively, by in situ hybridization.</strong>
|
|
Cytogenet. Cell Genet. 88: 286-287, 2000.
|
|
|
|
|
|
[PubMed: 10828611]
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|
|
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|
|
[Full Text: https://doi.org/10.1159/000015540]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dalal, D., Molin, L. H., Piccini, J., Tichnell, C., James, C., Bomma, C., Prakasa, K., Towbin, J. A., Marcus, F. I., Spevak, P. J., Bluemke, D. A., Abraham, T., Russell, S. D., Calkins, H., Judge, D. P.
|
|
<strong>Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2.</strong>
|
|
Circulation 113: 1641-1649, 2006.
|
|
|
|
|
|
[PubMed: 16549640]
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|
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|
|
[Full Text: https://doi.org/10.1161/CIRCULATIONAHA.105.568642]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gerull, B., Heuser, A., Wichter, T., Paul, M., Basson, C. T., McDermott, D. A., Lerman, B. B., Markowitz, S. M., Ellinor, P. T., MacRae, C. A., Peters, S., Grossmann, K. S., Michely, B., Sasse-Klaassen, S., Birchmeier, W., Dietz, R., Breithardt, G., Schulze-Bahr, E., Thierfelder, L.
|
|
<strong>Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.</strong>
|
|
Nature Genet. 36: 1162-1164, 2004. Note: Erratum: Nature Genet. 37: 106 only, 2005.
|
|
|
|
|
|
[PubMed: 15489853]
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|
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|
|
[Full Text: https://doi.org/10.1038/ng1461]
|
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Grossmann, K. S., Grund, C., Huelsken, J., Behrend, M., Erdmann, B., Franke, W. W., Birchmeier, W.
|
|
<strong>Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation.</strong>
|
|
J. Cell Biol. 167: 149-160, 2004.
|
|
|
|
|
|
[PubMed: 15479741]
|
|
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|
|
[Full Text: https://doi.org/10.1083/jcb.200402096]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hakui, H., Kioka, H., Sera, F., Nakamoto, K., Ozu, K., Kuramoto, Y., Miyashita, Y., Ohtani, T., Hikoso, S., Asano, Y., Sakata, Y.
|
|
<strong>Refractory ventricular arrhythmias in a patient with dilated cardiomyopathy caused by a nonsense mutation in BAG5.</strong>
|
|
Circ. J. 86: 2043, 2022.
|
|
|
|
|
|
[PubMed: 36130910]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1253/circj.CJ-22-0329]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marcus, F. I., Fontaine, G. H., Guiraudon, G., Frank, R., Laurenceau, J. L., Malergue, C., Grosgogeat, Y.
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<strong>Right ventricular dysplasia: a report of 24 adult cases.</strong>
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Circulation 65: 384-398, 1982.
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[PubMed: 7053899]
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[Full Text: https://doi.org/10.1161/01.cir.65.2.384]
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Mertens, C., Kuhn, C., Franke, W. W.
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<strong>Plakophilins 2a and 2b: constitutive proteins of dual location in the karyoplasm and the desmosomal plaque.</strong>
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Oxford, E. M., Musa, H., Maass, K., Coombs, W., Taffet, S. M., Delmar, M.
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<strong>Connexin-43 remodeling caused by inhibition of plakophilin-2 expression in cardiac cells.</strong>
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Circ. Res. 101: 703-711, 2007.
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[PubMed: 17673670]
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[Full Text: https://doi.org/10.1161/CIRCRESAHA.107.154252]
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Schmidt, A, Langbein, L., Pratzel, S., Rode, M., Rackwitz, H.-R., Franke, W. W.
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<strong>Plakophilin 3--a novel cell-type-specific desmosomal plaque protein.</strong>
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[PubMed: 10374265]
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[Full Text: https://doi.org/10.1046/j.1432-0436.1999.6450291.x]
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