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Entry
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- *605268 - JUNCTOPHILIN 3; JPH3
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*605268</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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<li role="presentation">
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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="#description">Description</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="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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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="#geneFunction">Gene Function</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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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605268">Table View</a>
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</li>
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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>
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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>
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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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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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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 panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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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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</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=ENSG00000154118;t=ENST00000284262" 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=57338" 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=605268" 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="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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=ENSG00000154118;t=ENST00000284262" 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_001271604,NM_001271605,NM_020655,NR_073379" 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_020655" 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=605268" 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=05589&isoform_id=05589_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/JPH3" 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/9886738,9886757,14250497,17646245,21704283,22328100,27805485,119615792,119615793,193786242,194380560,194386268,326205299,409971421,409971423" 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/Q8WXH2" 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>
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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=57338" 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=ENSG00000154118;t=ENST00000284262" 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=JPH3" 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=JPH3" 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+57338" 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/JPH3" 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:57338" 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/57338" 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=chr16&hgg_gene=ENST00000284262.3&hgg_start=87601835&hgg_end=87698156&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://medlineplus.gov/genetics/gene/jph3" 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=605268[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 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=605268[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://gnomad.broadinstitute.org/gene/ENSG00000154118" 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=JPH3" 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=JPH3" 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=JPH3" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=JPH3&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/PA30000" 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:14203" 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/FBgn0032129.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:1891497" 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/JPH3#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:1891497" 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/57338/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=57338" 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://wormbase.org/db/gene/gene?name=WBGene00002179;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060503-415" 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="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://reactome.org/content/query?q=JPH3&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 721228006<br />
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">ICD+</a>
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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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605268
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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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JUNCTOPHILIN 3; JPH3
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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JP3
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</span>
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</h4>
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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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<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=JPH3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">JPH3</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/16/722?start=-3&limit=10&highlight=722">16q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:87601835-87698156&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'})">16:87,601,835-87,698,156</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">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/722?start=-3&limit=10&highlight=722">
|
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16q24.2
|
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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">
|
|
Huntington disease-like 2
|
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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/606438"> 606438 </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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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605268" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605268" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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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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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
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<p>The JPH3 gene encodes junctophilin-3, a member of a conserved family of proteins that are components of junctional complexes. Junctional complexes between the plasma membrane (PM) and endoplasmic/sarcoplasmic reticulum (ER/SR) are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. Junctophilins (JPs or JPHs) are composed of a C-terminal hydrophobic segment spanning the ER/SR membrane and a remaining cytoplasmic domain that shows specific affinity for the PM. In mouse, there are at least 3 JP subtypes: Jp1, Jp2, and Jp3 (summary by <a href="#8" class="mim-tip-reference" title="Takeshima, H., Komazaki, S., Nishi, M., Iino, M., Kangawa, K. <strong>Junctophilins: a novel family of junctional membrane complex proteins.</strong> Molec. Cell 6: 11-22, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10949023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10949023</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)00003-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10949023">Takeshima et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10949023" 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 screening genomic DNA libraries, <a href="#4" class="mim-tip-reference" title="Nishi, M., Mizushima, A., Nakagawara, K., Takeshima, H. <strong>Characterization of human junctophilin subtype genes.</strong> Biochem. Biophys. Res. Commun. 273: 920-927, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891348</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10891348">Nishi et al. (2000)</a> isolated the human JP1 (<a href="/entry/605266">605266</a>) and JP2 (<a href="/entry/605267">605267</a>) genes, and by screening a brain cDNA library, they isolated a cDNA encoding human JP3. The JP3 gene encodes a deduced 748-amino acid protein. The human JPs share an overall sequence identity of 39%, and they share characteristic structural features with their rabbit and mouse counterparts. RNA blot hybridization indicated that the tissue-specific expression patterns of the JP genes in human are essentially the same as those in mouse; JP1 was expressed as a 4.5-kb transcript in skeletal muscle and at low levels in heart, JP2 was expressed as a 4.1-kb transcript in heart and skeletal muscle, and JP3 was expressed as a 4.6-kb transcript in brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891348" 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>Using Northern and Western blot analyses, <a href="#5" class="mim-tip-reference" title="Nishi, M., Sakagami, H., Komazaki, S., Kondo, H., Takeshima, H. <strong>Coexpression of junctophilin type 3 and type 4 in brain.</strong> Molec. Brain Res. 118: 102-110, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14559359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14559359</a>] [<a href="https://doi.org/10.1016/s0169-328x(03)00341-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14559359">Nishi et al. (2003)</a> found that Jp3 and Jp4 (JPH4; <a href="/entry/619863">619863</a>) were coexpressed in mouse brain. Both genes were expressed in a neuron-specific manner during developmental stages. In hippocampal pyramidal neurons, both Jp3 and Jp4 showed somatodendritic localization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14559359" 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>Each JPH gene contains 5 exons (<a href="#4" class="mim-tip-reference" title="Nishi, M., Mizushima, A., Nakagawara, K., Takeshima, H. <strong>Characterization of human junctophilin subtype genes.</strong> Biochem. Biophys. Res. Commun. 273: 920-927, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891348</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10891348">Nishi et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891348" 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 FISH, <a href="#4" class="mim-tip-reference" title="Nishi, M., Mizushima, A., Nakagawara, K., Takeshima, H. <strong>Characterization of human junctophilin subtype genes.</strong> Biochem. Biophys. Res. Commun. 273: 920-927, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891348</a>] [<a href="https://doi.org/10.1006/bbrc.2000.3011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10891348">Nishi et al. (2000)</a> mapped the JP3 gene to 16q23-q24 and determined that the JP genes do not cluster on the human genome. <a href="#1" class="mim-tip-reference" title="Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L. <strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong> Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694876</a>] [<a href="https://doi.org/10.1038/ng760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11694876">Holmes et al. (2001)</a>, on the basis of sequence data provided by the Human Genome Project, localized the JPH3 gene to 16q24.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11694876+10891348" 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 microscopic analysis, <a href="#6" class="mim-tip-reference" title="Perni, S., Beam, K. <strong>Neuronal junctophilins recruit specific CaV and RyR isoforms to ER-PM junctions and functionally alter CaV2.1 and CaV2.2.</strong> eLife 10: e64249, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33769283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33769283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33769283[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/10.7554/eLife.64249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33769283">Perni and Beam (2021)</a> showed that heterologous expression of JPH3 or JPH4 induced formation of endoplasmic reticulum (ER)-plasma membrane (PM) junctions in tsA201 human embryonic kidney cells, with recruitment of the neuronal, high voltage-activated calcium channels CaV1.2 (CACNA1C; <a href="/entry/114205">114205</a>), CaV2.1 (CACNA1A; <a href="/entry/601011">601011</a>), and CaV2.2 (CACNA1B; <a href="/entry/601012">601012</a>), but not the low voltage-activated channel CaV3.1 (CACNA1G; <a href="/entry/604065">604065</a>), to the junctions. Expression of JPH3 and JPH4 significantly slowed inactivation of CaV2.1 and CaV2.2, but this ability of JPH3 and JPH4 was independent of formation of ER-PM junctions and rather was a consequence of direct interaction between the channels and JPHs. JPH3 and JPH4 also recruited ryanodine receptors to the ER-PM junctions. However, JPH3 was substantially more effective than JPH4, as JPH3 recruited RyR1 (<a href="/entry/180901">180901</a>), RYR2 (<a href="/entry/180902">180902</a>), and RYR3 (<a href="/entry/180903">180903</a>), whereas JPH4 only recruited RYR3. RYR3 moderately colocalized at junctions with JPH4, whereas RYR1 and RYR2 did not. In contrast, RYR1 and RYR3 strongly colocalized with JPH3, and RYR2 moderately colocalized with it. The cytoplasmic divergent region adjacent to the ER transmembrane segment appeared to be responsible for differential recruitment of ryanodine receptors by JPH3 and JPH4. Mutation analysis showed that JPH3 bound to cytoplasmic domain constructs of RYR1 and RYR3, but not of RYR2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33769283" 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="#2" class="mim-tip-reference" title="Margolis, R. L., O'Hearn, E., Rosenblatt, A., Willour, V., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., Ross, C. A. <strong>A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.</strong> Ann. Neurol. 50: 373-380, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761463</a>] [<a href="https://doi.org/10.1002/ana.1312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761463">Margolis et al. (2001)</a> described a disorder termed Huntington disease-like-2 (HDL2; <a href="/entry/606438">606438</a>) segregating in an autosomal dominant pattern in a large pedigree with an unidentified CAG/CTG expansion. <a href="#1" class="mim-tip-reference" title="Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L. <strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong> Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694876</a>] [<a href="https://doi.org/10.1038/ng760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11694876">Holmes et al. (2001)</a> reported the cloning of this expansion and its localization to a variably spliced exon of JPH3, a gene involved in the formation of junctional membrane structures. All 10 affected individuals tested had a repeat expansion, ranging in size from 51 to 57 triplets, whereas 3 unaffected individuals had 2 unexpanded alleles. The variability of the length of the expanded repeat among sibs from 3 different sibships indicated that the expanded allele is unstable in vertical transmission. There was no apparent correlation between repeat size and age of onset, but the range of repeat length among family members was narrow. The index family was African American; <a href="#1" class="mim-tip-reference" title="Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L. <strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong> Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694876</a>] [<a href="https://doi.org/10.1038/ng760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11694876">Holmes et al. (2001)</a> detected HDL2-related repeat expansions in 4 African American individuals from the southeastern United States, each of whom had a familial Huntington disease-like disorder and had tested negative for the Huntington disease mutation. They demonstrated that the CTG repeat is localized 760 nucleotides 3-prime to the end of exon 1. At least 4 lines of evidence suggested that the CTG repeat is contained within an alternatively spliced exon (termed 2A) of the JPH3 gene that has multiple splice acceptor sites. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11694876+11761463" 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>Among 74 patients with an HD-like phenotype but without CAG repeat expansions in the IT15 gene, <a href="#7" class="mim-tip-reference" title="Stevanin, G., Camuzat, A., Holmes, S. E., Julien, C., Sahloul, R., Dode, C., Hahn-Barma, V., Ross, C. A., Margolis, R. L., Durr, A., Brice, A. <strong>CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.</strong> Neurology 58: 965-967, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11914418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11914418</a>] [<a href="https://doi.org/10.1212/wnl.58.6.965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11914418">Stevanin et al. (2002)</a> identified 1 patient with a pure uninterrupted 50 CAG/CTG repeat in the JPH3 gene. The patient was a 44-year-old Moroccan woman with subcortical dementia, mild choreic movements, and atrophy of the cerebral cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11914418" 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>In 3 members of a family with HLD2, originally reported by <a href="#9" class="mim-tip-reference" title="Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F. <strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong> Neurology 58: 1031-1037, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940688</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940688">Walker et al. (2002)</a> as having choreoacanthocytosis, <a href="#10" class="mim-tip-reference" title="Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L. <strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong> Neurology 61: 1002-1004, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>] [<a href="https://doi.org/10.1212/01.wnl.0000085866.68470.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557581">Walker et al. (2003)</a> identified trinucleotide repeat expansions of 51, 58, and 57 triplets in the JPH3 gene. The authors identified affected members of 2 other families with trinucleotide repeats in the JPH3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11940688+14557581" 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="#3" class="mim-tip-reference" title="Moriguchi, S., Nishi, M., Komazaki, S., Sakagami, H., Miyazaki, T., Masumiya, H., Saito, S., Watanabe, M., Kondo, H., Yawo, H., Fukunaga, K., Takeshima, H. <strong>Functional uncoupling between Ca(2+) release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins.</strong> Proc. Nat. Acad. Sci. 103: 10811-10816, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16809425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16809425</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16809425[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/10.1073/pnas.0509863103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16809425">Moriguchi et al. (2006)</a> found that Jp3 and Jp4 double-knockout (DKO) mice showed severe growth retardation and lethality 3 to 4 weeks after birth due to a feeding defect likely caused by defective saliva secretion. Most mature DKO mice that survived were infertile. In behavioral tests, DKO mice displayed foot-clasping reflex and impaired exploratory activity and memory. DKO brain had no major pathologic defects, with normal size and morphology, but apamin-sensitive afterhyperpolarization (AHP) was completely absent in hippocampal neurons at any resting potentials. In wildtype hippocampal neurons, activation of small-conductance Ca(2+)-activated K+ channels responsible for AHP required ER Ca(2+) release through ryanodine receptors triggered by NMDA receptor (see <a href="/entry/138249">138249</a>)-mediated Ca(2+) influx. The authors proposed that functional communication between NMDA receptors, ryanodine receptors, and small-conductance Ca(2+)-activated K+ channels was disconnected in DKO neurons lacking AHP due to disassembly of junctional membrane complexes. Moreover, hippocampal plasticity was impaired in DKO mice, as DKO neurons showed impaired long-term potentiation and hyperactivation of Ca(2+)/calmodulin-dependent protein kinase II (see <a href="/entry/114078">114078</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16809425" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>1 Selected Example</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605268[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 HUNTINGTON DISEASE-LIKE 2</strong>
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JPH3, CAG(n) REPEAT EXPANSION
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005426" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005426" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005426</a>
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<p>In affected members of an African American family with Huntington disease-like-2 (HDL2; <a href="/entry/606438">606438</a>), <a href="#1" class="mim-tip-reference" title="Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L. <strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong> Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694876</a>] [<a href="https://doi.org/10.1038/ng760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11694876">Holmes et al. (2001)</a> demonstrated a CAG/CTG repeat expansion of about 40 or more triplets in an alternatively spliced exon of the JPH3 gene. <a href="#1" class="mim-tip-reference" title="Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L. <strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong> Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694876</a>] [<a href="https://doi.org/10.1038/ng760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11694876">Holmes et al. (2001)</a> found the same mutation in 4 other African American individuals from the southeastern United States, each of whom had a familial Huntington disease-like disorder and had tested negative for the Huntington disease mutation in the IT15 gene (<a href="/entry/613004">613004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11694876" 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>Among 74 patients with an HD-like phenotype but without CAG repeat expansions in the IT15 gene, <a href="#7" class="mim-tip-reference" title="Stevanin, G., Camuzat, A., Holmes, S. E., Julien, C., Sahloul, R., Dode, C., Hahn-Barma, V., Ross, C. A., Margolis, R. L., Durr, A., Brice, A. <strong>CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.</strong> Neurology 58: 965-967, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11914418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11914418</a>] [<a href="https://doi.org/10.1212/wnl.58.6.965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11914418">Stevanin et al. (2002)</a> identified 1 patient with a pure uninterrupted 50 CAG/CTG repeat in the JPH3 gene. The patient was a 44-year-old Moroccan woman with subcortical dementia, mild choreic movements, and atrophy of the cerebral cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11914418" 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>In 3 members of a family with HLD2, originally reported by <a href="#9" class="mim-tip-reference" title="Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F. <strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong> Neurology 58: 1031-1037, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940688</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940688">Walker et al. (2002)</a> as having choreoacanthocytosis, <a href="#10" class="mim-tip-reference" title="Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L. <strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong> Neurology 61: 1002-1004, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>] [<a href="https://doi.org/10.1212/01.wnl.0000085866.68470.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557581">Walker et al. (2003)</a> identified trinucleotide repeat expansions of 51, 58, and 57 triplets in the JPH3 gene. The authors identified affected members of 2 other families with trinucleotide repeats in the JPH3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11940688+14557581" 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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Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L.
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<strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong>
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Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11694876" 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/ng760" target="_blank">Full Text</a>]
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Margolis, R. L., O'Hearn, E., Rosenblatt, A., Willour, V., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., Ross, C. A.
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<strong>A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.</strong>
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Ann. Neurol. 50: 373-380, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761463" 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/10.1002/ana.1312" target="_blank">Full Text</a>]
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Moriguchi, S., Nishi, M., Komazaki, S., Sakagami, H., Miyazaki, T., Masumiya, H., Saito, S., Watanabe, M., Kondo, H., Yawo, H., Fukunaga, K., Takeshima, H.
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<strong>Functional uncoupling between Ca(2+) release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins.</strong>
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Proc. Nat. Acad. Sci. 103: 10811-10816, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16809425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16809425</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16809425[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=16809425" 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/10.1073/pnas.0509863103" target="_blank">Full Text</a>]
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Nishi, M., Mizushima, A., Nakagawara, K., Takeshima, H.
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<strong>Characterization of human junctophilin subtype genes.</strong>
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Biochem. Biophys. Res. Commun. 273: 920-927, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10891348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10891348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10891348" 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/10.1006/bbrc.2000.3011" target="_blank">Full Text</a>]
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Nishi, M., Sakagami, H., Komazaki, S., Kondo, H., Takeshima, H.
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<strong>Coexpression of junctophilin type 3 and type 4 in brain.</strong>
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Molec. Brain Res. 118: 102-110, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14559359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14559359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14559359" 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/10.1016/s0169-328x(03)00341-3" target="_blank">Full Text</a>]
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Perni, S., Beam, K.
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<strong>Neuronal junctophilins recruit specific CaV and RyR isoforms to ER-PM junctions and functionally alter CaV2.1 and CaV2.2.</strong>
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eLife 10: e64249, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33769283/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33769283</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33769283[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=33769283" 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/10.7554/eLife.64249" target="_blank">Full Text</a>]
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Stevanin, G., Camuzat, A., Holmes, S. E., Julien, C., Sahloul, R., Dode, C., Hahn-Barma, V., Ross, C. A., Margolis, R. L., Durr, A., Brice, A.
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<strong>CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.</strong>
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Neurology 58: 965-967, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11914418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11914418</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11914418" 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/10.1212/wnl.58.6.965" target="_blank">Full Text</a>]
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Takeshima, H., Komazaki, S., Nishi, M., Iino, M., Kangawa, K.
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<strong>Junctophilins: a novel family of junctional membrane complex proteins.</strong>
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Molec. Cell 6: 11-22, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10949023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10949023</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10949023" 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/10.1016/s1097-2765(00)00003-4" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Walker2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F.
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<strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong>
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Neurology 58: 1031-1037, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940688" 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/10.1212/wnl.58.7.1031" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Walker2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L.
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<strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong>
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Neurology 61: 1002-1004, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557581" 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/10.1212/01.wnl.0000085866.68470.6d" target="_blank">Full Text</a>]
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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 04/28/2022
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 11/5/2001
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Stylianos E. Antonarakis : 9/14/2000
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 04/28/2022
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 11/01/2019<br>carol : 08/17/2018<br>carol : 08/16/2018<br>joanna : 08/15/2018<br>ckniffin : 03/04/2009<br>ckniffin : 6/14/2007<br>terry : 11/16/2006<br>alopez : 2/20/2002<br>joanna : 1/23/2002<br>alopez : 11/20/2001<br>alopez : 11/14/2001<br>alopez : 11/5/2001<br>terry : 11/5/2001<br>joanna : 12/8/2000<br>mgross : 9/14/2000
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605268
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<div>
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<h3>
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<span class="mim-font">
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JUNCTOPHILIN 3; JPH3
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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JP3
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: JPH3</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 721228006;
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<strong>
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<em>
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Cytogenetic location: 16q24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:87,601,835-87,698,156 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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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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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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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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16q24.2
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</td>
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<td>
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<span class="mim-font">
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Huntington disease-like 2
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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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606438
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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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</table>
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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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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The JPH3 gene encodes junctophilin-3, a member of a conserved family of proteins that are components of junctional complexes. Junctional complexes between the plasma membrane (PM) and endoplasmic/sarcoplasmic reticulum (ER/SR) are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. Junctophilins (JPs or JPHs) are composed of a C-terminal hydrophobic segment spanning the ER/SR membrane and a remaining cytoplasmic domain that shows specific affinity for the PM. In mouse, there are at least 3 JP subtypes: Jp1, Jp2, and Jp3 (summary by Takeshima et al., 2000). </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>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By screening genomic DNA libraries, Nishi et al. (2000) isolated the human JP1 (605266) and JP2 (605267) genes, and by screening a brain cDNA library, they isolated a cDNA encoding human JP3. The JP3 gene encodes a deduced 748-amino acid protein. The human JPs share an overall sequence identity of 39%, and they share characteristic structural features with their rabbit and mouse counterparts. RNA blot hybridization indicated that the tissue-specific expression patterns of the JP genes in human are essentially the same as those in mouse; JP1 was expressed as a 4.5-kb transcript in skeletal muscle and at low levels in heart, JP2 was expressed as a 4.1-kb transcript in heart and skeletal muscle, and JP3 was expressed as a 4.6-kb transcript in brain. </p><p>Using Northern and Western blot analyses, Nishi et al. (2003) found that Jp3 and Jp4 (JPH4; 619863) were coexpressed in mouse brain. Both genes were expressed in a neuron-specific manner during developmental stages. In hippocampal pyramidal neurons, both Jp3 and Jp4 showed somatodendritic localization. </p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</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>Each JPH gene contains 5 exons (Nishi et al., 2000). </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">
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<p>By FISH, Nishi et al. (2000) mapped the JP3 gene to 16q23-q24 and determined that the JP genes do not cluster on the human genome. Holmes et al. (2001), on the basis of sequence data provided by the Human Genome Project, localized the JPH3 gene to 16q24.3. </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>By microscopic analysis, Perni and Beam (2021) showed that heterologous expression of JPH3 or JPH4 induced formation of endoplasmic reticulum (ER)-plasma membrane (PM) junctions in tsA201 human embryonic kidney cells, with recruitment of the neuronal, high voltage-activated calcium channels CaV1.2 (CACNA1C; 114205), CaV2.1 (CACNA1A; 601011), and CaV2.2 (CACNA1B; 601012), but not the low voltage-activated channel CaV3.1 (CACNA1G; 604065), to the junctions. Expression of JPH3 and JPH4 significantly slowed inactivation of CaV2.1 and CaV2.2, but this ability of JPH3 and JPH4 was independent of formation of ER-PM junctions and rather was a consequence of direct interaction between the channels and JPHs. JPH3 and JPH4 also recruited ryanodine receptors to the ER-PM junctions. However, JPH3 was substantially more effective than JPH4, as JPH3 recruited RyR1 (180901), RYR2 (180902), and RYR3 (180903), whereas JPH4 only recruited RYR3. RYR3 moderately colocalized at junctions with JPH4, whereas RYR1 and RYR2 did not. In contrast, RYR1 and RYR3 strongly colocalized with JPH3, and RYR2 moderately colocalized with it. The cytoplasmic divergent region adjacent to the ER transmembrane segment appeared to be responsible for differential recruitment of ryanodine receptors by JPH3 and JPH4. Mutation analysis showed that JPH3 bound to cytoplasmic domain constructs of RYR1 and RYR3, but not of RYR2. </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">
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<p>Margolis et al. (2001) described a disorder termed Huntington disease-like-2 (HDL2; 606438) segregating in an autosomal dominant pattern in a large pedigree with an unidentified CAG/CTG expansion. Holmes et al. (2001) reported the cloning of this expansion and its localization to a variably spliced exon of JPH3, a gene involved in the formation of junctional membrane structures. All 10 affected individuals tested had a repeat expansion, ranging in size from 51 to 57 triplets, whereas 3 unaffected individuals had 2 unexpanded alleles. The variability of the length of the expanded repeat among sibs from 3 different sibships indicated that the expanded allele is unstable in vertical transmission. There was no apparent correlation between repeat size and age of onset, but the range of repeat length among family members was narrow. The index family was African American; Holmes et al. (2001) detected HDL2-related repeat expansions in 4 African American individuals from the southeastern United States, each of whom had a familial Huntington disease-like disorder and had tested negative for the Huntington disease mutation. They demonstrated that the CTG repeat is localized 760 nucleotides 3-prime to the end of exon 1. At least 4 lines of evidence suggested that the CTG repeat is contained within an alternatively spliced exon (termed 2A) of the JPH3 gene that has multiple splice acceptor sites. </p><p>Among 74 patients with an HD-like phenotype but without CAG repeat expansions in the IT15 gene, Stevanin et al. (2002) identified 1 patient with a pure uninterrupted 50 CAG/CTG repeat in the JPH3 gene. The patient was a 44-year-old Moroccan woman with subcortical dementia, mild choreic movements, and atrophy of the cerebral cortex. </p><p>In 3 members of a family with HLD2, originally reported by Walker et al. (2002) as having choreoacanthocytosis, Walker et al. (2003) identified trinucleotide repeat expansions of 51, 58, and 57 triplets in the JPH3 gene. The authors identified affected members of 2 other families with trinucleotide repeats in the JPH3 gene. </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>Animal Model</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>Moriguchi et al. (2006) found that Jp3 and Jp4 double-knockout (DKO) mice showed severe growth retardation and lethality 3 to 4 weeks after birth due to a feeding defect likely caused by defective saliva secretion. Most mature DKO mice that survived were infertile. In behavioral tests, DKO mice displayed foot-clasping reflex and impaired exploratory activity and memory. DKO brain had no major pathologic defects, with normal size and morphology, but apamin-sensitive afterhyperpolarization (AHP) was completely absent in hippocampal neurons at any resting potentials. In wildtype hippocampal neurons, activation of small-conductance Ca(2+)-activated K+ channels responsible for AHP required ER Ca(2+) release through ryanodine receptors triggered by NMDA receptor (see 138249)-mediated Ca(2+) influx. The authors proposed that functional communication between NMDA receptors, ryanodine receptors, and small-conductance Ca(2+)-activated K+ channels was disconnected in DKO neurons lacking AHP due to disassembly of junctional membrane complexes. Moreover, hippocampal plasticity was impaired in DKO mice, as DKO neurons showed impaired long-term potentiation and hyperactivation of Ca(2+)/calmodulin-dependent protein kinase II (see 114078). </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>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>1 Selected Example):</strong>
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</span>
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</h4>
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<div>
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<p />
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<span class="mim-font">
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<strong>.0001 HUNTINGTON DISEASE-LIKE 2</strong>
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JPH3, CAG(n) REPEAT EXPANSION
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ClinVar: RCV000005426
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<p>In affected members of an African American family with Huntington disease-like-2 (HDL2; 606438), Holmes et al. (2001) demonstrated a CAG/CTG repeat expansion of about 40 or more triplets in an alternatively spliced exon of the JPH3 gene. Holmes et al. (2001) found the same mutation in 4 other African American individuals from the southeastern United States, each of whom had a familial Huntington disease-like disorder and had tested negative for the Huntington disease mutation in the IT15 gene (613004). </p><p>Among 74 patients with an HD-like phenotype but without CAG repeat expansions in the IT15 gene, Stevanin et al. (2002) identified 1 patient with a pure uninterrupted 50 CAG/CTG repeat in the JPH3 gene. The patient was a 44-year-old Moroccan woman with subcortical dementia, mild choreic movements, and atrophy of the cerebral cortex. </p><p>In 3 members of a family with HLD2, originally reported by Walker et al. (2002) as having choreoacanthocytosis, Walker et al. (2003) identified trinucleotide repeat expansions of 51, 58, and 57 triplets in the JPH3 gene. The authors identified affected members of 2 other families with trinucleotide repeats in the JPH3 gene. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L.
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<strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong>
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Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.
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[PubMed: 11694876]
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[Full Text: https://doi.org/10.1038/ng760]
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Margolis, R. L., O'Hearn, E., Rosenblatt, A., Willour, V., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., Ross, C. A.
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<strong>A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.</strong>
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Ann. Neurol. 50: 373-380, 2001.
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[PubMed: 11761463]
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[Full Text: https://doi.org/10.1002/ana.1312]
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Moriguchi, S., Nishi, M., Komazaki, S., Sakagami, H., Miyazaki, T., Masumiya, H., Saito, S., Watanabe, M., Kondo, H., Yawo, H., Fukunaga, K., Takeshima, H.
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<strong>Functional uncoupling between Ca(2+) release and afterhyperpolarization in mutant hippocampal neurons lacking junctophilins.</strong>
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Proc. Nat. Acad. Sci. 103: 10811-10816, 2006.
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[PubMed: 16809425]
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[Full Text: https://doi.org/10.1073/pnas.0509863103]
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<p class="mim-text-font">
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Nishi, M., Mizushima, A., Nakagawara, K., Takeshima, H.
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<strong>Characterization of human junctophilin subtype genes.</strong>
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Biochem. Biophys. Res. Commun. 273: 920-927, 2000.
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[PubMed: 10891348]
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[Full Text: https://doi.org/10.1006/bbrc.2000.3011]
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<p class="mim-text-font">
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Nishi, M., Sakagami, H., Komazaki, S., Kondo, H., Takeshima, H.
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<strong>Coexpression of junctophilin type 3 and type 4 in brain.</strong>
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Molec. Brain Res. 118: 102-110, 2003.
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[PubMed: 14559359]
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[Full Text: https://doi.org/10.1016/s0169-328x(03)00341-3]
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<p class="mim-text-font">
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Perni, S., Beam, K.
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<strong>Neuronal junctophilins recruit specific CaV and RyR isoforms to ER-PM junctions and functionally alter CaV2.1 and CaV2.2.</strong>
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eLife 10: e64249, 2021.
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[PubMed: 33769283]
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[Full Text: https://doi.org/10.7554/eLife.64249]
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<p class="mim-text-font">
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Stevanin, G., Camuzat, A., Holmes, S. E., Julien, C., Sahloul, R., Dode, C., Hahn-Barma, V., Ross, C. A., Margolis, R. L., Durr, A., Brice, A.
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<strong>CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.</strong>
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Neurology 58: 965-967, 2002.
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[PubMed: 11914418]
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[Full Text: https://doi.org/10.1212/wnl.58.6.965]
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<p class="mim-text-font">
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Takeshima, H., Komazaki, S., Nishi, M., Iino, M., Kangawa, K.
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<strong>Junctophilins: a novel family of junctional membrane complex proteins.</strong>
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Molec. Cell 6: 11-22, 2000.
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[PubMed: 10949023]
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[Full Text: https://doi.org/10.1016/s1097-2765(00)00003-4]
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<p class="mim-text-font">
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Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F.
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<strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong>
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Neurology 58: 1031-1037, 2002.
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[PubMed: 11940688]
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[Full Text: https://doi.org/10.1212/wnl.58.7.1031]
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<p class="mim-text-font">
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Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L.
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<strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong>
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Neurology 61: 1002-1004, 2003.
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[PubMed: 14557581]
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[Full Text: https://doi.org/10.1212/01.wnl.0000085866.68470.6d]
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<span class="mim-text-font">
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Bao Lige - updated : 04/28/2022<br>Victor A. McKusick - updated : 11/5/2001
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Stylianos E. Antonarakis : 9/14/2000
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