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<title>
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Entry
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- *613121 - NEXILIN F-ACTIN-BINDING PROTEIN; NEXN
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- OMIM
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<div class="container">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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<a href="/history"> Search History </a>
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</form>
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<div class="row">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*613121</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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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<li role="presentation" style="margin-left: 1em">
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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/613121">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>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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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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</li>
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</ul>
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</nav>
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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=ENSG00000162614;t=ENST00000334785" 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=91624" 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=613121" 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=ENSG00000162614;t=ENST00000334785" 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_001172309,NM_144573,XM_005271322,XM_005271323,XM_005271324,XM_005271325,XM_005271327" 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_144573" 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=613121" 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=11388&isoform_id=11388_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/NEXN" 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/452945,4768675,16553944,29164867,32822730,33338072,60219522,93009033,109730341,109731483,114205458,118142875,119626764,119626765,119626766,119626767,121945484,148839339,194374177,194375592,194391282,288856248,530363577,530363579,530363581,530363583,530363587,1471157330,1471157332,2462515362,2462515364,2462515366,2462515368,2462515370" 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/Q0ZGT2" 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=91624" 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=ENSG00000162614;t=ENST00000334785" 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=NEXN" 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=NEXN" 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+91624" 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/NEXN" 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:91624" 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/91624" 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=chr1&hgg_gene=ENST00000334785.12&hgg_start=77888624&hgg_end=77943895&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:29557" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613121[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613121[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/NEXN/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000162614" 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=NEXN" 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=NEXN" 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=NEXN" 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=NEXN&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/PA134974801" 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:29557" 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://www.mousephenotype.org/data/genes/MGI:1916060" 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/NEXN#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:1916060" 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/91624/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=91624" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-041114-92" 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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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=NEXN&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
613121
|
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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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NEXILIN F-ACTIN-BINDING PROTEIN; NEXN
|
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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>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
NEXILIN, RAT, HOMOLOG OF<br />
|
|
NEXILIN-LIKE PROTEIN; NELIN
|
|
</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>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=NEXN" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NEXN</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/1/739?start=-3&limit=10&highlight=739">1p31.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:77888624-77943895&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'})">1:77,888,624-77,943,895</a> </span>
|
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</em>
|
|
</strong>
|
|
<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>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<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>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=613122,613876" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/739?start=-3&limit=10&highlight=739">
|
|
1p31.1
|
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</a>
|
|
</span>
|
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</td>
|
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|
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<td>
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<p>NEXN is a filamentous actin (F-actin; see <a href="/entry/102560">102560</a>)-binding protein that localizes to focal contacts and may be involved in cell adhesion and migration (<a href="#3" class="mim-tip-reference" title="Ohtsuka, T., Nakanishi, H., Ikeda, W., Satoh, A., Momose, Y., Nishioka, H., Takai, Y. <strong>Nexilin: a novel actin filament-binding protein localized at cell-matrix adherens junction.</strong> J. Cell Biol. 143: 1227-1238, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832551</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9832551[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.143.5.1227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832551">Ohtsuka et al., 1998</a>; <a href="#5" class="mim-tip-reference" title="Wang, W., Zhang, W., Han, Y., Chen, J., Wang, Y., Zhang, Z., Hui, R. <strong>NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion.</strong> Biochem. Biophys. Res. Commun. 330: 1127-1131, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15823560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15823560</a>] [<a href="https://doi.org/10.1016/j.bbrc.2005.03.082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15823560">Wang et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9832551+15823560" 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="Ohtsuka, T., Nakanishi, H., Ikeda, W., Satoh, A., Momose, Y., Nishioka, H., Takai, Y. <strong>Nexilin: a novel actin filament-binding protein localized at cell-matrix adherens junction.</strong> J. Cell Biol. 143: 1227-1238, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832551</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9832551[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.143.5.1227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832551">Ohtsuka et al. (1998)</a> cloned 2 splice variants of rat nexilin, which they called b-nexilin and s-nexilin, from brain and cultured fibroblasts, respectively. The name nexilin came from the Latin word nexilis, meaning 'bound together.' Full-length b-nexilin contains an N-terminal F-actin-binding domain (ABD), followed by a spacer, a coiled-coil region, a second ABD, and a long C-terminal tail. In comparison, s-nexilin lacks the N-terminal ABD and has an insertion in the C-terminal tail. Immunofluorescence microscopy revealed that both b-nexilin and s-nexilin colocalized with F-actin at focal contacts at the ends of stress fibers. The nexilins did not localize to cell-cell junctions. Western blot analysis detected nexilin proteins with apparent molecular masses above 90 kD in rat brain, testis, and spleen and in cultured rodent fibroblasts. Neither protein was detected in liver, kidney, or epithelial cell lines. <a href="#4" class="mim-tip-reference" title="Wang, H., Li, Z., Wang, J., Sun, K., Cui, Q., Song, L., Zou, Y., Wang, X., Liu, X., Hui, R., Fan, Y. <strong>Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.</strong> Am. J. Hum. Genet. 87: 687-693, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20970104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20970104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20970104[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/10.1016/j.ajhg.2010.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20970104">Wang et al. (2010)</a> stated that the full-length nexilin protein contains 675 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9832551+20970104" 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>By sequencing clones obtained from a heart cDNA library and by EST database analysis, <a href="#6" class="mim-tip-reference" title="Zhao, Y., Wei, Y.-J., Cao, H.-Q., Ding, J.-F. <strong>Molecular cloning of NELIN, a putative human cytoskeleton regulation gene.</strong> Acta Biochim. Biophys. Sinica 33: 19-24, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12053183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12053183</a>]" pmid="12053183">Zhao et al. (2001)</a> cloned human nexilin, which they called NELIN. The deduced 493-amino acid protein contains an N-terminal FERIN-like domain, followed by an ABD and a C-terminal immunoglobulin domain. It also has 2 nuclear localization signals. Northern blot analysis detected a major 4.0-kb transcript in adult and fetal heart and skeletal muscle only. A minor 2.7-kb transcript, representing the NELIN cDNA cloned by <a href="#6" class="mim-tip-reference" title="Zhao, Y., Wei, Y.-J., Cao, H.-Q., Ding, J.-F. <strong>Molecular cloning of NELIN, a putative human cytoskeleton regulation gene.</strong> Acta Biochim. Biophys. Sinica 33: 19-24, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12053183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12053183</a>]" pmid="12053183">Zhao et al. (2001)</a>, was detected in adult and fetal heart only. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12053183" 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 RT-PCR, <a href="#5" class="mim-tip-reference" title="Wang, W., Zhang, W., Han, Y., Chen, J., Wang, Y., Zhang, Z., Hui, R. <strong>NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion.</strong> Biochem. Biophys. Res. Commun. 330: 1127-1131, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15823560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15823560</a>] [<a href="https://doi.org/10.1016/j.bbrc.2005.03.082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15823560">Wang et al. (2005)</a> cloned NELIN from umbilical vein wall mRNA. The deduced protein contains 447 amino acids. Northern blot analysis detected a major transcript of about 3.0 kb in heart and skeletal muscle. Fluorescence-tagged NELIN localized predominantly to the cytoplasm of transfected HeLa cells, with some perinuclear concentration. NELIN colocalized with F-actin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15823560" 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 whole-mount antisense RNA in situ hybridization, <a href="#1" class="mim-tip-reference" title="Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. <strong>Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.</strong> Nature Med. 15: 1281-1288, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881492</a>] [<a href="https://doi.org/10.1038/nm.2037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881492">Hassel et al. (2009)</a> found that NEXN expression first became detectable in the developing somite and zebrafish heart tube and remained restricted to the heart and skeletal muscle throughout embryogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881492" 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="#4" class="mim-tip-reference" title="Wang, H., Li, Z., Wang, J., Sun, K., Cui, Q., Song, L., Zou, Y., Wang, X., Liu, X., Hui, R., Fan, Y. <strong>Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.</strong> Am. J. Hum. Genet. 87: 687-693, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20970104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20970104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20970104[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/10.1016/j.ajhg.2010.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20970104">Wang et al. (2010)</a> noted that the NEXN gene contains 13 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20970104" 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 genomic sequence analysis, <a href="#6" class="mim-tip-reference" title="Zhao, Y., Wei, Y.-J., Cao, H.-Q., Ding, J.-F. <strong>Molecular cloning of NELIN, a putative human cytoskeleton regulation gene.</strong> Acta Biochim. Biophys. Sinica 33: 19-24, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12053183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12053183</a>]" pmid="12053183">Zhao et al. (2001)</a> mapped the NEXN gene to chromosome 1p32-p31. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12053183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. <strong>Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.</strong> Nature Med. 15: 1281-1288, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881492</a>] [<a href="https://doi.org/10.1038/nm.2037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881492">Hassel et al. (2009)</a> noted that the NEXN gene maps to chromosome 1p31.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881492" 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>Using F-actin and deletion constructs of recombinant rat nexilins in cosedimentation assays, <a href="#3" class="mim-tip-reference" title="Ohtsuka, T., Nakanishi, H., Ikeda, W., Satoh, A., Momose, Y., Nishioka, H., Takai, Y. <strong>Nexilin: a novel actin filament-binding protein localized at cell-matrix adherens junction.</strong> J. Cell Biol. 143: 1227-1238, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832551</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9832551[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.143.5.1227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832551">Ohtsuka et al. (1998)</a> showed that b-nexilin has 2 ABDs and that s-nexilin has a single ABD. The coiled-coil region and the second ABD were required for localization of b-nexilin and s-nexilin at focal contacts. Pretreatment of F-actin with myosin (see <a href="/entry/160730">160730</a>) subfragment-1, which binds along the sides of F-actin, inhibited F-actin binding by b-nexilin. This inhibition was reversed by MgATP, which dissociates the actin-myosin complex. B-nexilin, but not s-nexilin, increased the viscosity of the nexilin-F-actin complex, and electron microscopy showed that the increased viscosity was due to F-actin crosslink formation by b-nexilin. The stoichiometry of nexilin-F-actin binding appeared to be 1 b-nexilin molecule per about 9 actin molecules and 1 s-nexilin molecule per about 10 actin molecules. <a href="#3" class="mim-tip-reference" title="Ohtsuka, T., Nakanishi, H., Ikeda, W., Satoh, A., Momose, Y., Nishioka, H., Takai, Y. <strong>Nexilin: a novel actin filament-binding protein localized at cell-matrix adherens junction.</strong> J. Cell Biol. 143: 1227-1238, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832551</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9832551[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1083/jcb.143.5.1227" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832551">Ohtsuka et al. (1998)</a> concluded that the nexilins bind along the sides of F-actin, and that the second ABD of b-nexilin is engaged in F-actin crosslinking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9832551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Wang, W., Zhang, W., Han, Y., Chen, J., Wang, Y., Zhang, Z., Hui, R. <strong>NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion.</strong> Biochem. Biophys. Res. Commun. 330: 1127-1131, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15823560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15823560</a>] [<a href="https://doi.org/10.1016/j.bbrc.2005.03.082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15823560">Wang et al. (2005)</a> found that epitope-tagged NELIN coimmunoprecipitated with F-actin from rat PC12 cells. HeLa cells overexpressing NELIN showed increased cell migration and elevated adhesion compared with control cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15823560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. <strong>Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.</strong> Nature Med. 15: 1281-1288, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881492</a>] [<a href="https://doi.org/10.1038/nm.2037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881492">Hassel et al. (2009)</a> inactivated zebrafish nexilin by morpholino injection and observed development of severe heart failure. The authors found that nexilin was dispensable for early heart development, differentiation of cardiomyocytes, and expression of contractile elements, but analysis of the ultrastructure of cardiac muscle cells revealed that although the primary organization of thick and thin filaments was normal in nexilin-deficient zebrafish hearts, sarcomeric units were disrupted and frequently detached from the irregular and blurry Z discs, leaving sarcomeres in tatters. Sarcomere damage became more extensive as the embryos aged from 48 to 72 hours after fertilization, suggesting that nexilin has an essential role in the maintenance of Z disc and sarcomere integrity rather than in the primary assembly of these structures. Increasing mechanical strain aggravated Z disc damage in nexilin-deficient skeletal muscle, implying a unique role of nexilin in protecting Z discs from mechanical trauma. Immunoprecipitation-western blotting assays indicated that nexilin forms a complex with alpha-actin (see <a href="/entry/102540">102540</a>), beta-actin (<a href="/entry/102630">102630</a>), and alpha-actinin (see <a href="/entry/102575">102575</a>) at the cardiac Z disc. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Hu, Y.-W., Guo, F.-X., Xu, Y.-J., Li, P., Lu, Z.-F., McVey, D. G., Zheng, L., Wang, Q., Ye, J. H., Kang, C.-M., Wu, S.-G., Zhao, J.-J., and 12 others. <strong>Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN.</strong> J. Clin. Invest. 129: 1115-1128, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30589415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30589415</a>] [<a href="https://doi.org/10.1172/JCI98230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30589415">Hu et al. (2019)</a> found that expression of NEXN and its antisense long noncoding RNA (lncRNA), NEXNAS1 (<a href="/entry/618370">618370</a>), was lower in human atherosclerotic plaques compared with healthy aortic tissue. NEXNAS1 overexpression in vascular endothelial cells increased NEXN expression, whereas knockdown of NEXNAS1 decreased NEXN expression. In vitro experiments revealed that NEXNAS1 interacted with the 5-prime flanking region of the NEXN gene. The 5-prime region of NEXNAS1 also interacted with the chromatin remodeler BAZ1A (<a href="/entry/605680">605680</a>). Knockdown of BAZ1A in vascular endothelial cells resulted in an open chromatin state in the 5-prime flanking region of NEXN, leading to increased NEXN expression, and this effect was enhanced by increased NEXNAS1 expression. Increased NEXNAS1 and NEXN expression suppressed the TLR4 (<a href="/entry/603030">603030</a>)/NF-kappa-B (see <a href="/entry/164011">164011</a>) pathway, downregulated expression of inflammatory genes in endothelial cells, and reduced adhesion of monocytes to endothelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30589415" 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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Because of evidence that loss of nexilin leads to severe cardiomyopathy in zebrafish, <a href="#1" class="mim-tip-reference" title="Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. <strong>Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.</strong> Nature Med. 15: 1281-1288, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881492</a>] [<a href="https://doi.org/10.1038/nm.2037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881492">Hassel et al. (2009)</a> analyzed the NEXN gene in 90 patients diagnosed with idiopathic dilated cardiomyopathy (CMD) and identified heterozygosity for a 3-bp deletion (G650del; <a href="#0001">613121.0001</a>) in 2 patients with CMD1CC (<a href="/entry/613122">613122</a>). Screening of the entire NEXN coding sequence in an additional 910 CMD patients revealed the G650del mutation in 4 more patients. In addition, 2 heterozygous missense mutations were detected, Y652C in 2 patients (<a href="#0002">613121.0002</a>) and P611T in 1 patient (<a href="#0003">613121.0003</a>). None of the mutations were found in 1,251 age-, gender-, ethnicity- and geography-matched controls. All mutation-positive patients were screened for mutations in other known CMD-associated genes, but no mutations were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881492" 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><strong><em>Hypertrophic Cardiomyopathy 20</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Wang, H., Li, Z., Wang, J., Sun, K., Cui, Q., Song, L., Zou, Y., Wang, X., Liu, X., Hui, R., Fan, Y. <strong>Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.</strong> Am. J. Hum. Genet. 87: 687-693, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20970104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20970104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20970104[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/10.1016/j.ajhg.2010.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20970104">Wang et al. (2010)</a> analyzed the NEXN gene in 121 unrelated Han Chinese patients with CMH who were negative for mutations in 8 common myofilament-associated genes responsible for CMH, and they identified 2 heterozygous missense mutations in 2 probands (<a href="#0004">613121.0004</a> and <a href="#0005">613121.0005</a>, respectively) that were located at highly conserved residues, segregated with disease in each family, and were not found in 192 ethnically matched controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20970104" 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="Hu, Y.-W., Guo, F.-X., Xu, Y.-J., Li, P., Lu, Z.-F., McVey, D. G., Zheng, L., Wang, Q., Ye, J. H., Kang, C.-M., Wu, S.-G., Zhao, J.-J., and 12 others. <strong>Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN.</strong> J. Clin. Invest. 129: 1115-1128, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30589415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30589415</a>] [<a href="https://doi.org/10.1172/JCI98230" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30589415">Hu et al. (2019)</a> found that Nexn +/- mice on an Apoe (<a href="/entry/107741">107741</a>) -/- background fed a Western high-fat diet had more atherosclerosis, higher levels of Tlr4, and increased expression of adhesion molecules, inflammatory cytokines, and matrix metalloproteinases compared with Nexn +/+ Apoe -/- mice. Conversely, Apoe -/- mice with Nexn overexpression had smaller atherosclerotic plaques compared with controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30589415" 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>In 6 patients with dilated cardiomyopathy (CMD1CC; <a href="/entry/613122">613122</a>), <a href="#1" class="mim-tip-reference" title="Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. <strong>Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.</strong> Nature Med. 15: 1281-1288, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881492</a>] [<a href="https://doi.org/10.1038/nm.2037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881492">Hassel et al. (2009)</a> identified heterozygosity for a 3-bp deletion in the NEXN gene, resulting loss of a conserved gly650 residue (G650del). The deletion was not found in 1,251 age-, gender-, ethnicity- and geography-matched controls. One proband had a mildly affected brother who carried the deletion and an asymptomatic 33-year-old daughter, who declined further evaluation. Two probands had fathers who did not carry the deletion, and both obligate-carrier mothers had died of cardiac failure; 1 of the 2 probands also had 2 brothers who had died of cardiac failure. All G650del carriers shared an identical haplotype over a large genomic region surrounding the NEXN gene, suggesting a founder effect. Ultrastructural analysis of myocardial biopsy tissue from a G650del patient showed disruption of sarcomeric units with detached and blurry Z discs, similar to that seen in NEXN-deficient zebrafish. Ectopic expression of G650-deleted nexilin in zebrafish resulted in dilated cardiomyopathy, with markedly reduced systolic function and Z disc disruption. Injection of an equal amount of wildtype nexilin had no effect on cardiac function or ultrastructure, indicating a dominant-negative effect of the mutant nexilin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881492" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137853197 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853197;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137853197?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137853197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137853197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 patients with dilated cardiomyopathy (CMD1CC; <a href="/entry/613121">613121</a>), <a href="#1" class="mim-tip-reference" title="Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. <strong>Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.</strong> Nature Med. 15: 1281-1288, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881492</a>] [<a href="https://doi.org/10.1038/nm.2037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881492">Hassel et al. (2009)</a> identified heterozygosity for a 1955A-G transition in the NEXN gene, resulting in a tyr652-to-cys (Y652C) substitution at a highly conserved residue. Both probands had a parent who had died of dilated cardiomyopathy; 1 proband underwent heart transplantation at age 60 years due to progressive dilated cardiomyopathy. The 2 Y652C mutation carriers shared a common haplotype that was distinct from the G650del (<a href="#0001">613121.0001</a>)-associated haplotype, suggesting a distinct founder effect; the mutation was not found in 1,251 age-, gender-, ethnicity- and geography-matched controls. Ultrastructural analysis of myocardial biopsy tissue from a Y652C patient showed disruption of sarcomeric units with detached and blurry Z discs, similar to that seen in NEXN-deficient zebrafish. Ectopic expression of Y652C-mutated nexilin in zebrafish resulted in dilated cardiomyopathy, with markedly reduced systolic function and Z disc disruption. Injection of an equal amount of wildtype nexilin had no effect on cardiac function or ultrastructure, indicating a dominant-negative effect of the mutant nexilin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881492" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137853198 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853198;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137853198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs137853198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000355 OR RCV004018524" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000355, RCV004018524" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000355...</a>
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<p>In a patient with dilated cardiomyopathy (CMD1CC; <a href="/entry/613121">613121</a>), <a href="#1" class="mim-tip-reference" title="Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. <strong>Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.</strong> Nature Med. 15: 1281-1288, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881492</a>] [<a href="https://doi.org/10.1038/nm.2037" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19881492">Hassel et al. (2009)</a> identified heterozygosity for a 1831C-A transversion in the NEXN gene, resulting in a pro611-to-thr (P611T) substitution at a highly conserved residue that was not found in 1,251 age-, gender-, ethnicity- and geography-matched controls. Ectopic expression of P611T-mutated nexilin in zebrafish resulted in dilated cardiomyopathy, with markedly reduced systolic function and Z disc disruption; injection of an equal amount of wildtype nexilin had no effect on cardiac function or ultrastructure, indicating a dominant-negative effect of the mutant nexilin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20</strong>
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NEXN, GLN131GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387907079 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907079;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387907079?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387907079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023984" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023984" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023984</a>
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<p>In a 37-year-old Han Chinese woman with familial hypertrophic cardiomyopathy (CMH20; <a href="/entry/613876">613876</a>), <a href="#4" class="mim-tip-reference" title="Wang, H., Li, Z., Wang, J., Sun, K., Cui, Q., Song, L., Zou, Y., Wang, X., Liu, X., Hui, R., Fan, Y. <strong>Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.</strong> Am. J. Hum. Genet. 87: 687-693, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20970104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20970104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20970104[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/10.1016/j.ajhg.2010.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20970104">Wang et al. (2010)</a> identified heterozygosity for a 391C-G transversion in exon 5 of the NEXN gene, resulting in a gln131-to-glu (Q131E) substitution at a highly conserved residue in the N-terminal actin-binding domain (ABD). The mutation was also detected in the proband's affected brother and daughter, but was not found in her unaffected daughter or 192 ethnically matched controls. Transfection studies in C2C12 cells showed that mutant nexilin accumulated in the cytoplasm and that the expressed fragment of Q131E-mutant ABD completely lost the ability to bind F-actin (see <a href="/entry/102610">102610</a>). Coimmunoprecipitation assays indicated that the Q131E mutation decreased the binding of full-length NEXN to alpha-actin (<a href="/entry/102610">102610</a>) and abolished the interaction between the fragment of ABD and alpha-actin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20970104" 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>.0005 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs146245480 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs146245480;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs146245480?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs146245480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs146245480" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023985 OR RCV000041184 OR RCV000143936 OR RCV000460527 OR RCV000769818 OR RCV001719699 OR RCV004017264 OR RCV004532402" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023985, RCV000041184, RCV000143936, RCV000460527, RCV000769818, RCV001719699, RCV004017264, RCV004532402" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023985...</a>
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<p>In a 45-year-old Han Chinese man with familial hypertrophic cardiomyopathy (CMH20; <a href="/entry/613876">613876</a>), <a href="#4" class="mim-tip-reference" title="Wang, H., Li, Z., Wang, J., Sun, K., Cui, Q., Song, L., Zou, Y., Wang, X., Liu, X., Hui, R., Fan, Y. <strong>Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.</strong> Am. J. Hum. Genet. 87: 687-693, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20970104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20970104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20970104[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/10.1016/j.ajhg.2010.10.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20970104">Wang et al. (2010)</a> identified heterozygosity for an 835C-T transition in exon 8 of the NEXN gene, resulting in an arg279-to-cys (R279C) substitution at a highly conserved residue in the coiled-coil domain. The R279C mutation was detected in the proband's affected father and brother, and was also present in his 12-year-old clinically asymptomatic daughter, but was not found in 192 ethnically matched controls. Transfection studies in C2C12 cells showed that mutant nexilin accumulated in the cytoplasm, but binding to alpha-actin (<a href="/entry/102610">102610</a>) was not altered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20970104" 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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Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W.
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Nature Med. 15: 1281-1288, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19881492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19881492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19881492" 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/nm.2037" target="_blank">Full Text</a>]
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Hu, Y.-W., Guo, F.-X., Xu, Y.-J., Li, P., Lu, Z.-F., McVey, D. G., Zheng, L., Wang, Q., Ye, J. H., Kang, C.-M., Wu, S.-G., Zhao, J.-J., and 12 others.
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<strong>Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN.</strong>
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J. Clin. Invest. 129: 1115-1128, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30589415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30589415</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30589415" 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/10.1172/JCI98230" target="_blank">Full Text</a>]
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Ohtsuka, T., Nakanishi, H., Ikeda, W., Satoh, A., Momose, Y., Nishioka, H., Takai, Y.
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<strong>Nexilin: a novel actin filament-binding protein localized at cell-matrix adherens junction.</strong>
|
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J. Cell Biol. 143: 1227-1238, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832551</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9832551[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=9832551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1083/jcb.143.5.1227" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Wang2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, H., Li, Z., Wang, J., Sun, K., Cui, Q., Song, L., Zou, Y., Wang, X., Liu, X., Hui, R., Fan, Y.
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<strong>Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.</strong>
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Am. J. Hum. Genet. 87: 687-693, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20970104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20970104</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20970104[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=20970104" 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/j.ajhg.2010.10.002" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Wang2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, W., Zhang, W., Han, Y., Chen, J., Wang, Y., Zhang, Z., Hui, R.
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<strong>NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion.</strong>
|
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Biochem. Biophys. Res. Commun. 330: 1127-1131, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15823560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15823560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15823560" 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/j.bbrc.2005.03.082" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Zhao2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhao, Y., Wei, Y.-J., Cao, H.-Q., Ding, J.-F.
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<strong>Molecular cloning of NELIN, a putative human cytoskeleton regulation gene.</strong>
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Acta Biochim. Biophys. Sinica 33: 19-24, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12053183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12053183</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12053183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</ol>
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<br />
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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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 : 03/27/2019
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</span>
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</div>
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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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Marla J. F. O'Neill - updated : 4/6/2011<br>Marla J. F. O'Neill - updated : 11/17/2009
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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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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</span>
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</div>
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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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Patricia A. Hartz : 11/12/2009
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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 : 03/27/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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carol : 11/23/2016<br>terry : 06/11/2012<br>alopez : 2/3/2012<br>carol : 7/6/2011<br>wwang : 4/8/2011<br>terry : 4/6/2011<br>terry : 10/12/2010<br>wwang : 11/17/2009<br>mgross : 11/12/2009
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</span>
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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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<h3>
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<span class="mim-font">
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<strong>*</strong> 613121
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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NEXILIN F-ACTIN-BINDING PROTEIN; NEXN
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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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<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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NEXILIN, RAT, HOMOLOG OF<br />
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NEXILIN-LIKE PROTEIN; NELIN
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</span>
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</h4>
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: NEXN</em></strong>
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</span>
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</p>
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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: 1p31.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:77,888,624-77,943,895 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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1p31.1
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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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Cardiomyopathy, dilated, 1CC
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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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613122
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Cardiomyopathy, hypertrophic, 20
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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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613876
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>NEXN is a filamentous actin (F-actin; see 102560)-binding protein that localizes to focal contacts and may be involved in cell adhesion and migration (Ohtsuka et al., 1998; Wang et al., 2005). </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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</div>
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<span class="mim-text-font">
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<p>Ohtsuka et al. (1998) cloned 2 splice variants of rat nexilin, which they called b-nexilin and s-nexilin, from brain and cultured fibroblasts, respectively. The name nexilin came from the Latin word nexilis, meaning 'bound together.' Full-length b-nexilin contains an N-terminal F-actin-binding domain (ABD), followed by a spacer, a coiled-coil region, a second ABD, and a long C-terminal tail. In comparison, s-nexilin lacks the N-terminal ABD and has an insertion in the C-terminal tail. Immunofluorescence microscopy revealed that both b-nexilin and s-nexilin colocalized with F-actin at focal contacts at the ends of stress fibers. The nexilins did not localize to cell-cell junctions. Western blot analysis detected nexilin proteins with apparent molecular masses above 90 kD in rat brain, testis, and spleen and in cultured rodent fibroblasts. Neither protein was detected in liver, kidney, or epithelial cell lines. Wang et al. (2010) stated that the full-length nexilin protein contains 675 amino acids. </p><p>By sequencing clones obtained from a heart cDNA library and by EST database analysis, Zhao et al. (2001) cloned human nexilin, which they called NELIN. The deduced 493-amino acid protein contains an N-terminal FERIN-like domain, followed by an ABD and a C-terminal immunoglobulin domain. It also has 2 nuclear localization signals. Northern blot analysis detected a major 4.0-kb transcript in adult and fetal heart and skeletal muscle only. A minor 2.7-kb transcript, representing the NELIN cDNA cloned by Zhao et al. (2001), was detected in adult and fetal heart only. </p><p>Using RT-PCR, Wang et al. (2005) cloned NELIN from umbilical vein wall mRNA. The deduced protein contains 447 amino acids. Northern blot analysis detected a major transcript of about 3.0 kb in heart and skeletal muscle. Fluorescence-tagged NELIN localized predominantly to the cytoplasm of transfected HeLa cells, with some perinuclear concentration. NELIN colocalized with F-actin. </p><p>Using whole-mount antisense RNA in situ hybridization, Hassel et al. (2009) found that NEXN expression first became detectable in the developing somite and zebrafish heart tube and remained restricted to the heart and skeletal muscle throughout embryogenesis. </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>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</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>Wang et al. (2010) noted that the NEXN gene contains 13 exons. </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">
|
|
<strong>Mapping</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Zhao et al. (2001) mapped the NEXN gene to chromosome 1p32-p31. </p><p>Hassel et al. (2009) noted that the NEXN gene maps to chromosome 1p31.1. </p>
|
|
</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>Using F-actin and deletion constructs of recombinant rat nexilins in cosedimentation assays, Ohtsuka et al. (1998) showed that b-nexilin has 2 ABDs and that s-nexilin has a single ABD. The coiled-coil region and the second ABD were required for localization of b-nexilin and s-nexilin at focal contacts. Pretreatment of F-actin with myosin (see 160730) subfragment-1, which binds along the sides of F-actin, inhibited F-actin binding by b-nexilin. This inhibition was reversed by MgATP, which dissociates the actin-myosin complex. B-nexilin, but not s-nexilin, increased the viscosity of the nexilin-F-actin complex, and electron microscopy showed that the increased viscosity was due to F-actin crosslink formation by b-nexilin. The stoichiometry of nexilin-F-actin binding appeared to be 1 b-nexilin molecule per about 9 actin molecules and 1 s-nexilin molecule per about 10 actin molecules. Ohtsuka et al. (1998) concluded that the nexilins bind along the sides of F-actin, and that the second ABD of b-nexilin is engaged in F-actin crosslinking. </p><p>Wang et al. (2005) found that epitope-tagged NELIN coimmunoprecipitated with F-actin from rat PC12 cells. HeLa cells overexpressing NELIN showed increased cell migration and elevated adhesion compared with control cells. </p><p>Hassel et al. (2009) inactivated zebrafish nexilin by morpholino injection and observed development of severe heart failure. The authors found that nexilin was dispensable for early heart development, differentiation of cardiomyocytes, and expression of contractile elements, but analysis of the ultrastructure of cardiac muscle cells revealed that although the primary organization of thick and thin filaments was normal in nexilin-deficient zebrafish hearts, sarcomeric units were disrupted and frequently detached from the irregular and blurry Z discs, leaving sarcomeres in tatters. Sarcomere damage became more extensive as the embryos aged from 48 to 72 hours after fertilization, suggesting that nexilin has an essential role in the maintenance of Z disc and sarcomere integrity rather than in the primary assembly of these structures. Increasing mechanical strain aggravated Z disc damage in nexilin-deficient skeletal muscle, implying a unique role of nexilin in protecting Z discs from mechanical trauma. Immunoprecipitation-western blotting assays indicated that nexilin forms a complex with alpha-actin (see 102540), beta-actin (102630), and alpha-actinin (see 102575) at the cardiac Z disc. </p><p>Hu et al. (2019) found that expression of NEXN and its antisense long noncoding RNA (lncRNA), NEXNAS1 (618370), was lower in human atherosclerotic plaques compared with healthy aortic tissue. NEXNAS1 overexpression in vascular endothelial cells increased NEXN expression, whereas knockdown of NEXNAS1 decreased NEXN expression. In vitro experiments revealed that NEXNAS1 interacted with the 5-prime flanking region of the NEXN gene. The 5-prime region of NEXNAS1 also interacted with the chromatin remodeler BAZ1A (605680). Knockdown of BAZ1A in vascular endothelial cells resulted in an open chromatin state in the 5-prime flanking region of NEXN, leading to increased NEXN expression, and this effect was enhanced by increased NEXNAS1 expression. Increased NEXNAS1 and NEXN expression suppressed the TLR4 (603030)/NF-kappa-B (see 164011) pathway, downregulated expression of inflammatory genes in endothelial cells, and reduced adhesion of monocytes to endothelial cells. </p>
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</span>
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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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<span class="mim-text-font">
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<p><strong><em>Dilated Cardiomyopathy 1CC</em></strong></p><p>
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Because of evidence that loss of nexilin leads to severe cardiomyopathy in zebrafish, Hassel et al. (2009) analyzed the NEXN gene in 90 patients diagnosed with idiopathic dilated cardiomyopathy (CMD) and identified heterozygosity for a 3-bp deletion (G650del; 613121.0001) in 2 patients with CMD1CC (613122). Screening of the entire NEXN coding sequence in an additional 910 CMD patients revealed the G650del mutation in 4 more patients. In addition, 2 heterozygous missense mutations were detected, Y652C in 2 patients (613121.0002) and P611T in 1 patient (613121.0003). None of the mutations were found in 1,251 age-, gender-, ethnicity- and geography-matched controls. All mutation-positive patients were screened for mutations in other known CMD-associated genes, but no mutations were identified. </p><p><strong><em>Hypertrophic Cardiomyopathy 20</em></strong></p><p>
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Wang et al. (2010) analyzed the NEXN gene in 121 unrelated Han Chinese patients with CMH who were negative for mutations in 8 common myofilament-associated genes responsible for CMH, and they identified 2 heterozygous missense mutations in 2 probands (613121.0004 and 613121.0005, respectively) that were located at highly conserved residues, segregated with disease in each family, and were not found in 192 ethnically matched controls. </p>
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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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<span class="mim-text-font">
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<p>Hu et al. (2019) found that Nexn +/- mice on an Apoe (107741) -/- background fed a Western high-fat diet had more atherosclerosis, higher levels of Tlr4, and increased expression of adhesion molecules, inflammatory cytokines, and matrix metalloproteinases compared with Nexn +/+ Apoe -/- mice. Conversely, Apoe -/- mice with Nexn overexpression had smaller atherosclerotic plaques compared with controls. </p>
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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>5 Selected Examples):</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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<h4>
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<span class="mim-font">
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<strong>.0001 CARDIOMYOPATHY, DILATED, 1CC</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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NEXN, 3-BP DEL, 1948GGA
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<br />
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SNP: rs397517853,
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ClinVar: RCV000041169, RCV000251358, RCV000470679, RCV000766521, RCV000768810, RCV000986336, RCV004734587
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 6 patients with dilated cardiomyopathy (CMD1CC; 613122), Hassel et al. (2009) identified heterozygosity for a 3-bp deletion in the NEXN gene, resulting loss of a conserved gly650 residue (G650del). The deletion was not found in 1,251 age-, gender-, ethnicity- and geography-matched controls. One proband had a mildly affected brother who carried the deletion and an asymptomatic 33-year-old daughter, who declined further evaluation. Two probands had fathers who did not carry the deletion, and both obligate-carrier mothers had died of cardiac failure; 1 of the 2 probands also had 2 brothers who had died of cardiac failure. All G650del carriers shared an identical haplotype over a large genomic region surrounding the NEXN gene, suggesting a founder effect. Ultrastructural analysis of myocardial biopsy tissue from a G650del patient showed disruption of sarcomeric units with detached and blurry Z discs, similar to that seen in NEXN-deficient zebrafish. Ectopic expression of G650-deleted nexilin in zebrafish resulted in dilated cardiomyopathy, with markedly reduced systolic function and Z disc disruption. Injection of an equal amount of wildtype nexilin had no effect on cardiac function or ultrastructure, indicating a dominant-negative effect of the mutant nexilin. </p>
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</span>
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<div>
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</div>
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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>.0002 CARDIOMYOPATHY, DILATED, 1CC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NEXN, TYR652CYS
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<br />
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SNP: rs137853197,
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gnomAD: rs137853197,
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ClinVar: RCV000000354, RCV000183674, RCV000208290, RCV000234084, RCV000246924, RCV000491470, RCV001170736, RCV003147270
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 patients with dilated cardiomyopathy (CMD1CC; 613121), Hassel et al. (2009) identified heterozygosity for a 1955A-G transition in the NEXN gene, resulting in a tyr652-to-cys (Y652C) substitution at a highly conserved residue. Both probands had a parent who had died of dilated cardiomyopathy; 1 proband underwent heart transplantation at age 60 years due to progressive dilated cardiomyopathy. The 2 Y652C mutation carriers shared a common haplotype that was distinct from the G650del (613121.0001)-associated haplotype, suggesting a distinct founder effect; the mutation was not found in 1,251 age-, gender-, ethnicity- and geography-matched controls. Ultrastructural analysis of myocardial biopsy tissue from a Y652C patient showed disruption of sarcomeric units with detached and blurry Z discs, similar to that seen in NEXN-deficient zebrafish. Ectopic expression of Y652C-mutated nexilin in zebrafish resulted in dilated cardiomyopathy, with markedly reduced systolic function and Z disc disruption. Injection of an equal amount of wildtype nexilin had no effect on cardiac function or ultrastructure, indicating a dominant-negative effect of the mutant nexilin. </p>
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>.0003 CARDIOMYOPATHY, DILATED, 1CC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NEXN, PRO611THR
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<br />
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SNP: rs137853198,
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ClinVar: RCV000000355, RCV004018524
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with dilated cardiomyopathy (CMD1CC; 613121), Hassel et al. (2009) identified heterozygosity for a 1831C-A transversion in the NEXN gene, resulting in a pro611-to-thr (P611T) substitution at a highly conserved residue that was not found in 1,251 age-, gender-, ethnicity- and geography-matched controls. Ectopic expression of P611T-mutated nexilin in zebrafish resulted in dilated cardiomyopathy, with markedly reduced systolic function and Z disc disruption; injection of an equal amount of wildtype nexilin had no effect on cardiac function or ultrastructure, indicating a dominant-negative effect of the mutant nexilin. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NEXN, GLN131GLU
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<br />
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SNP: rs387907079,
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gnomAD: rs387907079,
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ClinVar: RCV000023984
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 37-year-old Han Chinese woman with familial hypertrophic cardiomyopathy (CMH20; 613876), Wang et al. (2010) identified heterozygosity for a 391C-G transversion in exon 5 of the NEXN gene, resulting in a gln131-to-glu (Q131E) substitution at a highly conserved residue in the N-terminal actin-binding domain (ABD). The mutation was also detected in the proband's affected brother and daughter, but was not found in her unaffected daughter or 192 ethnically matched controls. Transfection studies in C2C12 cells showed that mutant nexilin accumulated in the cytoplasm and that the expressed fragment of Q131E-mutant ABD completely lost the ability to bind F-actin (see 102610). Coimmunoprecipitation assays indicated that the Q131E mutation decreased the binding of full-length NEXN to alpha-actin (102610) and abolished the interaction between the fragment of ABD and alpha-actin. </p>
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</span>
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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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<div>
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<h4>
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<span class="mim-font">
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|
<strong>.0005 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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NEXN, ARG279CYS
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<br />
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SNP: rs146245480,
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gnomAD: rs146245480,
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ClinVar: RCV000023985, RCV000041184, RCV000143936, RCV000460527, RCV000769818, RCV001719699, RCV004017264, RCV004532402
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 45-year-old Han Chinese man with familial hypertrophic cardiomyopathy (CMH20; 613876), Wang et al. (2010) identified heterozygosity for an 835C-T transition in exon 8 of the NEXN gene, resulting in an arg279-to-cys (R279C) substitution at a highly conserved residue in the coiled-coil domain. The R279C mutation was detected in the proband's affected father and brother, and was also present in his 12-year-old clinically asymptomatic daughter, but was not found in 192 ethnically matched controls. Transfection studies in C2C12 cells showed that mutant nexilin accumulated in the cytoplasm, but binding to alpha-actin (102610) was not altered. </p>
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</span>
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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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<div>
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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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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W.
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<strong>Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.</strong>
|
|
Nature Med. 15: 1281-1288, 2009.
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[PubMed: 19881492]
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[Full Text: https://doi.org/10.1038/nm.2037]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hu, Y.-W., Guo, F.-X., Xu, Y.-J., Li, P., Lu, Z.-F., McVey, D. G., Zheng, L., Wang, Q., Ye, J. H., Kang, C.-M., Wu, S.-G., Zhao, J.-J., and 12 others.
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<strong>Long noncoding RNA NEXN-AS1 mitigates atherosclerosis by regulating the actin-binding protein NEXN.</strong>
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J. Clin. Invest. 129: 1115-1128, 2019.
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[PubMed: 30589415]
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[Full Text: https://doi.org/10.1172/JCI98230]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ohtsuka, T., Nakanishi, H., Ikeda, W., Satoh, A., Momose, Y., Nishioka, H., Takai, Y.
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<strong>Nexilin: a novel actin filament-binding protein localized at cell-matrix adherens junction.</strong>
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J. Cell Biol. 143: 1227-1238, 1998.
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[PubMed: 9832551]
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[Full Text: https://doi.org/10.1083/jcb.143.5.1227]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wang, H., Li, Z., Wang, J., Sun, K., Cui, Q., Song, L., Zou, Y., Wang, X., Liu, X., Hui, R., Fan, Y.
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<strong>Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.</strong>
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Am. J. Hum. Genet. 87: 687-693, 2010.
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[PubMed: 20970104]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.10.002]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wang, W., Zhang, W., Han, Y., Chen, J., Wang, Y., Zhang, Z., Hui, R.
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<strong>NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion.</strong>
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Biochem. Biophys. Res. Commun. 330: 1127-1131, 2005.
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[PubMed: 15823560]
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[Full Text: https://doi.org/10.1016/j.bbrc.2005.03.082]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Zhao, Y., Wei, Y.-J., Cao, H.-Q., Ding, J.-F.
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<strong>Molecular cloning of NELIN, a putative human cytoskeleton regulation gene.</strong>
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Acta Biochim. Biophys. Sinica 33: 19-24, 2001.
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[PubMed: 12053183]
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</p>
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</li>
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</ol>
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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 class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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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 : 03/27/2019<br>Marla J. F. O'Neill - updated : 4/6/2011<br>Marla J. F. O'Neill - updated : 11/17/2009
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</span>
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Patricia A. Hartz : 11/12/2009
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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</span>
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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 : 03/27/2019<br>carol : 11/23/2016<br>terry : 06/11/2012<br>alopez : 2/3/2012<br>carol : 7/6/2011<br>wwang : 4/8/2011<br>terry : 4/6/2011<br>terry : 10/12/2010<br>wwang : 11/17/2009<br>mgross : 11/12/2009
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