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<title>
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Entry
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- *604001 - A-KINASE ANCHOR PROTEIN 9; AKAP9
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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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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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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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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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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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>
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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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<li role="separator" class="divider"></li>
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<a href="/history"> Search History </a>
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</form>
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<p />
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*604001</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="#cloning">Cloning and Expression</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="#geneStructure">Gene Structure</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</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">
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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/604001">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=ENSG00000127914;t=ENST00000356239" 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=10142" 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=604001" 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=ENSG00000127914;t=ENST00000356239" 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_001379277,NM_005751,NM_147185" 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_005751" 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=604001" 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=04921&isoform_id=04921_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/AKAP9" 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/2623068,3645944,3882327,4128008,4558862,4584423,5051743,5106478,22538387,22538393,26454789,30142004,34190435,41471984,48476349,51094910,51094911,51094912,51094913,52545549,119597266,119597267,119597268,119597269,119597270,119597271,119597272,119597273,119597274,193786698,568245056,1384010317,1825597415" 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/Q99996" 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=10142" 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=ENSG00000127914;t=ENST00000356239" 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=AKAP9" 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=AKAP9" 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+10142" 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/AKAP9" 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:10142" 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/10142" 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=chr7&hgg_gene=ENST00000356239.8&hgg_start=91940862&hgg_end=92110673&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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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:379" 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=604001[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=604001[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/AKAP9/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/ENSG00000127914" 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=AKAP9" 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=AKAP9" 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=AKAP9" 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="http://databases.lovd.nl/genomed/home.php?select_db=AKAP9" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=AKAP9&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/PA24673" 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:379" 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:2178217" 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/AKAP9#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:2178217" 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/10142/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=10142" 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-030131-7276" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
|
<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=AKAP9&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>
|
|
604001
|
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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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A-KINASE ANCHOR PROTEIN 9; AKAP9
|
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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">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
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</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
YOTIAO<br />
|
|
A-KINASE ANCHOR PROTEIN, 450-KD; AKAP450<br />
|
|
CENTROSOME- AND GOLGI-LOCALIZED PROTEIN KINASE N-ASSOCIATED PROTEIN; CGNAP
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
|
<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
AKAP9/BRAF FUSION GENE, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
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|
|
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|
|
<div>
|
|
<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=AKAP9" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">AKAP9</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</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/7/404?start=-3&limit=10&highlight=404">7q21.2</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:91940862-92110673&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'})">7:91,940,862-92,110,673</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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|
|
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<div>
|
|
<br />
|
|
</div>
|
|
<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">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
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</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/604001" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/604001" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Proper synaptic function requires accurate localization of appropriate ion channels and neurotransmitter receptors to the postsynaptic site. This localization may occur by means of specific interactions between synaptic membrane proteins and a variety of anchoring or clustering molecules. Using a yeast 2-hybrid screen to identify proteins that interact with the intracellular C-terminal tail of the NMDA receptor NR1 subunit (GRIN1; <a href="/entry/138249">138249</a>), <a href="#6" class="mim-tip-reference" title="Lin, J. W., Wyszynski, M., Madhavan, R., Sealock, R., Kim, J. U., Sheng, M. <strong>Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1.</strong> J. Neurosci. 18: 2017-2027, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9482789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9482789</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.18-06-02017.1998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9482789">Lin et al. (1998)</a> isolated human brain cDNAs encoding a novel protein. The presumed full-length coding sequence encodes a predicted 1,642-amino acid protein containing many long coiled-coil regions throughout its length. Due to its coiled-coil structure, the authors named the protein 'yotiao,' after a popular Chinese breakfast food consisting of long strands of fried dough. The interaction of yotiao with NR1 is dependent upon the presence of the 37-amino acid region in the C-terminal tail of NR1 that is encoded by the alternatively spliced C1 exon cassette of NR1. Northern blot analysis of human tissues detected an 11-kb yotiao transcript that was expressed abundantly in skeletal muscle and pancreas, to a lesser degree in heart and placenta, and modestly in brain. Immunohistochemical experiments indicated that yotiao is expressed in a somatodendritic pattern in neurons throughout the rat brain, with prominent expression in the cerebral cortex, hippocampus, and cerebellum. The authors demonstrated that yotiao and NR1 are colocalized in rat brain. Yotiao is predominantly located at the neuromuscular junction in rat skeletal muscle. Biochemical studies showed that yotiao fractionates with cytoskeleton-associated proteins and with the postsynaptic density. <a href="#6" class="mim-tip-reference" title="Lin, J. W., Wyszynski, M., Madhavan, R., Sealock, R., Kim, J. U., Sheng, M. <strong>Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1.</strong> J. Neurosci. 18: 2017-2027, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9482789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9482789</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.18-06-02017.1998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9482789">Lin et al. (1998)</a> concluded that yotiao is an NR1-binding protein that is potentially involved in the cytoskeletal attachment of NMDA receptors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9482789" 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 overlay screening with RII (see <a href="/entry/176910">176910</a>), database searches, and PCR of a Jurkat T-lymphocyte expression library, <a href="#10" class="mim-tip-reference" title="Witczak, O., Skalhegg, B. S., Keryer, G., Bornens, M., Tasken, K., Jahnsen, T., Orstavik, S. <strong>Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450.</strong> EMBO J. 18: 1858-1868, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10202149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10202149</a>] [<a href="https://doi.org/10.1093/emboj/18.7.1858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10202149">Witczak et al. (1999)</a> cloned AKAP9, which they designated AKAP450. The deduced 3,908-amino acid protein has a calculated molecular mass of about 453 kD. The N-terminal 1,626 amino acids are identical to yotiao except for a 12-amino acid stretch not found in yotiao. The 2 proteins are alternatively spliced products of the AKAP9 gene. Northern blot analysis revealed a 12-kb transcript expressed in most tissues tested, with highest levels in kidney, intermediate levels in brain, heart, placenta, and lung, and low levels in skeletal muscle, liver, small intestine, and peripheral blood leukocytes. Prominent smearing suggested a high level of mRNA degradation. Hybridization with a more 3-prime probe revealed a transcript of about 8 kb that was prominently expressed in liver and kidney. Immunofluorescence localization showed staining of a single perinuclear dot in interphase HeLa cells and staining of 2 polarized dots in metaphase cells. Dual labeling of HeLa cells and Western blot analysis of purified centrosomes from a human lymphoblast cell line confirmed that AKAP9 localized to centrosomes. Western blot analysis revealed 4 distinct proteins in centrosome preparations, with the highest molecular mass protein migrating at about 450 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10202149" 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 the N-terminal region of protein kinase N (PKN; <a href="/entry/601032">601032</a>) as bait in a yeast 2-hybrid screen of a brain cDNA library, <a href="#8" class="mim-tip-reference" title="Takahashi, M., Shibata, H., Shimakawa, M., Miyamoto, M., Mukai, H., Ono, Y. <strong>Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the Golgi apparatus.</strong> J. Biol. Chem. 274: 17267-17274, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10358086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10358086</a>] [<a href="https://doi.org/10.1074/jbc.274.24.17267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10358086">Takahashi et al. (1999)</a> cloned a fragment of AKAP9, which they designated CGNAP. They obtained the full-length cDNA by screening neuroblastoma and HeLa cell cDNA libraries and by RACE of a hippocampus cDNA library. The deduced 3,899-amino acid protein has a calculated molecular mass of about 452 kD. <a href="#8" class="mim-tip-reference" title="Takahashi, M., Shibata, H., Shimakawa, M., Miyamoto, M., Mukai, H., Ono, Y. <strong>Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the Golgi apparatus.</strong> J. Biol. Chem. 274: 17267-17274, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10358086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10358086</a>] [<a href="https://doi.org/10.1074/jbc.274.24.17267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10358086">Takahashi et al. (1999)</a> identified N- and C-terminal leucine zipper-like motifs and 2 central RII-binding motifs, as well as coiled-coil regions. Northern blot analysis revealed a 12-kb transcript ubiquitously expressed at low abundance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10358086" 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 yeast 2-hybrid screening using Trax (<a href="/entry/602964">602964</a>) as bait, <a href="#1" class="mim-tip-reference" title="Bray, J. D., Chennathukuzhi, V. M., Hecht, N. B. <strong>Identification and characterization of cDNAs encoding four novel proteins that interact with translin associated factor-X.</strong> Genomics 79: 799-808, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12036294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12036294</a>] [<a href="https://doi.org/10.1006/geno.2002.6779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12036294">Bray et al. (2002)</a> cloned Akap9 from a mouse testis cDNA library. Northern blot analysis of mouse tissues detected highest expression of a 14.5-kb transcript in spleen, skeletal muscle, and kidney. Upon overexposure, low levels were also detected in brain, heart, liver, lung, and testis. All tissues showed smearing of the Akap9 transcript. RT-PCR detected Akap9 in brain and testis and in all germ cell stages examined. Confocal microscopy of transfected NIH 3T3 mouse fibroblasts detected predominantly cytosolic localization of Akap9 and concentrated staining around the nucleus. Akap9 colocalized with Trax in a punctate perinuclear pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12036294" 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="#10" class="mim-tip-reference" title="Witczak, O., Skalhegg, B. S., Keryer, G., Bornens, M., Tasken, K., Jahnsen, T., Orstavik, S. <strong>Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450.</strong> EMBO J. 18: 1858-1868, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10202149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10202149</a>] [<a href="https://doi.org/10.1093/emboj/18.7.1858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10202149">Witczak et al. (1999)</a> mapped the AKAP9 gene to chromosome 7q21-q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10202149" 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>Regulation of NMDA receptor activity by kinases and phosphatases contributes to the modulation of synaptic transmission. Targeting of these enzymes near the substrate has been proposed to enhance phosphorylation-dependent modulation. <a href="#9" class="mim-tip-reference" title="Westphal, R. S., Tavalin, S. J., Lin, J. W., Alto, N. M., Fraser, I. D. C., Langeberg, L. K., Sheng, M., Scott, J. D. <strong>Regulation of NMDA receptors by an associated phosphatase-kinase signaling complex.</strong> Science 285: 93-96, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10390370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10390370</a>] [<a href="https://doi.org/10.1126/science.285.5424.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10390370">Westphal et al. (1999)</a> demonstrated that yotiao binds to both the type II regulatory subunit (e.g., <a href="/entry/176910">176910</a>) of cAMP-dependent protein kinase (PKA), indicating that it is an A-kinase anchor protein (AKAP), and to type I protein phosphatase (PP1; e.g., <a href="/entry/176875">176875</a>). The authors concluded that yotiao is a scaffold protein that physically attaches PP1 and PKA to NMDA receptors to regulate channel activity. By searching nucleotide databases and isolating cDNAs, <a href="#9" class="mim-tip-reference" title="Westphal, R. S., Tavalin, S. J., Lin, J. W., Alto, N. M., Fraser, I. D. C., Langeberg, L. K., Sheng, M., Scott, J. D. <strong>Regulation of NMDA receptors by an associated phosphatase-kinase signaling complex.</strong> Science 285: 93-96, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10390370/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10390370</a>] [<a href="https://doi.org/10.1126/science.285.5424.93" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10390370">Westphal et al. (1999)</a> found that the yotiao gene is expressed as multiple alternatively spliced transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10390370" 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="#10" class="mim-tip-reference" title="Witczak, O., Skalhegg, B. S., Keryer, G., Bornens, M., Tasken, K., Jahnsen, T., Orstavik, S. <strong>Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450.</strong> EMBO J. 18: 1858-1868, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10202149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10202149</a>] [<a href="https://doi.org/10.1093/emboj/18.7.1858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10202149">Witczak et al. (1999)</a> determined that amino acids 2327 to 2602 of AKAP9 bind RII, and that a leu2556-to-pro mutation interfered with the interaction. Immunoprecipitation studies verified interaction between endogenous AKAP9 and RII in HeLa cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10202149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Takahashi, M., Shibata, H., Shimakawa, M., Miyamoto, M., Mukai, H., Ono, Y. <strong>Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the Golgi apparatus.</strong> J. Biol. Chem. 274: 17267-17274, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10358086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10358086</a>] [<a href="https://doi.org/10.1074/jbc.274.24.17267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10358086">Takahashi et al. (1999)</a> found that AKAP9 coimmunoprecipitated with the catalytic subunit of protein phosphatase-2A (see <a href="/entry/176915">176915</a>) when the regulatory B subunit (see <a href="/entry/604941">604941</a>) was exogenously expressed in COS-7 cells. AKAP9 also interacted with the catalytic subunit of protein phosphatase-1 in HeLa cells. <a href="#8" class="mim-tip-reference" title="Takahashi, M., Shibata, H., Shimakawa, M., Miyamoto, M., Mukai, H., Ono, Y. <strong>Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the Golgi apparatus.</strong> J. Biol. Chem. 274: 17267-17274, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10358086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10358086</a>] [<a href="https://doi.org/10.1074/jbc.274.24.17267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10358086">Takahashi et al. (1999)</a> showed that AKAP9 localized to centrosomes throughout the cell cycle, to the midbody at telophase, and to the Golgi apparatus at interphase, where a population of PKN and RII-alpha accumulated. They concluded that AKAP9 is a scaffolding protein that assembles several protein kinases and phosphatases on centrosomes and the Golgi apparatus, where physiologic events may be regulated by the phosphorylation state of specific protein substrates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10358086" 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 yeast 2-hybrid analysis and in vitro binding assays, <a href="#1" class="mim-tip-reference" title="Bray, J. D., Chennathukuzhi, V. M., Hecht, N. B. <strong>Identification and characterization of cDNAs encoding four novel proteins that interact with translin associated factor-X.</strong> Genomics 79: 799-808, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12036294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12036294</a>] [<a href="https://doi.org/10.1006/geno.2002.6779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12036294">Bray et al. (2002)</a> determined that Akap9 interacts directly with Trax. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12036294" 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>I(Ks) is a slow heart potassium current carried by the I(Ks) potassium channel, critically important in the regulation of the cardiac action potential, particularly in the face of sympathetic nervous system stimulation. The I(Ks) potassium channel is a substrate for PKA phosphorylation in response to sympathetic nerve stimulation. The I(Ks) PKA macromolecular complex consists of an alpha subunit (KCNQ1; <a href="/entry/607542">607542</a>), a regulatory subunit (KCNE1; <a href="/entry/176261">176261</a>), and the AKAP yotiao, which binds to a leucine zipper motif in the KCNQ1 C terminus and in turn binds PKA and protein phosphatase-1. Disruption of this regulation by mutation in long QT syndrome (see <a href="/entry/192500">192500</a>) is associated with elevated risk of sudden death. <a href="#5" class="mim-tip-reference" title="Kurokawa, J., Motoike, H. K., Rao, J., Kass, R. S. <strong>Regulatory actions of the A-kinase anchoring protein yotiao on a heart potassium channel downstream of PKA phosphorylation.</strong> Proc. Nat. Acad. Sci. 101: 16374-16378, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 17884 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15528278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15528278</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15528278[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0405583101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15528278">Kurokawa et al. (2004)</a> studied the effects of the AKAP yotiao on the function of the I(Ks) channel that had been mutated to simulate channel phosphorylation, and they found direct AKAP-mediated alteration of channel function distinct from its role in the coordination of channel phosphorylation by PKA. These data revealed previously undescribed actions of yotiao that occur subsequent to channel phosphorylation and provided evidence that this adaptor protein also may serve as an effector in regulating this important ion channel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15528278" 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 RNA interference with human cell lines, <a href="#7" class="mim-tip-reference" title="Oshimori, N., Li, X., Ohsugi, M., Yamamoto, T. <strong>Cep72 regulates the localization of key centrosomal proteins and proper bipolar spindle formation.</strong> EMBO J. 28: 2066-2076, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19536135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19536135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19536135[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/10.1038/emboj.2009.161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19536135">Oshimori et al. (2009)</a> found that knockdown of CGNAP led to failure of centrosomes to nucleate microtubules into astral arrays at the initiation of mitosis, abrogating spindle formation and proper alignment of chromosomes at the metaphase plate. Knockdown studies also revealed that CEP72 (<a href="/entry/616475">616475</a>) was required for localization of CGNAP to centrosomes and the Golgi apparatus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19536135" 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="#10" class="mim-tip-reference" title="Witczak, O., Skalhegg, B. S., Keryer, G., Bornens, M., Tasken, K., Jahnsen, T., Orstavik, S. <strong>Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450.</strong> EMBO J. 18: 1858-1868, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10202149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10202149</a>] [<a href="https://doi.org/10.1093/emboj/18.7.1858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10202149">Witczak et al. (1999)</a> determined that the AKAP9 gene contains 51 exons and spans more than 170 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10202149" 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="Ciampi, R., Knauf, J. A., Kerler, R., Gandhi, M., Zhu, Z., Nikiforova, M. N., Rabes, H. M., Fagin, J. A., Nikiforov, Y. E. <strong>Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer.</strong> J. Clin. Invest. 115: 94-101, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15630448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15630448</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15630448[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/10.1172/JCI23237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15630448">Ciampi et al. (2005)</a> reported a BRAF (<a href="/entry/164757">164757</a>)-AKAP9 fusion gene created by paracentric inversion of chromosome 7q, resulting in an in-frame fusion between exons 1-8 of the AKAP9 gene and exons 9-18 of BRAF. The fusion protein contained the protein kinase domain and lacked the autoinhibitory N-terminal portion of BRAF. It had elevated kinase activity and transformed NIH 3T3 cells. The AKAP9-BRAF fusion was preferentially found in radiation-induced papillary carcinomas (see <a href="/entry/188550">188550</a>) developing after a short latency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15630448" 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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Using GST pull-down and immunoprecipitation studies, <a href="#2" class="mim-tip-reference" title="Chen, L., Marquardt, M. L., Tester, D. J., Sampson, K. J., Ackerman, M. J., Kass, R. S. <strong>Mutation of an A-kinase-anchoring protein causes long-QT syndrome.</strong> Proc. Nat. Acad. Sci. 104: 20990-20995, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18093912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18093912</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18093912[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0710527105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18093912">Chen et al. (2007)</a> identified 2 KCNQ1-binding domains in the AKAP9 gene, 1 on the N terminus and 1 on the C terminus. They analyzed the 8 exons encoding those 2 domains in 50 patients with LQTS who did not have mutations in any of the known LQTS genes and identified a missense mutation (S1570L; <a href="#0001">604001.0001</a>) in 1 patient (LQT11; <a href="/entry/611820">611820</a>). The mutation, located in the C-terminal binding site, was not found in 1,320 reference alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18093912" 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>Modifier of Long QT Syndrome 1</em></strong></p><p>
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In 349 members of a South African founder population of Afrikaner origin with long QT syndrome (LQT1; <a href="/entry/192500">192500</a>), 168 of whom carried an identical-by-descent A341V mutation in the KCNQ1 gene (<a href="/entry/607542#0010">607542.0010</a>), <a href="#4" class="mim-tip-reference" title="de Villiers, C. P., van der Merwe, L., Crotti, L., Goosen, A., George, A. L., Schwartz, P. J., Brink, P. A., Moolman-Smook, J. C., Corfield, V. A. <strong>AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.</strong> Circ. Cardiovasc. Genet. 7: 599-606, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25087618</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25087618[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/10.1161/CIRCGENETICS.113.000580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25087618">de Villiers et al. (2014)</a> genotyped 4 SNPs in the AKAP9 gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11772585;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11772585</a>, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7808587;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7808587</a>, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2282972;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2282972</a>, and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2961024;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2961024</a>) and analyzed the association between phenotypic traits and alleles, genotypes, and haplotypes. The <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2961024;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2961024</a> GG genotype, always represented by a homozygous CGCG haplotype (genotypes at all 4 SNPs), was significantly associated with an age-dependent QTc interval increase of 1% per additional 10 years, regardless of A341V mutation status. The <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs11772585;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs11772585</a> T allele, found uniquely in the TACT haplotype, more than doubled the risk of cardiac events in the presence of A314V, and also increased disease severity. The <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7808587;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7808587</a> GG genotype was associated with a 74% increase in cardiac event risk, whereas the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2282972;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2282972</a> T allele, predominantly represented by the CATT haplotype, decreased risk by 53%. <a href="#4" class="mim-tip-reference" title="de Villiers, C. P., van der Merwe, L., Crotti, L., Goosen, A., George, A. L., Schwartz, P. J., Brink, P. A., Moolman-Smook, J. C., Corfield, V. A. <strong>AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.</strong> Circ. Cardiovasc. Genet. 7: 599-606, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25087618</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25087618[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/10.1161/CIRCGENETICS.113.000580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25087618">De Villiers et al. (2014)</a> stated that these results clearly demonstrated that AKAP9 contributes to LQTS phenotypic variability; however, the authors noted that because these SNPs are located in intronic regions of the gene, functional or regulatory variants in linkage disequilibrium with the SNPs were likely to be responsible for the modifying effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25087618" 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> rs121908566 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908566;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/rs121908566?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=rs121908566" 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=rs121908566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 13-year-old Caucasian girl with long QT syndrome-11 (LQT11; <a href="/entry/611820">611820</a>), <a href="#2" class="mim-tip-reference" title="Chen, L., Marquardt, M. L., Tester, D. J., Sampson, K. J., Ackerman, M. J., Kass, R. S. <strong>Mutation of an A-kinase-anchoring protein causes long-QT syndrome.</strong> Proc. Nat. Acad. Sci. 104: 20990-20995, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18093912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18093912</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18093912[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0710527105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18093912">Chen et al. (2007)</a> identified heterozygosity for a ser1570-to-leu (S1570L) substitution in the AKAP9 gene, located in the C-terminal KCNQ1-binding region. The patient's father and 2 sisters had also been diagnosed with LQT syndrome; 1 sister who agreed to testing also carried the mutation, which was not found in 1,320 reference alleles. Functional studies indicated that the S1570L mutation reduced interaction between KCNQ1 and yotiao, reduced cAMP-induced phosphorylation of KCNQ1, and eliminated functional response of the I(Ks) channel to cAMP; a computational model of the ventricular cardiocyte showed prolongation of the action potential. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18093912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1006/geno.2002.6779" target="_blank">Full Text</a>]
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Chen, L., Marquardt, M. L., Tester, D. J., Sampson, K. J., Ackerman, M. J., Kass, R. S.
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<strong>Mutation of an A-kinase-anchoring protein causes long-QT syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18093912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18093912</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18093912[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=18093912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0710527105" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15630448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15630448</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15630448[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=15630448" 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/JCI23237" target="_blank">Full Text</a>]
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de Villiers, C. P., van der Merwe, L., Crotti, L., Goosen, A., George, A. L., Schwartz, P. J., Brink, P. A., Moolman-Smook, J. C., Corfield, V. A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25087618</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25087618[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=25087618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1161/CIRCGENETICS.113.000580" target="_blank">Full Text</a>]
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<strong>Regulatory actions of the A-kinase anchoring protein yotiao on a heart potassium channel downstream of PKA phosphorylation.</strong>
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[<a href="https://doi.org/10.1523/JNEUROSCI.18-06-02017.1998" target="_blank">Full Text</a>]
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Oshimori, N., Li, X., Ohsugi, M., Yamamoto, T.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19536135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19536135</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19536135[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=19536135" 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/emboj.2009.161" target="_blank">Full Text</a>]
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Witczak, O., Skalhegg, B. S., Keryer, G., Bornens, M., Tasken, K., Jahnsen, T., Orstavik, S.
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<strong>Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10202149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10202149</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10202149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Patricia A. Hartz - updated : 7/20/2015<br>Marla J. F. O'Neill - updated : 2/12/2008<br>Marla J. F. O'Neill - updated : 2/2/2005<br>Victor A. McKusick - updated : 12/30/2004<br>Patricia A. Hartz - updated : 4/23/2003<br>Patricia A. Hartz - updated : 4/21/2003
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carol : 07/22/2015<br>carol : 7/21/2015<br>mgross : 7/20/2015<br>mcolton : 7/20/2015<br>terry : 6/4/2012<br>wwang : 2/26/2008<br>terry : 2/12/2008<br>terry : 6/28/2005<br>tkritzer : 2/3/2005<br>terry : 2/2/2005<br>tkritzer : 1/24/2005<br>terry : 12/30/2004<br>terry : 12/30/2004<br>terry : 7/20/2004<br>mgross : 4/29/2003<br>mgross : 4/28/2003<br>mgross : 4/28/2003<br>terry : 4/23/2003<br>terry : 4/21/2003<br>mgross : 9/21/1999<br>mgross : 7/29/1999<br>psherman : 7/26/1999
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<strong>*</strong> 604001
|
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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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A-KINASE ANCHOR PROTEIN 9; AKAP9
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<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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YOTIAO<br />
|
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A-KINASE ANCHOR PROTEIN, 450-KD; AKAP450<br />
|
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CENTROSOME- AND GOLGI-LOCALIZED PROTEIN KINASE N-ASSOCIATED PROTEIN; CGNAP
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<p>
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<span class="mim-font">
|
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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AKAP9/BRAF FUSION GENE, INCLUDED
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</span>
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: AKAP9</em></strong>
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</span>
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</p>
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</div>
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<div>
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<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: 7q21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:91,940,862-92,110,673 </span>
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
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>
|
|
Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
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</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
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<tr>
|
|
<td rowspan="1">
|
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<span class="mim-font">
|
|
7q21.2
|
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</span>
|
|
</td>
|
|
|
|
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<td>
|
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<span class="mim-font">
|
|
?Long QT syndrome 11
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
611820
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
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|
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</tr>
|
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|
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|
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Proper synaptic function requires accurate localization of appropriate ion channels and neurotransmitter receptors to the postsynaptic site. This localization may occur by means of specific interactions between synaptic membrane proteins and a variety of anchoring or clustering molecules. Using a yeast 2-hybrid screen to identify proteins that interact with the intracellular C-terminal tail of the NMDA receptor NR1 subunit (GRIN1; 138249), Lin et al. (1998) isolated human brain cDNAs encoding a novel protein. The presumed full-length coding sequence encodes a predicted 1,642-amino acid protein containing many long coiled-coil regions throughout its length. Due to its coiled-coil structure, the authors named the protein 'yotiao,' after a popular Chinese breakfast food consisting of long strands of fried dough. The interaction of yotiao with NR1 is dependent upon the presence of the 37-amino acid region in the C-terminal tail of NR1 that is encoded by the alternatively spliced C1 exon cassette of NR1. Northern blot analysis of human tissues detected an 11-kb yotiao transcript that was expressed abundantly in skeletal muscle and pancreas, to a lesser degree in heart and placenta, and modestly in brain. Immunohistochemical experiments indicated that yotiao is expressed in a somatodendritic pattern in neurons throughout the rat brain, with prominent expression in the cerebral cortex, hippocampus, and cerebellum. The authors demonstrated that yotiao and NR1 are colocalized in rat brain. Yotiao is predominantly located at the neuromuscular junction in rat skeletal muscle. Biochemical studies showed that yotiao fractionates with cytoskeleton-associated proteins and with the postsynaptic density. Lin et al. (1998) concluded that yotiao is an NR1-binding protein that is potentially involved in the cytoskeletal attachment of NMDA receptors. </p><p>By overlay screening with RII (see 176910), database searches, and PCR of a Jurkat T-lymphocyte expression library, Witczak et al. (1999) cloned AKAP9, which they designated AKAP450. The deduced 3,908-amino acid protein has a calculated molecular mass of about 453 kD. The N-terminal 1,626 amino acids are identical to yotiao except for a 12-amino acid stretch not found in yotiao. The 2 proteins are alternatively spliced products of the AKAP9 gene. Northern blot analysis revealed a 12-kb transcript expressed in most tissues tested, with highest levels in kidney, intermediate levels in brain, heart, placenta, and lung, and low levels in skeletal muscle, liver, small intestine, and peripheral blood leukocytes. Prominent smearing suggested a high level of mRNA degradation. Hybridization with a more 3-prime probe revealed a transcript of about 8 kb that was prominently expressed in liver and kidney. Immunofluorescence localization showed staining of a single perinuclear dot in interphase HeLa cells and staining of 2 polarized dots in metaphase cells. Dual labeling of HeLa cells and Western blot analysis of purified centrosomes from a human lymphoblast cell line confirmed that AKAP9 localized to centrosomes. Western blot analysis revealed 4 distinct proteins in centrosome preparations, with the highest molecular mass protein migrating at about 450 kD. </p><p>Using the N-terminal region of protein kinase N (PKN; 601032) as bait in a yeast 2-hybrid screen of a brain cDNA library, Takahashi et al. (1999) cloned a fragment of AKAP9, which they designated CGNAP. They obtained the full-length cDNA by screening neuroblastoma and HeLa cell cDNA libraries and by RACE of a hippocampus cDNA library. The deduced 3,899-amino acid protein has a calculated molecular mass of about 452 kD. Takahashi et al. (1999) identified N- and C-terminal leucine zipper-like motifs and 2 central RII-binding motifs, as well as coiled-coil regions. Northern blot analysis revealed a 12-kb transcript ubiquitously expressed at low abundance. </p><p>By yeast 2-hybrid screening using Trax (602964) as bait, Bray et al. (2002) cloned Akap9 from a mouse testis cDNA library. Northern blot analysis of mouse tissues detected highest expression of a 14.5-kb transcript in spleen, skeletal muscle, and kidney. Upon overexposure, low levels were also detected in brain, heart, liver, lung, and testis. All tissues showed smearing of the Akap9 transcript. RT-PCR detected Akap9 in brain and testis and in all germ cell stages examined. Confocal microscopy of transfected NIH 3T3 mouse fibroblasts detected predominantly cytosolic localization of Akap9 and concentrated staining around the nucleus. Akap9 colocalized with Trax in a punctate perinuclear pattern. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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|
|
<span class="mim-text-font">
|
|
<p>By genomic sequence analysis, Witczak et al. (1999) mapped the AKAP9 gene to chromosome 7q21-q22. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
<span class="mim-text-font">
|
|
<p>Regulation of NMDA receptor activity by kinases and phosphatases contributes to the modulation of synaptic transmission. Targeting of these enzymes near the substrate has been proposed to enhance phosphorylation-dependent modulation. Westphal et al. (1999) demonstrated that yotiao binds to both the type II regulatory subunit (e.g., 176910) of cAMP-dependent protein kinase (PKA), indicating that it is an A-kinase anchor protein (AKAP), and to type I protein phosphatase (PP1; e.g., 176875). The authors concluded that yotiao is a scaffold protein that physically attaches PP1 and PKA to NMDA receptors to regulate channel activity. By searching nucleotide databases and isolating cDNAs, Westphal et al. (1999) found that the yotiao gene is expressed as multiple alternatively spliced transcripts. </p><p>Witczak et al. (1999) determined that amino acids 2327 to 2602 of AKAP9 bind RII, and that a leu2556-to-pro mutation interfered with the interaction. Immunoprecipitation studies verified interaction between endogenous AKAP9 and RII in HeLa cells. </p><p>Takahashi et al. (1999) found that AKAP9 coimmunoprecipitated with the catalytic subunit of protein phosphatase-2A (see 176915) when the regulatory B subunit (see 604941) was exogenously expressed in COS-7 cells. AKAP9 also interacted with the catalytic subunit of protein phosphatase-1 in HeLa cells. Takahashi et al. (1999) showed that AKAP9 localized to centrosomes throughout the cell cycle, to the midbody at telophase, and to the Golgi apparatus at interphase, where a population of PKN and RII-alpha accumulated. They concluded that AKAP9 is a scaffolding protein that assembles several protein kinases and phosphatases on centrosomes and the Golgi apparatus, where physiologic events may be regulated by the phosphorylation state of specific protein substrates. </p><p>By yeast 2-hybrid analysis and in vitro binding assays, Bray et al. (2002) determined that Akap9 interacts directly with Trax. </p><p>I(Ks) is a slow heart potassium current carried by the I(Ks) potassium channel, critically important in the regulation of the cardiac action potential, particularly in the face of sympathetic nervous system stimulation. The I(Ks) potassium channel is a substrate for PKA phosphorylation in response to sympathetic nerve stimulation. The I(Ks) PKA macromolecular complex consists of an alpha subunit (KCNQ1; 607542), a regulatory subunit (KCNE1; 176261), and the AKAP yotiao, which binds to a leucine zipper motif in the KCNQ1 C terminus and in turn binds PKA and protein phosphatase-1. Disruption of this regulation by mutation in long QT syndrome (see 192500) is associated with elevated risk of sudden death. Kurokawa et al. (2004) studied the effects of the AKAP yotiao on the function of the I(Ks) channel that had been mutated to simulate channel phosphorylation, and they found direct AKAP-mediated alteration of channel function distinct from its role in the coordination of channel phosphorylation by PKA. These data revealed previously undescribed actions of yotiao that occur subsequent to channel phosphorylation and provided evidence that this adaptor protein also may serve as an effector in regulating this important ion channel. </p><p>Using RNA interference with human cell lines, Oshimori et al. (2009) found that knockdown of CGNAP led to failure of centrosomes to nucleate microtubules into astral arrays at the initiation of mitosis, abrogating spindle formation and proper alignment of chromosomes at the metaphase plate. Knockdown studies also revealed that CEP72 (616475) was required for localization of CGNAP to centrosomes and the Golgi apparatus. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Witczak et al. (1999) determined that the AKAP9 gene contains 51 exons and spans more than 170 kb. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cytogenetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ciampi et al. (2005) reported a BRAF (164757)-AKAP9 fusion gene created by paracentric inversion of chromosome 7q, resulting in an in-frame fusion between exons 1-8 of the AKAP9 gene and exons 9-18 of BRAF. The fusion protein contained the protein kinase domain and lacked the autoinhibitory N-terminal portion of BRAF. It had elevated kinase activity and transformed NIH 3T3 cells. The AKAP9-BRAF fusion was preferentially found in radiation-induced papillary carcinomas (see 188550) developing after a short latency. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Long QT Syndrome 11</em></strong></p><p>
|
|
Using GST pull-down and immunoprecipitation studies, Chen et al. (2007) identified 2 KCNQ1-binding domains in the AKAP9 gene, 1 on the N terminus and 1 on the C terminus. They analyzed the 8 exons encoding those 2 domains in 50 patients with LQTS who did not have mutations in any of the known LQTS genes and identified a missense mutation (S1570L; 604001.0001) in 1 patient (LQT11; 611820). The mutation, located in the C-terminal binding site, was not found in 1,320 reference alleles. </p><p><strong><em>Modifier of Long QT Syndrome 1</em></strong></p><p>
|
|
In 349 members of a South African founder population of Afrikaner origin with long QT syndrome (LQT1; 192500), 168 of whom carried an identical-by-descent A341V mutation in the KCNQ1 gene (607542.0010), de Villiers et al. (2014) genotyped 4 SNPs in the AKAP9 gene (rs11772585, rs7808587, rs2282972, and rs2961024) and analyzed the association between phenotypic traits and alleles, genotypes, and haplotypes. The rs2961024 GG genotype, always represented by a homozygous CGCG haplotype (genotypes at all 4 SNPs), was significantly associated with an age-dependent QTc interval increase of 1% per additional 10 years, regardless of A341V mutation status. The rs11772585 T allele, found uniquely in the TACT haplotype, more than doubled the risk of cardiac events in the presence of A314V, and also increased disease severity. The rs7808587 GG genotype was associated with a 74% increase in cardiac event risk, whereas the rs2282972 T allele, predominantly represented by the CATT haplotype, decreased risk by 53%. De Villiers et al. (2014) stated that these results clearly demonstrated that AKAP9 contributes to LQTS phenotypic variability; however, the authors noted that because these SNPs are located in intronic regions of the gene, functional or regulatory variants in linkage disequilibrium with the SNPs were likely to be responsible for the modifying effects. </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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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>1 Selected Example):</strong>
|
|
</span>
|
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</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 LONG QT SYNDROME 11 (1 family)</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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KCNQ1, SER1570LEU
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<br />
|
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|
|
SNP: rs121908566,
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|
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gnomAD: rs121908566,
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ClinVar: RCV000006241, RCV000631713, RCV000756981, RCV002336077
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 13-year-old Caucasian girl with long QT syndrome-11 (LQT11; 611820), Chen et al. (2007) identified heterozygosity for a ser1570-to-leu (S1570L) substitution in the AKAP9 gene, located in the C-terminal KCNQ1-binding region. The patient's father and 2 sisters had also been diagnosed with LQT syndrome; 1 sister who agreed to testing also carried the mutation, which was not found in 1,320 reference alleles. Functional studies indicated that the S1570L mutation reduced interaction between KCNQ1 and yotiao, reduced cAMP-induced phosphorylation of KCNQ1, and eliminated functional response of the I(Ks) channel to cAMP; a computational model of the ventricular cardiocyte showed prolongation of the action potential. </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">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
|
<ol>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Bray, J. D., Chennathukuzhi, V. M., Hecht, N. B.
|
|
<strong>Identification and characterization of cDNAs encoding four novel proteins that interact with translin associated factor-X.</strong>
|
|
Genomics 79: 799-808, 2002.
|
|
|
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|
|
[PubMed: 12036294]
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|
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[Full Text: https://doi.org/10.1006/geno.2002.6779]
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|
|
</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, L., Marquardt, M. L., Tester, D. J., Sampson, K. J., Ackerman, M. J., Kass, R. S.
|
|
<strong>Mutation of an A-kinase-anchoring protein causes long-QT syndrome.</strong>
|
|
Proc. Nat. Acad. Sci. 104: 20990-20995, 2007.
|
|
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|
|
[PubMed: 18093912]
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|
|
[Full Text: https://doi.org/10.1073/pnas.0710527105]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ciampi, R., Knauf, J. A., Kerler, R., Gandhi, M., Zhu, Z., Nikiforova, M. N., Rabes, H. M., Fagin, J. A., Nikiforov, Y. E.
|
|
<strong>Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer.</strong>
|
|
J. Clin. Invest. 115: 94-101, 2005.
|
|
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|
|
[PubMed: 15630448]
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|
|
[Full Text: https://doi.org/10.1172/JCI23237]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
de Villiers, C. P., van der Merwe, L., Crotti, L., Goosen, A., George, A. L., Schwartz, P. J., Brink, P. A., Moolman-Smook, J. C., Corfield, V. A.
|
|
<strong>AKAP9 is a genetic modifier of congenital long-QT syndrome type 1.</strong>
|
|
Circ. Cardiovasc. Genet. 7: 599-606, 2014.
|
|
|
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|
|
[PubMed: 25087618]
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[Full Text: https://doi.org/10.1161/CIRCGENETICS.113.000580]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kurokawa, J., Motoike, H. K., Rao, J., Kass, R. S.
|
|
<strong>Regulatory actions of the A-kinase anchoring protein yotiao on a heart potassium channel downstream of PKA phosphorylation.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 16374-16378, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 17884 only, 2004.
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[PubMed: 15528278]
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[Full Text: https://doi.org/10.1073/pnas.0405583101]
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Lin, J. W., Wyszynski, M., Madhavan, R., Sealock, R., Kim, J. U., Sheng, M.
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Oshimori, N., Li, X., Ohsugi, M., Yamamoto, T.
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Takahashi, M., Shibata, H., Shimakawa, M., Miyamoto, M., Mukai, H., Ono, Y.
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Westphal, R. S., Tavalin, S. J., Lin, J. W., Alto, N. M., Fraser, I. D. C., Langeberg, L. K., Sheng, M., Scott, J. D.
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Witczak, O., Skalhegg, B. S., Keryer, G., Bornens, M., Tasken, K., Jahnsen, T., Orstavik, S.
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