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Entry
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- *115440 - CASEIN KINASE II, ALPHA-1; CSNK2A1
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- OMIM
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<p>
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<span class="h4">*115440</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#geneFunction">Gene Function</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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<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/115440">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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<div id="mimFloatingLinksMenu">
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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="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=ENSG00000101266;t=ENST00000217244" 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=1457" 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=115440" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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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=ENSG00000101266;t=ENST00000217244" 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_001362770,NM_001362771,NM_001895,NM_177559,NM_177560" 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_177559" 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=115440" 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=00277&isoform_id=00277_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/CSNK2A1" 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/177994,598147,4503095,15079696,29570791,29570793,31565484,49522732,54696446,55249572,55977123,82395817,86156152,119631070,119631071,119631072,119631073,119631074,189069096,194380142,197692259,197692523,1383483394,1383483670" 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/P68400" 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=1457" 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=ENSG00000101266;t=ENST00000217244" 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=CSNK2A1" 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=CSNK2A1" 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+1457" 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/CSNK2A1" 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:1457" 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/1457" 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=chr20&hgg_gene=ENST00000217244.9&hgg_start=472498&hgg_end=543790&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2457" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2457" 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=115440[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=115440[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/CSNK2A1/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/ENSG00000101266" 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=CSNK2A1" 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=CSNK2A1" 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=CSNK2A1" 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://lovd.bx.psu.edu/home.php?select_db=CSNK2A1" 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=CSNK2A1&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/PA26957" 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:2457" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0264492.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:88543" 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/CSNK2A1#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:88543" 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/1457/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=1457" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00002191;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-990415-27" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1457" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CSNK2A1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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115440
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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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CASEIN KINASE II, ALPHA-1; CSNK2A1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
CASEIN KINASE II, ALPHA SUBUNIT; CK2A1
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CSNK2A1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CSNK2A1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/20/13?start=-3&limit=10&highlight=13">20p13</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:472498-543790&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'})">20:472,498-543,790</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
|
<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
|
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|
<tr>
|
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<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/20/13?start=-3&limit=10&highlight=13">
|
|
20p13
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Okur-Chung neurodevelopmental syndrome
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/617062"> 617062 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/115440" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/115440" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<p>CSNK2A1 encodes the alpha subunit of the heterodimeric casein kinase II protein, which is ubiquitously expressed and has an important role in cellular growth, proliferation, and apoptosis (summary by <a href="#3" class="mim-tip-reference" title="Chiu, A. T. G., Pei, S. L. C., Mak, C. C. Y., Leung, G. K. C., Yu, M. H. C., Lee, S. L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T. M.-T., Nambot, S., and 10 others. <strong>Okur-Chung neurodevelopmental syndrome: eight additional cases with implications on phenotype and genotype expansion.</strong> Clin. Genet. 93: 880-890, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29240241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29240241</a>] [<a href="https://doi.org/10.1111/cge.13196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29240241">Chiu et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29240241" 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>Casein kinase II is a serine/threonine kinase that phosphorylates acidic protein such as casein. It has a tetrameric a(2)/b(2) structure. The alpha subunit of molecular mass 40 kD possesses catalytic activity, whereas the beta subunit (<a href="/entry/115441">115441</a>), molecular mass 25 kD, is autophosphorylated in vitro. <a href="#9" class="mim-tip-reference" title="Meisner, H., Heller-Harrison, R., Buxton, J., Czech, M. P. <strong>Molecular cloning of the human casein kinase II alpha subunit.</strong> Biochemistry 28: 4072-4076, 1989. Note: Erratum: Biochemistry 28: 7138 only, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2752008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2752008</a>] [<a href="https://doi.org/10.1021/bi00435a066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2752008">Meisner et al. (1989)</a> reported the identification and nucleotide sequencing of a complete human cDNA for the alpha subunit. Using the full-length cDNA probe, <a href="#9" class="mim-tip-reference" title="Meisner, H., Heller-Harrison, R., Buxton, J., Czech, M. P. <strong>Molecular cloning of the human casein kinase II alpha subunit.</strong> Biochemistry 28: 4072-4076, 1989. Note: Erratum: Biochemistry 28: 7138 only, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2752008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2752008</a>] [<a href="https://doi.org/10.1021/bi00435a066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2752008">Meisner et al. (1989)</a> found 2 bands with restriction enzymes that have no recognition sites within the cDNA and 3 to 6 bands with enzymes having single internal sites. These results were considered consistent with the existence of 2 genes encoding alpha subunits. See <a href="/entry/115442">115442</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2752008" 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="#13" class="mim-tip-reference" title="Wirkner, U., Voss, H., Lichter, P., Ansorge, W., Pyerin, W. <strong>The human gene (CSNK2A1) coding for the casein kinase II subunit alpha is located on chromosome 20 and contains tandemly arranged Alu repeats.</strong> Genomics 19: 257-265, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188256</a>] [<a href="https://doi.org/10.1006/geno.1994.1056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188256">Wirkner et al. (1994)</a> demonstrated that the CSNK2A1 gene contains 8 exons whose sequences comprise bases 102 to 824 of the coding region of the human casein kinase II alpha subunit. Three of the 9 introns are located at positions corresponding to those of the homologous gene in the nematode Caenorhabditis elegans. The introns contain 8 complete and 8 incomplete Alu repeats. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188256" 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>Phosphorylation of the human p53 protein (<a href="/entry/191170">191170</a>) at ser392 is responsive to ultraviolet (UV) but not gamma irradiation. <a href="#5" class="mim-tip-reference" title="Keller, D. M., Zeng, X., Wang, Y., Zhang, Q. H., Kapoor, M., Shu, H., Goodman, R., Lozano, G., Zhao, Y., Lu, H. <strong>A DNA damage-induced p53 serine 392 kinase complex contains CK2, hSpt16, and SSRP1.</strong> Molec. Cell 7: 283-292, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11239457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11239457</a>] [<a href="https://doi.org/10.1016/s1097-2765(01)00176-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11239457">Keller et al. (2001)</a> identified and purified a mammalian UV-activated protein kinase complex that phosphorylates ser392 in vitro. This kinase complex contains CK2 and the chromatin transcriptional elongation factor FACT, a heterodimer of SPT16 (<a href="/entry/605012">605012</a>) and SSRP1 (<a href="/entry/604328">604328</a>). In vitro studies showed that FACT alters the specificity of CK2 in the complex such that it selectively phosphorylates p53 over other substrates, including casein. In addition, phosphorylation by the kinase complex was found to enhance p53 activity. These results provided a potential mechanism for p53 activation by UV irradiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S. <strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong> Science 297: 1700-1703, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12215646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12215646</a>] [<a href="https://doi.org/10.1126/science.1075327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12215646">Doray et al. (2002)</a> demonstrated that the Golgi-localized, gamma-ear-containing adenosine diphosphate ribosylation factor-binding proteins (GGA1, <a href="/entry/606004">606004</a> and GGA3, <a href="/entry/606006">606006</a>) and the coat protein adaptor protein-1 (AP-1) complex (see AP1G2, <a href="/entry/603534">603534</a>) colocalize in clathrin-coated buds of the trans-Golgi networks of mouse L cells and human HeLa cells. Binding studies revealed a direct interaction between the hinge domains of the GGAs and the gamma-ear domain of AP-1. Further, AP-1 contained bound casein kinase-2 that phosphorylated GGA1 and GGA3, thereby causing autoinhibition. <a href="#4" class="mim-tip-reference" title="Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S. <strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong> Science 297: 1700-1703, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12215646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12215646</a>] [<a href="https://doi.org/10.1126/science.1075327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12215646">Doray et al. (2002)</a> demonstrated that this autoinhibition could induce the directed transfer of mannose 6-phosphate receptors (see <a href="/entry/154540">154540</a>) from the GGAs to AP-1. Mannose 6-phosphate receptors that were defective in binding to GGAs were poorly incorporated into adaptor protein complex containing clathrin coated vesicles. Thus, <a href="#4" class="mim-tip-reference" title="Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S. <strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong> Science 297: 1700-1703, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12215646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12215646</a>] [<a href="https://doi.org/10.1126/science.1075327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12215646">Doray et al. (2002)</a> concluded that GGAs and the AP-1 complex interact to package mannose 6-phosphate receptors into AP-1-containing coated vesicles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12215646" 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="#7" class="mim-tip-reference" title="Lin, J.-M., Kilman, V. L., Keegan, K., Paddock, B., Emery-Le, M., Rosbash, M., Allada, R. <strong>A role for casein kinase 2-alpha in the Drosophila circadian clock.</strong> Nature 420: 816-820, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12447397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12447397</a>] [<a href="https://doi.org/10.1038/nature01235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12447397">Lin et al. (2002)</a> identified a Drosophila circadian mutant, Timekeeper (Tik), that behaved in a dominant manner. Tik homozygotes do not live to adulthood, and heterozygotes have a circadian rhythm lengthened by about 3 hours. <a href="#7" class="mim-tip-reference" title="Lin, J.-M., Kilman, V. L., Keegan, K., Paddock, B., Emery-Le, M., Rosbash, M., Allada, R. <strong>A role for casein kinase 2-alpha in the Drosophila circadian clock.</strong> Nature 420: 816-820, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12447397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12447397</a>] [<a href="https://doi.org/10.1038/nature01235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12447397">Lin et al. (2002)</a> showed that the catalytic subunit of Drosophila casein kinase-2 (CK2-alpha) is expressed predominantly in the cytoplasm of key circadian pacemaker neurons. CK2-alpha mutant flies showed lengthened circadian period, decreased CK2 activity, and delayed nuclear entry of Per (see <a href="/entry/602260">602260</a>). <a href="#7" class="mim-tip-reference" title="Lin, J.-M., Kilman, V. L., Keegan, K., Paddock, B., Emery-Le, M., Rosbash, M., Allada, R. <strong>A role for casein kinase 2-alpha in the Drosophila circadian clock.</strong> Nature 420: 816-820, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12447397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12447397</a>] [<a href="https://doi.org/10.1038/nature01235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12447397">Lin et al. (2002)</a> suggested that these are probably direct, as CK2-alpha specifically phosphorylates Per in vitro. <a href="#7" class="mim-tip-reference" title="Lin, J.-M., Kilman, V. L., Keegan, K., Paddock, B., Emery-Le, M., Rosbash, M., Allada, R. <strong>A role for casein kinase 2-alpha in the Drosophila circadian clock.</strong> Nature 420: 816-820, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12447397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12447397</a>] [<a href="https://doi.org/10.1038/nature01235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12447397">Lin et al. (2002)</a> proposed that CK2 is an evolutionary link between the divergent circadian systems of animals, plants, and fungi. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12447397" 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="Loizou, J. I., El-Khamisy, S. F., Zlatanou, A., Moore, D. J., Chan, D. W., Qin, J., Sarno, S., Meggio, F., Pinna, L. A., Caldecott, K. W. <strong>The protein kinase CK2 facilitates repair of chromosomal DNA single-strand breaks.</strong> Cell 117: 17-28, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15066279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15066279</a>] [<a href="https://doi.org/10.1016/s0092-8674(04)00206-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15066279">Loizou et al. (2004)</a> showed that CK2 phosphorylates the scaffold protein XRCC1 (<a href="/entry/194360">194360</a>) and thereby enables the assembly and activity of DNA single-strand break repair protein complexes in vitro and at sites of chromosome breakage. Inhibition of XRCC1 phosphorylation by mutation of the CK2 phosphorylation sites or by preventing CK2 activity using a highly specific inhibitor ablated the rapid repair of cellular DNA single-strand breaks by XRCC1. These data identified a direct role for CK2 in the repair of chromosome DNA strand breaks and in maintaining genetic integrity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15066279" 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>Downstream core promoter elements (DPE) are regulatory sequences that add diversity to the promoter architecture of RNA polymerase II-transcribed genes. Despite a functional correlation between the presence of TFIID (<a href="/entry/313650">313650</a>) and DPE, <a href="#6" class="mim-tip-reference" title="Lewis, B. A., Sims, R. J., III, Lane, W. S., Reinberg, D. <strong>Functional characterization of core promoter elements: DPE-specific transcription requires the protein kinase CK2 and the PC4 coactivator.</strong> Molec. Cell 18: 471-481, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15893730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15893730</a>] [<a href="https://doi.org/10.1016/j.molcel.2005.04.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15893730">Lewis et al. (2005)</a> found that TFIID was insufficient for DPE-specific transcription in HeLa cells. Using a functional transcription assay coupled with conventional biochemistry, they found that protein kinase CK2, in conjunction with the coactivator PC4 (<a href="/entry/600503">600503</a>), established DPE-specific transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15893730" 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 segregation analysis of rodent-human somatic cell hybrids and chromosomal in situ hybridization, <a href="#15" class="mim-tip-reference" title="Yang-Feng, T. L., Zheng, K., Kopatz, I., Naiman, T., Canaani, D. <strong>Mapping of the human casein kinase II catalytic subunit genes: two loci carrying the homologous sequences for the alpha subunit.</strong> Nucleic Acids Res. 19: 7125-7129, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1766873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1766873</a>] [<a href="https://doi.org/10.1093/nar/19.25.7125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1766873">Yang-Feng et al. (1991)</a> identified 2 loci for the alpha subunit of casein kinase II: 11p15.5-p.15.4 and 20p13. Whether one of these is a pseudogene remained to be determined. <a href="#2" class="mim-tip-reference" title="Boldyreff, B., Klett, C., Gottert, E., Geurts van Kessel, A., Hameister, H., Issinger, O.-G. <strong>Assignment of casein kinase 2 alpha sequences to two different human chromosomes.</strong> Hum. Genet. 89: 79-82, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1577469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1577469</a>] [<a href="https://doi.org/10.1007/BF00207047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1577469">Boldyreff et al. (1992)</a> likewise found 2 assignments by in situ hybridization: 11pter-p15.1 and 20p13. Only the locus on chromosome 11 was confirmed by somatic cell hybrid analysis, based on the presence of a CK2A1-specific 20-kb fragment. However, <a href="#14" class="mim-tip-reference" title="Wirkner, U., Voss, H., Lichter, P., Weitz, S., Ansorge, W., Pyerin, W. <strong>Human casein kinase II subunit alpha: sequence of a processed (pseudo)gene and its localization on chromosome 11.</strong> Biochim. Biophys. Acta 1131: 220-222, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1610905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1610905</a>] [<a href="https://doi.org/10.1016/0167-4781(92)90083-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1610905">Wirkner et al. (1992)</a> demonstrated that the sequence that maps to 11p15 by in situ hybridization has the characteristics of a processed pseudogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1610905+1577469+1766873" 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 fluorescence in situ hybridization using an 18.9-kb genomic clone representing the central portion of the gene, <a href="#13" class="mim-tip-reference" title="Wirkner, U., Voss, H., Lichter, P., Ansorge, W., Pyerin, W. <strong>The human gene (CSNK2A1) coding for the casein kinase II subunit alpha is located on chromosome 20 and contains tandemly arranged Alu repeats.</strong> Genomics 19: 257-265, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188256</a>] [<a href="https://doi.org/10.1006/geno.1994.1056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188256">Wirkner et al. (1994)</a> mapped CSNK2A1 to 20p13. Using the genomic clone, no hybridization signal was obtained in 11p15 as had previously been the case when the cDNA was used as probe (<a href="#15" class="mim-tip-reference" title="Yang-Feng, T. L., Zheng, K., Kopatz, I., Naiman, T., Canaani, D. <strong>Mapping of the human casein kinase II catalytic subunit genes: two loci carrying the homologous sequences for the alpha subunit.</strong> Nucleic Acids Res. 19: 7125-7129, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1766873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1766873</a>] [<a href="https://doi.org/10.1093/nar/19.25.7125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1766873">Yang-Feng et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8188256+1766873" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 5 unrelated girls with Okur-Chung neurodevelopmental syndrome (OCNDS; <a href="/entry/617062">617062</a>), <a href="#10" class="mim-tip-reference" title="Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., Chung, W. K. <strong>De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.</strong> Hum. Genet. 135: 699-705, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27048600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27048600</a>] [<a href="https://doi.org/10.1007/s00439-016-1661-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27048600">Okur et al. (2016)</a> identified de novo heterozygous mutations in the CSNK2A1 gene (<a href="#0001">115440.0001</a>-<a href="#0005">115440.0005</a>), including 4 missense mutations and 1 splice site mutation. Functional studies of the variants and studies of patient cells were not performed, but <a href="#10" class="mim-tip-reference" title="Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., Chung, W. K. <strong>De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.</strong> Hum. Genet. 135: 699-705, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27048600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27048600</a>] [<a href="https://doi.org/10.1007/s00439-016-1661-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27048600">Okur et al. (2016)</a> noted that the CSNK2A1 gene is expressed in the brain and encodes the catalytic subunit of protein kinase CK2, which is involved in many biologic processes. The mutations were found by whole-exome sequencing of 4,102 patients with developmental delay/intellectual disability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27048600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 7-year-old German boy with OCNDS, <a href="#12" class="mim-tip-reference" title="Trinh, J., Huning, I., Budler, N., Hingst, V., Lohmann, K., Gillessen-Kaesbach, G. <strong>A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.</strong> J. Hum. Genet. 62: 1005-1006, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28725024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28725024</a>] [<a href="https://doi.org/10.1038/jhg.2017.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28725024">Trinh et al. (2017)</a> identified a de novo heterozygous missense mutation (D156H; <a href="#0006">115440.0006</a>) in the CSNK2A1 gene. The mutation was identified by trio exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28725024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Chiu, A. T. G., Pei, S. L. C., Mak, C. C. Y., Leung, G. K. C., Yu, M. H. C., Lee, S. L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T. M.-T., Nambot, S., and 10 others. <strong>Okur-Chung neurodevelopmental syndrome: eight additional cases with implications on phenotype and genotype expansion.</strong> Clin. Genet. 93: 880-890, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29240241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29240241</a>] [<a href="https://doi.org/10.1111/cge.13196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29240241">Chiu et al. (2018)</a> summarized data on 16 de novo heterozygous mutations in the CSNK2A1 gene that had been identified in 22 patients with OCNDS, including their 8 newly reported patients. All but 2 mutations were located in the large protein kinase domain that spans exons 4 to 12. Most of the mutations occurred in exon 9, including the most frequently observed mutation, K198R (<a href="#0002">115440.0002</a>), which was found in 5 patients. The mutations were believed to be disruptive by altering highly conserved amino acids with important roles in stabilization and substrate recognition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29240241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 11 patients with OCNDS from the DDD study, <a href="#11" class="mim-tip-reference" title="Owen, C. I., Bowden, R., Parker, M. J., Patterson, M. J., Patterson, J., Price, S., Sarkar, A., Castle, B., Deshpande, C., Splitt, M., Ghali, N., Dean, J., Green, A. J., Crosby, D., Deciphering Developmental Disorders Study, Tatton-Brown, K. <strong>Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome--a clinical study of 11 individuals.</strong> Am. J. Med. Genet. 176A: 1108-1114, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29383814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29383814</a>] [<a href="https://doi.org/10.1002/ajmg.a.38610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29383814">Owen et al. (2018)</a> identified 8 different de novo heterozygous missense mutations, including the recurrent K198R mutation, which was found in 4 unrelated individuals, leading the authors to suggested that this is a mutation hotspot. None of the mutations were found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29383814" 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://www.ncbi.nlm.nih.gov/clinvar?term=115440[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs869312846 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312846;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs869312846" 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=rs869312846" 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 girl (patient 4) with Okur-Chung neurodevelopmental syndrome (OCNDS; <a href="/entry/617062">617062</a>), <a href="#10" class="mim-tip-reference" title="Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., Chung, W. K. <strong>De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.</strong> Hum. Genet. 135: 699-705, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27048600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27048600</a>] [<a href="https://doi.org/10.1007/s00439-016-1661-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27048600">Okur et al. (2016)</a> identified a de novo heterozygous T-to-C transition (c.824+2T-C) in intron 10 of the CSNK2A1 gene, predicted to result in a splice site variant. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27048600" 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> rs869312840 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312840;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/rs869312840?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=rs869312840" 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=rs869312840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000210367 OR RCV000239482 OR RCV001267578 OR RCV001420211 OR RCV002273990" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000210367, RCV000239482, RCV001267578, RCV001420211, RCV002273990" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000210367...</a>
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<p>In a 4.5-year-old girl (patient 2) with Okur-Chung neurodevelopmental syndrome (OCNDS; <a href="/entry/617062">617062</a>), <a href="#10" class="mim-tip-reference" title="Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., Chung, W. K. <strong>De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.</strong> Hum. Genet. 135: 699-705, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27048600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27048600</a>] [<a href="https://doi.org/10.1007/s00439-016-1661-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27048600">Okur et al. (2016)</a> identified a de novo heterozygous c.593A-G transition in the CSNK2A1 gene, resulting in a lys198-to-arg (K198R) substitution in the highly conserved activation domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27048600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Chiu, A. T. G., Pei, S. L. C., Mak, C. C. Y., Leung, G. K. C., Yu, M. H. C., Lee, S. L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T. M.-T., Nambot, S., and 10 others. <strong>Okur-Chung neurodevelopmental syndrome: eight additional cases with implications on phenotype and genotype expansion.</strong> Clin. Genet. 93: 880-890, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29240241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29240241</a>] [<a href="https://doi.org/10.1111/cge.13196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29240241">Chiu et al. (2018)</a> summarized data on 16 de novo heterozygous CSNK2A1 mutations that had been reported in 22 patients with OCNDS, including their 8 newly reported patients, and found that K198R was the most common mutation, occurring in 5 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29240241" 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>Four of the 8 de novo heterozygous missense mutations in CSNK2A1 identified by <a href="#11" class="mim-tip-reference" title="Owen, C. I., Bowden, R., Parker, M. J., Patterson, M. J., Patterson, J., Price, S., Sarkar, A., Castle, B., Deshpande, C., Splitt, M., Ghali, N., Dean, J., Green, A. J., Crosby, D., Deciphering Developmental Disorders Study, Tatton-Brown, K. <strong>Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome--a clinical study of 11 individuals.</strong> Am. J. Med. Genet. 176A: 1108-1114, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29383814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29383814</a>] [<a href="https://doi.org/10.1002/ajmg.a.38610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29383814">Owen et al. (2018)</a> in patients with OCNDS were K198R, leading the authors to propose that this is a mutation hotspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29383814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Akahira-Azuma, M., Tsurusaki, Y., Enomoto, Y., Mitsui, J., Kurosawa, K. <strong>Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.</strong> Hum. Genome Var. 5: 18011, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29619237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29619237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29619237[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/hgv.2018.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29619237">Akahira-Azuma et al. (2018)</a> identified de novo heterozygosity for the recurrent K198R mutation in the CSNK2A1 gene in an 8-year-old Japanese boy with OCNDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29619237" 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">rs869312848 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312848;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs869312848" 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=rs869312848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000239534" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239534" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239534</a>
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<p>In a 4-year-old girl (patient 3) with Okur-Chung neurodevelopmental syndrome (OCNDS; <a href="/entry/617062">617062</a>), <a href="#10" class="mim-tip-reference" title="Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., Chung, W. K. <strong>De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.</strong> Hum. Genet. 135: 699-705, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27048600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27048600</a>] [<a href="https://doi.org/10.1007/s00439-016-1661-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27048600">Okur et al. (2016)</a> identified a de novo heterozygous c.524A-G transition in the CSNK2A1 gene, resulting in an asp175-to-gly (D175G) substitution in the highly conserved activation domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27048600" 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">rs869312849 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312849;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs869312849" 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=rs869312849" 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 2-year-old girl (patient 5) with Okur-Chung neurodevelopmental syndrome (OCNDS; <a href="/entry/617062">617062</a>), <a href="#10" class="mim-tip-reference" title="Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., Chung, W. K. <strong>De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.</strong> Hum. Genet. 135: 699-705, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27048600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27048600</a>] [<a href="https://doi.org/10.1007/s00439-016-1661-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27048600">Okur et al. (2016)</a> identified a de novo heterozygous c.149A-C transversion in the CSNK2A1 gene, resulting in a tyr50-to-ser (Y50S) substitution in the highly conserved ATP/GTP binding loop. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27048600" 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">rs869312845 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs869312845;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs869312845" 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=rs869312845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000239488 OR RCV000622338" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000239488, RCV000622338" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000239488...</a>
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<p>In a 6-year-old girl (patient 1) with Okur-Chung neurodevelopmental syndrome (OCNDS; <a href="/entry/617062">617062</a>), <a href="#10" class="mim-tip-reference" title="Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., Chung, W. K. <strong>De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.</strong> Hum. Genet. 135: 699-705, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27048600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27048600</a>] [<a href="https://doi.org/10.1007/s00439-016-1661-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27048600">Okur et al. (2016)</a> identified a de novo heterozygous c.140G-A transition in the CSNK2A1 gene, resulting in an arg47-to-gln (R47Q) substitution in the highly conserved ATP/GTP binding loop. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27048600" 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">rs1568512728 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1568512728;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1568512728" 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=rs1568512728" 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 7-year-old German boy with Okur-Chung neurodevelopmental syndrome (OCNDS; <a href="/entry/617062">617062</a>), <a href="#12" class="mim-tip-reference" title="Trinh, J., Huning, I., Budler, N., Hingst, V., Lohmann, K., Gillessen-Kaesbach, G. <strong>A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.</strong> J. Hum. Genet. 62: 1005-1006, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28725024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28725024</a>] [<a href="https://doi.org/10.1038/jhg.2017.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28725024">Trinh et al. (2017)</a> identified a do novo heterozygous c.466G-C transversion (chr20.476407, GRCh37) in the CSNK2A1 gene, resulting in an asp156-to-his (D156H) substitution. The mutation was found by trio exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28725024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1568532361 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1568532361;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1568532361" 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=rs1568532361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000757922 OR RCV003442059" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000757922, RCV003442059" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000757922...</a>
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<p>In a 2.5-year-old girl with Okur-Chung neurodevelopmental syndrome (OCNDS; <a href="/entry/617062">617062</a>), <a href="#3" class="mim-tip-reference" title="Chiu, A. T. G., Pei, S. L. C., Mak, C. C. Y., Leung, G. K. C., Yu, M. H. C., Lee, S. L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T. M.-T., Nambot, S., and 10 others. <strong>Okur-Chung neurodevelopmental syndrome: eight additional cases with implications on phenotype and genotype expansion.</strong> Clin. Genet. 93: 880-890, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29240241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29240241</a>] [<a href="https://doi.org/10.1111/cge.13196" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29240241">Chiu et al. (2018)</a> identified a de novo heterozygous c.1A-G transition (c.1A-G, NM_177559.2) in the CSNK2A2 gene, resulting in a met1-to-val (M1V) substitution. The mutation was predicted to lead to a loss of amino acids 1 to 137, the position of the next in-frame start codon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29240241" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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|
|
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|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
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<a id="Akahira-Azuma2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Akahira-Azuma, M., Tsurusaki, Y., Enomoto, Y., Mitsui, J., Kurosawa, K.
|
|
<strong>Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.</strong>
|
|
Hum. Genome Var. 5: 18011, 2018. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29619237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29619237</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29619237[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=29619237" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1038/hgv.2018.11" target="_blank">Full Text</a>]
|
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|
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</p>
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|
|
|
|
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|
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<a id="2" class="mim-anchor"></a>
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<a id="Boldyreff1992" class="mim-anchor"></a>
|
|
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|
|
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|
|
Boldyreff, B., Klett, C., Gottert, E., Geurts van Kessel, A., Hameister, H., Issinger, O.-G.
|
|
<strong>Assignment of casein kinase 2 alpha sequences to two different human chromosomes.</strong>
|
|
Hum. Genet. 89: 79-82, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1577469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1577469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1577469" 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/10.1007/BF00207047" target="_blank">Full Text</a>]
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|
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|
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<a id="3" class="mim-anchor"></a>
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<a id="Chiu2018" class="mim-anchor"></a>
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Chiu, A. T. G., Pei, S. L. C., Mak, C. C. Y., Leung, G. K. C., Yu, M. H. C., Lee, S. L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T. M.-T., Nambot, S., and 10 others.
|
|
<strong>Okur-Chung neurodevelopmental syndrome: eight additional cases with implications on phenotype and genotype expansion.</strong>
|
|
Clin. Genet. 93: 880-890, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29240241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29240241</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29240241" 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/10.1111/cge.13196" target="_blank">Full Text</a>]
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|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Doray2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S.
|
|
<strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong>
|
|
Science 297: 1700-1703, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12215646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12215646</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12215646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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|
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[<a href="https://doi.org/10.1126/science.1075327" target="_blank">Full Text</a>]
|
|
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|
|
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|
|
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|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Keller2001" class="mim-anchor"></a>
|
|
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|
|
<p class="mim-text-font">
|
|
Keller, D. M., Zeng, X., Wang, Y., Zhang, Q. H., Kapoor, M., Shu, H., Goodman, R., Lozano, G., Zhao, Y., Lu, H.
|
|
<strong>A DNA damage-induced p53 serine 392 kinase complex contains CK2, hSpt16, and SSRP1.</strong>
|
|
Molec. Cell 7: 283-292, 2001.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11239457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11239457</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239457" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1016/s1097-2765(01)00176-9" target="_blank">Full Text</a>]
|
|
|
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|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
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|
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<a id="Lewis2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lewis, B. A., Sims, R. J., III, Lane, W. S., Reinberg, D.
|
|
<strong>Functional characterization of core promoter elements: DPE-specific transcription requires the protein kinase CK2 and the PC4 coactivator.</strong>
|
|
Molec. Cell 18: 471-481, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15893730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15893730</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15893730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1016/j.molcel.2005.04.005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Lin2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lin, J.-M., Kilman, V. L., Keegan, K., Paddock, B., Emery-Le, M., Rosbash, M., Allada, R.
|
|
<strong>A role for casein kinase 2-alpha in the Drosophila circadian clock.</strong>
|
|
Nature 420: 816-820, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12447397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12447397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12447397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature01235" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Loizou2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Loizou, J. I., El-Khamisy, S. F., Zlatanou, A., Moore, D. J., Chan, D. W., Qin, J., Sarno, S., Meggio, F., Pinna, L. A., Caldecott, K. W.
|
|
<strong>The protein kinase CK2 facilitates repair of chromosomal DNA single-strand breaks.</strong>
|
|
Cell 117: 17-28, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15066279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15066279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15066279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0092-8674(04)00206-5" target="_blank">Full Text</a>]
|
|
|
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|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Meisner1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meisner, H., Heller-Harrison, R., Buxton, J., Czech, M. P.
|
|
<strong>Molecular cloning of the human casein kinase II alpha subunit.</strong>
|
|
Biochemistry 28: 4072-4076, 1989. Note: Erratum: Biochemistry 28: 7138 only, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2752008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2752008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2752008" 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/10.1021/bi00435a066" target="_blank">Full Text</a>]
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|
|
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|
|
</p>
|
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</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
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<a id="Okur2016" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., Chung, W. K.
|
|
<strong>De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.</strong>
|
|
Hum. Genet. 135: 699-705, 2016.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27048600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27048600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27048600" 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/10.1007/s00439-016-1661-y" target="_blank">Full Text</a>]
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</li>
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<li>
|
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<a id="11" class="mim-anchor"></a>
|
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<a id="Owen2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
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|
|
Owen, C. I., Bowden, R., Parker, M. J., Patterson, M. J., Patterson, J., Price, S., Sarkar, A., Castle, B., Deshpande, C., Splitt, M., Ghali, N., Dean, J., Green, A. J., Crosby, D., Deciphering Developmental Disorders Study, Tatton-Brown, K.
|
|
<strong>Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome--a clinical study of 11 individuals.</strong>
|
|
Am. J. Med. Genet. 176A: 1108-1114, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29383814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29383814</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29383814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.38610" target="_blank">Full Text</a>]
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</li>
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<li>
|
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<a id="12" class="mim-anchor"></a>
|
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|
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|
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<p class="mim-text-font">
|
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Trinh, J., Huning, I., Budler, N., Hingst, V., Lohmann, K., Gillessen-Kaesbach, G.
|
|
<strong>A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.</strong>
|
|
J. Hum. Genet. 62: 1005-1006, 2017.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28725024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28725024</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28725024" 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/jhg.2017.73" target="_blank">Full Text</a>]
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</li>
|
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|
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|
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<a id="Wirkner1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
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Wirkner, U., Voss, H., Lichter, P., Ansorge, W., Pyerin, W.
|
|
<strong>The human gene (CSNK2A1) coding for the casein kinase II subunit alpha is located on chromosome 20 and contains tandemly arranged Alu repeats.</strong>
|
|
Genomics 19: 257-265, 1994.
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1056" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Wirkner1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wirkner, U., Voss, H., Lichter, P., Weitz, S., Ansorge, W., Pyerin, W.
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<strong>Human casein kinase II subunit alpha: sequence of a processed (pseudo)gene and its localization on chromosome 11.</strong>
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Biochim. Biophys. Acta 1131: 220-222, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1610905/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1610905</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1610905" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0167-4781(92)90083-c" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Yang-Feng1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang-Feng, T. L., Zheng, K., Kopatz, I., Naiman, T., Canaani, D.
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<strong>Mapping of the human casein kinase II catalytic subunit genes: two loci carrying the homologous sequences for the alpha subunit.</strong>
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Nucleic Acids Res. 19: 7125-7129, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1766873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1766873</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1766873" 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/10.1093/nar/19.25.7125" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 02/19/2019
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 08/04/2016<br>Patricia A. Hartz - updated : 6/24/2005<br>Stylianos E. Antonarakis - updated : 4/13/2004<br>Ada Hamosh - updated : 11/25/2002<br>Ada Hamosh - updated : 10/23/2002<br>Stylianos E. Antonarakis - updated : 3/12/2001
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/12/1989
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 10/24/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 07/25/2019<br>carol : 02/20/2019<br>carol : 02/19/2019<br>carol : 08/05/2016<br>carol : 08/05/2016<br>ckniffin : 08/04/2016<br>carol : 03/19/2013<br>carol : 3/19/2013<br>mgross : 6/24/2005<br>mgross : 4/13/2004<br>mgross : 4/13/2004<br>mgross : 9/18/2003<br>alopez : 12/19/2002<br>alopez : 12/3/2002<br>terry : 11/25/2002<br>alopez : 10/23/2002<br>alopez : 10/23/2002<br>mgross : 3/12/2001<br>mgross : 3/12/2001<br>psherman : 10/22/1999<br>dkim : 6/30/1998<br>mark : 1/19/1998<br>mark : 10/16/1996<br>carol : 4/12/1994<br>carol : 10/8/1992<br>carol : 6/11/1992<br>carol : 3/25/1992<br>supermim : 3/16/1992<br>carol : 1/2/1991
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<span class="mim-font">
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<strong>*</strong> 115440
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<h3>
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CASEIN KINASE II, ALPHA-1; CSNK2A1
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</span>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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CASEIN KINASE II, ALPHA SUBUNIT; CK2A1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CSNK2A1</em></strong>
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<strong>
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<em>
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Cytogenetic location: 20p13
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:472,498-543,790 </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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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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20p13
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<span class="mim-font">
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Okur-Chung neurodevelopmental syndrome
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</td>
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<span class="mim-font">
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617062
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>CSNK2A1 encodes the alpha subunit of the heterodimeric casein kinase II protein, which is ubiquitously expressed and has an important role in cellular growth, proliferation, and apoptosis (summary by Chiu et al., 2018). </p>
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</span>
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<br />
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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 class="mim-text-font">
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<p>Casein kinase II is a serine/threonine kinase that phosphorylates acidic protein such as casein. It has a tetrameric a(2)/b(2) structure. The alpha subunit of molecular mass 40 kD possesses catalytic activity, whereas the beta subunit (115441), molecular mass 25 kD, is autophosphorylated in vitro. Meisner et al. (1989) reported the identification and nucleotide sequencing of a complete human cDNA for the alpha subunit. Using the full-length cDNA probe, Meisner et al. (1989) found 2 bands with restriction enzymes that have no recognition sites within the cDNA and 3 to 6 bands with enzymes having single internal sites. These results were considered consistent with the existence of 2 genes encoding alpha subunits. See 115442. </p>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Wirkner et al. (1994) demonstrated that the CSNK2A1 gene contains 8 exons whose sequences comprise bases 102 to 824 of the coding region of the human casein kinase II alpha subunit. Three of the 9 introns are located at positions corresponding to those of the homologous gene in the nematode Caenorhabditis elegans. The introns contain 8 complete and 8 incomplete Alu repeats. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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<span class="mim-text-font">
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<p>Phosphorylation of the human p53 protein (191170) at ser392 is responsive to ultraviolet (UV) but not gamma irradiation. Keller et al. (2001) identified and purified a mammalian UV-activated protein kinase complex that phosphorylates ser392 in vitro. This kinase complex contains CK2 and the chromatin transcriptional elongation factor FACT, a heterodimer of SPT16 (605012) and SSRP1 (604328). In vitro studies showed that FACT alters the specificity of CK2 in the complex such that it selectively phosphorylates p53 over other substrates, including casein. In addition, phosphorylation by the kinase complex was found to enhance p53 activity. These results provided a potential mechanism for p53 activation by UV irradiation. </p><p>Doray et al. (2002) demonstrated that the Golgi-localized, gamma-ear-containing adenosine diphosphate ribosylation factor-binding proteins (GGA1, 606004 and GGA3, 606006) and the coat protein adaptor protein-1 (AP-1) complex (see AP1G2, 603534) colocalize in clathrin-coated buds of the trans-Golgi networks of mouse L cells and human HeLa cells. Binding studies revealed a direct interaction between the hinge domains of the GGAs and the gamma-ear domain of AP-1. Further, AP-1 contained bound casein kinase-2 that phosphorylated GGA1 and GGA3, thereby causing autoinhibition. Doray et al. (2002) demonstrated that this autoinhibition could induce the directed transfer of mannose 6-phosphate receptors (see 154540) from the GGAs to AP-1. Mannose 6-phosphate receptors that were defective in binding to GGAs were poorly incorporated into adaptor protein complex containing clathrin coated vesicles. Thus, Doray et al. (2002) concluded that GGAs and the AP-1 complex interact to package mannose 6-phosphate receptors into AP-1-containing coated vesicles. </p><p>Lin et al. (2002) identified a Drosophila circadian mutant, Timekeeper (Tik), that behaved in a dominant manner. Tik homozygotes do not live to adulthood, and heterozygotes have a circadian rhythm lengthened by about 3 hours. Lin et al. (2002) showed that the catalytic subunit of Drosophila casein kinase-2 (CK2-alpha) is expressed predominantly in the cytoplasm of key circadian pacemaker neurons. CK2-alpha mutant flies showed lengthened circadian period, decreased CK2 activity, and delayed nuclear entry of Per (see 602260). Lin et al. (2002) suggested that these are probably direct, as CK2-alpha specifically phosphorylates Per in vitro. Lin et al. (2002) proposed that CK2 is an evolutionary link between the divergent circadian systems of animals, plants, and fungi. </p><p>Loizou et al. (2004) showed that CK2 phosphorylates the scaffold protein XRCC1 (194360) and thereby enables the assembly and activity of DNA single-strand break repair protein complexes in vitro and at sites of chromosome breakage. Inhibition of XRCC1 phosphorylation by mutation of the CK2 phosphorylation sites or by preventing CK2 activity using a highly specific inhibitor ablated the rapid repair of cellular DNA single-strand breaks by XRCC1. These data identified a direct role for CK2 in the repair of chromosome DNA strand breaks and in maintaining genetic integrity. </p><p>Downstream core promoter elements (DPE) are regulatory sequences that add diversity to the promoter architecture of RNA polymerase II-transcribed genes. Despite a functional correlation between the presence of TFIID (313650) and DPE, Lewis et al. (2005) found that TFIID was insufficient for DPE-specific transcription in HeLa cells. Using a functional transcription assay coupled with conventional biochemistry, they found that protein kinase CK2, in conjunction with the coactivator PC4 (600503), established DPE-specific transcription. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By segregation analysis of rodent-human somatic cell hybrids and chromosomal in situ hybridization, Yang-Feng et al. (1991) identified 2 loci for the alpha subunit of casein kinase II: 11p15.5-p.15.4 and 20p13. Whether one of these is a pseudogene remained to be determined. Boldyreff et al. (1992) likewise found 2 assignments by in situ hybridization: 11pter-p15.1 and 20p13. Only the locus on chromosome 11 was confirmed by somatic cell hybrid analysis, based on the presence of a CK2A1-specific 20-kb fragment. However, Wirkner et al. (1992) demonstrated that the sequence that maps to 11p15 by in situ hybridization has the characteristics of a processed pseudogene. </p><p>By fluorescence in situ hybridization using an 18.9-kb genomic clone representing the central portion of the gene, Wirkner et al. (1994) mapped CSNK2A1 to 20p13. Using the genomic clone, no hybridization signal was obtained in 11p15 as had previously been the case when the cDNA was used as probe (Yang-Feng et al., 1991). </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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 5 unrelated girls with Okur-Chung neurodevelopmental syndrome (OCNDS; 617062), Okur et al. (2016) identified de novo heterozygous mutations in the CSNK2A1 gene (115440.0001-115440.0005), including 4 missense mutations and 1 splice site mutation. Functional studies of the variants and studies of patient cells were not performed, but Okur et al. (2016) noted that the CSNK2A1 gene is expressed in the brain and encodes the catalytic subunit of protein kinase CK2, which is involved in many biologic processes. The mutations were found by whole-exome sequencing of 4,102 patients with developmental delay/intellectual disability. </p><p>In a 7-year-old German boy with OCNDS, Trinh et al. (2017) identified a de novo heterozygous missense mutation (D156H; 115440.0006) in the CSNK2A1 gene. The mutation was identified by trio exome sequencing and confirmed by Sanger sequencing. </p><p>Chiu et al. (2018) summarized data on 16 de novo heterozygous mutations in the CSNK2A1 gene that had been identified in 22 patients with OCNDS, including their 8 newly reported patients. All but 2 mutations were located in the large protein kinase domain that spans exons 4 to 12. Most of the mutations occurred in exon 9, including the most frequently observed mutation, K198R (115440.0002), which was found in 5 patients. The mutations were believed to be disruptive by altering highly conserved amino acids with important roles in stabilization and substrate recognition. </p><p>Among 11 patients with OCNDS from the DDD study, Owen et al. (2018) identified 8 different de novo heterozygous missense mutations, including the recurrent K198R mutation, which was found in 4 unrelated individuals, leading the authors to suggested that this is a mutation hotspot. None of the mutations were found in the gnomAD database. </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">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</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>.0001 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME</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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CSNK2A1, IVS10DS, T-C, +2
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<br />
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SNP: rs869312846,
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ClinVar: RCV000239569
|
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</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 13-year-old girl (patient 4) with Okur-Chung neurodevelopmental syndrome (OCNDS; 617062), Okur et al. (2016) identified a de novo heterozygous T-to-C transition (c.824+2T-C) in intron 10 of the CSNK2A1 gene, predicted to result in a splice site variant. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. </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>.0002 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME</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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CSNK2A1, LYS198ARG
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<br />
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SNP: rs869312840,
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gnomAD: rs869312840,
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ClinVar: RCV000210367, RCV000239482, RCV001267578, RCV001420211, RCV002273990
|
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|
|
</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 4.5-year-old girl (patient 2) with Okur-Chung neurodevelopmental syndrome (OCNDS; 617062), Okur et al. (2016) identified a de novo heterozygous c.593A-G transition in the CSNK2A1 gene, resulting in a lys198-to-arg (K198R) substitution in the highly conserved activation domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. </p><p>Chiu et al. (2018) summarized data on 16 de novo heterozygous CSNK2A1 mutations that had been reported in 22 patients with OCNDS, including their 8 newly reported patients, and found that K198R was the most common mutation, occurring in 5 patients. </p><p>Four of the 8 de novo heterozygous missense mutations in CSNK2A1 identified by Owen et al. (2018) in patients with OCNDS were K198R, leading the authors to propose that this is a mutation hotspot. </p><p>Akahira-Azuma et al. (2018) identified de novo heterozygosity for the recurrent K198R mutation in the CSNK2A1 gene in an 8-year-old Japanese boy with OCNDS. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
|
|
</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
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CSNK2A1, ASP175GLY
|
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|
|
|
<br />
|
|
|
|
SNP: rs869312848,
|
|
|
|
|
|
|
|
ClinVar: RCV000239534
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 4-year-old girl (patient 3) with Okur-Chung neurodevelopmental syndrome (OCNDS; 617062), Okur et al. (2016) identified a de novo heterozygous c.524A-G transition in the CSNK2A1 gene, resulting in an asp175-to-gly (D175G) substitution in the highly conserved activation domain. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<br />
|
|
</div>
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|
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSNK2A1, TYR50SER
|
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|
|
<br />
|
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|
|
SNP: rs869312849,
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|
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|
|
ClinVar: RCV000239568
|
|
|
|
|
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</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2-year-old girl (patient 5) with Okur-Chung neurodevelopmental syndrome (OCNDS; 617062), Okur et al. (2016) identified a de novo heterozygous c.149A-C transversion in the CSNK2A1 gene, resulting in a tyr50-to-ser (Y50S) substitution in the highly conserved ATP/GTP binding loop. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSNK2A1, ARG47GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs869312845,
|
|
|
|
|
|
|
|
ClinVar: RCV000239488, RCV000622338
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 6-year-old girl (patient 1) with Okur-Chung neurodevelopmental syndrome (OCNDS; 617062), Okur et al. (2016) identified a de novo heterozygous c.140G-A transition in the CSNK2A1 gene, resulting in an arg47-to-gln (R47Q) substitution in the highly conserved ATP/GTP binding loop. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases, or in 24,578 in-house control exomes. Functional studies of the variant and studies of patient cells were not performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSNK2A1, ASP156HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1568512728,
|
|
|
|
|
|
|
|
ClinVar: RCV000757921
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old German boy with Okur-Chung neurodevelopmental syndrome (OCNDS; 617062), Trinh et al. (2017) identified a do novo heterozygous c.466G-C transversion (chr20.476407, GRCh37) in the CSNK2A1 gene, resulting in an asp156-to-his (D156H) substitution. The mutation was found by trio exome sequencing and confirmed by Sanger sequencing. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CSNK2A1, MET1VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1568532361,
|
|
|
|
|
|
|
|
ClinVar: RCV000757922, RCV003442059
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 2.5-year-old girl with Okur-Chung neurodevelopmental syndrome (OCNDS; 617062), Chiu et al. (2018) identified a de novo heterozygous c.1A-G transition (c.1A-G, NM_177559.2) in the CSNK2A2 gene, resulting in a met1-to-val (M1V) substitution. The mutation was predicted to lead to a loss of amino acids 1 to 137, the position of the next in-frame start codon. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Akahira-Azuma, M., Tsurusaki, Y., Enomoto, Y., Mitsui, J., Kurosawa, K.
|
|
<strong>Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.</strong>
|
|
Hum. Genome Var. 5: 18011, 2018. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 29619237]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/hgv.2018.11]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Boldyreff, B., Klett, C., Gottert, E., Geurts van Kessel, A., Hameister, H., Issinger, O.-G.
|
|
<strong>Assignment of casein kinase 2 alpha sequences to two different human chromosomes.</strong>
|
|
Hum. Genet. 89: 79-82, 1992.
|
|
|
|
|
|
[PubMed: 1577469]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00207047]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chiu, A. T. G., Pei, S. L. C., Mak, C. C. Y., Leung, G. K. C., Yu, M. H. C., Lee, S. L., Vreeburg, M., Pfundt, R., van der Burgt, I., Kleefstra, T., Frederic, T. M.-T., Nambot, S., and 10 others.
|
|
<strong>Okur-Chung neurodevelopmental syndrome: eight additional cases with implications on phenotype and genotype expansion.</strong>
|
|
Clin. Genet. 93: 880-890, 2018.
|
|
|
|
|
|
[PubMed: 29240241]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/cge.13196]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S.
|
|
<strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong>
|
|
Science 297: 1700-1703, 2002.
|
|
|
|
|
|
[PubMed: 12215646]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1075327]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Keller, D. M., Zeng, X., Wang, Y., Zhang, Q. H., Kapoor, M., Shu, H., Goodman, R., Lozano, G., Zhao, Y., Lu, H.
|
|
<strong>A DNA damage-induced p53 serine 392 kinase complex contains CK2, hSpt16, and SSRP1.</strong>
|
|
Molec. Cell 7: 283-292, 2001.
|
|
|
|
|
|
[PubMed: 11239457]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s1097-2765(01)00176-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lewis, B. A., Sims, R. J., III, Lane, W. S., Reinberg, D.
|
|
<strong>Functional characterization of core promoter elements: DPE-specific transcription requires the protein kinase CK2 and the PC4 coactivator.</strong>
|
|
Molec. Cell 18: 471-481, 2005.
|
|
|
|
|
|
[PubMed: 15893730]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.molcel.2005.04.005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lin, J.-M., Kilman, V. L., Keegan, K., Paddock, B., Emery-Le, M., Rosbash, M., Allada, R.
|
|
<strong>A role for casein kinase 2-alpha in the Drosophila circadian clock.</strong>
|
|
Nature 420: 816-820, 2002.
|
|
|
|
|
|
[PubMed: 12447397]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature01235]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Loizou, J. I., El-Khamisy, S. F., Zlatanou, A., Moore, D. J., Chan, D. W., Qin, J., Sarno, S., Meggio, F., Pinna, L. A., Caldecott, K. W.
|
|
<strong>The protein kinase CK2 facilitates repair of chromosomal DNA single-strand breaks.</strong>
|
|
Cell 117: 17-28, 2004.
|
|
|
|
|
|
[PubMed: 15066279]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(04)00206-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meisner, H., Heller-Harrison, R., Buxton, J., Czech, M. P.
|
|
<strong>Molecular cloning of the human casein kinase II alpha subunit.</strong>
|
|
Biochemistry 28: 4072-4076, 1989. Note: Erratum: Biochemistry 28: 7138 only, 1989.
|
|
|
|
|
|
[PubMed: 2752008]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1021/bi00435a066]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Okur, V., Cho, M. T., Henderson, L., Retterer, K., Schneider, M., Sattler, S., Niyazov, D., Azage, M., Smith, S., Picker, J., Lincoln, S., Tarnopolsky M., Brady, L., Bjornsson, H. T., Applegate, C., Dameron, A., Willaert, R., Baskin, B., Juusola, J., Chung, W. K.
|
|
<strong>De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.</strong>
|
|
Hum. Genet. 135: 699-705, 2016.
|
|
|
|
|
|
[PubMed: 27048600]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-016-1661-y]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Owen, C. I., Bowden, R., Parker, M. J., Patterson, M. J., Patterson, J., Price, S., Sarkar, A., Castle, B., Deshpande, C., Splitt, M., Ghali, N., Dean, J., Green, A. J., Crosby, D., Deciphering Developmental Disorders Study, Tatton-Brown, K.
|
|
<strong>Extending the phenotype associated with the CSNK2A1-related Okur-Chung syndrome--a clinical study of 11 individuals.</strong>
|
|
Am. J. Med. Genet. 176A: 1108-1114, 2018.
|
|
|
|
|
|
[PubMed: 29383814]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.38610]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trinh, J., Huning, I., Budler, N., Hingst, V., Lohmann, K., Gillessen-Kaesbach, G.
|
|
<strong>A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features.</strong>
|
|
J. Hum. Genet. 62: 1005-1006, 2017.
|
|
|
|
|
|
[PubMed: 28725024]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/jhg.2017.73]
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wirkner, U., Voss, H., Lichter, P., Ansorge, W., Pyerin, W.
|
|
<strong>The human gene (CSNK2A1) coding for the casein kinase II subunit alpha is located on chromosome 20 and contains tandemly arranged Alu repeats.</strong>
|
|
Genomics 19: 257-265, 1994.
|
|
|
|
|
|
[PubMed: 8188256]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1994.1056]
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
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Wirkner, U., Voss, H., Lichter, P., Weitz, S., Ansorge, W., Pyerin, W.
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<strong>Human casein kinase II subunit alpha: sequence of a processed (pseudo)gene and its localization on chromosome 11.</strong>
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Biochim. Biophys. Acta 1131: 220-222, 1992.
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[PubMed: 1610905]
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[Full Text: https://doi.org/10.1016/0167-4781(92)90083-c]
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Yang-Feng, T. L., Zheng, K., Kopatz, I., Naiman, T., Canaani, D.
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<strong>Mapping of the human casein kinase II catalytic subunit genes: two loci carrying the homologous sequences for the alpha subunit.</strong>
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Nucleic Acids Res. 19: 7125-7129, 1991.
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[PubMed: 1766873]
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[Full Text: https://doi.org/10.1093/nar/19.25.7125]
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Sonja A. Rasmussen - updated : 02/19/2019<br>Cassandra L. Kniffin - updated : 08/04/2016<br>Patricia A. Hartz - updated : 6/24/2005<br>Stylianos E. Antonarakis - updated : 4/13/2004<br>Ada Hamosh - updated : 11/25/2002<br>Ada Hamosh - updated : 10/23/2002<br>Stylianos E. Antonarakis - updated : 3/12/2001
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Victor A. McKusick : 6/12/1989
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