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Entry
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- *115441 - CASEIN KINASE II, BETA; CSNK2B
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*115441</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<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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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/115441">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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 class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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=ENSG00000204435;t=ENST00000375882" 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=1460" 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=115441" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000204435;t=ENST00000375882" 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_001282385,NM_001320" 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_001320" 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=115441" 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=00278&isoform_id=00278_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/CSNK2B" 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/29965,29967,29969,4337105,15277284,21428317,23503295,49456359,54037520,83699643,85566682,85567104,119623877,119623878,119623879,119623880,189053179,194374087,479274694,479274696,479274698,479274700,479274702,479274714,479274716,479274718,479274724,479274726,538260597,1159610537,1159610539" 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/P67870" 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=1460" 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=ENSG00000204435;t=ENST00000375882" 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=CSNK2B" 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=CSNK2B" 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+1460" 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/CSNK2B" 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:1460" 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/1460" 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=chr6&hgg_gene=ENST00000375882.7&hgg_start=31666080&hgg_end=31670067&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:2460" 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=115441[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=115441[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/CSNK2B/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/ENSG00000204435" 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=CSNK2B" 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=CSNK2B" 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=CSNK2B" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CSNK2B&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/PA26960" 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:2460" 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/FBgn0000259.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:88548" 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/CSNK2B#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:88548" 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/1460/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=1460" 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=WBGene00002196;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-990415-29" 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:1460" 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=CSNK2B&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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115441
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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, BETA; CSNK2B
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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, BETA SUBUNIT; CK2B<br />
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PHOSVITIN
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CSNK2B" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CSNK2B</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/6/320?start=-3&limit=10&highlight=320">6p21.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:31666080-31670067&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'})">6:31,666,080-31,670,067</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/6/320?start=-3&limit=10&highlight=320">
|
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6p21.33
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Poirier-Bienvenu neurodevelopmental syndrome
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
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<a href="/entry/618732"> 618732 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/115441" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/115441" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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<p>The CSNK2B gene encodes a regulatory subunit of casein kinase II (CK2), a highly conserved ubiquitous enzyme consisting of subunits alpha (CSNK2A1; <a href="/entry/115440">115440</a>), alpha-prime (CSNK2A2; <a href="/entry/115442">115442</a>), and beta. It is present in high levels in the brain and appears to be constitutively active. Animal models suggest that CK2 may play a role in dopamine signaling (summary by <a href="#12" class="mim-tip-reference" title="Poirier, K., Hubert, L., Viot, G., Rio, M., Billuart, P., Besmond, C., Bienvenu, T. <strong>CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.</strong> Hum. Mutat. 38: 932-941, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28585349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28585349</a>] [<a href="https://doi.org/10.1002/humu.23270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28585349">Poirier et al., 2017</a>; <a href="#17" class="mim-tip-reference" title="Yang, C.-P., Li, X., Wu, Y., Shen, Q., Zeng, Y., Xiong, Q., Wei, M., Chen, C., Liu, J., Huo, Y., Li, K., Xue, G., Yao, Y.-G., Zhang, C., Li, M., Chen, Y., Luo, X.-J. <strong>Comprehensive integrative analyses identify GLT8D1 and CSNK2B as schizophrenia risk genes.</strong> Nature Commun. 9: 838, 2018. Note: Electronic Article. Erratum: Nature Commun. 9: 4905 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29483533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29483533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29483533[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/s41467-018-03247-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29483533">Yang et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29483533+28585349" 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>CK2 is a ubiquitous serine/threonine kinase, localized in both the cytoplasm and the nucleus. <a href="#8" class="mim-tip-reference" title="Jakobi, R., Voss, H., Pyerin, W. <strong>Human phosvitin/casein kinase type II: molecular cloning and sequencing of full-length cDNA encoding subunit beta.</strong> Europ. J. Biochem. 183: 227-233, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2666134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2666134</a>] [<a href="https://doi.org/10.1111/j.1432-1033.1989.tb14917.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2666134">Jakobi et al. (1989)</a> prepared subunit beta from human placenta and determined the amino acid sequence of a protease digestion peptide. The deduced nucleotide sequence was used for the synthesis of a mixture of 20-mers as a hybridization probe to screen a lambda-gt10 HeLa cell cDNA library for clones encoding the beta subunit. The beta subunit presumably serves regulatory functions. <a href="#6" class="mim-tip-reference" title="Heller-Harrison, R. A., Meisner, H., Czech, M. P. <strong>Cloning and characterization of a cDNA encoding the beta subunit of human casein kinase II.</strong> Biochemistry 28: 9053-9058, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2513884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2513884</a>] [<a href="https://doi.org/10.1021/bi00449a014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2513884">Heller-Harrison et al. (1989)</a> found evidence of a single gene. They described a cDNA of 2.57 kb containing 96 bp of 5-prime untranslated sequence, 645 bp of open reading frame, and 1,832 bp of 3-prime untranslated sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2666134+2513884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Li, J., Gao, K., Cai, S., Liu, Y., Wang, Y., Huang, S., Zha, J., Hu, W., Yu, S., Yang, Z., Xie, H., Yan, H., Wang, J., Wu, Y., Jiang, Y. <strong>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</strong> Sci. Rep. 9: 17909, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31784560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31784560</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31784560[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/s41598-019-53484-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31784560">Li et al. (2019)</a> noted that the CSNK2B gene is highly expressed in the developing prefrontal cortex, with lesser expression in childhood and adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31784560" 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="#16" class="mim-tip-reference" title="Voss, H., Wirkner, U., Jacoki, R., Hewitt, N. A., Schwager, C., Zimmermann, J., Ansorge, W., Pyerin, W. <strong>Structure of the gene encoding human casein kinase II subunit beta.</strong> J. Biol. Chem. 266: 13706-13711, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1856204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1856204</a>]" pmid="1856204">Voss et al. (1991)</a> analyzed the structure of the gene encoding human casein kinase II subunit beta and <a href="#4" class="mim-tip-reference" title="Boldyreff, B., Issinger, O.-G. <strong>Structure of the gene encoding the murine protein kinase CK2-beta subunit.</strong> Genomics 29: 253-256, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530080</a>] [<a href="https://doi.org/10.1006/geno.1995.1239" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8530080">Boldyreff and Issinger (1995)</a> determined the structure of the mouse counterpart. The latter is composed of 7 exons contained within 7,874 bp. The lengths of the mouse coding exons correspond exactly to the lengths of the exons in the human CK2B gene. Both genes contain a first untranslated exon. Despite common features, a striking difference concerned the human CK2A subunit binding domain at position -170 to -239 of the human gene. This domain has no counterpart in the mouse gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1856204+8530080" 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 hybridization to spot-blotting filters of flow-sorted human chromosomes followed by in situ hybridization, <a href="#18" class="mim-tip-reference" title="Yang-Feng, T. L., Teitz, T., Cheung, M. C., Kan, Y. W., Canaani, D. <strong>Assignment of the human casein kinase II beta-subunit gene to 6p12-p21.</strong> Genomics 8: 741-742, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2276748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2276748</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90266-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2276748">Yang-Feng et al. (1990)</a> mapped the CSNK2B gene to 6p21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2276748" 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="Albertella, M. R., Jones, H., Thomson, W., Olavesen, M. G., Campbell, R. D. <strong>Localization of eight additional genes in the human major histocompatibility complex, including the gene encoding the casein kinase II beta subunit (CSNK2B).</strong> Genomics 36: 240-251, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812450</a>] [<a href="https://doi.org/10.1006/geno.1996.0459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8812450">Albertella et al. (1996)</a> characterized the genes in the central 1,100-kb class III region of the major histocompatibility complex. One of the genes found in this region was identified as CSNK2B. This would suggest that CSNK2B is located in the 6p21.3 region rather than the 6p21.1 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8812450" 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="#15" class="mim-tip-reference" title="Sarno, S., Marin, O., Boschetti, M., Pagano, M. A., Meggio, F., Pinna, L. A. <strong>Cooperative modulation of protein kinase CK2 by separate domains of its regulatory beta-subunit.</strong> Biochemistry 39: 12324-12329, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11015211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11015211</a>] [<a href="https://doi.org/10.1021/bi0011431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11015211">Sarno et al. (2000)</a> reported that a C-terminally truncated form of CK2-beta lacking residues 170 to 215 could not stably associate with the catalytic CK2 subunits. This CK2-beta mutant retained its central homodimerization domain and still existed as a dimer. However, the mutant was defective in a number of other properties mediated by elements still present in its N-terminal half, notably downregulation of catalytic activity, autophosphorylation, and responsiveness to polycationic effectors. All these functions were restored by simultaneous addition of a synthetic peptide reproducing the CK2-beta deleted region, which was able to associate with the catalytic subunits and to stimulate catalytic activity. This peptide includes a segment that shares similarity with a region of cyclin A (see <a href="/entry/604036">604036</a>) involved in activation of CDK2 (<a href="/entry/116953">116953</a>), and <a href="#15" class="mim-tip-reference" title="Sarno, S., Marin, O., Boschetti, M., Pagano, M. A., Meggio, F., Pinna, L. A. <strong>Cooperative modulation of protein kinase CK2 by separate domains of its regulatory beta-subunit.</strong> Biochemistry 39: 12324-12329, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11015211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11015211</a>] [<a href="https://doi.org/10.1021/bi0011431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11015211">Sarno et al. (2000)</a> found that a peptide reproducing this sequence (residues 181 to 203) interacted with the CK2-alpha subunit and stimulated its catalytic activity. This smaller peptide also partially restored the ability of truncated CK2-beta to autophosphorylate. <a href="#15" class="mim-tip-reference" title="Sarno, S., Marin, O., Boschetti, M., Pagano, M. A., Meggio, F., Pinna, L. A. <strong>Cooperative modulation of protein kinase CK2 by separate domains of its regulatory beta-subunit.</strong> Biochemistry 39: 12324-12329, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11015211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11015211</a>] [<a href="https://doi.org/10.1021/bi0011431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11015211">Sarno et al. (2000)</a> concluded that residues 181 to 203 are essential for the regulatory properties of CK2-beta. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11015211" 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>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="#9" 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="#5" 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="#5" 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="#5" 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="#13" class="mim-tip-reference" title="Rodriguez, F. A., Contreras, C., Bolanos-Garcia, V., Allende, J. E. <strong>Protein kinase CK2 as an ectokinase: the role of the regulatory CK2-beta subunit.</strong> Proc. Nat. Acad. Sci. 105: 5693-5698, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18391191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18391191</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18391191[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0802065105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18391191">Rodriguez et al. (2008)</a> stated that, in addition to cytoplasm, nuclei, and other organelles, CK2 localizes to the external side of the cell membrane, where it acts as an ectokinase and phosphorylates extracellular proteins and external domains of proteins. By mutation analysis, they showed that an N-terminal region of Xenopus Ck2-beta containing 2 phenylalanines and an acidic cluster was necessary but not sufficient to allow Ck2-alpha to function as an ectokinase in transfected HEK293 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18391191" 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 vitro cellular studies by <a href="#17" class="mim-tip-reference" title="Yang, C.-P., Li, X., Wu, Y., Shen, Q., Zeng, Y., Xiong, Q., Wei, M., Chen, C., Liu, J., Huo, Y., Li, K., Xue, G., Yao, Y.-G., Zhang, C., Li, M., Chen, Y., Luo, X.-J. <strong>Comprehensive integrative analyses identify GLT8D1 and CSNK2B as schizophrenia risk genes.</strong> Nature Commun. 9: 838, 2018. Note: Electronic Article. Erratum: Nature Commun. 9: 4905 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29483533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29483533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29483533[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/s41467-018-03247-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29483533">Yang et al. (2018)</a> showed that knockdown of the Csnk2b gene in mouse embryonic neural stem cells increased proliferation, impaired cell differentiation, and reduced the dendritic length and branch points compared to controls. Knockdown of Csnk2b also altered synaptic transmission compared to controls. The authors suggested that variation in the CSNK2B gene may contribute to the risk of schizophrenia (SCZD; see <a href="/entry/181500">181500</a>), which is believed to be a disorder related to altered neurodevelopment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29483533" 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>Excessive erythrocytosis is a major hallmark of chronic mountain sickness (CMS; see <a href="/entry/616182">616182</a>), or Monge disease, a clinical syndrome caused by years of exposure to high-altitude hypoxia. Using RNA-sequencing analysis, <a href="#2" class="mim-tip-reference" title="Azad, P., Zhou, D., Tu, H. C., Villafuerte, F. C., Traver, D., Rana, T. M., Haddad, G. G. <strong>Long noncoding RNA HIKER regulates erythropoiesis in Monge's disease via CSNK2B.</strong> J. Clin. Invest. 133: e165831, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37022795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37022795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37022795[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI165831" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37022795">Azad et al. (2023)</a> identified HIKER (LINC02228; <a href="/entry/620525">620525</a>) as a differentially expressed long noncoding RNA in individuals with CMS compared with non-CMS controls under hypoxic conditions. HIKER was upregulated in CMS cells, but not in non-CMS cells. HIKER regulated erythropoiesis in CMS individuals under hypoxia via the downstream factor CSNK2B. Further analysis confirmed that CSNK2B was an erythropoietic regulator in CMS and non-CMS cells under hypoxia and showed that CSNK2B regulated erythropoiesis at high altitude partially through GATA1 (<a href="/entry/305371">305371</a>). Furthermore, csnk2b knockdown induced severe hemoglobinization defects in zebrafish embryos, confirming an evolutionarily conserved role of CSNK2B in erythropoiesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37022795" 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 2 unrelated patients with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; <a href="/entry/618732">618732</a>), <a href="#12" class="mim-tip-reference" title="Poirier, K., Hubert, L., Viot, G., Rio, M., Billuart, P., Besmond, C., Bienvenu, T. <strong>CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.</strong> Hum. Mutat. 38: 932-941, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28585349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28585349</a>] [<a href="https://doi.org/10.1002/humu.23270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28585349">Poirier et al. (2017)</a> identified de novo heterozygous splice site mutations in the CSNK2B gene (<a href="#0001">115441.0001</a> and <a href="#0002">115441.0002</a>). The mutations, which were found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, were not found in the 1000 Genomes Project and ExAC databases. Analysis of patient cells showed decreased mRNA levels compared to controls, and RT-PCR showed that the mutations resulted in exon skipping and premature termination, consistent with haploinsufficiency and a loss of function. However, the authors noted that the mutations may induce the production of an aberrant truncated protein. <a href="#12" class="mim-tip-reference" title="Poirier, K., Hubert, L., Viot, G., Rio, M., Billuart, P., Besmond, C., Bienvenu, T. <strong>CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.</strong> Hum. Mutat. 38: 932-941, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28585349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28585349</a>] [<a href="https://doi.org/10.1002/humu.23270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28585349">Poirier et al. (2017)</a> postulated that the mutations may cause abnormal dopamine signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28585349" 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 21-month-old Japanese boy with POBINDS, <a href="#14" class="mim-tip-reference" title="Sakaguchi, Y., Uehara, T., Suzuki, H., Kosaki, K., Takenouchi, T. <strong>Truncating mutation in CSNK2B and myoclonic epilepsy. (Letter)</strong> Hum. Mutat. 38: 1611-1612, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28762608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28762608</a>] [<a href="https://doi.org/10.1002/humu.23307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28762608">Sakaguchi et al. (2017)</a> identified a de novo heterozygous frameshift mutation in the CSNK2B gene (<a href="#0003">115441.0003</a>). The mutation was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28762608" 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 15-year-old Malaysian girl (patient 3) with POBINDS, <a href="#11" class="mim-tip-reference" title="Nakashima, M., Tohyama, J., Nakagawa, E., Watanabe, Y., Siew, C. G., Kwong, C. S., Yamoto, K., Hiraide, T., Fukuda, T., Kaname, T., Nakabayashi, K., Hata, K., Ogata, T., Saitsu, H., Matsumoto, N. <strong>Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.</strong> J. Hum. Genet. 64: 313-322, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655572</a>] [<a href="https://doi.org/10.1038/s10038-018-0559-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30655572">Nakashima et al. (2019)</a> identified a de novo heterozygous frameshift mutation in the CSNK2B gene (<a href="#0004">115441.0004</a>). The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was classified as pathogenic according to ACMG guidelines. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed, but was unable to bind with CSNK2A1 (<a href="/entry/115440">115440</a>), which may induce instability of the CK2 holoenzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30655572" 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 9 unrelated patients with POBINDS, <a href="#10" class="mim-tip-reference" title="Li, J., Gao, K., Cai, S., Liu, Y., Wang, Y., Huang, S., Zha, J., Hu, W., Yu, S., Yang, Z., Xie, H., Yan, H., Wang, J., Wu, Y., Jiang, Y. <strong>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</strong> Sci. Rep. 9: 17909, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31784560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31784560</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31784560[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/s41598-019-53484-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31784560">Li et al. (2019)</a> identified de novo heterozygous mutations in the CSNK2B gene (see, e.g., <a href="#0005">115441.0005</a>-<a href="#0007">115441.0007</a>). The mutations, which were found by trio-based whole-exome sequencing of a cohort of 816 probands with epilepsy, were confirmed by Sanger sequencing. The mutations occurred throughout the gene and comprised 4 missense variants, 3 frameshifts, and 1 splice site mutation. None of the variants were found in the 1000 Genomes Project or gnomAD databases; all were predicted to be pathogenic (8) or likely pathogenic (1) by ACMG criteria, but only 4 had predictive evidence of 'very strong' pathogenicity. Functional studies of the variants and studies of patient cells were not performed. Five variants occurred in the zinc-binding domain, suggesting a hotspot; all of these patients responded to antiepileptic treatment. However, patients with missense mutations could have a severe phenotype and those with frameshift mutations could have a mild phenotype, precluding establishment of a definitive genotype/phenotype correlation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31784560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Blond, O., Jensen, H. H., Buchou, T., Cochet, C., Issinger, O.-G., Boldyreff, B. <strong>Knocking out the regulatory beta subunit of protein kinase CK2 in mice: gene dosage effects in ES cells and embryos.</strong> Molec. Cell Biochem. 274: 31-37, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16335526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16335526</a>] [<a href="https://doi.org/10.1007/s11010-005-3117-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16335526">Blond et al. (2005)</a> found that complete knockout of the Csnk2b gene in mice was embryonic lethal. Heterozygous knockout mice did not exhibit any abnormalities, although the number of heterozygous offspring was lower than expected, suggesting that some heterozygous mice do not survive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16335526" 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="Huillard, E., Ziercher, L., Blond, O., Wong, M., Deloulme, J.-C., Souchelnytsky, S., Baudier, J., Cochet, C., Buchou, T. <strong>Disruption of CK2-beta in embryonic neural stem cells compromises proliferation and oligodendrogenesis in the mouse telencephalon.</strong> Molec. Cell Biol. 30: 2737-2749, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20368359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20368359</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20368359[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/10.1128/MCB.01566-09" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20368359">Huillard et al. (2010)</a> found that mice with Ck2b deletion in neural stem/progenitor cells (NSCs) of developing brain were born at the expected mendelian ratio, but they did not feed and died shortly after birth. Loss of Ck2b in embryonic NSCs compromised forebrain NSC proliferation and impaired NSC differentiation to develop oligodendrocyte precursor cells (OPCs), resulting in defects in telencephalon development in brain. In vitro analyses identified Olig2 (<a href="/entry/606386">606386</a>), a critical modulator of OPC development, as a Ck2b-dependent substrate. Ck2b interacted directly with the bHLH domain of Olig2, and Ck2 phosphorylated Olig2 on its serine/threonine-rich (STR) domain. The phosphorylated STR domain was involved in the oligodendroglial function of Olig2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20368359" 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 a 10-year-old boy (patient 1) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; <a href="/entry/618732">618732</a>), <a href="#12" class="mim-tip-reference" title="Poirier, K., Hubert, L., Viot, G., Rio, M., Billuart, P., Besmond, C., Bienvenu, T. <strong>CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.</strong> Hum. Mutat. 38: 932-941, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28585349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28585349</a>] [<a href="https://doi.org/10.1002/humu.23270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28585349">Poirier et al. (2017)</a> identified a de novo heterozygous T-to-C transition (c.367+2T-C, NM_001320.5) affecting a splice site in intron 5 of the CSNK2B gene. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project or ExAC database. Analysis of patient cells showed decreased mRNA levels compared to controls, and RT-PCR showed that the mutation resulted in the skipping of exon 5 and premature termination (Leu98AlafsTer11), consistent with haploinsufficiency and a loss of function. However, the authors noted that the mutation may induce the production of an aberrant truncated protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28585349" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Li, J., Gao, K., Cai, S., Liu, Y., Wang, Y., Huang, S., Zha, J., Hu, W., Yu, S., Yang, Z., Xie, H., Yan, H., Wang, J., Wu, Y., Jiang, Y. <strong>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</strong> Sci. Rep. 9: 17909, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31784560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31784560</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31784560[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/s41598-019-53484-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31784560">Li et al. (2019)</a> noted that this mutation affects the zinc-binding domain and that the patient reported by <a href="#12" class="mim-tip-reference" title="Poirier, K., Hubert, L., Viot, G., Rio, M., Billuart, P., Besmond, C., Bienvenu, T. <strong>CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.</strong> Hum. Mutat. 38: 932-941, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28585349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28585349</a>] [<a href="https://doi.org/10.1002/humu.23270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28585349">Poirier et al. (2017)</a> did not have seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28585349+31784560" 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">rs1583605716 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1583605716;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=rs1583605716" 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=rs1583605716" 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=RCV000993565 OR RCV004818102" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000993565, RCV004818102" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000993565...</a>
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<p>In a 19-year-old man (patient 2) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; <a href="/entry/618732">618732</a>), <a href="#12" class="mim-tip-reference" title="Poirier, K., Hubert, L., Viot, G., Rio, M., Billuart, P., Besmond, C., Bienvenu, T. <strong>CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.</strong> Hum. Mutat. 38: 932-941, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28585349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28585349</a>] [<a href="https://doi.org/10.1002/humu.23270" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28585349">Poirier et al. (2017)</a> identified a de novo heterozygous T-to-G transversion (c.175+2T-G, NM_001320.5) affecting a splice site in intron 3 of the CSNK2B gene. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project or ExAC databases. Analysis of patient cells showed decreased mRNA levels compared to controls, and RT-PCR showed that the mutation resulted in the skipping of exon 3 and caused premature termination (Val25MetfsTer13), consistent with haploinsufficiency and a loss of function. However, the authors noted that the mutation may induce the production of an aberrant truncated protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28585349" 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">rs1131692161 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1131692161;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=rs1131692161" 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=rs1131692161" 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=RCV000495848 OR RCV000993566" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000495848, RCV000993566" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000495848...</a>
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<p>In a 21-month-old Japanese boy with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; <a href="/entry/618732">618732</a>), <a href="#14" class="mim-tip-reference" title="Sakaguchi, Y., Uehara, T., Suzuki, H., Kosaki, K., Takenouchi, T. <strong>Truncating mutation in CSNK2B and myoclonic epilepsy. (Letter)</strong> Hum. Mutat. 38: 1611-1612, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28762608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28762608</a>] [<a href="https://doi.org/10.1002/humu.23307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28762608">Sakaguchi et al. (2017)</a> identified a de novo heterozygous 1-bp duplication (c.108dup, NM_001320.6) in exon 3 of the CSNK2B gene, predicted to result in a frameshift and premature termination (Thr37Tyrfs). The mutation was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing. 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=28762608" 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">rs1583611843 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1583611843;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=rs1583611843" 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=rs1583611843" 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 15-year-old Malaysian girl (patient 3) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; <a href="/entry/618732">618732</a>), <a href="#11" class="mim-tip-reference" title="Nakashima, M., Tohyama, J., Nakagawa, E., Watanabe, Y., Siew, C. G., Kwong, C. S., Yamoto, K., Hiraide, T., Fukuda, T., Kaname, T., Nakabayashi, K., Hata, K., Ogata, T., Saitsu, H., Matsumoto, N. <strong>Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.</strong> J. Hum. Genet. 64: 313-322, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655572</a>] [<a href="https://doi.org/10.1038/s10038-018-0559-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30655572">Nakashima et al. (2019)</a> identified a de novo heterozygous 2-bp insertion (c.533_534insGT, NM_001320.5) in the CSNK2B gene, resulting in a frameshift and premature termination (Pro179TyrfsTer49). The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was classified as pathogenic according to ACMG guidelines. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed, but was unable to bind with CSNK2A1 (<a href="/entry/115440">115440</a>), which may induce instability of the CK2 holoenzyme. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30655572" 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">rs1583613268 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1583613268;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=rs1583613268" 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=rs1583613268" 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 3-year-old Chinese girl (P2) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; <a href="/entry/618732">618732</a>), <a href="#10" class="mim-tip-reference" title="Li, J., Gao, K., Cai, S., Liu, Y., Wang, Y., Huang, S., Zha, J., Hu, W., Yu, S., Yang, Z., Xie, H., Yan, H., Wang, J., Wu, Y., Jiang, Y. <strong>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</strong> Sci. Rep. 9: 17909, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31784560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31784560</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31784560[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/s41598-019-53484-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31784560">Li et al. (2019)</a> identified a de novo heterozygous 1-bp insertion (c.620_621insC, NM_001320) in exon 7 of the CSNK2B gene, predicted to result in a frameshift and premature termination (Phe207PhefsTer39). The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in several public databases, including gnomAD. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in haploinsufficiency and was classified as strongly pathogenic according to ACMG guidelines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31784560" 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">rs1583608557 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1583608557;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=rs1583608557" 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=rs1583608557" 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=RCV000993569" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000993569" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000993569</a>
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<p>This variant, formerly designated POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME, has been reclassified because the numbering of the variant in the article by <a href="#10" class="mim-tip-reference" title="Li, J., Gao, K., Cai, S., Liu, Y., Wang, Y., Huang, S., Zha, J., Hu, W., Yu, S., Yang, Z., Xie, H., Yan, H., Wang, J., Wu, Y., Jiang, Y. <strong>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</strong> Sci. Rep. 9: 17909, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31784560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31784560</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31784560[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/s41598-019-53484-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31784560">Li et al. (2019)</a> does not correspond with the cited reference sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31784560" 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 2-year-old Chinese boy (P5) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; <a href="/entry/618732">618732</a>), <a href="#10" class="mim-tip-reference" title="Li, J., Gao, K., Cai, S., Liu, Y., Wang, Y., Huang, S., Zha, J., Hu, W., Yu, S., Yang, Z., Xie, H., Yan, H., Wang, J., Wu, Y., Jiang, Y. <strong>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</strong> Sci. Rep. 9: 17909, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31784560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31784560</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31784560[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/s41598-019-53484-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31784560">Li et al. (2019)</a> identified a de novo heterozygous 1-bp deletion (c.264delC, NM_001320) in exon 4 of the CSNK2B gene, predicted to result in a frameshift and premature termination (Ile88IlefsTer46). The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in several public databases, including gnomAD. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in haploinsufficiency and was classified as strongly pathogenic according to ACMG guidelines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31784560" 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 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME</strong>
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CSNK2B, IVS5AS, A-G, -2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1583611290 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1583611290;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=rs1583611290" 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=rs1583611290" 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=RCV000993570" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000993570" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000993570</a>
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<p>In a 6-month-old Chinese girl (P9) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; <a href="/entry/618732">618732</a>), <a href="#10" class="mim-tip-reference" title="Li, J., Gao, K., Cai, S., Liu, Y., Wang, Y., Huang, S., Zha, J., Hu, W., Yu, S., Yang, Z., Xie, H., Yan, H., Wang, J., Wu, Y., Jiang, Y. <strong>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</strong> Sci. Rep. 9: 17909, 2019. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31784560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31784560</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31784560[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/s41598-019-53484-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31784560">Li et al. (2019)</a> identified a de novo heterozygous A-to-G transition in intron 5 of the CSNK2B gene (c.368-2A-G), predicted to result in a splice site alteration. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in several public databases, including gnomAD. Functional studies of the variant and studies of patient cells were not performed, but it was predicted to result in haploinsufficiency and was classified as strongly pathogenic according to ACMG guidelines. The mutation affected the zinc-binding domain, and the patient had controlled seizures and mildly impaired development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31784560" 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>REFERENCES</strong>
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<a id="Albertella1996" class="mim-anchor"></a>
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Albertella, M. R., Jones, H., Thomson, W., Olavesen, M. G., Campbell, R. D.
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<strong>Localization of eight additional genes in the human major histocompatibility complex, including the gene encoding the casein kinase II beta subunit (CSNK2B).</strong>
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Genomics 36: 240-251, 1996.
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[<a href="https://doi.org/10.1006/geno.1996.0459" target="_blank">Full Text</a>]
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Azad, P., Zhou, D., Tu, H. C., Villafuerte, F. C., Traver, D., Rana, T. M., Haddad, G. G.
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<strong>Long noncoding RNA HIKER regulates erythropoiesis in Monge's disease via CSNK2B.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37022795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37022795</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=37022795[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=37022795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Blond, O., Jensen, H. H., Buchou, T., Cochet, C., Issinger, O.-G., Boldyreff, B.
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<strong>Knocking out the regulatory beta subunit of protein kinase CK2 in mice: gene dosage effects in ES cells and embryos.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16335526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16335526</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16335526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Boldyreff, B., Issinger, O.-G.
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<strong>Structure of the gene encoding the murine protein kinase CK2-beta subunit.</strong>
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Genomics 29: 253-256, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8530080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8530080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8530080" 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.1995.1239" target="_blank">Full Text</a>]
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Doray, B., Ghosh, P., Griffith, J., Geuze, H. J., Kornfeld, S.
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<strong>Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network.</strong>
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Science 297: 1700-1703, 2002.
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[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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Heller-Harrison, R. A., Meisner, H., Czech, M. P.
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<strong>Cloning and characterization of a cDNA encoding the beta subunit of human casein kinase II.</strong>
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Biochemistry 28: 9053-9058, 1989.
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[<a href="https://doi.org/10.1021/bi00449a014" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2666134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2666134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2666134" 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/j.1432-1033.1989.tb14917.x" target="_blank">Full Text</a>]
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Keller, D. M., Zeng, X., Wang, Y., Zhang, Q. H., Kapoor, M., Shu, H., Goodman, R., Lozano, G., Zhao, Y., Lu, H.
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<strong>A DNA damage-induced p53 serine 392 kinase complex contains CK2, hSpt16, and SSRP1.</strong>
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Molec. Cell 7: 283-292, 2001.
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[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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[<a href="https://doi.org/10.1016/s1097-2765(01)00176-9" target="_blank">Full Text</a>]
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Li2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, J., Gao, K., Cai, S., Liu, Y., Wang, Y., Huang, S., Zha, J., Hu, W., Yu, S., Yang, Z., Xie, H., Yan, H., Wang, J., Wu, Y., Jiang, Y.
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<strong>Germline de novo variants in CSNK2B in Chinese patients with epilepsy.</strong>
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Sci. Rep. 9: 17909, 2019. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31784560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31784560</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31784560[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=31784560" 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/s41598-019-53484-9" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Nakashima2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nakashima, M., Tohyama, J., Nakagawa, E., Watanabe, Y., Siew, C. G., Kwong, C. S., Yamoto, K., Hiraide, T., Fukuda, T., Kaname, T., Nakabayashi, K., Hata, K., Ogata, T., Saitsu, H., Matsumoto, N.
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<strong>Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.</strong>
|
|
J. Hum. Genet. 64: 313-322, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30655572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30655572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30655572" 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/s10038-018-0559-z" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Poirier2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Poirier, K., Hubert, L., Viot, G., Rio, M., Billuart, P., Besmond, C., Bienvenu, T.
|
|
<strong>CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.</strong>
|
|
Hum. Mutat. 38: 932-941, 2017.
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|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28585349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28585349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28585349" 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/humu.23270" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Rodriguez2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rodriguez, F. A., Contreras, C., Bolanos-Garcia, V., Allende, J. E.
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<strong>Protein kinase CK2 as an ectokinase: the role of the regulatory CK2-beta subunit.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 5693-5698, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18391191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18391191</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18391191[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=18391191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0802065105" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Sakaguchi2017" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sakaguchi, Y., Uehara, T., Suzuki, H., Kosaki, K., Takenouchi, T.
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<strong>Truncating mutation in CSNK2B and myoclonic epilepsy. (Letter)</strong>
|
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Hum. Mutat. 38: 1611-1612, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28762608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28762608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28762608" 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/humu.23307" target="_blank">Full Text</a>]
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Sarno2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sarno, S., Marin, O., Boschetti, M., Pagano, M. A., Meggio, F., Pinna, L. A.
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<strong>Cooperative modulation of protein kinase CK2 by separate domains of its regulatory beta-subunit.</strong>
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Biochemistry 39: 12324-12329, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11015211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11015211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11015211" 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/bi0011431" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Voss1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Voss, H., Wirkner, U., Jacoki, R., Hewitt, N. A., Schwager, C., Zimmermann, J., Ansorge, W., Pyerin, W.
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<strong>Structure of the gene encoding human casein kinase II subunit beta.</strong>
|
|
J. Biol. Chem. 266: 13706-13711, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1856204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1856204</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1856204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Yang2018" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, C.-P., Li, X., Wu, Y., Shen, Q., Zeng, Y., Xiong, Q., Wei, M., Chen, C., Liu, J., Huo, Y., Li, K., Xue, G., Yao, Y.-G., Zhang, C., Li, M., Chen, Y., Luo, X.-J.
|
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<strong>Comprehensive integrative analyses identify GLT8D1 and CSNK2B as schizophrenia risk genes.</strong>
|
|
Nature Commun. 9: 838, 2018. Note: Electronic Article. Erratum: Nature Commun. 9: 4905 only, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29483533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29483533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29483533[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=29483533" 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/s41467-018-03247-3" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Yang-Feng1990" 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., Teitz, T., Cheung, M. C., Kan, Y. W., Canaani, D.
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<strong>Assignment of the human casein kinase II beta-subunit gene to 6p12-p21.</strong>
|
|
Genomics 8: 741-742, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2276748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2276748</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2276748" 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/10.1016/0888-7543(90)90266-w" target="_blank">Full Text</a>]
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</p>
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</div>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 09/26/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 03/06/2020<br>Cassandra L. Kniffin - updated : 01/13/2020<br>Matthew B. Gross - updated : 06/11/2008<br>Patricia A. Hartz - updated : 6/6/2008<br>Ada Hamosh - updated : 10/23/2002<br>Stylianos E. Antonarakis - updated : 3/12/2001
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 11/22/1989
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/14/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
mgross : 09/26/2023<br>carol : 01/04/2022<br>carol : 03/03/2021<br>carol : 03/18/2020<br>mgross : 03/06/2020<br>mgross : 03/06/2020<br>carol : 01/15/2020<br>ckniffin : 01/13/2020<br>mgross : 06/11/2008<br>terry : 6/6/2008<br>mgross : 9/18/2003<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>mark : 1/19/1998<br>mark : 10/9/1996<br>terry : 10/9/1996<br>terry : 10/30/1995<br>mark : 10/2/1995<br>supermim : 3/16/1992<br>carol : 1/2/1991<br>carol : 12/14/1990<br>carol : 10/26/1990
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 115441
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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|
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CASEIN KINASE II, BETA; CSNK2B
|
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
CASEIN KINASE II, BETA SUBUNIT; CK2B<br />
|
|
PHOSVITIN
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CSNK2B</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 6p21.33
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|
Genomic coordinates <span class="small">(GRCh38)</span> : 6:31,666,080-31,670,067 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
6p21.33
|
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</span>
|
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</td>
|
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|
<td>
|
|
<span class="mim-font">
|
|
Poirier-Bienvenu neurodevelopmental syndrome
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
618732
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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|
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</tr>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>The CSNK2B gene encodes a regulatory subunit of casein kinase II (CK2), a highly conserved ubiquitous enzyme consisting of subunits alpha (CSNK2A1; 115440), alpha-prime (CSNK2A2; 115442), and beta. It is present in high levels in the brain and appears to be constitutively active. Animal models suggest that CK2 may play a role in dopamine signaling (summary by Poirier et al., 2017; Yang et al., 2018). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<span class="mim-text-font">
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<p>CK2 is a ubiquitous serine/threonine kinase, localized in both the cytoplasm and the nucleus. Jakobi et al. (1989) prepared subunit beta from human placenta and determined the amino acid sequence of a protease digestion peptide. The deduced nucleotide sequence was used for the synthesis of a mixture of 20-mers as a hybridization probe to screen a lambda-gt10 HeLa cell cDNA library for clones encoding the beta subunit. The beta subunit presumably serves regulatory functions. Heller-Harrison et al. (1989) found evidence of a single gene. They described a cDNA of 2.57 kb containing 96 bp of 5-prime untranslated sequence, 645 bp of open reading frame, and 1,832 bp of 3-prime untranslated sequence. </p><p>Li et al. (2019) noted that the CSNK2B gene is highly expressed in the developing prefrontal cortex, with lesser expression in childhood and adulthood. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</h4>
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<span class="mim-text-font">
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<p>Voss et al. (1991) analyzed the structure of the gene encoding human casein kinase II subunit beta and Boldyreff and Issinger (1995) determined the structure of the mouse counterpart. The latter is composed of 7 exons contained within 7,874 bp. The lengths of the mouse coding exons correspond exactly to the lengths of the exons in the human CK2B gene. Both genes contain a first untranslated exon. Despite common features, a striking difference concerned the human CK2A subunit binding domain at position -170 to -239 of the human gene. This domain has no counterpart in the mouse gene. </p>
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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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<span class="mim-text-font">
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<p>By hybridization to spot-blotting filters of flow-sorted human chromosomes followed by in situ hybridization, Yang-Feng et al. (1990) mapped the CSNK2B gene to 6p21.1. </p><p>Albertella et al. (1996) characterized the genes in the central 1,100-kb class III region of the major histocompatibility complex. One of the genes found in this region was identified as CSNK2B. This would suggest that CSNK2B is located in the 6p21.3 region rather than the 6p21.1 region. </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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</h4>
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<span class="mim-text-font">
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<p>Sarno et al. (2000) reported that a C-terminally truncated form of CK2-beta lacking residues 170 to 215 could not stably associate with the catalytic CK2 subunits. This CK2-beta mutant retained its central homodimerization domain and still existed as a dimer. However, the mutant was defective in a number of other properties mediated by elements still present in its N-terminal half, notably downregulation of catalytic activity, autophosphorylation, and responsiveness to polycationic effectors. All these functions were restored by simultaneous addition of a synthetic peptide reproducing the CK2-beta deleted region, which was able to associate with the catalytic subunits and to stimulate catalytic activity. This peptide includes a segment that shares similarity with a region of cyclin A (see 604036) involved in activation of CDK2 (116953), and Sarno et al. (2000) found that a peptide reproducing this sequence (residues 181 to 203) interacted with the CK2-alpha subunit and stimulated its catalytic activity. This smaller peptide also partially restored the ability of truncated CK2-beta to autophosphorylate. Sarno et al. (2000) concluded that residues 181 to 203 are essential for the regulatory properties of CK2-beta. </p><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>Rodriguez et al. (2008) stated that, in addition to cytoplasm, nuclei, and other organelles, CK2 localizes to the external side of the cell membrane, where it acts as an ectokinase and phosphorylates extracellular proteins and external domains of proteins. By mutation analysis, they showed that an N-terminal region of Xenopus Ck2-beta containing 2 phenylalanines and an acidic cluster was necessary but not sufficient to allow Ck2-alpha to function as an ectokinase in transfected HEK293 cells. </p><p>In vitro cellular studies by Yang et al. (2018) showed that knockdown of the Csnk2b gene in mouse embryonic neural stem cells increased proliferation, impaired cell differentiation, and reduced the dendritic length and branch points compared to controls. Knockdown of Csnk2b also altered synaptic transmission compared to controls. The authors suggested that variation in the CSNK2B gene may contribute to the risk of schizophrenia (SCZD; see 181500), which is believed to be a disorder related to altered neurodevelopment. </p><p>Excessive erythrocytosis is a major hallmark of chronic mountain sickness (CMS; see 616182), or Monge disease, a clinical syndrome caused by years of exposure to high-altitude hypoxia. Using RNA-sequencing analysis, Azad et al. (2023) identified HIKER (LINC02228; 620525) as a differentially expressed long noncoding RNA in individuals with CMS compared with non-CMS controls under hypoxic conditions. HIKER was upregulated in CMS cells, but not in non-CMS cells. HIKER regulated erythropoiesis in CMS individuals under hypoxia via the downstream factor CSNK2B. Further analysis confirmed that CSNK2B was an erythropoietic regulator in CMS and non-CMS cells under hypoxia and showed that CSNK2B regulated erythropoiesis at high altitude partially through GATA1 (305371). Furthermore, csnk2b knockdown induced severe hemoglobinization defects in zebrafish embryos, confirming an evolutionarily conserved role of CSNK2B in erythropoiesis. </p>
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</span>
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<div>
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</div>
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<div>
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<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 2 unrelated patients with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; 618732), Poirier et al. (2017) identified de novo heterozygous splice site mutations in the CSNK2B gene (115441.0001 and 115441.0002). The mutations, which were found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, were not found in the 1000 Genomes Project and ExAC databases. Analysis of patient cells showed decreased mRNA levels compared to controls, and RT-PCR showed that the mutations resulted in exon skipping and premature termination, consistent with haploinsufficiency and a loss of function. However, the authors noted that the mutations may induce the production of an aberrant truncated protein. Poirier et al. (2017) postulated that the mutations may cause abnormal dopamine signaling. </p><p>In a 21-month-old Japanese boy with POBINDS, Sakaguchi et al. (2017) identified a de novo heterozygous frameshift mutation in the CSNK2B gene (115441.0003). The mutation was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in haploinsufficiency. </p><p>In a 15-year-old Malaysian girl (patient 3) with POBINDS, Nakashima et al. (2019) identified a de novo heterozygous frameshift mutation in the CSNK2B gene (115441.0004). The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was classified as pathogenic according to ACMG guidelines. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed, but was unable to bind with CSNK2A1 (115440), which may induce instability of the CK2 holoenzyme. </p><p>In 9 unrelated patients with POBINDS, Li et al. (2019) identified de novo heterozygous mutations in the CSNK2B gene (see, e.g., 115441.0005-115441.0007). The mutations, which were found by trio-based whole-exome sequencing of a cohort of 816 probands with epilepsy, were confirmed by Sanger sequencing. The mutations occurred throughout the gene and comprised 4 missense variants, 3 frameshifts, and 1 splice site mutation. None of the variants were found in the 1000 Genomes Project or gnomAD databases; all were predicted to be pathogenic (8) or likely pathogenic (1) by ACMG criteria, but only 4 had predictive evidence of 'very strong' pathogenicity. Functional studies of the variants and studies of patient cells were not performed. Five variants occurred in the zinc-binding domain, suggesting a hotspot; all of these patients responded to antiepileptic treatment. However, patients with missense mutations could have a severe phenotype and those with frameshift mutations could have a mild phenotype, precluding establishment of a definitive genotype/phenotype correlation. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Blond et al. (2005) found that complete knockout of the Csnk2b gene in mice was embryonic lethal. Heterozygous knockout mice did not exhibit any abnormalities, although the number of heterozygous offspring was lower than expected, suggesting that some heterozygous mice do not survive. </p><p>Huillard et al. (2010) found that mice with Ck2b deletion in neural stem/progenitor cells (NSCs) of developing brain were born at the expected mendelian ratio, but they did not feed and died shortly after birth. Loss of Ck2b in embryonic NSCs compromised forebrain NSC proliferation and impaired NSC differentiation to develop oligodendrocyte precursor cells (OPCs), resulting in defects in telencephalon development in brain. In vitro analyses identified Olig2 (606386), a critical modulator of OPC development, as a Ck2b-dependent substrate. Ck2b interacted directly with the bHLH domain of Olig2, and Ck2 phosphorylated Olig2 on its serine/threonine-rich (STR) domain. The phosphorylated STR domain was involved in the oligodendroglial function of Olig2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>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">
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<strong>.0001 POIRIER-BIENVENU 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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CSNK2B, IVS5DS, T-C, +2
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<br />
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SNP: rs1583610610,
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ClinVar: RCV001003349
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 10-year-old boy (patient 1) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; 618732), Poirier et al. (2017) identified a de novo heterozygous T-to-C transition (c.367+2T-C, NM_001320.5) affecting a splice site in intron 5 of the CSNK2B gene. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project or ExAC database. Analysis of patient cells showed decreased mRNA levels compared to controls, and RT-PCR showed that the mutation resulted in the skipping of exon 5 and premature termination (Leu98AlafsTer11), consistent with haploinsufficiency and a loss of function. However, the authors noted that the mutation may induce the production of an aberrant truncated protein. </p><p>Li et al. (2019) noted that this mutation affects the zinc-binding domain and that the patient reported by Poirier et al. (2017) did not have seizures. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 POIRIER-BIENVENU 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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CSNK2B, IVS3DS, T-G, +2
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<br />
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SNP: rs1583605716,
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ClinVar: RCV000993565, RCV004818102
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 19-year-old man (patient 2) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; 618732), Poirier et al. (2017) identified a de novo heterozygous T-to-G transversion (c.175+2T-G, NM_001320.5) affecting a splice site in intron 3 of the CSNK2B gene. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project or ExAC databases. Analysis of patient cells showed decreased mRNA levels compared to controls, and RT-PCR showed that the mutation resulted in the skipping of exon 3 and caused premature termination (Val25MetfsTer13), consistent with haploinsufficiency and a loss of function. However, the authors noted that the mutation may induce the production of an aberrant truncated protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 POIRIER-BIENVENU 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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CSNK2B, 1-BP DUP, NT108
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<br />
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SNP: rs1131692161,
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ClinVar: RCV000495848, RCV000993566
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 21-month-old Japanese boy with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; 618732), Sakaguchi et al. (2017) identified a de novo heterozygous 1-bp duplication (c.108dup, NM_001320.6) in exon 3 of the CSNK2B gene, predicted to result in a frameshift and premature termination (Thr37Tyrfs). The mutation was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing. 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">
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<strong>.0004 POIRIER-BIENVENU 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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CSNK2B, 2-BP INS, 533GT
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<br />
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SNP: rs1583611843,
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ClinVar: RCV000993567
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 15-year-old Malaysian girl (patient 3) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; 618732), Nakashima et al. (2019) identified a de novo heterozygous 2-bp insertion (c.533_534insGT, NM_001320.5) in the CSNK2B gene, resulting in a frameshift and premature termination (Pro179TyrfsTer49). The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was classified as pathogenic according to ACMG guidelines. Transfection of the mutation into HEK293 cells showed that the mutant protein was expressed, but was unable to bind with CSNK2A1 (115440), which may induce instability of the CK2 holoenzyme. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 POIRIER-BIENVENU 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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CSNK2B, 1-BP INS, 620C
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<br />
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SNP: rs1583613268,
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ClinVar: RCV000993568
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 3-year-old Chinese girl (P2) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; 618732), Li et al. (2019) identified a de novo heterozygous 1-bp insertion (c.620_621insC, NM_001320) in exon 7 of the CSNK2B gene, predicted to result in a frameshift and premature termination (Phe207PhefsTer39). The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in several public databases, including gnomAD. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in haploinsufficiency and was classified as strongly pathogenic according to ACMG guidelines. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</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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CSNK2B, 1-BP DEL, 264C
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<br />
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SNP: rs1583608557,
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ClinVar: RCV000993569
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>This variant, formerly designated POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME, has been reclassified because the numbering of the variant in the article by Li et al. (2019) does not correspond with the cited reference sequence. </p><p>In a 2-year-old Chinese boy (P5) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; 618732), Li et al. (2019) identified a de novo heterozygous 1-bp deletion (c.264delC, NM_001320) in exon 4 of the CSNK2B gene, predicted to result in a frameshift and premature termination (Ile88IlefsTer46). The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in several public databases, including gnomAD. Functional studies of the variant and studies of patient cells were not performed, but the variant was predicted to result in haploinsufficiency and was classified as strongly pathogenic according to ACMG guidelines. </p>
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<strong>.0007 POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME</strong>
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CSNK2B, IVS5AS, A-G, -2
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SNP: rs1583611290,
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ClinVar: RCV000993570
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<p>In a 6-month-old Chinese girl (P9) with Poirier-Bienvenu neurodevelopmental syndrome (POBINDS; 618732), Li et al. (2019) identified a de novo heterozygous A-to-G transition in intron 5 of the CSNK2B gene (c.368-2A-G), predicted to result in a splice site alteration. The mutation, which was found by trio-based whole-exome sequencing and confirmed by Sanger sequencing, was not found in several public databases, including gnomAD. Functional studies of the variant and studies of patient cells were not performed, but it was predicted to result in haploinsufficiency and was classified as strongly pathogenic according to ACMG guidelines. The mutation affected the zinc-binding domain, and the patient had controlled seizures and mildly impaired development. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Yang, C.-P., Li, X., Wu, Y., Shen, Q., Zeng, Y., Xiong, Q., Wei, M., Chen, C., Liu, J., Huo, Y., Li, K., Xue, G., Yao, Y.-G., Zhang, C., Li, M., Chen, Y., Luo, X.-J.
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Bao Lige - updated : 09/26/2023<br>Bao Lige - updated : 03/06/2020<br>Cassandra L. Kniffin - updated : 01/13/2020<br>Matthew B. Gross - updated : 06/11/2008<br>Patricia A. Hartz - updated : 6/6/2008<br>Ada Hamosh - updated : 10/23/2002<br>Stylianos E. Antonarakis - updated : 3/12/2001
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Victor A. McKusick : 11/22/1989
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alopez : 02/14/2024<br>mgross : 09/26/2023<br>carol : 01/04/2022<br>carol : 03/03/2021<br>carol : 03/18/2020<br>mgross : 03/06/2020<br>mgross : 03/06/2020<br>carol : 01/15/2020<br>ckniffin : 01/13/2020<br>mgross : 06/11/2008<br>terry : 6/6/2008<br>mgross : 9/18/2003<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>mark : 1/19/1998<br>mark : 10/9/1996<br>terry : 10/9/1996<br>terry : 10/30/1995<br>mark : 10/2/1995<br>supermim : 3/16/1992<br>carol : 1/2/1991<br>carol : 12/14/1990<br>carol : 10/26/1990
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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