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Entry
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- *601279 - DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6
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- OMIM
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<p>
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<span class="h4">*601279</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#evolution">Evolution</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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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<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 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=ENSG00000183628;t=ENST00000331444" 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=8214" 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=601279" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000183628;t=ENST00000331444" 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_005675,XM_047441509,XM_047441510" 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_005675" 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=601279" 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=03177&isoform_id=03177_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/DGCR6" 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/15208654,22002047,47678399,49457262,119623480,119623481,119623482,119623483,189054750,608785247,608785549,608785612,608785632,608785660,608785700,1564996727,2217340201,2217340203,2462585539,2462585541" 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/Q14129" 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=8214" 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=ENSG00000183628;t=ENST00000331444" 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=DGCR6" 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=DGCR6" 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+8214" 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/DGCR6" 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:8214" 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/8214" 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=chr22&hgg_gene=ENST00000331444.12&hgg_start=18906223&hgg_end=18912088&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601279[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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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601279[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000183628" 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=DGCR6" 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=DGCR6" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DGCR6&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/PA27308" 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 style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/gene/HGNC:2846" 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/FBgn0001099.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:1202877" 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/DGCR6#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:1202877" 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/8214/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=8214" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040912-125" 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><a href="https://reactome.org/content/query?q=DGCR6&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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<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 class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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601279
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DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6
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</h3>
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<br />
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DGCR6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DGCR6</a></em></strong>
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/22/31?start=-3&limit=10&highlight=31">22q11.21</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr22:18906223-18912088&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'})">22:18,906,223-18,912,088</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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<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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<strong>Cloning and Expression</strong>
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<p><a href="#1" class="mim-tip-reference" title="Demczuk, S., Thomas, G., Aurias, A. <strong>Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.</strong> Hum. Molec. Genet. 5: 633-638, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733130</a>] [<a href="https://doi.org/10.1093/hmg/5.5.633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733130">Demczuk et al. (1996)</a> described the cloning of a gene, which they referred to as DGCR6, from the DiGeorge syndrome critical region (<a href="/entry/188400">188400</a>) on chromosome 22q11. This gene detects a 1.1-kb transcript in many human tissues. The putative protein encoded by this gene shows homology with Drosophila melanogaster gonadal protein (gdl) and with the gamma-1 chain of human laminin (150290), which maps to chromosome 1q31. Although the DGCR6 gene was not interrupted by the translocation breakpoint in a family with a balanced translocation and DiGeorge phenotype, and although no rearrangements had been elucidated in DGS patients who do not bear a large deletion of the DiGeorge critical region, <a href="#1" class="mim-tip-reference" title="Demczuk, S., Thomas, G., Aurias, A. <strong>Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.</strong> Hum. Molec. Genet. 5: 633-638, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733130</a>] [<a href="https://doi.org/10.1093/hmg/5.5.633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733130">Demczuk et al. (1996)</a> noted that the DGCR6 gene could still be a candidate gene involved in the pathology of the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By examining the flanking regions of a low-copy repeat on chromosome 22 deleted in most people with velocardiofacial syndrome (<a href="/entry/192430">192430</a>)/DiGeorge syndrome, <a href="#2" class="mim-tip-reference" title="Edelmann, L., Stankiewicz, P., Spiteri, E., Pandita, R. K., Shaffer, L., Lupski, J. R., Morrow, B. E. <strong>Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.</strong> Genome Res. 11: 208-217, 2001. Note: Erratum: Genome Res. 11: 503 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11157784[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/10.1101/gr.gr-1431r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11157784">Edelmann et al. (2001)</a> identified DGCR6L (<a href="/entry/609459">609459</a>), a copy of the DGCR6 gene. They cloned DGCR6 and DGCR6L by PCR of a fetal spleen cDNA library. The 2 cDNAs share 97% identity, and both deduced 220-amino acid proteins share 97% identity. There are 7 amino acid differences between them, 2 of which are conservative changes. PCR analysis using transcript-specific primers revealed DGCR6 expression in all adult and fetal tissues examined, whereas DGCR6L was expressed in all tissues tested except adult skeletal muscle and small intestine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Pfuhl, T., Durr, M., Spurk, A., Schwalbert, B., Nord, R., Mysliwietz, J., Kremmer, E., Grasser, F. A. <strong>Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.</strong> Hum. Genet. 117: 70-80, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15821931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15821931</a>] [<a href="https://doi.org/10.1007/s00439-005-1267-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15821931">Pfuhl et al. (2005)</a> cloned DGCR6 and DGCR6L from a brain cDNA library. Western blot analysis detected the endogenous proteins as a double band of about 25 kD in a human mammary carcinoma cell line and in all human tissues examined except heart, which had only 1 band. Protein levels were highest in liver, heart, and skeletal muscle, intermediate in pancreas and placenta, and low in brain. Western blot analysis showed that most human tumor cell lines tested expressed elevated levels of 1 or both proteins. Immunofluorescence localization of epitope-tagged proteins detected both predominantly in the nuclei of transfected cells, with low cytoplasmic reactivity. There was a weak nuclear signal in nontransfected HeLa cells. Immunoprecipitation of radiolabeled proteins expressed by transfected HeLa cells indicated that both proteins were phosphorylated, and both had half-lives of about 2.5 hours. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15821931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Edelmann, L., Stankiewicz, P., Spiteri, E., Pandita, R. K., Shaffer, L., Lupski, J. R., Morrow, B. E. <strong>Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.</strong> Genome Res. 11: 208-217, 2001. Note: Erratum: Genome Res. 11: 503 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11157784[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/10.1101/gr.gr-1431r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11157784">Edelmann et al. (2001)</a> determined that both DGCR6 and DGCR6L contain 5 exons of equal length, with conserved intron/exon structure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157784" 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="#1" class="mim-tip-reference" title="Demczuk, S., Thomas, G., Aurias, A. <strong>Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.</strong> Hum. Molec. Genet. 5: 633-638, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733130</a>] [<a href="https://doi.org/10.1093/hmg/5.5.633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733130">Demczuk et al. (1996)</a> mapped the DGCR6 gene to chromosome 22q11. By sequencing genomic clones, <a href="#2" class="mim-tip-reference" title="Edelmann, L., Stankiewicz, P., Spiteri, E., Pandita, R. K., Shaffer, L., Lupski, J. R., Morrow, B. E. <strong>Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.</strong> Genome Res. 11: 208-217, 2001. Note: Erratum: Genome Res. 11: 503 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11157784[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/10.1101/gr.gr-1431r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11157784">Edelmann et al. (2001)</a> mapped the DGCR6 gene to a low-copy repeat region of chromosome 22q11 that also contains the DGCR6L gene. The 2 genes are in an inverted orientation with respect to one another. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8733130+11157784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Edelmann, L., Stankiewicz, P., Spiteri, E., Pandita, R. K., Shaffer, L., Lupski, J. R., Morrow, B. E. <strong>Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.</strong> Genome Res. 11: 208-217, 2001. Note: Erratum: Genome Res. 11: 503 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11157784[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/10.1101/gr.gr-1431r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11157784">Edelmann et al. (2001)</a> performed evolutionary studies using FISH in several different species of ape combined with sequence analysis of DGCR6 in a number of different primate species. They determined that the duplication of the DGCR6 gene is at least 12 million years old and may date to before the divergence of Catarrhines from Platyrrhines, 35 million years ago. A full-length HERV-K provirus integrated into the low-copy repeat region containing DGCR6, but not to the region containing DGCR6L, after the divergence of chimpanzees and humans. <a href="#2" class="mim-tip-reference" title="Edelmann, L., Stankiewicz, P., Spiteri, E., Pandita, R. K., Shaffer, L., Lupski, J. R., Morrow, B. E. <strong>Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.</strong> Genome Res. 11: 208-217, 2001. Note: Erratum: Genome Res. 11: 503 only, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11157784[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/10.1101/gr.gr-1431r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11157784">Edelmann et al. (2001)</a> concluded that there has been selective evolutionary pressure toward the functional maintenance of both paralogs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11157784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Demczuk1996" class="mim-anchor"></a>
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Demczuk, S., Thomas, G., Aurias, A.
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<strong>Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.</strong>
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Hum. Molec. Genet. 5: 633-638, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.5.633" target="_blank">Full Text</a>]
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Edelmann, L., Stankiewicz, P., Spiteri, E., Pandita, R. K., Shaffer, L., Lupski, J. R., Morrow, B. E.
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<strong>Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.</strong>
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Genome Res. 11: 208-217, 2001. Note: Erratum: Genome Res. 11: 503 only, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11157784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11157784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11157784[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=11157784" 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/10.1101/gr.gr-1431r" target="_blank">Full Text</a>]
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Pfuhl, T., Durr, M., Spurk, A., Schwalbert, B., Nord, R., Mysliwietz, J., Kremmer, E., Grasser, F. A.
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<strong>Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.</strong>
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Hum. Genet. 117: 70-80, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15821931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15821931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15821931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-005-1267-2" target="_blank">Full Text</a>]
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Patricia A. Hartz - updated : 07/01/2005
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Moyra Smith : 5/25/1996
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alopez : 10/22/2004<br>joanna : 7/11/2000<br>carol : 5/25/1996
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DIGEORGE SYNDROME CRITICAL REGION GENE 6; DGCR6
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<p>Demczuk et al. (1996) described the cloning of a gene, which they referred to as DGCR6, from the DiGeorge syndrome critical region (188400) on chromosome 22q11. This gene detects a 1.1-kb transcript in many human tissues. The putative protein encoded by this gene shows homology with Drosophila melanogaster gonadal protein (gdl) and with the gamma-1 chain of human laminin (150290), which maps to chromosome 1q31. Although the DGCR6 gene was not interrupted by the translocation breakpoint in a family with a balanced translocation and DiGeorge phenotype, and although no rearrangements had been elucidated in DGS patients who do not bear a large deletion of the DiGeorge critical region, Demczuk et al. (1996) noted that the DGCR6 gene could still be a candidate gene involved in the pathology of the syndrome. </p><p>By examining the flanking regions of a low-copy repeat on chromosome 22 deleted in most people with velocardiofacial syndrome (192430)/DiGeorge syndrome, Edelmann et al. (2001) identified DGCR6L (609459), a copy of the DGCR6 gene. They cloned DGCR6 and DGCR6L by PCR of a fetal spleen cDNA library. The 2 cDNAs share 97% identity, and both deduced 220-amino acid proteins share 97% identity. There are 7 amino acid differences between them, 2 of which are conservative changes. PCR analysis using transcript-specific primers revealed DGCR6 expression in all adult and fetal tissues examined, whereas DGCR6L was expressed in all tissues tested except adult skeletal muscle and small intestine. </p><p>Pfuhl et al. (2005) cloned DGCR6 and DGCR6L from a brain cDNA library. Western blot analysis detected the endogenous proteins as a double band of about 25 kD in a human mammary carcinoma cell line and in all human tissues examined except heart, which had only 1 band. Protein levels were highest in liver, heart, and skeletal muscle, intermediate in pancreas and placenta, and low in brain. Western blot analysis showed that most human tumor cell lines tested expressed elevated levels of 1 or both proteins. Immunofluorescence localization of epitope-tagged proteins detected both predominantly in the nuclei of transfected cells, with low cytoplasmic reactivity. There was a weak nuclear signal in nontransfected HeLa cells. Immunoprecipitation of radiolabeled proteins expressed by transfected HeLa cells indicated that both proteins were phosphorylated, and both had half-lives of about 2.5 hours. </p>
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<p>Edelmann et al. (2001) determined that both DGCR6 and DGCR6L contain 5 exons of equal length, with conserved intron/exon structure. </p>
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<p>Demczuk et al. (1996) mapped the DGCR6 gene to chromosome 22q11. By sequencing genomic clones, Edelmann et al. (2001) mapped the DGCR6 gene to a low-copy repeat region of chromosome 22q11 that also contains the DGCR6L gene. The 2 genes are in an inverted orientation with respect to one another. </p>
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<strong>Evolution</strong>
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<p>Edelmann et al. (2001) performed evolutionary studies using FISH in several different species of ape combined with sequence analysis of DGCR6 in a number of different primate species. They determined that the duplication of the DGCR6 gene is at least 12 million years old and may date to before the divergence of Catarrhines from Platyrrhines, 35 million years ago. A full-length HERV-K provirus integrated into the low-copy repeat region containing DGCR6, but not to the region containing DGCR6L, after the divergence of chimpanzees and humans. Edelmann et al. (2001) concluded that there has been selective evolutionary pressure toward the functional maintenance of both paralogs. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p />
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<ol>
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Demczuk, S., Thomas, G., Aurias, A.
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<strong>Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes.</strong>
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Hum. Molec. Genet. 5: 633-638, 1996.
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[PubMed: 8733130]
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[Full Text: https://doi.org/10.1093/hmg/5.5.633]
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</li>
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<li>
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<p class="mim-text-font">
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Edelmann, L., Stankiewicz, P., Spiteri, E., Pandita, R. K., Shaffer, L., Lupski, J. R., Morrow, B. E.
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<strong>Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.</strong>
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Genome Res. 11: 208-217, 2001. Note: Erratum: Genome Res. 11: 503 only, 2001.
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[PubMed: 11157784]
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[Full Text: https://doi.org/10.1101/gr.gr-1431r]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Pfuhl, T., Durr, M., Spurk, A., Schwalbert, B., Nord, R., Mysliwietz, J., Kremmer, E., Grasser, F. A.
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<strong>Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.</strong>
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Hum. Genet. 117: 70-80, 2005.
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[PubMed: 15821931]
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[Full Text: https://doi.org/10.1007/s00439-005-1267-2]
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 07/01/2005
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Moyra Smith : 5/25/1996
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 07/01/2005<br>alopez : 10/22/2004<br>joanna : 7/11/2000<br>carol : 5/25/1996
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