2391 lines
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Entry
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- *604612 - NK2 HOMEOBOX 2; NKX2-2
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- OMIM
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<p>
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<span class="h4">*604612</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFamily">Gene Family</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#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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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000125820;t=ENST00000377142" 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=4821" 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=604612" 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=ENSG00000125820;t=ENST00000377142" 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_001424411,NM_001424412,NM_002509,XM_047440152" 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_002509" 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=604612" 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=05213&isoform_id=05213_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/NKX2-2" 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/3955195,4505401,6016205,10441263,49902428,49902617,119630588,2217335180,2462580396,2580854163,2580854165" 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/O95096" 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=4821" 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=ENSG00000125820;t=ENST00000377142" 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=NKX2-2" 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=NKX2-2" 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+4821" 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/NKX2-2" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4821" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr20&hgg_gene=ENST00000377142.5&hgg_start=21511017&hgg_end=21522689&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=604612[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 class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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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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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604612[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/ENSG00000125820" 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.gwascentral.org/search?q=NKX2-2" 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=NKX2-2&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/PA31642" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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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</a>
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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:7835" 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/FBgn0261930.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:97347" 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/NKX2-2#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:97347" 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/4821/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=4821" 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=WBGene00000445;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-050217-3" 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 class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="small">
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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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</a>
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4821" 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=NKX2-2&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>
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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 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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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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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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604612
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</span>
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</span>
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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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NK2 HOMEOBOX 2; NKX2-2
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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</p>
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<div>
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<h4>
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<span class="mim-font">
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NK2, DROSOPHILA, HOMOLOG OF, B; NKX2B<br />
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NKX2.2, MOUSE, HOMOLOG OF
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</h4>
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</div>
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<div>
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<br />
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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=NKX2-2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">NKX2-2</a></em></strong>
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</span>
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</p>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/20/140?start=-3&limit=10&highlight=140">20p11.22</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:21511017-21522689&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">20:21,511,017-21,522,689</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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<br />
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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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</h4>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>The morphogenesis of the central nervous system is thought to be established by an integrated network of regulatory factors. Vertebrate homologs of Drosophila segmentation and homeotic (Hox) genes are among the numerous regulatory genes expressed at high levels in the central nervous system. Homeobox-containing genes are a large family of transcription factors that are distinguished by a 60-amino acid evolutionarily conserved DNA-binding homeodomain. See <a href="/entry/142950">142950</a> for additional background information on homeobox genes.</p><p>By screening a cosmid DNA library at low stringency with a probe from the homeobox-containing TTF1 (<a href="/entry/600635">600635</a>), <a href="#5" class="mim-tip-reference" title="Price, M., Lazzaro, D., Pohl, T., Mattei, M. G., Ruther, U., Olivo, J. C., Duboule, D., Di Lauro, R. <strong>Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain.</strong> Neuron 8: 241-255, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346742</a>] [<a href="https://doi.org/10.1016/0896-6273(92)90291-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1346742">Price et al. (1992)</a> obtained a partial mouse cDNA for Nkx2.2. By RNAase mapping experiments, they found that Nkx2.2 transcripts are in localized domains of the brain during mouse embryogenesis. <a href="#3" class="mim-tip-reference" title="Hartigan, D. J., Rubenstein, J. L. <strong>The cDNA sequence of murine Nkx-2.2.</strong> Gene 168: 271-272, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8654958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8654958</a>] [<a href="https://doi.org/10.1016/0378-1119(95)00745-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8654958">Hartigan and Rubenstein (1996)</a> isolated a complete cDNA clone for Nkx2.2 which encodes a 273-amino acid protein. By immunofluorescence experiments, <a href="#6" class="mim-tip-reference" title="Sussel, L., Kalamaras, J., Hartigan-O'Connor, D. J., Meneses, J. J., Pedersen, R. A., Rubenstein, J. L., German, M. S. <strong>Mice lacking the homeodomain transcription factor Nkx2.2 have diabetes due to arrested differentiation of pancreatic beta cells.</strong> Development 125: 2213-2221, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9584121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9584121</a>] [<a href="https://doi.org/10.1242/dev.125.12.2213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9584121">Sussel et al. (1998)</a> determined that, within the pancreas, Nkx2.2 is expressed in insulin-producing beta cells, glucagon-producing alpha cells, and pancreatic polypeptide (PP)-secreting cells of the islet, but not in somatostatin-producing delta cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1346742+9584121+8654958" 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 screening pools of PAC DNA with PCR primers for mouse Nkx2.2, <a href="#2" class="mim-tip-reference" title="Furuta, H., Horikawa, Y., Iwasaki, N., Hara, M., Sussel, L., Le Beau, M. M., Davis, E. M., Ogata, M., Iwamoto, Y., German, M. S., Bell, G. I. <strong>Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese.</strong> Diabetes 47: 1356-1358, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9703340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9703340</a>] [<a href="https://doi.org/10.2337/diab.47.8.1356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9703340">Furuta et al. (1998)</a> isolated a human NKX2B cDNA, which encodes a protein that shows 98% sequence identity to mouse Nkx2.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9703340" 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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<br />
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<a id="geneFamily" class="mim-anchor"></a>
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<h4 href="#mimGeneFamilyFold" id="mimGeneFamilyToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneFamilyToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Family</strong>
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</h4>
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<p><a href="#4" class="mim-tip-reference" title="Holland, P. W. H., Booth, H. A. F., Bruford, E. A. <strong>Classification and nomenclature of all human homeobox genes.</strong> BMC Biol. 5: 47, 2007. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17963489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17963489</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17963489[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/10.1186/1741-7007-5-47" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17963489">Holland et al. (2007)</a> stated that the NKX2-2 and NKX2-8 (<a href="/entry/603245">603245</a>) genes are collectively orthologous to Drosophila vnd and comprise the Nk2.2 gene family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17963489" 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="Furuta, H., Horikawa, Y., Iwasaki, N., Hara, M., Sussel, L., Le Beau, M. M., Davis, E. M., Ogata, M., Iwamoto, Y., German, M. S., Bell, G. I. <strong>Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese.</strong> Diabetes 47: 1356-1358, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9703340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9703340</a>] [<a href="https://doi.org/10.2337/diab.47.8.1356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9703340">Furuta et al. (1998)</a> determined that the NKX2B gene contains 2 exons that span approximately 2.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9703340" 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 FISH, <a href="#2" class="mim-tip-reference" title="Furuta, H., Horikawa, Y., Iwasaki, N., Hara, M., Sussel, L., Le Beau, M. M., Davis, E. M., Ogata, M., Iwamoto, Y., German, M. S., Bell, G. I. <strong>Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese.</strong> Diabetes 47: 1356-1358, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9703340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9703340</a>] [<a href="https://doi.org/10.2337/diab.47.8.1356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9703340">Furuta et al. (1998)</a> mapped the NKX2B gene to chromosome 20p11. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9703340" 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="Wang, C.-C., Brodnicki, T., Copeland, N. G., Jenkins, N. A., Harvey, R. P. <strong>Conserved linkage of NK-2 homeobox gene pairs Nkx2-2/2-4 and Nkx2-1/2-9 in mammals.</strong> Mammalian Genome 11: 466-468, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10818213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10818213</a>] [<a href="https://doi.org/10.1007/s003350010089" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10818213">Wang et al. (2000)</a> stated that linkage of the Nkx2.1 and Nkx2.9 genes on mouse chromosome 12 and of the Nkx2.4 (NKX2D; <a href="/entry/607808">607808</a>) and Nkx2.2 genes on mouse chromosome 2 suggests that these gene pairs represent paralogous clusters, as initially defined for duplicated Hox gene clusters in vertebrates. Each Nkx2 protein is more related to its duplicated partner on another chromosome than to its linked partner. This supports a model in which an ancient gene was duplicated to form a tandem gene pair, which was then duplicated to another chromosomal locus at a later time, forming a paralogous pair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10818213" 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="Ding, Y.-Q., Marklund, U., Yuan, W., Yin, J., Wegman, L., Ericson, J., Deneris, E., Johnson, R. L., Chen, Z.-F. <strong>Lmx1b is essential for the development of serotonergic neurons.</strong> Nature Neurosci. 6: 933-938, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897786</a>] [<a href="https://doi.org/10.1038/nn1104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12897786">Ding et al. (2003)</a> presented evidence suggesting that Nkx2.2 acts downstream of Shh (<a href="/entry/600725">600725</a>) and upstream of Lmx1b (<a href="/entry/602575">602575</a>) in a signaling cascade to direct the development, specification, and/or differentiation of 5-HT (5-hydroxytryptamine) neurons in the central nervous system in mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12897786" 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="Furuta, H., Horikawa, Y., Iwasaki, N., Hara, M., Sussel, L., Le Beau, M. M., Davis, E. M., Ogata, M., Iwamoto, Y., German, M. S., Bell, G. I. <strong>Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese.</strong> Diabetes 47: 1356-1358, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9703340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9703340</a>] [<a href="https://doi.org/10.2337/diab.47.8.1356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9703340">Furuta et al. (1998)</a> found no association between NKX2B mutations and maturity-onset diabetes of the young in 57 unrelated Japanese subjects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9703340" 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>Mice homozygous for a targeted disruption in the Nkx2.2 gene die within a few days of birth with severe hyperglycemia (<a href="#6" class="mim-tip-reference" title="Sussel, L., Kalamaras, J., Hartigan-O'Connor, D. J., Meneses, J. J., Pedersen, R. A., Rubenstein, J. L., German, M. S. <strong>Mice lacking the homeodomain transcription factor Nkx2.2 have diabetes due to arrested differentiation of pancreatic beta cells.</strong> Development 125: 2213-2221, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9584121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9584121</a>] [<a href="https://doi.org/10.1242/dev.125.12.2213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9584121">Sussel et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9584121" 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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Ding, Y.-Q., Marklund, U., Yuan, W., Yin, J., Wegman, L., Ericson, J., Deneris, E., Johnson, R. L., Chen, Z.-F.
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<strong>Lmx1b is essential for the development of serotonergic neurons.</strong>
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Nature Neurosci. 6: 933-938, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12897786/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12897786</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12897786" 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/nn1104" target="_blank">Full Text</a>]
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Furuta, H., Horikawa, Y., Iwasaki, N., Hara, M., Sussel, L., Le Beau, M. M., Davis, E. M., Ogata, M., Iwamoto, Y., German, M. S., Bell, G. I.
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<strong>Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese.</strong>
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Diabetes 47: 1356-1358, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9703340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9703340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9703340" 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/10.2337/diab.47.8.1356" target="_blank">Full Text</a>]
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Hartigan, D. J., Rubenstein, J. L.
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<strong>The cDNA sequence of murine Nkx-2.2.</strong>
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Gene 168: 271-272, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8654958/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8654958</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8654958" 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/10.1016/0378-1119(95)00745-8" target="_blank">Full Text</a>]
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Holland, P. W. H., Booth, H. A. F., Bruford, E. A.
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<strong>Classification and nomenclature of all human homeobox genes.</strong>
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BMC Biol. 5: 47, 2007. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17963489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17963489</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17963489[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=17963489" 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/10.1186/1741-7007-5-47" target="_blank">Full Text</a>]
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<a id="Price1992" class="mim-anchor"></a>
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Price, M., Lazzaro, D., Pohl, T., Mattei, M. G., Ruther, U., Olivo, J. C., Duboule, D., Di Lauro, R.
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<strong>Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain.</strong>
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Neuron 8: 241-255, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1346742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1346742</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1346742" 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/10.1016/0896-6273(92)90291-k" target="_blank">Full Text</a>]
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<a id="Sussel1998" class="mim-anchor"></a>
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Sussel, L., Kalamaras, J., Hartigan-O'Connor, D. J., Meneses, J. J., Pedersen, R. A., Rubenstein, J. L., German, M. S.
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<strong>Mice lacking the homeodomain transcription factor Nkx2.2 have diabetes due to arrested differentiation of pancreatic beta cells.</strong>
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Development 125: 2213-2221, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9584121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9584121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9584121" 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/10.1242/dev.125.12.2213" target="_blank">Full Text</a>]
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Wang, C.-C., Brodnicki, T., Copeland, N. G., Jenkins, N. A., Harvey, R. P.
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<strong>Conserved linkage of NK-2 homeobox gene pairs Nkx2-2/2-4 and Nkx2-1/2-9 in mammals.</strong>
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Mammalian Genome 11: 466-468, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10818213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10818213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10818213" 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/s003350010089" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 02/07/2008
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 8/15/2003<br>Victor A. McKusick - updated : 8/21/2000
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Paul J. Converse : 2/25/2000
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carol : 02/07/2008
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terry : 3/18/2004<br>alopez : 9/2/2003<br>carol : 8/18/2003<br>ckniffin : 8/15/2003<br>mgross : 5/20/2003<br>mcapotos : 9/8/2000<br>mcapotos : 9/6/2000<br>terry : 8/21/2000<br>terry : 8/21/2000<br>carol : 2/28/2000<br>carol : 2/28/2000
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<strong>*</strong> 604612
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NK2 HOMEOBOX 2; NKX2-2
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<em>Alternative titles; symbols</em>
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NK2, DROSOPHILA, HOMOLOG OF, B; NKX2B<br />
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NKX2.2, MOUSE, HOMOLOG OF
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<strong><em>HGNC Approved Gene Symbol: NKX2-2</em></strong>
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Cytogenetic location: 20p11.22
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Genomic coordinates <span class="small">(GRCh38)</span> : 20:21,511,017-21,522,689 </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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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>The morphogenesis of the central nervous system is thought to be established by an integrated network of regulatory factors. Vertebrate homologs of Drosophila segmentation and homeotic (Hox) genes are among the numerous regulatory genes expressed at high levels in the central nervous system. Homeobox-containing genes are a large family of transcription factors that are distinguished by a 60-amino acid evolutionarily conserved DNA-binding homeodomain. See 142950 for additional background information on homeobox genes.</p><p>By screening a cosmid DNA library at low stringency with a probe from the homeobox-containing TTF1 (600635), Price et al. (1992) obtained a partial mouse cDNA for Nkx2.2. By RNAase mapping experiments, they found that Nkx2.2 transcripts are in localized domains of the brain during mouse embryogenesis. Hartigan and Rubenstein (1996) isolated a complete cDNA clone for Nkx2.2 which encodes a 273-amino acid protein. By immunofluorescence experiments, Sussel et al. (1998) determined that, within the pancreas, Nkx2.2 is expressed in insulin-producing beta cells, glucagon-producing alpha cells, and pancreatic polypeptide (PP)-secreting cells of the islet, but not in somatostatin-producing delta cells. </p><p>By screening pools of PAC DNA with PCR primers for mouse Nkx2.2, Furuta et al. (1998) isolated a human NKX2B cDNA, which encodes a protein that shows 98% sequence identity to mouse Nkx2.2. </p>
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<strong>Gene Family</strong>
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<p>Holland et al. (2007) stated that the NKX2-2 and NKX2-8 (603245) genes are collectively orthologous to Drosophila vnd and comprise the Nk2.2 gene family. </p>
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<strong>Gene Structure</strong>
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<p>Furuta et al. (1998) determined that the NKX2B gene contains 2 exons that span approximately 2.5 kb. </p>
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<strong>Mapping</strong>
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<p>By FISH, Furuta et al. (1998) mapped the NKX2B gene to chromosome 20p11. </p><p>Wang et al. (2000) stated that linkage of the Nkx2.1 and Nkx2.9 genes on mouse chromosome 12 and of the Nkx2.4 (NKX2D; 607808) and Nkx2.2 genes on mouse chromosome 2 suggests that these gene pairs represent paralogous clusters, as initially defined for duplicated Hox gene clusters in vertebrates. Each Nkx2 protein is more related to its duplicated partner on another chromosome than to its linked partner. This supports a model in which an ancient gene was duplicated to form a tandem gene pair, which was then duplicated to another chromosomal locus at a later time, forming a paralogous pair. </p>
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<strong>Gene Function</strong>
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<p>Ding et al. (2003) presented evidence suggesting that Nkx2.2 acts downstream of Shh (600725) and upstream of Lmx1b (602575) in a signaling cascade to direct the development, specification, and/or differentiation of 5-HT (5-hydroxytryptamine) neurons in the central nervous system in mice. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Furuta et al. (1998) found no association between NKX2B mutations and maturity-onset diabetes of the young in 57 unrelated Japanese subjects. </p>
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>Mice homozygous for a targeted disruption in the Nkx2.2 gene die within a few days of birth with severe hyperglycemia (Sussel et al., 1998). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<p class="mim-text-font">
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Ding, Y.-Q., Marklund, U., Yuan, W., Yin, J., Wegman, L., Ericson, J., Deneris, E., Johnson, R. L., Chen, Z.-F.
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<strong>Lmx1b is essential for the development of serotonergic neurons.</strong>
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Nature Neurosci. 6: 933-938, 2003.
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[PubMed: 12897786]
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[Full Text: https://doi.org/10.1038/nn1104]
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Furuta, H., Horikawa, Y., Iwasaki, N., Hara, M., Sussel, L., Le Beau, M. M., Davis, E. M., Ogata, M., Iwamoto, Y., German, M. S., Bell, G. I.
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<strong>Beta-cell transcription factors and diabetes: mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese.</strong>
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Diabetes 47: 1356-1358, 1998.
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[PubMed: 9703340]
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[Full Text: https://doi.org/10.2337/diab.47.8.1356]
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<p class="mim-text-font">
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Hartigan, D. J., Rubenstein, J. L.
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<strong>The cDNA sequence of murine Nkx-2.2.</strong>
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Gene 168: 271-272, 1996.
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[PubMed: 8654958]
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[Full Text: https://doi.org/10.1016/0378-1119(95)00745-8]
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<p class="mim-text-font">
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Holland, P. W. H., Booth, H. A. F., Bruford, E. A.
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<strong>Classification and nomenclature of all human homeobox genes.</strong>
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BMC Biol. 5: 47, 2007. Note: Electronic Article.
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[PubMed: 17963489]
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[Full Text: https://doi.org/10.1186/1741-7007-5-47]
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<li>
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<p class="mim-text-font">
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Price, M., Lazzaro, D., Pohl, T., Mattei, M. G., Ruther, U., Olivo, J. C., Duboule, D., Di Lauro, R.
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<strong>Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain.</strong>
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Neuron 8: 241-255, 1992.
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[PubMed: 1346742]
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[Full Text: https://doi.org/10.1016/0896-6273(92)90291-k]
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<li>
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<p class="mim-text-font">
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Sussel, L., Kalamaras, J., Hartigan-O'Connor, D. J., Meneses, J. J., Pedersen, R. A., Rubenstein, J. L., German, M. S.
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<strong>Mice lacking the homeodomain transcription factor Nkx2.2 have diabetes due to arrested differentiation of pancreatic beta cells.</strong>
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Development 125: 2213-2221, 1998.
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[PubMed: 9584121]
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[Full Text: https://doi.org/10.1242/dev.125.12.2213]
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<p class="mim-text-font">
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Wang, C.-C., Brodnicki, T., Copeland, N. G., Jenkins, N. A., Harvey, R. P.
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<strong>Conserved linkage of NK-2 homeobox gene pairs Nkx2-2/2-4 and Nkx2-1/2-9 in mammals.</strong>
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Mammalian Genome 11: 466-468, 2000.
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[PubMed: 10818213]
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[Full Text: https://doi.org/10.1007/s003350010089]
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 02/07/2008<br>Cassandra L. Kniffin - updated : 8/15/2003<br>Victor A. McKusick - updated : 8/21/2000
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</span>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Paul J. Converse : 2/25/2000
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