2216 lines
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Entry
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- *308385 - INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA
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- OMIM
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<p>
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<span class="h4">*308385</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel-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=ENSG00000185291;t=ENST00000331035" 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=3563" 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=308385" 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=ENSG00000185291;t=ENST00000331035" 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_001267713,NM_002183,XM_005274431,XM_005274432,XM_017029491,XM_047442090,XM_047442091" 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_002183" 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=308385" 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://www.proteinatlas.org/search/IL3RA" 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/186331,417184,1345402,13324710,23273419,54781361,57163101,57163102,119619085,158254568,221554571,391224440,530420929,530420931,530423007,530423009,578877734,1034674220,1034676276,2217392068,2217392070,2217401177,2217401179,2462629362,2462629364,2462629366,2462629368,2462629370,2462631968,2462631970,2462631972,2462631974,2462631976" 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/P26951" 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=3563" 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=ENSG00000185291;t=ENST00000331035" 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=IL3RA" 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=IL3RA" 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+3563" 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/IL3RA" 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:3563" 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/3563" 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=chrX&hgg_gene=ENST00000711219.1&hgg_start=1336785&hgg_end=1382689&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="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=308385[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/ENSG00000185291" 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=IL3RA" 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=IL3RA" 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=IL3RA&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/PA29831" 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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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:6012" 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="http://v1.marrvel.org/search/gene/IL3RA#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="https://www.ncbi.nlm.nih.gov/gene/3563/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=3563" 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 style="display: table-cell;">Cellular Pathways</div>
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3563" 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=IL3RA&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="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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308385
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</span>
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INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA
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</span>
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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CD123 ANTIGEN; CD123
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=IL3RA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IL3RA</a></em></strong>
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Cytogenetic location: <a href="/geneMap/X/17?start=-3&limit=10&highlight=17">Xp22.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:1336785-1382689&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'})">X:1,336,785-1,382,689</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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<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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<div>
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>The receptor for interleukin-3 (IL3; <a href="/entry/147740">147740</a>) is a heterodimer that shares a beta chain (CSF2RB; <a href="/entry/138981">138981</a>) in common with the receptors for IL5 (IL5RA; <a href="/entry/147851">147851</a>) and GMCSF (CSF2RA; <a href="/entry/306250">306250</a>), and, like these other cytokine receptors, has a ligand-specific alpha chain (IL3RA) (<a href="#4" class="mim-tip-reference" title="Kremer, E., Baker, E., D'Andrea, R. J., Slim, R., Phillips, H., Moretti, P. A. B., Lopez, A. F., Petit, C., Vadas, M. A., Sutherland, G. R., Goodall, G. J. <strong>A cytokine receptor gene cluster in the X-Y pseudoautosomal region?</strong> Blood 82: 22-28, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8100720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8100720</a>]" pmid="8100720">Kremer et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8100720" 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="cloning" class="mim-anchor"></a>
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Cloning and Expression</strong>
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<p><a href="#1" class="mim-tip-reference" title="Itoh, N., Yonehara, S., Schreurs, J., Gorman, D. M., Maruyama, K., Ishii, A., Yahara, I., Arai, K., Miyajima, A. <strong>Cloning of an interleukin-3 receptor gene: a member of a distinct receptor gene family.</strong> Science 247: 324-327, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2404337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2404337</a>] [<a href="https://doi.org/10.1126/science.2404337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2404337">Itoh et al. (1990)</a> cloned IL3RA, a binding component of the IL3 receptor. Sequence comparison of the IL3 receptor with other cytokine receptors showed a common motif of a distinct receptor gene family. <a href="#2" class="mim-tip-reference" title="Kitamura, T., Sato, N., Arai, K., Miyajima, A. <strong>Expression cloning of the human IL-3 receptor cDNA reveals a shared beta-subunit for the human IL-3 and GM-CSF receptors.</strong> Cell 66: 1165-1174, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1833064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1833064</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90039-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1833064">Kitamura et al. (1991)</a> showed that the alpha chain for the IL3 receptor is a 360-amino acid glycoprotein of approximately 70 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2404337+1833064" 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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<strong>Gene Function</strong>
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<p><a href="#2" class="mim-tip-reference" title="Kitamura, T., Sato, N., Arai, K., Miyajima, A. <strong>Expression cloning of the human IL-3 receptor cDNA reveals a shared beta-subunit for the human IL-3 and GM-CSF receptors.</strong> Cell 66: 1165-1174, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1833064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1833064</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90039-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1833064">Kitamura et al. (1991)</a> found that IL3RA alone bound human IL3 with extremely low affinity. A high affinity IL3-binding site was reconstituted by coexpressing IL3RA and CSF2RB, indicating that IL3R and CSF2RA share the same beta subunit. As in human hematopoietic cells, IL3 and GMCSF competed for binding in fibroblasts expressing the cDNAs for IL3RA, CSF2RA, and the common beta subunit, indicating that different alpha subunits compete for a common beta subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1833064" 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="#6" class="mim-tip-reference" title="Siracusa, M. C., Saenz, S. A., Hill, D. A., Kim, B. S., Headley, M. B., Doering, T. A., Wherry, E. J., Jessup, H. K., Siegel, L. A., Kambayashi, T., Dudek, E. C., Kubo, M., Cianferoni, A., Spergel, J. M., Ziegler, S. F., Comeau, M. R., Artis, D. <strong>TSLP promotes interleukin-3-independent basophil haematopoiesis and type 2 inflammation.</strong> Nature 477: 229-233, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21841801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21841801</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21841801[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature10329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21841801">Siracusa et al. (2011)</a> demonstrated that TSLP (<a href="/entry/607003">607003</a>) promotes systemic basophilia, that disruption of TSLP-TSLPR (<a href="/entry/300357">300357</a>) interactions results in defective basophil responses, and that TSLPR-sufficient basophils can restore TH2-cell-dependent immunity in vivo. TSLP acted directly on bone marrow-resident progenitors to promote basophil responses selectively. Critically, TSLP could elicit basophil responses in both IL3-IL3R-sufficient and -deficient environments, and genomewide transcriptional profiling and functional analyses identified heterogeneity between TSLP-elicited versus IL3-elicited basophils. Furthermore, activated human basophils expressed TSLPR, and basophils isolated from eosinophilic esophagitis (see <a href="/entry/610247">610247</a>) patients were distinct from classical basophils. <a href="#6" class="mim-tip-reference" title="Siracusa, M. C., Saenz, S. A., Hill, D. A., Kim, B. S., Headley, M. B., Doering, T. A., Wherry, E. J., Jessup, H. K., Siegel, L. A., Kambayashi, T., Dudek, E. C., Kubo, M., Cianferoni, A., Spergel, J. M., Ziegler, S. F., Comeau, M. R., Artis, D. <strong>TSLP promotes interleukin-3-independent basophil haematopoiesis and type 2 inflammation.</strong> Nature 477: 229-233, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21841801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21841801</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21841801[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature10329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21841801">Siracusa et al. (2011)</a> concluded that collectively, their studies identified previously unrecognized heterogeneity within the basophil cell lineage and indicated that expression of TSLP may influence susceptibility to multiple allergic diseases by regulating basophil hematopoiesis and eliciting a population of functionally distinct basophils that promote TH2 cytokine-mediated inflammation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21841801" 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 overexpression analysis in mouse lung epithelial (MLE) cells, <a href="#7" class="mim-tip-reference" title="Tong, Y., Lear, T. B., Evankovich, J., Chen, Y., Londino, J. D., Myerburg, M. M., Zhang, Y., Popescu, I. D., McDyer, J. F., McVerry, B. J., Lockwood, K. C., Jurczak, M. J., Liu, Y., Chen, B. B. <strong>The RNFT2/IL-3R-alpha axis regulates IL-3 signaling and innate immunity.</strong> JCI Insight 5: e133652, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31990690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31990690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31990690[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/jci.insight.133652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31990690">Tong et al. (2020)</a> showed that Rnft2 (<a href="/entry/620254">620254</a>) negatively regulated Il3ra stability through ubiquitination and proteasomal degradation in response to Il3 signaling. Rnft2 affected Il3ra abundance and signaling in response to Il3 by associating with Il3ra and targeting it as a substrate. In vitro analysis in MLE cells revealed that Il3 augmented proinflammatory cellular responses to lipopolysaccharide (LPS) through Rnft2 and Il3ra, as LPS sensitized cells to Il3 through stabilization of Il3ra. Mutation analysis identified lys357 of Il3ra as a critical residue for regulation of its stability, as lys357 mutants were resistant to Rnft2-directed degradation. Analysis with a mouse model for pneumonia and severe lung injury found that Il3 drove inflammation in LPS-induced lung injury in vivo, and further analysis revealed that lung inflammation was regulated through the Rnft2/Il3ra/Il3 axis. Moreover, analysis with parenchymal explant lung samples from human cystic fibrosis (CF; <a href="/entry/219700">219700</a>) patients showed that the RNFT2/IL3RA/IL3 axis was also involved in human inflammatory lung disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31990690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Kosugi, H., Nakagawa, Y., Hotta, T., Saito, H., Miyajima, A., Arai, K., Yokota, T. <strong>Structure of the gene encoding the alpha subunit of the human interleukin 3 receptor.</strong> Biochem. Biophys. Res. Commun. 208: 360-367, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887951</a>] [<a href="https://doi.org/10.1006/bbrc.1995.1346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7887951">Kosugi et al. (1995)</a> cloned the IL3RA gene which spans about 40 kb and has 12 exons. The genomic structures of IL3RA and CSF2RA are very similar and share an additional exon encoding part of the C-terminal domain not found in other members of this gene family. This suggested that the 2 loci may share a common evolutionary pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887951" 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="#4" class="mim-tip-reference" title="Kremer, E., Baker, E., D'Andrea, R. J., Slim, R., Phillips, H., Moretti, P. A. B., Lopez, A. F., Petit, C., Vadas, M. A., Sutherland, G. R., Goodall, G. J. <strong>A cytokine receptor gene cluster in the X-Y pseudoautosomal region?</strong> Blood 82: 22-28, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8100720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8100720</a>]" pmid="8100720">Kremer et al. (1993)</a> found that the gene for the IL3 receptor, like the CSF2RA gene, maps within the X-Y pseudoautosomal region (PAR) (see <a href="/entry/430000">430000</a> for Y-chromosomal IL3RA). <a href="#4" class="mim-tip-reference" title="Kremer, E., Baker, E., D'Andrea, R. J., Slim, R., Phillips, H., Moretti, P. A. B., Lopez, A. F., Petit, C., Vadas, M. A., Sutherland, G. R., Goodall, G. J. <strong>A cytokine receptor gene cluster in the X-Y pseudoautosomal region?</strong> Blood 82: 22-28, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8100720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8100720</a>]" pmid="8100720">Kremer et al. (1993)</a> mapped the gene to the X and Y chromosomes by PCR analysis of human/rodent somatic cell hybrids and to chromosomes Yp13.3 and Xp22.3 by fluorescence in situ hybridization. The pseudoautosomal location of IL3R was confirmed by screening of 2 informative CEPH families showing male meiotic recombination with respect to RFLPs. Using long-range restriction mapping, they found, furthermore, that IL3RA maps to the same 190-kb restriction fragment as CSF2RA, suggesting that a cytokine receptor gene cluster may reside in the PAR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8100720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Milatovich, A., Kitamura, T., Miyajima, A., Francke, U. <strong>Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region.</strong> Am. J. Hum. Genet. 53: 1146-1153, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213838</a>]" pmid="8213838">Milatovich et al. (1993)</a> independently mapped the IL3RA gene to the X-Y pseudoautosomal region near the CSF2RA gene. Their methods were Southern analysis of somatic cell hybrid panels, pulsed field gel electrophoresis, and fluorescence chromosomal in situ hybridization. The CSF2RA and IL3RA genes were so close that their order could not be determined by two-color interphase in situ hybridization. Pseudoautosomal inheritance was demonstrated by an EcoRI RFLP detected with the IL3RA cDNA probe; 16 of 17 unrelated individuals of both sexes were heterozygous. They cited unpublished data indicating that the murine Il3ra locus maps to chromosome 14. <a href="#5" class="mim-tip-reference" title="Milatovich, A., Kitamura, T., Miyajima, A., Francke, U. <strong>Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region.</strong> Am. J. Hum. Genet. 53: 1146-1153, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213838</a>]" pmid="8213838">Milatovich et al. (1993)</a> found that the CSF2RA and IL3RA genes shared PFGE fragments generated by different restriction enzymes down to the 50- to 100-kb size range. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8213838" 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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Itoh, N., Yonehara, S., Schreurs, J., Gorman, D. M., Maruyama, K., Ishii, A., Yahara, I., Arai, K., Miyajima, A.
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<strong>Cloning of an interleukin-3 receptor gene: a member of a distinct receptor gene family.</strong>
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Science 247: 324-327, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2404337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2404337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2404337" 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/10.1126/science.2404337" target="_blank">Full Text</a>]
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Kitamura, T., Sato, N., Arai, K., Miyajima, A.
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<strong>Expression cloning of the human IL-3 receptor cDNA reveals a shared beta-subunit for the human IL-3 and GM-CSF receptors.</strong>
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Cell 66: 1165-1174, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1833064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1833064</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1833064" 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/10.1016/0092-8674(91)90039-2" target="_blank">Full Text</a>]
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Kosugi, H., Nakagawa, Y., Hotta, T., Saito, H., Miyajima, A., Arai, K., Yokota, T.
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<strong>Structure of the gene encoding the alpha subunit of the human interleukin 3 receptor.</strong>
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Biochem. Biophys. Res. Commun. 208: 360-367, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7887951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7887951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7887951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1995.1346" target="_blank">Full Text</a>]
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Kremer, E., Baker, E., D'Andrea, R. J., Slim, R., Phillips, H., Moretti, P. A. B., Lopez, A. F., Petit, C., Vadas, M. A., Sutherland, G. R., Goodall, G. J.
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<strong>A cytokine receptor gene cluster in the X-Y pseudoautosomal region?</strong>
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Blood 82: 22-28, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8100720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8100720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8100720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Milatovich, A., Kitamura, T., Miyajima, A., Francke, U.
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<strong>Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region.</strong>
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Am. J. Hum. Genet. 53: 1146-1153, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8213838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8213838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8213838" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Siracusa, M. C., Saenz, S. A., Hill, D. A., Kim, B. S., Headley, M. B., Doering, T. A., Wherry, E. J., Jessup, H. K., Siegel, L. A., Kambayashi, T., Dudek, E. C., Kubo, M., Cianferoni, A., Spergel, J. M., Ziegler, S. F., Comeau, M. R., Artis, D.
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<strong>TSLP promotes interleukin-3-independent basophil haematopoiesis and type 2 inflammation.</strong>
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Nature 477: 229-233, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21841801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21841801</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21841801[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=21841801" 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/nature10329" target="_blank">Full Text</a>]
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Tong, Y., Lear, T. B., Evankovich, J., Chen, Y., Londino, J. D., Myerburg, M. M., Zhang, Y., Popescu, I. D., McDyer, J. F., McVerry, B. J., Lockwood, K. C., Jurczak, M. J., Liu, Y., Chen, B. B.
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<strong>The RNFT2/IL-3R-alpha axis regulates IL-3 signaling and innate immunity.</strong>
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JCI Insight 5: e133652, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31990690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31990690</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31990690[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=31990690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1172/jci.insight.133652" 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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Bao Lige - updated : 02/17/2023
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<span class="mim-text-font">
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Ada Hamosh - updated : 9/21/2011<br>Matthew B. Gross - updated : 2/19/2009<br>Alan F. Scott - updated : 6/26/1995
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/1/1993
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mgross : 02/17/2023
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mgross : 02/17/2023<br>alopez : 09/22/2011<br>terry : 9/21/2011<br>mgross : 2/19/2009<br>terry : 8/26/2008<br>mgross : 9/19/2002<br>dkim : 7/2/1998<br>joanna : 5/8/1998<br>mark : 6/26/1995<br>carol : 4/27/1994<br>terry : 4/21/1994<br>carol : 11/8/1993<br>carol : 10/21/1993<br>carol : 10/18/1993
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<span class="mim-font">
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<strong>*</strong> 308385
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<h3>
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INTERLEUKIN 3 RECEPTOR, ALPHA; IL3RA
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<em>Alternative titles; symbols</em>
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CD123 ANTIGEN; CD123
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<strong><em>HGNC Approved Gene Symbol: IL3RA</em></strong>
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Cytogenetic location: Xp22.33
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Genomic coordinates <span class="small">(GRCh38)</span> : X:1,336,785-1,382,689 </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>Description</strong>
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<p>The receptor for interleukin-3 (IL3; 147740) is a heterodimer that shares a beta chain (CSF2RB; 138981) in common with the receptors for IL5 (IL5RA; 147851) and GMCSF (CSF2RA; 306250), and, like these other cytokine receptors, has a ligand-specific alpha chain (IL3RA) (Kremer et al., 1993). </p>
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<strong>Cloning and Expression</strong>
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<p>Itoh et al. (1990) cloned IL3RA, a binding component of the IL3 receptor. Sequence comparison of the IL3 receptor with other cytokine receptors showed a common motif of a distinct receptor gene family. Kitamura et al. (1991) showed that the alpha chain for the IL3 receptor is a 360-amino acid glycoprotein of approximately 70 kD. </p>
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<strong>Gene Function</strong>
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<p>Kitamura et al. (1991) found that IL3RA alone bound human IL3 with extremely low affinity. A high affinity IL3-binding site was reconstituted by coexpressing IL3RA and CSF2RB, indicating that IL3R and CSF2RA share the same beta subunit. As in human hematopoietic cells, IL3 and GMCSF competed for binding in fibroblasts expressing the cDNAs for IL3RA, CSF2RA, and the common beta subunit, indicating that different alpha subunits compete for a common beta subunit. </p><p>Siracusa et al. (2011) demonstrated that TSLP (607003) promotes systemic basophilia, that disruption of TSLP-TSLPR (300357) interactions results in defective basophil responses, and that TSLPR-sufficient basophils can restore TH2-cell-dependent immunity in vivo. TSLP acted directly on bone marrow-resident progenitors to promote basophil responses selectively. Critically, TSLP could elicit basophil responses in both IL3-IL3R-sufficient and -deficient environments, and genomewide transcriptional profiling and functional analyses identified heterogeneity between TSLP-elicited versus IL3-elicited basophils. Furthermore, activated human basophils expressed TSLPR, and basophils isolated from eosinophilic esophagitis (see 610247) patients were distinct from classical basophils. Siracusa et al. (2011) concluded that collectively, their studies identified previously unrecognized heterogeneity within the basophil cell lineage and indicated that expression of TSLP may influence susceptibility to multiple allergic diseases by regulating basophil hematopoiesis and eliciting a population of functionally distinct basophils that promote TH2 cytokine-mediated inflammation. </p><p>By overexpression analysis in mouse lung epithelial (MLE) cells, Tong et al. (2020) showed that Rnft2 (620254) negatively regulated Il3ra stability through ubiquitination and proteasomal degradation in response to Il3 signaling. Rnft2 affected Il3ra abundance and signaling in response to Il3 by associating with Il3ra and targeting it as a substrate. In vitro analysis in MLE cells revealed that Il3 augmented proinflammatory cellular responses to lipopolysaccharide (LPS) through Rnft2 and Il3ra, as LPS sensitized cells to Il3 through stabilization of Il3ra. Mutation analysis identified lys357 of Il3ra as a critical residue for regulation of its stability, as lys357 mutants were resistant to Rnft2-directed degradation. Analysis with a mouse model for pneumonia and severe lung injury found that Il3 drove inflammation in LPS-induced lung injury in vivo, and further analysis revealed that lung inflammation was regulated through the Rnft2/Il3ra/Il3 axis. Moreover, analysis with parenchymal explant lung samples from human cystic fibrosis (CF; 219700) patients showed that the RNFT2/IL3RA/IL3 axis was also involved in human inflammatory lung disease. </p>
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<strong>Gene Structure</strong>
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<p>Kosugi et al. (1995) cloned the IL3RA gene which spans about 40 kb and has 12 exons. The genomic structures of IL3RA and CSF2RA are very similar and share an additional exon encoding part of the C-terminal domain not found in other members of this gene family. This suggested that the 2 loci may share a common evolutionary pathway. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Kremer et al. (1993) found that the gene for the IL3 receptor, like the CSF2RA gene, maps within the X-Y pseudoautosomal region (PAR) (see 430000 for Y-chromosomal IL3RA). Kremer et al. (1993) mapped the gene to the X and Y chromosomes by PCR analysis of human/rodent somatic cell hybrids and to chromosomes Yp13.3 and Xp22.3 by fluorescence in situ hybridization. The pseudoautosomal location of IL3R was confirmed by screening of 2 informative CEPH families showing male meiotic recombination with respect to RFLPs. Using long-range restriction mapping, they found, furthermore, that IL3RA maps to the same 190-kb restriction fragment as CSF2RA, suggesting that a cytokine receptor gene cluster may reside in the PAR. </p><p>Milatovich et al. (1993) independently mapped the IL3RA gene to the X-Y pseudoautosomal region near the CSF2RA gene. Their methods were Southern analysis of somatic cell hybrid panels, pulsed field gel electrophoresis, and fluorescence chromosomal in situ hybridization. The CSF2RA and IL3RA genes were so close that their order could not be determined by two-color interphase in situ hybridization. Pseudoautosomal inheritance was demonstrated by an EcoRI RFLP detected with the IL3RA cDNA probe; 16 of 17 unrelated individuals of both sexes were heterozygous. They cited unpublished data indicating that the murine Il3ra locus maps to chromosome 14. Milatovich et al. (1993) found that the CSF2RA and IL3RA genes shared PFGE fragments generated by different restriction enzymes down to the 50- to 100-kb size range. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<ol>
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<p class="mim-text-font">
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Itoh, N., Yonehara, S., Schreurs, J., Gorman, D. M., Maruyama, K., Ishii, A., Yahara, I., Arai, K., Miyajima, A.
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<strong>Cloning of an interleukin-3 receptor gene: a member of a distinct receptor gene family.</strong>
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Science 247: 324-327, 1990.
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[PubMed: 2404337]
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[Full Text: https://doi.org/10.1126/science.2404337]
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<p class="mim-text-font">
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Kitamura, T., Sato, N., Arai, K., Miyajima, A.
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<strong>Expression cloning of the human IL-3 receptor cDNA reveals a shared beta-subunit for the human IL-3 and GM-CSF receptors.</strong>
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Cell 66: 1165-1174, 1991.
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[PubMed: 1833064]
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[Full Text: https://doi.org/10.1016/0092-8674(91)90039-2]
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<p class="mim-text-font">
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Kosugi, H., Nakagawa, Y., Hotta, T., Saito, H., Miyajima, A., Arai, K., Yokota, T.
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<strong>Structure of the gene encoding the alpha subunit of the human interleukin 3 receptor.</strong>
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Biochem. Biophys. Res. Commun. 208: 360-367, 1995.
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[PubMed: 7887951]
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[Full Text: https://doi.org/10.1006/bbrc.1995.1346]
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Kremer, E., Baker, E., D'Andrea, R. J., Slim, R., Phillips, H., Moretti, P. A. B., Lopez, A. F., Petit, C., Vadas, M. A., Sutherland, G. R., Goodall, G. J.
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<strong>A cytokine receptor gene cluster in the X-Y pseudoautosomal region?</strong>
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Blood 82: 22-28, 1993.
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[PubMed: 8100720]
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<li>
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<p class="mim-text-font">
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Milatovich, A., Kitamura, T., Miyajima, A., Francke, U.
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<strong>Gene for the alpha-subunit of the human interleukin-3 receptor (IL3RA) localized to the X-Y pseudoautosomal region.</strong>
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Am. J. Hum. Genet. 53: 1146-1153, 1993.
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[PubMed: 8213838]
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<p class="mim-text-font">
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Siracusa, M. C., Saenz, S. A., Hill, D. A., Kim, B. S., Headley, M. B., Doering, T. A., Wherry, E. J., Jessup, H. K., Siegel, L. A., Kambayashi, T., Dudek, E. C., Kubo, M., Cianferoni, A., Spergel, J. M., Ziegler, S. F., Comeau, M. R., Artis, D.
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<strong>TSLP promotes interleukin-3-independent basophil haematopoiesis and type 2 inflammation.</strong>
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Nature 477: 229-233, 2011.
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[PubMed: 21841801]
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[Full Text: https://doi.org/10.1038/nature10329]
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<p class="mim-text-font">
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Tong, Y., Lear, T. B., Evankovich, J., Chen, Y., Londino, J. D., Myerburg, M. M., Zhang, Y., Popescu, I. D., McDyer, J. F., McVerry, B. J., Lockwood, K. C., Jurczak, M. J., Liu, Y., Chen, B. B.
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<strong>The RNFT2/IL-3R-alpha axis regulates IL-3 signaling and innate immunity.</strong>
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JCI Insight 5: e133652, 2020.
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[PubMed: 31990690]
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[Full Text: https://doi.org/10.1172/jci.insight.133652]
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 02/17/2023<br>Ada Hamosh - updated : 9/21/2011<br>Matthew B. Gross - updated : 2/19/2009<br>Alan F. Scott - updated : 6/26/1995
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Victor A. McKusick : 10/1/1993
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Edit History:
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</span>
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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 : 02/17/2023<br>mgross : 02/17/2023<br>alopez : 09/22/2011<br>terry : 9/21/2011<br>mgross : 2/19/2009<br>terry : 8/26/2008<br>mgross : 9/19/2002<br>dkim : 7/2/1998<br>joanna : 5/8/1998<br>mark : 6/26/1995<br>carol : 4/27/1994<br>terry : 4/21/1994<br>carol : 11/8/1993<br>carol : 10/21/1993<br>carol : 10/18/1993
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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