2047 lines
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2047 lines
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Entry
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- *450000 - CD99 ANTIGEN, Y CHROMOSOME
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- OMIM
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<p>
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<span class="h4">*450000</span>
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<br />
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<strong>Table of Contents</strong>
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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="#description">Description</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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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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</a>
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</h4>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000002586;t=ENST00000381192" 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=4267" 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=450000" 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=ENSG00000002586;t=ENST00000381192" 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_001122898,NM_001321367,NM_001321368,NM_001321369,NM_001321370,NM_002414,NR_135623" 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://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=450000" 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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<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=02434&isoform_id=02434_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/CD99" 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/30949,119049,188543,553590,2149135,4505183,12803515,13111949,14603304,18203697,19352993,47496519,119619103,119619104,119619105,119619106,171543879,189069347,311461914,578877758,1008909398,1008909400,1008909402,1008909404" 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/P14209" 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=4267" 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=ENSG00000002586;t=ENST00000381192" 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=CD99" 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=CD99" 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+4267" 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/CD99" 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/4267" 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=chrY&hgg_gene=ENST00000711160.1&hgg_start=2691295&hgg_end=2741309&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=450000[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/ENSG00000002586" 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=CD99" 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=CD99" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.LOVD.nl/CD99" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CD99&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/PA30804" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7082" 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://www.mousephenotype.org/data/genes/MGI:1913728" 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/CD99#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:1913728" 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/4267/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=4267" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-061103-391" 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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<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:4267" 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=CD99&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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<a id="title" class="mim-anchor"></a>
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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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450000
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CD99 ANTIGEN, Y CHROMOSOME
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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MIC2 SURFACE ANTIGEN, Y CHROMOSOME; MIC2Y<br />
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CELL SURFACE ANTIGEN 12E7, Y CHROMOSOME<br />
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CELL SURFACE ANTIGEN HBA-71, Y CHROMOSOME; HBA71<br />
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E2 ANTIGEN, Y CHROMOSOME<br />
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CELL SURFACE ANTIGEN O13, Y CHROMOSOME
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<br />
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CD99" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CD99</a></em></strong>
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<strong>
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Cytogenetic location: <a href="/geneMap/Y/12?start=-3&limit=10&highlight=12">Yp11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrY:2691295-2741309&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'})">Y:2,691,295-2,741,309</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 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 id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>CD99 is a 32-kD T-cell surface glycoprotein involved in spontaneous rosette formation with erythrocytes (<a href="#1" class="mim-tip-reference" title="Bernard, A., Aubrit, A., Raynal, B., Phan, D., Boumsell, L. <strong>A T cell surface molecule different from CD2 is involved in spontaneous rosette formation with erythrocytes.</strong> J. Immun. 140: 1802-1807, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2894395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2894395</a>]" pmid="2894395">Bernard et al., 1988</a>). The gene encoding CD99 is located in the pseudoautosomal region (PAR) at the end of the short arm of the X and Y chromosomes (<a href="#6" class="mim-tip-reference" title="Goodfellow, P., Banting, G., Sheer, D., Ropers, H. H., Caine, A., Ferguson-Smith, M. A., Povey, S., Voss, R. <strong>Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome.</strong> Nature 302: 346-349, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188056</a>] [<a href="https://doi.org/10.1038/302346a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6188056">Goodfellow et al., 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6188056+2894395" 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>For information on the cloning and function of CD99, see <a href="/entry/313470">313470</a>.</p>
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<strong>Mapping</strong>
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<p><a href="#6" class="mim-tip-reference" title="Goodfellow, P., Banting, G., Sheer, D., Ropers, H. H., Caine, A., Ferguson-Smith, M. A., Povey, S., Voss, R. <strong>Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome.</strong> Nature 302: 346-349, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188056</a>] [<a href="https://doi.org/10.1038/302346a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6188056">Goodfellow et al. (1983)</a> showed that the gene for the E2 antigen, called MIC2 (M = monoclonal; IC = Imperial Cancer Research Fund; 2 = order of discovery), maps to the band between Xp22.3 and Xpter, the same as STS (<a href="/entry/300747">300747</a>) and Xg (<a href="/entry/314700">314700</a>). A surprising finding of their study was that of a homologous locus on the Y chromosome in the euchromatin region Ypter-q11.1. This was the first instance of a clear Y-linked structural gene. <a href="#4" class="mim-tip-reference" title="Dracopoli, N. C., Rettig, W. J., Albino, A. P., Esposito, D., Archidiacono, N., Rocchi, M., Siniscalco, M., Old, L. J. <strong>Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation.</strong> Am. J. Hum. Genet. 37: 199-207, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4038849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4038849</a>]" pmid="4038849">Dracopoli et al. (1985)</a> described a monoclonal antibody, O13, that appeared to recognize the same antigen determined by the X and Y genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6188056+4038849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Darling, S. M., Banting, G. S., Pym, B., Wolfe, J., Goodfellow, P. N. <strong>Cloning an expressed gene shared by the human sex chromosomes.</strong> Proc. Nat. Acad. Sci. 83: 135-139, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2934738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2934738</a>] [<a href="https://doi.org/10.1073/pnas.83.1.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2934738">Darling et al. (1986)</a> cloned the MIC2X and MIC2Y genes and concluded that their sequences are closely related or identical. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2934738" 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 in situ hybridization, <a href="#2" class="mim-tip-reference" title="Buckle, V., Mondello, C., Darling, S., Craig, I. W., Goodfellow, P. N. <strong>Homologous expressed genes in the human sex chromosome pairing region.</strong> Nature 317: 739-741, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4058580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4058580</a>] [<a href="https://doi.org/10.1038/317739a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4058580">Buckle et al. (1985)</a> showed that MIC2Y is located on the distal part of Yp, namely, Ypter-p11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4058580" 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>On the basis of an X/Y translocation in which STS activity was retained with the X chromosome (selected by fusion with an HPRT-deficient mouse cell line) but MIC2X was lost, <a href="#5" class="mim-tip-reference" title="Geller, R. L., Shapiro, L. J., Mohandas, T. K. <strong>Fine mapping of the distal short arm of the human X chromosome using X/Y translocations.</strong> Am. J. Hum. Genet. 38: 884-890, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3460334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3460334</a>]" pmid="3460334">Geller et al. (1986)</a> concluded that MIC2X is distal to STS. The order of Y-specific sequences located centromeric to the sex-determining gene(s), and therefore not pseudoautosomal, was determined on the basis of their presence or absence in DNA from XX males, and the order of pseudoautosomal loci situated distal to TDF was established on the basis of family studies such as those presented by <a href="#7" class="mim-tip-reference" title="Goodfellow, P. J., Darling, S. M., Thomas, N. S., Goodfellow, P. N. <strong>A pseudoautosomal gene in man.</strong> Science 234: 740-743, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877492</a>] [<a href="https://doi.org/10.1126/science.2877492" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2877492">Goodfellow et al. (1986)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3460334+2877492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Bernard1988" class="mim-anchor"></a>
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Bernard, A., Aubrit, A., Raynal, B., Phan, D., Boumsell, L.
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<strong>A T cell surface molecule different from CD2 is involved in spontaneous rosette formation with erythrocytes.</strong>
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J. Immun. 140: 1802-1807, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2894395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2894395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2894395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Buckle1985" class="mim-anchor"></a>
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Buckle, V., Mondello, C., Darling, S., Craig, I. W., Goodfellow, P. N.
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<strong>Homologous expressed genes in the human sex chromosome pairing region.</strong>
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Nature 317: 739-741, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4058580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4058580</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4058580" 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/10.1038/317739a0" target="_blank">Full Text</a>]
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<a id="Darling1986" class="mim-anchor"></a>
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Darling, S. M., Banting, G. S., Pym, B., Wolfe, J., Goodfellow, P. N.
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<strong>Cloning an expressed gene shared by the human sex chromosomes.</strong>
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Proc. Nat. Acad. Sci. 83: 135-139, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2934738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2934738</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2934738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.83.1.135" target="_blank">Full Text</a>]
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<a id="Dracopoli1985" class="mim-anchor"></a>
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Dracopoli, N. C., Rettig, W. J., Albino, A. P., Esposito, D., Archidiacono, N., Rocchi, M., Siniscalco, M., Old, L. J.
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<strong>Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation.</strong>
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Am. J. Hum. Genet. 37: 199-207, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4038849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4038849</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4038849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
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Geller, R. L., Shapiro, L. J., Mohandas, T. K.
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<strong>Fine mapping of the distal short arm of the human X chromosome using X/Y translocations.</strong>
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Am. J. Hum. Genet. 38: 884-890, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3460334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3460334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3460334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Goodfellow, P., Banting, G., Sheer, D., Ropers, H. H., Caine, A., Ferguson-Smith, M. A., Povey, S., Voss, R.
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<strong>Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome.</strong>
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Nature 302: 346-349, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6188056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6188056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6188056" 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/10.1038/302346a0" target="_blank">Full Text</a>]
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Goodfellow, P. J., Darling, S. M., Thomas, N. S., Goodfellow, P. N.
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<strong>A pseudoautosomal gene in man.</strong>
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Science 234: 740-743, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2877492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2877492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2877492" 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.2877492" target="_blank">Full Text</a>]
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Creation Date:
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Victor A. McKusick : 9/14/1992
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carol : 08/31/2009
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joanna : 8/26/2009<br>carol : 10/31/2008<br>joanna : 7/8/1996<br>mimadm : 3/11/1994<br>carol : 9/22/1992<br>carol : 9/14/1992
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MIC2 SURFACE ANTIGEN, Y CHROMOSOME; MIC2Y<br />
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CELL SURFACE ANTIGEN 12E7, Y CHROMOSOME<br />
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CELL SURFACE ANTIGEN HBA-71, Y CHROMOSOME; HBA71<br />
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E2 ANTIGEN, Y CHROMOSOME<br />
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CELL SURFACE ANTIGEN O13, Y CHROMOSOME
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<span class="small">(from NCBI)</span>
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<p>CD99 is a 32-kD T-cell surface glycoprotein involved in spontaneous rosette formation with erythrocytes (Bernard et al., 1988). The gene encoding CD99 is located in the pseudoautosomal region (PAR) at the end of the short arm of the X and Y chromosomes (Goodfellow et al., 1983). </p><p>For information on the cloning and function of CD99, see 313470.</p>
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<p>Goodfellow et al. (1983) showed that the gene for the E2 antigen, called MIC2 (M = monoclonal; IC = Imperial Cancer Research Fund; 2 = order of discovery), maps to the band between Xp22.3 and Xpter, the same as STS (300747) and Xg (314700). A surprising finding of their study was that of a homologous locus on the Y chromosome in the euchromatin region Ypter-q11.1. This was the first instance of a clear Y-linked structural gene. Dracopoli et al. (1985) described a monoclonal antibody, O13, that appeared to recognize the same antigen determined by the X and Y genes. </p><p>Darling et al. (1986) cloned the MIC2X and MIC2Y genes and concluded that their sequences are closely related or identical. </p><p>By in situ hybridization, Buckle et al. (1985) showed that MIC2Y is located on the distal part of Yp, namely, Ypter-p11.2. </p><p>On the basis of an X/Y translocation in which STS activity was retained with the X chromosome (selected by fusion with an HPRT-deficient mouse cell line) but MIC2X was lost, Geller et al. (1986) concluded that MIC2X is distal to STS. The order of Y-specific sequences located centromeric to the sex-determining gene(s), and therefore not pseudoautosomal, was determined on the basis of their presence or absence in DNA from XX males, and the order of pseudoautosomal loci situated distal to TDF was established on the basis of family studies such as those presented by Goodfellow et al. (1986). </p>
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<strong>REFERENCES</strong>
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Bernard, A., Aubrit, A., Raynal, B., Phan, D., Boumsell, L.
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<strong>A T cell surface molecule different from CD2 is involved in spontaneous rosette formation with erythrocytes.</strong>
|
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J. Immun. 140: 1802-1807, 1988.
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[PubMed: 2894395]
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Buckle, V., Mondello, C., Darling, S., Craig, I. W., Goodfellow, P. N.
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<strong>Homologous expressed genes in the human sex chromosome pairing region.</strong>
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Nature 317: 739-741, 1985.
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[PubMed: 4058580]
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[Full Text: https://doi.org/10.1038/317739a0]
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<p class="mim-text-font">
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Darling, S. M., Banting, G. S., Pym, B., Wolfe, J., Goodfellow, P. N.
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<strong>Cloning an expressed gene shared by the human sex chromosomes.</strong>
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Proc. Nat. Acad. Sci. 83: 135-139, 1986.
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[PubMed: 2934738]
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[Full Text: https://doi.org/10.1073/pnas.83.1.135]
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</p>
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Dracopoli, N. C., Rettig, W. J., Albino, A. P., Esposito, D., Archidiacono, N., Rocchi, M., Siniscalco, M., Old, L. J.
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<strong>Genes controlling gp25/30 cell-surface molecules map to chromosomes X and Y and escape X-inactivation.</strong>
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Am. J. Hum. Genet. 37: 199-207, 1985.
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[PubMed: 4038849]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Geller, R. L., Shapiro, L. J., Mohandas, T. K.
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<strong>Fine mapping of the distal short arm of the human X chromosome using X/Y translocations.</strong>
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Am. J. Hum. Genet. 38: 884-890, 1986.
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[PubMed: 3460334]
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</p>
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<li>
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Goodfellow, P., Banting, G., Sheer, D., Ropers, H. H., Caine, A., Ferguson-Smith, M. A., Povey, S., Voss, R.
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<strong>Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome.</strong>
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Nature 302: 346-349, 1983.
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[PubMed: 6188056]
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[Full Text: https://doi.org/10.1038/302346a0]
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Goodfellow, P. J., Darling, S. M., Thomas, N. S., Goodfellow, P. N.
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<strong>A pseudoautosomal gene in man.</strong>
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Science 234: 740-743, 1986.
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[PubMed: 2877492]
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[Full Text: https://doi.org/10.1126/science.2877492]
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Victor A. McKusick : 9/14/1992
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