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Entry
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- *177070 - PROTEIN 4.2, ERYTHROCYTIC; EPB42
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*177070</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/177070">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</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 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>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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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=ENSG00000166947;t=ENST00000441366" 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=2038" 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=177070" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel-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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<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=ENSG00000166947;t=ENST00000441366" 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_000119,NM_001114134,XM_005254225,XM_011521350,XM_011521351,XM_011521352,XM_011521353,XM_011521354" 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_001114134" 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=177070" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01517&isoform_id=01517_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/EPB42" 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/182084,189434,189436,306740,951198,7595354,64653000,64654099,64654103,68563322,119612997,119612998,166362735,166362737,215274164,221041664,221041934,530405519,767983595,767983597,767983599,767983601,767983603,2462543156,2462543158,2462543160,2462543162,2462543164,2462543166,2462543168" 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/P16452" 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 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=2038" 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=ENSG00000166947;t=ENST00000441366" 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=EPB42" 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=EPB42" 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+2038" 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/EPB42" 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:2038" 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/2038" 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=chr15&hgg_gene=ENST00000563128.6&hgg_start=43197227&hgg_end=43225737&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3381" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=177070[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div 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=177070[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/ENSG00000166947" 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=EPB42" 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=EPB42" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=EPB42" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=EPB42&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/PA27814" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:3381" 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:95402" 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/EPB42#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:95402" 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/2038/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=2038" 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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=EPB42&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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177070
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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PROTEIN 4.2, ERYTHROCYTIC; EPB42
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EPB42" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EPB42</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/15/142?start=-3&limit=10&highlight=142">15q15.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:43197227-43225737&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'})">15:43,197,227-43,225,737</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/15/142?start=-3&limit=10&highlight=142">
|
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15q15.2
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Spherocytosis, type 5
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/612690"> 612690 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/177070" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/177070" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
|
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</span>
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#14" class="mim-tip-reference" title="Korsgren, C., Lawler, J., Lambert, S., Speicher, D., Cohen, C. M. <strong>Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2.</strong> Proc. Nat. Acad. Sci. 87: 613-617, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300550</a>] [<a href="https://doi.org/10.1073/pnas.87.2.613" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2300550">Korsgren et al. (1990)</a> cloned and sequenced protein band 4.2 from a human reticulocyte cDNA library. The deduced 691-amino acid band 4.2 protein has homology with 2 closely related calcium-dependent crosslinking proteins, guinea pig liver transglutaminase and the alpha subunit of human coagulation factor XIII (F13A1; <a href="/entry/134570">134570</a>). Within the 5 contiguous consensus residues of the transglutaminase active site, band 4.2 has an amino acid substitution which leads to loss of transglutaminase activity. <a href="#18" class="mim-tip-reference" title="Sung, L. A., Chien, S., Chang, L.-S., Lambert, K., Bliss, S. A., Bouhassira, E. E., Nagel, R. L., Schwartz, R. S., Rybicki, A. C. <strong>Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane.</strong> Proc. Nat. Acad. Sci. 87: 955-959, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1689063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1689063</a>] [<a href="https://doi.org/10.1073/pnas.87.3.955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1689063">Sung et al. (1990)</a> also cloned protein 4.2 and likewise found homology to the 2 transglutaminases, as well as the lack of the critical residue required for enzymatic crosslinking of substrates. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1689063+2300550" 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="#12" class="mim-tip-reference" title="Korsgren, C., Cohen, C. M. <strong>Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the A subunit of factor XIII.</strong> Proc. Nat. Acad. Sci. 88: 4840-4844, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2052563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2052563</a>] [<a href="https://doi.org/10.1073/pnas.88.11.4840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2052563">Korsgren and Cohen (1991)</a> showed that reticulocytes contain 2 different sized EPB42 messages; the major, smaller, message is produced by alternative splicing. They found that the human and murine proteins share 72% sequence identity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2052563" 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="#12" class="mim-tip-reference" title="Korsgren, C., Cohen, C. M. <strong>Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the A subunit of factor XIII.</strong> Proc. Nat. Acad. Sci. 88: 4840-4844, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2052563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2052563</a>] [<a href="https://doi.org/10.1073/pnas.88.11.4840" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2052563">Korsgren and Cohen (1991)</a> showed that the band 4.2 gene is about 20 kb long and contains 13 exons. Alignment of the band 4.2 amino acid sequence with that of F13A2 and division of the sequences into exons showed a remarkable correspondence, and in most cases identity, in the sizes of the paired exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2052563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Korsgren, C., Cohen, C. M. <strong>cDNA sequence, gene sequence, and properties of murine pallidin (band 4.2), the protein implicated in the murine pallid mutation.</strong> Genomics 21: 478-485, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959722</a>] [<a href="https://doi.org/10.1006/geno.1994.1304" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959722">Korsgren and Cohen (1994)</a> found that the organization and size of the human and mouse EPB42 genes are identical. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959722" 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="#19" class="mim-tip-reference" title="Sung, L. A., Fan, Y. S., Lambert, K., Chien, S., Lin, C. <strong>Mapping of gene for human erythrocyte protein 4.2 to chromosomal region 15q15-q21. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1996, 1991."None>Sung et al. (1991)</a> mapped the EPB42 gene to 15q15-q21 by fluorescence in situ hybridization. <a href="#16" class="mim-tip-reference" title="Najfeld, V., Ballard, S. G., Menninger, J., Ward, D. C., Bouhassira, E. E., Schwartz, R. S., Nagel, R. L., Rybicki, A. C. <strong>The gene for human erythrocyte protein 4.2 maps to chromosome 15q15.</strong> Am. J. Hum. Genet. 50: 71-75, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729896</a>]" pmid="1729896">Najfeld et al. (1992)</a> assigned the gene to 15q15 by fluorescence in situ hybridization. <a href="#21" class="mim-tip-reference" title="White, R. A., Peters, L. L., Adkison, L. R., Korsgren, C., Cohen, C. M., Lux, S. E. <strong>The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene.</strong> Nature Genet. 2: 80-83, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1284644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1284644</a>] [<a href="https://doi.org/10.1038/ng0992-80" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1284644">White et al. (1992)</a> mapped the Epb42 gene to mouse chromosome 2, which shares an extensive segment of syntenic homology with human chromosome 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1284644+1729896" 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 long-range genomic PCR, <a href="#7" class="mim-tip-reference" title="Grenard, P., Bates, M. K., Aeschlimann, D. <strong>Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15: structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z.</strong> J. Biol. Chem. 276: 33066-33078, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390390</a>] [<a href="https://doi.org/10.1074/jbc.M102553200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11390390">Grenard et al. (2001)</a> mapped the EPB42 gene to a 100-kb region of 15q15.2, arranged in tandem with 2 other transglutaminase genes, TGM5 (<a href="/entry/603805">603805</a>) and TGM7 (<a href="/entry/606776">606776</a>). By radiation hybrid analysis, <a href="#7" class="mim-tip-reference" title="Grenard, P., Bates, M. K., Aeschlimann, D. <strong>Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15: structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z.</strong> J. Biol. Chem. 276: 33066-33078, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390390</a>] [<a href="https://doi.org/10.1074/jbc.M102553200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11390390">Grenard et al. (2001)</a> mapped the mouse Epb42, Tgm5, and Tgm7 genes in close proximity on chromosome 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11390390" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In the red cell membrane skeleton, protein 4.2 may regulate the association of protein 3 (<a href="/entry/109270">109270</a>) with ankyrin (<a href="/entry/612641">612641</a>) (<a href="#5" class="mim-tip-reference" title="Davies, K. A., Lux, S. E. <strong>Hereditary disorders of the red cell membrane skeleton.</strong> Trends Genet. 5: 222-227, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2675425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2675425</a>] [<a href="https://doi.org/10.1016/0168-9525(89)90086-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2675425">Davies and Lux, 1989</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2675425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Azim, A. C., Marfatia, S. M., Korsgren, C., Dotimas, E., Cohen, C. M., Chishti, A. H. <strong>Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins.</strong> Biochemistry 35: 3001-3006, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8608138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8608138</a>] [<a href="https://doi.org/10.1021/bi951745y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8608138">Azim et al. (1996)</a> demonstrated that both protein 4.2 and dematin (<a href="/entry/125305">125305</a>) are ATP-binding proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8608138" 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="#4" class="mim-tip-reference" title="Bruce, L. J., Ghosh, S., King, M. J., Layton, D. M., Mawby, W. J., Stewart, G. W., Oldenborg, P.-A., Delaunay, J., Tanner, M. J. A. <strong>Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.</strong> Blood 100: 1878-1885, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12176912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12176912</a>] [<a href="https://doi.org/10.1182/blood-2002-03-0706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12176912">Bruce et al. (2002)</a> observed that protein 4.2 and CD47 interact in the human red cell membrane, which provided further evidence for an association between the band 3 complex (which includes protein 4.2) and the Rh complex, and defined a point of attachment between the Rh complex and the red cell cytoskeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12176912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 4 unrelated Japanese patients with autosomal recessive hereditary spherocytosis (SPH5; <a href="/entry/612690">612690</a>), Bouhassira et al. (<a href="#3" class="mim-tip-reference" title="Bouhassira, E. E., Schwartz, R. S., Yawata, Y., Ata, K., Nagel, R. L., Rybicki, A. C. <strong>An alanine to threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia. (Abstract)</strong> Clin. Res. 39: 313A, 1991."None>1991</a>, <a href="#2" class="mim-tip-reference" title="Bouhassira, E. E., Schwartz, R. S., Yawata, Y., Ata, K., Kanzaki, A., Qui, J. J.-H., Nagel, R. L., Rybicki, A. C. <strong>An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2-Nippon).</strong> Blood 79: 1846-1854, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1558976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1558976</a>]" pmid="1558976">1992</a>) identified homozygosity for a mutation in the EPB42 gene (<a href="#0001">177070.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1558976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Portuguese woman with recessively transmitted hemolytic anemia, <a href="#9" class="mim-tip-reference" title="Hayette, S., Dhermy, D., dos Santos, M.-E., Bozon, M., Drenckhahn, D., Alloisio, N., Texier, P., Delaunay, J., Morle, L. <strong>A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.</strong> Blood 85: 250-256, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7803799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7803799</a>]" pmid="7803799">Hayette et al. (1995)</a> identified a mutation in the EPB42 gene (<a href="#0002">177070.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7803799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In Tunisian sibs with autosomal recessive hemolytic anemia reported by <a href="#6" class="mim-tip-reference" title="Ghanem, A., Pothier, B., Marechal, J., Ducluzeau, M. T., Morle, L., Alloisio, N., Feo, C., Ben Abdeladhim, A., Fattoum, S., Delaunay, J. <strong>A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings.</strong> Brit. J. Haemat. 75: 414-420, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2386772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2386772</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1990.tb04357.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2386772">Ghanem et al. (1990)</a>, <a href="#10" class="mim-tip-reference" title="Hayette, S., Morle, L., Bozon, M., Ghanem, A., Risinger, M., Korsgren, C., Tanner, M. J. A., Fattoum, S., Cohen, C. M., Delaunay, J. <strong>A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.</strong> Brit. J. Haemat. 89: 762-770, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7772513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7772513</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1995.tb08413.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7772513">Hayette et al. (1995)</a> identified homozygosity for a mutation in the EPB42 gene (<a href="#0003">177070.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7772513+2386772" 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>The mouse 'pallid' mutation (see <a href="/entry/604310">604310</a>) produces defects in at least 3 subcellular organelles: platelet-dense granules, melanosomes, and kidney lysosomes. <a href="#21" class="mim-tip-reference" title="White, R. A., Peters, L. L., Adkison, L. R., Korsgren, C., Cohen, C. M., Lux, S. E. <strong>The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene.</strong> Nature Genet. 2: 80-83, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1284644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1284644</a>] [<a href="https://doi.org/10.1038/ng0992-80" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1284644">White et al. (1992)</a> noted that the mouse Epb42 gene mapped to the same region as the pallid mutation in the mouse. Prompted to examine the Epb42 gene in the pallid mouse, they found changes on Southern blot analysis suggesting a mutation; Northern blot analysis demonstrated smaller than normal Epb42 transcripts in affected pallid tissues, such as kidney and skin. However, <a href="#8" class="mim-tip-reference" title="Gwynn, B., Korsgren, C., Cohen, C. M., Ciciotte, S. L., Peters, L. L. <strong>The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid.</strong> Genomics 42: 532-535, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205130</a>] [<a href="https://doi.org/10.1006/geno.1997.4764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205130">Gwynn et al. (1997)</a> and <a href="#20" class="mim-tip-reference" title="White, R. A., Dowler, L. L., Hummel, G. S., Adkison, L. R. <strong>Exclusion of Epb4.2 as a candidate for the mouse mutant pallid.</strong> Mouse Genome 95: 492-494, 1997."None>White et al. (1997)</a> excluded Epb42 as a candidate for the mouse pallid mutation. On Northern blot analysis of normal and pallid mouse kidney, <a href="#8" class="mim-tip-reference" title="Gwynn, B., Korsgren, C., Cohen, C. M., Ciciotte, S. L., Peters, L. L. <strong>The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid.</strong> Genomics 42: 532-535, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205130</a>] [<a href="https://doi.org/10.1006/geno.1997.4764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205130">Gwynn et al. (1997)</a> observed that the truncated Epb42 protein comigrated with normal Epb42 protein. As the pallid mutation originally arose in a wild M. domesticus mouse, they concluded that the Epb42 protein characteristic of pallid is a normal polymorphism and that Epb42 and pallid are distinct loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9205130+1284644" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>5 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=177070[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs104894487 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894487;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs104894487?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs104894487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs104894487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014138 OR RCV003415697" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014138, RCV003415697" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014138...</a>
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<p>In 4 unrelated Japanese patients with spherocytosis (SPH5; <a href="/entry/612690">612690</a>), Bouhassira et al. (<a href="#3" class="mim-tip-reference" title="Bouhassira, E. E., Schwartz, R. S., Yawata, Y., Ata, K., Nagel, R. L., Rybicki, A. C. <strong>An alanine to threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia. (Abstract)</strong> Clin. Res. 39: 313A, 1991."None>1991</a>, <a href="#2" class="mim-tip-reference" title="Bouhassira, E. E., Schwartz, R. S., Yawata, Y., Ata, K., Kanzaki, A., Qui, J. J.-H., Nagel, R. L., Rybicki, A. C. <strong>An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2-Nippon).</strong> Blood 79: 1846-1854, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1558976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1558976</a>]" pmid="1558976">1992</a>) identified homozygosity for a G-to-A transition in the EPB42 gene, resulting in an ala142-to-thr (A142T) substitution. The abnormality in protein 4.2 results in abnormally shaped and osmotically fragile RBCs. The mutation occurred in an alternatively spliced exon that is present in 2 of 4 EPB42 mRNA splicing isoforms. Thus this is a recessive form of spherocytosis causing hereditary hemolytic anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1558976" 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="#11" class="mim-tip-reference" title="Iwamoto, S., Kajii, E., Omi, T., Kamesaki, T., Akifuji, Y., Ikemoto, S. <strong>Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency.</strong> Europ. J. Haemat. 50: 286-291, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8319790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8319790</a>] [<a href="https://doi.org/10.1111/j.1600-0609.1993.tb00164.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8319790">Iwamoto et al. (1993)</a> identified the same mutation in a 27-year-old Japanese female with acute hemolytic crisis and in her sister. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8319790" 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="#17" class="mim-tip-reference" title="Perrotta, S., Iolascon, A., Polito, R., d'Urzo, G., Conte, M. L., Miraglia del Giudice, E. <strong>4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. (Letter)</strong> Haematologica 84: 660-662, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406914</a>]" pmid="10406914">Perrotta et al. (1999)</a> described the 4.2-Nippon mutation in a 30-year-old female born in a small mountain village in central Italy. There was no Japanese ancestry. Splenomegaly and moderate hemolytic anemia were present from birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406914" 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>.0002 SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-LISBOA</strong>
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EPB42, 1-BP DEL, 264G
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs266257354 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs266257354;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs266257354?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs266257354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs266257354" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033190" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033190" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033190</a>
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<p><a href="#9" class="mim-tip-reference" title="Hayette, S., Dhermy, D., dos Santos, M.-E., Bozon, M., Drenckhahn, D., Alloisio, N., Texier, P., Delaunay, J., Morle, L. <strong>A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.</strong> Blood 85: 250-256, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7803799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7803799</a>]" pmid="7803799">Hayette et al. (1995)</a> identified a defect in the EPB42 gene in a 26-year-old Portuguese woman with recessively transmitted hereditary hemolytic anemia (SPH5; <a href="/entry/612690">612690</a>). Protein 4.2 was absent from red cell ghosts by Western blotting. Nucleotide sequencing disclosed deletion of a single nucleotide at position 264 (or 265): AAG GTG was changed to AAG TG in codon 88 (or 89) in exon 2. This change, defining allele 4.2 Lisboa, placed in frame the nonsense TGA triplet that normally overlaps codons 136 and 137 (GTG ACC). In effect, codon 89 was changed from GTG (val) to TGA (stop). The mutation was present in homozygous state in the proband and in heterozygous state in the parents and a brother. Apart from anemia, the patient was free of clinical manifestations. <a href="#9" class="mim-tip-reference" title="Hayette, S., Dhermy, D., dos Santos, M.-E., Bozon, M., Drenckhahn, D., Alloisio, N., Texier, P., Delaunay, J., Morle, L. <strong>A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.</strong> Blood 85: 250-256, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7803799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7803799</a>]" pmid="7803799">Hayette et al. (1995)</a> noted that in this case there were only a few spherocytes and only a limited decrease in the osmotic resistance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7803799" 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>.0003 SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-TOZEUR</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917734 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917734;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121917734?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121917734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121917734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014140" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014140" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014140</a>
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<p>Using high-sensitivity Western blot analysis, <a href="#10" class="mim-tip-reference" title="Hayette, S., Morle, L., Bozon, M., Ghanem, A., Risinger, M., Korsgren, C., Tanner, M. J. A., Fattoum, S., Cohen, C. M., Delaunay, J. <strong>A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.</strong> Brit. J. Haemat. 89: 762-770, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7772513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7772513</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1995.tb08413.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7772513">Hayette et al. (1995)</a> found that the Tunisian sibs with autosomal recessive hemolytic anemia (SPH5; <a href="/entry/612690">612690</a>) originally reported by <a href="#6" class="mim-tip-reference" title="Ghanem, A., Pothier, B., Marechal, J., Ducluzeau, M. T., Morle, L., Alloisio, N., Feo, C., Ben Abdeladhim, A., Fattoum, S., Delaunay, J. <strong>A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings.</strong> Brit. J. Haemat. 75: 414-420, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2386772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2386772</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1990.tb04357.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2386772">Ghanem et al. (1990)</a> had trace amounts of the EPB42 protein. They found that the sibs were homozygous for a G-to-A transition in exon 7 of the EPB42 gene, resulting in an arg310-to-gln (R310Q) substitution. The parents were heterozygous for the mutation, which was absent in 48 control chromosomes of Tunisian individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7772513+2386772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs266257355 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs266257355;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs266257355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs266257355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014141" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014141" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014141</a>
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<p>Protein 4.2 (Notame) was found in a 56-year-old Japanese man being investigated for chronic hyperbilirubinemia (<a href="#15" class="mim-tip-reference" title="Matsuda, M., Hatano, N., Ideguchi, H., Takahira, H., Fukumaki, Y. <strong>A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2-Notame).</strong> Hum. Molec. Genet. 4: 1187-1191, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8528207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8528207</a>] [<a href="https://doi.org/10.1093/hmg/4.7.1187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8528207">Matsuda et al., 1995</a>). He had mild splenomegaly and mild anemia with reticulocytosis as well as microspherocytosis (SPH5; <a href="/entry/612690">612690</a>). Erythrocyte osmotic fragility was remarkably increased. SDS-PAGE showed complete deficiency of protein 4.2. Direct sequencing and dot-blot hybridization with allele-specific oligonucleotide probes indicated that the man was a compound heterozygote for the A142T mutation (<a href="#0001">177070.0001</a>) and a single nucleotide substitution (G to A) in the first nucleotide of intron 6 of the EPB42 gene. RT-PCR analysis using total RNA isolated from reticulocytes of the proband showed that the intron 6 donor site mutation caused exon 6 to be spliced out with intron 6. The abnormal mRNA had a premature termination codon as a result of a frameshift, which precipitated instability of the protein that led to its degradation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8528207" 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>.0005 SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-HAMMERSMITH</strong>
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EPB42, 41-BP DEL, NT1709
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs115998465 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs115998465;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs115998465?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs115998465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs115998465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000014142" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014142" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014142</a>
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<p><a href="#4" class="mim-tip-reference" title="Bruce, L. J., Ghosh, S., King, M. J., Layton, D. M., Mawby, W. J., Stewart, G. W., Oldenborg, P.-A., Delaunay, J., Tanner, M. J. A. <strong>Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.</strong> Blood 100: 1878-1885, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12176912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12176912</a>] [<a href="https://doi.org/10.1182/blood-2002-03-0706" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12176912">Bruce et al. (2002)</a> presented data on a patient of Pakistani origin with recessive spherocytosis due to absence of protein 4.2 (SPH5; <a href="/entry/612690">612690</a>). EPB42 cDNA sequence analysis showed the presence of a 41-bp frameshift deletion in the 5-prime end of exon 11 of the EPB42 gene that produced a truncated peptide designated protein 4.2 Hammersmith. Quantitative RT-PCR indicated that the mutant mRNA was unstable. Sequencing of genomic DNA showed that the deletion stemmed from aberrant splicing. The proband was homozygous for a G-to-T substitution at position 1747 that activated a cryptic acceptor splice site within exon 11 of the EPB42 gene. The proband's mother was heterozygous for this substitution. Unlike protein 4.2-null mice, the proband's red cells showed no evidence of abnormal cation permeability. Quantitation of red cell membrane proteins showed that CD47 (<a href="/entry/601028">601028</a>) was markedly reduced to about 1% (in the proband) and 65% (in the mother) of that found in healthy controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12176912" 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="Azim1996" class="mim-anchor"></a>
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Azim, A. C., Marfatia, S. M., Korsgren, C., Dotimas, E., Cohen, C. M., Chishti, A. H.
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<strong>Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins.</strong>
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Biochemistry 35: 3001-3006, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8608138/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8608138</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8608138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1021/bi951745y" target="_blank">Full Text</a>]
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Bouhassira, E. E., Schwartz, R. S., Yawata, Y., Ata, K., Kanzaki, A., Qui, J. J.-H., Nagel, R. L., Rybicki, A. C.
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<strong>An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2-Nippon).</strong>
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Blood 79: 1846-1854, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1558976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1558976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1558976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bouhassira, E. E., Schwartz, R. S., Yawata, Y., Ata, K., Nagel, R. L., Rybicki, A. C.
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<strong>An alanine to threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia. (Abstract)</strong>
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Clin. Res. 39: 313A, 1991.
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Bruce, L. J., Ghosh, S., King, M. J., Layton, D. M., Mawby, W. J., Stewart, G. W., Oldenborg, P.-A., Delaunay, J., Tanner, M. J. A.
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<strong>Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.</strong>
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Blood 100: 1878-1885, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12176912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12176912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12176912" 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/10.1182/blood-2002-03-0706" target="_blank">Full Text</a>]
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Davies, K. A., Lux, S. E.
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<strong>Hereditary disorders of the red cell membrane skeleton.</strong>
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Trends Genet. 5: 222-227, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2675425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2675425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2675425" 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/10.1016/0168-9525(89)90086-3" target="_blank">Full Text</a>]
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Ghanem, A., Pothier, B., Marechal, J., Ducluzeau, M. T., Morle, L., Alloisio, N., Feo, C., Ben Abdeladhim, A., Fattoum, S., Delaunay, J.
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<strong>A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings.</strong>
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Brit. J. Haemat. 75: 414-420, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2386772/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2386772</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2386772" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1990.tb04357.x" target="_blank">Full Text</a>]
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Grenard, P., Bates, M. K., Aeschlimann, D.
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<strong>Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15: structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11390390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11390390</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11390390" 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/10.1074/jbc.M102553200" target="_blank">Full Text</a>]
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Gwynn, B., Korsgren, C., Cohen, C. M., Ciciotte, S. L., Peters, L. L.
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<strong>The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid.</strong>
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Genomics 42: 532-535, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1997.4764" target="_blank">Full Text</a>]
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Hayette, S., Dhermy, D., dos Santos, M.-E., Bozon, M., Drenckhahn, D., Alloisio, N., Texier, P., Delaunay, J., Morle, L.
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<strong>A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.</strong>
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Blood 85: 250-256, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7803799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7803799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7803799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hayette, S., Morle, L., Bozon, M., Ghanem, A., Risinger, M., Korsgren, C., Tanner, M. J. A., Fattoum, S., Cohen, C. M., Delaunay, J.
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<strong>A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.</strong>
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Brit. J. Haemat. 89: 762-770, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7772513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7772513</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7772513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1995.tb08413.x" target="_blank">Full Text</a>]
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Iwamoto, S., Kajii, E., Omi, T., Kamesaki, T., Akifuji, Y., Ikemoto, S.
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<strong>Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency.</strong>
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Europ. J. Haemat. 50: 286-291, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8319790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8319790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8319790" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1600-0609.1993.tb00164.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Korsgren1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Korsgren, C., Cohen, C. M.
|
|
<strong>Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the A subunit of factor XIII.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 4840-4844, 1991.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2052563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2052563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2052563" 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.88.11.4840" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Korsgren1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Korsgren, C., Cohen, C. M.
|
|
<strong>cDNA sequence, gene sequence, and properties of murine pallidin (band 4.2), the protein implicated in the murine pallid mutation.</strong>
|
|
Genomics 21: 478-485, 1994.
|
|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1304" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Korsgren1990" class="mim-anchor"></a>
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<div class="">
|
|
<p class="mim-text-font">
|
|
Korsgren, C., Lawler, J., Lambert, S., Speicher, D., Cohen, C. M.
|
|
<strong>Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 613-617, 1990.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2300550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2300550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2300550" 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.87.2.613" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Matsuda1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Matsuda, M., Hatano, N., Ideguchi, H., Takahira, H., Fukumaki, Y.
|
|
<strong>A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2-Notame).</strong>
|
|
Hum. Molec. Genet. 4: 1187-1191, 1995.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8528207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8528207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8528207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/4.7.1187" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Najfeld1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Najfeld, V., Ballard, S. G., Menninger, J., Ward, D. C., Bouhassira, E. E., Schwartz, R. S., Nagel, R. L., Rybicki, A. C.
|
|
<strong>The gene for human erythrocyte protein 4.2 maps to chromosome 15q15.</strong>
|
|
Am. J. Hum. Genet. 50: 71-75, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1729896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Perrotta1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perrotta, S., Iolascon, A., Polito, R., d'Urzo, G., Conte, M. L., Miraglia del Giudice, E.
|
|
<strong>4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. (Letter)</strong>
|
|
Haematologica 84: 660-662, 1999.
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|
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|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406914</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Sung1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sung, L. A., Chien, S., Chang, L.-S., Lambert, K., Bliss, S. A., Bouhassira, E. E., Nagel, R. L., Schwartz, R. S., Rybicki, A. C.
|
|
<strong>Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane.</strong>
|
|
Proc. Nat. Acad. Sci. 87: 955-959, 1990.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1689063/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1689063</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1689063" 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.87.3.955" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Sung1991" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
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Sung, L. A., Fan, Y. S., Lambert, K., Chien, S., Lin, C.
|
|
<strong>Mapping of gene for human erythrocyte protein 4.2 to chromosomal region 15q15-q21. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 1996, 1991.
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
|
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<a id="White1997" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
White, R. A., Dowler, L. L., Hummel, G. S., Adkison, L. R.
|
|
<strong>Exclusion of Epb4.2 as a candidate for the mouse mutant pallid.</strong>
|
|
Mouse Genome 95: 492-494, 1997.
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="White1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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White, R. A., Peters, L. L., Adkison, L. R., Korsgren, C., Cohen, C. M., Lux, S. E.
|
|
<strong>The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene.</strong>
|
|
Nature Genet. 2: 80-83, 1992.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1284644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1284644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1284644" 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/ng0992-80" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Carol A. Bocchini - updated : 3/24/2009
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Victor A. McKusick - updated : 10/16/2002<br>Patricia A. Hartz - updated : 3/25/2002<br>Victor A. McKusick - updated : 2/26/2001<br>Anne M. Lopez - updated : 11/23/1999
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
|
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<div class="row">
|
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
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<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 9/27/1989
|
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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carol : 08/02/2017
|
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</span>
|
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</div>
|
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</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 11/18/2015<br>carol : 3/25/2009<br>terry : 3/24/2009<br>carol : 3/24/2009<br>carol : 2/26/2009<br>carol : 9/9/2003<br>tkritzer : 11/1/2002<br>tkritzer : 10/22/2002<br>terry : 10/16/2002<br>carol : 3/25/2002<br>mcapotos : 3/6/2001<br>terry : 2/26/2001<br>carol : 11/23/1999<br>alopez : 11/23/1999<br>terry : 8/24/1998<br>mark : 9/1/1997<br>terry : 7/7/1997<br>carol : 10/4/1996<br>mark : 4/26/1996<br>terry : 4/24/1996<br>mark : 7/19/1995<br>mimadm : 2/25/1995<br>carol : 2/17/1995<br>jason : 7/1/1994<br>carol : 9/22/1993<br>carol : 3/2/1993
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 177070
|
|
</span>
|
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</h3>
|
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</div>
|
|
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<div>
|
|
<h3>
|
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<span class="mim-font">
|
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|
PROTEIN 4.2, ERYTHROCYTIC; EPB42
|
|
|
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</span>
|
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: EPB42</em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 15q15.2
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 15:43,197,227-43,225,737 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
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</div>
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<div>
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<br />
|
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
15q15.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Spherocytosis, type 5
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
612690
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
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|
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|
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</tbody>
|
|
</table>
|
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</div>
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</div>
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<div>
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<br />
|
|
</div>
|
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<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<span class="mim-text-font">
|
|
<p>Korsgren et al. (1990) cloned and sequenced protein band 4.2 from a human reticulocyte cDNA library. The deduced 691-amino acid band 4.2 protein has homology with 2 closely related calcium-dependent crosslinking proteins, guinea pig liver transglutaminase and the alpha subunit of human coagulation factor XIII (F13A1; 134570). Within the 5 contiguous consensus residues of the transglutaminase active site, band 4.2 has an amino acid substitution which leads to loss of transglutaminase activity. Sung et al. (1990) also cloned protein 4.2 and likewise found homology to the 2 transglutaminases, as well as the lack of the critical residue required for enzymatic crosslinking of substrates. </p><p>Korsgren and Cohen (1991) showed that reticulocytes contain 2 different sized EPB42 messages; the major, smaller, message is produced by alternative splicing. They found that the human and murine proteins share 72% sequence identity. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Korsgren and Cohen (1991) showed that the band 4.2 gene is about 20 kb long and contains 13 exons. Alignment of the band 4.2 amino acid sequence with that of F13A2 and division of the sequences into exons showed a remarkable correspondence, and in most cases identity, in the sizes of the paired exons. </p><p>Korsgren and Cohen (1994) found that the organization and size of the human and mouse EPB42 genes are identical. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Sung et al. (1991) mapped the EPB42 gene to 15q15-q21 by fluorescence in situ hybridization. Najfeld et al. (1992) assigned the gene to 15q15 by fluorescence in situ hybridization. White et al. (1992) mapped the Epb42 gene to mouse chromosome 2, which shares an extensive segment of syntenic homology with human chromosome 15. </p><p>By long-range genomic PCR, Grenard et al. (2001) mapped the EPB42 gene to a 100-kb region of 15q15.2, arranged in tandem with 2 other transglutaminase genes, TGM5 (603805) and TGM7 (606776). By radiation hybrid analysis, Grenard et al. (2001) mapped the mouse Epb42, Tgm5, and Tgm7 genes in close proximity on chromosome 2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the red cell membrane skeleton, protein 4.2 may regulate the association of protein 3 (109270) with ankyrin (612641) (Davies and Lux, 1989). </p><p>Azim et al. (1996) demonstrated that both protein 4.2 and dematin (125305) are ATP-binding proteins. </p><p>Bruce et al. (2002) observed that protein 4.2 and CD47 interact in the human red cell membrane, which provided further evidence for an association between the band 3 complex (which includes protein 4.2) and the Rh complex, and defined a point of attachment between the Rh complex and the red cell cytoskeleton. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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|
<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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|
<p>In 4 unrelated Japanese patients with autosomal recessive hereditary spherocytosis (SPH5; 612690), Bouhassira et al. (1991, 1992) identified homozygosity for a mutation in the EPB42 gene (177070.0001). </p><p>In a Portuguese woman with recessively transmitted hemolytic anemia, Hayette et al. (1995) identified a mutation in the EPB42 gene (177070.0002). </p><p>In Tunisian sibs with autosomal recessive hemolytic anemia reported by Ghanem et al. (1990), Hayette et al. (1995) identified homozygosity for a mutation in the EPB42 gene (177070.0003). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>The mouse 'pallid' mutation (see 604310) produces defects in at least 3 subcellular organelles: platelet-dense granules, melanosomes, and kidney lysosomes. White et al. (1992) noted that the mouse Epb42 gene mapped to the same region as the pallid mutation in the mouse. Prompted to examine the Epb42 gene in the pallid mouse, they found changes on Southern blot analysis suggesting a mutation; Northern blot analysis demonstrated smaller than normal Epb42 transcripts in affected pallid tissues, such as kidney and skin. However, Gwynn et al. (1997) and White et al. (1997) excluded Epb42 as a candidate for the mouse pallid mutation. On Northern blot analysis of normal and pallid mouse kidney, Gwynn et al. (1997) observed that the truncated Epb42 protein comigrated with normal Epb42 protein. As the pallid mutation originally arose in a wild M. domesticus mouse, they concluded that the Epb42 protein characteristic of pallid is a normal polymorphism and that Epb42 and pallid are distinct loci. </p>
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|
</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-NIPPON</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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EPB42, ALA142THR
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|
<br />
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|
|
|
SNP: rs104894487,
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|
|
gnomAD: rs104894487,
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|
|
|
|
|
ClinVar: RCV000014138, RCV003415697
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 4 unrelated Japanese patients with spherocytosis (SPH5; 612690), Bouhassira et al. (1991, 1992) identified homozygosity for a G-to-A transition in the EPB42 gene, resulting in an ala142-to-thr (A142T) substitution. The abnormality in protein 4.2 results in abnormally shaped and osmotically fragile RBCs. The mutation occurred in an alternatively spliced exon that is present in 2 of 4 EPB42 mRNA splicing isoforms. Thus this is a recessive form of spherocytosis causing hereditary hemolytic anemia. </p><p>Iwamoto et al. (1993) identified the same mutation in a 27-year-old Japanese female with acute hemolytic crisis and in her sister. </p><p>Perrotta et al. (1999) described the 4.2-Nippon mutation in a 30-year-old female born in a small mountain village in central Italy. There was no Japanese ancestry. Splenomegaly and moderate hemolytic anemia were present from birth. </p>
|
|
</span>
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</div>
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<div>
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|
<br />
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|
</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-LISBOA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
|
EPB42, 1-BP DEL, 264G
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|
<br />
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|
|
SNP: rs266257354,
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|
|
|
gnomAD: rs266257354,
|
|
|
|
|
|
ClinVar: RCV000033190
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Hayette et al. (1995) identified a defect in the EPB42 gene in a 26-year-old Portuguese woman with recessively transmitted hereditary hemolytic anemia (SPH5; 612690). Protein 4.2 was absent from red cell ghosts by Western blotting. Nucleotide sequencing disclosed deletion of a single nucleotide at position 264 (or 265): AAG GTG was changed to AAG TG in codon 88 (or 89) in exon 2. This change, defining allele 4.2 Lisboa, placed in frame the nonsense TGA triplet that normally overlaps codons 136 and 137 (GTG ACC). In effect, codon 89 was changed from GTG (val) to TGA (stop). The mutation was present in homozygous state in the proband and in heterozygous state in the parents and a brother. Apart from anemia, the patient was free of clinical manifestations. Hayette et al. (1995) noted that in this case there were only a few spherocytes and only a limited decrease in the osmotic resistance. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-TOZEUR</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPB42, ARG310GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121917734,
|
|
|
|
|
|
gnomAD: rs121917734,
|
|
|
|
|
|
ClinVar: RCV000014140
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using high-sensitivity Western blot analysis, Hayette et al. (1995) found that the Tunisian sibs with autosomal recessive hemolytic anemia (SPH5; 612690) originally reported by Ghanem et al. (1990) had trace amounts of the EPB42 protein. They found that the sibs were homozygous for a G-to-A transition in exon 7 of the EPB42 gene, resulting in an arg310-to-gln (R310Q) substitution. The parents were heterozygous for the mutation, which was absent in 48 control chromosomes of Tunisian individuals. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-NOTAME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPB42, IVS6DS, G-A, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs266257355,
|
|
|
|
|
|
|
|
ClinVar: RCV000014141
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Protein 4.2 (Notame) was found in a 56-year-old Japanese man being investigated for chronic hyperbilirubinemia (Matsuda et al., 1995). He had mild splenomegaly and mild anemia with reticulocytosis as well as microspherocytosis (SPH5; 612690). Erythrocyte osmotic fragility was remarkably increased. SDS-PAGE showed complete deficiency of protein 4.2. Direct sequencing and dot-blot hybridization with allele-specific oligonucleotide probes indicated that the man was a compound heterozygote for the A142T mutation (177070.0001) and a single nucleotide substitution (G to A) in the first nucleotide of intron 6 of the EPB42 gene. RT-PCR analysis using total RNA isolated from reticulocytes of the proband showed that the intron 6 donor site mutation caused exon 6 to be spliced out with intron 6. The abnormal mRNA had a premature termination codon as a result of a frameshift, which precipitated instability of the protein that led to its degradation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 SPHEROCYTOSIS, TYPE 5, DUE TO PROTEIN 4.2-HAMMERSMITH</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
EPB42, 41-BP DEL, NT1709
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs115998465,
|
|
|
|
|
|
gnomAD: rs115998465,
|
|
|
|
|
|
ClinVar: RCV000014142
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Bruce et al. (2002) presented data on a patient of Pakistani origin with recessive spherocytosis due to absence of protein 4.2 (SPH5; 612690). EPB42 cDNA sequence analysis showed the presence of a 41-bp frameshift deletion in the 5-prime end of exon 11 of the EPB42 gene that produced a truncated peptide designated protein 4.2 Hammersmith. Quantitative RT-PCR indicated that the mutant mRNA was unstable. Sequencing of genomic DNA showed that the deletion stemmed from aberrant splicing. The proband was homozygous for a G-to-T substitution at position 1747 that activated a cryptic acceptor splice site within exon 11 of the EPB42 gene. The proband's mother was heterozygous for this substitution. Unlike protein 4.2-null mice, the proband's red cells showed no evidence of abnormal cation permeability. Quantitation of red cell membrane proteins showed that CD47 (601028) was markedly reduced to about 1% (in the proband) and 65% (in the mother) of that found in healthy controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
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|
|
|
</div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Azim, A. C., Marfatia, S. M., Korsgren, C., Dotimas, E., Cohen, C. M., Chishti, A. H.
|
|
<strong>Human erythrocyte dematin and protein 4.2 (pallidin) are ATP binding proteins.</strong>
|
|
Biochemistry 35: 3001-3006, 1996.
|
|
|
|
|
|
[PubMed: 8608138]
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|
|
[Full Text: https://doi.org/10.1021/bi951745y]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bouhassira, E. E., Schwartz, R. S., Yawata, Y., Ata, K., Kanzaki, A., Qui, J. J.-H., Nagel, R. L., Rybicki, A. C.
|
|
<strong>An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2-Nippon).</strong>
|
|
Blood 79: 1846-1854, 1992.
|
|
|
|
|
|
[PubMed: 1558976]
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|
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Bouhassira, E. E., Schwartz, R. S., Yawata, Y., Ata, K., Nagel, R. L., Rybicki, A. C.
|
|
<strong>An alanine to threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia. (Abstract)</strong>
|
|
Clin. Res. 39: 313A, 1991.
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|
|
</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Bruce, L. J., Ghosh, S., King, M. J., Layton, D. M., Mawby, W. J., Stewart, G. W., Oldenborg, P.-A., Delaunay, J., Tanner, M. J. A.
|
|
<strong>Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex.</strong>
|
|
Blood 100: 1878-1885, 2002.
|
|
|
|
|
|
[PubMed: 12176912]
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|
|
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|
|
[Full Text: https://doi.org/10.1182/blood-2002-03-0706]
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</p>
|
|
</li>
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davies, K. A., Lux, S. E.
|
|
<strong>Hereditary disorders of the red cell membrane skeleton.</strong>
|
|
Trends Genet. 5: 222-227, 1989.
|
|
|
|
|
|
[PubMed: 2675425]
|
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|
|
|
[Full Text: https://doi.org/10.1016/0168-9525(89)90086-3]
|
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|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ghanem, A., Pothier, B., Marechal, J., Ducluzeau, M. T., Morle, L., Alloisio, N., Feo, C., Ben Abdeladhim, A., Fattoum, S., Delaunay, J.
|
|
<strong>A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings.</strong>
|
|
Brit. J. Haemat. 75: 414-420, 1990.
|
|
|
|
|
|
[PubMed: 2386772]
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|
|
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|
|
[Full Text: https://doi.org/10.1111/j.1365-2141.1990.tb04357.x]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Grenard, P., Bates, M. K., Aeschlimann, D.
|
|
<strong>Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15: structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z.</strong>
|
|
J. Biol. Chem. 276: 33066-33078, 2001.
|
|
|
|
|
|
[PubMed: 11390390]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M102553200]
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gwynn, B., Korsgren, C., Cohen, C. M., Ciciotte, S. L., Peters, L. L.
|
|
<strong>The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid.</strong>
|
|
Genomics 42: 532-535, 1997.
|
|
|
|
|
|
[PubMed: 9205130]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1997.4764]
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|
|
</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hayette, S., Dhermy, D., dos Santos, M.-E., Bozon, M., Drenckhahn, D., Alloisio, N., Texier, P., Delaunay, J., Morle, L.
|
|
<strong>A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.</strong>
|
|
Blood 85: 250-256, 1995.
|
|
|
|
|
|
[PubMed: 7803799]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
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<p class="mim-text-font">
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Hayette, S., Morle, L., Bozon, M., Ghanem, A., Risinger, M., Korsgren, C., Tanner, M. J. A., Fattoum, S., Cohen, C. M., Delaunay, J.
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<strong>A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.</strong>
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Brit. J. Haemat. 89: 762-770, 1995.
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[PubMed: 7772513]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1995.tb08413.x]
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Iwamoto, S., Kajii, E., Omi, T., Kamesaki, T., Akifuji, Y., Ikemoto, S.
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<strong>Point mutation in the band 4.2 gene associated with autosomal recessively inherited erythrocyte band 4.2 deficiency.</strong>
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Europ. J. Haemat. 50: 286-291, 1993.
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[PubMed: 8319790]
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[Full Text: https://doi.org/10.1111/j.1600-0609.1993.tb00164.x]
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<li>
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<p class="mim-text-font">
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Korsgren, C., Cohen, C. M.
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<strong>Organization of the gene for human erythrocyte membrane protein 4.2: structural similarities with the gene for the A subunit of factor XIII.</strong>
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Proc. Nat. Acad. Sci. 88: 4840-4844, 1991.
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[PubMed: 2052563]
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[Full Text: https://doi.org/10.1073/pnas.88.11.4840]
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Korsgren, C., Cohen, C. M.
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<strong>cDNA sequence, gene sequence, and properties of murine pallidin (band 4.2), the protein implicated in the murine pallid mutation.</strong>
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Genomics 21: 478-485, 1994.
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[PubMed: 7959722]
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[Full Text: https://doi.org/10.1006/geno.1994.1304]
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Korsgren, C., Lawler, J., Lambert, S., Speicher, D., Cohen, C. M.
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<strong>Complete amino acid sequence and homologies of human erythrocyte membrane protein band 4.2.</strong>
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Proc. Nat. Acad. Sci. 87: 613-617, 1990.
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[PubMed: 2300550]
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[Full Text: https://doi.org/10.1073/pnas.87.2.613]
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Matsuda, M., Hatano, N., Ideguchi, H., Takahira, H., Fukumaki, Y.
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<strong>A novel mutation causing an aberrant splicing in the protein 4.2 gene associated with hereditary spherocytosis (protein 4.2-Notame).</strong>
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Hum. Molec. Genet. 4: 1187-1191, 1995.
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[PubMed: 8528207]
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[Full Text: https://doi.org/10.1093/hmg/4.7.1187]
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Najfeld, V., Ballard, S. G., Menninger, J., Ward, D. C., Bouhassira, E. E., Schwartz, R. S., Nagel, R. L., Rybicki, A. C.
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<strong>The gene for human erythrocyte protein 4.2 maps to chromosome 15q15.</strong>
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Am. J. Hum. Genet. 50: 71-75, 1992.
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[PubMed: 1729896]
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Perrotta, S., Iolascon, A., Polito, R., d'Urzo, G., Conte, M. L., Miraglia del Giudice, E.
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<strong>4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis. (Letter)</strong>
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Haematologica 84: 660-662, 1999.
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[PubMed: 10406914]
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Sung, L. A., Chien, S., Chang, L.-S., Lambert, K., Bliss, S. A., Bouhassira, E. E., Nagel, R. L., Schwartz, R. S., Rybicki, A. C.
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<strong>Molecular cloning of human protein 4.2: a major component of the erythrocyte membrane.</strong>
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Proc. Nat. Acad. Sci. 87: 955-959, 1990.
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[PubMed: 1689063]
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[Full Text: https://doi.org/10.1073/pnas.87.3.955]
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Sung, L. A., Fan, Y. S., Lambert, K., Chien, S., Lin, C.
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<strong>Mapping of gene for human erythrocyte protein 4.2 to chromosomal region 15q15-q21. (Abstract)</strong>
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Cytogenet. Cell Genet. 58: 1996, 1991.
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White, R. A., Dowler, L. L., Hummel, G. S., Adkison, L. R.
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<strong>Exclusion of Epb4.2 as a candidate for the mouse mutant pallid.</strong>
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Mouse Genome 95: 492-494, 1997.
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</p>
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White, R. A., Peters, L. L., Adkison, L. R., Korsgren, C., Cohen, C. M., Lux, S. E.
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<strong>The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene.</strong>
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Nature Genet. 2: 80-83, 1992.
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[PubMed: 1284644]
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[Full Text: https://doi.org/10.1038/ng0992-80]
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Carol A. Bocchini - updated : 3/24/2009<br>Victor A. McKusick - updated : 10/16/2002<br>Patricia A. Hartz - updated : 3/25/2002<br>Victor A. McKusick - updated : 2/26/2001<br>Anne M. Lopez - updated : 11/23/1999
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Victor A. McKusick : 9/27/1989
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