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Entry
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- *118511 - CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7
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- OMIM
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<p>
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<span class="h4">*118511</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="#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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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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 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=ENSG00000175344;t=ENST00000306901" 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=1139" 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=118511" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000175344;t=ENST00000306901" 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_000746,NM_001190455,NR_046324,XM_011521176,XM_011521177,XM_011521178,XM_047432126,XM_047432127" 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_000746" 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=118511" 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=00339&isoform_id=00339_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/CHRNA7" 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/457737,496607,1458120,2506127,2808624,4502831,13345791,14573534,22902223,54606357,148743524,148743527,148743530,148743532,148743534,148743536,148743538,148743541,148743544,148743547,148743549,148743551,158257570,194376770,299116991,767983174,767983176,1034589590,2087947821,2217300025,2217300027,2462492707,2462492709,2462492711,2462492713,2462492715,2462498202,2462498204,2462498206,2462498208,2462498210,2462498658,2462498660,2462498662,2462498664,2462498666,2462498668,2462542633,2462542635,2462542637,2462542639,2462542641" 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/P36544" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=1139" 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=ENSG00000175344;t=ENST00000306901" 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=CHRNA7" 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=CHRNA7" 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+1139" 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/CHRNA7" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/1139" 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=ENST00000306901.9&hgg_start=32030483&hgg_end=32173018&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<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:1960" 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://search.clinicalgenome.org/kb/genes/HGNC:1960" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=118511[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel 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=118511[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/ENSG00000175344" 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=CHRNA7" 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=CHRNA7" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CHRNA7&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/PA114" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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<div class="panel 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:1960" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0028875.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:99779" 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/CHRNA7#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:99779" 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/1139/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=1139" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000046;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000046 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000048;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000048 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000049;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000049 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000050;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000050 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000053;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000053 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000054;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000054 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000055;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000055 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00000058;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00000058 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001133;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001133 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00043066;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00043066 </a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040108-3" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1139" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=CHRNA7&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<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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<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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118511
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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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CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-7 SUBUNIT
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</span>
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</h4>
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</div>
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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="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=CHRNA7" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CHRNA7</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/15/58?start=-3&limit=10&highlight=58">15q13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:32030483-32173018&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'})">15:32,030,483-32,173,018</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="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 id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#3" class="mim-tip-reference" title="Doucette-Stamm, L., Monteggia, L. M., Donnelly-Roberts, D., Wang, M. T., Lee, J., Tian, J., Giordano, T. <strong>Cloning and sequence of the human alpha-7 nicotinic acetylcholine receptor.</strong> Drug Dev. Res. 30: 252-256, 1993."None>Doucette-Stamm et al. (1993)</a> isolated the human alpha-7 subunit by screening a human fetal brain cDNA library with a rat alpha-7 probe. Independently, <a href="#8" class="mim-tip-reference" title="Peng, X., Katz, M., Gerzanich, V., Anand, R., Lindstrom, J. <strong>Human alpha-7 acetylcholine receptor: cloning of the alpha-7 subunit from the SH-SY5Y cell line and determination of pharmacological properties of native receptors and functional alpha-7 homomers expressed in Xenopus oocytes.</strong> Molec. Pharm. 45: 546-554, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8145738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8145738</a>]" pmid="8145738">Peng et al. (1994)</a> isolated an alpha-7 clone, and found that it was expressed as 3 mRNAs of 5.9, 2.6 and 1.3 kb on Northern blots of a neuroblastoma cell line. The human alpha-7 subunit assembled into functional homomers when expressed in Xenopus oocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8145738" 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="Chini, B., Raimond, E., Elgoyhen, A. B., Moralli, D., Balzaretti, M., Heinemann, S. <strong>Molecular cloning and chromosomal localization of the human alpha-7-nicotinic receptor subunit gene (CHRNA7).</strong> Genomics 19: 379-381, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188270</a>] [<a href="https://doi.org/10.1006/geno.1994.1075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188270">Chini et al. (1994)</a> isolated cDNA and genomic clones coding for the human alpha-7 neuronal nicotinic receptor subunit, the major component of brain nicotinic receptors that are blocked by alpha-bungarotoxin. The CHRNA7 cDNA encodes a mature protein of 479 amino acids that is highly homologous to the rat alpha-7 neuronal nicotinic subunit (90%). <a href="#4" class="mim-tip-reference" title="Elliott, K. J., Ellis, S. B., Berckhan, K. J., Urrutia, A., Chavez-Noriega, L. E., Johnson, E. C., Velicelebi, G., Harpold, M. M. <strong>Comparative structure of human neuronal alpha(2)-alpha(7) and beta(2)-beta(4) nicotinic acetylcholine receptor subunits and functional expression of the alpha(2), alpha(3), alpha(4), alpha(7), beta(2), and beta(4) subunits.</strong> J. Molec. Neurosci. 7: 217-228, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8906617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8906617</a>] [<a href="https://doi.org/10.1007/BF02736842" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8906617">Elliott et al. (1996)</a> and <a href="#6" class="mim-tip-reference" title="Groot Kormelink, P. J., Luyten, W. H. M. L. <strong>Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta-3 and beta-4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32.</strong> FEBS Lett. 400: 309-314, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9009220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9009220</a>] [<a href="https://doi.org/10.1016/s0014-5793(96)01383-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9009220">Groot Kormelink and Luyten (1997)</a> also cloned the alpha-7 gene and noted differences with the sequence reported by <a href="#8" class="mim-tip-reference" title="Peng, X., Katz, M., Gerzanich, V., Anand, R., Lindstrom, J. <strong>Human alpha-7 acetylcholine receptor: cloning of the alpha-7 subunit from the SH-SY5Y cell line and determination of pharmacological properties of native receptors and functional alpha-7 homomers expressed in Xenopus oocytes.</strong> Molec. Pharm. 45: 546-554, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8145738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8145738</a>]" pmid="8145738">Peng et al. (1994)</a>. By Northern blot analysis, <a href="#6" class="mim-tip-reference" title="Groot Kormelink, P. J., Luyten, W. H. M. L. <strong>Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta-3 and beta-4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32.</strong> FEBS Lett. 400: 309-314, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9009220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9009220</a>] [<a href="https://doi.org/10.1016/s0014-5793(96)01383-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9009220">Groot Kormelink and Luyten (1997)</a> found 3 alpha-7 mRNAs (5.7, 3.1 and 1.9 kb) expressed in a neuroblastoma cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8188270+8145738+8906617+9009220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Gault, J., Robinson, M., Berger, R., Drebing, C., Logel, J., Hopkins, J., Moore, T., Jacobs, S., Meriwether, J., Choi, M. J., Kim, E. J., Walton, K., Buiting, K., Davis, A., Breese, C., Freedman, R., Leonard, S. <strong>Genomic organization and partial duplication of the human alpha-7 neuronal nicotinic acetylcholine receptor gene (CHRNA7).</strong> Genomics 52: 173-185, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9782083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9782083</a>] [<a href="https://doi.org/10.1006/geno.1998.5363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9782083">Gault et al. (1998)</a> provided a diagram of the CHRNA7 protein structure. CHRNA7 has a signal peptide, followed by an N-terminal extracellular domain, 3 membrane-spanning regions, an intracellular domain, a fourth transmembrane region, and an extracellular C-terminal tail. The N-terminal domain has 3 glycosylation sites, and the intracellular domain has 3 putative phosphorylation sites. PCR amplification from normal human brain revealed 6 different CHRNA7 transcripts generated by alternative splicing of exons 3 through 5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9782083" 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 nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be (hetero)pentamers composed of homologous subunits. <a href="#3" class="mim-tip-reference" title="Doucette-Stamm, L., Monteggia, L. M., Donnelly-Roberts, D., Wang, M. T., Lee, J., Tian, J., Giordano, T. <strong>Cloning and sequence of the human alpha-7 nicotinic acetylcholine receptor.</strong> Drug Dev. Res. 30: 252-256, 1993."None>Doucette-Stamm et al. (1993)</a> stated that alpha-7, unlike other neuronal nAChR subunits, forms a homooligomeric channel, displays marked permeability to calcium ions, and is highly sensitive to alpha-bungarotoxin when expressed in Xenopus oocytes. See <a href="/entry/118508">118508</a> for additional background information on AChRs.</p><p>Excessive inflammation and tumor necrosis factor (TNF; <a href="/entry/191160">191160</a>) synthesis cause morbidity and mortality in diverse human diseases including endotoxemia, sepsis, rheumatoid arthritis (<a href="/entry/180300">180300</a>), and inflammatory bowel disease (see <a href="/entry/266600">266600</a>). Highly conserved, endogenous mechanisms normally regulate the magnitude of innate immune responses and prevent excessive inflammation. The nervous system, through the vagus nerve, can inhibit significantly and rapidly the release of macrophage TNF and attenuate systemic inflammatory responses. <a href="#9" class="mim-tip-reference" title="Wang, H., Yu, M., Ochani, M., Amella, C. A., Tanovic, M., Susarla, S., Li, J. H., Wang, H., Yang, H., Ulloa, L., Al-Abed, Y., Czura, C. J., Tracey, K. J. <strong>Nicotinic acetylcholine receptor alpha-7 subunit is an essential regulator of inflammation.</strong> Nature 421: 384-388, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12508119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12508119</a>] [<a href="https://doi.org/10.1038/nature01339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12508119">Wang et al. (2003)</a> demonstrated that the nicotinic acetylcholine receptor alpha-7 subunit is required for acetylcholine inhibition of macrophage TNF release. Electrical stimulation of the vagus nerve inhibited TNF synthesis in wildtype mice, but failed to inhibit TNF synthesis in alpha-7-deficient mice. Thus, <a href="#9" class="mim-tip-reference" title="Wang, H., Yu, M., Ochani, M., Amella, C. A., Tanovic, M., Susarla, S., Li, J. H., Wang, H., Yang, H., Ulloa, L., Al-Abed, Y., Czura, C. J., Tracey, K. J. <strong>Nicotinic acetylcholine receptor alpha-7 subunit is an essential regulator of inflammation.</strong> Nature 421: 384-388, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12508119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12508119</a>] [<a href="https://doi.org/10.1038/nature01339" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12508119">Wang et al. (2003)</a> concluded that the nicotinic acetylcholine receptor alpha-7 subunit is essential for inhibiting cytokine synthesis by the cholinergic antiinflammatory pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12508119" 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="#2" class="mim-tip-reference" title="Counts, S. E., He, B., Che, S., Ikonomovic, M. D., DeKosky, S. T., Ginsberg, S. D., Mufson, E. J. <strong>Alpha-7 nicotinic receptor up-regulation in cholinergic basal forebrain neurons in Alzheimer disease.</strong> Arch. Neurol. 64: 1771-1776, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18071042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18071042</a>] [<a href="https://doi.org/10.1001/archneur.64.12.1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18071042">Counts et al. (2007)</a> found a 60% increase in CHRNA7 mRNA levels in cholinergic neurons of the nucleus basalis in patients with mild to moderate Alzheimer disease (AD; <a href="/entry/104300">104300</a>) compared to those with mild cognitive impairment or normal controls. Expression levels of CHRNA7 were inversely associated with cognitive test scores. <a href="#2" class="mim-tip-reference" title="Counts, S. E., He, B., Che, S., Ikonomovic, M. D., DeKosky, S. T., Ginsberg, S. D., Mufson, E. J. <strong>Alpha-7 nicotinic receptor up-regulation in cholinergic basal forebrain neurons in Alzheimer disease.</strong> Arch. Neurol. 64: 1771-1776, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18071042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18071042</a>] [<a href="https://doi.org/10.1001/archneur.64.12.1771" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18071042">Counts et al. (2007)</a> suggested that upregulation of CHRNA7 receptors may be a compensatory response to maintain basocortical cholinergic activity during disease progression or may act with beta-amyloid (APP; <a href="/entry/104760">104760</a>) in disease pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18071042" 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="#5" class="mim-tip-reference" title="Gault, J., Robinson, M., Berger, R., Drebing, C., Logel, J., Hopkins, J., Moore, T., Jacobs, S., Meriwether, J., Choi, M. J., Kim, E. J., Walton, K., Buiting, K., Davis, A., Breese, C., Freedman, R., Leonard, S. <strong>Genomic organization and partial duplication of the human alpha-7 neuronal nicotinic acetylcholine receptor gene (CHRNA7).</strong> Genomics 52: 173-185, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9782083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9782083</a>] [<a href="https://doi.org/10.1006/geno.1998.5363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9782083">Gault et al. (1998)</a> determined that the CHRNA7 gene contains 10 exons and spans more than 75 kb. The 5-prime flanking region is 77% GC rich and lacks a consensus TATA box sequence. It has consensus binding sites for SP1 (<a href="/entry/189906">189906</a>), AP2 (see <a href="/entry/107580">107580</a>), EGR1 (<a href="/entry/128990">128990</a>), and CREB (CREB1; <a href="/entry/123810">123810</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9782083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#1" class="mim-tip-reference" title="Chini, B., Raimond, E., Elgoyhen, A. B., Moralli, D., Balzaretti, M., Heinemann, S. <strong>Molecular cloning and chromosomal localization of the human alpha-7-nicotinic receptor subunit gene (CHRNA7).</strong> Genomics 19: 379-381, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188270</a>] [<a href="https://doi.org/10.1006/geno.1994.1075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188270">Chini et al. (1994)</a> mapped the CHRNA7 gene to 15q14, a region frequently rearranged in patients carrying a bisatellite chromosome 15 with a large inverted duplication (<a href="#10" class="mim-tip-reference" title="Wisniewski, L., Hassold, T., Heffelfinger, J., Higgins, J. V. <strong>Cytogenetic and clinical studies in five cases of inv dup (15).</strong> Hum. Genet. 50: 259-270, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/489010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">489010</a>] [<a href="https://doi.org/10.1007/BF00399391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="489010">Wisniewski et al., 1979</a>). This chromosomal aberration is associated with mental retardation and with epileptic crises, which are sometimes resistant to therapy. Since the number of alpha-bungarotoxin binding sites, mainly composed of alpha-7 subunits, is related to seizure sensitivity in a mouse strain, <a href="#1" class="mim-tip-reference" title="Chini, B., Raimond, E., Elgoyhen, A. B., Moralli, D., Balzaretti, M., Heinemann, S. <strong>Molecular cloning and chromosomal localization of the human alpha-7-nicotinic receptor subunit gene (CHRNA7).</strong> Genomics 19: 379-381, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188270</a>] [<a href="https://doi.org/10.1006/geno.1994.1075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8188270">Chini et al. (1994)</a> suggested a role for the CHRNA7 gene in the epileptic seizures of these patients. Three other nicotinic receptor subunit genes are located on chromosome 15; the alpha-3 (CHRNA3; <a href="/entry/118503">118503</a>), alpha-5 (CHRNA5; <a href="/entry/118505">118505</a>), and beta-4 (CHRNB4; <a href="/entry/118509">118509</a>) genes are clustered on band 15q24. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8188270+489010" 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 fluorescence in situ hybridization, <a href="#7" class="mim-tip-reference" title="Orr-Urtreger, A., Seldin, M. F., Baldini, A., Beaudet, A. L. <strong>Cloning and mapping of the mouse alpha-7-neuronal nicotinic acetylcholine receptor.</strong> Genomics 26: 399-402, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601470</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80228-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7601470">Orr-Urtreger et al. (1995)</a> confirmed the assignment of this gene to 15q13-q14. They had previously mapped the mouse homolog (symbolized Acra7) to a homologous region on chromosome 7 by analyzing a panel of DNA samples from an interspecific backcross. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601470" 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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For discussion of a possible association between the CHRNA7 gene and susceptibility to schizophrenia, see SCZD13 (<a href="/entry/613025">613025</a>).</p><p><strong><em>Linkage to Epilepsy</em></strong></p><p>
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For discussion of a possible association between the CHRNA7 gene an epilepsy, see idiopathic generalized epilepsy 7 (EIG7; <a href="/entry/604827">604827</a>).</p><p>See also <a href="/entry/612001">612001</a> for a description of a 15q13.3 microdeletion syndrome, including the deletion of CHRNA7, associated with mental retardation and seizures.</p>
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<p>CHRNA7 has been implicated in various human psychiatric and behavioral disorders. Using 12 behavioral assessments and electroencephalogram recordings with freely-moving mice, <a href="#11" class="mim-tip-reference" title="Yin, J., Chen, W., Yang, H., Xue, M., Schaaf, C. P. <strong>Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.</strong> Sci. Rep. 7: 39941, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28045139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28045139</a>] [<a href="https://doi.org/10.1038/srep39941" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28045139">Yin et al. (2017)</a> found that loss of Chrna7 expression was not sufficient to cause statistically significant social, behavioral, or neuropsychiatric-like changes. <a href="#11" class="mim-tip-reference" title="Yin, J., Chen, W., Yang, H., Xue, M., Schaaf, C. P. <strong>Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.</strong> Sci. Rep. 7: 39941, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28045139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28045139</a>] [<a href="https://doi.org/10.1038/srep39941" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28045139">Yin et al. (2017)</a> also found no evidence for electrophysiologic phenotypic difference between Chrna7 -/- and wildtype mice. They concluded that knockout of Chrna7 in mice does not recapitulate phenotypes observed in humans with chromosome 15q13.3 microdeletion syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28045139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1001/archneur.64.12.1771" target="_blank">Full Text</a>]
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<strong>Comparative structure of human neuronal alpha(2)-alpha(7) and beta(2)-beta(4) nicotinic acetylcholine receptor subunits and functional expression of the alpha(2), alpha(3), alpha(4), alpha(7), beta(2), and beta(4) subunits.</strong>
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[<a href="https://doi.org/10.1007/BF02736842" target="_blank">Full Text</a>]
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Gault, J., Robinson, M., Berger, R., Drebing, C., Logel, J., Hopkins, J., Moore, T., Jacobs, S., Meriwether, J., Choi, M. J., Kim, E. J., Walton, K., Buiting, K., Davis, A., Breese, C., Freedman, R., Leonard, S.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9782083/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9782083</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9782083" 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.1998.5363" target="_blank">Full Text</a>]
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Groot Kormelink, P. J., Luyten, W. H. M. L.
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<strong>Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta-3 and beta-4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32.</strong>
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[<a href="https://doi.org/10.1016/s0014-5793(96)01383-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(95)80228-e" target="_blank">Full Text</a>]
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Wang, H., Yu, M., Ochani, M., Amella, C. A., Tanovic, M., Susarla, S., Li, J. H., Wang, H., Yang, H., Ulloa, L., Al-Abed, Y., Czura, C. J., Tracey, K. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12508119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12508119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12508119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Wisniewski, L., Hassold, T., Heffelfinger, J., Higgins, J. V.
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[<a href="https://doi.org/10.1007/BF00399391" target="_blank">Full Text</a>]
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Yin, J., Chen, W., Yang, H., Xue, M., Schaaf, C. P.
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<strong>Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.</strong>
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Sci. Rep. 7: 39941, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28045139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28045139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28045139" 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/srep39941" target="_blank">Full Text</a>]
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Patricia A. Hartz - updated : 08/16/2017
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Cassandra L. Kniffin - updated : 2/10/2009<br>Cassandra L. Kniffin - updated : 4/24/2008<br>Victor A. McKusick - updated : 4/9/2008<br>Patricia A. Hartz - updated : 12/7/2005<br>Ada Hamosh - updated : 2/3/2003<br>Rebekah S. Rasooly - updated : 4/27/1998<br>Victor A. McKusick - updated : 5/30/1997<br>Victor A. McKusick - updated : 2/12/1997
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Victor A. McKusick : 2/15/1994
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alopez : 08/16/2017<br>alopez : 12/22/2014<br>ckniffin : 9/24/2009<br>ckniffin : 9/21/2009<br>wwang : 2/24/2009<br>ckniffin : 2/10/2009<br>wwang : 5/20/2008<br>ckniffin : 4/24/2008<br>alopez : 4/22/2008<br>terry : 4/9/2008<br>mgross : 12/7/2005<br>mgross : 12/7/2005<br>mgross : 3/17/2004<br>alopez : 2/4/2003<br>terry : 2/3/2003<br>carol : 4/27/2000<br>dkim : 12/10/1998<br>alopez : 4/27/1998<br>alopez : 8/8/1997<br>jenny : 6/3/1997<br>terry : 5/30/1997<br>mark : 2/12/1997<br>terry : 2/6/1997<br>terry : 4/18/1995<br>carol : 2/15/1994
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<span class="mim-font">
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<strong>*</strong> 118511
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<h3>
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CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 7; CHRNA7
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-7 SUBUNIT
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: CHRNA7</em></strong>
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<strong>
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<em>
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Cytogenetic location: 15q13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:32,030,483-32,173,018 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<strong>Cloning and Expression</strong>
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<p>Doucette-Stamm et al. (1993) isolated the human alpha-7 subunit by screening a human fetal brain cDNA library with a rat alpha-7 probe. Independently, Peng et al. (1994) isolated an alpha-7 clone, and found that it was expressed as 3 mRNAs of 5.9, 2.6 and 1.3 kb on Northern blots of a neuroblastoma cell line. The human alpha-7 subunit assembled into functional homomers when expressed in Xenopus oocytes. </p><p>Chini et al. (1994) isolated cDNA and genomic clones coding for the human alpha-7 neuronal nicotinic receptor subunit, the major component of brain nicotinic receptors that are blocked by alpha-bungarotoxin. The CHRNA7 cDNA encodes a mature protein of 479 amino acids that is highly homologous to the rat alpha-7 neuronal nicotinic subunit (90%). Elliott et al. (1996) and Groot Kormelink and Luyten (1997) also cloned the alpha-7 gene and noted differences with the sequence reported by Peng et al. (1994). By Northern blot analysis, Groot Kormelink and Luyten (1997) found 3 alpha-7 mRNAs (5.7, 3.1 and 1.9 kb) expressed in a neuroblastoma cell line. </p><p>Gault et al. (1998) provided a diagram of the CHRNA7 protein structure. CHRNA7 has a signal peptide, followed by an N-terminal extracellular domain, 3 membrane-spanning regions, an intracellular domain, a fourth transmembrane region, and an extracellular C-terminal tail. The N-terminal domain has 3 glycosylation sites, and the intracellular domain has 3 putative phosphorylation sites. PCR amplification from normal human brain revealed 6 different CHRNA7 transcripts generated by alternative splicing of exons 3 through 5. </p>
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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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<p>The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be (hetero)pentamers composed of homologous subunits. Doucette-Stamm et al. (1993) stated that alpha-7, unlike other neuronal nAChR subunits, forms a homooligomeric channel, displays marked permeability to calcium ions, and is highly sensitive to alpha-bungarotoxin when expressed in Xenopus oocytes. See 118508 for additional background information on AChRs.</p><p>Excessive inflammation and tumor necrosis factor (TNF; 191160) synthesis cause morbidity and mortality in diverse human diseases including endotoxemia, sepsis, rheumatoid arthritis (180300), and inflammatory bowel disease (see 266600). Highly conserved, endogenous mechanisms normally regulate the magnitude of innate immune responses and prevent excessive inflammation. The nervous system, through the vagus nerve, can inhibit significantly and rapidly the release of macrophage TNF and attenuate systemic inflammatory responses. Wang et al. (2003) demonstrated that the nicotinic acetylcholine receptor alpha-7 subunit is required for acetylcholine inhibition of macrophage TNF release. Electrical stimulation of the vagus nerve inhibited TNF synthesis in wildtype mice, but failed to inhibit TNF synthesis in alpha-7-deficient mice. Thus, Wang et al. (2003) concluded that the nicotinic acetylcholine receptor alpha-7 subunit is essential for inhibiting cytokine synthesis by the cholinergic antiinflammatory pathway. </p><p>Counts et al. (2007) found a 60% increase in CHRNA7 mRNA levels in cholinergic neurons of the nucleus basalis in patients with mild to moderate Alzheimer disease (AD; 104300) compared to those with mild cognitive impairment or normal controls. Expression levels of CHRNA7 were inversely associated with cognitive test scores. Counts et al. (2007) suggested that upregulation of CHRNA7 receptors may be a compensatory response to maintain basocortical cholinergic activity during disease progression or may act with beta-amyloid (APP; 104760) in disease pathogenesis. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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<span class="mim-text-font">
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<p>Gault et al. (1998) determined that the CHRNA7 gene contains 10 exons and spans more than 75 kb. The 5-prime flanking region is 77% GC rich and lacks a consensus TATA box sequence. It has consensus binding sites for SP1 (189906), AP2 (see 107580), EGR1 (128990), and CREB (CREB1; 123810). </p>
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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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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Chini et al. (1994) mapped the CHRNA7 gene to 15q14, a region frequently rearranged in patients carrying a bisatellite chromosome 15 with a large inverted duplication (Wisniewski et al., 1979). This chromosomal aberration is associated with mental retardation and with epileptic crises, which are sometimes resistant to therapy. Since the number of alpha-bungarotoxin binding sites, mainly composed of alpha-7 subunits, is related to seizure sensitivity in a mouse strain, Chini et al. (1994) suggested a role for the CHRNA7 gene in the epileptic seizures of these patients. Three other nicotinic receptor subunit genes are located on chromosome 15; the alpha-3 (CHRNA3; 118503), alpha-5 (CHRNA5; 118505), and beta-4 (CHRNB4; 118509) genes are clustered on band 15q24. </p><p>By fluorescence in situ hybridization, Orr-Urtreger et al. (1995) confirmed the assignment of this gene to 15q13-q14. They had previously mapped the mouse homolog (symbolized Acra7) to a homologous region on chromosome 7 by analyzing a panel of DNA samples from an interspecific backcross. </p>
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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 class="mim-text-font">
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<p><strong><em>Linkage to Schizophrenia</em></strong></p><p>
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For discussion of a possible association between the CHRNA7 gene and susceptibility to schizophrenia, see SCZD13 (613025).</p><p><strong><em>Linkage to Epilepsy</em></strong></p><p>
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For discussion of a possible association between the CHRNA7 gene an epilepsy, see idiopathic generalized epilepsy 7 (EIG7; 604827).</p><p>See also 612001 for a description of a 15q13.3 microdeletion syndrome, including the deletion of CHRNA7, associated with mental retardation and seizures.</p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</h4>
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<span class="mim-text-font">
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<p>CHRNA7 has been implicated in various human psychiatric and behavioral disorders. Using 12 behavioral assessments and electroencephalogram recordings with freely-moving mice, Yin et al. (2017) found that loss of Chrna7 expression was not sufficient to cause statistically significant social, behavioral, or neuropsychiatric-like changes. Yin et al. (2017) also found no evidence for electrophysiologic phenotypic difference between Chrna7 -/- and wildtype mice. They concluded that knockout of Chrna7 in mice does not recapitulate phenotypes observed in humans with chromosome 15q13.3 microdeletion syndrome. </p>
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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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Chini, B., Raimond, E., Elgoyhen, A. B., Moralli, D., Balzaretti, M., Heinemann, S.
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<strong>Molecular cloning and chromosomal localization of the human alpha-7-nicotinic receptor subunit gene (CHRNA7).</strong>
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Genomics 19: 379-381, 1994.
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[PubMed: 8188270]
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[Full Text: https://doi.org/10.1006/geno.1994.1075]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Counts, S. E., He, B., Che, S., Ikonomovic, M. D., DeKosky, S. T., Ginsberg, S. D., Mufson, E. J.
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<strong>Alpha-7 nicotinic receptor up-regulation in cholinergic basal forebrain neurons in Alzheimer disease.</strong>
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Arch. Neurol. 64: 1771-1776, 2007.
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[PubMed: 18071042]
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[Full Text: https://doi.org/10.1001/archneur.64.12.1771]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Doucette-Stamm, L., Monteggia, L. M., Donnelly-Roberts, D., Wang, M. T., Lee, J., Tian, J., Giordano, T.
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<strong>Cloning and sequence of the human alpha-7 nicotinic acetylcholine receptor.</strong>
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Drug Dev. Res. 30: 252-256, 1993.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Elliott, K. J., Ellis, S. B., Berckhan, K. J., Urrutia, A., Chavez-Noriega, L. E., Johnson, E. C., Velicelebi, G., Harpold, M. M.
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<strong>Comparative structure of human neuronal alpha(2)-alpha(7) and beta(2)-beta(4) nicotinic acetylcholine receptor subunits and functional expression of the alpha(2), alpha(3), alpha(4), alpha(7), beta(2), and beta(4) subunits.</strong>
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J. Molec. Neurosci. 7: 217-228, 1996.
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[PubMed: 8906617]
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[Full Text: https://doi.org/10.1007/BF02736842]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gault, J., Robinson, M., Berger, R., Drebing, C., Logel, J., Hopkins, J., Moore, T., Jacobs, S., Meriwether, J., Choi, M. J., Kim, E. J., Walton, K., Buiting, K., Davis, A., Breese, C., Freedman, R., Leonard, S.
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<strong>Genomic organization and partial duplication of the human alpha-7 neuronal nicotinic acetylcholine receptor gene (CHRNA7).</strong>
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Genomics 52: 173-185, 1998.
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[PubMed: 9782083]
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[Full Text: https://doi.org/10.1006/geno.1998.5363]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Groot Kormelink, P. J., Luyten, W. H. M. L.
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<strong>Cloning and sequence of full-length cDNAs encoding the human neuronal nicotinic acetylcholine receptor (nAChR) subunits beta-3 and beta-4 and expression of seven nAChR subunits in the human neuroblastoma cell line SH-SY5Y and/or IMR-32.</strong>
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FEBS Lett. 400: 309-314, 1997.
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[PubMed: 9009220]
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[Full Text: https://doi.org/10.1016/s0014-5793(96)01383-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Orr-Urtreger, A., Seldin, M. F., Baldini, A., Beaudet, A. L.
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<strong>Cloning and mapping of the mouse alpha-7-neuronal nicotinic acetylcholine receptor.</strong>
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Genomics 26: 399-402, 1995.
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[PubMed: 7601470]
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[Full Text: https://doi.org/10.1016/0888-7543(95)80228-e]
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<li>
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<p class="mim-text-font">
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Peng, X., Katz, M., Gerzanich, V., Anand, R., Lindstrom, J.
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<strong>Human alpha-7 acetylcholine receptor: cloning of the alpha-7 subunit from the SH-SY5Y cell line and determination of pharmacological properties of native receptors and functional alpha-7 homomers expressed in Xenopus oocytes.</strong>
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Molec. Pharm. 45: 546-554, 1994.
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[PubMed: 8145738]
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</p>
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</li>
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<p class="mim-text-font">
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Wang, H., Yu, M., Ochani, M., Amella, C. A., Tanovic, M., Susarla, S., Li, J. H., Wang, H., Yang, H., Ulloa, L., Al-Abed, Y., Czura, C. J., Tracey, K. J.
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<strong>Nicotinic acetylcholine receptor alpha-7 subunit is an essential regulator of inflammation.</strong>
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Nature 421: 384-388, 2003.
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[PubMed: 12508119]
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[Full Text: https://doi.org/10.1038/nature01339]
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<li>
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<p class="mim-text-font">
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Wisniewski, L., Hassold, T., Heffelfinger, J., Higgins, J. V.
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<strong>Cytogenetic and clinical studies in five cases of inv dup (15).</strong>
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Hum. Genet. 50: 259-270, 1979.
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[PubMed: 489010]
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[Full Text: https://doi.org/10.1007/BF00399391]
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</li>
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<li>
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<p class="mim-text-font">
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Yin, J., Chen, W., Yang, H., Xue, M., Schaaf, C. P.
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<strong>Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes.</strong>
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Sci. Rep. 7: 39941, 2017. Note: Electronic Article.
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[PubMed: 28045139]
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[Full Text: https://doi.org/10.1038/srep39941]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 08/16/2017<br>Cassandra L. Kniffin - updated : 2/10/2009<br>Cassandra L. Kniffin - updated : 4/24/2008<br>Victor A. McKusick - updated : 4/9/2008<br>Patricia A. Hartz - updated : 12/7/2005<br>Ada Hamosh - updated : 2/3/2003<br>Rebekah S. Rasooly - updated : 4/27/1998<br>Victor A. McKusick - updated : 5/30/1997<br>Victor A. McKusick - updated : 2/12/1997
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 2/15/1994
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Edit History:
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carol : 02/19/2020<br>alopez : 08/16/2017<br>alopez : 12/22/2014<br>ckniffin : 9/24/2009<br>ckniffin : 9/21/2009<br>wwang : 2/24/2009<br>ckniffin : 2/10/2009<br>wwang : 5/20/2008<br>ckniffin : 4/24/2008<br>alopez : 4/22/2008<br>terry : 4/9/2008<br>mgross : 12/7/2005<br>mgross : 12/7/2005<br>mgross : 3/17/2004<br>alopez : 2/4/2003<br>terry : 2/3/2003<br>carol : 4/27/2000<br>dkim : 12/10/1998<br>alopez : 4/27/1998<br>alopez : 8/8/1997<br>jenny : 6/3/1997<br>terry : 5/30/1997<br>mark : 2/12/1997<br>terry : 2/6/1997<br>terry : 4/18/1995<br>carol : 2/15/1994
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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