2904 lines
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Entry
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- *614949 - TRANSMEMBRANE PROTEIN 231; TMEM231
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*614949</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</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="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/614949">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000205084;t=ENST00000258173" 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=79583" 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=614949" 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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</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=ENSG00000205084;t=ENST00000258173" 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_001077416,NM_001077418,NR_074083" 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_001077418" 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=614949" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/TMEM231" 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/10438446,14714906,37182346,39645476,74733611,116734685,117938783,119616038,119616039,119616040,158254398,193788453,221042484,443287671" 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/Q9H6L2" 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=79583" 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=ENSG00000205084;t=ENST00000258173" 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=TMEM231" 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=TMEM231" 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+79583" 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/TMEM231" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:79583" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/79583" 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=chr16&hgg_gene=ENST00000564489.1&hgg_start=75536741&hgg_end=75556286&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:37234" 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:37234" 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=614949[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=614949[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://www.deciphergenomics.org/gene/TMEM231/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000205084" 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=TMEM231" 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=TMEM231" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TMEM231" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TMEM231&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/PA165450754" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:37234" 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/FBgn0031707.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:2685024" 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/TMEM231#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:2685024" 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/79583/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=79583" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00020825;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1386" 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>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=TMEM231&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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614949
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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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TRANSMEMBRANE PROTEIN 231; TMEM231
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TMEM231" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TMEM231</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/16/652?start=-3&limit=10&highlight=652">16q23.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:75536741-75556286&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'})">16:75,536,741-75,556,286</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
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<a href="/clinicalSynopsis/table?mimNumber=614970,615397" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
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View Clinical Synopses
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</a>
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</span>
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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<a href="/geneMap/16/652?start=-3&limit=10&highlight=652">
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16q23.1
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Joubert syndrome 20
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/614970"> 614970 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Meckel syndrome 11
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615397"> 615397 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/614949" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/614949" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>TMEM231 is a critical component of a protein complex in the basal body, a ring-like structure that functions in the transition zone at the base of cilia. This complex acts as a barrier to restrict protein diffusion between plasma and ciliary membranes (<a href="#1" class="mim-tip-reference" title="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al. (2012)</a> cloned mouse Tmem231, which encodes a deduced 315-amino acid protein with both N-terminal and C-terminal transmembrane domains. Tmem231 localized to the base of cilia in mouse IMCD3 cells and embryonic fibroblasts. Database analysis revealed no orthologs of Tmem231 in C. elegans or Drosophila. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" 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>Using tandem affinity purification and mass spectrometry, <a href="#1" class="mim-tip-reference" title="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al. (2012)</a> identified Tmem231 as a component of a high molecular mass B9d1-containing ciliary complex in mouse cells. Besides B9d1 and Tmem231, other proteins detected within this complex included Tmem17 (<a href="/entry/614950">614950</a>), B9d2 (<a href="/entry/611951">611951</a>), Tctn1 (<a href="/entry/609863">609863</a>), Tctn2 (<a href="/entry/613846">613846</a>), Mks1 (<a href="/entry/609883">609883</a>), Ahi1 (<a href="/entry/608894">608894</a>), Cc2d2a (<a href="/entry/612013">612013</a>), and Kctd10 (<a href="/entry/613421">613421</a>). Knockdown of B9d1, Tmem231, Tmem17, or Cc2d2a via small interfering RNA had a modest effect on cilia formation, but significantly reduced the amount of the somatostatin receptor Sstr3 (<a href="/entry/182453">182453</a>) that localized to cilia. Knockdown of B9d1, Tmem231, Tmem17, or Cc2d2a also interfered with sonic hedgehog signaling (see SHH, <a href="/entry/600725">600725</a>) by preventing the movement of Smo (SMOH; <a href="/entry/601500">601500</a>) into the ciliary membrane. Knockout of B9d1 and Tmem231 resulted in delayed ciliogenesis and cilia growth due to absence of diffusion barrier formation. <a href="#1" class="mim-tip-reference" title="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al. (2012)</a> concluded that formation of a diffusion barrier by the B9d1 complex is required for the formation and retention of cilia components. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 11/27/2012."None>Hartz (2012)</a> mapped the TMEM231 gene to chromosome 16q23.1 based on an alignment of the TMEM231 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK057689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK057689</a>) with the genomic sequence (GRCh37).</p>
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<p><strong><em>Joubert Syndrome 20</em></strong></p><p>
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In 3 patients from 2 French Canadian families with Joubert syndrome-20, (JBTS20; <a href="/entry/614970">614970</a>), <a href="#4" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., Schwartzentruber, J. A., Patry, L., Ospina, L. H., Shevell, M. I., Desilets, V., Dobrzeniecka, S., Mathonnet, G., Lemyre, E., Massicotte, C., Labuda, D., Amrom, D., Andermann, E., Sebire, G., Maranda, B., FORGE Canada Consortium, Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in TMEM231 cause Joubert syndrome in French Canadians.</strong> J. Med. Genet. 49: 636-641, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23012439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23012439</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23012439">Srour et al. (2012)</a> identified compound heterozygosity for 2 mutations in the TMEM231 gene (<a href="#0001">614949.0001</a> and <a href="#0002">614949.0002</a>). The mutations were identified by exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23012439" 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><strong><em>Meckel Syndrome, Type 11</em></strong></p><p>
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In a patient, born of consanguineous Arab parents, with Meckel syndrome type 11 (MKS11; <a href="/entry/615397">615397</a>), <a href="#3" class="mim-tip-reference" title="Shaheen, R., Ansari, S., Al Mardawi, E., Alshammari, M. J., Alkuraya, F. S. <strong>Mutations in TMEM231 cause Meckel-Gruber syndrome.</strong> J. Med. Genet. 50: 160-162, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23349226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23349226</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23349226">Shaheen et al. (2013)</a> identified a homozygous mutation in the TMEM231 gene (<a href="#0003">614949.0003</a>). An unrelated Arab patient with the disorder carried a different homozygous mutation (<a href="#0004">614949.0004</a>). The findings indicated that TMEM231 mutations can cause variable ciliopathy phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23349226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al. (2012)</a> found that knockout of B9d1 or Tmem231 in mice led to lethality around embryonic day 15.5 with severe vascular defects. The phenotypes of B9d1 -/- and Tmem231 -/- mice were indistinguishable and showed signs of disrupted Shh signaling, including microphthalmia and polydactyly, and defects in patterning of the ventral spinal cord, consistent with a ciliopathy. Both B9d1 -/- and Tmem231 -/- embryos showed loss of cilia and altered Shh gene expression, including absence of Shh-positive floorplate cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514609 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514609;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397514609?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 patients from 2 French Canadian families with Joubert syndrome-20 (JBTS20; <a href="/entry/614970">614970</a>), <a href="#4" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., Schwartzentruber, J. A., Patry, L., Ospina, L. H., Shevell, M. I., Desilets, V., Dobrzeniecka, S., Mathonnet, G., Lemyre, E., Massicotte, C., Labuda, D., Amrom, D., Andermann, E., Sebire, G., Maranda, B., FORGE Canada Consortium, Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in TMEM231 cause Joubert syndrome in French Canadians.</strong> J. Med. Genet. 49: 636-641, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23012439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23012439</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23012439">Srour et al. (2012)</a> identified compound heterozygosity for 2 mutations in the TMEM231 gene: a 12T-A transversion in exon 1, resulting in a tyr4-to-ter (Y4X) substitution, and a 625G-A transition resulting in an asp209-to-asn (D209N; <a href="#0002">614949.0002</a>) substitution at a highly conserved residue. The Y4X leads to a nonsense mutation in the canonical isoform and 2 other predicted isoforms of TMEM231, whereas it abolishes the translation initiation methionine in a longer isoform. The D209N variant was seen in 1 of 416 French Canadian controls and in 0.01% of several large databases. Each unaffected parent was heterozygous for 1 of the mutations. Haplotype analysis of both variants suggested a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23012439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs200799769 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs200799769;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs200799769?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs200799769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs200799769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000033042 OR RCV000255979 OR RCV000543480 OR RCV002513311 OR RCV003155046 OR RCV004755755" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000033042, RCV000255979, RCV000543480, RCV002513311, RCV003155046, RCV004755755" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000033042...</a>
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<p>For discussion of the asp209-to-asn (D209N) mutation in the TMEM231 gene that was found in compound heterozygous state in patients with Joubert syndrome-20 (JBTS20; <a href="/entry/614970">614970</a>) by <a href="#4" class="mim-tip-reference" title="Srour, M., Hamdan, F. F., Schwartzentruber, J. A., Patry, L., Ospina, L. H., Shevell, M. I., Desilets, V., Dobrzeniecka, S., Mathonnet, G., Lemyre, E., Massicotte, C., Labuda, D., Amrom, D., Andermann, E., Sebire, G., Maranda, B., FORGE Canada Consortium, Rouleau, G. A., Majewski, J., Michaud, J. L. <strong>Mutations in TMEM231 cause Joubert syndrome in French Canadians.</strong> J. Med. Genet. 49: 636-641, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23012439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23012439</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101132" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23012439">Srour et al. (2012)</a>, see <a href="#0001">614949.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23012439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 MECKEL SYNDROME, TYPE 11</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs397514753 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514753;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs397514753?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054806 OR RCV000162154 OR RCV001781386 OR RCV003764728 OR RCV003915018 OR RCV003987343" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054806, RCV000162154, RCV001781386, RCV003764728, RCV003915018, RCV003987343" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054806...</a>
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<p>In a patient, born of consanguineous Arab parents, with Meckel syndrome type 11 (MKS11; <a href="/entry/615397">615397</a>), <a href="#3" class="mim-tip-reference" title="Shaheen, R., Ansari, S., Al Mardawi, E., Alshammari, M. J., Alkuraya, F. S. <strong>Mutations in TMEM231 cause Meckel-Gruber syndrome.</strong> J. Med. Genet. 50: 160-162, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23349226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23349226</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23349226">Shaheen et al. (2013)</a> identified a homozygous c.751G-A transition in the last nucleotide of exon 4 of the TMEM231 gene. The mutation was found by exome sequencing of the proband and was not found in several large control databases. Analysis of lymphoblastoid cell lines from the unaffected parents showed that the mutation resulted in a splicing defect and 2 aberrant TMEM231 transcripts: 1 that retained 47 bp from intron 4 (10%) and another that retained 11 bp from intron 4 (5%). Both aberrant transcripts were predicted to result in a frameshift and premature termination (Val251SerfsTer21 and Val251SerfsTer9, respectively). Further analysis indicated that the mutation resulted in nonsense-mediated mRNA decay. Meckel syndrome was diagnosed prenatally by the presence of oligohydramnios, occipital encephalocele, polydactyly, and polycystic kidneys. Therapeutic termination was performed; a previous fetus was similarly affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23349226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 MECKEL SYNDROME, TYPE 11</strong>
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TMEM231, GLN301PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs397514754 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397514754;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs397514754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs397514754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000054807 OR RCV003387749" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000054807, RCV003387749" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000054807...</a>
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<span class="mim-text-font">
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<p>In an Arab patient with Meckel syndrome type 11 (MKS11; <a href="/entry/615397">615397</a>), <a href="#3" class="mim-tip-reference" title="Shaheen, R., Ansari, S., Al Mardawi, E., Alshammari, M. J., Alkuraya, F. S. <strong>Mutations in TMEM231 cause Meckel-Gruber syndrome.</strong> J. Med. Genet. 50: 160-162, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23349226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23349226</a>] [<a href="https://doi.org/10.1136/jmedgenet-2012-101431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23349226">Shaheen et al. (2013)</a> identified a homozygous c.902A-C transversion in the TMEM231 gene, resulting in a gln301-to-pro (Q301P) substitution at a highly conserved residue. The mutation was not found in 200 control Saudi exomes. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23349226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chih2012" class="mim-anchor"></a>
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Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S.
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<strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong>
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Nature Cell Biol. 14: 61-72, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" 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/ncb2410" target="_blank">Full Text</a>]
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/27/2012.
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Shaheen, R., Ansari, S., Al Mardawi, E., Alshammari, M. J., Alkuraya, F. S.
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<strong>Mutations in TMEM231 cause Meckel-Gruber syndrome.</strong>
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J. Med. Genet. 50: 160-162, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23349226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23349226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23349226" 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/10.1136/jmedgenet-2012-101431" target="_blank">Full Text</a>]
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Srour, M., Hamdan, F. F., Schwartzentruber, J. A., Patry, L., Ospina, L. H., Shevell, M. I., Desilets, V., Dobrzeniecka, S., Mathonnet, G., Lemyre, E., Massicotte, C., Labuda, D., Amrom, D., Andermann, E., Sebire, G., Maranda, B., FORGE Canada Consortium, Rouleau, G. A., Majewski, J., Michaud, J. L.
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<strong>Mutations in TMEM231 cause Joubert syndrome in French Canadians.</strong>
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J. Med. Genet. 49: 636-641, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23012439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23012439</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23012439" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Cassandra L. Kniffin - updated : 9/4/2013
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Patricia A. Hartz : 11/27/2012
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mcolton : 5/15/2015<br>carol : 9/5/2013<br>ckniffin : 9/4/2013<br>carol : 12/6/2012<br>ckniffin : 12/5/2012<br>alopez : 11/27/2012
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 614949
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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TRANSMEMBRANE PROTEIN 231; TMEM231
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TMEM231</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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<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: 16q23.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:75,536,741-75,556,286 </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>
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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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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16q23.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Joubert syndrome 20
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
614970
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal recessive
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
|
<span class="mim-font">
|
|
Meckel syndrome 11
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|
</span>
|
|
</td>
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<td>
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<span class="mim-font">
|
|
615397
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
|
|
3
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</span>
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</td>
|
|
</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>TMEM231 is a critical component of a protein complex in the basal body, a ring-like structure that functions in the transition zone at the base of cilia. This complex acts as a barrier to restrict protein diffusion between plasma and ciliary membranes (Chih et al., 2012). </p>
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</span>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Chih et al. (2012) cloned mouse Tmem231, which encodes a deduced 315-amino acid protein with both N-terminal and C-terminal transmembrane domains. Tmem231 localized to the base of cilia in mouse IMCD3 cells and embryonic fibroblasts. Database analysis revealed no orthologs of Tmem231 in C. elegans or Drosophila. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Using tandem affinity purification and mass spectrometry, Chih et al. (2012) identified Tmem231 as a component of a high molecular mass B9d1-containing ciliary complex in mouse cells. Besides B9d1 and Tmem231, other proteins detected within this complex included Tmem17 (614950), B9d2 (611951), Tctn1 (609863), Tctn2 (613846), Mks1 (609883), Ahi1 (608894), Cc2d2a (612013), and Kctd10 (613421). Knockdown of B9d1, Tmem231, Tmem17, or Cc2d2a via small interfering RNA had a modest effect on cilia formation, but significantly reduced the amount of the somatostatin receptor Sstr3 (182453) that localized to cilia. Knockdown of B9d1, Tmem231, Tmem17, or Cc2d2a also interfered with sonic hedgehog signaling (see SHH, 600725) by preventing the movement of Smo (SMOH; 601500) into the ciliary membrane. Knockout of B9d1 and Tmem231 resulted in delayed ciliogenesis and cilia growth due to absence of diffusion barrier formation. Chih et al. (2012) concluded that formation of a diffusion barrier by the B9d1 complex is required for the formation and retention of cilia components. </p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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|
|
<span class="mim-text-font">
|
|
<p>Hartz (2012) mapped the TMEM231 gene to chromosome 16q23.1 based on an alignment of the TMEM231 sequence (GenBank AK057689) with the genomic sequence (GRCh37).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
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|
|
<span class="mim-text-font">
|
|
<p><strong><em>Joubert Syndrome 20</em></strong></p><p>
|
|
In 3 patients from 2 French Canadian families with Joubert syndrome-20, (JBTS20; 614970), Srour et al. (2012) identified compound heterozygosity for 2 mutations in the TMEM231 gene (614949.0001 and 614949.0002). The mutations were identified by exome sequencing and confirmed by Sanger sequencing. </p><p><strong><em>Meckel Syndrome, Type 11</em></strong></p><p>
|
|
In a patient, born of consanguineous Arab parents, with Meckel syndrome type 11 (MKS11; 615397), Shaheen et al. (2013) identified a homozygous mutation in the TMEM231 gene (614949.0003). An unrelated Arab patient with the disorder carried a different homozygous mutation (614949.0004). The findings indicated that TMEM231 mutations can cause variable ciliopathy phenotypes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Chih et al. (2012) found that knockout of B9d1 or Tmem231 in mice led to lethality around embryonic day 15.5 with severe vascular defects. The phenotypes of B9d1 -/- and Tmem231 -/- mice were indistinguishable and showed signs of disrupted Shh signaling, including microphthalmia and polydactyly, and defects in patterning of the ventral spinal cord, consistent with a ciliopathy. Both B9d1 -/- and Tmem231 -/- embryos showed loss of cilia and altered Shh gene expression, including absence of Shh-positive floorplate cells. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
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|
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|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 JOUBERT SYNDROME 20</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TMEM231, TYR4TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs397514609,
|
|
|
|
|
|
gnomAD: rs397514609,
|
|
|
|
|
|
ClinVar: RCV000033041, RCV001778672, RCV002513310
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 patients from 2 French Canadian families with Joubert syndrome-20 (JBTS20; 614970), Srour et al. (2012) identified compound heterozygosity for 2 mutations in the TMEM231 gene: a 12T-A transversion in exon 1, resulting in a tyr4-to-ter (Y4X) substitution, and a 625G-A transition resulting in an asp209-to-asn (D209N; 614949.0002) substitution at a highly conserved residue. The Y4X leads to a nonsense mutation in the canonical isoform and 2 other predicted isoforms of TMEM231, whereas it abolishes the translation initiation methionine in a longer isoform. The D209N variant was seen in 1 of 416 French Canadian controls and in 0.01% of several large databases. Each unaffected parent was heterozygous for 1 of the mutations. Haplotype analysis of both variants suggested a founder effect. </p>
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 JOUBERT SYNDROME 20</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
TMEM231, ASP209ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs200799769,
|
|
|
|
|
|
gnomAD: rs200799769,
|
|
|
|
|
|
ClinVar: RCV000033042, RCV000255979, RCV000543480, RCV002513311, RCV003155046, RCV004755755
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the asp209-to-asn (D209N) mutation in the TMEM231 gene that was found in compound heterozygous state in patients with Joubert syndrome-20 (JBTS20; 614970) by Srour et al. (2012), see 614949.0001. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 MECKEL SYNDROME, TYPE 11</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
TMEM231, 751G-A
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|
|
<br />
|
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|
|
SNP: rs397514753,
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|
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gnomAD: rs397514753,
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|
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ClinVar: RCV000054806, RCV000162154, RCV001781386, RCV003764728, RCV003915018, RCV003987343
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|
|
|
</span>
|
|
</div>
|
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient, born of consanguineous Arab parents, with Meckel syndrome type 11 (MKS11; 615397), Shaheen et al. (2013) identified a homozygous c.751G-A transition in the last nucleotide of exon 4 of the TMEM231 gene. The mutation was found by exome sequencing of the proband and was not found in several large control databases. Analysis of lymphoblastoid cell lines from the unaffected parents showed that the mutation resulted in a splicing defect and 2 aberrant TMEM231 transcripts: 1 that retained 47 bp from intron 4 (10%) and another that retained 11 bp from intron 4 (5%). Both aberrant transcripts were predicted to result in a frameshift and premature termination (Val251SerfsTer21 and Val251SerfsTer9, respectively). Further analysis indicated that the mutation resulted in nonsense-mediated mRNA decay. Meckel syndrome was diagnosed prenatally by the presence of oligohydramnios, occipital encephalocele, polydactyly, and polycystic kidneys. Therapeutic termination was performed; a previous fetus was similarly affected. </p>
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</span>
|
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</div>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 MECKEL SYNDROME, TYPE 11</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
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TMEM231, GLN301PRO
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<br />
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|
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SNP: rs397514754,
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|
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ClinVar: RCV000054807, RCV003387749
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|
|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Arab patient with Meckel syndrome type 11 (MKS11; 615397), Shaheen et al. (2013) identified a homozygous c.902A-C transversion in the TMEM231 gene, resulting in a gln301-to-pro (Q301P) substitution at a highly conserved residue. The mutation was not found in 200 control Saudi exomes. Functional studies of the variant were not performed. </p>
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</span>
|
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</div>
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<div>
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<br />
|
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</div>
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</div>
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</div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S.
|
|
<strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong>
|
|
Nature Cell Biol. 14: 61-72, 2012.
|
|
|
|
|
|
[PubMed: 22179047]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ncb2410]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 11/27/2012.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shaheen, R., Ansari, S., Al Mardawi, E., Alshammari, M. J., Alkuraya, F. S.
|
|
<strong>Mutations in TMEM231 cause Meckel-Gruber syndrome.</strong>
|
|
J. Med. Genet. 50: 160-162, 2013.
|
|
|
|
|
|
[PubMed: 23349226]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2012-101431]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Srour, M., Hamdan, F. F., Schwartzentruber, J. A., Patry, L., Ospina, L. H., Shevell, M. I., Desilets, V., Dobrzeniecka, S., Mathonnet, G., Lemyre, E., Massicotte, C., Labuda, D., Amrom, D., Andermann, E., Sebire, G., Maranda, B., FORGE Canada Consortium, Rouleau, G. A., Majewski, J., Michaud, J. L.
|
|
<strong>Mutations in TMEM231 cause Joubert syndrome in French Canadians.</strong>
|
|
J. Med. Genet. 49: 636-641, 2012.
|
|
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|
|
[PubMed: 23012439]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmedgenet-2012-101132]
|
|
|
|
|
|
</p>
|
|
</li>
|
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|
|
</ol>
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<div>
|
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<br />
|
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</div>
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</div>
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</div>
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<div>
|
|
<div class="row">
|
|
<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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Cassandra L. Kniffin - updated : 9/4/2013<br>Cassandra L. Kniffin - updated : 12/5/2012
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carol : 05/21/2015<br>mcolton : 5/15/2015<br>carol : 9/5/2013<br>ckniffin : 9/4/2013<br>carol : 12/6/2012<br>ckniffin : 12/5/2012<br>alopez : 11/27/2012
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