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Entry
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- *300393 - G PROTEIN-COUPLED RECEPTOR 101; GPR101
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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">*300393</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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<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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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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/300393">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 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="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div 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=ENSG00000165370;t=ENST00000651716" 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=83550" 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=300393" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000165370;t=ENST00000651716" 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_054021" 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_054021" 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=300393" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02315&isoform_id=02315_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/GPR101" 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/16566341,16876435,20152240,21929156,47479646,48474929,119608856" 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/Q96P66" 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=83550" 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=ENSG00000165370;t=ENST00000651716" 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=GPR101" 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=GPR101" 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+83550" 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/GPR101" 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:83550" 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/83550" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chrX&hgg_gene=ENST00000651716.2&hgg_start=137023929&hgg_end=137033995&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://medlineplus.gov/genetics/gene/gpr101" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=300393[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>
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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=300393[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000165370" 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=GPR101" 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=GPR101" 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=GPR101" 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="http://www.LOVD.nl/GPR101" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=GPR101&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/PA28849" 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:14963" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2685211" 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/GPR101#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:2685211" 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/83550/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=83550" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070914-1" 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=GPR101&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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300393
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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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G PROTEIN-COUPLED RECEPTOR 101; GPR101
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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GPCR101
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<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=GPR101" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GPR101</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/X/727?start=-3&limit=10&highlight=727">Xq26.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:137023929-137033995&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">X:137,023,929-137,033,995</a> </span>
|
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/X/727?start=-3&limit=10&highlight=727">
|
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Xq26.3
|
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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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Pituitary adenoma 2, GH-secreting
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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/300943"> 300943 </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="X-linked">XL</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">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/300393" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300393" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>G protein-coupled receptors (GPCRs, or GPRs), such as GPR101, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (<a href="#7" class="mim-tip-reference" title="Lee, D. K., Nguyen, T., Lynch, K. R., Cheng, R., Vanti, W. B., Arkhitko, O., Lewis, T., Evans, J. F., George, S. R., O'Dowd, B. F. <strong>Discovery and mapping of ten novel G protein-coupled receptor genes.</strong> Gene 275: 83-91, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11574155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11574155</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00651-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11574155">Lee et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11574155" 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="#7" class="mim-tip-reference" title="Lee, D. K., Nguyen, T., Lynch, K. R., Cheng, R., Vanti, W. B., Arkhitko, O., Lewis, T., Evans, J. F., George, S. R., O'Dowd, B. F. <strong>Discovery and mapping of ten novel G protein-coupled receptor genes.</strong> Gene 275: 83-91, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11574155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11574155</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00651-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11574155">Lee et al. (2001)</a> identified GPR101 within a genomic database using sequences of the histamine receptor H1 (<a href="/entry/600167">600167</a>) as query. PCR primers were designed to amplify and clone GPR101 from a genomic library. Full-length GPR101 encodes a deduced 508-amino acid protein that shares approximately 30% sequence identity in the transmembrane regions with the G protein-coupled receptor RE2, the serotonin 5HT1A receptor (HTR1A; <a href="/entry/109760">109760</a>), and the alpha-1A-adrenergic receptor (<a href="/entry/104221">104221</a>). Northern blot analysis of human brain tissues revealed expression of 9.5- and 4.2-kb transcripts in the caudate putamen and hypothalamus. No expression was detected in cortex, thalamus, hippocampus and pons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11574155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Bates, B., Zhang, L., Nawoschik, S., Kodangattil, S., Tseng, E., Kopsco, D., Kramer, A., Shan, Q., Taylor, N., Johnson, J., Sun, Y., Chen, H. M., Blatcher, M., Paulsen, J. E., Pausch, M. H. <strong>Characterization of Gpr101 expression and G-protein coupling selectivity.</strong> Brain Res. 1087: 1-14, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16647048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16647048</a>] [<a href="https://doi.org/10.1016/j.brainres.2006.02.123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16647048">Bates et al. (2006)</a> cloned mouse Gpr101 from a brain cDNA library. The deduced 511-amino acid protein shares 71% identity with human GPR101. Northern blot analysis detected an approximately 5.5-kb transcript in brain, with little to no expression in 7 other mouse tissues examined. Gpr101 was variably expressed in all mouse brain regions examined, with highest expression in hypothalamus and lowest expression in cerebral cortex. In situ hybridization of mouse brain sections detected Gpr101 in numerous limbic, autonomic, and sensory areas and nuclei, with most prominent expression restricted to a few nuclei. In spinal cord, Gpr101 expression was detected in superficial layers of the dorsal horn and surrounding central canal in lamina X. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16647048" 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>Using Hi-C to characterize the chromatin structure at the XLAG (<a href="/entry/300942">300942</a>) locus, <a href="#3" class="mim-tip-reference" title="Franke, M., Daly, A. F., Palmeira, L., Tirosh, A., Stigliano, A., Trifan, E., Faucz, F. R., Abboud, D., Petrossians, P., Tena, J. J., Vitali, E., Lania, A. G., Gomez-Skarmeta, J. L., Beckers, A., Stratakis, C. A., Trivellin, G. <strong>Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.</strong> Am. J. Hum. Genet. 109: 553-570, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35202564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35202564</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35202564">Franke et al. (2022)</a> showed that the GPR101 gene is located in a discrete topologically associated domain (TAD), which is separated from centromeric genes and regulatory sequences by a TAD border. <a href="#3" class="mim-tip-reference" title="Franke, M., Daly, A. F., Palmeira, L., Tirosh, A., Stigliano, A., Trifan, E., Faucz, F. R., Abboud, D., Petrossians, P., Tena, J. J., Vitali, E., Lania, A. G., Gomez-Skarmeta, J. L., Beckers, A., Stratakis, C. A., Trivellin, G. <strong>Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.</strong> Am. J. Hum. Genet. 109: 553-570, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35202564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35202564</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35202564">Franke et al. (2022)</a> determined that this structural organization was maintained in 21 different human tissues and in mice, showing that the organization is tissue invariant and evolutionarily conserved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35202564" 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 a reporter gene assay, <a href="#1" class="mim-tip-reference" title="Bates, B., Zhang, L., Nawoschik, S., Kodangattil, S., Tseng, E., Kopsco, D., Kramer, A., Shan, Q., Taylor, N., Johnson, J., Sun, Y., Chen, H. M., Blatcher, M., Paulsen, J. E., Pausch, M. H. <strong>Characterization of Gpr101 expression and G-protein coupling selectivity.</strong> Brain Res. 1087: 1-14, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16647048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16647048</a>] [<a href="https://doi.org/10.1016/j.brainres.2006.02.123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16647048">Bates et al. (2006)</a> determined that human GPR101 was coupled to Gs (see <a href="/entry/139320">139320</a>). Expression of GPR101 in HEK293 cells resulted in a dose-dependent elevation in reporter activity and intracellular cAMP. In a yeast system, overexpression of GPR101 resulted in agonist-independent reporter activation in the presence of a yeast chimeric Gs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16647048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Nilaweera, K. N., Wilson, D., Bell, L., Mercer, J. G., Morgan, P. J., Barrett, P. <strong>G protein-coupled receptor 101 mRNA expression in supraoptic and paraventricular nuclei in rat hypothalamus is altered by pregnancy and lactation.</strong> Brain Res. 1193: 76-83, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187126</a>] [<a href="https://doi.org/10.1016/j.brainres.2007.11.048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187126">Nilaweera et al. (2008)</a> had previously found that expression of Gpcr101 increased in the posterior hypothalamus in mice deprived of food, and that it decreased with obesity. <a href="#8" class="mim-tip-reference" title="Nilaweera, K. N., Wilson, D., Bell, L., Mercer, J. G., Morgan, P. J., Barrett, P. <strong>G protein-coupled receptor 101 mRNA expression in supraoptic and paraventricular nuclei in rat hypothalamus is altered by pregnancy and lactation.</strong> Brain Res. 1193: 76-83, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187126</a>] [<a href="https://doi.org/10.1016/j.brainres.2007.11.048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18187126">Nilaweera et al. (2008)</a> found that, during pregnancy and lactation in rat, Gpcr101 expression did not significantly change in most hypothalamic nuclei. However, Gpcr101 expression increased significantly in supraoptic nucleus and in the rostral ventromedial parvocellular subdivision of the paraventricular nucleus at late stages of pregnancy and remained high during lactation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18187126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a> showed that GPR101 encodes an orphan G protein-coupled receptor that is highly expressed in rodent hypothalamus and is predicted to couple to the stimulatory G protein (Gs), a potent activator of adenylyl cyclase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25470569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#10" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a> constructed a structural model of GPR101 in complex with a Gs heterotrimer. The E308D mutation (<a href="#0001">300393.0001</a>) is on the cytosolic side of the receptor that interacts with heterotrimeric G proteins. Residue E308 is located in the long intracellular loop 3, which connects transmembrane domains 5 and 6. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25470569" 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="#7" class="mim-tip-reference" title="Lee, D. K., Nguyen, T., Lynch, K. R., Cheng, R., Vanti, W. B., Arkhitko, O., Lewis, T., Evans, J. F., George, S. R., O'Dowd, B. F. <strong>Discovery and mapping of ten novel G protein-coupled receptor genes.</strong> Gene 275: 83-91, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11574155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11574155</a>] [<a href="https://doi.org/10.1016/s0378-1119(01)00651-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11574155">Lee et al. (2001)</a> mapped the GPR101 gene to the X chromosome based on sequence similarity between the GPR101 sequence and a genomic clone (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AL390879" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AL390879</a>) localized to the X chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11574155" 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>Using FISH, <a href="#1" class="mim-tip-reference" title="Bates, B., Zhang, L., Nawoschik, S., Kodangattil, S., Tseng, E., Kopsco, D., Kramer, A., Shan, Q., Taylor, N., Johnson, J., Sun, Y., Chen, H. M., Blatcher, M., Paulsen, J. E., Pausch, M. H. <strong>Characterization of Gpr101 expression and G-protein coupling selectivity.</strong> Brain Res. 1087: 1-14, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16647048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16647048</a>] [<a href="https://doi.org/10.1016/j.brainres.2006.02.123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16647048">Bates et al. (2006)</a> mapped the human GPR101 gene to chromosome Xq26-q27. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16647048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 12/30/2014."None>Hartz (2014)</a> mapped the GPR101 gene to chromosome Xq26.3 based on an alignment of the GPR101 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC069439" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC069439</a>) with the genomic sequence (GRCh38).</p><p><a href="#1" class="mim-tip-reference" title="Bates, B., Zhang, L., Nawoschik, S., Kodangattil, S., Tseng, E., Kopsco, D., Kramer, A., Shan, Q., Taylor, N., Johnson, J., Sun, Y., Chen, H. M., Blatcher, M., Paulsen, J. E., Pausch, M. H. <strong>Characterization of Gpr101 expression and G-protein coupling selectivity.</strong> Brain Res. 1087: 1-14, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16647048/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16647048</a>] [<a href="https://doi.org/10.1016/j.brainres.2006.02.123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16647048">Bates et al. (2006)</a> mapped the mouse Gpr101 gene to chromosome XA5, where it lies in a region of conserved synteny with human chromosome Xq26-q27. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16647048" 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="#10" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a> identified a recurrent GPR101 mutation (E308D; <a href="#0001">300393.0001</a>) in 4.4% of DNA from tumor samples and in 1.8% of DNA from peripheral blood mononuclear cell (PBMC) samples obtained from patients with sporadic acromegaly (<a href="/entry/300943">300943</a>). <a href="#10" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a> did not find GPR101 mutations in families with isolated familial pituitary adenomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25470569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with sporadic acromegaly, <a href="#6" class="mim-tip-reference" title="Kamenicky, P., Bouligand, J., Chanson, P. <strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong> New Eng. J. Med. 372: 1264 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25806920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25806920</a>] [<a href="https://doi.org/10.1056/NEJMc1500340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25806920">Kamenicky et al. (2015)</a> identified a novel germline mutation in the GPR101 gene (D366E; <a href="#0002">300393.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25806920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernandez-Ramirez, L. C., Kapur, S., Caimari, F., Evanson, J., Ferrau, F., Dang, M. N., Gabrovska, P., and 23 others. <strong>Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</strong> Acta Neuropath. Commun. 4: 56, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27245663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27245663</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27245663[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s40478-016-0328-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27245663">Iacovazzo et al. (2016)</a> sequenced DNA from 579 acromegaly patients and identified 4 patients (0.69%) with a germline E308D mutation in the GPR101 gene. No other rare or novel coding variants were detected, and the authors suggested that GPR101 variants do not occur frequently and might not play a significant role in the pathogenesis of acromegaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27245663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Franke, M., Daly, A. F., Palmeira, L., Tirosh, A., Stigliano, A., Trifan, E., Faucz, F. R., Abboud, D., Petrossians, P., Tena, J. J., Vitali, E., Lania, A. G., Gomez-Skarmeta, J. L., Beckers, A., Stratakis, C. A., Trivellin, G. <strong>Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.</strong> Am. J. Hum. Genet. 109: 553-570, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35202564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35202564</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35202564">Franke et al. (2022)</a> compared differentially expressed genes between tumors from 4 individuals with XLAG and normal pituitary tissue from 3 control individuals and identified GPR101 as the most significantly dysregulated gene, with a greater than 12 log2-fold increase in expression in the tumors. <a href="#3" class="mim-tip-reference" title="Franke, M., Daly, A. F., Palmeira, L., Tirosh, A., Stigliano, A., Trifan, E., Faucz, F. R., Abboud, D., Petrossians, P., Tena, J. J., Vitali, E., Lania, A. G., Gomez-Skarmeta, J. L., Beckers, A., Stratakis, C. A., Trivellin, G. <strong>Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.</strong> Am. J. Hum. Genet. 109: 553-570, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35202564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35202564</a>] [<a href="https://doi.org/10.1016/j.ajhg.2022.02.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35202564">Franke et al. (2022)</a> then evaluated the organization of the topologically associated domain (TAD) that contains the GPR101 gene in PBMCs from patients with XLAG using 4C seq analysis. The Xq23.3 duplication in patients with XLAG was found to result in altered chromatin confirmation, which permits new interactions between the GPR101 promoter and centromeric regulatory enhancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35202564" 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> rs73637412 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs73637412;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/rs73637412?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=rs73637412" 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=rs73637412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 11 of 248 patients with acromegaly and growth hormone-producing adenomas (PITA2; <a href="/entry/300943">300943</a>), <a href="#10" class="mim-tip-reference" title="Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others. <strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong> New Eng. J. Med. 371: 2363-2374, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa1408028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25470569">Trivellin et al. (2014)</a> identified a c.924G-C transversion in the GPR101 gene, resulting in a glu308-to-asp (E308D) substitution. In 3 mutation carriers, the mutation appeared to be a germline event, as the mutation was detected in peripheral blood. In 8 patients, the mutation was only seen in tumor DNA, and in 1 patient, it was confirmed as a de novo somatic mutation, as it was not found in peripheral blood. This mutation was not found in 7,600 control samples from public databases. Transfection of a construct expressing GPR101 containing the E308D mutation increased proliferation and growth hormone secretion in a rat pituitary cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25470569" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Roohi, J. <strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong> New Eng. J. Med. 372: 1264-1265, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25806921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25806921</a>] [<a href="https://doi.org/10.1056/NEJMc1500340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25806921">Roohi (2015)</a> reported that the E308D mutation in GPR101 shows an allele frequency of 0.55% among Europeans in the ExAC database and 0.36% among the total cohort of 61,500 unrelated individuals. Given the frequency of the variant, <a href="#9" class="mim-tip-reference" title="Roohi, J. <strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong> New Eng. J. Med. 372: 1264-1265, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25806921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25806921</a>] [<a href="https://doi.org/10.1056/NEJMc1500340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25806921">Roohi (2015)</a> urged caution in interpreting it as a disease-associated variant. <a href="#2" class="mim-tip-reference" title="Daly, A. F., Trivellin, G., Stratakis, C. A. <strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong> New Eng. J. Med. 372: 1265 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25806919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25806919</a>] [<a href="https://doi.org/10.1056/NEJMc1500340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25806919">Daly et al. (2015)</a> responded that the SNP <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs73637412;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs73637412</a> describes both E308D (c.924G-C) and its synonymous counterpart, c.924G-A. The synonymous variant is reported at a lower frequency in the ExAC database than in other databases, suggesting discrepancies in variant calling. <a href="#2" class="mim-tip-reference" title="Daly, A. F., Trivellin, G., Stratakis, C. A. <strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong> New Eng. J. Med. 372: 1265 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25806919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25806919</a>] [<a href="https://doi.org/10.1056/NEJMc1500340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25806919">Daly et al. (2015)</a> pointed out that the presence of the E308D variant in pituitary tumors, as well as constitutively, supports a gain of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25806919+25806921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernandez-Ramirez, L. C., Kapur, S., Caimari, F., Evanson, J., Ferrau, F., Dang, M. N., Gabrovska, P., and 23 others. <strong>Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</strong> Acta Neuropath. Commun. 4: 56, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27245663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27245663</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27245663[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s40478-016-0328-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27245663">Iacovazzo et al. (2016)</a> sequenced DNA from 579 acromegaly patients and identified 4 patients with a germline E308D mutation in the GPR101 gene, none of whom had a family history of pituitary adenoma. The authors noted that the allele frequency of the E308D variant in this series, 0.45%, was similar to that reported in the ExAC database (0.37%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27245663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with adult-onset sporadic acromegaly and invasive macroadenoma (PITA2; <a href="/entry/300943">300943</a>), <a href="#6" class="mim-tip-reference" title="Kamenicky, P., Bouligand, J., Chanson, P. <strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong> New Eng. J. Med. 372: 1264 only, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25806920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25806920</a>] [<a href="https://doi.org/10.1056/NEJMc1500340" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25806920">Kamenicky et al. (2015)</a> identified a germline asp366-to-glu (D366E) mutation in the GPR101 gene. The mutation was not reported in the Exome Aggregation Consortium, 1000 Genomes Project, dbSNP, or Exome Variant Server databases. The D366E mutation is located in intracellular loop 3 of the GPR101 protein. No functional studies were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25806920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1016/j.brainres.2006.02.123" target="_blank">Full Text</a>]
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<a id="Daly2015" class="mim-anchor"></a>
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Daly, A. F., Trivellin, G., Stratakis, C. A.
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<strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25806919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25806919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25806919" 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/10.1056/NEJMc1500340" target="_blank">Full Text</a>]
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<a id="Franke2022" class="mim-anchor"></a>
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Franke, M., Daly, A. F., Palmeira, L., Tirosh, A., Stigliano, A., Trifan, E., Faucz, F. R., Abboud, D., Petrossians, P., Tena, J. J., Vitali, E., Lania, A. G., Gomez-Skarmeta, J. L., Beckers, A., Stratakis, C. A., Trivellin, G.
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<strong>Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.</strong>
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Am. J. Hum. Genet. 109: 553-570, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35202564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35202564</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35202564" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2022.02.002" 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. 12/30/2014.
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Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernandez-Ramirez, L. C., Kapur, S., Caimari, F., Evanson, J., Ferrau, F., Dang, M. N., Gabrovska, P., and 23 others.
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<strong>Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</strong>
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Acta Neuropath. Commun. 4: 56, 2016. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27245663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27245663</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27245663[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27245663" 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/10.1186/s40478-016-0328-1" target="_blank">Full Text</a>]
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Kamenicky, P., Bouligand, J., Chanson, P.
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<strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong>
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New Eng. J. Med. 372: 1264 only, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25806920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25806920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25806920" 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/10.1056/NEJMc1500340" target="_blank">Full Text</a>]
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Lee, D. K., Nguyen, T., Lynch, K. R., Cheng, R., Vanti, W. B., Arkhitko, O., Lewis, T., Evans, J. F., George, S. R., O'Dowd, B. F.
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Gene 275: 83-91, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11574155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11574155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11574155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0378-1119(01)00651-5" target="_blank">Full Text</a>]
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Nilaweera, K. N., Wilson, D., Bell, L., Mercer, J. G., Morgan, P. J., Barrett, P.
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<strong>G protein-coupled receptor 101 mRNA expression in supraoptic and paraventricular nuclei in rat hypothalamus is altered by pregnancy and lactation.</strong>
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Brain Res. 1193: 76-83, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18187126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18187126</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18187126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.brainres.2007.11.048" target="_blank">Full Text</a>]
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Roohi, J.
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<strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong>
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New Eng. J. Med. 372: 1264-1265, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25806921/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25806921</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25806921" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others.
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<strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong>
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New Eng. J. Med. 371: 2363-2374, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25470569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25470569</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25470569[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25470569" 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/10.1056/NEJMoa1408028" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 06/20/2022
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Marla J. F. O'Neill - updated : 07/09/2018<br>Ada Hamosh - updated : 6/4/2015<br>Ada Hamosh - updated : 1/27/2015<br>Patricia A. Hartz - updated : 12/30/2014
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Patricia A. Hartz : 5/9/2002
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alopez : 07/09/2018<br>carol : 09/26/2017<br>alopez : 09/22/2016<br>alopez : 06/10/2016<br>alopez : 6/4/2015<br>carol : 4/9/2015<br>alopez : 4/3/2015<br>alopez : 4/3/2015<br>alopez : 1/27/2015<br>mgross : 1/8/2015<br>mcolton : 12/30/2014<br>carol : 10/28/2005<br>carol : 5/9/2002<br>carol : 5/9/2002
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<strong>
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<em>
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Cytogenetic location: Xq26.3
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Genomic coordinates <span class="small">(GRCh38)</span> : X:137,023,929-137,033,995 </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>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
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<th>
|
|
Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
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</th>
|
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<th>
|
|
Inheritance
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</th>
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|
<th>
|
|
Phenotype <br /> mapping key
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|
</th>
|
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</tr>
|
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</thead>
|
|
<tbody>
|
|
|
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<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
Xq26.3
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Pituitary adenoma 2, GH-secreting
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
300943
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
X-linked
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|
</span>
|
|
</td>
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<td>
|
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<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
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|
|
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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">
|
|
<strong>TEXT</strong>
|
|
</span>
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>G protein-coupled receptors (GPCRs, or GPRs), such as GPR101, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins (Lee et al., 2001). </p>
|
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</span>
|
|
<div>
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|
<br />
|
|
</div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
<span class="mim-text-font">
|
|
<p>Lee et al. (2001) identified GPR101 within a genomic database using sequences of the histamine receptor H1 (600167) as query. PCR primers were designed to amplify and clone GPR101 from a genomic library. Full-length GPR101 encodes a deduced 508-amino acid protein that shares approximately 30% sequence identity in the transmembrane regions with the G protein-coupled receptor RE2, the serotonin 5HT1A receptor (HTR1A; 109760), and the alpha-1A-adrenergic receptor (104221). Northern blot analysis of human brain tissues revealed expression of 9.5- and 4.2-kb transcripts in the caudate putamen and hypothalamus. No expression was detected in cortex, thalamus, hippocampus and pons. </p><p>Bates et al. (2006) cloned mouse Gpr101 from a brain cDNA library. The deduced 511-amino acid protein shares 71% identity with human GPR101. Northern blot analysis detected an approximately 5.5-kb transcript in brain, with little to no expression in 7 other mouse tissues examined. Gpr101 was variably expressed in all mouse brain regions examined, with highest expression in hypothalamus and lowest expression in cerebral cortex. In situ hybridization of mouse brain sections detected Gpr101 in numerous limbic, autonomic, and sensory areas and nuclei, with most prominent expression restricted to a few nuclei. In spinal cord, Gpr101 expression was detected in superficial layers of the dorsal horn and surrounding central canal in lamina X. </p><p>Using Hi-C to characterize the chromatin structure at the XLAG (300942) locus, Franke et al. (2022) showed that the GPR101 gene is located in a discrete topologically associated domain (TAD), which is separated from centromeric genes and regulatory sequences by a TAD border. Franke et al. (2022) determined that this structural organization was maintained in 21 different human tissues and in mice, showing that the organization is tissue invariant and evolutionarily conserved. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using a reporter gene assay, Bates et al. (2006) determined that human GPR101 was coupled to Gs (see 139320). Expression of GPR101 in HEK293 cells resulted in a dose-dependent elevation in reporter activity and intracellular cAMP. In a yeast system, overexpression of GPR101 resulted in agonist-independent reporter activation in the presence of a yeast chimeric Gs. </p><p>Nilaweera et al. (2008) had previously found that expression of Gpcr101 increased in the posterior hypothalamus in mice deprived of food, and that it decreased with obesity. Nilaweera et al. (2008) found that, during pregnancy and lactation in rat, Gpcr101 expression did not significantly change in most hypothalamic nuclei. However, Gpcr101 expression increased significantly in supraoptic nucleus and in the rostral ventromedial parvocellular subdivision of the paraventricular nucleus at late stages of pregnancy and remained high during lactation. </p><p>Trivellin et al. (2014) showed that GPR101 encodes an orphan G protein-coupled receptor that is highly expressed in rodent hypothalamus and is predicted to couple to the stimulatory G protein (Gs), a potent activator of adenylyl cyclase. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Protein Structure</em></strong></p><p>
|
|
Trivellin et al. (2014) constructed a structural model of GPR101 in complex with a Gs heterotrimer. The E308D mutation (300393.0001) is on the cytosolic side of the receptor that interacts with heterotrimeric G proteins. Residue E308 is located in the long intracellular loop 3, which connects transmembrane domains 5 and 6. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lee et al. (2001) mapped the GPR101 gene to the X chromosome based on sequence similarity between the GPR101 sequence and a genomic clone (GenBank AL390879) localized to the X chromosome. </p><p>Using FISH, Bates et al. (2006) mapped the human GPR101 gene to chromosome Xq26-q27. </p><p>Hartz (2014) mapped the GPR101 gene to chromosome Xq26.3 based on an alignment of the GPR101 sequence (GenBank BC069439) with the genomic sequence (GRCh38).</p><p>Bates et al. (2006) mapped the mouse Gpr101 gene to chromosome XA5, where it lies in a region of conserved synteny with human chromosome Xq26-q27. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Trivellin et al. (2014) identified a recurrent GPR101 mutation (E308D; 300393.0001) in 4.4% of DNA from tumor samples and in 1.8% of DNA from peripheral blood mononuclear cell (PBMC) samples obtained from patients with sporadic acromegaly (300943). Trivellin et al. (2014) did not find GPR101 mutations in families with isolated familial pituitary adenomas. </p><p>In a patient with sporadic acromegaly, Kamenicky et al. (2015) identified a novel germline mutation in the GPR101 gene (D366E; 300393.0002). </p><p>Iacovazzo et al. (2016) sequenced DNA from 579 acromegaly patients and identified 4 patients (0.69%) with a germline E308D mutation in the GPR101 gene. No other rare or novel coding variants were detected, and the authors suggested that GPR101 variants do not occur frequently and might not play a significant role in the pathogenesis of acromegaly. </p><p>Franke et al. (2022) compared differentially expressed genes between tumors from 4 individuals with XLAG and normal pituitary tissue from 3 control individuals and identified GPR101 as the most significantly dysregulated gene, with a greater than 12 log2-fold increase in expression in the tumors. Franke et al. (2022) then evaluated the organization of the topologically associated domain (TAD) that contains the GPR101 gene in PBMCs from patients with XLAG using 4C seq analysis. The Xq23.3 duplication in patients with XLAG was found to result in altered chromatin confirmation, which permits new interactions between the GPR101 promoter and centromeric regulatory enhancers. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>2 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPR101, GLU308ASP ({dbSNP rs73637412})
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs73637412,
|
|
|
|
|
|
gnomAD: rs73637412,
|
|
|
|
|
|
ClinVar: RCV000154187, RCV000887712, RCV003927490
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 11 of 248 patients with acromegaly and growth hormone-producing adenomas (PITA2; 300943), Trivellin et al. (2014) identified a c.924G-C transversion in the GPR101 gene, resulting in a glu308-to-asp (E308D) substitution. In 3 mutation carriers, the mutation appeared to be a germline event, as the mutation was detected in peripheral blood. In 8 patients, the mutation was only seen in tumor DNA, and in 1 patient, it was confirmed as a de novo somatic mutation, as it was not found in peripheral blood. This mutation was not found in 7,600 control samples from public databases. Transfection of a construct expressing GPR101 containing the E308D mutation increased proliferation and growth hormone secretion in a rat pituitary cell line. </p><p>Roohi (2015) reported that the E308D mutation in GPR101 shows an allele frequency of 0.55% among Europeans in the ExAC database and 0.36% among the total cohort of 61,500 unrelated individuals. Given the frequency of the variant, Roohi (2015) urged caution in interpreting it as a disease-associated variant. Daly et al. (2015) responded that the SNP rs73637412 describes both E308D (c.924G-C) and its synonymous counterpart, c.924G-A. The synonymous variant is reported at a lower frequency in the ExAC database than in other databases, suggesting discrepancies in variant calling. Daly et al. (2015) pointed out that the presence of the E308D variant in pituitary tumors, as well as constitutively, supports a gain of function. </p><p>Iacovazzo et al. (2016) sequenced DNA from 579 acromegaly patients and identified 4 patients with a germline E308D mutation in the GPR101 gene, none of whom had a family history of pituitary adenoma. The authors noted that the allele frequency of the E308D variant in this series, 0.45%, was similar to that reported in the ExAC database (0.37%). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
GPR101, ASP366GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1556379508,
|
|
|
|
|
|
|
|
ClinVar: RCV000172847
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with adult-onset sporadic acromegaly and invasive macroadenoma (PITA2; 300943), Kamenicky et al. (2015) identified a germline asp366-to-glu (D366E) mutation in the GPR101 gene. The mutation was not reported in the Exome Aggregation Consortium, 1000 Genomes Project, dbSNP, or Exome Variant Server databases. The D366E mutation is located in intracellular loop 3 of the GPR101 protein. No functional studies were performed. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
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|
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|
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|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bates, B., Zhang, L., Nawoschik, S., Kodangattil, S., Tseng, E., Kopsco, D., Kramer, A., Shan, Q., Taylor, N., Johnson, J., Sun, Y., Chen, H. M., Blatcher, M., Paulsen, J. E., Pausch, M. H.
|
|
<strong>Characterization of Gpr101 expression and G-protein coupling selectivity.</strong>
|
|
Brain Res. 1087: 1-14, 2006.
|
|
|
|
|
|
[PubMed: 16647048]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.brainres.2006.02.123]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Daly, A. F., Trivellin, G., Stratakis, C. A.
|
|
<strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong>
|
|
New Eng. J. Med. 372: 1265 only, 2015.
|
|
|
|
|
|
[PubMed: 25806919]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMc1500340]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Franke, M., Daly, A. F., Palmeira, L., Tirosh, A., Stigliano, A., Trifan, E., Faucz, F. R., Abboud, D., Petrossians, P., Tena, J. J., Vitali, E., Lania, A. G., Gomez-Skarmeta, J. L., Beckers, A., Stratakis, C. A., Trivellin, G.
|
|
<strong>Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism.</strong>
|
|
Am. J. Hum. Genet. 109: 553-570, 2022.
|
|
|
|
|
|
[PubMed: 35202564]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2022.02.002]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hartz, P. A.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 12/30/2014.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernandez-Ramirez, L. C., Kapur, S., Caimari, F., Evanson, J., Ferrau, F., Dang, M. N., Gabrovska, P., and 23 others.
|
|
<strong>Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.</strong>
|
|
Acta Neuropath. Commun. 4: 56, 2016. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 27245663]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1186/s40478-016-0328-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kamenicky, P., Bouligand, J., Chanson, P.
|
|
<strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong>
|
|
New Eng. J. Med. 372: 1264 only, 2015.
|
|
|
|
|
|
[PubMed: 25806920]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMc1500340]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, D. K., Nguyen, T., Lynch, K. R., Cheng, R., Vanti, W. B., Arkhitko, O., Lewis, T., Evans, J. F., George, S. R., O'Dowd, B. F.
|
|
<strong>Discovery and mapping of ten novel G protein-coupled receptor genes.</strong>
|
|
Gene 275: 83-91, 2001.
|
|
|
|
|
|
[PubMed: 11574155]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0378-1119(01)00651-5]
|
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nilaweera, K. N., Wilson, D., Bell, L., Mercer, J. G., Morgan, P. J., Barrett, P.
|
|
<strong>G protein-coupled receptor 101 mRNA expression in supraoptic and paraventricular nuclei in rat hypothalamus is altered by pregnancy and lactation.</strong>
|
|
Brain Res. 1193: 76-83, 2008.
|
|
|
|
|
|
[PubMed: 18187126]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.brainres.2007.11.048]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Roohi, J.
|
|
<strong>Gigantism, acromegaly, and GPR101 mutations. (Letter)</strong>
|
|
New Eng. J. Med. 372: 1264-1265, 2015.
|
|
|
|
|
|
[PubMed: 25806921]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMc1500340]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trivellin, G., Daly, A. F., Faucz, F. R., Yuan, B., Rostomyan, L., Larco, D. O., Schernthaner-Reiter, M. H., Szarek, E., Leal, L. F., Caberg, J.-H., Castermans, E., Villa, C., and 39 others.
|
|
<strong>Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.</strong>
|
|
New Eng. J. Med. 371: 2363-2374, 2014.
|
|
|
|
|
|
[PubMed: 25470569]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa1408028]
|
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|
|
|
</p>
|
|
</li>
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Hilary J. Vernon - updated : 06/20/2022<br>Marla J. F. O'Neill - updated : 07/09/2018<br>Ada Hamosh - updated : 6/4/2015<br>Ada Hamosh - updated : 1/27/2015<br>Patricia A. Hartz - updated : 12/30/2014
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Patricia A. Hartz : 5/9/2002
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carol : 06/20/2022<br>alopez : 07/09/2018<br>carol : 09/26/2017<br>alopez : 09/22/2016<br>alopez : 06/10/2016<br>alopez : 6/4/2015<br>carol : 4/9/2015<br>alopez : 4/3/2015<br>alopez : 4/3/2015<br>alopez : 1/27/2015<br>mgross : 1/8/2015<br>mcolton : 12/30/2014<br>carol : 10/28/2005<br>carol : 5/9/2002<br>carol : 5/9/2002
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