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Entry
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- *603666 - SYNTAXIN 16; STX16
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- OMIM
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<p>
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<span class="h4">*603666</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/603666">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000124222;t=ENST00000371141" 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=8675" 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=603666" 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=ENSG00000124222;t=ENST00000371141" 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_001001433,NM_001134772,NM_001134773,NM_001204868,NM_003763,NR_037941,NR_037942,NR_037943" 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_001001433" 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=603666" 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=04718&isoform_id=04718_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/STX16" 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/2352814,2352816,2352818,2961087,14189958,16519001,17512127,34447229,47778943,49256597,85700437,119595887,119595888,119595889,119595890,119595891,119595892,119595893,194382870,194389234,198041688,198041692,221040274,325652076" 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/O14662" 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=8675" 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=ENSG00000124222;t=ENST00000371141" 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=STX16" 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=STX16" 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+8675" 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/STX16" 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:8675" 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/8675" 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=chr20&hgg_gene=ENST00000371141.8&hgg_start=58651283&hgg_end=58679526&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=603666[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 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=603666[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/ENSG00000124222" 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=STX16" 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=STX16" 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=STX16" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=STX16&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/PA36231" 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:11431" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0031106.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1923396" 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/STX16#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:1923396" 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/8675/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=8675" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00022534;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-060810-113" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8675" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=STX16&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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603666
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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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SYNTAXIN 16; STX16
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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">
|
|
SYN16
|
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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=STX16" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">STX16</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>
|
|
Cytogenetic location: <a href="/geneMap/20/422?start=-3&limit=10&highlight=422">20q13.32</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr20:58651283-58679526&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'})">20:58,651,283-58,679,526</a> </span>
|
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</em>
|
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</strong>
|
|
<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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/20/422?start=-3&limit=10&highlight=422">
|
|
20q13.32
|
|
</a>
|
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</span>
|
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</td>
|
|
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|
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<td>
|
|
<span class="mim-font">
|
|
Pseudohypoparathyroidism Ib
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/603233"> 603233 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<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">
|
|
<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/603666" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/603666" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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>
|
|
|
|
<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
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<span class="mim-text-font">
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<p>SNAREs (SNAP receptors) are molecules involved in synaptic vesicle docking and fusion. V-SNAREs, found on vesicles, interact with t-SNAREs (syntaxins), found on target membranes, in a specific manner. See alpha-SNAP (<a href="/entry/603215">603215</a>). By searching sequence databases for syntaxin-like proteins, <a href="#5" class="mim-tip-reference" title="Tang, B. L., Low, D. Y. H., Lee, S. S., Tan, A. E. H., Hong, W. <strong>Molecular cloning and localization of human syntaxin 16, a member of the syntaxin family of SNARE proteins.</strong> Biochem. Biophys. Res. Commun. 242: 673-679, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9464276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9464276</a>] [<a href="https://doi.org/10.1006/bbrc.1997.8029" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9464276">Tang et al. (1998)</a> identified a human cDNA encoding a novel syntaxin, which they designated syntaxin-16 (SYN16). The predicted 307-amino acid protein contains the C-terminal hydrophobic tail anchor characteristic of syntaxins, and several potential coiled-coil regions. Using immunofluorescence, the authors determined that an epitope-tagged SYN16 protein localized to the Golgi apparatus. Northern blot analysis revealed that the 6.5-kb SYN16 mRNA is expressed ubiquitously. Independently, <a href="#4" class="mim-tip-reference" title="Simonsen, A., Bremnes, B., Ronning, E., Aasland, R., Stenmark, H. <strong>Syntaxin-16, a putative Golgi t-SNARE.</strong> Europ. J. Cell Biol. 75: 223-231, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9587053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9587053</a>] [<a href="https://doi.org/10.1016/S0171-9335(98)80116-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9587053">Simonsen et al. (1998)</a> isolated cDNAs encoding 3 isoforms of syntaxin-16, syntaxin-16A, -16B, and -16C. The 16C isoform is truncated, lacks the hydrophobic and coiled-coil regions, and localizes to the cytoplasm. The authors found that the 16A isoform associates posttranslationally with microsomes, and appears to be transported to the Golgi via the endoplasmic reticulum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9587053+9464276" 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="mim-changed mim-change"><p><a href="#1" class="mim-tip-reference" title="Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H. <strong>Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.</strong> J. Clin. Invest. 112: 1255-1263, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14561710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14561710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14561710[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/10.1172/JCI19159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14561710">Bastepe et al. (2003)</a> mapped the STX16 gene to chromosome 20q13.3 by genomic sequence analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14561710" 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></div>
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<p>In affected members and obligate carriers from 12 unrelated families with pseudohypoparathyroidism Ib (<a href="/entry/603233">603233</a>), <a href="#1" class="mim-tip-reference" title="Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H. <strong>Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.</strong> J. Clin. Invest. 112: 1255-1263, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14561710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14561710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14561710[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/10.1172/JCI19159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14561710">Bastepe et al. (2003)</a> identified a 3-kb heterozygous microdeletion located approximately 220 kb centromeric of exon 1A of the GNAS gene (<a href="/entry/139320">139320</a>), which was postulated to disrupt imprinting. Four of 16 apparently sporadic patients also had the deletion. In all examined cases, the deletion was inherited from the mother, consistent with the observation of PHP Ib developing only in offspring of female obligate carriers. The deletion removed 3 of 8 exons encoding syntaxin-16 (<a href="#0001">603666.0001</a>). <a href="#1" class="mim-tip-reference" title="Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H. <strong>Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.</strong> J. Clin. Invest. 112: 1255-1263, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14561710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14561710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14561710[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/10.1172/JCI19159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14561710">Bastepe et al. (2003)</a> postulated that the microdeletion disrupts a putative cis-acting element required for methylation at exon 1A and that this genetic defect underlies the pathogenesis of PHP Ib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14561710" 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="Linglart, A., Gensure, R. C., Olney, R. C., Juppner, H., Bastepe, M. <strong>A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.</strong> Am. J. Hum. Genet. 76: 804-814, 2005. Note: Erratum: Am. J. Hum. Genet. 81: 196 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15800843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15800843</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15800843[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/10.1086/429932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15800843">Linglart et al. (2005)</a> reported a novel heterozygous 4.4-kb microdeletion in a large kindred with autosomal dominant PHP Ib. Affected individuals from this kindred shared an epigenetic defect that was indistinguishable from that observed in patients with the same clinical disorder who carried the 3-kb microdeletion in the STX16 region (<a href="#1" class="mim-tip-reference" title="Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H. <strong>Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.</strong> J. Clin. Invest. 112: 1255-1263, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14561710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14561710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14561710[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/10.1172/JCI19159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14561710">Bastepe et al., 2003</a>), i.e., an isolated loss of methylation at GNAS exon A/B. The novel 4.4-kb microdeletion overlapped with a region of the 3-kb microdeletion and, similar to the latter deletion, removed several exons of STX16. Because these microdeletions led to AD-PHP Ib only after maternal transmission, <a href="#3" class="mim-tip-reference" title="Linglart, A., Gensure, R. C., Olney, R. C., Juppner, H., Bastepe, M. <strong>A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.</strong> Am. J. Hum. Genet. 76: 804-814, 2005. Note: Erratum: Am. J. Hum. Genet. 81: 196 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15800843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15800843</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15800843[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/10.1086/429932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15800843">Linglart et al. (2005)</a> analyzed expression of STX16 in lymphoblastoid cells of affected individuals with the 3-kb or the 4.4-kb microdeletion, an individual with a NESP55 deletion, and a healthy control. They found that STX16 mRNA was expressed in all cases from both parental alleles. Thus, STX16 is apparently not imprinted, and a loss-of-function mutation in 1 allele is unlikely to be responsible for this disorder. Instead, the region of overlap between the 2 microdeletions likely harbors a cis-acting imprinting control element that is necessary for establishing and/or maintaining methylation at GNAS exon A/B, thus allowing normal expression of Gs-alpha expression in the proximal renal tubules. In the presence of either of the 2 microdeletions, parathyroid hormone resistance appears to develop over time, as documented in an affected individual who was diagnosed at birth with a 4.4-kb deletion of STX16 but had normal serum parathyroid hormone levels until the age of 21 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14561710+15800843" 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 affected members and obligate carriers of 12 unrelated families with pseudohypoparathyroidism type Ib (<a href="/entry/603233">603233</a>), <a href="#1" class="mim-tip-reference" title="Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H. <strong>Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.</strong> J. Clin. Invest. 112: 1255-1263, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14561710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14561710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14561710[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/10.1172/JCI19159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14561710">Bastepe et al. (2003)</a> identified a 3-kb heterozygous microdeletion located approximately 220 kb centromeric of exon 1A, which they called exon A/B, of the GNAS gene (see also <a href="/entry/139320#0031">139320.0031</a>). Four of 16 apparently sporadic patients also had the deletion. Affected individuals with the microdeletion showed loss of exon 1A methylation, but no other epigenetic abnormalities. In all examined cases, the deletion was inherited from the mother, consistent with the observation of PHP Ib developing only in offspring of female obligate carriers. The deletion removed 3 of 8 exons encoding STX16, but <a href="#1" class="mim-tip-reference" title="Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H. <strong>Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.</strong> J. Clin. Invest. 112: 1255-1263, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14561710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14561710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14561710[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/10.1172/JCI19159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14561710">Bastepe et al. (2003)</a> considered the involvement of STX16 in the molecular pathogenesis of PHP Ib unlikely. They postulated that the microdeletion disrupts a putative cis-acting control element required for methylation at exon 1A and that this epigenetic defect underlies the pathogenesis of PHP Ib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14561710" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Laspa, E., Bastepe, M., Juppner, H., Tsatsoulis, A. <strong>Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.</strong> J. Clin. Endocr. Metab. 89: 5942-5947, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15579741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15579741</a>] [<a href="https://doi.org/10.1210/jc.2004-0249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15579741">Laspa et al. (2004)</a> reported a Greek PHP Ib kindred with 4 affected members and 3 obligate carriers who had the 3-kb deletion within STX16. Symptomatic hypocalcemia was present only in the proband, but PTH was elevated in all members who had inherited the 3-kb deletion maternally. In all affected family members, urinary phosphate excretion was normal, but 1,25-dihydroxyvitamin D levels were diminished. Affected individuals displayed hypouricemia with increased fractional excretion of uric acid, suggesting possible involvement of PTH in the renal handling of this metabolite. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15579741" 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 all affected individuals and obligate carriers in a large kindred with PHP Ib, <a href="#3" class="mim-tip-reference" title="Linglart, A., Gensure, R. C., Olney, R. C., Juppner, H., Bastepe, M. <strong>A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.</strong> Am. J. Hum. Genet. 76: 804-814, 2005. Note: Erratum: Am. J. Hum. Genet. 81: 196 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15800843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15800843</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15800843[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/10.1086/429932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15800843">Linglart et al. (2005)</a> identified a 4.4-kb microdeletion overlapping with a region of the 3-kb deletion identified by <a href="#1" class="mim-tip-reference" title="Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H. <strong>Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.</strong> J. Clin. Invest. 112: 1255-1263, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14561710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14561710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14561710[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/10.1172/JCI19159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14561710">Bastepe et al. (2003)</a>. The 4.4-kb deletion removed exons 2-4 of the STX16 gene, whereas the 3-kb deletion removed exons 4-6. Both microdeletions lead to PHP Ib only after maternal transmission, and affected individuals exhibit loss of methylation only at GNAS exon A/B. <a href="#3" class="mim-tip-reference" title="Linglart, A., Gensure, R. C., Olney, R. C., Juppner, H., Bastepe, M. <strong>A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.</strong> Am. J. Hum. Genet. 76: 804-814, 2005. Note: Erratum: Am. J. Hum. Genet. 81: 196 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15800843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15800843</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15800843[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/10.1086/429932" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15800843">Linglart et al. (2005)</a> determined that the STX16 gene is not imprinted, and proposed that the region of overlap between the microdeletions contains a cis-acting imprinting control element that is necessary for establishing and/or maintaining methylation at GNAS exon A/B. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14561710+15800843" 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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Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H.
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<strong>Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.</strong>
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J. Clin. Invest. 112: 1255-1263, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14561710/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14561710</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14561710[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=14561710" 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/10.1172/JCI19159" target="_blank">Full Text</a>]
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Laspa, E., Bastepe, M., Juppner, H., Tsatsoulis, A.
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<strong>Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.</strong>
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J. Clin. Endocr. Metab. 89: 5942-5947, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15579741/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15579741</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15579741" 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/10.1210/jc.2004-0249" target="_blank">Full Text</a>]
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<a id="Linglart2005" class="mim-anchor"></a>
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Linglart, A., Gensure, R. C., Olney, R. C., Juppner, H., Bastepe, M.
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<strong>A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.</strong>
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Am. J. Hum. Genet. 76: 804-814, 2005. Note: Erratum: Am. J. Hum. Genet. 81: 196 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15800843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15800843</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15800843[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=15800843" 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/10.1086/429932" target="_blank">Full Text</a>]
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Simonsen, A., Bremnes, B., Ronning, E., Aasland, R., Stenmark, H.
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<strong>Syntaxin-16, a putative Golgi t-SNARE.</strong>
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Europ. J. Cell Biol. 75: 223-231, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9587053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9587053</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9587053" 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/S0171-9335(98)80116-7" target="_blank">Full Text</a>]
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Tang, B. L., Low, D. Y. H., Lee, S. S., Tan, A. E. H., Hong, W.
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<strong>Molecular cloning and localization of human syntaxin 16, a member of the syntaxin family of SNARE proteins.</strong>
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Biochem. Biophys. Res. Commun. 242: 673-679, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9464276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9464276</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9464276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1997.8029" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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John A. Phillips, III - updated : 11/17/2006
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Victor A. McKusick - updated : 6/8/2005<br>Victor A. McKusick - updated : 3/8/2005
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Rebekah S. Rasooly : 3/23/1999
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alopez : 02/07/2025
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ckniffin : 01/07/2009<br>carol : 6/29/2007<br>alopez : 11/17/2006<br>wwang : 6/27/2005<br>carol : 6/24/2005<br>terry : 6/8/2005<br>carol : 3/16/2005<br>terry : 3/8/2005<br>alopez : 3/23/1999
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SYNTAXIN 16; STX16
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SYN16
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Inheritance
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Pseudohypoparathyroidism Ib
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603233
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Autosomal dominant
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3
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<strong>Cloning and Expression</strong>
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<p>SNAREs (SNAP receptors) are molecules involved in synaptic vesicle docking and fusion. V-SNAREs, found on vesicles, interact with t-SNAREs (syntaxins), found on target membranes, in a specific manner. See alpha-SNAP (603215). By searching sequence databases for syntaxin-like proteins, Tang et al. (1998) identified a human cDNA encoding a novel syntaxin, which they designated syntaxin-16 (SYN16). The predicted 307-amino acid protein contains the C-terminal hydrophobic tail anchor characteristic of syntaxins, and several potential coiled-coil regions. Using immunofluorescence, the authors determined that an epitope-tagged SYN16 protein localized to the Golgi apparatus. Northern blot analysis revealed that the 6.5-kb SYN16 mRNA is expressed ubiquitously. Independently, Simonsen et al. (1998) isolated cDNAs encoding 3 isoforms of syntaxin-16, syntaxin-16A, -16B, and -16C. The 16C isoform is truncated, lacks the hydrophobic and coiled-coil regions, and localizes to the cytoplasm. The authors found that the 16A isoform associates posttranslationally with microsomes, and appears to be transported to the Golgi via the endoplasmic reticulum. </p>
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<strong>Mapping</strong>
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<p>Bastepe et al. (2003) mapped the STX16 gene to chromosome 20q13.3 by genomic sequence analysis. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members and obligate carriers from 12 unrelated families with pseudohypoparathyroidism Ib (603233), Bastepe et al. (2003) identified a 3-kb heterozygous microdeletion located approximately 220 kb centromeric of exon 1A of the GNAS gene (139320), which was postulated to disrupt imprinting. Four of 16 apparently sporadic patients also had the deletion. In all examined cases, the deletion was inherited from the mother, consistent with the observation of PHP Ib developing only in offspring of female obligate carriers. The deletion removed 3 of 8 exons encoding syntaxin-16 (603666.0001). Bastepe et al. (2003) postulated that the microdeletion disrupts a putative cis-acting element required for methylation at exon 1A and that this genetic defect underlies the pathogenesis of PHP Ib. </p><p>Linglart et al. (2005) reported a novel heterozygous 4.4-kb microdeletion in a large kindred with autosomal dominant PHP Ib. Affected individuals from this kindred shared an epigenetic defect that was indistinguishable from that observed in patients with the same clinical disorder who carried the 3-kb microdeletion in the STX16 region (Bastepe et al., 2003), i.e., an isolated loss of methylation at GNAS exon A/B. The novel 4.4-kb microdeletion overlapped with a region of the 3-kb microdeletion and, similar to the latter deletion, removed several exons of STX16. Because these microdeletions led to AD-PHP Ib only after maternal transmission, Linglart et al. (2005) analyzed expression of STX16 in lymphoblastoid cells of affected individuals with the 3-kb or the 4.4-kb microdeletion, an individual with a NESP55 deletion, and a healthy control. They found that STX16 mRNA was expressed in all cases from both parental alleles. Thus, STX16 is apparently not imprinted, and a loss-of-function mutation in 1 allele is unlikely to be responsible for this disorder. Instead, the region of overlap between the 2 microdeletions likely harbors a cis-acting imprinting control element that is necessary for establishing and/or maintaining methylation at GNAS exon A/B, thus allowing normal expression of Gs-alpha expression in the proximal renal tubules. In the presence of either of the 2 microdeletions, parathyroid hormone resistance appears to develop over time, as documented in an affected individual who was diagnosed at birth with a 4.4-kb deletion of STX16 but had normal serum parathyroid hormone levels until the age of 21 months. </p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>1 Selected Example):</strong>
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<strong>.0001 PSEUDOHYPOPARATHYROIDISM, TYPE IB</strong>
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STX16, 3-KB TO 4.4-KB MICRODELETION
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<br />
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ClinVar: RCV000006524
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<p>In affected members and obligate carriers of 12 unrelated families with pseudohypoparathyroidism type Ib (603233), Bastepe et al. (2003) identified a 3-kb heterozygous microdeletion located approximately 220 kb centromeric of exon 1A, which they called exon A/B, of the GNAS gene (see also 139320.0031). Four of 16 apparently sporadic patients also had the deletion. Affected individuals with the microdeletion showed loss of exon 1A methylation, but no other epigenetic abnormalities. In all examined cases, the deletion was inherited from the mother, consistent with the observation of PHP Ib developing only in offspring of female obligate carriers. The deletion removed 3 of 8 exons encoding STX16, but Bastepe et al. (2003) considered the involvement of STX16 in the molecular pathogenesis of PHP Ib unlikely. They postulated that the microdeletion disrupts a putative cis-acting control element required for methylation at exon 1A and that this epigenetic defect underlies the pathogenesis of PHP Ib. </p><p>Laspa et al. (2004) reported a Greek PHP Ib kindred with 4 affected members and 3 obligate carriers who had the 3-kb deletion within STX16. Symptomatic hypocalcemia was present only in the proband, but PTH was elevated in all members who had inherited the 3-kb deletion maternally. In all affected family members, urinary phosphate excretion was normal, but 1,25-dihydroxyvitamin D levels were diminished. Affected individuals displayed hypouricemia with increased fractional excretion of uric acid, suggesting possible involvement of PTH in the renal handling of this metabolite. </p><p>In all affected individuals and obligate carriers in a large kindred with PHP Ib, Linglart et al. (2005) identified a 4.4-kb microdeletion overlapping with a region of the 3-kb deletion identified by Bastepe et al. (2003). The 4.4-kb deletion removed exons 2-4 of the STX16 gene, whereas the 3-kb deletion removed exons 4-6. Both microdeletions lead to PHP Ib only after maternal transmission, and affected individuals exhibit loss of methylation only at GNAS exon A/B. Linglart et al. (2005) determined that the STX16 gene is not imprinted, and proposed that the region of overlap between the microdeletions contains a cis-acting imprinting control element that is necessary for establishing and/or maintaining methylation at GNAS exon A/B. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., Juppner, H.
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<strong>Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.</strong>
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J. Clin. Invest. 112: 1255-1263, 2003.
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[PubMed: 14561710]
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[Full Text: https://doi.org/10.1172/JCI19159]
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</li>
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<p class="mim-text-font">
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Laspa, E., Bastepe, M., Juppner, H., Tsatsoulis, A.
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<strong>Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance.</strong>
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J. Clin. Endocr. Metab. 89: 5942-5947, 2004.
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[PubMed: 15579741]
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[Full Text: https://doi.org/10.1210/jc.2004-0249]
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<li>
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<p class="mim-text-font">
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Linglart, A., Gensure, R. C., Olney, R. C., Juppner, H., Bastepe, M.
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<strong>A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS.</strong>
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Am. J. Hum. Genet. 76: 804-814, 2005. Note: Erratum: Am. J. Hum. Genet. 81: 196 only, 2007.
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[PubMed: 15800843]
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[Full Text: https://doi.org/10.1086/429932]
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<p class="mim-text-font">
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Simonsen, A., Bremnes, B., Ronning, E., Aasland, R., Stenmark, H.
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<strong>Syntaxin-16, a putative Golgi t-SNARE.</strong>
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Europ. J. Cell Biol. 75: 223-231, 1998.
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[PubMed: 9587053]
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[Full Text: https://doi.org/10.1016/S0171-9335(98)80116-7]
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<li>
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<p class="mim-text-font">
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Tang, B. L., Low, D. Y. H., Lee, S. S., Tan, A. E. H., Hong, W.
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<strong>Molecular cloning and localization of human syntaxin 16, a member of the syntaxin family of SNARE proteins.</strong>
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Biochem. Biophys. Res. Commun. 242: 673-679, 1998.
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[PubMed: 9464276]
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[Full Text: https://doi.org/10.1006/bbrc.1997.8029]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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John A. Phillips, III - updated : 11/17/2006<br>Victor A. McKusick - updated : 6/8/2005<br>Victor A. McKusick - updated : 3/8/2005
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<span class="mim-text-font">
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Rebekah S. Rasooly : 3/23/1999
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alopez : 02/07/2025<br>ckniffin : 01/07/2009<br>carol : 6/29/2007<br>alopez : 11/17/2006<br>wwang : 6/27/2005<br>carol : 6/24/2005<br>terry : 6/8/2005<br>carol : 3/16/2005<br>terry : 3/8/2005<br>alopez : 3/23/1999
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