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Entry
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- *142409 - HEPATOCYTE GROWTH FACTOR; HGF
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- OMIM
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</ul>
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</nav>
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<div id="mimSearch" class="hidden-print">
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<div class="container">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<div class="row">
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<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
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<div class="form-group">
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<div class="input-group">
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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<div class="input-group-btn">
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<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
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<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
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<ul class="dropdown-menu dropdown-menu-right">
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<li class="dropdown-header">
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Advanced Search
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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</li>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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</li>
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<li role="separator" class="divider"></li>
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<li>
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<a href="/history"> Search History </a>
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</li>
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</ul>
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</div>
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</div>
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<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
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</div>
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</div>
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<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
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<span class="small">
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</form>
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<div class="row">
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<p />
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</div>
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<!-- <div id="mimSearch"> -->
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<div class="container hidden-print">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<div id="mimAlertBanner">
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</div>
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</div>
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</div>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*142409</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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</li>
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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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</li>
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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>
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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>
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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>
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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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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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</li>
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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/142409">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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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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</li>
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</ul>
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</nav>
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</div>
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</div>
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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">
|
|
<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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|
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000019991;t=ENST00000222390" 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=3082" 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=142409" 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=ENSG00000019991;t=ENST00000222390" 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_000601,NM_001010931,NM_001010932,NM_001010933,NM_001010934,XM_047420293" 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_000601" 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=142409" 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">
|
|
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
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</a>
|
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</span>
|
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</span>
|
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</div>
|
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/HGF" 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/32082,32084,123116,184030,184032,184034,219700,306846,337936,337938,1378042,3845413,12394255,18490837,21711995,28932955,33859835,39645403,51094944,58533163,58533165,58533167,58533170,62087380,76780201,119597398,119597399,120660310,120660312,158256780,260542696,260542698,2217366822" 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/P14210" 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=3082" 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=ENSG00000019991;t=ENST00000222390" 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=HGF" 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=HGF" 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+3082" 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/HGF" 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:3082" 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/3082" 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=chr7&hgg_gene=ENST00000222390.11&hgg_start=81699010&hgg_end=81770047&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">
|
|
<span class="panel-title">
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<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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|
<div style="display: table-cell;">Clinical Resources</div>
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</div>
|
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4893" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:4893" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=142409[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=142409[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/ENSG00000019991" 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=HGF" 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=HGF" 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=HGF" 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=HGF&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/PA29269" 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:4893" 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:96079" 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/HGF#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:96079" 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/3082/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=3082" 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-041014-2" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:142409" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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:3082" 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=HGF&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>
|
|
<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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142409
|
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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>
|
|
<span class="mim-font">
|
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|
|
HEPATOCYTE GROWTH FACTOR; HGF
|
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|
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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 />
|
|
</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">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
SCATTER FACTOR; SF<br />
|
|
LUNG FIBROBLAST-DERIVED MITOGEN<br />
|
|
HEPATOPOIETIN A
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HGF" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HGF</a></em></strong>
|
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</span>
|
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</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/7/376?start=-3&limit=10&highlight=376">7q21.11</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:81699010-81770047&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'})">7:81,699,010-81,770,047</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/radial/142409" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Plasma from patients with fulminant hepatic failure contains a factor that stimulates the growth of adult rat hepatocytes in primary culture. <a href="#4" class="mim-tip-reference" title="Gohda, E., Tsubouchi, H., Nakayama, H., Hirono, S., Sakiyama, O., Takahashi, K., Miyazaki, H., Hashimoto, S., Daikuhara, Y. <strong>Purification and partial characterization of hepatocyte growth factor from plasma of a patient with fulminant hepatic failure.</strong> J. Clin. Invest. 81: 414-419, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3276728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3276728</a>] [<a href="https://doi.org/10.1172/JCI113334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3276728">Gohda et al. (1988)</a> purified HGF from a patient's plasma and showed that it has multiple forms with molecular mass between 76 and 92 kD. HGF consists of 2 chains, heavy and light, with molecular mass of 54 to 65 kD and 31.5 and 34.5 kD, respectively. These chains are linked together by disulfide bonds. <a href="#14" class="mim-tip-reference" title="Miyazawa, K., Tsubouchi, H., Naka, D., Takahashi, K., Okigaki, M., Arakaki, N., Nakayama, H., Hirono, S., Sakiyama, O., Takahashi, K., Gohda, E., Daikuhara, Y., Kitamura, N. <strong>Molecular cloning and sequence analysis of cDNA for human hepatocyte growth factor.</strong> Biochem. Biophys. Res. Commun. 163: 967-973, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2528952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2528952</a>] [<a href="https://doi.org/10.1016/0006-291x(89)92316-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2528952">Miyazawa et al. (1989)</a> and <a href="#15" class="mim-tip-reference" title="Nakamura, T., Nishizawa, T., Hagiya, M., Seki, T., Shimonishi, M., Sugimura, A., Tashiro, K., Shimizu, S. <strong>Molecular cloning and expression of human hepatocyte growth factor.</strong> Nature 342: 440-443, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2531289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2531289</a>] [<a href="https://doi.org/10.1038/342440a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2531289">Nakamura et al. (1989)</a> sequenced cDNAs encoding HGF. The deduced sequence of the pre-pro-protein consisted of 728 amino acid residues. The sequence showed that the heavy and light chains are encoded by the same mRNA and are produced from a common translation product by proteolytic processing. The difference in deduced number of amino acid residues probably indicates that HGF is distinct from hepatocyte stimulatory factor (HSF), which is the same as interferon beta-2 (<a href="/entry/147620">147620</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2531289+2528952+3276728" 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="#19" class="mim-tip-reference" title="Rubin, J. S., Chan, A. M.-L., Bottaro, D. P., Burgess, W. H., Taylor, W. G., Cech, A. C., Hirschfield, D. W., Wong, J., Miki, T., Finch, P. W., Aaronson, S. A. <strong>A broad-spectrum human lung fibroblast-derived mitogen is a variant of hepatocyte growth factor.</strong> Proc. Nat. Acad. Sci. 88: 415-419, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1824873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1824873</a>] [<a href="https://doi.org/10.1073/pnas.88.2.415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1824873">Rubin et al. (1991)</a> studied a mitogen derived from lung fibroblasts which, if not identical to HGF, is closely related to it. They showed that their human lung fibroblast-derived mitogen had a spectrum of targets including endothelial cells and melanocytes in addition to epithelial cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1824873" 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="Gherardi, E., Stoker, M. <strong>Hepatocytes and scatter factor.</strong> Nature 346: 228 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2142751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2142751</a>] [<a href="https://doi.org/10.1038/346228b0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2142751">Gherardi and Stoker (1990)</a> found that HGF is structurally similar, if not identical, to scatter factor, a molecule shown to stimulate the dissociation and scattering of epithelial cells. The sequence of HGF has about 35% identity to that of plasminogen (<a href="/entry/173350">173350</a>) and the putative cleavage site of HGF is identical to that of plasminogen. A potent mitogen for hepatocytes, HGF is also known as hepatopoietin A (HBGA) (<a href="#24" class="mim-tip-reference" title="Szpirer, C., Riviere, M., Cortese, R., Nakamura, T., Islam, M. Q., Levan, G., Szpirer, J. <strong>Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF).</strong> Genomics 13: 293-300, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1535333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1535333</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90245-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1535333">Szpirer et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1535333+2142751" 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="#26" class="mim-tip-reference" title="Weidner, K. M., Arakaki, N., Hartmann, G., Vandekerckhove, J., Weingart, S., Rieder, H., Fonatsch, C., Tsubouchi, H., Hishida, T., Daikuhara, Y., Birchmeier, W. <strong>Evidence for the identity of human scatter factor and human hepatocyte growth factor.</strong> Proc. Nat. Acad. Sci. 88: 7001-7005, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1831266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1831266</a>] [<a href="https://doi.org/10.1073/pnas.88.16.7001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1831266">Weidner et al. (1991)</a> presented structural and functional evidence that human scatter factor (SF) and human HGF are identical proteins encoded by a single gene. Lung fibroblast-derived mitogen is also coded by the same gene. The HGF cellular receptor gene, the MET oncogene (<a href="/entry/164860">164860</a>), is located on 7q with the HGF gene. Thus, cells with polysomy of chromosome 7 may simultaneously overproduce both the factor and its receptor and acquire invasive properties through an autocrine mechanism. An increase in the copy number of chromosome 7 is one of the most common chromosome abnormalities observed in human malignant gliomas (<a href="/entry/137800">137800</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1831266" 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="#22" class="mim-tip-reference" title="Schultz, J. M., Khan, S. N., Ahmed, Z. M., Riazuddin, S., Waryah, A. M., Chhatre, D., Starost, M. F., Ploplis, B., Buckley, S., Velasquez, D., Kabra, M., Lee, K., and 11 others. <strong>Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.</strong> Am. J. Hum. Genet. 85: 25-39, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576567[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/10.1016/j.ajhg.2009.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19576567">Schultz et al. (2009)</a> determined that HGF shares 88% identity with its mouse homolog. The authors stated that there are multiple isoforms of HGF. HGF isoform-1 encodes a preprotein that is cleaved into alpha and beta chains. The alpha chain is composed of a hairpin loop follow by 4 N-terminal kringle domains, and the beta chain has homology to trypsin-like serine proteases but has no catalytic function. HGF isoform-2 encodes only 2 kringle domains, and HGF isoform-3 and isoform-4 are similar to 1 and 2, respectively, differing only in the use of alternate exon 5b splice acceptor site. Isoform-5 encodes only 1 kringle domain and utilizes the exon 5a acceptor site. <a href="#22" class="mim-tip-reference" title="Schultz, J. M., Khan, S. N., Ahmed, Z. M., Riazuddin, S., Waryah, A. M., Chhatre, D., Starost, M. F., Ploplis, B., Buckley, S., Velasquez, D., Kabra, M., Lee, K., and 11 others. <strong>Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.</strong> Am. J. Hum. Genet. 85: 25-39, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576567[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/10.1016/j.ajhg.2009.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19576567">Schultz et al. (2009)</a> identified 2 additional short isoforms of HGF including exons 1 to 4 and a 3-prime untranslated region transcribed from intron 4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19576567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Fukuyama, R., Ichijoh, Y., Minoshima, S., Kitamura, N., Shimizu, N. <strong>Regional localization of the hepatocyte growth factor (HGF) gene to human chromosome 7 band q21.1.</strong> Genomics 11: 410-415, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1837534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1837534</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90149-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1837534">Fukuyama et al. (1991)</a> assigned the HGF gene to chromosome 7 by spot-blot hybridization using flow-sorted chromosomes. By in situ hybridization, the gene was further localized to the centromeric region of band 7q21. The location can be stated to be 7q21.1. By in situ hybridization, <a href="#26" class="mim-tip-reference" title="Weidner, K. M., Arakaki, N., Hartmann, G., Vandekerckhove, J., Weingart, S., Rieder, H., Fonatsch, C., Tsubouchi, H., Hishida, T., Daikuhara, Y., Birchmeier, W. <strong>Evidence for the identity of human scatter factor and human hepatocyte growth factor.</strong> Proc. Nat. Acad. Sci. 88: 7001-7005, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1831266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1831266</a>] [<a href="https://doi.org/10.1073/pnas.88.16.7001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1831266">Weidner et al. (1991)</a> mapped the gene to 7q11.2-q21. <a href="#29" class="mim-tip-reference" title="Zarnegar, R., Petersen, B., DeFrances, M. C., Michalopoulos, G. <strong>Localization of hepatocyte growth factor (HGF) gene on human chromosome 7.</strong> Genomics 12: 147-150, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1531136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1531136</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90417-q" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1531136">Zarnegar et al. (1992)</a> assigned the gene to chromosome 7 by Southern analysis of human/hamster somatic cell hybrids. By the analysis of somatic cell hybrid DNA, <a href="#24" class="mim-tip-reference" title="Szpirer, C., Riviere, M., Cortese, R., Nakamura, T., Islam, M. Q., Levan, G., Szpirer, J. <strong>Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF).</strong> Genomics 13: 293-300, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1535333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1535333</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90245-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1535333">Szpirer et al. (1992)</a> assigned the HGF gene to human chromosome 7 and rat chromosome 4. <a href="#20" class="mim-tip-reference" title="Saccone, S., Narsimhan, R. P., Gaudino, G., Dalpra, L., Comoglio, P. M., Della Valle, G. <strong>Regional mapping of the human hepatocyte growth factor (HGF)-scatter factor gene to chromosome 7q21.1.</strong> Genomics 13: 912-914, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386343</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90191-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1386343">Saccone et al. (1992)</a> used a nonisotopic in situ hybridization method to map HGF to 7q21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1386343+1831266+1837534+1535333+1531136" 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="#8" class="mim-tip-reference" title="Kilby, M. D., Afford, S., Li, X. F., Strain, A. J., Ahmed, A., Whittle, M. J. <strong>Localisation of hepatocyte growth factor and its receptor (c-met) protein and mRNA in human term placenta.</strong> Growth Factors 13: 133-139, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8804995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8804995</a>] [<a href="https://doi.org/10.3109/08977199609034573" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8804995">Kilby et al. (1996)</a> found that the protein and mRNA for both hepatocyte growth factor and its receptor (MET) are present in third trimester placentas, suggesting that HGF serves as a paracrine mediator to control placental development and growth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8804995" 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>B cells develop in the bone marrow from progenitor cells that have been designated pre-pro-B cells, pro-B cells (no immunoglobulin, or Ig, chains chosen), pre-B cells (which have selected a heavy chain but not a light chain), and finally B cells (which express both heavy and light chains of the Ig molecule). Differentiation of pre-pro-B cells to pro-B cells requires signaling through IL7 receptor (IL7R; <a href="/entry/146661">146661</a>) mediated by the pre-pro-B cell growth-stimulating factor (PPBSF), which consists of IL7 (<a href="/entry/146660">146660</a>) and a 30-kD protein cofactor. By amino acid sequencing and RT-PCR analysis, <a href="#9" class="mim-tip-reference" title="Lai, L., Goldschneider, I. <strong>Cutting edge: identification of a hybrid cytokine consisting of IL-7 and the beta-chain of the hepatocyte growth factor/scatter factor.</strong> J. Immun. 167: 3550-3554, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11564764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11564764</a>] [<a href="https://doi.org/10.4049/jimmunol.167.7.3550" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11564764">Lai and Goldschneider (2001)</a> determined that the PPBSF cofactor is the 30-kD beta chain of HGF (HGFB) produced independently of the 60-kD alpha chain of HGF. Formation of an IL7-HGFB heterodimer requires the presence of heparin sulfate. Functional analysis indicated that either IL7 or HGFB can maintain the viability of pre-pro-B cells, but only the heterodimer can stimulate their proliferation and differentiation into pro-B cells. <a href="#9" class="mim-tip-reference" title="Lai, L., Goldschneider, I. <strong>Cutting edge: identification of a hybrid cytokine consisting of IL-7 and the beta-chain of the hepatocyte growth factor/scatter factor.</strong> J. Immun. 167: 3550-3554, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11564764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11564764</a>] [<a href="https://doi.org/10.4049/jimmunol.167.7.3550" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11564764">Lai and Goldschneider (2001)</a> concluded that PPBSF is a novel form of cytokine, a hybrid cytokine, consisting of the bioactive components of 2 unrelated cytokines. They proposed that through its heparin-binding and mitogenic properties, HGFB enables IL7 to participate in cognate interactions at the stromal cell surface and transduce signals effectively at low levels of IL7R. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11564764" 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>To explore the role of sinusoidal endothelial cells in the adult liver, <a href="#10" class="mim-tip-reference" title="LeCouter, J., Moritz, D. R., Li, B., Phillips, G. L., Liang, X. H., Gerber, H.-P., Hillan, K. J., Ferrara, N. <strong>Angiogenesis-independent endothelial protection of liver: role of VEGFR-1.</strong> Science 299: 890-893, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12574630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12574630</a>] [<a href="https://doi.org/10.1126/science.1079562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12574630">LeCouter et al. (2003)</a> studied the effects of VEGF receptor (VEGFR1; <a href="/entry/165070">165070</a>) activation on mouse hepatocyte growth. Delivery of VEGFA (<a href="/entry/192240">192240</a>) increased liver mass in mice but did not stimulate growth of hepatocytes in vitro unless liver sinusoidal endothelial cells were also present in the culture. HGF was identified as one of the liver sinusoidal endothelial cell-derived paracrine mediators promoting hepatocyte growth. Selective activation of VEGFR1 stimulated hepatocyte but not endothelial proliferation in vivo and reduced liver damage in mice exposed to a hepatotoxin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12574630" 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="Carrolo, M., Giordano, S., Cabrita-Santos, L., Corso, S., Vigario, A. M., Silva, S., Leiriao, P., Carapau, D., Armas-Portela, R., Comoglio, P. M., Rodriguez, A., Mota, M. M. <strong>Hepatocyte growth factor and its receptor are required for malaria infection.</strong> Nature Med. 9: 1363-1369, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14556002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14556002</a>] [<a href="https://doi.org/10.1038/nm947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14556002">Carrolo et al. (2003)</a> demonstrated that wounding of hepatocytes by migration of sporozoites of the rodent malarial parasite Plasmodium berghei induced secretion of HGF, which rendered hepatocytes susceptible to infection. Infection depended on activation of the HGF receptor, MET (<a href="/entry/164860">164860</a>), by secreted HGF. The malaria parasite exploited MET not as a primary binding site, but as a mediator of signals that made host cells susceptible to infection. HGF/MET signaling induced rearrangements of the host-cell actin cytoskeleton that were required for early development of parasites within hepatocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14556002" 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="#7" class="mim-tip-reference" title="Kaushansky, A., Kappe, S. H. I. <strong>The crucial role of hepatocyte growth factor receptor during liver-stage infection is not conserved among Plasmodium species. (Letter)</strong> Nature Med. 17: 1180-1181, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21988987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21988987</a>] [<a href="https://doi.org/10.1038/nm.2456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21988987">Kaushansky and Kappe (2011)</a> sought to determine if the mechanism of HGF induction by P. berghei described by <a href="#1" class="mim-tip-reference" title="Carrolo, M., Giordano, S., Cabrita-Santos, L., Corso, S., Vigario, A. M., Silva, S., Leiriao, P., Carapau, D., Armas-Portela, R., Comoglio, P. M., Rodriguez, A., Mota, M. M. <strong>Hepatocyte growth factor and its receptor are required for malaria infection.</strong> Nature Med. 9: 1363-1369, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14556002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14556002</a>] [<a href="https://doi.org/10.1038/nm947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14556002">Carrolo et al. (2003)</a> applied to other Plasmodium species. They were able to reproduce the findings with P. berghei, but not with another rodent malaria parasite, P. yoelii, or with the human parasite, P. falciparum. <a href="#18" class="mim-tip-reference" title="Rodriguez, A., Mota, M. M. <strong>Reply to Kaushansky and Kappe. (Letter)</strong> Nature Med. 17: 1181 only, 2011."None>Rodriguez and Mota (2011)</a> concurred with the findings, but noted that the different rodent models remain useful in understanding the mechanisms underlying Plasmodium infection and contribute to future strategies to combat malaria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21988987+14556002" 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>NK4, which consists of the N-terminal hairpin domain and 4 kringle domains of the alpha chain of HGF, acts as an HGF antagonist and angiogenesis inhibitor. <a href="#27" class="mim-tip-reference" title="Wen, J., Matsumoto, K., Taniura, N., Tomioka, D., Nakamura, T. <strong>Inhibition of colon cancer growth and metastasis by NK4 gene repetitive delivery in mice.</strong> Biochem. Biophys. Res. Commun. 358: 117-123, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17467663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17467663</a>] [<a href="https://doi.org/10.1016/j.bbrc.2007.04.098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17467663">Wen et al. (2007)</a> found that treating mice repeatedly with human NK4 gene therapy inhibited colon cancer growth and metastasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17467663" 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="#23" class="mim-tip-reference" title="Straussman, R., Morikawa, T., Shee, K., Barzily-Rokni, M., Qian, Z. R., Du, J., Davis, A., Mongare, M. M., Gould, J., Frederick, D. T., Cooper, Z. A., Chapman, P. B., Solit, D. B., Ribas, A., Lo, R. S., Flaherty, K. T., Ogino, S., Wargo, J. A., Golub, T. R. <strong>Tumour micro-environment elicits innate resistance to RAF inhibitors through HGF secretion.</strong> Nature 487: 500-504, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22763439/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22763439</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22763439[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/10.1038/nature11183" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22763439">Straussman et al. (2012)</a> developed a coculture system to systematically assay the ability of 23 stromal cell types to influence the innate resistance of 45 cancer cell lines to 35 anticancer drugs. They found that stroma-mediated resistance is common, particularly to targeted agents. Proteomic analysis showed that stromal cell secretion of HGF resulted in activation of the HGF receptor MET, reactivation of the mitogen-activated protein kinase (MAPK) and phosphatidylinositol-3-OH kinase (PI(3)K)-AKT signaling pathways, and immediate resistance to RAF inhibition. Immunohistochemistry experiments confirmed stromal cell expression of HGF in patients with BRAF (<a href="/entry/164757">164757</a>)-mutant melanoma and showed a significant correlation between HGF expression by stromal cells and innate resistance to RAF inhibitor treatment. Dual inhibition of RAF and either HGF or MET resulted in reversal of drug resistance, suggesting RAF plus HGF or MET inhibitory combination therapy as a potential therapeutic strategy for BRAF-mutant melanoma. A similar resistance mechanism was uncovered in a subset of BRAF-mutant colorectal and glioblastoma cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22763439" 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="#28" class="mim-tip-reference" title="Wilson, T. R., Fridlyand, J., Yan, Y., Penuel, E., Burton, L., Chan, E., Peng, J., Lin, E., Wang, Y., Sosman, J., Ribas, A., Li, J., Moffat, J., Sutherlin, D. P., Koeppen, H., Merchant, M., Neve, R., Settleman, J. <strong>Widespread potential for growth-factor-driven resistance to anticancer kinase inhibitors.</strong> Nature 487: 505-509, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22763448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22763448</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22763448[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/10.1038/nature11249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22763448">Wilson et al. (2012)</a> independently found that HGF confers resistance to the BRAF inhibitor PLX4032 (vemurafenib) in BRAF-mutant melanoma cells, and generalized that there is extensive redundancy of receptor tyrosine kinase (RTK)-transduced signaling in cancer cells and the potentially broad role of widely expressed RTK ligands in innate and acquired resistance to drugs targeting oncogenic kinases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22763448" 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="#11" class="mim-tip-reference" title="Ma, J., DeFrances, M. C., Zou, C., Johnson, C., Ferrell, R., Zarnegar, R. <strong>Somatic mutation and functional polymorphism of a novel regulatory element in the HGF gene promoter causes its aberrant expression in human breast cancer.</strong> J. Clin. Invest. 119: 478-491, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19188684/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19188684</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19188684[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/JCI36640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19188684">Ma et al. (2009)</a> identified a cis-acting DNA element located 750 bp upstream from the transcription start site of the human HGF promoter that acts as a transcriptional repressor. The promoter element consists of a mononucleotide repeat of 30 deoxyadenosines (30As), which the authors termed 'deoxyadenosine tract element' (DATE). A scan of human breast cancer (<a href="/entry/114480">114480</a>) cells overexpressing HGF identified somatic truncating mutations within the DATE region of the HGF gene that modulated chromatin structure and DNA-protein interactions, leading to constitutive activation of the HGF promoter. Truncating DATE variants with 25 or fewer deoxyadenosines were found in breast cancer tumors of 51% of African Americans and 15% of individuals of mixed European descent. Notably, breast cancer patients with the truncated DATE variant were substantially younger than those with a wildtype genotype. Truncated DATE also occurred in normal individuals, indicating that it is polymorphic and may be a modifier of predisposition to disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19188684" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Autosomal Recessive Deafness 39</em></strong></p><p>
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In Pakistani and Indian families with autosomal recessive profound prelingual deafness mapping to chromosome 7q11.22-q21.12 (DFNB39; <a href="/entry/608265">608265</a>), <a href="#22" class="mim-tip-reference" title="Schultz, J. M., Khan, S. N., Ahmed, Z. M., Riazuddin, S., Waryah, A. M., Chhatre, D., Starost, M. F., Ploplis, B., Buckley, S., Velasquez, D., Kabra, M., Lee, K., and 11 others. <strong>Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.</strong> Am. J. Hum. Genet. 85: 25-39, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576567[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/10.1016/j.ajhg.2009.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19576567">Schultz et al. (2009)</a> identified 3 mutations in the HGF gene: a synonymous substitution in exon 5 (<a href="#0001">142409.0001</a>) and a 3-bp and a 10-bp deletion in intron 4 (<a href="#0002">142409.0002</a> and <a href="#0003">142409.0003</a>, respectively). The synonymous substitution was shown to affect splicing in vitro, and the 2 deletions occur in a highly conserved sequence that is part of the 3-prime untranslated region of a previously undescribed short isoform of HGF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19576567" 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="#21" class="mim-tip-reference" title="Schmidt, C., Bladt, F., Goedecke, S., Brinkmann, V., Zschiesche, W., Sharpe, M., Gherardi, E., Birchmeier, C. <strong>Scatter factor/hepatocyte growth factor is essential for liver development.</strong> Nature 373: 699-702, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7854452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7854452</a>] [<a href="https://doi.org/10.1038/373699a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7854452">Schmidt et al. (1995)</a> and <a href="#25" class="mim-tip-reference" title="Uehara, Y., Minowa, O., Mori, C., Shiota, K., Kuno, J., Noda, T., Kitamura, N. <strong>Placental defect and embryonic lethality in mice lacking hepatocyte growth factor/scatter factor.</strong> Nature 373: 702-705, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7854453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7854453</a>] [<a href="https://doi.org/10.1038/373702a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7854453">Uehara et al. (1995)</a> produced targeted disruption of the HGF gene in mice and found that mice lacking the gene product fail to develop completely and die in utero. The mutation affects the embryonic liver, which is reduced in size and shows extensive loss of parenchymal cells. In addition, development of the placenta, particularly of trophoblast cells, is impaired. HGF/SF is thought to mediate a signal exchange between the mesenchyme and epithelia during mouse development. Both the HGF gene and the gene for its receptor, the product of the MET protooncogene (<a href="/entry/164860">164860</a>), are expressed in many tissues during embryonic development and in the adult. The findings of these studies indicate that HGF/SF is an essential mediator of allantoic mesenchyme-trophoblastic epithelia interaction required for placental organogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7854453+7854452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Maina, F., Casagranda, F., Audero, E., Simeone, A., Comoglio, P. M., Klein, R., Ponzetto, C. <strong>Uncoupling of Grb2 from the Met receptor in vivo reveals complex roles in muscle development.</strong> Cell 87: 531-542, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8898205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8898205</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81372-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8898205">Maina et al. (1996)</a> reported that HGF and MET are determinants of placenta, liver, and muscle development. They demonstrated that Met function in vivo requires signaling via 2 C-terminal tyrosines. For this purpose they introduced point mutations into the multifunctional docking sites of the mouse Met receptor (Y(1349)VHVNATY(1356)VNV) using the 'knock in' approach described by <a href="#5" class="mim-tip-reference" title="Hanks, M., Wurst, W., Anson-Cartwright, L., Auerbach, A. B., Joyner, A. L. <strong>Rescue of the En-1 mutant phenotype by replacement of En-1 with En-2.</strong> Science 269: 679-682, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7624797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7624797</a>] [<a href="https://doi.org/10.1126/science.7624797" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7624797">Hanks et al. (1995)</a>. These 2 phosphotyrosines in the C-terminal tail act as multifunctional docking sites for SH2-containing effectors. <a href="#12" class="mim-tip-reference" title="Maina, F., Casagranda, F., Audero, E., Simeone, A., Comoglio, P. M., Klein, R., Ponzetto, C. <strong>Uncoupling of Grb2 from the Met receptor in vivo reveals complex roles in muscle development.</strong> Cell 87: 531-542, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8898205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8898205</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81372-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8898205">Maina et al. (1996)</a> demonstrated that mutation of both of these residues in the mouse genome caused embryonal death with placental liver and limb muscle defects, mimicking the phenotype of Met-null mutants. They noted that the Y(1356)VNV motif in particular binds Grb2 (<a href="/entry/108355">108355</a>) and links the receptor with Ras (see <a href="/entry/190020">190020</a>). They disrupted the consensus sequences for Grb2 binding and reported that development proceeded to term without affecting placenta and liver but caused a striking reduction in limb muscle coupled to a generalized deficit of secondary fibers. <a href="#12" class="mim-tip-reference" title="Maina, F., Casagranda, F., Audero, E., Simeone, A., Comoglio, P. M., Klein, R., Ponzetto, C. <strong>Uncoupling of Grb2 from the Met receptor in vivo reveals complex roles in muscle development.</strong> Cell 87: 531-542, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8898205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8898205</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81372-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8898205">Maina et al. (1996)</a> concluded that these data showed tissue-specific differences in MET signaling and revealed a novel role for HGF in late myogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7624797+8898205" 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>Murine melanocytes ordinarily are confined to hair follicles. The skin of transgenic mice in which a metallothionein gene promoter forces the overexpression of Hgf/Sf has melanocytes in the dermis, epidermis, and dermal-ectodermal junction, and is thus more akin to human skin. <a href="#16" class="mim-tip-reference" title="Noonan, F. P., Recio, J. A., Takayama, H., Duray, P., Anver, M. R., Rush, W. L., De Fabo, E. C., Merlino, G. <strong>Neonatal sunburn and melanoma in mice: severe sunburn in newborn, but not adult, mice is linked with melanoma in later life.</strong> Nature 413: 271-272, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11565020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11565020</a>] [<a href="https://doi.org/10.1038/35095108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11565020">Noonan et al. (2001)</a> subjected albino Hgf/Sf transgenic mice and wildtype littermates to erythemal ultraviolet irradiation at 3.5 days of age, 6 weeks of age, or both. A single neonatal dose, which was 30-fold lower than the total ultraviolet dose administered previously to adult mice, was sufficient to induce melanoma in Hgf/Sf-transgenic mice after a relatively short latent period and with high cumulative incidence. This neonatal dose roughly corresponds to a sunburning dose of natural sunlight at midlatitudes in midsummer. Melanoma development in the transgenic mice after ultraviolet irradiation at both 3.5 days and 6 weeks was indistinguishable from that seen after only a single exposure at 3.5 days, whereas a similar dose at 6 weeks was not tumorigenic. However, the second exposure to ultraviolet light increased the multiplicity of melanocytic lesions as well as the incidence of nonmelanocytic tumors, including squamous cell carcinoma and sarcoma. Melanomas were not seen in either nontransgenic or untreated transgenic mice during the course of the experiment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11565020" 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 in situ hybridization and immunoblotting, <a href="#17" class="mim-tip-reference" title="Powell, E. M., Mars, W. M., Levitt, P. <strong>Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon.</strong> Neuron 30: 79-89, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343646</a>] [<a href="https://doi.org/10.1016/s0896-6273(01)00264-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343646">Powell et al. (2001)</a> detected expression of Hgf and Met in the cerebral wall and ganglionic eminence of the developing mouse forebrain. Using conditioned media and forebrain explants for scatter assays, <a href="#17" class="mim-tip-reference" title="Powell, E. M., Mars, W. M., Levitt, P. <strong>Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon.</strong> Neuron 30: 79-89, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343646</a>] [<a href="https://doi.org/10.1016/s0896-6273(01)00264-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343646">Powell et al. (2001)</a> concluded that the forebrain exhibits regionally specific motogenic activity attributable to Hgf. <a href="#17" class="mim-tip-reference" title="Powell, E. M., Mars, W. M., Levitt, P. <strong>Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon.</strong> Neuron 30: 79-89, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11343646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11343646</a>] [<a href="https://doi.org/10.1016/s0896-6273(01)00264-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11343646">Powell et al. (2001)</a> hypothesized that HGF is a key molecular constituent in guiding interneuron migration from the ganglionic eminence to the cerebral cortex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11343646" 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="#6" class="mim-tip-reference" title="Jin, M., Chen, Y., He, S., Ryan, S. J., Hinton, D. R. <strong>Hepatocyte growth factor and its role in the pathogenesis of retinal detachment.</strong> Invest. Ophthal. Vis. Sci. 45: 323-329, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14691191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14691191</a>] [<a href="https://doi.org/10.1167/iovs.03-0355" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14691191">Jin et al. (2004)</a> found that overexpression of HGF in the retinal pigment epithelium (RPE) in rabbits induced chronic serous retinal detachment with subretinal proliferation of RPE. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14691191" 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 lentiviral vector technology to deliver uncleavable Hgf to mice, <a href="#13" class="mim-tip-reference" title="Mazzone, M., Basilico, C., Cavassa, S., Pennacchietti, S., Risio, M., Naldini, L., Comoglio, P. M., Michieli, P. <strong>An uncleavable form of pro-scatter factor suppresses tumor growth and dissemination in mice.</strong> J. Clin. Invest. 114: 1418-1432, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15545993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15545993</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15545993[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/JCI22235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15545993">Mazzone et al. (2004)</a> found that uncleavable Hgf inhibited both protease-mediated pro-Hgf conversion and active Hgf-induced Met receptor activation; that local expression of uncleavable Hgf in tumors suppressed tumor growth, impaired tumor angiogenesis, and prevented metastatic dissemination; and that systemic expression of uncleavable Hgf dramatically inhibited the growth of transplanted tumors and abolished the formation of spontaneous metastases without perturbing vital physiologic functions. <a href="#13" class="mim-tip-reference" title="Mazzone, M., Basilico, C., Cavassa, S., Pennacchietti, S., Risio, M., Naldini, L., Comoglio, P. M., Michieli, P. <strong>An uncleavable form of pro-scatter factor suppresses tumor growth and dissemination in mice.</strong> J. Clin. Invest. 114: 1418-1432, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15545993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15545993</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15545993[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/JCI22235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15545993">Mazzone et al. (2004)</a> concluded that proteolytic activation of pro-HGF is a limiting step in tumor progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15545993" 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="#22" class="mim-tip-reference" title="Schultz, J. M., Khan, S. N., Ahmed, Z. M., Riazuddin, S., Waryah, A. M., Chhatre, D., Starost, M. F., Ploplis, B., Buckley, S., Velasquez, D., Kabra, M., Lee, K., and 11 others. <strong>Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.</strong> Am. J. Hum. Genet. 85: 25-39, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576567[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/10.1016/j.ajhg.2009.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19576567">Schultz et al. (2009)</a> generated mice with a conditional knockout of Hgf in the inner ear and observed morphologic defects of the inner ear not seen in littermate controls, including a disorganized tectorial membrane onto which the Reissner membrane was collapsed, thin and flattened stria vascularis with occasional clumps of cellular proliferation, hypoplastic spiral ganglion, and outer hair cell (OHC) degeneration throughout the organ of Corti. MH19-Hgf transgenic mice overexpressing Hgf by 3- to 50-fold had an average 60-dB greater auditory-evoked brainstem response (ABR) threshold compared to littermate controls, consistent with the loss of cochlear amplification due to OHC degeneration. Inspection of the organ of Corti confirmed OHC degeneration in a spatial gradient, from complete OHC loss at the base to near-normal complement of OHCs at the apex; inner hair cells appeared normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19576567" 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> rs137853235 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853235;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/rs137853235?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=rs137853235" 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=rs137853235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 affected members of a consanguineous Pakistani family ('family PKDF210') segregating profound prelingual deafness (DFNB39; <a href="/entry/608265">608265</a>), <a href="#22" class="mim-tip-reference" title="Schultz, J. M., Khan, S. N., Ahmed, Z. M., Riazuddin, S., Waryah, A. M., Chhatre, D., Starost, M. F., Ploplis, B., Buckley, S., Velasquez, D., Kabra, M., Lee, K., and 11 others. <strong>Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.</strong> Am. J. Hum. Genet. 85: 25-39, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576567[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/10.1016/j.ajhg.2009.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19576567">Schultz et al. (2009)</a> identified homozygosity for a 495G-A transition in exon 5 of the HGF gene, resulting in a synonymous ser165-to-ser (S165S) substitution. The transition occurs 13 nucleotides into exon 5 relative to the exon 5a splice acceptor site of HGF isoform-1, but at the -3 position (483-3G-A) relative to the exon 5b splice acceptor site of HGF isoform-3, and is predicted to alter the relative strengths of the 2 splice acceptor sites. In vitro assay using a construct with the 495G-A transition produced clones with the exon 5b splice acceptor site exclusively. The 495G-A transition was not found in 1,040 chromosomes from Pakistani, Caucasian, and Human Diversity Panel controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19576567" 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://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016090" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016090" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016090</a>
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<p>In affected members of 36 Pakistani and 2 Indian families segregating recessive profound prelingual deafness (DFNB39; <a href="/entry/608265">608265</a>), <a href="#22" class="mim-tip-reference" title="Schultz, J. M., Khan, S. N., Ahmed, Z. M., Riazuddin, S., Waryah, A. M., Chhatre, D., Starost, M. F., Ploplis, B., Buckley, S., Velasquez, D., Kabra, M., Lee, K., and 11 others. <strong>Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.</strong> Am. J. Hum. Genet. 85: 25-39, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576567[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/10.1016/j.ajhg.2009.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19576567">Schultz et al. (2009)</a> identified homozygosity for a 3-bp deletion (1986delTGA) in intron 4 of the HGF gene, within a highly conserved sequence that is part of the 3-prime untranslated region of a previously undescribed short form of HGF, predicted to encode 24 additional amino acids before encountering a stop codon. Heterozygosity for the 3-bp deletion was found in 2 of 429 Pakistani controls, but the mutation was not found in 415 Caucasian, Indian, or Human Diversity Panel controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19576567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 DEAFNESS, AUTOSOMAL RECESSIVE 39</strong>
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HGF, 10-BP DEL, NT482+1991
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000016091" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000016091" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000016091</a>
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<p>In affected members of 2 Pakistani families ('PKDF601' and 'DEM4472') segregating recessive profound prelingual deafness (DFNB39; <a href="/entry/608265">608265</a>), <a href="#22" class="mim-tip-reference" title="Schultz, J. M., Khan, S. N., Ahmed, Z. M., Riazuddin, S., Waryah, A. M., Chhatre, D., Starost, M. F., Ploplis, B., Buckley, S., Velasquez, D., Kabra, M., Lee, K., and 11 others. <strong>Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.</strong> Am. J. Hum. Genet. 85: 25-39, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19576567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19576567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19576567[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/10.1016/j.ajhg.2009.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19576567">Schultz et al. (2009)</a> identified homozygosity for a 10-bp deletion (482+1991delGATGATGAAA) in intron 4 of the HGF gene, within a highly conserved sequence that is part of the 3-prime untranslated region of a previously undescribed short form of HGF, predicted to encode 24 additional amino acids before encountering a stop codon. The 10-bp deletion was not found in 1,688 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19576567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<strong>Localization of hepatocyte growth factor (HGF) gene on human chromosome 7.</strong>
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Genomics 12: 147-150, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1531136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1531136</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1531136" 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/10.1016/0888-7543(92)90417-q" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 9/18/2012
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Paul J. Converse - updated : 10/20/2011<br>Paul J. Converse - updated : 10/28/2010<br>Cassandra L. Kniffin - updated : 9/15/2009<br>Marla J. F. O'Neill - updated : 7/30/2009<br>Marla J. F. O'Neill - updated : 1/19/2005<br>Jane Kelly - updated : 7/26/2004<br>Ada Hamosh - updated : 10/29/2003<br>Ada Hamosh - updated : 2/21/2003<br>Dawn Watkins-Chow - updated : 6/12/2002<br>Paul J. Converse - updated : 1/28/2002<br>Ada Hamosh - updated : 9/21/2001<br>Moyra Smith - updated : 12/13/1996
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Victor A. McKusick : 12/29/1989
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carol : 02/16/2015
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alopez : 9/19/2012<br>terry : 9/18/2012<br>mgross : 10/20/2011<br>mgross : 10/20/2011<br>terry : 10/20/2011<br>mgross : 10/28/2010<br>wwang : 9/24/2009<br>ckniffin : 9/15/2009<br>wwang : 8/12/2009<br>wwang : 8/12/2009<br>terry : 7/30/2009<br>carol : 1/20/2005<br>terry : 1/19/2005<br>tkritzer : 7/27/2004<br>terry : 7/26/2004<br>alopez : 11/7/2003<br>alopez : 10/29/2003<br>terry : 10/29/2003<br>alopez : 2/25/2003<br>terry : 2/21/2003<br>cwells : 6/12/2002<br>mgross : 1/28/2002<br>alopez : 9/24/2001<br>terry : 9/21/2001<br>carol : 9/20/1999<br>mark : 12/13/1996<br>jenny : 12/12/1996<br>mark : 12/9/1996<br>terry : 11/19/1996<br>terry : 3/7/1995<br>pfoster : 4/20/1994<br>carol : 6/30/1992<br>carol : 6/26/1992<br>supermim : 3/16/1992<br>carol : 2/22/1992
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<strong>*</strong> 142409
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HEPATOCYTE GROWTH FACTOR; HGF
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SCATTER FACTOR; SF<br />
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LUNG FIBROBLAST-DERIVED MITOGEN<br />
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HEPATOPOIETIN A
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<strong><em>HGNC Approved Gene Symbol: HGF</em></strong>
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Cytogenetic location: 7q21.11
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Phenotype
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7q21.11
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Deafness, autosomal recessive 39
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608265
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Autosomal recessive
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Plasma from patients with fulminant hepatic failure contains a factor that stimulates the growth of adult rat hepatocytes in primary culture. Gohda et al. (1988) purified HGF from a patient's plasma and showed that it has multiple forms with molecular mass between 76 and 92 kD. HGF consists of 2 chains, heavy and light, with molecular mass of 54 to 65 kD and 31.5 and 34.5 kD, respectively. These chains are linked together by disulfide bonds. Miyazawa et al. (1989) and Nakamura et al. (1989) sequenced cDNAs encoding HGF. The deduced sequence of the pre-pro-protein consisted of 728 amino acid residues. The sequence showed that the heavy and light chains are encoded by the same mRNA and are produced from a common translation product by proteolytic processing. The difference in deduced number of amino acid residues probably indicates that HGF is distinct from hepatocyte stimulatory factor (HSF), which is the same as interferon beta-2 (147620). </p><p>Rubin et al. (1991) studied a mitogen derived from lung fibroblasts which, if not identical to HGF, is closely related to it. They showed that their human lung fibroblast-derived mitogen had a spectrum of targets including endothelial cells and melanocytes in addition to epithelial cells. </p><p>Gherardi and Stoker (1990) found that HGF is structurally similar, if not identical, to scatter factor, a molecule shown to stimulate the dissociation and scattering of epithelial cells. The sequence of HGF has about 35% identity to that of plasminogen (173350) and the putative cleavage site of HGF is identical to that of plasminogen. A potent mitogen for hepatocytes, HGF is also known as hepatopoietin A (HBGA) (Szpirer et al., 1992). </p><p>Weidner et al. (1991) presented structural and functional evidence that human scatter factor (SF) and human HGF are identical proteins encoded by a single gene. Lung fibroblast-derived mitogen is also coded by the same gene. The HGF cellular receptor gene, the MET oncogene (164860), is located on 7q with the HGF gene. Thus, cells with polysomy of chromosome 7 may simultaneously overproduce both the factor and its receptor and acquire invasive properties through an autocrine mechanism. An increase in the copy number of chromosome 7 is one of the most common chromosome abnormalities observed in human malignant gliomas (137800). </p><p>Schultz et al. (2009) determined that HGF shares 88% identity with its mouse homolog. The authors stated that there are multiple isoforms of HGF. HGF isoform-1 encodes a preprotein that is cleaved into alpha and beta chains. The alpha chain is composed of a hairpin loop follow by 4 N-terminal kringle domains, and the beta chain has homology to trypsin-like serine proteases but has no catalytic function. HGF isoform-2 encodes only 2 kringle domains, and HGF isoform-3 and isoform-4 are similar to 1 and 2, respectively, differing only in the use of alternate exon 5b splice acceptor site. Isoform-5 encodes only 1 kringle domain and utilizes the exon 5a acceptor site. Schultz et al. (2009) identified 2 additional short isoforms of HGF including exons 1 to 4 and a 3-prime untranslated region transcribed from intron 4. </p>
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<strong>Mapping</strong>
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<p>Fukuyama et al. (1991) assigned the HGF gene to chromosome 7 by spot-blot hybridization using flow-sorted chromosomes. By in situ hybridization, the gene was further localized to the centromeric region of band 7q21. The location can be stated to be 7q21.1. By in situ hybridization, Weidner et al. (1991) mapped the gene to 7q11.2-q21. Zarnegar et al. (1992) assigned the gene to chromosome 7 by Southern analysis of human/hamster somatic cell hybrids. By the analysis of somatic cell hybrid DNA, Szpirer et al. (1992) assigned the HGF gene to human chromosome 7 and rat chromosome 4. Saccone et al. (1992) used a nonisotopic in situ hybridization method to map HGF to 7q21.1. </p>
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<strong>Gene Function</strong>
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<p>Kilby et al. (1996) found that the protein and mRNA for both hepatocyte growth factor and its receptor (MET) are present in third trimester placentas, suggesting that HGF serves as a paracrine mediator to control placental development and growth. </p><p>B cells develop in the bone marrow from progenitor cells that have been designated pre-pro-B cells, pro-B cells (no immunoglobulin, or Ig, chains chosen), pre-B cells (which have selected a heavy chain but not a light chain), and finally B cells (which express both heavy and light chains of the Ig molecule). Differentiation of pre-pro-B cells to pro-B cells requires signaling through IL7 receptor (IL7R; 146661) mediated by the pre-pro-B cell growth-stimulating factor (PPBSF), which consists of IL7 (146660) and a 30-kD protein cofactor. By amino acid sequencing and RT-PCR analysis, Lai and Goldschneider (2001) determined that the PPBSF cofactor is the 30-kD beta chain of HGF (HGFB) produced independently of the 60-kD alpha chain of HGF. Formation of an IL7-HGFB heterodimer requires the presence of heparin sulfate. Functional analysis indicated that either IL7 or HGFB can maintain the viability of pre-pro-B cells, but only the heterodimer can stimulate their proliferation and differentiation into pro-B cells. Lai and Goldschneider (2001) concluded that PPBSF is a novel form of cytokine, a hybrid cytokine, consisting of the bioactive components of 2 unrelated cytokines. They proposed that through its heparin-binding and mitogenic properties, HGFB enables IL7 to participate in cognate interactions at the stromal cell surface and transduce signals effectively at low levels of IL7R. </p><p>To explore the role of sinusoidal endothelial cells in the adult liver, LeCouter et al. (2003) studied the effects of VEGF receptor (VEGFR1; 165070) activation on mouse hepatocyte growth. Delivery of VEGFA (192240) increased liver mass in mice but did not stimulate growth of hepatocytes in vitro unless liver sinusoidal endothelial cells were also present in the culture. HGF was identified as one of the liver sinusoidal endothelial cell-derived paracrine mediators promoting hepatocyte growth. Selective activation of VEGFR1 stimulated hepatocyte but not endothelial proliferation in vivo and reduced liver damage in mice exposed to a hepatotoxin. </p><p>Carrolo et al. (2003) demonstrated that wounding of hepatocytes by migration of sporozoites of the rodent malarial parasite Plasmodium berghei induced secretion of HGF, which rendered hepatocytes susceptible to infection. Infection depended on activation of the HGF receptor, MET (164860), by secreted HGF. The malaria parasite exploited MET not as a primary binding site, but as a mediator of signals that made host cells susceptible to infection. HGF/MET signaling induced rearrangements of the host-cell actin cytoskeleton that were required for early development of parasites within hepatocytes. </p><p>Kaushansky and Kappe (2011) sought to determine if the mechanism of HGF induction by P. berghei described by Carrolo et al. (2003) applied to other Plasmodium species. They were able to reproduce the findings with P. berghei, but not with another rodent malaria parasite, P. yoelii, or with the human parasite, P. falciparum. Rodriguez and Mota (2011) concurred with the findings, but noted that the different rodent models remain useful in understanding the mechanisms underlying Plasmodium infection and contribute to future strategies to combat malaria. </p><p>NK4, which consists of the N-terminal hairpin domain and 4 kringle domains of the alpha chain of HGF, acts as an HGF antagonist and angiogenesis inhibitor. Wen et al. (2007) found that treating mice repeatedly with human NK4 gene therapy inhibited colon cancer growth and metastasis. </p><p>Straussman et al. (2012) developed a coculture system to systematically assay the ability of 23 stromal cell types to influence the innate resistance of 45 cancer cell lines to 35 anticancer drugs. They found that stroma-mediated resistance is common, particularly to targeted agents. Proteomic analysis showed that stromal cell secretion of HGF resulted in activation of the HGF receptor MET, reactivation of the mitogen-activated protein kinase (MAPK) and phosphatidylinositol-3-OH kinase (PI(3)K)-AKT signaling pathways, and immediate resistance to RAF inhibition. Immunohistochemistry experiments confirmed stromal cell expression of HGF in patients with BRAF (164757)-mutant melanoma and showed a significant correlation between HGF expression by stromal cells and innate resistance to RAF inhibitor treatment. Dual inhibition of RAF and either HGF or MET resulted in reversal of drug resistance, suggesting RAF plus HGF or MET inhibitory combination therapy as a potential therapeutic strategy for BRAF-mutant melanoma. A similar resistance mechanism was uncovered in a subset of BRAF-mutant colorectal and glioblastoma cell lines. </p><p>Wilson et al. (2012) independently found that HGF confers resistance to the BRAF inhibitor PLX4032 (vemurafenib) in BRAF-mutant melanoma cells, and generalized that there is extensive redundancy of receptor tyrosine kinase (RTK)-transduced signaling in cancer cells and the potentially broad role of widely expressed RTK ligands in innate and acquired resistance to drugs targeting oncogenic kinases. </p>
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<strong>Molecular Genetics</strong>
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<p>Ma et al. (2009) identified a cis-acting DNA element located 750 bp upstream from the transcription start site of the human HGF promoter that acts as a transcriptional repressor. The promoter element consists of a mononucleotide repeat of 30 deoxyadenosines (30As), which the authors termed 'deoxyadenosine tract element' (DATE). A scan of human breast cancer (114480) cells overexpressing HGF identified somatic truncating mutations within the DATE region of the HGF gene that modulated chromatin structure and DNA-protein interactions, leading to constitutive activation of the HGF promoter. Truncating DATE variants with 25 or fewer deoxyadenosines were found in breast cancer tumors of 51% of African Americans and 15% of individuals of mixed European descent. Notably, breast cancer patients with the truncated DATE variant were substantially younger than those with a wildtype genotype. Truncated DATE also occurred in normal individuals, indicating that it is polymorphic and may be a modifier of predisposition to disease. </p><p><strong><em>Autosomal Recessive Deafness 39</em></strong></p><p>
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In Pakistani and Indian families with autosomal recessive profound prelingual deafness mapping to chromosome 7q11.22-q21.12 (DFNB39; 608265), Schultz et al. (2009) identified 3 mutations in the HGF gene: a synonymous substitution in exon 5 (142409.0001) and a 3-bp and a 10-bp deletion in intron 4 (142409.0002 and 142409.0003, respectively). The synonymous substitution was shown to affect splicing in vitro, and the 2 deletions occur in a highly conserved sequence that is part of the 3-prime untranslated region of a previously undescribed short isoform of HGF. </p>
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<p>Schmidt et al. (1995) and Uehara et al. (1995) produced targeted disruption of the HGF gene in mice and found that mice lacking the gene product fail to develop completely and die in utero. The mutation affects the embryonic liver, which is reduced in size and shows extensive loss of parenchymal cells. In addition, development of the placenta, particularly of trophoblast cells, is impaired. HGF/SF is thought to mediate a signal exchange between the mesenchyme and epithelia during mouse development. Both the HGF gene and the gene for its receptor, the product of the MET protooncogene (164860), are expressed in many tissues during embryonic development and in the adult. The findings of these studies indicate that HGF/SF is an essential mediator of allantoic mesenchyme-trophoblastic epithelia interaction required for placental organogenesis. </p><p>Maina et al. (1996) reported that HGF and MET are determinants of placenta, liver, and muscle development. They demonstrated that Met function in vivo requires signaling via 2 C-terminal tyrosines. For this purpose they introduced point mutations into the multifunctional docking sites of the mouse Met receptor (Y(1349)VHVNATY(1356)VNV) using the 'knock in' approach described by Hanks et al. (1995). These 2 phosphotyrosines in the C-terminal tail act as multifunctional docking sites for SH2-containing effectors. Maina et al. (1996) demonstrated that mutation of both of these residues in the mouse genome caused embryonal death with placental liver and limb muscle defects, mimicking the phenotype of Met-null mutants. They noted that the Y(1356)VNV motif in particular binds Grb2 (108355) and links the receptor with Ras (see 190020). They disrupted the consensus sequences for Grb2 binding and reported that development proceeded to term without affecting placenta and liver but caused a striking reduction in limb muscle coupled to a generalized deficit of secondary fibers. Maina et al. (1996) concluded that these data showed tissue-specific differences in MET signaling and revealed a novel role for HGF in late myogenesis. </p><p>Murine melanocytes ordinarily are confined to hair follicles. The skin of transgenic mice in which a metallothionein gene promoter forces the overexpression of Hgf/Sf has melanocytes in the dermis, epidermis, and dermal-ectodermal junction, and is thus more akin to human skin. Noonan et al. (2001) subjected albino Hgf/Sf transgenic mice and wildtype littermates to erythemal ultraviolet irradiation at 3.5 days of age, 6 weeks of age, or both. A single neonatal dose, which was 30-fold lower than the total ultraviolet dose administered previously to adult mice, was sufficient to induce melanoma in Hgf/Sf-transgenic mice after a relatively short latent period and with high cumulative incidence. This neonatal dose roughly corresponds to a sunburning dose of natural sunlight at midlatitudes in midsummer. Melanoma development in the transgenic mice after ultraviolet irradiation at both 3.5 days and 6 weeks was indistinguishable from that seen after only a single exposure at 3.5 days, whereas a similar dose at 6 weeks was not tumorigenic. However, the second exposure to ultraviolet light increased the multiplicity of melanocytic lesions as well as the incidence of nonmelanocytic tumors, including squamous cell carcinoma and sarcoma. Melanomas were not seen in either nontransgenic or untreated transgenic mice during the course of the experiment. </p><p>Using in situ hybridization and immunoblotting, Powell et al. (2001) detected expression of Hgf and Met in the cerebral wall and ganglionic eminence of the developing mouse forebrain. Using conditioned media and forebrain explants for scatter assays, Powell et al. (2001) concluded that the forebrain exhibits regionally specific motogenic activity attributable to Hgf. Powell et al. (2001) hypothesized that HGF is a key molecular constituent in guiding interneuron migration from the ganglionic eminence to the cerebral cortex. </p><p>Jin et al. (2004) found that overexpression of HGF in the retinal pigment epithelium (RPE) in rabbits induced chronic serous retinal detachment with subretinal proliferation of RPE. </p><p>Using lentiviral vector technology to deliver uncleavable Hgf to mice, Mazzone et al. (2004) found that uncleavable Hgf inhibited both protease-mediated pro-Hgf conversion and active Hgf-induced Met receptor activation; that local expression of uncleavable Hgf in tumors suppressed tumor growth, impaired tumor angiogenesis, and prevented metastatic dissemination; and that systemic expression of uncleavable Hgf dramatically inhibited the growth of transplanted tumors and abolished the formation of spontaneous metastases without perturbing vital physiologic functions. Mazzone et al. (2004) concluded that proteolytic activation of pro-HGF is a limiting step in tumor progression. </p><p>Schultz et al. (2009) generated mice with a conditional knockout of Hgf in the inner ear and observed morphologic defects of the inner ear not seen in littermate controls, including a disorganized tectorial membrane onto which the Reissner membrane was collapsed, thin and flattened stria vascularis with occasional clumps of cellular proliferation, hypoplastic spiral ganglion, and outer hair cell (OHC) degeneration throughout the organ of Corti. MH19-Hgf transgenic mice overexpressing Hgf by 3- to 50-fold had an average 60-dB greater auditory-evoked brainstem response (ABR) threshold compared to littermate controls, consistent with the loss of cochlear amplification due to OHC degeneration. Inspection of the organ of Corti confirmed OHC degeneration in a spatial gradient, from complete OHC loss at the base to near-normal complement of OHCs at the apex; inner hair cells appeared normal. </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>3 Selected Examples):</strong>
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</span>
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</h4>
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<h4>
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<span class="mim-font">
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<strong>.0001 DEAFNESS, AUTOSOMAL RECESSIVE 39</strong>
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</h4>
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HGF, SER165SER
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SNP: rs137853235,
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gnomAD: rs137853235,
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ClinVar: RCV000016089
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<p>In 3 affected members of a consanguineous Pakistani family ('family PKDF210') segregating profound prelingual deafness (DFNB39; 608265), Schultz et al. (2009) identified homozygosity for a 495G-A transition in exon 5 of the HGF gene, resulting in a synonymous ser165-to-ser (S165S) substitution. The transition occurs 13 nucleotides into exon 5 relative to the exon 5a splice acceptor site of HGF isoform-1, but at the -3 position (483-3G-A) relative to the exon 5b splice acceptor site of HGF isoform-3, and is predicted to alter the relative strengths of the 2 splice acceptor sites. In vitro assay using a construct with the 495G-A transition produced clones with the exon 5b splice acceptor site exclusively. The 495G-A transition was not found in 1,040 chromosomes from Pakistani, Caucasian, and Human Diversity Panel controls. </p>
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<h4>
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<span class="mim-font">
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<strong>.0002 DEAFNESS, AUTOSOMAL RECESSIVE 39</strong>
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</span>
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HGF, 3-BP DEL, 1986TGA
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<br />
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SNP: rs1788701297,
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ClinVar: RCV000016090
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<span class="mim-text-font">
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<p>In affected members of 36 Pakistani and 2 Indian families segregating recessive profound prelingual deafness (DFNB39; 608265), Schultz et al. (2009) identified homozygosity for a 3-bp deletion (1986delTGA) in intron 4 of the HGF gene, within a highly conserved sequence that is part of the 3-prime untranslated region of a previously undescribed short form of HGF, predicted to encode 24 additional amino acids before encountering a stop codon. Heterozygosity for the 3-bp deletion was found in 2 of 429 Pakistani controls, but the mutation was not found in 415 Caucasian, Indian, or Human Diversity Panel controls. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 DEAFNESS, AUTOSOMAL RECESSIVE 39</strong>
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</span>
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</h4>
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<div>
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<span class="mim-text-font">
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HGF, 10-BP DEL, NT482+1991
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<br />
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ClinVar: RCV000016091
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<span class="mim-text-font">
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<p>In affected members of 2 Pakistani families ('PKDF601' and 'DEM4472') segregating recessive profound prelingual deafness (DFNB39; 608265), Schultz et al. (2009) identified homozygosity for a 10-bp deletion (482+1991delGATGATGAAA) in intron 4 of the HGF gene, within a highly conserved sequence that is part of the 3-prime untranslated region of a previously undescribed short form of HGF, predicted to encode 24 additional amino acids before encountering a stop codon. The 10-bp deletion was not found in 1,688 control chromosomes. </p>
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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Fukuyama, R., Ichijoh, Y., Minoshima, S., Kitamura, N., Shimizu, N.
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<strong>Regional localization of the hepatocyte growth factor (HGF) gene to human chromosome 7 band q21.1.</strong>
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Science 269: 679-682, 1995.
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Kaushansky, A., Kappe, S. H. I.
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Lai, L., Goldschneider, I.
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Ma, J., DeFrances, M. C., Zou, C., Johnson, C., Ferrell, R., Zarnegar, R.
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Maina, F., Casagranda, F., Audero, E., Simeone, A., Comoglio, P. M., Klein, R., Ponzetto, C.
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Miyazawa, K., Tsubouchi, H., Naka, D., Takahashi, K., Okigaki, M., Arakaki, N., Nakayama, H., Hirono, S., Sakiyama, O., Takahashi, K., Gohda, E., Daikuhara, Y., Kitamura, N.
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Noonan, F. P., Recio, J. A., Takayama, H., Duray, P., Anver, M. R., Rush, W. L., De Fabo, E. C., Merlino, G.
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Powell, E. M., Mars, W. M., Levitt, P.
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[PubMed: 11343646]
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<strong>Reply to Kaushansky and Kappe. (Letter)</strong>
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Nature Med. 17: 1181 only, 2011.
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<p class="mim-text-font">
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Rubin, J. S., Chan, A. M.-L., Bottaro, D. P., Burgess, W. H., Taylor, W. G., Cech, A. C., Hirschfield, D. W., Wong, J., Miki, T., Finch, P. W., Aaronson, S. A.
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<strong>A broad-spectrum human lung fibroblast-derived mitogen is a variant of hepatocyte growth factor.</strong>
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Proc. Nat. Acad. Sci. 88: 415-419, 1991.
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[PubMed: 1824873]
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[Full Text: https://doi.org/10.1073/pnas.88.2.415]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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