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Entry
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- *610911 - RHO GTPase-ACTIVATING PROTEIN 31; ARHGAP31
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- OMIM
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<p>
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<span class="h4">*610911</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/610911">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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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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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000031081;t=ENST00000264245" 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=57514" 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=610911" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000031081;t=ENST00000264245" 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_020754,XM_006713714" 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_020754" 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=610911" 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="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=16697&isoform_id=16697_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/ARHGAP31" 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/85567232,85567234,119599979,119599980,186928844,221039634,296452881,578807628,929654280,1403730280,2209263683,2209263685,2462591623" 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/Q2M1Z3" 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=57514" 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=ENSG00000031081;t=ENST00000264245" 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=ARHGAP31" 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=ARHGAP31" 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+57514" 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/ARHGAP31" 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:57514" 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/57514" 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=chr3&hgg_gene=ENST00000264245.9&hgg_start=119294383&hgg_end=119420714&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:29216" 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://medlineplus.gov/genetics/gene/arhgap31" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=610911[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=610911[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ARHGAP31/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000031081" 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=ARHGAP31" 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=ARHGAP31" 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=ARHGAP31" 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=ARHGAP31&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/PA165696843" 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:29216" 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:1333857" 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/ARHGAP31#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:1333857" 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/57514/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=57514" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00009800;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-100922-256" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ARHGAP31&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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610911
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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RHO GTPase-ACTIVATING PROTEIN 31; ARHGAP31
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CDC42 GTPase-ACTIVATING PROTEIN; CDGAP<br />
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KIAA1204
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ARHGAP31" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ARHGAP31</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/3/571?start=-3&limit=10&highlight=571">3q13.32-q13.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:119294383-119420714&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'})">3:119,294,383-119,420,714</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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<a href="/geneMap/3/571?start=-3&limit=10&highlight=571">
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3q13.32-q13.33
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Adams-Oliver syndrome 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/100300"> 100300 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/610911" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/610911" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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<p>Rho GTPases regulate a variety of cellular functions, including proliferation and cytoskeletal dynamics, by cycling between inactive GDP-bound and active GTP-bound forms. This cycle is regulated by guanine nucleotide exchange factors and GTPase-activating proteins (GAPs). CDGAP is a GAP for the Rho GTPases CDC42 (<a href="/entry/116952">116952</a>) and RAC1 (<a href="/entry/602048">602048</a>), but not RhoA (ARHA; <a href="/entry/165390">165390</a>) (<a href="#6" class="mim-tip-reference" title="Tcherkezian, J., Triki, I., Stenne, R., Danek, E. I., Lamarche-Vane, N. <strong>The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.</strong> Biol. Cell 98: 445-456, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16519628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16519628</a>] [<a href="https://doi.org/10.1042/BC20050101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16519628">Tcherkezian et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16519628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By yeast 2-hybrid screening using a constitutively active Cdc42 mutant as bait, <a href="#3" class="mim-tip-reference" title="Lamarche-Vane, N., Hall, A. <strong>CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac.</strong> J. Biol. Chem. 273: 29172-29177, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9786927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9786927</a>] [<a href="https://doi.org/10.1074/jbc.273.44.29172" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9786927">Lamarche-Vane and Hall (1998)</a> cloned mouse Cdgap. The deduced 820-amino acid mouse protein has a calculated molecular mass of 89.6 kD. It is rich in both serines and charged amino acids and has a RhoGAP domain at its N terminus and potential protein kinase C (see <a href="/entry/176960">176960</a>) phosphorylation sites and 5 proline-rich SH3-binding motifs at its C terminus. Northern blot analysis of mouse tissues revealed ubiquitous expression, with highest levels in heart and lung. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9786927" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, <a href="#4" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong> DNA Res. 6: 337-345, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574462</a>] [<a href="https://doi.org/10.1093/dnares/6.5.337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10574462">Nagase et al. (1999)</a> cloned KIAA1204. The deduced protein contains 1,445 amino acids. RT-PCR ELISA detected moderate expression in all adult and fetal tissues examined except testis, in which KIAA1204 was not expressed. Moderate expression was also present in all specific brain regions examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574462" 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="Tcherkezian, J., Triki, I., Stenne, R., Danek, E. I., Lamarche-Vane, N. <strong>The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.</strong> Biol. Cell 98: 445-456, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16519628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16519628</a>] [<a href="https://doi.org/10.1042/BC20050101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16519628">Tcherkezian et al. (2006)</a> noted that long and short Cdgap isoforms are present in mouse. By database analysis, they identified KIAA1204 as human CDGAP. The 1,444-amino acid human CDGAP protein shares 76% identity with the 1,425-amino acid long form of mouse Cdgap. Human CDGAP contains an N-terminal RhoGAP domain, followed by a long stretch rich in both serines and charged residues. It has 2 central proline-rich sequences with consensus SH3-binding sites, 1 of which is conserved in mouse. Northern blot analysis of human fetal tissues detected a 7.5-kb transcript in all tissues examined, with highest levels in heart and muscle. A 1.35-kb transcript was also detected in heart and muscle, but not other fetal tissues examined. Immunoblot analysis revealed 250-, 155-, and 90-kD proteins in human fetal tissues. The 250-kD isoform was highly expressed in heart and muscle, whereas the 155- and 90-kD isoforms were mainly expressed in brain and kidney, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16519628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others. <strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong> Am. J. Hum. Genet. 88: 574-585, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21565291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21565291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[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.2011.04.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21565291">Southgate et al. (2011)</a> analyzed ARHGAP31 transcript expression in human fetal tissues and found abundant and ubiquitous expression in all tissues examined. Analysis of mouse embryos during early development showed that at 9.5 days postconception (dpc), the strongest expression is in the developing heart, with regional localization to the ventral walls of the primitive ventricle and primitive atrium. By 10.5 dpc, Arhgap31 expression becomes largely restricted to the developing ventricle, and expression in the primitive atrium becomes localized to its outer wall. At 11.5 dpc, Arhgap31 expression is primarily in the surface ectoderm, and strong expression overlies the entire heart field, symmetrical regions of the head and flank, and the apical regions of the hand and foot plates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21565291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others. <strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong> Am. J. Hum. Genet. 88: 574-585, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21565291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21565291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[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.2011.04.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21565291">Southgate et al. (2011)</a> stated that the ARHGAP31 gene contains 12 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21565291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others. <strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong> Am. J. Hum. Genet. 88: 574-585, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21565291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21565291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[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.2011.04.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21565291">Southgate et al. (2011)</a> identified the ARHGAP31 gene within a region on chromosome 3q13.31-q13.33 identified by linkage analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21565291" 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="#3" class="mim-tip-reference" title="Lamarche-Vane, N., Hall, A. <strong>CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac.</strong> J. Biol. Chem. 273: 29172-29177, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9786927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9786927</a>] [<a href="https://doi.org/10.1074/jbc.273.44.29172" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9786927">Lamarche-Vane and Hall (1998)</a> showed that mouse Cdgap had GAP activity against Rac1 and Cdc42, but not RhoA, in vitro, and that it downregulated Cdc42 and Rac1 in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9786927" 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="Tcherkezian, J., Triki, I., Stenne, R., Danek, E. I., Lamarche-Vane, N. <strong>The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.</strong> Biol. Cell 98: 445-456, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16519628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16519628</a>] [<a href="https://doi.org/10.1042/BC20050101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16519628">Tcherkezian et al. (2006)</a> found that, similar to mouse Cdgap, human CDGAP was active in vitro and in vivo on both CDC42 and RAC1, but not RhoA, and it was phosphorylated in vivo on serine and threonine residues. Like mouse Cdgap, human CDGAP interacted with ERK1 (MAPK3; <a href="/entry/601795">601795</a>) and ERK2 (MAPK1; <a href="/entry/176948">176948</a>), but it did so via a docking site distinct from the DEF domain in mouse Cdgap. Overexpression of CDGAP in COS-7 cells resulted in membrane blebbing, a feature typically associated with apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16519628" 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 yeast 2-hybrid and coimmunoprecipitation analyses, <a href="#2" class="mim-tip-reference" title="Danek, E. I., Tcherkezian, J., Triki, I., Meriane, M., Lamarche-Vane, N. <strong>Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site.</strong> J. Biol. Chem. 282: 3624-3631, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17158447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17158447</a>] [<a href="https://doi.org/10.1074/jbc.M610073200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17158447">Danek et al. (2007)</a> showed that CDGAP bound both glycogen synthase kinase-3A (GSK3A; <a href="/entry/606784">606784</a>) and GSK3B (<a href="/entry/605004">605004</a>) in human and mouse cells. GSK3 phosphorylated CDGAP both in vitro and in vivo on thr776 within the proline-rich domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17158447" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 families with congenital scalp defects and distal limb reduction anomalies mapping to chromosome 3q13 (Adams-Oliver syndrome-1, AOS1; <a href="/entry/100300">100300</a>), <a href="#5" class="mim-tip-reference" title="Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others. <strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong> Am. J. Hum. Genet. 88: 574-585, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21565291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21565291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[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.2011.04.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21565291">Southgate et al. (2011)</a> sequenced 4 candidate genes and identified heterozygosity for 2 different truncating mutations in the ARHGAP31 gene (<a href="#0001">610911.0001</a> and <a href="#0002">610911.0002</a>, respectively) that segregated with disease in each family. Functional analysis revealed that both mutations behave as dominant gain-of-function alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21565291" 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>.0001 ADAMS-OLIVER SYNDROME 1</strong>
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ARHGAP31, GLN683TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs387907031 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907031;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387907031" 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=rs387907031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023842" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023842" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023842</a>
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<p>In affected members of a large 5-generation family with congenital scalp defects and distal limb reduction anomalies (AOS1; <a href="/entry/100300">100300</a>), originally reported by <a href="#1" class="mim-tip-reference" title="Bonafede, R. P., Beighton, P. <strong>Autosomal dominant inheritance of scalp defects with ectrodactyly.</strong> Am. J. Med. Genet. 3: 35-41, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/474617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">474617</a>] [<a href="https://doi.org/10.1002/ajmg.1320030109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="474617">Bonafede and Beighton (1979)</a>, <a href="#5" class="mim-tip-reference" title="Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others. <strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong> Am. J. Hum. Genet. 88: 574-585, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21565291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21565291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[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.2011.04.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21565291">Southgate et al. (2011)</a> identified heterozygosity for a c.2047C-T transition (c.2047C-T, NM_020754.2) in exon 12 of the ARHGAP31 gene, resulting in a gln683-to-ter (Q683X) substitution. The mutation was not found in unaffected family members or in more than 2,000 control chromosomes. Quantitative RT-PCR of RNA extracted from patient and control lymphoblasts demonstrated stability of the mutant transcript compared to wildtype. Functional analysis in HEK293 cells revealed marked augmentation of GAP activity upon Cdc42 by the truncated protein relative to wildtype, resulting in a significant downregulation of the active GTPase. A significant decrease in the proliferative ability of G683X primary dermal fibroblasts compared to wildtype was observed. In a wound-healing migration assay, fibroblasts heterozygous for Q683X migrated at a significantly faster rate than similar wildtype fibroblasts, suggestive of altered cell motility. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=474617+21565291" 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>.0002 ADAMS-OLIVER SYNDROME 1</strong>
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ARHGAP31, 1-BP DEL, 3260A
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1559999373 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1559999373;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1559999373" 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=rs1559999373" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023843" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023843" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023843</a>
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<span class="mim-text-font">
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<p>In affected members of a large 4-generation family with congenital scalp defects and distal limb reduction anomalies (AOS1; <a href="/entry/100300">100300</a>), originally reported by <a href="#7" class="mim-tip-reference" title="Verdyck, P., Blaumeiser, B., Holder-Espinasse, M., Van Hul, W., Wuyts, W. <strong>Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.</strong> Clin. Genet. 69: 86-92, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16451141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16451141</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00552.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16451141">Verdyck et al. (2006)</a>, <a href="#5" class="mim-tip-reference" title="Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others. <strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong> Am. J. Hum. Genet. 88: 574-585, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21565291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21565291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[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.2011.04.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21565291">Southgate et al. (2011)</a> identified heterozygosity for a 1-bp deletion (c.3260delA, NM_020754.2) in exon 12 of the ARHGAP31 gene, predicted to cause a frameshift and premature termination of the protein (Lys1087SerfsTer4). The mutation was not found in unaffected family members or in more than 2,000 control chromosomes. Functional analysis in HEK293 cells revealed marked augmentation of GAP activity upon Cdc42 by the truncated protein relative to wildtype, resulting in a significant downregulation of the active GTPase. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16451141+21565291" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Bonafede1979" class="mim-anchor"></a>
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Bonafede, R. P., Beighton, P.
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<strong>Autosomal dominant inheritance of scalp defects with ectrodactyly.</strong>
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Am. J. Med. Genet. 3: 35-41, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/474617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">474617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=474617" 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/10.1002/ajmg.1320030109" target="_blank">Full Text</a>]
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Danek, E. I., Tcherkezian, J., Triki, I., Meriane, M., Lamarche-Vane, N.
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<strong>Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site.</strong>
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J. Biol. Chem. 282: 3624-3631, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17158447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17158447</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17158447" 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/10.1074/jbc.M610073200" target="_blank">Full Text</a>]
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<a id="Lamarche-Vane1998" class="mim-anchor"></a>
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Lamarche-Vane, N., Hall, A.
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<strong>CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac.</strong>
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J. Biol. Chem. 273: 29172-29177, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9786927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9786927</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9786927" 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/10.1074/jbc.273.44.29172" target="_blank">Full Text</a>]
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<a id="Nagase1999" class="mim-anchor"></a>
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Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
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DNA Res. 6: 337-345, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10574462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10574462</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10574462" 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/10.1093/dnares/6.5.337" target="_blank">Full Text</a>]
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Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others.
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<strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong>
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Am. J. Hum. Genet. 88: 574-585, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21565291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21565291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21565291[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21565291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.04.013" target="_blank">Full Text</a>]
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Tcherkezian, J., Triki, I., Stenne, R., Danek, E. I., Lamarche-Vane, N.
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<strong>The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.</strong>
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Biol. Cell 98: 445-456, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16519628/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16519628</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16519628" 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/10.1042/BC20050101" target="_blank">Full Text</a>]
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Verdyck, P., Blaumeiser, B., Holder-Espinasse, M., Van Hul, W., Wuyts, W.
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<strong>Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.</strong>
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Clin. Genet. 69: 86-92, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16451141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16451141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16451141" 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/10.1111/j.1399-0004.2006.00552.x" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 9/9/2011
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Marla J. F. O'Neill - updated : 5/26/2011<br>Matthew B. Gross - updated : 4/3/2007
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Alan F. Scott : 4/3/2007
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 04/10/2024
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<span class="mim-text-font">
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carol : 09/20/2013<br>carol : 2/7/2012<br>carol : 9/9/2011<br>carol : 5/26/2011<br>terry : 5/26/2011<br>carol : 6/8/2010<br>carol : 6/8/2010<br>mgross : 4/5/2007<br>mgross : 4/3/2007
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<span class="mim-font">
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<strong>*</strong> 610911
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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RHO GTPase-ACTIVATING PROTEIN 31; ARHGAP31
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</span>
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</h3>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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CDC42 GTPase-ACTIVATING PROTEIN; CDGAP<br />
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KIAA1204
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</span>
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</h4>
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</div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ARHGAP31</em></strong>
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</span>
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</p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 3q13.32-q13.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:119,294,383-119,420,714 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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3q13.32-q13.33
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</span>
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</td>
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<td>
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<span class="mim-font">
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Adams-Oliver syndrome 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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100300
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rho GTPases regulate a variety of cellular functions, including proliferation and cytoskeletal dynamics, by cycling between inactive GDP-bound and active GTP-bound forms. This cycle is regulated by guanine nucleotide exchange factors and GTPase-activating proteins (GAPs). CDGAP is a GAP for the Rho GTPases CDC42 (116952) and RAC1 (602048), but not RhoA (ARHA; 165390) (Tcherkezian et al., 2006). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By yeast 2-hybrid screening using a constitutively active Cdc42 mutant as bait, Lamarche-Vane and Hall (1998) cloned mouse Cdgap. The deduced 820-amino acid mouse protein has a calculated molecular mass of 89.6 kD. It is rich in both serines and charged amino acids and has a RhoGAP domain at its N terminus and potential protein kinase C (see 176960) phosphorylation sites and 5 proline-rich SH3-binding motifs at its C terminus. Northern blot analysis of mouse tissues revealed ubiquitous expression, with highest levels in heart and lung. </p><p>By sequencing clones obtained from a size-fractionated fetal brain cDNA library, Nagase et al. (1999) cloned KIAA1204. The deduced protein contains 1,445 amino acids. RT-PCR ELISA detected moderate expression in all adult and fetal tissues examined except testis, in which KIAA1204 was not expressed. Moderate expression was also present in all specific brain regions examined. </p><p>Tcherkezian et al. (2006) noted that long and short Cdgap isoforms are present in mouse. By database analysis, they identified KIAA1204 as human CDGAP. The 1,444-amino acid human CDGAP protein shares 76% identity with the 1,425-amino acid long form of mouse Cdgap. Human CDGAP contains an N-terminal RhoGAP domain, followed by a long stretch rich in both serines and charged residues. It has 2 central proline-rich sequences with consensus SH3-binding sites, 1 of which is conserved in mouse. Northern blot analysis of human fetal tissues detected a 7.5-kb transcript in all tissues examined, with highest levels in heart and muscle. A 1.35-kb transcript was also detected in heart and muscle, but not other fetal tissues examined. Immunoblot analysis revealed 250-, 155-, and 90-kD proteins in human fetal tissues. The 250-kD isoform was highly expressed in heart and muscle, whereas the 155- and 90-kD isoforms were mainly expressed in brain and kidney, respectively. </p><p>Southgate et al. (2011) analyzed ARHGAP31 transcript expression in human fetal tissues and found abundant and ubiquitous expression in all tissues examined. Analysis of mouse embryos during early development showed that at 9.5 days postconception (dpc), the strongest expression is in the developing heart, with regional localization to the ventral walls of the primitive ventricle and primitive atrium. By 10.5 dpc, Arhgap31 expression becomes largely restricted to the developing ventricle, and expression in the primitive atrium becomes localized to its outer wall. At 11.5 dpc, Arhgap31 expression is primarily in the surface ectoderm, and strong expression overlies the entire heart field, symmetrical regions of the head and flank, and the apical regions of the hand and foot plates. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Southgate et al. (2011) stated that the ARHGAP31 gene contains 12 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Southgate et al. (2011) identified the ARHGAP31 gene within a region on chromosome 3q13.31-q13.33 identified by linkage analysis. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lamarche-Vane and Hall (1998) showed that mouse Cdgap had GAP activity against Rac1 and Cdc42, but not RhoA, in vitro, and that it downregulated Cdc42 and Rac1 in vivo. </p><p>Tcherkezian et al. (2006) found that, similar to mouse Cdgap, human CDGAP was active in vitro and in vivo on both CDC42 and RAC1, but not RhoA, and it was phosphorylated in vivo on serine and threonine residues. Like mouse Cdgap, human CDGAP interacted with ERK1 (MAPK3; 601795) and ERK2 (MAPK1; 176948), but it did so via a docking site distinct from the DEF domain in mouse Cdgap. Overexpression of CDGAP in COS-7 cells resulted in membrane blebbing, a feature typically associated with apoptosis. </p><p>Using yeast 2-hybrid and coimmunoprecipitation analyses, Danek et al. (2007) showed that CDGAP bound both glycogen synthase kinase-3A (GSK3A; 606784) and GSK3B (605004) in human and mouse cells. GSK3 phosphorylated CDGAP both in vitro and in vivo on thr776 within the proline-rich domain. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 families with congenital scalp defects and distal limb reduction anomalies mapping to chromosome 3q13 (Adams-Oliver syndrome-1, AOS1; 100300), Southgate et al. (2011) sequenced 4 candidate genes and identified heterozygosity for 2 different truncating mutations in the ARHGAP31 gene (610911.0001 and 610911.0002, respectively) that segregated with disease in each family. Functional analysis revealed that both mutations behave as dominant gain-of-function alleles. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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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>2 Selected Examples):</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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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0001 ADAMS-OLIVER SYNDROME 1</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARHGAP31, GLN683TER
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<br />
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SNP: rs387907031,
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ClinVar: RCV000023842
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In affected members of a large 5-generation family with congenital scalp defects and distal limb reduction anomalies (AOS1; 100300), originally reported by Bonafede and Beighton (1979), Southgate et al. (2011) identified heterozygosity for a c.2047C-T transition (c.2047C-T, NM_020754.2) in exon 12 of the ARHGAP31 gene, resulting in a gln683-to-ter (Q683X) substitution. The mutation was not found in unaffected family members or in more than 2,000 control chromosomes. Quantitative RT-PCR of RNA extracted from patient and control lymphoblasts demonstrated stability of the mutant transcript compared to wildtype. Functional analysis in HEK293 cells revealed marked augmentation of GAP activity upon Cdc42 by the truncated protein relative to wildtype, resulting in a significant downregulation of the active GTPase. A significant decrease in the proliferative ability of G683X primary dermal fibroblasts compared to wildtype was observed. In a wound-healing migration assay, fibroblasts heterozygous for Q683X migrated at a significantly faster rate than similar wildtype fibroblasts, suggestive of altered cell motility. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 ADAMS-OLIVER SYNDROME 1</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ARHGAP31, 1-BP DEL, 3260A
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<br />
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SNP: rs1559999373,
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ClinVar: RCV000023843
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In affected members of a large 4-generation family with congenital scalp defects and distal limb reduction anomalies (AOS1; 100300), originally reported by Verdyck et al. (2006), Southgate et al. (2011) identified heterozygosity for a 1-bp deletion (c.3260delA, NM_020754.2) in exon 12 of the ARHGAP31 gene, predicted to cause a frameshift and premature termination of the protein (Lys1087SerfsTer4). The mutation was not found in unaffected family members or in more than 2,000 control chromosomes. Functional analysis in HEK293 cells revealed marked augmentation of GAP activity upon Cdc42 by the truncated protein relative to wildtype, resulting in a significant downregulation of the active GTPase. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Bonafede, R. P., Beighton, P.
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<strong>Autosomal dominant inheritance of scalp defects with ectrodactyly.</strong>
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Am. J. Med. Genet. 3: 35-41, 1979.
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[PubMed: 474617]
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[Full Text: https://doi.org/10.1002/ajmg.1320030109]
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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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Danek, E. I., Tcherkezian, J., Triki, I., Meriane, M., Lamarche-Vane, N.
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<strong>Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site.</strong>
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J. Biol. Chem. 282: 3624-3631, 2007.
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[PubMed: 17158447]
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[Full Text: https://doi.org/10.1074/jbc.M610073200]
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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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Lamarche-Vane, N., Hall, A.
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<strong>CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac.</strong>
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J. Biol. Chem. 273: 29172-29177, 1998.
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[PubMed: 9786927]
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[Full Text: https://doi.org/10.1074/jbc.273.44.29172]
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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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Nagase, T., Ishikawa, K., Kikuno, R., Hirosawa, M., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.</strong>
|
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DNA Res. 6: 337-345, 1999.
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[PubMed: 10574462]
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[Full Text: https://doi.org/10.1093/dnares/6.5.337]
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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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Southgate, L., Machado, R. D., Snape, K. M., Primeau, M., Dafou, D., Ruddy, D. M., Branney, P. A., Fisher, M., Lee, G. J., Simpson, M. A., He, Y., Bradshaw, T. Y., and 9 others.
|
|
<strong>Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.</strong>
|
|
Am. J. Hum. Genet. 88: 574-585, 2011.
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[PubMed: 21565291]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.04.013]
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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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Tcherkezian, J., Triki, I., Stenne, R., Danek, E. I., Lamarche-Vane, N.
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<strong>The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA.</strong>
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Biol. Cell 98: 445-456, 2006.
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[PubMed: 16519628]
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[Full Text: https://doi.org/10.1042/BC20050101]
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Verdyck, P., Blaumeiser, B., Holder-Espinasse, M., Van Hul, W., Wuyts, W.
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<strong>Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.</strong>
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Clin. Genet. 69: 86-92, 2006.
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[PubMed: 16451141]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2006.00552.x]
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Marla J. F. O'Neill - updated : 9/9/2011<br>Marla J. F. O'Neill - updated : 5/26/2011<br>Matthew B. Gross - updated : 4/3/2007
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