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<title>
Entry
- *614730 - PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS O PROTEIN; PIGO
- OMIM
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<span class="h4">*614730</span>
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<strong>Table of Contents</strong>
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<li role="presentation">
<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> Genome
</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000165282;t=ENST00000378617" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=84720" 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>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=614730" 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-heading mim-panel-heading" role="tab" id="mimDna">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> DNA
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<div class="panel-body small mim-panel-body">
<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000165282;t=ENST00000378617" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001201484,NM_032634,NM_152850,XM_005251619,XM_047423974" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_032634" 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>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=614730" 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">
<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
<span class="panel-title">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> Protein
</a>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.proteinatlas.org/search/PIGO" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/protein/2984587,12654409,15559263,18676476,20152314,20809631,21739535,21748554,23397648,37182067,38045917,40807018,54887357,61252289,119578801,119578802,119578803,119578804,319918882,530390224,2217381867,2462626884,2462626886" 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>
<div><a href="https://www.uniprot.org/uniprotkb/Q8TEQ8" 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>
</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="http://biogps.org/#goto=genereport&id=84720" 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>
<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000165282;t=ENST00000378617" 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>
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=PIGO" 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>
<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=PIGO" 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>
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+84720" 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>
<dd><a href="http://v1.marrvel.org/search/gene/PIGO" 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>
<dd><a href="https://monarchinitiative.org/NCBIGene:84720" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
<div><a href="https://www.ncbi.nlm.nih.gov/gene/84720" 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>
<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr9&hgg_gene=ENST00000378617.4&hgg_start=35088688&hgg_end=35096591&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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23215" 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>
<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:23215" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
<div><a href="https://medlineplus.gov/genetics/gene/pigo" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614730[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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
<span class="panel-title">
<span class="small">
<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9660;</span> Variation
</a>
</span>
</span>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=614730[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>
<div><a href="https://www.deciphergenomics.org/gene/PIGO/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000165282" 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>
<div><a href="https://www.ebi.ac.uk/gwas/search?query=PIGO" 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&nbsp;</a></div>
<div><a href="https://www.gwascentral.org/search?q=PIGO" 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&nbsp;</a></div>
<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PIGO" 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>
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=PIGO&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>
<div><a href="https://www.pharmgkb.org/gene/PA134993507" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/gene/HGNC:23215" 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>
<div><a href="https://flybase.org/reports/FBgn0034346.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
<div><a href="https://www.mousephenotype.org/data/genes/MGI:1861452" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
<div><a href="http://v1.marrvel.org/search/gene/PIGO#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>
<div><a href="http://www.informatics.jax.org/marker/MGI:1861452" 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>
<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>
<div><a href="https://www.ncbi.nlm.nih.gov/gene/84720/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>
<div><a href="https://www.orthodb.org/?ncbi=84720" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00016159;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>
<div><a href="https://zfin.org/ZDB-GENE-091204-80" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
<span class="panel-title">
<span class="small">
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cellular Pathways</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:84720" 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>
<div><a href="https://reactome.org/content/query?q=PIGO&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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
&nbsp;
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Gene description">
<span class="text-danger"><strong>*</strong></span>
614730
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS O PROTEIN; PIGO
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="approvedGeneSymbols" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=PIGO" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PIGO</a></em></strong>
</span>
</p>
</div>
<div>
<a id="cytogeneticLocation" class="mim-anchor"></a>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: <a href="/geneMap/9/162?start=-3&limit=10&highlight=162">9p13.3</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:35088688-35096591&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'})">9:35,088,688-35,096,591</a> </span>
</em>
</strong>
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<a id="geneMap" class="mim-anchor"></a>
<div style="margin-bottom: 10px;">
<span class="h4 mim-font">
<strong>Gene-Phenotype Relationships</strong>
</span>
</div>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
</tr>
</thead>
<tbody>
<tr>
<td rowspan="1">
<span class="mim-font">
<a href="/geneMap/9/162?start=-3&limit=10&highlight=162">
9p13.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Hyperphosphatasia with impaired intellectual development syndrome 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614749"> 614749 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<p>Many proteins are anchored to cell surface membranes via a glycosylphosphatidylinositol (GPI) modification. PIGO is involved GPI biosynthesis in the endoplasmic reticulum (ER) and has a role in the transfer of phosphatidylethanolamine (PE) to the third mannose (Man3) of the GPI core (<a href="#1" class="mim-tip-reference" title="Hong, Y., Maeda, Y., Watanabe, R., Inoue, N., Ohishi, K., Kinoshita, T. &lt;strong&gt;Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol.&lt;/strong&gt; J. Biol. Chem. 275: 20911-20919, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10781593/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10781593&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M001913200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10781593">Hong et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10781593" 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>For information on the PIG gene family and the roles of PIG proteins in GPI biosynthesis, see PIGA (<a href="/entry/311770">311770</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Hong, Y., Maeda, Y., Watanabe, R., Inoue, N., Ohishi, K., Kinoshita, T. &lt;strong&gt;Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol.&lt;/strong&gt; J. Biol. Chem. 275: 20911-20919, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10781593/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10781593&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M001913200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10781593">Hong et al. (2000)</a> cloned mouse Pigo from a testis cDNA library, and they identified human PIGO by database analysis. The deduced 1,101-amino acid mouse protein has a transmembrane domain near the N terminus, followed by a hydrophilic region of about 400 amino acids and 15 transmembrane domains in the C-terminal half. The hydrophilic region contains motifs conserved in various phosphodiesterases and nucleotide pyrophosphatases. Pigo also has 2 potential N-glycosylation sites. Western blot analysis of transfected and fractionated CHO cells revealed that Pigo associated with ER membrane markers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10781593" 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>Gene Structure</strong>
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<p><a href="#1" class="mim-tip-reference" title="Hong, Y., Maeda, Y., Watanabe, R., Inoue, N., Ohishi, K., Kinoshita, T. &lt;strong&gt;Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol.&lt;/strong&gt; J. Biol. Chem. 275: 20911-20919, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10781593/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10781593&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M001913200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10781593">Hong et al. (2000)</a> determined that the PIGO gene contains 10 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10781593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<span class="mim-text-font">
<p><a href="#1" class="mim-tip-reference" title="Hong, Y., Maeda, Y., Watanabe, R., Inoue, N., Ohishi, K., Kinoshita, T. &lt;strong&gt;Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol.&lt;/strong&gt; J. Biol. Chem. 275: 20911-20919, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10781593/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10781593&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M001913200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10781593">Hong et al. (2000)</a> reported that the PIGO gene maps to chromosome 9p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10781593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Hong, Y., Maeda, Y., Watanabe, R., Inoue, N., Ohishi, K., Kinoshita, T. &lt;strong&gt;Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol.&lt;/strong&gt; J. Biol. Chem. 275: 20911-20919, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10781593/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10781593&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M001913200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10781593">Hong et al. (2000)</a> found that knockout of Pigo in F9 mouse embryonal carcinoma cells reduced, but did not eliminate, surface expression of Thy1 (<a href="/entry/188230">188230</a>), a protein that requires a GPI anchor for membrane association. In contrast, knockout of Pigf (<a href="/entry/600153">600153</a>) completely eliminated surface expression of Thy1. Knockout of either Pigo or Pigf resulted in accumulation of the same major GPI intermediate lacking PE on Man3, but different minor GPI intermediates. Protein pull-down assays revealed that Pigo and Pigf interacted; however, much of Pigf did not associate with Pigo. Expression of Pigo was much higher in the presence than in the absence of Pigf, whereas Pigf was stable in the absence of Pigo. <a href="#1" class="mim-tip-reference" title="Hong, Y., Maeda, Y., Watanabe, R., Inoue, N., Ohishi, K., Kinoshita, T. &lt;strong&gt;Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol.&lt;/strong&gt; J. Biol. Chem. 275: 20911-20919, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10781593/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10781593&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M001913200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10781593">Hong et al. (2000)</a> concluded that PIGO is involved in, but not essential for, GPI anchoring of proteins, whereas PIGF is essential for it. They hypothesized that PIGF may have other partners for transferring PE onto Man3, possibly resulting in a minor change in GPI structure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10781593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In the late phase of GPI biosynthesis, the major GPI species, H7, which has ethanolamine phosphate (EtNP) linked to Man3, is generated from the H6 species by an enzyme complex consisting of PIGO and PIGF. Using RNA interference, <a href="#3" class="mim-tip-reference" title="Shishioh, N., Hong, Y., Ohishi, K., Ashida, H., Maeda, Y., Kinoshita, T. &lt;strong&gt;GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol.&lt;/strong&gt; J. Biol. Chem. 280: 9728-9734, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15632136/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15632136&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M413755200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15632136">Shishioh et al. (2005)</a> found that knockdown of GPI7 (PIGG; <a href="/entry/616918">616918</a>) caused accumulation of H7 and deficiency of H8 in HeLa cells, suggesting that GPI7 is involved in transfer of EtNP to Man2 on H7 to form H8. Coprecipitation of transfected CHO cells revealed that human PIGF interacted with GPI7 and PIGO in independent complexes. Interaction with PIGF stabilized GPI7 and PIGO, and GPI7 competed with PIGO for binding to PIGF. Overexpression of GPI7 reduced content of PIGO and reduced generation of H7, likely by depletion of available PIGF and destabilization of PIGO. <a href="#3" class="mim-tip-reference" title="Shishioh, N., Hong, Y., Ohishi, K., Ashida, H., Maeda, Y., Kinoshita, T. &lt;strong&gt;GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol.&lt;/strong&gt; J. Biol. Chem. 280: 9728-9734, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15632136/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15632136&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M413755200&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15632136">Shishioh et al. (2005)</a> concluded that PIGF and PIGO interact for conversion of H6 to H7, and that PIGF and GPI7 interact for conversion of H7 to H8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15632136" 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 exome sequencing of 2 sisters with hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2; <a href="/entry/614749">614749</a>), <a href="#2" class="mim-tip-reference" title="Krawitz, P. M., Murakami, Y., Hecht, J., Kruger, U., Holder, S. E., Mortier, G. R., Delle Chiaie, B., De Baere, E., Thompson, M. D., Roscioli, T., Kielbasa, S., Kinoshita, T., Mundlos, S., Robinson, P. N., Horn, D. &lt;strong&gt;Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.&lt;/strong&gt; Am. J. Hum. Genet. 91: 146-151, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22683086/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22683086&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22683086[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.05.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22683086">Krawitz et al. (2012)</a> identified compound heterozygosity for 2 mutations in the PIGO gene (<a href="#0001">614730.0001</a> and <a href="#0002">614730.0002</a>). Sequencing of this gene in 11 additional patients with a similar disorder identified 1 patient who was compound heterozygous for 2 mutations (<a href="#0001">614730.0001</a> and <a href="#0003">614730.0003</a>). In vitro functional expression studies showed that the mutant proteins either lacked or had decreased functional activity. PIGO-deficient CHO cell lines had decreased cell surface placental alkaline phosphatase (ALP) activity with increased secretion of ALP, which was rescued by transfection with wildtype PIGO. The findings indicated that hyperphosphatasia in the patients with PIGO mutations is a result of release of ALP into the serum due to a defect in GPI anchoring of ALP to the cell membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22683086" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>3 Selected Examples</a>):</strong>
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<a href="/allelicVariants/614730" class="btn btn-default" role="button"> Table View </a>
&nbsp;&nbsp;<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=614730[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<a id="0001" class="mim-anchor"></a>
<h4>
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<strong>.0001&nbsp;HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2</strong>
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PIGO, LEU957PHE
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<p>In 2 sisters, born of unrelated British parents, with hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2; <a href="/entry/614749">614749</a>), <a href="#2" class="mim-tip-reference" title="Krawitz, P. M., Murakami, Y., Hecht, J., Kruger, U., Holder, S. E., Mortier, G. R., Delle Chiaie, B., De Baere, E., Thompson, M. D., Roscioli, T., Kielbasa, S., Kinoshita, T., Mundlos, S., Robinson, P. N., Horn, D. &lt;strong&gt;Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.&lt;/strong&gt; Am. J. Hum. Genet. 91: 146-151, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22683086/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22683086&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22683086[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.05.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22683086">Krawitz et al. (2012)</a> identified compound heterozygosity for 2 mutations in the PIGO gene: a 2869C-T transition resulting in a leu957-to-phe (L957F) substitution, and a 1-bp duplication (2361dupC; <a href="#0002">614730.0002</a>), resulting in a frameshift and premature termination (Thr788HisfsTer5). The mutations were detected by whole-exome sequencing and confirmed by Sanger sequencing. The L957F substitution occurs in a highly conserved residue in the transmembrane domain. Each unaffected parent was heterozygous for 1 of the mutations. Sequencing of the PIGO gene in 11 additional patients with a similar phenotype identified compound heterozygous mutations in 1 patient: L957F and a G-to-A transition in intron 8 (3069+5G-A; <a href="#0003">614730.0003</a>), resulting in the skipping of exon 9. The splice site mutation was found in 1 of 5,379 controls. In vitro functional expression studies demonstrated that the 2361dupC mutation did not result in restoration of CD59 (<a href="/entry/107271">107271</a>) expression at the cell surface of PIGO-deficient CHO cells, and that L957F induced only low levels of CD59 expression in these cells. The mutant truncated protein was expressed at high levels compared to wildtype, whereas the L957F protein was expressed at decreased levels. PIGO-deficient CHO cell lines had decreased cell surface placental alkaline phosphatase (ALP) activity with increased secretion of ALP, which was rescued by transfection with wildtype PIGO. The findings indicated that hyperphosphatasia in the patients with PIGO mutations is a result of release of ALP into the serum due to a defect in glycosylphosphatidylinositol (GPI) anchoring of ALP to the cell membrane. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22683086" 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&nbsp;HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2</strong>
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PIGO, 1-BP DUP, 2361C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs770591449 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs770591449;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs770591449?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs770591449" 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=rs770591449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000029246 OR RCV000487095" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000029246, RCV000487095" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000029246...</a>
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<p>For discussion of the 1-bp duplication in the PIGO gene (2361dupC) that was found in compound heterozygous state in 2 sisters with hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2; <a href="/entry/614749">614749</a>) by <a href="#2" class="mim-tip-reference" title="Krawitz, P. M., Murakami, Y., Hecht, J., Kruger, U., Holder, S. E., Mortier, G. R., Delle Chiaie, B., De Baere, E., Thompson, M. D., Roscioli, T., Kielbasa, S., Kinoshita, T., Mundlos, S., Robinson, P. N., Horn, D. &lt;strong&gt;Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.&lt;/strong&gt; Am. J. Hum. Genet. 91: 146-151, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22683086/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22683086&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22683086[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.05.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22683086">Krawitz et al. (2012)</a>, see <a href="#0001">614730.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22683086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<strong>.0003&nbsp;HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2</strong>
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PIGO, IVS8DS, G-A, +5
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&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">&#x25cf;</span> rs368953604 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs368953604;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs368953604?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">&#x25cf;</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs368953604" 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=rs368953604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
<span class="mim-text-font">
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000029247 OR RCV002247395" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000029247, RCV002247395" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000029247...</a>
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<p>For discussion of the splice site mutation in the PIGO gene (3069+5G-A) that was found in compound heterozygous state in 2 sisters with hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2; <a href="/entry/614749">614749</a>) by <a href="#2" class="mim-tip-reference" title="Krawitz, P. M., Murakami, Y., Hecht, J., Kruger, U., Holder, S. E., Mortier, G. R., Delle Chiaie, B., De Baere, E., Thompson, M. D., Roscioli, T., Kielbasa, S., Kinoshita, T., Mundlos, S., Robinson, P. N., Horn, D. &lt;strong&gt;Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.&lt;/strong&gt; Am. J. Hum. Genet. 91: 146-151, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22683086/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22683086&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22683086[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.05.004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22683086">Krawitz et al. (2012)</a>, see <a href="#0001">614730.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22683086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Hong2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hong, Y., Maeda, Y., Watanabe, R., Inoue, N., Ohishi, K., Kinoshita, T.
<strong>Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol.</strong>
J. Biol. Chem. 275: 20911-20919, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10781593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10781593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10781593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1074/jbc.M001913200" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Krawitz2012" class="mim-anchor"></a>
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Krawitz, P. M., Murakami, Y., Hecht, J., Kruger, U., Holder, S. E., Mortier, G. R., Delle Chiaie, B., De Baere, E., Thompson, M. D., Roscioli, T., Kielbasa, S., Kinoshita, T., Mundlos, S., Robinson, P. N., Horn, D.
<strong>Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.</strong>
Am. J. Hum. Genet. 91: 146-151, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22683086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22683086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22683086[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=22683086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2012.05.004" target="_blank">Full Text</a>]
</p>
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<a id="Shishioh2005" class="mim-anchor"></a>
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Shishioh, N., Hong, Y., Ohishi, K., Ashida, H., Maeda, Y., Kinoshita, T.
<strong>GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol.</strong>
J. Biol. Chem. 280: 9728-9734, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15632136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15632136</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15632136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1074/jbc.M413755200" target="_blank">Full Text</a>]
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Matthew B. Gross - updated : 01/10/2018
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<span class="mim-text-font">
Patricia A. Hartz - updated : 04/25/2016<br>Cassandra L. Kniffin - updated : 7/30/2012
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Creation Date:
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Patricia A. Hartz : 7/18/2012
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carol : 11/07/2022
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mgross : 01/10/2018<br>mgross : 04/25/2016<br>mcolton : 8/10/2015<br>carol : 9/6/2013<br>carol : 8/1/2012<br>ckniffin : 7/30/2012<br>mgross : 7/18/2012
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<strong>*</strong> 614730
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<span class="mim-font">
PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS O PROTEIN; PIGO
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<strong><em>HGNC Approved Gene Symbol: PIGO</em></strong>
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Cytogenetic location: 9p13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:35,088,688-35,096,591 </span>
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<strong>Gene-Phenotype Relationships</strong>
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Inheritance
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Phenotype <br /> mapping key
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9p13.3
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Hyperphosphatasia with impaired intellectual development syndrome 2
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614749
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Autosomal recessive
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3
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<strong>Description</strong>
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<p>Many proteins are anchored to cell surface membranes via a glycosylphosphatidylinositol (GPI) modification. PIGO is involved GPI biosynthesis in the endoplasmic reticulum (ER) and has a role in the transfer of phosphatidylethanolamine (PE) to the third mannose (Man3) of the GPI core (Hong et al., 2000). </p><p>For information on the PIG gene family and the roles of PIG proteins in GPI biosynthesis, see PIGA (311770).</p>
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<strong>Cloning and Expression</strong>
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<p>Hong et al. (2000) cloned mouse Pigo from a testis cDNA library, and they identified human PIGO by database analysis. The deduced 1,101-amino acid mouse protein has a transmembrane domain near the N terminus, followed by a hydrophilic region of about 400 amino acids and 15 transmembrane domains in the C-terminal half. The hydrophilic region contains motifs conserved in various phosphodiesterases and nucleotide pyrophosphatases. Pigo also has 2 potential N-glycosylation sites. Western blot analysis of transfected and fractionated CHO cells revealed that Pigo associated with ER membrane markers. </p>
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<strong>Gene Structure</strong>
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<p>Hong et al. (2000) determined that the PIGO gene contains 10 exons. </p>
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<strong>Mapping</strong>
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<p>Hong et al. (2000) reported that the PIGO gene maps to chromosome 9p13. </p>
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<strong>Gene Function</strong>
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<p>Hong et al. (2000) found that knockout of Pigo in F9 mouse embryonal carcinoma cells reduced, but did not eliminate, surface expression of Thy1 (188230), a protein that requires a GPI anchor for membrane association. In contrast, knockout of Pigf (600153) completely eliminated surface expression of Thy1. Knockout of either Pigo or Pigf resulted in accumulation of the same major GPI intermediate lacking PE on Man3, but different minor GPI intermediates. Protein pull-down assays revealed that Pigo and Pigf interacted; however, much of Pigf did not associate with Pigo. Expression of Pigo was much higher in the presence than in the absence of Pigf, whereas Pigf was stable in the absence of Pigo. Hong et al. (2000) concluded that PIGO is involved in, but not essential for, GPI anchoring of proteins, whereas PIGF is essential for it. They hypothesized that PIGF may have other partners for transferring PE onto Man3, possibly resulting in a minor change in GPI structure. </p><p>In the late phase of GPI biosynthesis, the major GPI species, H7, which has ethanolamine phosphate (EtNP) linked to Man3, is generated from the H6 species by an enzyme complex consisting of PIGO and PIGF. Using RNA interference, Shishioh et al. (2005) found that knockdown of GPI7 (PIGG; 616918) caused accumulation of H7 and deficiency of H8 in HeLa cells, suggesting that GPI7 is involved in transfer of EtNP to Man2 on H7 to form H8. Coprecipitation of transfected CHO cells revealed that human PIGF interacted with GPI7 and PIGO in independent complexes. Interaction with PIGF stabilized GPI7 and PIGO, and GPI7 competed with PIGO for binding to PIGF. Overexpression of GPI7 reduced content of PIGO and reduced generation of H7, likely by depletion of available PIGF and destabilization of PIGO. Shishioh et al. (2005) concluded that PIGF and PIGO interact for conversion of H6 to H7, and that PIGF and GPI7 interact for conversion of H7 to H8. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>By exome sequencing of 2 sisters with hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2; 614749), Krawitz et al. (2012) identified compound heterozygosity for 2 mutations in the PIGO gene (614730.0001 and 614730.0002). Sequencing of this gene in 11 additional patients with a similar disorder identified 1 patient who was compound heterozygous for 2 mutations (614730.0001 and 614730.0003). In vitro functional expression studies showed that the mutant proteins either lacked or had decreased functional activity. PIGO-deficient CHO cell lines had decreased cell surface placental alkaline phosphatase (ALP) activity with increased secretion of ALP, which was rescued by transfection with wildtype PIGO. The findings indicated that hyperphosphatasia in the patients with PIGO mutations is a result of release of ALP into the serum due to a defect in GPI anchoring of ALP to the cell membrane. </p>
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<h4>
<span class="mim-font">
<strong>ALLELIC VARIANTS</strong>
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<strong>3 Selected Examples):</strong>
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<p />
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<h4>
<span class="mim-font">
<strong>.0001 &nbsp; HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2</strong>
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<span class="mim-text-font">
PIGO, LEU957PHE
<br />
SNP: rs142164373,
ClinVar: RCV000029245
</span>
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<span class="mim-text-font">
<p>In 2 sisters, born of unrelated British parents, with hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2; 614749), Krawitz et al. (2012) identified compound heterozygosity for 2 mutations in the PIGO gene: a 2869C-T transition resulting in a leu957-to-phe (L957F) substitution, and a 1-bp duplication (2361dupC; 614730.0002), resulting in a frameshift and premature termination (Thr788HisfsTer5). The mutations were detected by whole-exome sequencing and confirmed by Sanger sequencing. The L957F substitution occurs in a highly conserved residue in the transmembrane domain. Each unaffected parent was heterozygous for 1 of the mutations. Sequencing of the PIGO gene in 11 additional patients with a similar phenotype identified compound heterozygous mutations in 1 patient: L957F and a G-to-A transition in intron 8 (3069+5G-A; 614730.0003), resulting in the skipping of exon 9. The splice site mutation was found in 1 of 5,379 controls. In vitro functional expression studies demonstrated that the 2361dupC mutation did not result in restoration of CD59 (107271) expression at the cell surface of PIGO-deficient CHO cells, and that L957F induced only low levels of CD59 expression in these cells. The mutant truncated protein was expressed at high levels compared to wildtype, whereas the L957F protein was expressed at decreased levels. PIGO-deficient CHO cell lines had decreased cell surface placental alkaline phosphatase (ALP) activity with increased secretion of ALP, which was rescued by transfection with wildtype PIGO. The findings indicated that hyperphosphatasia in the patients with PIGO mutations is a result of release of ALP into the serum due to a defect in glycosylphosphatidylinositol (GPI) anchoring of ALP to the cell membrane. </p>
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<div>
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<span class="mim-font">
<strong>.0002 &nbsp; HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
PIGO, 1-BP DUP, 2361C
<br />
SNP: rs770591449,
gnomAD: rs770591449,
ClinVar: RCV000029246, RCV000487095
</span>
</div>
<div>
<span class="mim-text-font">
<p>For discussion of the 1-bp duplication in the PIGO gene (2361dupC) that was found in compound heterozygous state in 2 sisters with hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2; 614749) by Krawitz et al. (2012), see 614730.0001. </p>
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</div>
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<h4>
<span class="mim-font">
<strong>.0003 &nbsp; HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
PIGO, IVS8DS, G-A, +5
<br />
SNP: rs368953604,
gnomAD: rs368953604,
ClinVar: RCV000029247, RCV002247395
</span>
</div>
<div>
<span class="mim-text-font">
<p>For discussion of the splice site mutation in the PIGO gene (3069+5G-A) that was found in compound heterozygous state in 2 sisters with hyperphosphatasia with impaired intellectual development syndrome-2 (HPMRS2; 614749) by Krawitz et al. (2012), see 614730.0001. </p>
</span>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Hong, Y., Maeda, Y., Watanabe, R., Inoue, N., Ohishi, K., Kinoshita, T.
<strong>Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol.</strong>
J. Biol. Chem. 275: 20911-20919, 2000.
[PubMed: 10781593]
[Full Text: https://doi.org/10.1074/jbc.M001913200]
</p>
</li>
<li>
<p class="mim-text-font">
Krawitz, P. M., Murakami, Y., Hecht, J., Kruger, U., Holder, S. E., Mortier, G. R., Delle Chiaie, B., De Baere, E., Thompson, M. D., Roscioli, T., Kielbasa, S., Kinoshita, T., Mundlos, S., Robinson, P. N., Horn, D.
<strong>Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.</strong>
Am. J. Hum. Genet. 91: 146-151, 2012.
[PubMed: 22683086]
[Full Text: https://doi.org/10.1016/j.ajhg.2012.05.004]
</p>
</li>
<li>
<p class="mim-text-font">
Shishioh, N., Hong, Y., Ohishi, K., Ashida, H., Maeda, Y., Kinoshita, T.
<strong>GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol.</strong>
J. Biol. Chem. 280: 9728-9734, 2005.
[PubMed: 15632136]
[Full Text: https://doi.org/10.1074/jbc.M413755200]
</p>
</li>
</ol>
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Matthew B. Gross - updated : 01/10/2018<br>Patricia A. Hartz - updated : 04/25/2016<br>Cassandra L. Kniffin - updated : 7/30/2012
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