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<title>
Entry
- *601181 - RAN-BINDING PROTEIN 2; RANBP2
- OMIM
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<span class="h4">*601181</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>
</li>
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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>
</li>
<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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#biochemicalFeatures">Biochemical Features</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="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</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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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> Genome
</a>
</span>
</span>
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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=ENSG00000153201;t=ENST00000283195" 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=5903" 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=601181" 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>
</div>
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</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
<span class="panel-title">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> DNA
</a>
</span>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000153201;t=ENST00000283195" 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_001415871,NM_001415872,NM_001415873,NM_006267,XM_005264002,XM_005264007,XM_011511575,XM_011511576,XM_011511578,XM_017004624,XM_017004625,XM_047445367" 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_006267" 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=601181" 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>
</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="mimProtein">
<span class="panel-title">
<span class="small">
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">&#9658;</span> Protein
</a>
</span>
</span>
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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://hprd.org/summary?hprd_id=03111&isoform_id=03111_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>
<div><a href="https://www.proteinatlas.org/search/RANBP2" 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/624230,624232,857368,1009337,37727665,62088546,62822436,83305554,150418007,530368768,530368778,767919105,767919108,767919112,1034615624,1034615627,2217329988,2419471356,2419471361,2419471380,2462575770,2462575772,2462575774,2462575776,2462575778,2462575780,2462575782,2462575784" 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/P49792" 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>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
<span class="panel-title">
<span class="small">
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Gene Info</div>
</div>
</a>
</span>
</span>
</div>
<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=5903" 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=ENSG00000153201;t=ENST00000283195" 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=RANBP2" 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=RANBP2" 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+5903" 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/RANBP2" 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>
<div><a href="https://www.ncbi.nlm.nih.gov/gene/5903" 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=chr2&hgg_gene=ENST00000283195.11&hgg_start=108719482&hgg_end=109842301&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">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<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/genes/HGNC:9848" 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/ranbp2" 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=601181[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>
</div>
<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=601181[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://gnomad.broadinstitute.org/gene/ENSG00000153201" 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=RANBP2" 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=RANBP2" 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=RANBP2" 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=RANBP2&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/PA34209" 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">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<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:9848" 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/FBgn0039302.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:894323" 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/RANBP2#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:894323" 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/5903/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=5903" 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=WBGene00003795;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-081104-93" 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:5903" 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=RANBP2&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>
601181
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
RAN-BINDING PROTEIN 2; RANBP2
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
NUP358
</span>
</h4>
</div>
</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=RANBP2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RANBP2</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/2/549?start=-3&limit=10&highlight=549">2q13</a>
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:108719482-109842301&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'})">2:108,719,482-109,842,301</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/2/549?start=-3&limit=10&highlight=549">
2q13
</a>
</span>
</td>
<td>
<span class="mim-font">
{Encephalopathy, acute, infection-induced, 3, susceptibility to}
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608033"> 608033 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<strong>TEXT</strong>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>The RANBP2 is a component of the nuclear pore complex and plays a role in facilitation of protein import and export, sumoylation of protein cargoes, intracellular trafficking, and energy maintenance (<a href="#9" class="mim-tip-reference" title="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. &lt;strong&gt;Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.&lt;/strong&gt; Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19118815/&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;19118815&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[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.2008.12.009&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="19118815">Neilson et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118815" 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="cloning" class="mim-anchor"></a>
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<strong>Cloning and Expression</strong>
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<p>By 2-hybrid screen with RAN (<a href="/entry/601179">601179</a>) as bait, <a href="#16" class="mim-tip-reference" title="Yokoyama, N., Hayashi, N., Seki, T., Pante, N., Ohba, T., Nishii, K., Kuma, K., Hayashida, T., Miyata, T., Abei, U., Fukui, M., Nishimoto, T. &lt;strong&gt;A giant nucleopore protein that binds Ran/TC4.&lt;/strong&gt; Nature 376: 184-188, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7603572/&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;7603572&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/376184a0&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="7603572">Yokoyama et al. (1995)</a> cloned RANBP2, which encodes a very large protein of 3,224 amino acids that was immunolocalized to the nuclear pore complex. The protein has an N-terminal 700-residue leucine-rich domain (LRD), 4 motifs in common with RANBP1 (<a href="/entry/601180">601180</a>), 8 zinc finger motifs, and a C terminus related to cyclophilin (<a href="/entry/123840">123840</a>). The authors showed that an antibody directed against RANBP2 inhibited nuclear import. RAN is a small GTP-binding protein of the RAS superfamily (see <a href="/entry/190020">190020</a>) that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins (<a href="#16" class="mim-tip-reference" title="Yokoyama, N., Hayashi, N., Seki, T., Pante, N., Ohba, T., Nishii, K., Kuma, K., Hayashida, T., Miyata, T., Abei, U., Fukui, M., Nishimoto, T. &lt;strong&gt;A giant nucleopore protein that binds Ran/TC4.&lt;/strong&gt; Nature 376: 184-188, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7603572/&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;7603572&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/376184a0&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="7603572">Yokoyama et al., 1995</a>). <a href="#2" class="mim-tip-reference" title="Beddow, A. L., Richards, S. A., Orem, N. R., Macara, I. G. &lt;strong&gt;The Ran/TC4 GTPase-binding domain: identification by expression cloning and characterization of a conserved sequence motif.&lt;/strong&gt; Proc. Nat. Acad. Sci. 92: 3328-3332, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7724562/&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;7724562&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1073/pnas.92.8.3328&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="7724562">Beddow et al. (1995)</a> described a nearly identical partial cDNA which contains a motif of about 150 residues that stabilizes the GTP-bound state of RAN. A mutation in that domain markedly reduced RAN binding. The gene is also referred to as NUP358 (<a href="#15" class="mim-tip-reference" title="Wu, J., Matunis, M. J., Kraemer, D., Blobel, G., Coutavas, E. &lt;strong&gt;Nup358, a cytoplasmically exposed nucleoporin with peptide repeats, Ran-GTP binding sites, zinc fingers, a cyclophilin A homologous domain, and a leucine-rich region.&lt;/strong&gt; J. Biol. Chem. 270: 14209-14213, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7775481/&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;7775481&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.270.23.14209&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="7775481">Wu et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7775481+7724562+7603572" 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="geneFunction" class="mim-anchor"></a>
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Gene Function</strong>
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<p><a href="#10" class="mim-tip-reference" title="Pichler, A., Gast, A., Seeler, J. S., Dejean, A., Melchior, F. &lt;strong&gt;The nucleoporin RanBP2 has SUMO1 E3 ligase activity.&lt;/strong&gt; Cell 108: 109-120, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11792325/&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;11792325&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0092-8674(01)00633-x&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="11792325">Pichler et al. (2002)</a> showed that the nucleoporin RANBP2 has SUMO1 (<a href="/entry/601912">601912</a>) E3-like activity. RANBP2 directly interacts with the E2 enzyme UBC9 (<a href="/entry/601661">601661</a>) and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100 (<a href="/entry/604585">604585</a>). The E3-like activity is contained within a 33-kD domain of RANBP2 that lacks RING finger motifs and does not resemble PIAS (see <a href="/entry/603566">603566</a>) family proteins. These findings placed sumoylation at the cytoplasmic filaments of the nuclear pore complexes and suggested that, at least for some substrates, modification and nuclear import are linked events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11792325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Castagnet, P., Mavlyutov, T., Cai, Y., Zhong, F., Ferreira, P. &lt;strong&gt;RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.&lt;/strong&gt; Hum. Molec. Genet. 12: 1847-1863, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12874105/&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;12874105&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddg202&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="12874105">Castagnet et al. (2003)</a> provided evidence of RPGRIP1 (<a href="/entry/605446">605446</a>) association in vivo with RANBP2 at the nuclear rim of a restricted population of amacrine neurons and in the transformed mouse photoreceptor cell line 661W. Their data implicated a role of RANBP2 in the pathogenesis of neuroretinopathies and as a docking station to mediate the nucleocytoplasmic RPGRIP1 isoforms and their interaction with other partners in amacrine and 661W neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12874105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Aslanukov, A., Bhowmick, R., Guruju, M., Oswald, J., Raz, D., Bush, R. A., Sieving, P. A., Lu, X., Bock, C. B., Ferreira, P. A. &lt;strong&gt;RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism.&lt;/strong&gt; PLoS Genet. 2: e177, 2006. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17069463/&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;17069463&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17069463[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/10.1371/journal.pgen.0020177&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="17069463">Aslanukov et al. (2006)</a> demonstrated that RANBP2 associated in vitro and in vivo and colocalized with COX11 (<a href="/entry/603648">603648</a>) and HKI (<a href="/entry/142600">142600</a>) via the its leucine-rich domain. RANBP2 also exhibited strong chaperone activity toward intermediate and mature folding species of COX11, and RANPB2 suppressed COX11 inhibition of HKI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17069463" 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 bovine and murine constructs, <a href="#3" class="mim-tip-reference" title="Cai, Y., Singh, B. B., Aslanukov, A., Zhao, H., Ferreira, P. A. &lt;strong&gt;The docking of kinesins, KIF5B and KIF5C, to Ran-binding protein 2 (RanBP2) is mediated via a novel RanBP2 domain.&lt;/strong&gt; J. Biol. Chem. 276: 41594-41602, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11553612/&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;11553612&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M104514200&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="11553612">Cai et al. (2001)</a> showed that a Ranbp2 domain between Ran GTPase-binding domains 2 and 3 bound to 2 kinesin microtubule-based motor proteins, Kif5b (<a href="/entry/602809">602809</a>) and Kif5c (<a href="/entry/604593">604593</a>), in neurons. The kinesin light chain (see KLC1; <a href="/entry/600025">600025</a>) and Ran GTPase were part of this Ranbp2 microassembly complex. <a href="#3" class="mim-tip-reference" title="Cai, Y., Singh, B. B., Aslanukov, A., Zhao, H., Ferreira, P. A. &lt;strong&gt;The docking of kinesins, KIF5B and KIF5C, to Ran-binding protein 2 (RanBP2) is mediated via a novel RanBP2 domain.&lt;/strong&gt; J. Biol. Chem. 276: 41594-41602, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11553612/&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;11553612&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M104514200&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="11553612">Cai et al. (2001)</a> concluded that RANBP2 is an integrator of nuclear and cytoplasmic trafficking pathways in neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11553612" 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="#14" class="mim-tip-reference" title="Um, J. W., Min, D. S., Rhim, H., Kim, J., Paik, S. R., Chung, K. C. &lt;strong&gt;Parkin ubiquitinates and promotes the degradation of RanBP2.&lt;/strong&gt; J. Biol. Chem. 281: 3595-3603, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16332688/&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;16332688&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1074/jbc.M504994200&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="16332688">Um et al. (2006)</a> showed that parkin (PARK2; <a href="/entry/602544">602544</a>) bound and ubiquitinated RANBP2, causing its proteasome-dependent degradation. By causing the degradation of RANBP2, parkin also controlled the intracellular levels of sumoylated HDAC4 (<a href="/entry/605314">605314</a>), a RANBP2 target involved in myogenesis and inhibition of muscle differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16332688" 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 analyzing the virus capsid uncoating process during adenovirus infection in HeLa cells, <a href="#13" class="mim-tip-reference" title="Strunze, S., Engelke, M. F., Wang, I-H., Puntener, D., Boucke, K., Schleich, S., Way, M., Schoenenberger, P., Burckhardt, C. J., Greber, U. F. &lt;strong&gt;Kinesin-1-mediated capsid disassembly and disruption of the nuclear pore complex promote virus infection.&lt;/strong&gt; Cell Host Microbe 10: 210-223, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21925109/&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;21925109&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.chom.2011.08.010&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="21925109">Strunze et al. (2011)</a> found that the incoming virus particle moved toward the nucleus via microtubules and docked to the nuclear pore complex (NPC) by interacting with Nup214 (<a href="/entry/114350">114350</a>). Adenovirus subsequently recruited kinesin-1 using viral capsid protein IX, which interacted with kinesin-1 light chain KLC1/KLC2 (<a href="/entry/611729">611729</a>). Kinesin-1 then bound to NUP358, which was attached to the NUP214/NUP88 (<a href="/entry/602552">602552</a>) complex, through its heavy chain KIF5C (<a href="/entry/604593">604593</a>) and disrupted the viral capsid and dislocated NUP214, NUP358, and NUP62 (<a href="/entry/605815">605815</a>) from the central NPC to the periphery. Disruption of the NPC increased permeability of the nuclear envelope and facilitated entry of viral DNA into the nucleus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21925109" 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="#11" class="mim-tip-reference" title="Rasaiyaah, J., Tan, C. P., Fletcher, A. J., Price, A. J., Blondeau, C., Hilditch, L., Jacques, D. A., Selwood, D. L., James, L. C., Noursadeghi, M., Towers, G. J. &lt;strong&gt;HIV-1 evades innate immune recognition through specific cofactor recruitment.&lt;/strong&gt; Nature 503: 402-405, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24196705/&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;24196705&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24196705[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/10.1038/nature12769&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="24196705">Rasaiyaah et al. (2013)</a> showed that HIV-1 capsid mutants N74D and P90A, which are impaired for interaction with cofactors (CPSF6; <a href="/entry/604979">604979</a>) and cyclophilins (NUP358 and CYPA, <a href="/entry/123840">123840</a>), respectively, cannot replicate in primary human monocyte-derived macrophages because they trigger innate sensors leading to nuclear translocation of NFKB (see <a href="/entry/164011">164011</a>) and IRF3 (<a href="/entry/603734">603734</a>), the production of soluble type I IFN, and induction of an antiviral state. Depletion of CPSF6 with short hairpin RNA expression allowed wildtype virus to trigger innate sensors and IFN production. In each case, suppressed replication was rescued by IFN-receptor blockade, demonstrating a role for IFN in restriction. IFN production is dependent on viral reverse transcription but not integration, indicating that a viral reverse transcription product comprises the HIV-1 pathogen-associated molecular pattern. Finally, <a href="#11" class="mim-tip-reference" title="Rasaiyaah, J., Tan, C. P., Fletcher, A. J., Price, A. J., Blondeau, C., Hilditch, L., Jacques, D. A., Selwood, D. L., James, L. C., Noursadeghi, M., Towers, G. J. &lt;strong&gt;HIV-1 evades innate immune recognition through specific cofactor recruitment.&lt;/strong&gt; Nature 503: 402-405, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24196705/&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;24196705&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=24196705[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/10.1038/nature12769&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="24196705">Rasaiyaah et al. (2013)</a> demonstrated that they could pharmacologically induce wildtype HIV-1 infection to stimulate IFN secretion and an antiviral state using a nonimmunosuppressive cyclosporine analog. The authors concluded that HIV-1 has evolved to use CPSF6 and cyclophilins to cloak its replication, allowing evasion of innate immune sensors and induction of a cell-autonomous innate immune response in primary human macrophages. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24196705" 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><strong><em>Crystal Structure</em></strong></p><p>
<a href="#12" class="mim-tip-reference" title="Reverter, D., Lima, C. D. &lt;strong&gt;Insights into E3 ligase activity revealed by a SUMO-RanGAP1-Ubc9-Nup358 complex. (Letter)&lt;/strong&gt; Nature 435: 687-692, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15931224/&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;15931224&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15931224[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/10.1038/nature03588&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="15931224">Reverter and Lima (2005)</a> described the 3.0-angstrom crystal structure of a 4-protein complex of UBC9, a NUP358/RANBP2 E3 ligase domain (IR1-M), and SUMO1 conjugated to the carboxy-terminal domain of RANGAP1 (<a href="/entry/602362">602362</a>). Structural insights, combined with biochemical and kinetic data obtained with additional substrates, supported a model in which NUP358/RANBP2 acts as an E3 by binding both SUMO and UBC9 to position the SUMO-E2-thioester in an optimal orientation to enhance conjugation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15931224" 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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<p>By fluorescence in situ hybridization, <a href="#7" class="mim-tip-reference" title="Krebber, H., Bastians, H., Hoheisel, J., Lichter, P., Ponstingl, H., Joos, S. &lt;strong&gt;Localization of the gene encoding the Ran-binding protein RanBP2 to human chromosome 2q11-q13 by fluorescence in situ hybridization.&lt;/strong&gt; Genomics 43: 247-248, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9244446/&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;9244446&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1997.4777&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="9244446">Krebber et al. (1997)</a> mapped the RANBP2 gene to chromosome 2q11-q13. <a href="#6" class="mim-tip-reference" title="Fauser, S., Aslanukov, A., Roepman, R., Ferreira, P. A. &lt;strong&gt;Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene.&lt;/strong&gt; Mammalian Genome 12: 406-415, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11353387/&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;11353387&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s003350010291&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="11353387">Fauser et al. (2001)</a> mapped the mouse homolog to chromosome 10 by radiation hybrid mapping. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9244446+11353387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 10 unrelated families with acute necrotizing encephalopathy (ANE, IIAE3; <a href="/entry/608033">608033</a>), <a href="#9" class="mim-tip-reference" title="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. &lt;strong&gt;Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.&lt;/strong&gt; Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19118815/&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;19118815&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[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.2008.12.009&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="19118815">Neilson et al. (2009)</a> identified a heterozygous mutation in the RANBP2 gene (<a href="#0001">601181.0001</a>). Haplotype analysis did not support a founder effect. Two additional affected families were found to carry different heterozygous mutations in the RANBP2 gene (<a href="#0002">601181.0002</a> and <a href="#0003">601181.0003</a>). <a href="#9" class="mim-tip-reference" title="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. &lt;strong&gt;Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.&lt;/strong&gt; Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19118815/&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;19118815&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[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.2008.12.009&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="19118815">Neilson et al. (2009)</a> concluded that mutations in the RANBP2 gene predispose to ANE, but by themselves are insufficient to make the phenotype fully penetrant; additional genetic and environmental factors are required. Four more affected families did not carry RANBP2 mutations, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118815" 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="Aslanukov, A., Bhowmick, R., Guruju, M., Oswald, J., Raz, D., Bush, R. A., Sieving, P. A., Lu, X., Bock, C. B., Ferreira, P. A. &lt;strong&gt;RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism.&lt;/strong&gt; PLoS Genet. 2: e177, 2006. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17069463/&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;17069463&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17069463[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/10.1371/journal.pgen.0020177&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="17069463">Aslanukov et al. (2006)</a> generated a mouse model with a genetically disrupted Ranbp2 locus and found that Ranbp2 -/- was embryonically lethal. Ranbp2 +/- mice had a pronounced decrease in HKI and ATP levels selectively in the central nervous system, and exhibited deficits in growth rates and glucose catabolism without impairment of glucose uptake and gluconeogenesis. These phenotypes were accompanied by a decrease in the electrophysiologic responses of photosensory and postreceptoral neurons. <a href="#1" class="mim-tip-reference" title="Aslanukov, A., Bhowmick, R., Guruju, M., Oswald, J., Raz, D., Bush, R. A., Sieving, P. A., Lu, X., Bock, C. B., Ferreira, P. A. &lt;strong&gt;RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism.&lt;/strong&gt; PLoS Genet. 2: e177, 2006. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17069463/&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;17069463&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=17069463[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/10.1371/journal.pgen.0020177&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="17069463">Aslanukov et al. (2006)</a> concluded that RANBP2 and its partners are critical modulators of neuronal HKI, glucose catabolism, and energy homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17069463" 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="Dawlaty, M. M., Malureanu, L., Jeganathan, K. B., Kao, E., Sustmann, C., Tahk, S., Shuai, K., Grosschedl, R., van Deursen, J. M. &lt;strong&gt;Resolution of sister centromeres requires RanBP2-mediated SUMOylation of topoisomerase II-alpha.&lt;/strong&gt; Cell 133: 103-115, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18394993/&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;18394993&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18394993[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.cell.2008.01.045&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="18394993">Dawlaty et al. (2008)</a> created a series of mice with graded expression of Ranbp2 from normal to zero by crossing mice with wildtype, hypomorphic, and knockout alleles. Ranbp2 -/- mice died during embryogenesis, but all Ranbp2-hypomorphic mice were overtly indistinguishable from wildtype. Nucleocytoplasmic transport of polyadenylated mRNA was normal in all hypomorphic mouse embryonic fibroblasts (MEFs). However, karyotype analysis revealed an inverse correlation between Ranbp2 protein level and the percentage of aneuploidy in splenocytes and MEF, and aneuploidy was due to the formation of anaphase-bridges. Topoisomerase II-alpha (TOP2A; <a href="/entry/126430">126430</a>), which decatenates sister centromeres prior to anaphase onset to prevent bridges, failed to accumulate at inner centromeres when Ranbp2 levels were low. Ranbp2 sumoylated Top2a in mitosis, and this modification was required for proper localization of Top2a at inner centromeres. Mice with low amounts of Ranbp2 were highly sensitive to tumor formation. <a href="#5" class="mim-tip-reference" title="Dawlaty, M. M., Malureanu, L., Jeganathan, K. B., Kao, E., Sustmann, C., Tahk, S., Shuai, K., Grosschedl, R., van Deursen, J. M. &lt;strong&gt;Resolution of sister centromeres requires RanBP2-mediated SUMOylation of topoisomerase II-alpha.&lt;/strong&gt; Cell 133: 103-115, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18394993/&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;18394993&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18394993[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.cell.2008.01.045&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="18394993">Dawlaty et al. (2008)</a> concluded that RANBP2 is a chromosomal instability gene that regulates TOP2A by sumoylation and suppresses tumorigenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18394993" 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="allelicVariants" class="mim-anchor"></a>
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<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
</span>
<strong>3 Selected Examples</a>):</strong>
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</h4>
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<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
<div>
<a href="/allelicVariants/601181" class="btn btn-default" role="button"> Table View </a>
&nbsp;&nbsp;<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601181[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>
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<strong>.0001&nbsp;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3</strong>
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RANBP2, THR585MET
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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> rs121434502 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434502;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/rs121434502?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=rs121434502" 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=rs121434502" 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=RCV000008868 OR RCV001291580 OR RCV003231094" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008868, RCV001291580, RCV003231094" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008868...</a>
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<span class="mim-text-font">
<p>In affected members of a family with acute necrotizing encephalopathy (IIAE3; <a href="/entry/608033">608033</a>), <a href="#9" class="mim-tip-reference" title="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. &lt;strong&gt;Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.&lt;/strong&gt; Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19118815/&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;19118815&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[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.2008.12.009&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="19118815">Neilson et al. (2009)</a> identified a heterozygous c.1880C-T transition in the RANBP2 gene, resulting in a thr585-to-met (T585M) substitution in the leucine-rich domain (LRD). The same heterozygous mutation was found in 9 of 15 additional families segregating with disease. Haplotype analysis did not indicate a founder effect. The mutation was not found in 384 controls, 1,000 individuals from the CEPH genome diversity panel, or in 1,297 multiple sclerosis (<a href="/entry/126200">126200</a>) patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Lonnqvist, T., Isohanni, P., Valanne, L., Olli-Lahdesmaki, T., Suomalainen, A., Pihko, H. &lt;strong&gt;Dominant encephalopathy mimicking mitochondrial disease.&lt;/strong&gt; Neurology 76: 101-103, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21205700/&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;21205700&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/WNL.0b013e318203e908&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="21205700">Lonnqvist et al. (2011)</a> identified a heterozygous T585M mutation in 6 affected members of a 3-generation Finnish family with ANE1. Five patients had onset of episodes between age 7 months and 6 years; 1 had a single episode at age 12 years as a sequel of mumps. Two patients had recurrence in childhood. One patient had complete recovery, and 3 patients had recovery with only minor motor impairment, 1 of whom also developed seizures responsive to medication. A fifth patient, who had 2 episodes, was severely mentally retarded with intractable epilepsy at age 35, and a sixth patient had learning disabilities and severe visual impairment. All episodes were preceded by common viral infections. Brain MRI showed that the external capsule and mamillary bodies were affected in all, and the brainstem and thalami in 3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21205700" 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;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3</strong>
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<span class="mim-text-font">
<div style="float: left;">
RANBP2, THR653ILE
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434503 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434503;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=rs121434503" 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=rs121434503" 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=RCV000008869" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008869" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008869</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>In affected members of a family with acute necrotizing encephalopathy (<a href="/entry/608033">608033</a>), <a href="#9" class="mim-tip-reference" title="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. &lt;strong&gt;Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.&lt;/strong&gt; Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19118815/&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;19118815&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[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.2008.12.009&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="19118815">Neilson et al. (2009)</a> identified a heterozygous c.2085C-T transition in the RANBP2 gene, resulting in a thr653-to-ile (T653I) substitution in a highly conserved residue in the LRD. The mutation was not found in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118815" 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>
<h4>
<span class="mim-font">
<strong>.0003&nbsp;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
<div style="float: left;">
RANBP2, ILE656VAL
</div>
</span>
&nbsp;&nbsp;
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434504 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434504;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=rs121434504" 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=rs121434504" 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=RCV000008870" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000008870" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000008870</a>
</span>
</div>
<div>
<span class="mim-text-font">
<p>In affected members of a family with acute necrotizing encephalopathy (<a href="/entry/608033">608033</a>), <a href="#9" class="mim-tip-reference" title="Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others. &lt;strong&gt;Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.&lt;/strong&gt; Am. J. Hum. Genet. 84: 44-51, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19118815/&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;19118815&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[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.2008.12.009&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="19118815">Neilson et al. (2009)</a> identified a heterozygous c.2094A-G transition in the RANBP2 gene, resulting in an ile656-to-val (I656V) substitution in a highly conserved residue in the LRD. The mutation was not found in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118815" 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="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
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<a id="1" class="mim-anchor"></a>
<a id="Aslanukov2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Aslanukov, A., Bhowmick, R., Guruju, M., Oswald, J., Raz, D., Bush, R. A., Sieving, P. A., Lu, X., Bock, C. B., Ferreira, P. A.
<strong>RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism.</strong>
PLoS Genet. 2: e177, 2006. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17069463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17069463</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17069463[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=17069463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1371/journal.pgen.0020177" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Beddow1995" class="mim-anchor"></a>
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<p class="mim-text-font">
Beddow, A. L., Richards, S. A., Orem, N. R., Macara, I. G.
<strong>The Ran/TC4 GTPase-binding domain: identification by expression cloning and characterization of a conserved sequence motif.</strong>
Proc. Nat. Acad. Sci. 92: 3328-3332, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7724562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7724562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7724562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1073/pnas.92.8.3328" target="_blank">Full Text</a>]
</p>
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<a id="Cai2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cai, Y., Singh, B. B., Aslanukov, A., Zhao, H., Ferreira, P. A.
<strong>The docking of kinesins, KIF5B and KIF5C, to Ran-binding protein 2 (RanBP2) is mediated via a novel RanBP2 domain.</strong>
J. Biol. Chem. 276: 41594-41602, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11553612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11553612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11553612" 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.M104514200" target="_blank">Full Text</a>]
</p>
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<a id="Castagnet2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Castagnet, P., Mavlyutov, T., Cai, Y., Zhong, F., Ferreira, P.
<strong>RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.</strong>
Hum. Molec. Genet. 12: 1847-1863, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12874105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12874105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12874105" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddg202" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Dawlaty2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dawlaty, M. M., Malureanu, L., Jeganathan, K. B., Kao, E., Sustmann, C., Tahk, S., Shuai, K., Grosschedl, R., van Deursen, J. M.
<strong>Resolution of sister centromeres requires RanBP2-mediated SUMOylation of topoisomerase II-alpha.</strong>
Cell 133: 103-115, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18394993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18394993</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18394993[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=18394993" 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.cell.2008.01.045" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Fauser2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fauser, S., Aslanukov, A., Roepman, R., Ferreira, P. A.
<strong>Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene.</strong>
Mammalian Genome 12: 406-415, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11353387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11353387</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11353387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s003350010291" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Krebber1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Krebber, H., Bastians, H., Hoheisel, J., Lichter, P., Ponstingl, H., Joos, S.
<strong>Localization of the gene encoding the Ran-binding protein RanBP2 to human chromosome 2q11-q13 by fluorescence in situ hybridization.</strong>
Genomics 43: 247-248, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9244446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9244446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9244446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1997.4777" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Lonnqvist2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lonnqvist, T., Isohanni, P., Valanne, L., Olli-Lahdesmaki, T., Suomalainen, A., Pihko, H.
<strong>Dominant encephalopathy mimicking mitochondrial disease.</strong>
Neurology 76: 101-103, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21205700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21205700</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21205700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/WNL.0b013e318203e908" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Neilson2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others.
<strong>Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.</strong>
Am. J. Hum. Genet. 84: 44-51, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118815</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118815[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=19118815" 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.2008.12.009" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Pichler2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pichler, A., Gast, A., Seeler, J. S., Dejean, A., Melchior, F.
<strong>The nucleoporin RanBP2 has SUMO1 E3 ligase activity.</strong>
Cell 108: 109-120, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11792325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11792325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11792325" 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/s0092-8674(01)00633-x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Rasaiyaah2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rasaiyaah, J., Tan, C. P., Fletcher, A. J., Price, A. J., Blondeau, C., Hilditch, L., Jacques, D. A., Selwood, D. L., James, L. C., Noursadeghi, M., Towers, G. J.
<strong>HIV-1 evades innate immune recognition through specific cofactor recruitment.</strong>
Nature 503: 402-405, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24196705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24196705</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24196705[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=24196705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/nature12769" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Reverter2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reverter, D., Lima, C. D.
<strong>Insights into E3 ligase activity revealed by a SUMO-RanGAP1-Ubc9-Nup358 complex. (Letter)</strong>
Nature 435: 687-692, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15931224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15931224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15931224[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=15931224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/nature03588" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Strunze2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Strunze, S., Engelke, M. F., Wang, I-H., Puntener, D., Boucke, K., Schleich, S., Way, M., Schoenenberger, P., Burckhardt, C. J., Greber, U. F.
<strong>Kinesin-1-mediated capsid disassembly and disruption of the nuclear pore complex promote virus infection.</strong>
Cell Host Microbe 10: 210-223, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21925109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21925109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21925109" 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.chom.2011.08.010" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Um2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Um, J. W., Min, D. S., Rhim, H., Kim, J., Paik, S. R., Chung, K. C.
<strong>Parkin ubiquitinates and promotes the degradation of RanBP2.</strong>
J. Biol. Chem. 281: 3595-3603, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16332688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16332688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16332688" 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.M504994200" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Wu1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wu, J., Matunis, M. J., Kraemer, D., Blobel, G., Coutavas, E.
<strong>Nup358, a cytoplasmically exposed nucleoporin with peptide repeats, Ran-GTP binding sites, zinc fingers, a cyclophilin A homologous domain, and a leucine-rich region.</strong>
J. Biol. Chem. 270: 14209-14213, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7775481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7775481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7775481" 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.270.23.14209" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Yokoyama1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yokoyama, N., Hayashi, N., Seki, T., Pante, N., Ohba, T., Nishii, K., Kuma, K., Hayashida, T., Miyata, T., Abei, U., Fukui, M., Nishimoto, T.
<strong>A giant nucleopore protein that binds Ran/TC4.</strong>
Nature 376: 184-188, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7603572/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7603572</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7603572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/376184a0" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Bao Lige - updated : 05/31/2019
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Ada Hamosh - updated : 12/09/2013<br>Cassandra L. Kniffin - updated : 5/2/2011<br>Cassandra L. Kniffin - updated : 2/2/2009<br>Patricia A. Hartz - updated : 10/3/2008<br>Patricia A. Hartz - updated : 5/27/2008<br>Marla J. F. O'Neill - updated : 11/13/2007<br>Ada Hamosh - updated : 6/15/2005<br>George E. Tiller - updated : 5/6/2005<br>Stylianos E. Antonarakis - updated : 1/24/2002<br>Victor A. McKusick - updated : 6/22/2001<br>Carol A. Bocchini - updated : 2/28/1999<br>Victor A. McKusick - updated : 7/3/1997
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Alan F. Scott : 4/4/1996
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 08/06/2024
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
mgross : 05/31/2019<br>alopez : 12/09/2013<br>mgross : 10/5/2012<br>carol : 10/3/2011<br>wwang : 5/10/2011<br>ckniffin : 5/2/2011<br>wwang : 2/26/2009<br>ckniffin : 2/2/2009<br>mgross : 10/7/2008<br>terry : 10/3/2008<br>wwang : 5/30/2008<br>terry : 5/27/2008<br>wwang : 11/27/2007<br>terry : 11/13/2007<br>alopez : 6/16/2005<br>terry : 6/15/2005<br>tkritzer : 5/6/2005<br>mgross : 1/24/2002<br>carol : 6/22/2001<br>terry : 6/22/2001<br>terry : 3/1/1999<br>carol : 2/28/1999<br>alopez : 6/24/1998<br>alopez : 7/3/1997<br>mark : 7/3/1997<br>mark : 4/5/1996<br>terry : 4/4/1996<br>mark : 4/4/1996
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>*</strong> 601181
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
RAN-BINDING PROTEIN 2; RANBP2
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
NUP358
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong><em>HGNC Approved Gene Symbol: RANBP2</em></strong>
</span>
</p>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>
<em>
Cytogenetic location: 2q13
&nbsp;
Genomic coordinates <span class="small">(GRCh38)</span> : 2:108,719,482-109,842,301 </span>
</em>
</strong>
<span class="small">(from NCBI)</span>
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Gene-Phenotype Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed 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">
2q13
</span>
</td>
<td>
<span class="mim-font">
{Encephalopathy, acute, infection-induced, 3, susceptibility to}
</span>
</td>
<td>
<span class="mim-font">
608033
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The RANBP2 is a component of the nuclear pore complex and plays a role in facilitation of protein import and export, sumoylation of protein cargoes, intracellular trafficking, and energy maintenance (Neilson et al., 2009). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cloning and Expression</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By 2-hybrid screen with RAN (601179) as bait, Yokoyama et al. (1995) cloned RANBP2, which encodes a very large protein of 3,224 amino acids that was immunolocalized to the nuclear pore complex. The protein has an N-terminal 700-residue leucine-rich domain (LRD), 4 motifs in common with RANBP1 (601180), 8 zinc finger motifs, and a C terminus related to cyclophilin (123840). The authors showed that an antibody directed against RANBP2 inhibited nuclear import. RAN is a small GTP-binding protein of the RAS superfamily (see 190020) that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins (Yokoyama et al., 1995). Beddow et al. (1995) described a nearly identical partial cDNA which contains a motif of about 150 residues that stabilizes the GTP-bound state of RAN. A mutation in that domain markedly reduced RAN binding. The gene is also referred to as NUP358 (Wu et al., 1995). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Gene Function</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Pichler et al. (2002) showed that the nucleoporin RANBP2 has SUMO1 (601912) E3-like activity. RANBP2 directly interacts with the E2 enzyme UBC9 (601661) and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100 (604585). The E3-like activity is contained within a 33-kD domain of RANBP2 that lacks RING finger motifs and does not resemble PIAS (see 603566) family proteins. These findings placed sumoylation at the cytoplasmic filaments of the nuclear pore complexes and suggested that, at least for some substrates, modification and nuclear import are linked events. </p><p>Castagnet et al. (2003) provided evidence of RPGRIP1 (605446) association in vivo with RANBP2 at the nuclear rim of a restricted population of amacrine neurons and in the transformed mouse photoreceptor cell line 661W. Their data implicated a role of RANBP2 in the pathogenesis of neuroretinopathies and as a docking station to mediate the nucleocytoplasmic RPGRIP1 isoforms and their interaction with other partners in amacrine and 661W neurons. </p><p>Aslanukov et al. (2006) demonstrated that RANBP2 associated in vitro and in vivo and colocalized with COX11 (603648) and HKI (142600) via the its leucine-rich domain. RANBP2 also exhibited strong chaperone activity toward intermediate and mature folding species of COX11, and RANPB2 suppressed COX11 inhibition of HKI. </p><p>Using bovine and murine constructs, Cai et al. (2001) showed that a Ranbp2 domain between Ran GTPase-binding domains 2 and 3 bound to 2 kinesin microtubule-based motor proteins, Kif5b (602809) and Kif5c (604593), in neurons. The kinesin light chain (see KLC1; 600025) and Ran GTPase were part of this Ranbp2 microassembly complex. Cai et al. (2001) concluded that RANBP2 is an integrator of nuclear and cytoplasmic trafficking pathways in neurons. </p><p>Um et al. (2006) showed that parkin (PARK2; 602544) bound and ubiquitinated RANBP2, causing its proteasome-dependent degradation. By causing the degradation of RANBP2, parkin also controlled the intracellular levels of sumoylated HDAC4 (605314), a RANBP2 target involved in myogenesis and inhibition of muscle differentiation. </p><p>By analyzing the virus capsid uncoating process during adenovirus infection in HeLa cells, Strunze et al. (2011) found that the incoming virus particle moved toward the nucleus via microtubules and docked to the nuclear pore complex (NPC) by interacting with Nup214 (114350). Adenovirus subsequently recruited kinesin-1 using viral capsid protein IX, which interacted with kinesin-1 light chain KLC1/KLC2 (611729). Kinesin-1 then bound to NUP358, which was attached to the NUP214/NUP88 (602552) complex, through its heavy chain KIF5C (604593) and disrupted the viral capsid and dislocated NUP214, NUP358, and NUP62 (605815) from the central NPC to the periphery. Disruption of the NPC increased permeability of the nuclear envelope and facilitated entry of viral DNA into the nucleus. </p><p>Rasaiyaah et al. (2013) showed that HIV-1 capsid mutants N74D and P90A, which are impaired for interaction with cofactors (CPSF6; 604979) and cyclophilins (NUP358 and CYPA, 123840), respectively, cannot replicate in primary human monocyte-derived macrophages because they trigger innate sensors leading to nuclear translocation of NFKB (see 164011) and IRF3 (603734), the production of soluble type I IFN, and induction of an antiviral state. Depletion of CPSF6 with short hairpin RNA expression allowed wildtype virus to trigger innate sensors and IFN production. In each case, suppressed replication was rescued by IFN-receptor blockade, demonstrating a role for IFN in restriction. IFN production is dependent on viral reverse transcription but not integration, indicating that a viral reverse transcription product comprises the HIV-1 pathogen-associated molecular pattern. Finally, Rasaiyaah et al. (2013) demonstrated that they could pharmacologically induce wildtype HIV-1 infection to stimulate IFN secretion and an antiviral state using a nonimmunosuppressive cyclosporine analog. The authors concluded that HIV-1 has evolved to use CPSF6 and cyclophilins to cloak its replication, allowing evasion of innate immune sensors and induction of a cell-autonomous innate immune response in primary human macrophages. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Biochemical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Crystal Structure</em></strong></p><p>
Reverter and Lima (2005) described the 3.0-angstrom crystal structure of a 4-protein complex of UBC9, a NUP358/RANBP2 E3 ligase domain (IR1-M), and SUMO1 conjugated to the carboxy-terminal domain of RANGAP1 (602362). Structural insights, combined with biochemical and kinetic data obtained with additional substrates, supported a model in which NUP358/RANBP2 acts as an E3 by binding both SUMO and UBC9 to position the SUMO-E2-thioester in an optimal orientation to enhance conjugation. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By fluorescence in situ hybridization, Krebber et al. (1997) mapped the RANBP2 gene to chromosome 2q11-q13. Fauser et al. (2001) mapped the mouse homolog to chromosome 10 by radiation hybrid mapping. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In affected members of 10 unrelated families with acute necrotizing encephalopathy (ANE, IIAE3; 608033), Neilson et al. (2009) identified a heterozygous mutation in the RANBP2 gene (601181.0001). Haplotype analysis did not support a founder effect. Two additional affected families were found to carry different heterozygous mutations in the RANBP2 gene (601181.0002 and 601181.0003). Neilson et al. (2009) concluded that mutations in the RANBP2 gene predispose to ANE, but by themselves are insufficient to make the phenotype fully penetrant; additional genetic and environmental factors are required. Four more affected families did not carry RANBP2 mutations, indicating genetic heterogeneity. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Aslanukov et al. (2006) generated a mouse model with a genetically disrupted Ranbp2 locus and found that Ranbp2 -/- was embryonically lethal. Ranbp2 +/- mice had a pronounced decrease in HKI and ATP levels selectively in the central nervous system, and exhibited deficits in growth rates and glucose catabolism without impairment of glucose uptake and gluconeogenesis. These phenotypes were accompanied by a decrease in the electrophysiologic responses of photosensory and postreceptoral neurons. Aslanukov et al. (2006) concluded that RANBP2 and its partners are critical modulators of neuronal HKI, glucose catabolism, and energy homeostasis. </p><p>Dawlaty et al. (2008) created a series of mice with graded expression of Ranbp2 from normal to zero by crossing mice with wildtype, hypomorphic, and knockout alleles. Ranbp2 -/- mice died during embryogenesis, but all Ranbp2-hypomorphic mice were overtly indistinguishable from wildtype. Nucleocytoplasmic transport of polyadenylated mRNA was normal in all hypomorphic mouse embryonic fibroblasts (MEFs). However, karyotype analysis revealed an inverse correlation between Ranbp2 protein level and the percentage of aneuploidy in splenocytes and MEF, and aneuploidy was due to the formation of anaphase-bridges. Topoisomerase II-alpha (TOP2A; 126430), which decatenates sister centromeres prior to anaphase onset to prevent bridges, failed to accumulate at inner centromeres when Ranbp2 levels were low. Ranbp2 sumoylated Top2a in mitosis, and this modification was required for proper localization of Top2a at inner centromeres. Mice with low amounts of Ranbp2 were highly sensitive to tumor formation. Dawlaty et al. (2008) concluded that RANBP2 is a chromosomal instability gene that regulates TOP2A by sumoylation and suppresses tumorigenesis. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>ALLELIC VARIANTS</strong>
</span>
<strong>3 Selected Examples):</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0001 &nbsp; ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
RANBP2, THR585MET
<br />
SNP: rs121434502,
gnomAD: rs121434502,
ClinVar: RCV000008868, RCV001291580, RCV003231094
</span>
</div>
<div>
<span class="mim-text-font">
<p>In affected members of a family with acute necrotizing encephalopathy (IIAE3; 608033), Neilson et al. (2009) identified a heterozygous c.1880C-T transition in the RANBP2 gene, resulting in a thr585-to-met (T585M) substitution in the leucine-rich domain (LRD). The same heterozygous mutation was found in 9 of 15 additional families segregating with disease. Haplotype analysis did not indicate a founder effect. The mutation was not found in 384 controls, 1,000 individuals from the CEPH genome diversity panel, or in 1,297 multiple sclerosis (126200) patients. </p><p>Lonnqvist et al. (2011) identified a heterozygous T585M mutation in 6 affected members of a 3-generation Finnish family with ANE1. Five patients had onset of episodes between age 7 months and 6 years; 1 had a single episode at age 12 years as a sequel of mumps. Two patients had recurrence in childhood. One patient had complete recovery, and 3 patients had recovery with only minor motor impairment, 1 of whom also developed seizures responsive to medication. A fifth patient, who had 2 episodes, was severely mentally retarded with intractable epilepsy at age 35, and a sixth patient had learning disabilities and severe visual impairment. All episodes were preceded by common viral infections. Brain MRI showed that the external capsule and mamillary bodies were affected in all, and the brainstem and thalami in 3. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0002 &nbsp; ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
RANBP2, THR653ILE
<br />
SNP: rs121434503,
ClinVar: RCV000008869
</span>
</div>
<div>
<span class="mim-text-font">
<p>In affected members of a family with acute necrotizing encephalopathy (608033), Neilson et al. (2009) identified a heterozygous c.2085C-T transition in the RANBP2 gene, resulting in a thr653-to-ile (T653I) substitution in a highly conserved residue in the LRD. The mutation was not found in 200 controls. </p>
</span>
</div>
<div>
<br />
</div>
</div>
<div>
<div>
<h4>
<span class="mim-font">
<strong>.0003 &nbsp; ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3</strong>
</span>
</h4>
</div>
<div>
<span class="mim-text-font">
RANBP2, ILE656VAL
<br />
SNP: rs121434504,
ClinVar: RCV000008870
</span>
</div>
<div>
<span class="mim-text-font">
<p>In affected members of a family with acute necrotizing encephalopathy (608033), Neilson et al. (2009) identified a heterozygous c.2094A-G transition in the RANBP2 gene, resulting in an ile656-to-val (I656V) substitution in a highly conserved residue in the LRD. The mutation was not found in 200 controls. </p>
</span>
</div>
<div>
<br />
</div>
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Aslanukov, A., Bhowmick, R., Guruju, M., Oswald, J., Raz, D., Bush, R. A., Sieving, P. A., Lu, X., Bock, C. B., Ferreira, P. A.
<strong>RanBP2 modulates Cox11 and hexokinase I activities and haploinsufficiency of RanBP2 causes deficits in glucose metabolism.</strong>
PLoS Genet. 2: e177, 2006. Note: Electronic Article.
[PubMed: 17069463]
[Full Text: https://doi.org/10.1371/journal.pgen.0020177]
</p>
</li>
<li>
<p class="mim-text-font">
Beddow, A. L., Richards, S. A., Orem, N. R., Macara, I. G.
<strong>The Ran/TC4 GTPase-binding domain: identification by expression cloning and characterization of a conserved sequence motif.</strong>
Proc. Nat. Acad. Sci. 92: 3328-3332, 1995.
[PubMed: 7724562]
[Full Text: https://doi.org/10.1073/pnas.92.8.3328]
</p>
</li>
<li>
<p class="mim-text-font">
Cai, Y., Singh, B. B., Aslanukov, A., Zhao, H., Ferreira, P. A.
<strong>The docking of kinesins, KIF5B and KIF5C, to Ran-binding protein 2 (RanBP2) is mediated via a novel RanBP2 domain.</strong>
J. Biol. Chem. 276: 41594-41602, 2001.
[PubMed: 11553612]
[Full Text: https://doi.org/10.1074/jbc.M104514200]
</p>
</li>
<li>
<p class="mim-text-font">
Castagnet, P., Mavlyutov, T., Cai, Y., Zhong, F., Ferreira, P.
<strong>RPGRIP1s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons.</strong>
Hum. Molec. Genet. 12: 1847-1863, 2003.
[PubMed: 12874105]
[Full Text: https://doi.org/10.1093/hmg/ddg202]
</p>
</li>
<li>
<p class="mim-text-font">
Dawlaty, M. M., Malureanu, L., Jeganathan, K. B., Kao, E., Sustmann, C., Tahk, S., Shuai, K., Grosschedl, R., van Deursen, J. M.
<strong>Resolution of sister centromeres requires RanBP2-mediated SUMOylation of topoisomerase II-alpha.</strong>
Cell 133: 103-115, 2008.
[PubMed: 18394993]
[Full Text: https://doi.org/10.1016/j.cell.2008.01.045]
</p>
</li>
<li>
<p class="mim-text-font">
Fauser, S., Aslanukov, A., Roepman, R., Ferreira, P. A.
<strong>Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene.</strong>
Mammalian Genome 12: 406-415, 2001.
[PubMed: 11353387]
[Full Text: https://doi.org/10.1007/s003350010291]
</p>
</li>
<li>
<p class="mim-text-font">
Krebber, H., Bastians, H., Hoheisel, J., Lichter, P., Ponstingl, H., Joos, S.
<strong>Localization of the gene encoding the Ran-binding protein RanBP2 to human chromosome 2q11-q13 by fluorescence in situ hybridization.</strong>
Genomics 43: 247-248, 1997.
[PubMed: 9244446]
[Full Text: https://doi.org/10.1006/geno.1997.4777]
</p>
</li>
<li>
<p class="mim-text-font">
Lonnqvist, T., Isohanni, P., Valanne, L., Olli-Lahdesmaki, T., Suomalainen, A., Pihko, H.
<strong>Dominant encephalopathy mimicking mitochondrial disease.</strong>
Neurology 76: 101-103, 2011.
[PubMed: 21205700]
[Full Text: https://doi.org/10.1212/WNL.0b013e318203e908]
</p>
</li>
<li>
<p class="mim-text-font">
Neilson, D. E., Adams, M. D., Orr, C. M. D., Schelling, D. K., Eiben, R. M., Kerr, D. S., Anderson, J., Bassuk, A. G., Bye, A. M., Childs, A.-M., Clarke, A., Crow, Y. J., and 26 others.
<strong>Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2.</strong>
Am. J. Hum. Genet. 84: 44-51, 2009.
[PubMed: 19118815]
[Full Text: https://doi.org/10.1016/j.ajhg.2008.12.009]
</p>
</li>
<li>
<p class="mim-text-font">
Pichler, A., Gast, A., Seeler, J. S., Dejean, A., Melchior, F.
<strong>The nucleoporin RanBP2 has SUMO1 E3 ligase activity.</strong>
Cell 108: 109-120, 2002.
[PubMed: 11792325]
[Full Text: https://doi.org/10.1016/s0092-8674(01)00633-x]
</p>
</li>
<li>
<p class="mim-text-font">
Rasaiyaah, J., Tan, C. P., Fletcher, A. J., Price, A. J., Blondeau, C., Hilditch, L., Jacques, D. A., Selwood, D. L., James, L. C., Noursadeghi, M., Towers, G. J.
<strong>HIV-1 evades innate immune recognition through specific cofactor recruitment.</strong>
Nature 503: 402-405, 2013.
[PubMed: 24196705]
[Full Text: https://doi.org/10.1038/nature12769]
</p>
</li>
<li>
<p class="mim-text-font">
Reverter, D., Lima, C. D.
<strong>Insights into E3 ligase activity revealed by a SUMO-RanGAP1-Ubc9-Nup358 complex. (Letter)</strong>
Nature 435: 687-692, 2005.
[PubMed: 15931224]
[Full Text: https://doi.org/10.1038/nature03588]
</p>
</li>
<li>
<p class="mim-text-font">
Strunze, S., Engelke, M. F., Wang, I-H., Puntener, D., Boucke, K., Schleich, S., Way, M., Schoenenberger, P., Burckhardt, C. J., Greber, U. F.
<strong>Kinesin-1-mediated capsid disassembly and disruption of the nuclear pore complex promote virus infection.</strong>
Cell Host Microbe 10: 210-223, 2011.
[PubMed: 21925109]
[Full Text: https://doi.org/10.1016/j.chom.2011.08.010]
</p>
</li>
<li>
<p class="mim-text-font">
Um, J. W., Min, D. S., Rhim, H., Kim, J., Paik, S. R., Chung, K. C.
<strong>Parkin ubiquitinates and promotes the degradation of RanBP2.</strong>
J. Biol. Chem. 281: 3595-3603, 2006.
[PubMed: 16332688]
[Full Text: https://doi.org/10.1074/jbc.M504994200]
</p>
</li>
<li>
<p class="mim-text-font">
Wu, J., Matunis, M. J., Kraemer, D., Blobel, G., Coutavas, E.
<strong>Nup358, a cytoplasmically exposed nucleoporin with peptide repeats, Ran-GTP binding sites, zinc fingers, a cyclophilin A homologous domain, and a leucine-rich region.</strong>
J. Biol. Chem. 270: 14209-14213, 1995.
[PubMed: 7775481]
[Full Text: https://doi.org/10.1074/jbc.270.23.14209]
</p>
</li>
<li>
<p class="mim-text-font">
Yokoyama, N., Hayashi, N., Seki, T., Pante, N., Ohba, T., Nishii, K., Kuma, K., Hayashida, T., Miyata, T., Abei, U., Fukui, M., Nishimoto, T.
<strong>A giant nucleopore protein that binds Ran/TC4.</strong>
Nature 376: 184-188, 1995.
[PubMed: 7603572]
[Full Text: https://doi.org/10.1038/376184a0]
</p>
</li>
</ol>
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Bao Lige - updated : 05/31/2019<br>Ada Hamosh - updated : 12/09/2013<br>Cassandra L. Kniffin - updated : 5/2/2011<br>Cassandra L. Kniffin - updated : 2/2/2009<br>Patricia A. Hartz - updated : 10/3/2008<br>Patricia A. Hartz - updated : 5/27/2008<br>Marla J. F. O&#x27;Neill - updated : 11/13/2007<br>Ada Hamosh - updated : 6/15/2005<br>George E. Tiller - updated : 5/6/2005<br>Stylianos E. Antonarakis - updated : 1/24/2002<br>Victor A. McKusick - updated : 6/22/2001<br>Carol A. Bocchini - updated : 2/28/1999<br>Victor A. McKusick - updated : 7/3/1997
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