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Entry
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- *616650 - KATANIN-INTERACTING PROTEIN; KATNIP
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- OMIM
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<p>
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<span class="h4">*616650</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/616650">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000047578;t=ENST00000261588" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=23247" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=616650" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000047578;t=ENST00000261588" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_015202,XM_005255201,XM_005255202,XM_005255203,XM_005255206,XM_005255208,XM_006721025,XM_011545773,XM_011545774,XM_011545775,XM_011545776,XM_011545777,XM_017023085,XM_017023087,XM_024450216,XM_047433842,XM_047433843,XM_047433844,XM_047433845,XM_047433846" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_015202" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=616650" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.proteinatlas.org/search/KATNIP" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/21757265,119576147,152012814,194379796,221045336,269849754,444738853,530407804,530407806,530407808,530407814,530407818,578828499,767988361,767988363,767988365,767988368,767988374,929654403,1034594098,1034594103,1370468177,1844083948,2217305238,2217305242,2217305244,2217305247,2217305250,2462548131,2462548133,2462548135,2462548137,2462548139,2462548141,2462548143,2462548145,2462548147,2462548149,2462548151,2462548153,2462548155,2462548157,2462548159,2462548161,2462548163,2462548165,2462548167" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/O60303" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=23247" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000047578;t=ENST00000261588" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=KATNIP" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=KATNIP" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+23247" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/KATNIP" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:23247" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/23247" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr16&hgg_gene=ENST00000261588.10&hgg_start=27550144&hgg_end=27780344&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:29068" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616650[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=616650[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000047578" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=KATNIP" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=KATNIP" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=KATNIP" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=KATNIP&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA162392880" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:29068" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:2442760" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/KATNIP#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:2442760" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/23247/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=23247" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00019395;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-091204-173" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=KATNIP&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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616650
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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KATANIN-INTERACTING PROTEIN; KATNIP
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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KIAA0556
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KATNIP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KATNIP</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/16/297?start=-3&limit=10&highlight=297">16p12.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:27550144-27780344&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'})">16:27,550,144-27,780,344</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/16/297?start=-3&limit=10&highlight=297">
|
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16p12.1
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Joubert syndrome 26
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616784"> 616784 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/616650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/616650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The KATNIP gene encodes a microtubule-associated ciliary base protein that appears to regulate microtubule stability (summary by <a href="#4" class="mim-tip-reference" title="Sanders, A. A. W. M., de Vrieze, E., Alazami, A. M., Alzahrani, F., Malarkey, E. B., Sorusch, N., Tebbe, L., Kuhns, S., van Dam, T. J. P., Alhashem, A., Tabarki, B., Lu, Q., and 20 others. <strong>KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.</strong> Genome Biol. 16: 293, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26714646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26714646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26714646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13059-015-0858-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26714646">Sanders et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26714646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, <a href="#2" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> isolated a partial KIAA0556 clone. The 1,081-amino acid sequence shares weak similarity with human collagen alpha-2(VIII) (COL8A2; <a href="/entry/120252">120252</a>). RT-PCR detected variable KIAA0556 expression in all 14 human tissues examined, with highest expression in lung and lowest expression in skeletal muscle and spleen. SDS-PAGE revealed that KIAA0556 had an apparent molecular mass of more than 100 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In human retinal pigmentary epithelial cells, <a href="#4" class="mim-tip-reference" title="Sanders, A. A. W. M., de Vrieze, E., Alazami, A. M., Alzahrani, F., Malarkey, E. B., Sorusch, N., Tebbe, L., Kuhns, S., van Dam, T. J. P., Alhashem, A., Tabarki, B., Lu, Q., and 20 others. <strong>KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.</strong> Genome Biol. 16: 293, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26714646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26714646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26714646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13059-015-0858-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26714646">Sanders et al. (2015)</a> found expression of the KIAA0556 gene at the ciliary base, the axoneme, and the ciliary tip. In high-expressing cells, the protein also localized to the cytoplasm, where it appeared to decorate filamentous cytoskeletal structures. In C. elegans, there was expression of the Kiaa0556 ortholog in most ciliated cells, where it localized to the ciliary base and axoneme. These findings indicated that it is a highly conserved protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26714646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#2" class="mim-tip-reference" title="Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. <strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong> DNA Res. 5: 31-39, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>] [<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9628581">Nagase et al. (1998)</a> mapped the KIAA0556 gene to chromosome 16. <a href="#1" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 11/18/2015."None>Gross (2015)</a> mapped the KIAA0556 gene to chromosome 16p12.1 based on an alignment of the KIAA0556 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AB011128" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AB011128</a>) with the genomic sequence (GRCh38). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By overexpressing KIAA0556 in retinal epithelial cells, <a href="#4" class="mim-tip-reference" title="Sanders, A. A. W. M., de Vrieze, E., Alazami, A. M., Alzahrani, F., Malarkey, E. B., Sorusch, N., Tebbe, L., Kuhns, S., van Dam, T. J. P., Alhashem, A., Tabarki, B., Lu, Q., and 20 others. <strong>KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.</strong> Genome Biol. 16: 293, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26714646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26714646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26714646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13059-015-0858-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26714646">Sanders et al. (2015)</a> found that the protein colocalized with acetylated alpha-tubulin signals and bound directly to microtubules, reflecting increased stabilization of cytoplasmic microtubules. Tandem affinity purification studies showed that KIAA0556 interacts with various katanin subunits (see, e.g., KATNA1, <a href="/entry/606696">606696</a>), including KATNBL1 (<a href="/entry/616235">616235</a>). In C. elegans, KIAA0056 regulated ciliary A-tubule number and genetically interacted with an ARL13B (<a href="/entry/608922">608922</a>) ortholog to control cilium integrity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26714646" 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 3 sibs, born of consanguineous Saudi Arabian parents, with Joubert syndrome-26 (JBTS26; <a href="/entry/616784">616784</a>), <a href="#4" class="mim-tip-reference" title="Sanders, A. A. W. M., de Vrieze, E., Alazami, A. M., Alzahrani, F., Malarkey, E. B., Sorusch, N., Tebbe, L., Kuhns, S., van Dam, T. J. P., Alhashem, A., Tabarki, B., Lu, Q., and 20 others. <strong>KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.</strong> Genome Biol. 16: 293, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26714646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26714646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26714646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13059-015-0858-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26714646">Sanders et al. (2015)</a> identified a homozygous truncating mutation in the KIAA0556 gene (Q892X; <a href="#0001">616650.0001</a>). The mutation was found by exome sequencing and segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26714646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 brothers, born of first-cousin Indian parents (family 1015), with JBTS26, <a href="#3" class="mim-tip-reference" title="Roosing, S., Rosti, R. O., Rosti, B., de Vrieze, E., Silhavy, J. L., van Wijk, E., Wakeling, E., Gleeson, J. G. <strong>Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.</strong> Hum. Genet. 135: 919-921, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27245168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27245168</a>] [<a href="https://doi.org/10.1007/s00439-016-1689-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27245168">Roosing et al. (2016)</a> identified homozygosity for a frameshift mutation in the KIAA0556 gene (<a href="#0002">616650.0002</a>). The mutation segregated with the disorder in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27245168" 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="#4" class="mim-tip-reference" title="Sanders, A. A. W. M., de Vrieze, E., Alazami, A. M., Alzahrani, F., Malarkey, E. B., Sorusch, N., Tebbe, L., Kuhns, S., van Dam, T. J. P., Alhashem, A., Tabarki, B., Lu, Q., and 20 others. <strong>KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.</strong> Genome Biol. 16: 293, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26714646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26714646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26714646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13059-015-0858-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26714646">Sanders et al. (2015)</a> found that homozygous Kiaa0556-null mice showed a variable hydrocephalus phenotype with enlargement of the ventricles resulting from a block of cerebrospinal fluid flow in the cerebral aqueduct. However, detailed analysis showed no gross defects in ventricular ependymal cilium structure or motility. Disruption of the Kiaa0556 ortholog in C. elegans resulted in grossly normal ciliary structure, function, and transport, but ultrastructural analysis showed significant microtubule defects. Studies in C. elegans indicated that KIAA0556 interacts with an ARL13B (<a href="/entry/608922">608922</a>) ortholog to control cilium integrity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26714646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864309712 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864309712;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=rs864309712" 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=rs864309712" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 3 children, born of consanguineous parents of Saudi Arabian origin, with Joubert syndrome-26 (JBTS26; <a href="/entry/616784">616784</a>), <a href="#4" class="mim-tip-reference" title="Sanders, A. A. W. M., de Vrieze, E., Alazami, A. M., Alzahrani, F., Malarkey, E. B., Sorusch, N., Tebbe, L., Kuhns, S., van Dam, T. J. P., Alhashem, A., Tabarki, B., Lu, Q., and 20 others. <strong>KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.</strong> Genome Biol. 16: 293, 2015. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26714646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26714646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26714646[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1186/s13059-015-0858-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26714646">Sanders et al. (2015)</a> identified a homozygous c.2674C-T transition (c.2674C-T, NM_015202.2) in the KIAA0556 gene, resulting in a gln892-to-ter (Q892X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, and was not found in 615 control exomes. Patient cells showed near absence of the mutant transcript, consistent with nonsense-mediated mRNA decay and a complete loss of function. Patient-derived fibroblasts showed a significant reduction in the number of ciliated cells compared to controls, and the cilia that were present were abnormally long. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26714646" 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 JOUBERT SYNDROME 26</strong>
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KATNIP, 1-BP DEL, NT4420
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555497891 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555497891;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=rs1555497891" 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=rs1555497891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000579356" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000579356" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000579356</a>
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<p>By whole-exome sequencing in 2 brothers, born of first-cousin Indian parents (family 1015), with Joubert syndrome-26 (JBTS26; <a href="/entry/616784">616784</a>), <a href="#3" class="mim-tip-reference" title="Roosing, S., Rosti, R. O., Rosti, B., de Vrieze, E., Silhavy, J. L., van Wijk, E., Wakeling, E., Gleeson, J. G. <strong>Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.</strong> Hum. Genet. 135: 919-921, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27245168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27245168</a>] [<a href="https://doi.org/10.1007/s00439-016-1689-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27245168">Roosing et al. (2016)</a> identified homozygosity for a single basepair deletion, c.4420del (chr16.17,786,375del, GRCh37), in the KIAA056 gene, predicting a frameshift and a premature stop codon (Met1474CysfsTer11) and nonsense mediated mRNA decay. The mutation segregated with the disorder in the family. The variant was not reported in the Exome Variant Server, ExAC, or 1000 Genomes Project databases. Knockdown of the single kiaa0556 ortholog in zebrafish resulted in morphants with curly tails, small head size, and perithoracic and abdominal edema. This phenotype could be rescued by wildtype human KIAA0556 mRNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27245168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Gross2015" class="mim-anchor"></a>
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/18/2015.
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 31-39, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9628581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9628581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9628581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/dnares/5.1.31" target="_blank">Full Text</a>]
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Roosing, S., Rosti, R. O., Rosti, B., de Vrieze, E., Silhavy, J. L., van Wijk, E., Wakeling, E., Gleeson, J. G.
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<strong>Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.</strong>
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Hum. Genet. 135: 919-921, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27245168/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27245168</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27245168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-016-1689-z" target="_blank">Full Text</a>]
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<a id="Sanders2015" class="mim-anchor"></a>
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Sanders, A. A. W. M., de Vrieze, E., Alazami, A. M., Alzahrani, F., Malarkey, E. B., Sorusch, N., Tebbe, L., Kuhns, S., van Dam, T. J. P., Alhashem, A., Tabarki, B., Lu, Q., and 20 others.
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<strong>KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.</strong>
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Genome Biol. 16: 293, 2015. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26714646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26714646</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26714646[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=26714646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1186/s13059-015-0858-z" target="_blank">Full Text</a>]
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Carol A. Bocchini - updated : 02/08/2018
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Cassandra L. Kniffin - updated : 2/2/2016
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Matthew B. Gross : 11/18/2015
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carol : 12/03/2020
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carol : 12/02/2020<br>carol : 02/08/2018<br>alopez : 11/01/2016<br>carol : 02/03/2016<br>ckniffin : 2/2/2016<br>carol : 1/29/2016<br>mgross : 11/18/2015
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<strong>*</strong> 616650
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KIAA0556
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Cytogenetic location: 16p12.1
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Phenotype
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Inheritance
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Joubert syndrome 26
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616784
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Autosomal recessive
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3
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<p>The KATNIP gene encodes a microtubule-associated ciliary base protein that appears to regulate microtubule stability (summary by Sanders et al., 2015). </p>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p>By sequencing clones obtained from a size-fractionated brain cDNA library, Nagase et al. (1998) isolated a partial KIAA0556 clone. The 1,081-amino acid sequence shares weak similarity with human collagen alpha-2(VIII) (COL8A2; 120252). RT-PCR detected variable KIAA0556 expression in all 14 human tissues examined, with highest expression in lung and lowest expression in skeletal muscle and spleen. SDS-PAGE revealed that KIAA0556 had an apparent molecular mass of more than 100 kD. </p><p>In human retinal pigmentary epithelial cells, Sanders et al. (2015) found expression of the KIAA0556 gene at the ciliary base, the axoneme, and the ciliary tip. In high-expressing cells, the protein also localized to the cytoplasm, where it appeared to decorate filamentous cytoskeletal structures. In C. elegans, there was expression of the Kiaa0556 ortholog in most ciliated cells, where it localized to the ciliary base and axoneme. These findings indicated that it is a highly conserved protein. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>By radiation hybrid analysis, Nagase et al. (1998) mapped the KIAA0556 gene to chromosome 16. Gross (2015) mapped the KIAA0556 gene to chromosome 16p12.1 based on an alignment of the KIAA0556 sequence (GenBank AB011128) with the genomic sequence (GRCh38). </p>
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<strong>Gene Function</strong>
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<p>By overexpressing KIAA0556 in retinal epithelial cells, Sanders et al. (2015) found that the protein colocalized with acetylated alpha-tubulin signals and bound directly to microtubules, reflecting increased stabilization of cytoplasmic microtubules. Tandem affinity purification studies showed that KIAA0556 interacts with various katanin subunits (see, e.g., KATNA1, 606696), including KATNBL1 (616235). In C. elegans, KIAA0056 regulated ciliary A-tubule number and genetically interacted with an ARL13B (608922) ortholog to control cilium integrity. </p>
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<strong>Molecular Genetics</strong>
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<p>In 3 sibs, born of consanguineous Saudi Arabian parents, with Joubert syndrome-26 (JBTS26; 616784), Sanders et al. (2015) identified a homozygous truncating mutation in the KIAA0556 gene (Q892X; 616650.0001). The mutation was found by exome sequencing and segregated with the disorder in the family. </p><p>In 2 brothers, born of first-cousin Indian parents (family 1015), with JBTS26, Roosing et al. (2016) identified homozygosity for a frameshift mutation in the KIAA0556 gene (616650.0002). The mutation segregated with the disorder in the family. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</h4>
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<p>Sanders et al. (2015) found that homozygous Kiaa0556-null mice showed a variable hydrocephalus phenotype with enlargement of the ventricles resulting from a block of cerebrospinal fluid flow in the cerebral aqueduct. However, detailed analysis showed no gross defects in ventricular ependymal cilium structure or motility. Disruption of the Kiaa0556 ortholog in C. elegans resulted in grossly normal ciliary structure, function, and transport, but ultrastructural analysis showed significant microtubule defects. Studies in C. elegans indicated that KIAA0556 interacts with an ARL13B (608922) ortholog to control cilium integrity. </p>
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</span>
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<br />
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</div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 JOUBERT SYNDROME 26</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KATNIP, GLN892TER
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<br />
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SNP: rs864309712,
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ClinVar: RCV000203288, RCV000207324
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</span>
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</div>
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<span class="mim-text-font">
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<p>In 3 children, born of consanguineous parents of Saudi Arabian origin, with Joubert syndrome-26 (JBTS26; 616784), Sanders et al. (2015) identified a homozygous c.2674C-T transition (c.2674C-T, NM_015202.2) in the KIAA0556 gene, resulting in a gln892-to-ter (Q892X) substitution. The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family, and was not found in 615 control exomes. Patient cells showed near absence of the mutant transcript, consistent with nonsense-mediated mRNA decay and a complete loss of function. Patient-derived fibroblasts showed a significant reduction in the number of ciliated cells compared to controls, and the cilia that were present were abnormally long. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 JOUBERT SYNDROME 26</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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KATNIP, 1-BP DEL, NT4420
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<br />
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SNP: rs1555497891,
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ClinVar: RCV000579356
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>By whole-exome sequencing in 2 brothers, born of first-cousin Indian parents (family 1015), with Joubert syndrome-26 (JBTS26; 616784), Roosing et al. (2016) identified homozygosity for a single basepair deletion, c.4420del (chr16.17,786,375del, GRCh37), in the KIAA056 gene, predicting a frameshift and a premature stop codon (Met1474CysfsTer11) and nonsense mediated mRNA decay. The mutation segregated with the disorder in the family. The variant was not reported in the Exome Variant Server, ExAC, or 1000 Genomes Project databases. Knockdown of the single kiaa0556 ortholog in zebrafish resulted in morphants with curly tails, small head size, and perithoracic and abdominal edema. This phenotype could be rescued by wildtype human KIAA0556 mRNA. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/18/2015.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Nagase, T., Ishikawa, K., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.
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<strong>Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.</strong>
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DNA Res. 5: 31-39, 1998.
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[PubMed: 9628581]
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[Full Text: https://doi.org/10.1093/dnares/5.1.31]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Roosing, S., Rosti, R. O., Rosti, B., de Vrieze, E., Silhavy, J. L., van Wijk, E., Wakeling, E., Gleeson, J. G.
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|
<strong>Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.</strong>
|
|
Hum. Genet. 135: 919-921, 2016.
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[PubMed: 27245168]
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[Full Text: https://doi.org/10.1007/s00439-016-1689-z]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Sanders, A. A. W. M., de Vrieze, E., Alazami, A. M., Alzahrani, F., Malarkey, E. B., Sorusch, N., Tebbe, L., Kuhns, S., van Dam, T. J. P., Alhashem, A., Tabarki, B., Lu, Q., and 20 others.
|
|
<strong>KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.</strong>
|
|
Genome Biol. 16: 293, 2015. Note: Electronic Article.
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[PubMed: 26714646]
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[Full Text: https://doi.org/10.1186/s13059-015-0858-z]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 02/08/2018<br>Cassandra L. Kniffin - updated : 2/2/2016
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</span>
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</div>
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</div>
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<div>
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<br />
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross : 11/18/2015
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</span>
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</div>
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carol : 12/03/2020<br>carol : 12/02/2020<br>carol : 02/08/2018<br>alopez : 11/01/2016<br>carol : 02/03/2016<br>ckniffin : 2/2/2016<br>carol : 1/29/2016<br>mgross : 11/18/2015
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