2678 lines
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Entry
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- *613301 - FEZ FAMILY ZINC FINGER PROTEIN 1; FEZF1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*613301</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<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/613301">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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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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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=ENSG00000128610;t=ENST00000442488" 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=389549" 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=613301" 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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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000128610;t=ENST00000442488" 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_001024613,NM_001160264,XM_005250337,XM_011516202" 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_001024613" 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=613301" 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://hprd.org/summary?hprd_id=18614&isoform_id=18614_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/FEZF1" 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/51095099,118341529,118341577,119603974,152032459,194374593,219518245,223459692,237681194,237681196,530385886,767947782,2462614327,2462614329" 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/A0PJY2" 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=389549" 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=ENSG00000128610;t=ENST00000442488" 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=FEZF1" 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=FEZF1" 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+389549" 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/FEZF1" 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:389549" 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/389549" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr7&hgg_gene=ENST00000442488.7&hgg_start=122301303&hgg_end=122310723&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613301[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 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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</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=613301[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/ENSG00000128610" 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=FEZF1" 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=FEZF1" 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=FEZF1" 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=FEZF1&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/PA162388419" 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:22788" 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://flybase.org/reports/FBgn0031375.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>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1920441" 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/FEZF1#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:1920441" 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/389549/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=389549" 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=WBGene00012639;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-060929-970" 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=FEZF1&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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613301
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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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FEZ FAMILY ZINC FINGER PROTEIN 1; FEZF1
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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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FOREBRAIN EMBRYONIC ZINC FINGER; FEZ<br />
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ZINC FINGER PROTEIN 312B; ZNF312B
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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=FEZF1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FEZF1</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/7/622?start=-3&limit=10&highlight=622">7q31.32</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:122301303-122310723&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">7:122,301,303-122,310,723</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/7/622?start=-3&limit=10&highlight=622">
|
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7q31.32
|
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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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Hypogonadotropic hypogonadism 22, with or without anosmia
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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/616030"> 616030 </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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|
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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/613301" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613301" 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">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</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>FEZF1 is a zinc-finger gene encoding a transcriptional repressor that is highly and selectively present during embryogenesis in the olfactory epithelium, amygdala, and hypothalamus (summary by <a href="#3" class="mim-tip-reference" title="Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>Mutations in FEZF1 cause Kallmann syndrome.</strong> Am. J. Hum. Genet. 95: 326-331, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25192046[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25192046">Kotan et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25192046" 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="Song, I.-S., Oh, N. S., Kim, H.-T., Ha, G.-H., Jeong, S.-Y., Kim, J.-M., Kim, D.-I., Yoo, H.-S., Kim, C.-H., Kim, N.-S. <strong>Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene.</strong> Cancer Res. 69: 3131-3139, 2009. Note: Erratum: Cancer Res. 69: 4092 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19318583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19318583</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-08-2240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19318583">Song et al. (2009)</a> stated that the 475-amino acid human FEZF1 protein, which they called ZNF312B, contains 6 C2H2-type zinc finger domains in its C-terminal half and a proline-rich motif near its C terminus. It shares 55% amino acid identity with ZNF312 (FEZF2; <a href="/entry/607414">607414</a>). Using immunohistochemical analysis, <a href="#4" class="mim-tip-reference" title="Song, I.-S., Oh, N. S., Kim, H.-T., Ha, G.-H., Jeong, S.-Y., Kim, J.-M., Kim, D.-I., Yoo, H.-S., Kim, C.-H., Kim, N.-S. <strong>Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene.</strong> Cancer Res. 69: 3131-3139, 2009. Note: Erratum: Cancer Res. 69: 4092 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19318583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19318583</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-08-2240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19318583">Song et al. (2009)</a> found that ZNF312B showed nuclear expression in a transfected human gastric cancer cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19318583" 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="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 3/12/2010."None>Hartz (2010)</a> mapped the FEZF1 gene to chromosome 7q31.32 based on an alignment of the FEZF1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AY726588" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AY726588</a>) with the genomic sequence (GRCh37).</p>
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<p><a href="#4" class="mim-tip-reference" title="Song, I.-S., Oh, N. S., Kim, H.-T., Ha, G.-H., Jeong, S.-Y., Kim, J.-M., Kim, D.-I., Yoo, H.-S., Kim, C.-H., Kim, N.-S. <strong>Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene.</strong> Cancer Res. 69: 3131-3139, 2009. Note: Erratum: Cancer Res. 69: 4092 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19318583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19318583</a>] [<a href="https://doi.org/10.1158/0008-5472.CAN-08-2240" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19318583">Song et al. (2009)</a> found that ZNF312B was overexpressed in human gastric cancer tissues and cell lines. Overexpression of ZNF312B induced accelerated proliferation in cultured cells and increased tumor mass in nude mice. ZNF312B translocated to the nucleus via its C-terminal proline-rich domain, and nuclear ZNF312B induced KRAS (<a href="/entry/190070">190070</a>) overexpression, resulting in activation of ERK (see <a href="/entry/601795">601795</a>) signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19318583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated consanguineous Kurdish families with hypogonadotropic hypogonadism with anosmia (HH22; <a href="/entry/616030">616030</a>), <a href="#3" class="mim-tip-reference" title="Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>Mutations in FEZF1 cause Kallmann syndrome.</strong> Am. J. Hum. Genet. 95: 326-331, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25192046[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25192046">Kotan et al. (2014)</a> identified homozygosity for a missense mutation (H278Y; <a href="#0001">613301.0001</a>) and a 1-bp deletion (c.651delT; <a href="#0002">613301.0002</a>), respectively, in the FEZF1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25192046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Hirata, T., Nakazawa, M., Muraoka, O., Nakayama, R., Suda, Y., Hibi, M. <strong>Zinc-finger genes Fez and Fez-like function in the establishment of diencephalon subdivisions.</strong> Development 133: 3993-4004, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16971467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16971467</a>] [<a href="https://doi.org/10.1242/dev.02585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16971467">Hirata et al. (2006)</a> stated that Fezf1 and Fezf2, which they called Fez and Fezl, respectively, are transcriptional repressors that are expressed in overlapping domains in the forebrain during mouse and zebrafish development. Fezl is required for development of subcerebral projection neurons in layer V of the neocortex, and Fezl-deficient mice show abnormal formation of subplate neurons and thalamocortical axons and loss of the fornix/fimbria system. Using mice deficient in both Fez and Fezl, <a href="#2" class="mim-tip-reference" title="Hirata, T., Nakazawa, M., Muraoka, O., Nakayama, R., Suda, Y., Hibi, M. <strong>Zinc-finger genes Fez and Fez-like function in the establishment of diencephalon subdivisions.</strong> Development 133: 3993-4004, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16971467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16971467</a>] [<a href="https://doi.org/10.1242/dev.02585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16971467">Hirata et al. (2006)</a> showed that these transcription factors redundantly controlled rostrocaudal patterning of the diencephalon by repressing the caudal diencephalon fate in the prospective prethalamic region. Fez and Fezl were also required for formation of the zona limitans intrathalamica at the boundary between the prethalamus and thalamus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16971467" 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 a sister and brother from a consanguineous Kurdish family with hypogonadotropic hypogonadism with anosmia (HH22; <a href="/entry/616030">616030</a>), <a href="#3" class="mim-tip-reference" title="Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>Mutations in FEZF1 cause Kallmann syndrome.</strong> Am. J. Hum. Genet. 95: 326-331, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25192046[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25192046">Kotan et al. (2014)</a> identified homozygosity for a c.832C-T transition in the FEZF1 gene, resulting in a his278-to-tyr (H278Y) substitution at a highly conserved residue within the C(2)H(2) motif, which is required for the stability of the central zinc in zinc finger proteins. The patients' unaffected parents and 3 unaffected sibs were each heterozygous for the mutation, which was not found in 100 ethnically matched controls, 36 in-house whole exomes, or the dbSNP (build 136), 1000 Genomes Project, or NHLBI Exome Sequencing Project databases. By immunoblot analysis of transfected HEK293T cells, <a href="#3" class="mim-tip-reference" title="Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>Mutations in FEZF1 cause Kallmann syndrome.</strong> Am. J. Hum. Genet. 95: 326-331, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25192046[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25192046">Kotan et al. (2014)</a> observed that wildtype FEZF1 reduced accumulation of the HES5 (<a href="/entry/607348">607348</a>)-DsRed reporter, whereas the H278Y mutant accumulated intermediate levels of DsRed, indicating a partial loss of function. <a href="#3" class="mim-tip-reference" title="Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>Mutations in FEZF1 cause Kallmann syndrome.</strong> Am. J. Hum. Genet. 95: 326-331, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25192046[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25192046">Kotan et al. (2014)</a> noted that both affected individuals were also homozygous for a nonsense mutation in the CCDC141 gene (<a href="/entry/616031">616031</a>), for which all unaffected family members were heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25192046" 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="0002" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0002 HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA</strong>
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</h4>
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FEZF1, 1-BP DEL, 651T
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777740 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777740;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=rs587777740" 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=rs587777740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000144241" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000144241" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000144241</a>
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<span class="mim-text-font">
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<p>In 2 brothers from a consanguineous Kurdish family with hypogonadotropic hypogonadism-22 with anosmia (HH22; <a href="/entry/616030">616030</a>), <a href="#3" class="mim-tip-reference" title="Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>Mutations in FEZF1 cause Kallmann syndrome.</strong> Am. J. Hum. Genet. 95: 326-331, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25192046[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25192046">Kotan et al. (2014)</a> identified homozygosity for a 1-bp deletion (c.651delT) in the FEZF1 gene, causing a frameshift predicted to result in a premature termination codon (Ala217fsTer13). The patients' unaffected parents and 3 unaffected sibs were each heterozygous for the mutation, which was not found in 100 ethnically matched controls, 36 in-house whole exomes, or the dbSNP (build 136), 1000 Genomes Project, or NHLBI Exome Sequencing Project databases. (In the article by <a href="#3" class="mim-tip-reference" title="Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K. <strong>Mutations in FEZF1 cause Kallmann syndrome.</strong> Am. J. Hum. Genet. 95: 326-331, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25192046[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25192046">Kotan et al. (2014)</a>, the nucleotide deletion is given as c.651delT and as c.652del. <a href="#5" class="mim-tip-reference" title="Topaloglu, A. K. <strong>Personal Communication.</strong> Adana, Turkey 9/23/2014."None>Topaloglu (2014)</a> indicated that c.651delT is correct.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25192046" 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>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
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<a id="Hartz2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/12/2010.
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<a id="2" class="mim-anchor"></a>
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<a id="Hirata2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hirata, T., Nakazawa, M., Muraoka, O., Nakayama, R., Suda, Y., Hibi, M.
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<strong>Zinc-finger genes Fez and Fez-like function in the establishment of diencephalon subdivisions.</strong>
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Development 133: 3993-4004, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16971467/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16971467</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16971467" 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/10.1242/dev.02585" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Kotan2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K.
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<strong>Mutations in FEZF1 cause Kallmann syndrome.</strong>
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Am. J. Hum. Genet. 95: 326-331, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25192046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25192046</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25192046[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=25192046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2014.08.006" target="_blank">Full Text</a>]
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Song2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Song, I.-S., Oh, N. S., Kim, H.-T., Ha, G.-H., Jeong, S.-Y., Kim, J.-M., Kim, D.-I., Yoo, H.-S., Kim, C.-H., Kim, N.-S.
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<strong>Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene.</strong>
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Cancer Res. 69: 3131-3139, 2009. Note: Erratum: Cancer Res. 69: 4092 only, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19318583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19318583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19318583" 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/10.1158/0008-5472.CAN-08-2240" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Topaloglu2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Topaloglu, A. K.
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<strong>Personal Communication.</strong>
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Adana, Turkey 9/23/2014.
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 01/16/2018
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 9/24/2014
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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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Patricia A. Hartz : 3/12/2010
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 09/27/2024
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<span class="mim-text-font">
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carol : 01/16/2018<br>alopez : 10/24/2014<br>carol : 9/25/2014<br>mcolton : 9/24/2014<br>terry : 11/23/2010<br>mgross : 3/12/2010
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<span class="mim-font">
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<strong>*</strong> 613301
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<h3>
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<span class="mim-font">
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FEZ FAMILY ZINC FINGER PROTEIN 1; FEZF1
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</span>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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FOREBRAIN EMBRYONIC ZINC FINGER; FEZ<br />
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ZINC FINGER PROTEIN 312B; ZNF312B
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</span>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: FEZF1</em></strong>
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<strong>
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Cytogenetic location: 7q31.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 7:122,301,303-122,310,723 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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<td rowspan="1">
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<span class="mim-font">
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7q31.32
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<td>
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<span class="mim-font">
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Hypogonadotropic hypogonadism 22, with or without anosmia
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</td>
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<td>
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<span class="mim-font">
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616030
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</td>
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<td>
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<span class="mim-font">
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3
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<br />
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>FEZF1 is a zinc-finger gene encoding a transcriptional repressor that is highly and selectively present during embryogenesis in the olfactory epithelium, amygdala, and hypothalamus (summary by Kotan et al., 2014). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Song et al. (2009) stated that the 475-amino acid human FEZF1 protein, which they called ZNF312B, contains 6 C2H2-type zinc finger domains in its C-terminal half and a proline-rich motif near its C terminus. It shares 55% amino acid identity with ZNF312 (FEZF2; 607414). Using immunohistochemical analysis, Song et al. (2009) found that ZNF312B showed nuclear expression in a transfected human gastric cancer cell line. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hartz (2010) mapped the FEZF1 gene to chromosome 7q31.32 based on an alignment of the FEZF1 sequence (GenBank AY726588) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Song et al. (2009) found that ZNF312B was overexpressed in human gastric cancer tissues and cell lines. Overexpression of ZNF312B induced accelerated proliferation in cultured cells and increased tumor mass in nude mice. ZNF312B translocated to the nucleus via its C-terminal proline-rich domain, and nuclear ZNF312B induced KRAS (190070) overexpression, resulting in activation of ERK (see 601795) signaling. </p>
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</span>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 2 unrelated consanguineous Kurdish families with hypogonadotropic hypogonadism with anosmia (HH22; 616030), Kotan et al. (2014) identified homozygosity for a missense mutation (H278Y; 613301.0001) and a 1-bp deletion (c.651delT; 613301.0002), respectively, in the FEZF1 gene. </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>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hirata et al. (2006) stated that Fezf1 and Fezf2, which they called Fez and Fezl, respectively, are transcriptional repressors that are expressed in overlapping domains in the forebrain during mouse and zebrafish development. Fezl is required for development of subcerebral projection neurons in layer V of the neocortex, and Fezl-deficient mice show abnormal formation of subplate neurons and thalamocortical axons and loss of the fornix/fimbria system. Using mice deficient in both Fez and Fezl, Hirata et al. (2006) showed that these transcription factors redundantly controlled rostrocaudal patterning of the diencephalon by repressing the caudal diencephalon fate in the prospective prethalamic region. Fez and Fezl were also required for formation of the zona limitans intrathalamica at the boundary between the prethalamus and thalamus. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA</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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FEZF1, HIS278TYR
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<br />
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SNP: rs587777739,
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ClinVar: RCV000144240
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a sister and brother from a consanguineous Kurdish family with hypogonadotropic hypogonadism with anosmia (HH22; 616030), Kotan et al. (2014) identified homozygosity for a c.832C-T transition in the FEZF1 gene, resulting in a his278-to-tyr (H278Y) substitution at a highly conserved residue within the C(2)H(2) motif, which is required for the stability of the central zinc in zinc finger proteins. The patients' unaffected parents and 3 unaffected sibs were each heterozygous for the mutation, which was not found in 100 ethnically matched controls, 36 in-house whole exomes, or the dbSNP (build 136), 1000 Genomes Project, or NHLBI Exome Sequencing Project databases. By immunoblot analysis of transfected HEK293T cells, Kotan et al. (2014) observed that wildtype FEZF1 reduced accumulation of the HES5 (607348)-DsRed reporter, whereas the H278Y mutant accumulated intermediate levels of DsRed, indicating a partial loss of function. Kotan et al. (2014) noted that both affected individuals were also homozygous for a nonsense mutation in the CCDC141 gene (616031), for which all unaffected family members were heterozygous. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA</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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FEZF1, 1-BP DEL, 651T
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<br />
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SNP: rs587777740,
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ClinVar: RCV000144241
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 brothers from a consanguineous Kurdish family with hypogonadotropic hypogonadism-22 with anosmia (HH22; 616030), Kotan et al. (2014) identified homozygosity for a 1-bp deletion (c.651delT) in the FEZF1 gene, causing a frameshift predicted to result in a premature termination codon (Ala217fsTer13). The patients' unaffected parents and 3 unaffected sibs were each heterozygous for the mutation, which was not found in 100 ethnically matched controls, 36 in-house whole exomes, or the dbSNP (build 136), 1000 Genomes Project, or NHLBI Exome Sequencing Project databases. (In the article by Kotan et al. (2014), the nucleotide deletion is given as c.651delT and as c.652del. Topaloglu (2014) indicated that c.651delT is correct.) </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">
|
|
<strong>REFERENCES</strong>
|
|
</span>
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</h4>
|
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<div>
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<p />
|
|
</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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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 3/12/2010.
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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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Hirata, T., Nakazawa, M., Muraoka, O., Nakayama, R., Suda, Y., Hibi, M.
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<strong>Zinc-finger genes Fez and Fez-like function in the establishment of diencephalon subdivisions.</strong>
|
|
Development 133: 3993-4004, 2006.
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[PubMed: 16971467]
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[Full Text: https://doi.org/10.1242/dev.02585]
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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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Kotan, L. D., Hutchins, B. I., Ozkan, Y., Demirel, F., Stoner, H., Cheng, P. J., Esen, I., Gurbuz, F., Bicakci, Y. K., Mengen, E., Yuksel, B., Wray, S., Topaloglu, A. K.
|
|
<strong>Mutations in FEZF1 cause Kallmann syndrome.</strong>
|
|
Am. J. Hum. Genet. 95: 326-331, 2014.
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[PubMed: 25192046]
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[Full Text: https://doi.org/10.1016/j.ajhg.2014.08.006]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Song, I.-S., Oh, N. S., Kim, H.-T., Ha, G.-H., Jeong, S.-Y., Kim, J.-M., Kim, D.-I., Yoo, H.-S., Kim, C.-H., Kim, N.-S.
|
|
<strong>Human ZNF312b promotes the progression of gastric cancer by transcriptional activation of the K-ras gene.</strong>
|
|
Cancer Res. 69: 3131-3139, 2009. Note: Erratum: Cancer Res. 69: 4092 only, 2009.
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|
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|
|
[PubMed: 19318583]
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|
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[Full Text: https://doi.org/10.1158/0008-5472.CAN-08-2240]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Topaloglu, A. K.
|
|
<strong>Personal Communication.</strong>
|
|
Adana, Turkey 9/23/2014.
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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>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-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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Marla J. F. O'Neill - updated : 01/16/2018<br>Marla J. F. O'Neill - updated : 9/24/2014
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</span>
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</div>
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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 class="row">
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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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Patricia A. Hartz : 3/12/2010
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<div>
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alopez : 09/27/2024<br>carol : 01/16/2018<br>alopez : 10/24/2014<br>carol : 9/25/2014<br>mcolton : 9/24/2014<br>terry : 11/23/2010<br>mgross : 3/12/2010
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