2210 lines
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2210 lines
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Entry
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- *605337 - COMPLEMENT FACTOR H-RELATED 4; CFHR4
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- OMIM
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<p>
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<span class="h4">*605337</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</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="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<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 class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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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 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=ENSG00000134365;t=ENST00000608469" 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=10877" 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=605337" 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="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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</span>
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</span>
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</div>
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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=ENSG00000134365;t=ENST00000608469" 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_001201550,NM_001201551,NM_006684,XM_017000111,XM_017000113,XM_047440639,XM_047440640,XM_047440659,XM_047440683" 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_001201550" 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=605337" 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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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=05627&isoform_id=05627_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/CFHR4" 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/1524058,6224792,50960664,60417192,117320518,119611671,119611672,158258941,298905391,320089548,320089550,384381538,575773384,1034554890,1034554894,2217263338,2217263340,2217263343,2217263346,2462495992,2462495994,2462495996,2462495998,2462496000,2462496002,2462496004,2462502389,2462502391,2462502393,2462502395,2462502397,2462502400" 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/Q92496" 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=10877" 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=ENSG00000134365;t=ENST00000608469" 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=CFHR4" 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=CFHR4" 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+10877" 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/CFHR4" 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:10877" 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/10877" 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=chr1&hgg_gene=ENST00000608469.6&hgg_start=196888052&hgg_end=196918633&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=605337[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-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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<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=605337[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/ENSG00000134365" 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=CFHR4" 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=CFHR4" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CFHR4&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/PA134960382" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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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</a>
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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:16979" 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="http://v1.marrvel.org/search/gene/CFHR4#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="https://www.ncbi.nlm.nih.gov/gene/10877/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=10877" 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 class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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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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</a>
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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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10877" 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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<div><a href="https://reactome.org/content/query?q=CFHR4&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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<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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<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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<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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605337
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</span>
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</span>
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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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COMPLEMENT FACTOR H-RELATED 4; CFHR4
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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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<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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<h4>
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<span class="mim-font">
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FACTOR H-RELATED GENE 4; FHR4<br />
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CFHL4
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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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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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FHR-4A, INCLUDED
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<div>
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<span class="h4 mim-font">
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FHR-4B, INCLUDED
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<div>
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<br />
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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=CFHR4" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CFHR4</a></em></strong>
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</span>
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</p>
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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/1/1531?start=-3&limit=10&highlight=1531">1q31.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:196888052-196918633&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'})">1:196,888,052-196,918,633</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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<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="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Human complement factor H (CFH; <a href="/entry/134370">134370</a>) and 5 factor H-related proteins, CFHR1 (<a href="/entry/134371">134371</a>), CFHR2 (<a href="/entry/600889">600889</a>), CFHR3 (<a href="/entry/605336">605336</a>), CFHR4, and CFHR5 (<a href="/entry/608593">608593</a>), are exclusively composed of highly-related short consensus repeats (SCRs), each of which contains 4 cysteine residues and additional conserved amino acids. By biochemical purification of an apoprotein from triglyceride-rich lipoproteins, followed by partial amino acid sequence analysis and screening of a liver cDNA library with a CFHR3 probe, <a href="#5" class="mim-tip-reference" title="Skerka, C., Hellwage, J., Weber, W., Tilkorn, A., Buck, F., Marti, T., Kampen, E., Beisiegel, U., Zipfel, P. F. <strong>The human factor H-related protein 4 (FHR4): a novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins.</strong> J. Biol. Chem. 272: 5627-5634, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038172</a>] [<a href="https://doi.org/10.1074/jbc.272.9.5627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9038172">Skerka et al. (1997)</a> isolated a cDNA encoding CFHR4. The deduced 331-amino acid protein contains a potential 19-amino acid signal peptide, 4 potential N-linked glycosylation sites, and 5 SCRs. The CFHR4 SCRs share sequence identities of 63 to 70% with those of CFH, except for SCR 5, which is only 39% identical to SCR 20 of CFH. The CFHR4 C-terminal SCRs are over 93% identical to those of CFHR3. Northern blot analysis of liver RNA revealed expression of 1.4-, 2.2-, and 2.5-kb transcripts, with the shorter transcript predicted to be CFHR4 specific. Western blot analysis showed that CFHR4 in serum is an 86-kD dimeric protein and a 63-kD monomeric protein after extensive reducing treatment, whereas the recombinant proteins are 84 kD and 42 kD, suggesting that the difference is due to carbohydrate attachment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9038172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Jozsi, M., Richter, H., Loschmann, I., Skerka, C., Buck, F., Beisiegel, U., Erdei, A., Zipfel, P. F. <strong>FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.</strong> Europ. J. Hum. Genet. 13: 321-329, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15562282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15562282</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15562282">Jozsi et al. (2005)</a> found that 2 distinct mRNA transcripts are derived from the FHR4 gene by alternative splicing. The short form, which they called FHR-4B, is a truncated variant and encodes a secreted protein of 5 complement control protein (CCP) domains, and was the form previously designated FHR4. The long transcript, FHR-4A, encodes a protein composed of 9 complement control protein (CCP) domains. FHR-4A has a tandem arrangement of 4 CCP domains forming a 'natural dimer' of the FHR-4B isoform. The FHR-4A protein was identified in human plasma as an 86-kD protein. The difference between the predicted and observed molecular masses was explained by glycosylation. <a href="#3" class="mim-tip-reference" title="Jozsi, M., Richter, H., Loschmann, I., Skerka, C., Buck, F., Beisiegel, U., Erdei, A., Zipfel, P. F. <strong>FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.</strong> Europ. J. Hum. Genet. 13: 321-329, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15562282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15562282</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15562282">Jozsi et al. (2005)</a> compared the deduced protein sequence of FHR-4A with peptides from an 86-kD apolipoprotein, described by <a href="#5" class="mim-tip-reference" title="Skerka, C., Hellwage, J., Weber, W., Tilkorn, A., Buck, F., Marti, T., Kampen, E., Beisiegel, U., Zipfel, P. F. <strong>The human factor H-related protein 4 (FHR4): a novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins.</strong> J. Biol. Chem. 272: 5627-5634, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038172</a>] [<a href="https://doi.org/10.1074/jbc.272.9.5627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9038172">Skerka et al. (1997)</a>, and suggested that the long form, FHR-4A, represents this apolipoprotein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15562282+9038172" 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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<br />
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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
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<p>By genomic analysis, <a href="#3" class="mim-tip-reference" title="Jozsi, M., Richter, H., Loschmann, I., Skerka, C., Buck, F., Beisiegel, U., Erdei, A., Zipfel, P. F. <strong>FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.</strong> Europ. J. Hum. Genet. 13: 321-329, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15562282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15562282</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15562282">Jozsi et al. (2005)</a> determined that the FHR4 gene is composed of 10 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15562282" 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="Hellwage, J., Jokiranta, T. S., Koistinen, V., Vaarala, O., Meri, S., Zipfel, P. F. <strong>Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin.</strong> FEBS Lett. 462: 345-352, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10622723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10622723</a>] [<a href="https://doi.org/10.1016/s0014-5793(99)01554-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10622723">Hellwage et al. (1999)</a> determined that CFHR4, unlike CFHR3, does not bind to heparin. However, Biacore (surface plasmon resonance) and opsonization analyses showed that both proteins bind to C3b and C3d but not to C3c. Both CFHR3 and CFHR4 enhance the cofactor activity of factor H in C3b inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10622723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By radiation hybrid analysis, <a href="#1" class="mim-tip-reference" title="Diaz-Guillen, M. A., Rodriguez de Cordoba, S., Heine-Suner, D. <strong>A radiation hybrid map of complement factor H and factor H-related genes.</strong> Immunogenetics 49: 549-552, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10380701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10380701</a>] [<a href="https://doi.org/10.1007/s002510050534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10380701">Diaz-Guillen et al. (1999)</a> and <a href="#4" class="mim-tip-reference" title="McRae, J. L., Murphy, B. E., Eyre, H. J., Sutherland, G. R., Crawford, J., Cowan, P. J. <strong>Location and structure of the human FHR-5 gene.</strong> Genetica 114: 157-161, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12041828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12041828</a>] [<a href="https://doi.org/10.1023/a:1015114512924" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12041828">McRae et al. (2002)</a> determined that the 5 factor H-related genes are all closely linked to the CFH gene on chromosome 1q31-q32.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10380701+12041828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Diaz-Guillen1999" class="mim-anchor"></a>
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<p class="mim-text-font">
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Diaz-Guillen, M. A., Rodriguez de Cordoba, S., Heine-Suner, D.
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<strong>A radiation hybrid map of complement factor H and factor H-related genes.</strong>
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Immunogenetics 49: 549-552, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10380701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10380701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10380701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s002510050534" target="_blank">Full Text</a>]
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<a id="Hellwage1999" class="mim-anchor"></a>
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Hellwage, J., Jokiranta, T. S., Koistinen, V., Vaarala, O., Meri, S., Zipfel, P. F.
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<strong>Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin.</strong>
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FEBS Lett. 462: 345-352, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10622723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10622723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10622723" 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/s0014-5793(99)01554-9" target="_blank">Full Text</a>]
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Jozsi, M., Richter, H., Loschmann, I., Skerka, C., Buck, F., Beisiegel, U., Erdei, A., Zipfel, P. F.
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<strong>FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.</strong>
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Europ. J. Hum. Genet. 13: 321-329, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15562282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15562282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15562282" 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/10.1038/sj.ejhg.5201324" target="_blank">Full Text</a>]
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<a id="McRae2002" class="mim-anchor"></a>
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<p class="mim-text-font">
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McRae, J. L., Murphy, B. E., Eyre, H. J., Sutherland, G. R., Crawford, J., Cowan, P. J.
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<strong>Location and structure of the human FHR-5 gene.</strong>
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Genetica 114: 157-161, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12041828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12041828</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12041828" 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/10.1023/a:1015114512924" target="_blank">Full Text</a>]
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<a id="Skerka1997" class="mim-anchor"></a>
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Skerka, C., Hellwage, J., Weber, W., Tilkorn, A., Buck, F., Marti, T., Kampen, E., Beisiegel, U., Zipfel, P. F.
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<strong>The human factor H-related protein 4 (FHR4): a novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins.</strong>
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J. Biol. Chem. 272: 5627-5634, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9038172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9038172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9038172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.272.9.5627" target="_blank">Full Text</a>]
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Victor A. McKusick - updated : 4/4/2005
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Paul J. Converse - updated : 2/13/2001
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Creation Date:
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Victor A. McKusick : 10/13/2000
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alopez : 09/15/2006
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wwang : 8/3/2005<br>wwang : 4/15/2005<br>wwang : 4/7/2005<br>terry : 4/4/2005<br>cwells : 11/5/2003<br>carol : 8/13/2003<br>mgross : 4/2/2001<br>carol : 2/13/2001<br>carol : 10/16/2000<br>carol : 10/13/2000
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<strong>*</strong> 605337
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<h3>
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COMPLEMENT FACTOR H-RELATED 4; CFHR4
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FACTOR H-RELATED GENE 4; FHR4<br />
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CFHL4
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Other entities represented in this entry:
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FHR-4A, INCLUDED
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FHR-4B, INCLUDED
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<strong><em>HGNC Approved Gene Symbol: CFHR4</em></strong>
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Cytogenetic location: 1q31.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:196,888,052-196,918,633 </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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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Human complement factor H (CFH; 134370) and 5 factor H-related proteins, CFHR1 (134371), CFHR2 (600889), CFHR3 (605336), CFHR4, and CFHR5 (608593), are exclusively composed of highly-related short consensus repeats (SCRs), each of which contains 4 cysteine residues and additional conserved amino acids. By biochemical purification of an apoprotein from triglyceride-rich lipoproteins, followed by partial amino acid sequence analysis and screening of a liver cDNA library with a CFHR3 probe, Skerka et al. (1997) isolated a cDNA encoding CFHR4. The deduced 331-amino acid protein contains a potential 19-amino acid signal peptide, 4 potential N-linked glycosylation sites, and 5 SCRs. The CFHR4 SCRs share sequence identities of 63 to 70% with those of CFH, except for SCR 5, which is only 39% identical to SCR 20 of CFH. The CFHR4 C-terminal SCRs are over 93% identical to those of CFHR3. Northern blot analysis of liver RNA revealed expression of 1.4-, 2.2-, and 2.5-kb transcripts, with the shorter transcript predicted to be CFHR4 specific. Western blot analysis showed that CFHR4 in serum is an 86-kD dimeric protein and a 63-kD monomeric protein after extensive reducing treatment, whereas the recombinant proteins are 84 kD and 42 kD, suggesting that the difference is due to carbohydrate attachment. </p><p>Jozsi et al. (2005) found that 2 distinct mRNA transcripts are derived from the FHR4 gene by alternative splicing. The short form, which they called FHR-4B, is a truncated variant and encodes a secreted protein of 5 complement control protein (CCP) domains, and was the form previously designated FHR4. The long transcript, FHR-4A, encodes a protein composed of 9 complement control protein (CCP) domains. FHR-4A has a tandem arrangement of 4 CCP domains forming a 'natural dimer' of the FHR-4B isoform. The FHR-4A protein was identified in human plasma as an 86-kD protein. The difference between the predicted and observed molecular masses was explained by glycosylation. Jozsi et al. (2005) compared the deduced protein sequence of FHR-4A with peptides from an 86-kD apolipoprotein, described by Skerka et al. (1997), and suggested that the long form, FHR-4A, represents this apolipoprotein. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>By genomic analysis, Jozsi et al. (2005) determined that the FHR4 gene is composed of 10 exons. </p>
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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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</h4>
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</div>
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<span class="mim-text-font">
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<p>Hellwage et al. (1999) determined that CFHR4, unlike CFHR3, does not bind to heparin. However, Biacore (surface plasmon resonance) and opsonization analyses showed that both proteins bind to C3b and C3d but not to C3c. Both CFHR3 and CFHR4 enhance the cofactor activity of factor H in C3b inactivation. </p>
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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>By radiation hybrid analysis, Diaz-Guillen et al. (1999) and McRae et al. (2002) determined that the 5 factor H-related genes are all closely linked to the CFH gene on chromosome 1q31-q32.1. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Diaz-Guillen, M. A., Rodriguez de Cordoba, S., Heine-Suner, D.
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<strong>A radiation hybrid map of complement factor H and factor H-related genes.</strong>
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Immunogenetics 49: 549-552, 1999.
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[PubMed: 10380701]
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[Full Text: https://doi.org/10.1007/s002510050534]
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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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Hellwage, J., Jokiranta, T. S., Koistinen, V., Vaarala, O., Meri, S., Zipfel, P. F.
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<strong>Functional properties of complement factor H-related proteins FHR-3 and FHR-4: binding to the C3d region of C3b and differential regulation by heparin.</strong>
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FEBS Lett. 462: 345-352, 1999.
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[PubMed: 10622723]
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[Full Text: https://doi.org/10.1016/s0014-5793(99)01554-9]
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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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Jozsi, M., Richter, H., Loschmann, I., Skerka, C., Buck, F., Beisiegel, U., Erdei, A., Zipfel, P. F.
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<strong>FHR-4A: a new factor H-related protein is encoded by the human FHR-4 gene.</strong>
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Europ. J. Hum. Genet. 13: 321-329, 2005.
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[PubMed: 15562282]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201324]
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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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McRae, J. L., Murphy, B. E., Eyre, H. J., Sutherland, G. R., Crawford, J., Cowan, P. J.
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<strong>Location and structure of the human FHR-5 gene.</strong>
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Genetica 114: 157-161, 2002.
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[PubMed: 12041828]
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[Full Text: https://doi.org/10.1023/a:1015114512924]
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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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Skerka, C., Hellwage, J., Weber, W., Tilkorn, A., Buck, F., Marti, T., Kampen, E., Beisiegel, U., Zipfel, P. F.
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<strong>The human factor H-related protein 4 (FHR4): a novel short consensus repeat-containing protein is associated with human triglyceride-rich lipoproteins.</strong>
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J. Biol. Chem. 272: 5627-5634, 1997.
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[PubMed: 9038172]
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[Full Text: https://doi.org/10.1074/jbc.272.9.5627]
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</p>
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</li>
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</ol>
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<span class="text-nowrap mim-text-font">
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Contributors:
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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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Victor A. McKusick - updated : 4/4/2005<br>Paul J. Converse - updated : 2/13/2001
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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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Victor A. McKusick : 10/13/2000
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alopez : 09/15/2006<br>wwang : 8/3/2005<br>wwang : 4/15/2005<br>wwang : 4/7/2005<br>terry : 4/4/2005<br>cwells : 11/5/2003<br>carol : 8/13/2003<br>mgross : 4/2/2001<br>carol : 2/13/2001<br>carol : 10/16/2000<br>carol : 10/13/2000
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