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<div class="rprt"><h1 class="g_title"><span class="gn"><em>ENG</em></span> endoglin</h1><span class="geneid">Gene ID: 2022, updated on
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4-Mar-2025</span><br /><span class="geneid">Gene type: protein coding</span><br /><span class="known-as"><em>Also known as: </em>END; HHT1; ORW1</span><ul class="inline-list" style="padding-left:0;"><li><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=2022[geneid]" data-ga-label="see_all_available_tests">See all available tests in GTR for this gene</a></li><li><a href="/gene/2022/" ref="log_uid=2022&ncbi_uid=2022" data-ga-label="go_to_complete_gene_record">Go to complete Gene record for ENG</a></li><li><a href="/variation/view/?assm=GCF_000001405.25&q=ENG[gene]" ref="ncbi_uid=2022" data-ga-label="go_to_variation_viewer">Go to Variation Viewer for ENG variants</a></li></ul><h2>Summary</h2><p>This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]</p><div id="associated-conditions"><h2>Associated conditions</h2><p><a href="/gtr/all/tests/?term=2022[geneid]" data-ga-label="see_all_available_tests">See all available tests in GTR for this gene</a></p><div class="associated-conditions-table"><table class="jig-ncbigrid gtr-associated-cond"><thead><tr><th class="description">Description</th><th>Tests</th></tr></thead><tbody><tr><td>A genome-wide association study of the metabolic syndrome in Indian Asian men.<div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">GeneReviews: <span>Not available</span></span></div></td><td></td></tr><tr><td><a href="/gtr/conditions/C4551861" ref="ncbi_uid=2022&link_uid=C4551861" data-ga-label="condition">Telangiectasia, hereditary hemorrhagic, type 1</a><div class="gtr-associated-cond-extra"><span class="gtr-associated-cond-extra-i">MedGen: <a href="/medgen/C4551861" ref="ncbi_uid=2022&link_uid=C4551861" data-ga-label="medgen">C4551861</a></span><span class="gtr-associated-cond-extra-i">OMIM: <a href="https://www.ncbi.nlm.nih.gov/omim/187300" ref="ncbi_uid=2022" data-ga-label="omim"> 187300</a></span><span class="gtr-associated-cond-extra-i">GeneReviews: <a href="/books/NBK1351" ref="ncbi_uid=2022" data-ga-label="gene_reviews">Hereditary Hemorrhagic Telangiectasia</a></span></div></td><td><a href="/gtr/all/labs/?term=C4551861[DISCUI]" ref="ncbi_uid=2022" data-ga-label="labs">See labs</a></td></tr></tbody></table></div></div><div id="copy-number-of-resp"><h2>Copy number response</h2><div><table class="jig-ncbigrid gtr-associated-cond" data-jigconfig="isPageable: true, pageSize: 10"><thead><tr><th class="description">Description</th></tr></thead><tbody><tr><td>Copy number response<div class="gtr-associated-cond-extra"><div class="gtr-associated-cond-extra-c"><span style="color:#000;">Haploinsufficency</span><div><p>Sufficient evidence for dosage pathogenicity (Last evaluated 2024-01-11)</p><span class="gtr-associated-cond-extra-i"><a href="https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=ENG">ClinGen Genome Curation Page</a></span><span class="gtr-associated-cond-extra-i"><a href="/pubmed/10545596,10749981,15879500,23399955,35487791,9245986,9366572">PubMed</a></span></div></div><div class="gtr-associated-cond-extra-c"><span style="color:#000;">Triplosensitivity</span><div><p>No evidence available (Last evaluated 2024-01-11)</p><span class="gtr-associated-cond-extra-i"><a href="https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=ENG">ClinGen Genome Curation Page</a></span></div></div></div></td></tr></tbody></table></div></div><div id="genomic-context"><h2>Genomic context</h2><div class="map_location_wr"><div class="ch_location-wr"><dl class="chr_location"><dt>Location:</dt><dd>9q34.11</dd></dl><dl class="chr_location"><dt>Sequence: </dt><dd>Chromosome: 9; NC_000009.12 (127815016..127854658, complement)</dd></dl><dl class="chr_location"><dt>Total number of exons:</dt><dd>16</dd></dl></div><div class="note-link"></div></div><div class="viewer"><div class="choose"><label for="accession" class="label">Genomic Sequence </label><select name="accessionList" sid="1" id="accessionList"><option value="NC_000009.12_127815015_127854657" data-assembly="GRCh38.p14">NC_000009 Chromosome 9 Reference GRCh38.p14 Primary Assembly (location A)</option><option value="NC_000009.11_130577294_130616936" data-assembly="GRCh37.p13">NC_000009 Chromosome 9 Reference GRCh37.p13 Primary Assembly (location B)</option><option value="NC_060933.1_140022434_140062071" data-assembly="T2T-CHM13v2.0">NC_060933 Chromosome 9 Alternate T2T-CHM13v2.0 (location A)</option><option value="NG_009551.1_4995_44756" data-assembly="">NG_009551 RefSeqGene</option></select></div><script type="text/javascript" src="/projects/sviewer/js/sviewer.js" id="autoload"></script><div id="NC_000009" class="divAccession"><div class="seq-viewer"><p class="note-link"><strong>Go to nucleotide</strong><a href="/nuccore/NC_000009.12?report=graph&from=127809069&to=127860603&strand=true&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]" title="Nucleotide graphic report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000009.12">Graphics</a> <a href="/nuccore/NC_000009.12?report=fasta&from=127809069&to=127860603&strand=true" title="Nucleotide graphic report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000009.12">FASTA</a> <a href="/nuccore/NC_000009.12?report=genbank&from=127809069&to=127860603&strand=true" title="Nucleotide GenBank report" ref="ordinalpos=1&ncbi_uid=&link_uid=NC_000009.12">GenBank</a> </p><div id="divNC_000009" class="SeqViewerApp" style="clear:both;" data-sv="appname=ncbi-portal-gtr&embedded=true&noslider=1&id=NC_000009.12&from=127809069&to=127860603&strand=true&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]"><a href="?appname=ncbi-portal-gtr&embedded=true&noslider=1&id=NC_000009.12&from=127809069&to=127860603&strand=true&tracks=[key:sequence_track,name:Sequence,display_name:Sequence,category:Sequence,annots:Sequence,ShowLabel:false][key:gene_model_track,name:Genes---Unnamed,display_name:Genes,annots:Unnamed,Options:MergePairs,SNPs:false,CDSProductFeats:true,ShowLabelsForAllFeatures:true,HighlightMode:2][key:feature_track,name:Genes---other,display_name:Genes - other,subkey:ncRNA,annots:other,Layout:Adaptive][key:feature_track,name:Genes---tRNA,display_name:Genes - tRNA,subkey:tRNA,annots:tRNA,Layout:Adaptive][key:SNP_track,name:SNP,annots:SNP,Layout:Adaptive][key:SNP_Bins_track,name:Clinical Variants][key:SNP_Bins_track,name:Cited Variants][key:GWAS_track,name:GWAS Tracks,display_name:Association Results]"></a></div></div></div><input name="nucleotideLink_NC_000009.12" sid="1" type="hidden" id="nucleotideLink_NC_000009_12_127815015_127854657" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000009.12?report=graph&amp;from=127809069&amp;to=127860603&amp;strand=true&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000009.12">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000009.12?report=fasta&amp;from=127815016&amp;to=127854658&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000009.12">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000009.12?report=genbank&amp;from=127815016&amp;to=127854658&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000009.12">GenBank</a></p>" /><input name="relString_NC_000009.12" sid="1" type="hidden" id="relString_NC_000009_12_127815015_127854657" value="embedded=true&amp;noslider=1&amp;id=NC_000009.12&amp;from=127809069&amp;to=127860603&amp;strand=true&amp;content=5" /><input name="nucleotideLink_NG_009551.1" sid="1" type="hidden" id="nucleotideLink_NG_009551_1_4995_44756" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NG_009551.1?report=graph&amp;from=1&amp;to=50720&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_009551.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NG_009551.1?report=fasta&amp;from=4996&amp;to=44757" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_009551.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NG_009551.1?report=genbank&amp;from=4996&amp;to=44757" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NG_009551.1">GenBank</a></p>" /><input name="relString_NG_009551.1" sid="1" type="hidden" id="relString_NG_009551_1_4995_44756" value="embedded=true&amp;noslider=1&amp;id=NG_009551.1&amp;from=1&amp;to=50720&amp;content=5" /><input name="nucleotideLink_NC_060933.1" sid="1" type="hidden" id="nucleotideLink_NC_060933_1_140022434_140062071" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_060933.1?report=graph&amp;from=140016488&amp;to=140068017&amp;strand=true&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060933.1">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_060933.1?report=fasta&amp;from=140022435&amp;to=140062072&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060933.1">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_060933.1?report=genbank&amp;from=140022435&amp;to=140062072&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_060933.1">GenBank</a></p>" /><input name="relString_NC_060933.1" sid="1" type="hidden" id="relString_NC_060933_1_140022434_140062071" value="embedded=true&amp;noslider=1&amp;id=NC_060933.1&amp;from=140016488&amp;to=140068017&amp;strand=true&amp;content=5" /><input name="nucleotideLink_NC_000009.11" sid="1" type="hidden" id="nucleotideLink_NC_000009_11_130577294_130616936" value="<p class="note-link"><strong class="margin_r1">Go to nucleotide</strong><a title="Nucleotide Graphic report" href="/nuccore/NC_000009.11?report=graph&amp;from=130571348&amp;to=130622882&amp;strand=true&amp;content=5" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000009.11">Graphics</a><a title="Nucleotide FASTA report" href="/nuccore/NC_000009.11?report=fasta&amp;from=130577295&amp;to=130616937&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000009.11">FASTA</a><a title="Nucleotide GenBank report" href="/nuccore/NC_000009.11?report=genbank&amp;from=130577295&amp;to=130616937&amp;strand=true" ref="ordinalpos=1&amp;ncbi_uid=&amp;link_uid=NC_000009.11">GenBank</a></p>" /><input name="relString_NC_000009.11" sid="1" type="hidden" id="relString_NC_000009_11_130577294_130616936" value="embedded=true&amp;noslider=1&amp;id=NC_000009.11&amp;from=130571348&amp;to=130622882&amp;strand=true&amp;content=5" /></div></div><div id="variation"><h2>Variation</h2><div class="ui-ncbigrid-outer-div"><div class="ui-ncbigrid-inner-div"><table class="jig-ncbigrid" data-jigconfig=""><thead><tr><th>Resource</th><th>Links for this gene</th></tr></thead><tbody><tr><td>ClinVar</td><td><a href="/clinvar?LinkName=gene_clinvar&from_uid=2022" ref="log$=recordlinks">Variants reported to ClinVar</a></td></tr><tr><td>dbVar</td><td><a href="/dbvar?LinkName=gene_dbvar&from_uid=2022" ref="log$=recordlinks">Studies and variants</a></td></tr><tr><td>SNP</td><td><a href="https://www.ncbi.nlm.nih.gov/variation/view/?q=ENG%5bgenesymbol%5d&filters=source:dbsnp" ref="ncbi_uid=2022">Variation Viewer for ENG variants</a></td></tr><tr><td>Genome viewer</td><td><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?id=GSM923418,GSM923422,GSM923420&context=GEO&assm=GCF_000001405.25&q=ENG%5bgenesymbol%5d">Explore NCBI-annotated and select non-NCBI annotated genome assemblies</a></td></tr></tbody></table></div></div></div><div id="related-pubmed"><h2>Related articles in PubMed</h2><dl><dt><a href="/pubmed?LinkName=gene_pubmed_citedinomim&from_uid=2022" ref="ncbi_uid=2022&from=gtr_gene_related_pubmed_section" data-ga-label="pubmed_omim">PubMed-OMIM</a></dt><dd>publications in PubMed explicitly cited by the gene record in OMIM.
|
||
</dd><dt><a href="/pubmed/clinical/?term=ENG" data-ga-label="pubmed_clinical">PubMed Clinical Queries</a></dt><dd>publications in PubMed limited specific clinical
|
||
research.</dd><dt><a href="/pubmed/?LinkName=gene_pubmed&from_uid=2022" data-ga-label="pubmed_all_related">All related articles in PubMed</a></dt><dd>sorted by relevance are shown below. <a href="/pubmed/?LinkName=gene_pubmed&from_uid=2022" data-ga-label="pubmed_all_related">Click to see all (532) citations.</a></dd></dl><div class="generefbl-link"><ol class="generef-link"><li><a href="/pubmed/23163119/" ref="ncbi_uid=2022&link_uid=23163119" data-ga-label="pubmed_article">Clinical relevance of serum endoglin level in Egyptian hepatocellular carcinoma patients.</a><span class="pubmed-auth-date"><br />Elnemr DM, Abdel-Azeez HA, Labib HA, Abo-Taleb FMElnemr DM, <em>et al</em>. Clin Lab, 2012. PMID 23163119</span></li><li><a href="/pubmed/22453150/" ref="ncbi_uid=2022&link_uid=22453150" data-ga-label="pubmed_article">Influence of surgical resection on plasma endoglin (CD105) level in non‑small cell lung cancer patients.</a><span class="pubmed-auth-date"><br />Kopczyńska E, Dancewicz M, Kowalewski J, Makarewicz R, Kardymowicz H, Kaczmarczyk A, Tyrakowski TKopczyńska E, <em>et al</em>. Exp Oncol, 2012. PMID 22453150</span></li><li><a href="/pubmed/22587951/" ref="ncbi_uid=2022&link_uid=22587951" data-ga-label="pubmed_article">Human renal cancer stem cells.</a><span class="pubmed-auth-date"><br />Bussolati B, Dekel B, Azzarone B, Camussi GBussolati B, <em>et al</em>. Cancer Lett, 2013 Sep 10. PMID 22587951</span></li><li><a href="/pubmed/22608563/" ref="ncbi_uid=2022&link_uid=22608563" data-ga-label="pubmed_article">Role of endoglin in fibrosis and scleroderma.</a><span class="pubmed-auth-date"><br />Maring JA, Trojanowska M, ten Dijke PMaring JA, <em>et al</em>. Int Rev Cell Mol Biol, 2012. PMID 22608563</span></li><li><a href="/pubmed/9157574/" ref="ncbi_uid=2022&link_uid=9157574" data-ga-label="pubmed_article">A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia.</a><span class="pubmed-auth-date"><br />Yamaguchi H, Azuma H, Shigekiyo T, Inoue H, Saito SYamaguchi H, <em>et al</em>. Thromb Haemost, 1997 Feb. PMID 9157574</span></li></ol></div></div></div>
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