ENG [The Human Chemical-Genetic Interaction Map Project]

This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong.
======= ENG =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ENG
  * **<color #00a2e8>Official Name</color>**: endoglin
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2022|2022]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P17813|P17813]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ENG&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ENG|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/131195|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529). {ECO:0000250|UniProtKB:Q63961, ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:21737454, ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:7894484, ECO:0000269|PubMed:8370410, ECO:0000305|PubMed:1692830}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Zona pellucida|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|atrioventricular canal morphogenesis|
|endothelial microparticle|
|transforming growth factor beta receptor, cytoplasmic mediator activity|
|chronological cell aging|
|extracellular matrix constituent secretion|
|cell migration involved in endocardial cushion formation|
|regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis|
|establishment of endothelial blood-brain barrier|
|central nervous system vasculogenesis|
|endocardial cushion to mesenchymal transition|
|galactose binding|
|regulation of neural crest cell differentiation|
|positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation|
|positive regulation of vascular smooth muscle cell differentiation|
|atrial cardiac muscle tissue morphogenesis|
|establishment of blood-brain barrier|
|atrial cardiac muscle tissue development|
|type II transforming growth factor beta receptor binding|
|regulation of epithelial to mesenchymal transition involved in endocardial cushion formation|
|dorsal aorta morphogenesis|
|positive regulation of cardiac epithelial to mesenchymal transition|
|venous blood vessel morphogenesis|
|dorsal aorta development|
|vascular smooth muscle cell development|
|regulation of cardiac epithelial to mesenchymal transition|
|BMP binding|
|type I transforming growth factor beta receptor binding|
|positive regulation of smooth muscle cell differentiation|
|negative regulation of protein autophosphorylation|
|epithelial to mesenchymal transition involved in endocardial cushion formation|
|regulation of vascular smooth muscle cell differentiation|
|vascular smooth muscle cell differentiation|
|activin binding|
|cell migration involved in heart development|
|venous blood vessel development|
|ventricular trabecula myocardium morphogenesis|
|smooth muscle tissue development|
|regulation of cell proliferation involved in heart morphogenesis|
|endocardial cushion formation|
|transforming growth factor beta binding|
|glycosaminoglycan binding|
|positive regulation of collagen biosynthetic process|
|positive regulation of collagen metabolic process|
|branching involved in blood vessel morphogenesis|
|cardiac epithelial to mesenchymal transition|
|outflow tract septum morphogenesis|
|aorta morphogenesis|
|cardiac atrium morphogenesis|
|regulation of smooth muscle cell differentiation|
|positive regulation of BMP signaling pathway|
|heart trabecula morphogenesis|
|smooth muscle cell differentiation|
|establishment of endothelial barrier|
|regulation of collagen biosynthetic process|
|cardiac atrium development|
|endocardial cushion morphogenesis|
|regulation of cardiac muscle cell apoptotic process|
|regulation of striated muscle cell apoptotic process|
|regulation of heart morphogenesis|
|regulation of collagen metabolic process|
|endocardial cushion development|
|trabecula morphogenesis|
|positive regulation of epithelial to mesenchymal transition|
|regulation of protein autophosphorylation|
|ventricular cardiac muscle tissue morphogenesis|
|positive regulation of pathway-restricted SMAD protein phosphorylation|
|regulation of cardiocyte differentiation|
|endothelial cell development|
|mesenchyme morphogenesis|
|aorta development|
|ventricular cardiac muscle tissue development|
|sprouting angiogenesis|
|heart looping|
|artery morphogenesis|
|regulation of pathway-restricted SMAD protein phosphorylation|
|cell aging|
|embryonic heart tube morphogenesis|
|determination of heart left/right asymmetry|
|vasculogenesis|
|regulation of muscle cell apoptotic process|
|cardiac muscle tissue morphogenesis|
|epithelial to mesenchymal transition|
|cardiac ventricle morphogenesis|
|outflow tract morphogenesis|
|cardiac septum morphogenesis|
|embryonic heart tube development|
|cellular response to mechanical stimulus|
|muscle tissue morphogenesis|
|positive regulation of animal organ morphogenesis|
|endothelial cell differentiation|
|regulation of epithelial to mesenchymal transition|
|artery development|
|muscle organ morphogenesis|
|positive regulation of muscle cell differentiation|
|regulation of BMP signaling pathway|
|BMP signaling pathway|
|endothelium development|
|positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|response to BMP|
|cellular response to BMP stimulus|
|cardiac septum development|
|regulation of transforming growth factor beta receptor signaling pathway|
|regulation of cellular response to transforming growth factor beta stimulus|
|determination of left/right symmetry|
|regulation of stem cell differentiation|
|determination of bilateral symmetry|
|specification of symmetry|
|cardiac chamber morphogenesis|
|cardiac ventricle development|
|branching morphogenesis of an epithelial tube|
|transmembrane signaling receptor activity|
|muscle cell development|
|regulation of muscle cell differentiation|
|mesenchymal cell differentiation|
|morphogenesis of a branching epithelium|
|response to corticosteroid|
|response to transforming growth factor beta|
|cardiac muscle tissue development|
|positive regulation of angiogenesis|
|positive regulation of protein kinase B signaling|
|morphogenesis of a branching structure|
|cardiac chamber development|
|positive regulation of vasculature development|
|epithelial cell development|
|transmembrane receptor protein serine/threonine kinase signaling pathway|
|bone development|
|receptor complex|
|response to mechanical stimulus|
|regulation of protein kinase B signaling|
|mesenchyme development|
|regulation of transmembrane receptor protein serine/threonine kinase signaling pathway|
|muscle cell differentiation|
|heart morphogenesis|
|regulation of animal organ morphogenesis|
|negative regulation of cell migration|
|regulation of cellular response to growth factor stimulus|
|negative regulation of cell motility|
|aging|
|striated muscle tissue development|
|regulation of angiogenesis|
|embryonic organ morphogenesis|
|muscle organ development|
|muscle tissue development|
|epithelial tube morphogenesis|
|negative regulation of cellular component movement|
|cellular response to abiotic stimulus|
|cellular response to environmental stimulus|
|angiogenesis|
|regulation of vasculature development|
|negative regulation of locomotion|
|response to steroid hormone|
|cellular response to external stimulus|
|extracellular matrix organization|
|extracellular structure organization|
|external side of plasma membrane|
|negative regulation of protein phosphorylation|
|blood vessel morphogenesis|
|focal adhesion|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|negative regulation of phosphorylation|
|muscle structure development|
|blood vessel development|
|skeletal system development|
|cellular response to growth factor stimulus|
|vasculature development|
|cardiovascular system development|
|heart development|
|response to growth factor|
|negative regulation of phosphate metabolic process|
|negative regulation of phosphorus metabolic process|
|tissue morphogenesis|
|embryonic morphogenesis|
|negative regulation of protein modification process|
|tube morphogenesis|
|epithelial cell differentiation|
|enzyme linked receptor protein signaling pathway|
|tube development|
|regulation of cell migration|
|response to lipid|
|circulatory system development|
|protein homodimerization activity|
|anatomical structure formation involved in morphogenesis|
|response to hormone|
|regulation of cell motility|
|response to organic cyclic compound|
|cell adhesion|
|regulation of cell development|
|biological adhesion|
|animal organ morphogenesis|
|cell migration|
|positive regulation of cell differentiation|
|embryo development|
|central nervous system development|
|regulation of locomotion|
|regulation of cellular component movement|
|secretion by cell|
|positive regulation of protein phosphorylation|
|positive regulation of intracellular signal transduction|
|response to drug|
|negative regulation of cellular protein metabolic process|
|export from cell|
|positive regulation of phosphorylation|
|regulation of anatomical structure morphogenesis|
|identical protein binding|
|localization of cell|
|cell motility|
|negative regulation of protein metabolic process|
|epithelium development|
|secretion|
|positive regulation of phosphorus metabolic process|
|positive regulation of phosphate metabolic process|
|response to abiotic stimulus|
|positive regulation of transcription by RNA polymerase II|
|cellular response to endogenous stimulus|
|positive regulation of protein modification process|
|locomotion|
|positive regulation of developmental process|
|regulation of protein phosphorylation|
|response to endogenous stimulus|
|positive regulation of transcription, DNA-templated|
|regulation of apoptotic process|
|movement of cell or subcellular component|
|regulation of programmed cell death|
|regulation of phosphorylation|
|extracellular space|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cell development|
|positive regulation of signal transduction|
|regulation of cell death|
|positive regulation of protein metabolic process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|tissue development|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp217|Mdivi-1 15μM R05 exp217]]|1.7|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 9124
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.29 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ENG Expression in NALM6 Cells: 5.29'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>