ENG

Gene Information

Official Symbol: ENG
Official Name: endoglin
Aliases and Previous Symbols: N/A
Entrez ID: 2022
UniProt: P17813
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics 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

Essentiality in NALM6

Essentiality Rank: 9124
Expression level (log2 read counts): 5.29

Expression Distribution

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