Endoglin (ENG)

CD105; END; HHT1; ORW; ORW1; Osler-Rendu-Weber Syndrome 1

SPN	V832
HGNC	3349
MGI	95392
PubMed	12228247
RGD	1593188
UniProt	P17813
Wiki	Endoglin

Endoglin has a calculated monomeric molecular mass of 61 kDa but as a result of glycosylation, migrates at approximately 75 - 85 kDa under reducing conditions in SDS-PAGE.

Endoglin, also known as CD105, is a Type I integral membrane glycoprotein with a large, disulfide-linked, extracellular region and a short, constitutively phosphorylated, cytoplasmic tail. Two splice variants of human endoglin, the S-endoglin and L-endoglin that differ in the length of their cytoplasmic tails have been identified. Endoglin is highly expressed on vascular endothelial cells, chondrocytes, and syncytiotrophoblasts of term placenta. It is also found on activated monocytes, bone marrow pro-erythroblasts, and leukemic cells of lymphoid and myeloid lineages.

Reference

"Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions."
Eur. J. Immunol. 23:2340-2345(1993) [PubMed] [Europe PMC] [Abstract]

"DNA sequence and analysis of human chromosome 9."
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

"Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells."
J. Biol. Chem. 265:8361-8364(1990) [PubMed] [Europe PMC] [Abstract]

"Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1."
Nat. Genet. 8:345-351(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors."
J. Biol. Chem. 281:37069-37080(2006) [PubMed] [Europe PMC] [Abstract]

"The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells."
J. Biol. Chem. 282:21507-21517(2007) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"Soluble endoglin specifically binds bone morphogenetic proteins 9 and 10 via its orphan domain, inhibits blood vessel formation, and suppresses tumor growth."
J. Biol. Chem. 286:30034-30046(2011) [PubMed] [Europe PMC] [Abstract]

"Structural and functional insights into endoglin ligand recognition and binding."
PLoS ONE 7:E29948-E29948(2012) [PubMed] [Europe PMC] [Abstract]

"Endoglin requirement for BMP9 signaling in endothelial cells reveals new mechanism of action for selective anti-endoglin antibodies."
PLoS ONE 7:E50920-E50920(2012) [PubMed] [Europe PMC] [Abstract]

"Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia."
Am. J. Hum. Genet. 61:68-79(1997) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia."
Thromb. Haemost. 77:243-247(1997) [PubMed] [Europe PMC] [Abstract]

"Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles."
Hum. Mutat. 11:286-294(1998) [PubMed] [Europe PMC] [Abstract]

"Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1."
Hum. Mol. Genet. 8:2171-2181(1999) [PubMed] [Europe PMC] [Abstract]

"Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect."
Hum. Genet. 107:40-44(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin."
Pediatr. Res. 47:24-35(2000) [PubMed] [Europe PMC] [Abstract]

"Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France."
Hum. Mutat. 23:289-299(2004) [PubMed] [Europe PMC] [Abstract]

"Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations."
Hum. Mutat. 25:320-320(2005) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
Hum. Mutat. 27:667-675(2006) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."
Int. J. Mol. Med. 17:655-659(2006) [PubMed] [Europe PMC] [Abstract]

"Update on molecular diagnosis of hereditary hemorrhagic telangiectasia."
Hum. Genet. 128:61-77(2010) [PubMed] [Europe PMC] [Abstract]