Endoglin

Endoglin (Osler-Rendu-Weber syndrome 1)
Identifiers
Symbol(s)	ENG; CD105; END; FLJ41744; HHT1; ORW; ORW1
External IDs	OMIM: 131195 MGI: 95392 Homologene: 92
Gene Ontology Molecular Function: • protein binding Cellular Component: • integral to plasma membrane • membrane • integral to membrane Biological Process: • angiogenesis • transport • cell adhesion • heart development • circulation • organ morphogenesis • regulation of transforming growth factor beta receptor signaling pathway • regulation of transcription
RNA expression pattern
Additional recommended knowledge Better weighing performance in 6 easy steps Correct Test Weight Handling Guide: 12 Practical Tips Safe Weighing Range Ensures Accurate Results More reference expression data
Orthologs
	Human	Mouse
Entrez	2022	13805
Ensembl	ENSG00000106991	ENSMUSG00000026814
Uniprot	P17813	Q3UAM9
Refseq	NM_000118 (mRNA) NP_000109 (protein)	NM_007932 (mRNA) NP_031958 (protein)
Location	Chr 9: 129.62 - 129.66 Mb	Chr 2: 32.47 - 32.5 Mb
Pubmed search	[1]	[2]

Endoglin is a type I membrane glycoprotein located on cell surfaces and is part of the TGF beta receptor complex.

The protein consists of a homodimer of 180 kDA with disulfide links. ^[1] It has been found on endothelial cells, activated macrophages, fibroblasts, and smooth muscle cells.

Endoglin has been found to be part of the TGF-beta1 receptor complex. It thus may be involved in the binding of TGF-beta1, TGF-beta3, activin-A, BMP-2, and BMP-7. Beside TGF-beta signaling endoglin may have other functions. It has been postulated that endoglin is involved in the cytoskeletal organization affecting cell morphology and migration. ^[2] Endoglin has a role in the development of the cardiovascular system and in vascular remodeling. Its expression is regulated during heart development . Experimental mice without the endoglin gene die due to cardiovascular abnormalities.^[2]

In humans endoglin may be involved in the autosomal dominant disorder known as hereditary hemorrhagic telangiectasia type 1.^[1] This condition leads to frequent nose bleeds, telangiectases on skin and mucosa and may cause arteriovenous malformations in different organs including brain, lung, and liver.

Endoglin levels have been found to be elevated in pregnant women who subsequently develop preeclampsia. ^[3]

References

Further reading