ENG siRNA – Endoglin Isoform 2 (Human)

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]

ENG: Major glycoprotein of vascular endothelium. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Homodimer that forms an heteromeric complex with the signaling receptors for transforming growth factor-beta: TGFBR1 and/or TGFBR2. It is able to bind TGF-beta 1, and 3 efficiently and TGF-beta 2 less efficiently. Interacts with TCTEX1D4. Interacts with ARRB2. Endoglin is restricted to endothelial cells in all tissues except bone marrow. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Membrane protein, integral; Receptor, misc.

Chromosomal Location of Human Ortholog: 9q34.11

Cellular Component: nucleoplasm; extracellular space; cell surface; focal adhesion; cytoplasm; receptor complex; external side of plasma membrane

Molecular Function: transforming growth factor beta receptor activity; protein binding; glycosaminoglycan binding; transmembrane receptor activity; protein homodimerization activity; transforming growth factor beta binding; galactose binding; punt binding; activin binding; transforming growth factor beta receptor, cytoplasmic mediator activity

Biological Process: wound healing; positive regulation of collagen biosynthetic process; cell motility involved in cell locomotion; positive regulation of systemic arterial blood pressure; negative regulation of transcription from RNA polymerase II promoter; response to corticosteroid stimulus; BMP signaling pathway; extracellular matrix disassembly; smooth muscle development; central nervous system vasculogenesis; venous blood vessel morphogenesis; regulation of transforming growth factor beta receptor signaling pathway; regulation of transcription, DNA-dependent; transforming growth factor beta receptor signaling pathway; negative regulation of protein amino acid autophosphorylation; heart looping; cell adhesion; vasculogenesis; chronological cell aging; negative regulation of cell migration; positive regulation of BMP signaling pathway; regulation of cell adhesion; cell migration; negative regulation of nitric-oxide synthase activity; regulation of phosphorylation; regulation of cell proliferation; patterning of blood vessels; negative regulation of endothelial cell proliferation; response to hypoxia; artery morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein amino acid phosphorylation; negative regulation of transforming growth factor beta receptor signaling pathway

Disease: Telangiectasia, Hereditary Hemorrhagic, Of Rendu, Osler, And Weber