Aliases for ENG Gene
External Ids for ENG Gene
Previous HGNC Symbols for ENG Gene
Previous GeneCards Identifiers for ENG Gene
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]
GeneCards Summary for ENG Gene
ENG (Endoglin) is a Protein Coding gene. Diseases associated with ENG include Telangiectasia, Hereditary Hemorrhagic, Type 1 and Hereditary Hemorrhagic Telangiectasia. Among its related pathways are TGF-beta Receptor Signaling (WikiPathways) and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include protein homodimerization activity and glycosaminoglycan binding. An important paralog of this gene is TGFBR3.
UniProtKB/Swiss-Prot for ENG Gene
Major glycoprotein of vascular endothelium. Involved in the regulation of angiogenesis. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade. Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGF-beta1 signaling through SMAD3.