ENG (NM_001114753) - endoglin
Endoglin Isoform 1 Precursor
Legend
Protein
Kinases
Sites
Color corresponds to (the most severe) impact of mutations on given site:
Interactions
If you have any questions or feedback about this protein:
Contact us
PTM Interaction Network Visualisation
Protein 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].
- Strand
- -
- Chromosome
- 9
- Protein
- 658 residues
- All mutations
- 227
- PTM sites
- 10
- CDS
- 130,577,960 - 130,616,634
- Transcription
- 130,577,290 - 130,617,052
Usage summary
Network
PTM site
Kinases group
|
Kinase, PTM site or protein
|