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ENG (NM_001114753) - endoglin

Endoglin Isoform 1 Precursor

PTM Interaction Network Visualisation

Protein summary

This is preferred isoform of ENG protein. View all 3 isoforms
ENG: endoglin isoform 1 precursor
Description:

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
15.05% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2022
UniProt
Ensembl