ENG Gene Summary [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]
Details
| Type | Protein Coding |
| Official Symbol | ENG |
| Official Name | endoglin [Source:HGNC Symbol;Acc:HGNC:3349] |
| Ensembl ID | ENSG00000106991 |
| Bio databases IDs | |
| Aliases | endoglin |
| Synonyms | AI662476, CD105, CELL ADHESION REGULATOR, END, Endo, Endoglin, HHT1, ORW1, S-endoglin |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ENG often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- punt binding
- cytokine binding
- ectodomain
- receptor activator
- activin binding
- RGD motif
- protein binding
- TGFbeta binding
- identical protein binding
- glycosaminoglycan binding
- phosphorylation site
- cytoplasmic domain
- galactose binding
- transforming growth factor-beta receptor binding
- transmembrane domain
- protein homodimerization
- cytosolic tail domain
- PDZ binding motif
- transmembrane receptor
- coreceptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- intracranial arteriovenous malformation
- hereditary hemorrhagic telangiectasia type 1
- hereditary hemorrhagic telangiectasia
- tuberous sclerosis complex
- pancreatic neoplasia
- acute graft-vs-host disease
- hypertension
- preeclampsia
- hereditary hemorrhagic telangiectasia-related pulmonary arterial hypertension
role in cell
- expression in
- chemotaxis
- migration
- activation in
- proliferation
- phosphorylation in
- binding
- loss
- adhesion
- signaling in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- endothelial microparticle
- Cytoplasm
- cell surface
- Extracellular Space
- cellular membrane
- focal adhesions
- Nucleus
- vesicles
- intercellular junctions
- membrane ruffles
- plasma membrane extracellular face
- nuclear bodies
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ENG gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sprouting angiogenesis
- transforming growth factor beta receptor signaling pathway
- cell migration involved in endocardial cushion formation
- cell adhesion
- response to xenobiotic stimulus
- vasculogenesis
- central nervous system vasculogenesis
- epithelial to mesenchymal transition involved in endocardial cushion formation
- positive regulation of transcription from RNA polymerase II promoter
- positive regulation of angiogenesis
- bone development
- endocardial cushion morphogenesis
- outflow tract septum morphogenesis
- positive regulation of collagen biosynthetic process
- patterning of blood vessels
- cardiac ventricle morphogenesis
- cardiac atrium morphogenesis
- BMP signaling pathway
- heart looping
- dorsal aorta morphogenesis
- positive regulation of SMAD protein import into nucleus
- cell migration
- regulation of cell proliferation involved in heart morphogenesis
- atrial cardiac muscle tissue morphogenesis
- venous blood vessel morphogenesis
- smooth muscle tissue development
- artery morphogenesis
- regulation of transcription, DNA-dependent
- vascular smooth muscle cell development
- ventricular trabecula myocardium morphogenesis
- positive regulation of BMP signaling pathway
- negative regulation of gene expression
- cellular response to mechanical stimulus
- positive regulation of gene expression
- positive regulation of protein phosphorylation
- regulation of cardiac muscle cell apoptotic process
- epithelial to mesenchymal transition
- extracellular matrix constituent secretion
- regulation of transforming growth factor beta receptor signaling pathway
- negative regulation of cell migration
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- extracellular space
- nuclear body
- focal adhesion
- endothelial microparticle
- external side of plasma membrane
- receptor complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- BMP binding
- coreceptor activity
- identical protein binding
- protein homodimerization activity
- transforming growth factor beta-activated receptor activity
- type II transforming growth factor beta receptor binding
- galactose binding
- transforming growth factor beta binding
- receptor activator activity
- protein binding
- activin binding
- transmembrane signaling receptor activity
- glycosaminoglycan binding
- type I transforming growth factor beta receptor binding