Homo sapiens Gene: ENG
Summary
InnateDB Gene IDBG-86582.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ENG
Gene Name endoglin
Synonyms END; HHT1; ORW1;
Species Homo sapiens
Ensembl Gene ENSG00000106991
Encoded Proteins
endoglin
endoglin
endoglin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 TGFB1 and TGFB3 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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:127815012-127854756
Strand Reverse strand
Band q34.11
Transcripts
ENST00000373203 ENSP00000362299
ENST00000344849 ENSP00000341917
ENST00000480266 ENSP00000479015
ENST00000486329
ENST00000462196
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 34 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 34 [view]
Protein-Protein 32 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004888 transmembrane signaling receptor activity
GO:0005024 transforming growth factor beta-activated receptor activity
GO:0005072 transforming growth factor beta receptor, cytoplasmic mediator activity
GO:0005114 type II transforming growth factor beta receptor binding
GO:0005515 protein binding
GO:0005534 galactose binding
GO:0005539 glycosaminoglycan binding
GO:0034713 type I transforming growth factor beta receptor binding
GO:0042803 protein homodimerization activity
GO:0048185 activin binding
GO:0050431 transforming growth factor beta binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001300 chronological cell aging
GO:0001525 angiogenesis
GO:0001569 patterning of blood vessels
GO:0001570 vasculogenesis
GO:0001666 response to hypoxia
GO:0001934 positive regulation of protein phosphorylation
GO:0001937 negative regulation of endothelial cell proliferation
GO:0001947 heart looping
GO:0003084 positive regulation of systemic arterial blood pressure
GO:0003273 cell migration involved in endocardial cushion formation
GO:0006355 regulation of transcription, DNA-templated
GO:0007155 cell adhesion
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007507 heart development
GO:0010628 positive regulation of gene expression
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0016477 cell migration
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0022009 central nervous system vasculogenesis
GO:0022617 extracellular matrix disassembly
GO:0030155 regulation of cell adhesion
GO:0030336 negative regulation of cell migration
GO:0030509 BMP signaling pathway
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030513 positive regulation of BMP signaling pathway
GO:0031953 negative regulation of protein autophosphorylation
GO:0031960 response to corticosteroid
GO:0032967 positive regulation of collagen biosynthetic process
GO:0035556 intracellular signal transduction
GO:0036273 response to statin
GO:0042060 wound healing
GO:0042127 regulation of cell proliferation
GO:0042325 regulation of phosphorylation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048745 smooth muscle tissue development
GO:0048844 artery morphogenesis
GO:0048845 venous blood vessel morphogenesis
GO:0048870 cell motility
GO:0051001 negative regulation of nitric-oxide synthase activity
GO:0060326 cell chemotaxis
GO:0060348 bone development
GO:0060394 negative regulation of pathway-restricted SMAD protein phosphorylation
GO:0070278 extracellular matrix constituent secretion
GO:0070483 detection of hypoxia
GO:0071260 cellular response to mechanical stimulus
GO:0071559 response to transforming growth factor beta
Cellular Component
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0070022 transforming growth factor beta receptor homodimeric complex
GO:0072563 endothelial microparticle
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
ALK1 signaling events
HIF-1-alpha transcription factor network
Cross-References
SwissProt
TrEMBL F5GX88
UniProt Splice Variant
Entrez Gene 2022
UniGene
RefSeq NM_001278138 NM_000118 NM_001114753
HUGO HGNC:3349
OMIM 131195
CCDS CCDS75906 CCDS48029 CCDS6880
HPRD
IMGT
EMBL AL157935 AL162586
GenPept
RNA Seq Atlas 2022