Version 5.4
Mus musculus Gene: Eng
Summary
InnateDB Gene IDBG-160783.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Eng
Gene Name endoglin
Synonyms AI528660; AI662476; CD105; Endo; S-endoglin
Species Mus musculus
Ensembl Gene ENSMUSG00000026814
Encoded Proteins
IDBP-160785
endoglin
IDBP-254241
endoglin
IDBP-535991
endoglin
IDBP-623302
endoglin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000106991:
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 2:32646595-32682669
Strand Forward strand
Band B
Transcripts
ENSMUST00000009705 ENSMUSP00000009705
ENSMUST00000113272 ENSMUSP00000108897
ENSMUST00000139770
ENSMUST00000156306 ENSMUSP00000122186
ENSMUST00000138600
ENSMUST00000167841 ENSMUSP00000130585
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
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: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:0030336 negative regulation of cell migration
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:0045766 positive regulation of angiogenesis
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:0016021 integral component of membrane
GO:0072563 endothelial microparticle
Orthologs
Species
Homo sapiens
Gene ID
Gene Order
ENSG00000106991
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_7
TGF_beta_Receptor pathway
REACTOME
KEGG
INOH
PID NCI
alk1pathway
ALK1 signaling events
hif1_tfpathway
HIF-1-alpha transcription factor network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.225297
RefSeq NM_001146348 NM_001146350 NM_007932
OMIM
CCDS CCDS15925 CCDS50569 CCDS50570
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca