Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Eng. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Eng
  • performs the following molecular functions:
    • transforming growth factor beta binding ^[7]
  • is located in the following cellular components:
    • endothelial microparticle ^[4]
• Researchers have inferred, based on physical interactions, that the gene product of Eng
  • performs the following molecular functions:
    • protein homodimerization activity ^[7]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Eng
  • participates in the following biological processes:
    • angiogenesis ^{[1, 6]}
    • artery morphogenesis ^[3]
    • cell migration involved in endocardial cushion formation ^[5]
    • heart development ^{[1, 2]}
    • heart looping ^[3]
    • patterning of blood vessels ^[3]
    • smooth muscle tissue development ^[3]
    • vasculogenesis ^{[2, 3]}
    • venous blood vessel morphogenesis ^[3]
• Based on the experimental annotations above, MGI curators have inferred, that the gene product of Eng
  • participates in the following biological processes:
    • transforming growth factor beta receptor signaling pathway ^[7]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Eng:
  • participates in the following biological processes:
    • cell chemotaxis
    • cell migration
    • cell motility
    • central nervous system vasculogenesis
    • detection of hypoxia
    • extracellular matrix disassembly
    • negative regulation of cell migration
    • negative regulation of endothelial cell proliferation
    • negative regulation of nitric-oxide synthase activity
    • negative regulation of pathway-restricted SMAD protein phosphorylation
    • negative regulation of protein autophosphorylation
    • negative regulation of transcription from RNA polymerase II promoter
    • positive regulation of BMP signaling pathway
    • positive regulation of pathway-restricted SMAD protein phosphorylation
    • positive regulation of protein phosphorylation
    • positive regulation of systemic arterial blood pressure
    • positive regulation of transcription from RNA polymerase II promoter
    • regulation of transcription, DNA-dependent
    • regulation of transforming growth factor beta receptor signaling pathway
    • response to hypoxia
    • transforming growth factor beta receptor signaling pathway
    • vasculogenesis
    • wound healing
  • performs the following molecular functions:
    • galactose binding
    • glycosaminoglycan binding
    • protein homodimerization activity
    • transforming growth factor beta binding
    • transforming growth factor beta receptor, cytoplasmic mediator activity
    • transforming growth factor beta-activated receptor activity
    • type I transforming growth factor beta receptor binding
    • type II transforming growth factor beta receptor binding
  • is located in the following cellular components:
    • cell surface
    • cytoplasm
    • external side of plasma membrane
    • extracellular space
    • nucleus

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Eng indicates that it:
  • participates in the following biological processes:
    • cell adhesion
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Arthur HM et al. (2000) Endoglin, an ancillary TGFbeta receptor, is required for extraembryonic angiogenesis and plays a key role in heart development. Dev Biol, 217:42-53. (PubMed:10625534)
2. Bourdeau A et al. (1999) A murine model of hereditary hemorrhagic telangiectasia [see comments] J Clin Invest, 104:1343-51. (PubMed:10562296)
3. Li DY et al. (1999) Defective angiogenesis in mice lacking endoglin. Science, 284:1534-7. (PubMed:10348742)
4. Li W et al. (2010) CD36 participates in a signaling pathway that regulates ROS formation in murine VSMCs. J Clin Invest, 120:3996-4006. (PubMed:20978343)
5. Nomura-Kitabayashi A et al. (2009) Endoglin is dispensable for angiogenesis, but required for endocardial cushion formation in the midgestation mouse embryo. Dev Biol, 335:66-77. (PubMed:19703439)
6. Sorensen LK et al. (2003) Loss of distinct arterial and venous boundaries in mice lacking endoglin, a vascular-specific TGFbeta coreceptor. Dev Biol, 261:235-50. (PubMed:12941632)
7. St-Jacques S et al. (1994) Molecular characterization and in situ localization of murine endoglin reveal that it is a transforming growth factor-beta binding protein of endothelial and stromal cells. Endocrinology, 134:2645-57. (PubMed:8194490)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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