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Gene Ontology Classifications
Symbol
Name
ID
Eng
endoglin
MGI:95392

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GO curators for mouse genes have assigned the following annotations to the gene product of Eng. (This text reflects annotations as of Thursday, July 24, 2014.)
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 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]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
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)
  8. Wang X et al. (2013) LRG1 promotes angiogenesis by modulating endothelial TGF-beta signalling. Nature, 499:306-11. (PubMed:23868260)



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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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory