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Gene Review

ENG  -  endoglin

Homo sapiens

Synonyms: CD105, END, Endoglin, HHT1, ORW1
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Disease relevance of ENG


Psychiatry related information on ENG


High impact information on ENG


Chemical compound and disease context of ENG


Biological context of ENG


Anatomical context of ENG

  • The TGFB signalling associated receptors ENG and ALK1 were co-expressed in 4 of the cell lines [20].
  • In the current study, umbilical cord and placenta samples from newborns with ENG mutations were analyzed to estimate the level of corresponding protein and look for potential vascular dysplasia [21].
  • Thus, blood vessels from HHT1 individuals are maintained intact in the umbilical vein and placenta during pregnancy and delivery, despite a significant reduction in endoglin expression [21].
  • We observed significantly lower values in the HHT1 group, compared to the non-HHT group for the umbilical vein (n=9; median 0.6 vs 0.9; ranges 0.2-1.0 and 0.5-1.5) and for placental stem villus vessels (n=9 and 10; median 0.42 vs 0.93; ranges 0.24-0.58 and 0.56-1.18) [21].
  • CD105 expression was intense and restricted to capillary endothelial cells in cancer lesions (>73%) [5].

Associations of ENG with chemical compounds

  • Endoglin (CD105) is a transmembrane glycoprotein that binds transforming growth factor (TGF)-beta1 and -beta3, and coprecipitates with the Ser/Thr kinase signaling receptor complex by affinity labeling of endothelial and leukemic cells [22].
  • CD4(+) T cells constitutively expressed CD105 in memory T cells and partially also in naive T cells; however, surface expression is regulated and is increased following TCR engagement, which induced serine/threonine phosphorylation of CD105 [23].
  • When analysing patient 700/01 and his affected daughter, we encountered a mutant ENG allele with two mutations--a deletion in exon 7 and a substitution in exon 12--which converts isoleucine 575 into threonine, in a non-conserved region [24].
  • Use of Implanon (etonogestrel subdermal implant, referred to herein as ENG implant) for up to 2 years had no clinically significant effects on laboratory parameters, physical and pelvic examinations, vital signs or body mass index [25].
  • Apoprotein A-I (Apo A-I) increased by 9% with ENA and by 11% with EED (p less than 0.05), but did not change significantly with ENG [26].

Regulatory relationships of ENG


Other interactions of ENG


Analytical, diagnostic and therapeutic context of ENG


  1. Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients. Letteboer, T.G., Zewald, R.A., Kamping, E.J., de Haas, G., Mager, J.J., Snijder, R.J., Lindhout, D., Hennekam, F.A., Westermann, C.J., Ploos van Amstel, J.K. Hum. Genet. (2005) [Pubmed]
  2. Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients. Lesca, G., Burnichon, N., Raux, G., Tosi, M., Pinson, S., Marion, M.J., Babin, E., Gilbert-Dussardier, B., Rivière, S., Goizet, C., Faivre, L., Plauchu, H., Frébourg, T., Calender, A., Giraud, S. Hum. Mutat. (2006) [Pubmed]
  3. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Johnson, D.W., Berg, J.N., Baldwin, M.A., Gallione, C.J., Marondel, I., Yoon, S.J., Stenzel, T.T., Speer, M., Pericak-Vance, M.A., Diamond, A., Guttmacher, A.E., Jackson, C.E., Attisano, L., Kucherlapati, R., Porteous, M.E., Marchuk, D.A. Nat. Genet. (1996) [Pubmed]
  4. Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Bayrak-Toydemir, P., McDonald, J., Markewitz, B., Lewin, S., Miller, F., Chou, L.S., Gedge, F., Tang, W., Coon, H., Mao, R. Am. J. Med. Genet. A (2006) [Pubmed]
  5. Organ-specific endoglin (CD105) expression in the angiogenesis of human cancers. Minhajat, R., Mori, D., Yamasaki, F., Sugita, Y., Satoh, T., Tokunaga, O. Pathol. Int. (2006) [Pubmed]
  6. Hereditary hemorrhagic telangiectasia: clinical features in ENG and ALK1 mutation carriers. Sabbà, C., Pasculli, G., Lenato, G.M., Suppressa, P., Lastella, P., Memeo, M., Dicuonzo, F., Guant, G. J. Thromb. Haemost. (2007) [Pubmed]
  7. Preoperative plasma endoglin levels predict biochemical progression after radical prostatectomy. Svatek, R.S., Karam, J.A., Roehrborn, C.G., Karakiewicz, P.I., Slawin, K.M., Shariat, S.F. Clin. Cancer Res. (2008) [Pubmed]
  8. Clinical electrophysiology in myasthenia gravis. Stalberg, E. J. Neurol. Neurosurg. Psychiatr. (1980) [Pubmed]
  9. Vestibular ENG findings in a patient with agoraphobia. Brookler, K.H. Ear, nose, & throat journal. (2004) [Pubmed]
  10. Stapedius reflex test, brainstem audiometry and opto-vestibular tests in diagnosis of acoustic neurinomas. A comparison of test sensitivity in patients with moderate hearing loss. Bergenius, J., Borg, E., Hirsch, A. Scandinavian audiology. (1983) [Pubmed]
  11. A murine model of hereditary hemorrhagic telangiectasia. Bourdeau, A., Dumont, D.J., Letarte, M. J. Clin. Invest. (1999) [Pubmed]
  12. Mutant endoglin in hereditary hemorrhagic telangiectasia type 1 is transiently expressed intracellularly and is not a dominant negative. Pece, N., Vera, S., Cymerman, U., White, R.I., Wrana, J.L., Letarte, M. J. Clin. Invest. (1997) [Pubmed]
  13. CEACAM engagement by human pathogens enhances cell adhesion and counteracts bacteria-induced detachment of epithelial cells. Muenzner, P., Rohde, M., Kneitz, S., Hauck, C.R. J. Cell Biol. (2005) [Pubmed]
  14. Chronic idiopathic myelofibrosis: independent prognostic importance of bone marrow microvascular density evaluated by CD105 (endoglin) immunostaining. Ponzoni, M., Savage, D.G., Ferreri, A.J., Pruneri, G., Viale, G., Servida, P., Bertolini, F., Orazi, A. Mod. Pathol. (2004) [Pubmed]
  15. Total extrinsic ophthalmoplegia as only paraneoplastic sign two years before X-ray diagnosis of bronchial carcinoma. Barontini, F., Maurri, S., Marini, P. Italian journal of neurological sciences. (1985) [Pubmed]
  16. Hypoxic induction of endoglin via mitogen-activated protein kinases in mouse brain microvascular endothelial cells. Zhu, Y., Sun, Y., Xie, L., Jin, K., Sheibani, N., Greenberg, D.A. Stroke (2003) [Pubmed]
  17. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Bossler, A.D., Richards, J., George, C., Godmilow, L., Ganguly, A. Hum. Mutat. (2006) [Pubmed]
  18. Hereditary hemorrhagic telangiectasia. Genetics, pathogenesis, clinical manifestation and management. Stuhrmann, M., El-Harith, e.l.-.H.A. Saudi medical journal (2007) [Pubmed]
  19. Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. Sanz-Rodriguez, F., Fernandez-L, A., Zarrabeitia, R., Perez-Molino, A., Ramírez, J.R., Coto, E., Bernabeu, C., Botella, L.M. Clin. Chem. (2004) [Pubmed]
  20. Altered expression of TGFB receptors and mitogenic effects of TGFB in pancreatic carcinomas. Jonson, T., Albrechtsson, E., Axelson, J., Heidenblad, M., Gorunova, L., Johansson, B., Höglund, M. Int. J. Oncol. (2001) [Pubmed]
  21. Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin. Chan, N.L., Bourdeau, A., Vera, S., Abdalla, S., Gross, M., Wong, J., Cymerman, U., Paterson, A.D., Mullen, B., Letarte, M. Placenta (2004) [Pubmed]
  22. Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily. Barbara, N.P., Wrana, J.L., Letarte, M. J. Biol. Chem. (1999) [Pubmed]
  23. TGF-{beta} signaling of human T cells is modulated by the ancillary TGF-{beta} receptor endoglin. Schmidt-Weber, C.B., Letarte, M., Kunzmann, S., Rückert, B., Bernabéu, C., Blaser, K. Int. Immunol. (2005) [Pubmed]
  24. Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia. Lastella, P., Sabbà, C., Lenato, G.M., Resta, N., Lattanzi, W., Gallitelli, M., Cirulli, A., Guanti, G. Clin. Genet. (2003) [Pubmed]
  25. Safety and efficacy of Implanon, a single-rod implantable contraceptive containing etonogestrel. Funk, S., Miller, M.M., Mishell, D.R., Archer, D.F., Poindexter, A., Schmidt, J., Zampaglione, E. Contraception. (2005) [Pubmed]
  26. Progestins and oral contraceptive-induced lipoprotein changes: a prospective study. Lipson, A., Stoy, D.B., LaRosa, J.C., Muesing, R.A., Cleary, P.A., Miller, V.T., Gilbert, P.R., Stadel, B. Contraception. (1986) [Pubmed]
  27. TNF alpha down-regulates CD105 expression in vascular endothelial cells: a comparative study with TGF beta 1. Li, C., Guo, B., Ding, S., Rius, C., Langa, C., Kumar, P., Bernabeu, C., Kumar, S. Anticancer Res. (2003) [Pubmed]
  28. CD105 (endoglin) expression on hematopoietic stem/progenitor cells. Pierelli, L., Bonanno, G., Rutella, S., Marone, M., Scambia, G., Leone, G. Leuk. Lymphoma (2001) [Pubmed]
  29. A Comparative Study of Neovascularisation in Atherosclerotic Plaques Using CD31, CD105 and TGFbeta(1). Li, C., Mollahan, P., Baguneid, M.S., McMahon, R.F., Kumar, P., Walker, M.G., Freemont, A.J., Kumar, S. Pathobiology (2006) [Pubmed]
  30. A subpopulation of large granular von Willebrand Ag negative and CD105 positive endothelial cells, isolated from abdominal aortic aneurysms, overexpress ICAM-1 and Fas antigen. Páez, A., Archundia, A., Méndez Cruz, R., Rodríguez, E., López Marure, R., Masso, F., Aceves, J.L., Flores, L., Montaño, L.F. Archivos de cardiología de México. (2002) [Pubmed]
  31. Endoglin inhibits prostate cancer motility via activation of the ALK2-Smad1 pathway. Craft, C.S., Romero, D., Vary, C.P., Bergan, R.C. Oncogene (2007) [Pubmed]
  32. Severe intrauterine growth restriction pregnancies have increased placental endoglin levels: hypoxic regulation via transforming growth factor-beta 3. Yinon, Y., Nevo, O., Xu, J., Many, A., Rolfo, A., Todros, T., Post, M., Caniggia, I. Am. J. Pathol. (2008) [Pubmed]
  33. Human peritoneal adhesions show evidence of tissue remodeling and markers of angiogenesis. Epstein, J.C., Wilson, M.S., Wilkosz, S., Ireland, G., O'dwyer, S.T., Herrick, S.E. Dis. Colon Rectum (2006) [Pubmed]
  34. Familial predisposition to tufted angioma: identification of blood and lymphatic vascular components. Tille, J.C., Morris, M.A., Bründler, M.A., Pepper, M.S. Clin. Genet. (2003) [Pubmed]
  35. Human umbilical cord matrix stem cells: preliminary characterization and effect of transplantation in a rodent model of Parkinson's disease. Weiss, M.L., Medicetty, S., Bledsoe, A.R., Rachakatla, R.S., Choi, M., Merchav, S., Luo, Y., Rao, M.S., Velagaleti, G., Troyer, D. Stem Cells (2006) [Pubmed]
  36. Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Abdalla, S.A., Pece-Barbara, N., Vera, S., Tapia, E., Paez, E., Bernabeu, C., Letarte, M. Hum. Mol. Genet. (2000) [Pubmed]
  37. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Shovlin, C.L., Hughes, J.M., Scott, J., Seidman, C.E., Seidman, J.G. Am. J. Hum. Genet. (1997) [Pubmed]
  38. Relationship between expression of CD105 and growth factors in malignant tumors of gastrointestinal tract and its significance. Yu, J.X., Zhang, X.T., Liao, Y.Q., Zhang, Q.Y., Chen, H., Lin, M., Kumar, S. World J. Gastroenterol. (2003) [Pubmed]
  39. Tumor origin of endothelial cells in human neuroblastoma. Pezzolo, A., Parodi, F., Corrias, M.V., Cinti, R., Gambini, C., Pistoia, V. J. Clin. Oncol. (2007) [Pubmed]
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