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Gene Review

TGFBI  -  transforming growth factor, beta-induced,...

Homo sapiens

Synonyms: BIGH3, Beta ig-h3, CDB1, CDG2, CDGG1, ...
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Disease relevance of TGFBI

  • betaig-h3 (TGFBI, keratoepithelin) was first identified as a transforming growth factor-beta1 (TGF-beta1)-inducible gene in a human lung adenocarcinoma cell line [1].
  • CONCLUSIONS: Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis [2].
  • CONCLUSIONS: We concluded that the TGFBI gene is not responsible for causing keratoconus in these patients [3].
  • TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine [4].
  • These results document the expression of beta ig-h3 in diseased human arterial tissue and support the hypothesis that active TGF-beta plays a role in atherogenesis and restenosis [5].

Psychiatry related information on TGFBI

  • CSD/BEM localization of P300 sources in adolescents "at-risk": evidence of frontal cortex dysfunction in conduct disorder [6].
  • These results indicate that CSD has aversive as well as amnesic properties, there exists a gradient of amnesia, dependent on concentration, and that the cortex is not necessary for learning a taste aversion [7].

High impact information on TGFBI

  • This suggests, as the last two diseases are characterized by amyloid deposits, that R124 mutated kerato-epithelin (the product of beta ig-h3) forms amyloidogenic intermediates that precipitate in the cornea [8].
  • Granular dystrophy Groenouw type I (CDGG1), Reis-Bücklers (CDRB), lattice type I (CDL1) and Avellino (ACD) are four 5q31-linked human autosomal dominant corneal dystrophies [8].
  • In this issue of Neuron, van den Maagdenberg et al. characterize a mouse with a knockin mutation known to cause familial hemiplegic migraine and provide evidence that a lowered threshold to the triggering of CSD may account for the devastating phenotype of familial hemiplegic migraine [9].
  • Our data show that the increased susceptibility for CSD and aura in migraine may be due to cortical hyperexcitability [10].
  • A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA [11].

Chemical compound and disease context of TGFBI


Biological context of TGFBI

  • In reciprocal blocking experiments both proteoglycans inhibited the others binding to beta ig-h3 indicating that they may share the same binding site or that the two binding sites are in close proximity on the beta ig-h3 molecule [14].
  • Lastly, it was observed that beta ig-h3-mediated keratinocyte differentiation was caused by promotion of cell adhesion and not by calcium regulation [15].
  • Subsequent analysis revealed not only induction of Akt phosphorylation by recombinant beta ig-h3 but also blockage of Akt phosphorylation by LY294002, an inhibitor of phosphatidylinositol 3-kinase [15].
  • Six autosomal dominant corneal dystrophies are caused by mutations in the TGFBI (BIGH3) gene on chromosome 5q31: three types of lattice corneal dystrophy (LCD), including type I and type IIIA, granular, Avellino (ACD), and Reis-Bucklers [16].
  • We analysed the TGFBI gene by SSCP analysis and direct sequencing in order to further assess the genotype-phenotype correlation [16].

Anatomical context of TGFBI


Associations of TGFBI with chemical compounds


Physical interactions of TGFBI

  • Biglycan core protein was shown to inhibit the extent of complexing of beta ig-h3 with native and pepsin-collagen VI suggesting that the glycosaminoglycan side chains of the proteoglycan were important for the formation of the large ternary complexes [14].

Regulatory relationships of TGFBI


Other interactions of TGFBI


Analytical, diagnostic and therapeutic context of TGFBI


  1. Induction and expression of betaig-h3 in pancreatic cancer cells. Schneider, D., Kleeff, J., Berberat, P.O., Zhu, Z., Korc, M., Friess, H., Büchler, M.W. Biochim. Biophys. Acta (2002) [Pubmed]
  2. Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. Klintworth, G.K., Bao, W., Afshari, N.A. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  3. Keratoconus--no association with the transforming growth factor beta-induced gene in a cohort of American patients. Udar, N., Kenney, M.C., Chalukya, M., Anderson, T., Morales, L., Brown, D., Nesburn, A., Small, K. Cornea (2004) [Pubmed]
  4. TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. Pampukha, V.M., Drozhyna, G.I., Livshits, L.A. Ophthalmologica (2004) [Pubmed]
  5. Beta ig-h3, a transforming growth factor-beta-inducible gene, is overexpressed in atherosclerotic and restenotic human vascular lesions. O'Brien, E.R., Bennett, K.L., Garvin, M.R., Zderic, T.W., Hinohara, T., Simpson, J.B., Kimura, T., Nobuyoshi, M., Mizgala, H., Purchio, A., Schwartz, S.M. Arterioscler. Thromb. Vasc. Biol. (1996) [Pubmed]
  6. CSD/BEM localization of P300 sources in adolescents "at-risk": evidence of frontal cortex dysfunction in conduct disorder. Bauer, L.O., Hesselbrock, V.M. Biol. Psychiatry (2001) [Pubmed]
  7. Learned taste aversion induced by cortical spreading depression. Winn, F.J., Kent, M.A., Libkuman, T.M. Physiol. Behav. (1975) [Pubmed]
  8. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Munier, F.L., Korvatska, E., Djemaï, A., Le Paslier, D., Zografos, L., Pescia, G., Schorderet, D.F. Nat. Genet. (1997) [Pubmed]
  9. Migraine aura: a knockin mouse with a knockout message. Goadsby, P.J. Neuron (2004) [Pubmed]
  10. A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression. van den Maagdenberg, A.M., Pietrobon, D., Pizzorusso, T., Kaja, S., Broos, L.A., Cesetti, T., van de Ven, R.C., Tottene, A., van der Kaa, J., Plomp, J.J., Frants, R.R., Ferrari, M.D. Neuron (2004) [Pubmed]
  11. A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. Yamamoto, S., Okada, M., Tsujikawa, M., Shimomura, Y., Nishida, K., Inoue, Y., Watanabe, H., Maeda, N., Kurahashi, H., Kinoshita, S., Nakamura, Y., Tano, Y. Am. J. Hum. Genet. (1998) [Pubmed]
  12. TGF-beta-induced protein beta ig-h3 is upregulated by high glucose in vascular smooth muscle cells. Ha, S.W., Bae, J.S., Yeo, H.J., Lee, S.H., Choi, J.Y., Sohn, Y.K., Kim, J.G., Kim, I.S., Kim, B.W. J. Cell. Biochem. (2003) [Pubmed]
  13. cDNA array analysis of SPARC-modulated changes in glioma gene expression. Golembieski, W.A., Rempel, S.A. J. Neurooncol. (2002) [Pubmed]
  14. Beta ig-h3 interacts directly with biglycan and decorin, promotes collagen VI aggregation, and participates in ternary complexing with these macromolecules. Reinboth, B., Thomas, J., Hanssen, E., Gibson, M.A. J. Biol. Chem. (2006) [Pubmed]
  15. Beta ig-h3 induces keratinocyte differentiation via modulation of involucrin and transglutaminase expression through the integrin alpha3beta1 and the phosphatidylinositol 3-kinase/Akt signaling pathway. Oh, J.E., Kook, J.K., Min, B.M. J. Biol. Chem. (2005) [Pubmed]
  16. Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. Stewart, H.S., Ridgway, A.E., Dixon, M.J., Bonshek, R., Parveen, R., Black, G. Hum. Mutat. (1999) [Pubmed]
  17. Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene. Dighiero, P., Niel, F., Ellies, P., D'Hermies, F., Savoldelli, M., Renard, G., Delpech, M., Valleix, S. Ophthalmology (2001) [Pubmed]
  18. A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. Warren, J.F., Abbott, R.L., Yoon, M.K., Crawford, J.B., Spencer, W.H., Margolis, T.P. Am. J. Ophthalmol. (2003) [Pubmed]
  19. Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. Stix, B., Leber, M., Bingemer, P., Gross, C., Rüschoff, J., Fändrich, M., Schorderet, D.F., Vorwerk, C.K., Zacharias, M., Roessner, A., Röcken, C. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  20. Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene. Eifrig, D.E., Afshari, N.A., Buchanan, H.W., Bowling, B.L., Klintworth, G.K. Ophthalmology (2004) [Pubmed]
  21. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. Hirano, K., Hotta, Y., Nakamura, M., Fujiki, K., Kanai, A., Yamamoto, N. Cornea (2001) [Pubmed]
  22. BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro. Schmitt-Bernard, C.F., Chavanieu, A., Herrada, G., Subra, G., Arnaud, B., Demaille, J.G., Calas, B., Argilés, A. Eur. J. Biochem. (2002) [Pubmed]
  23. RGD peptides released from beta ig-h3, a TGF-beta-induced cell-adhesive molecule, mediate apoptosis. Kim, J.E., Kim, S.J., Jeong, H.W., Lee, B.H., Choi, J.Y., Park, R.W., Park, J.Y., Kim, I.S. Oncogene (2003) [Pubmed]
  24. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. Chakravarthi, S.V., Kannabiran, C., Sridhar, M.S., Vemuganti, G.K. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  25. TGFBI gene transcript is transforming growth factor-beta1-responsive and cell density-dependent in a human corneal epithelial cell line. Wang, M., Munier, F., Araki-Saski, K., Schorderet, D. Ophthalmic Genet. (2002) [Pubmed]
  26. Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene. Schorderet, D.F., Menasche, M., Morand, S., Bonnel, S., Büchillier, V., Marchant, D., Auderset, K., Bonny, C., Abitbol, M., Munier, F.L. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
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