User:JonSDSUGrad/Sandbox/Demo TGFBI

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Transforming growth factor, beta-induced, 68kDa

PDB rendering based on 1x3b.

Available structures: 1x3b

Identifiers

Symbol(s)

TGFBI; BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1

External IDs

OMIM: 601692 MGI: 99959 HomoloGene: 37294

Gene ontology
Molecular Function:	• integrin binding • protein binding
Cellular Component:	• proteinaceous extracellular matrix • extracellular space
Biological Process:	• cell adhesion • negative regulation of cell adhesion • visual perception • cell proliferation • response to stimulus

RNA expression pattern

Image:PBB GE TGFBI 1385 at tn.png

Image:PBB GE TGFBI 68339 at tn.png

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000358 (mRNA)
NP_000349 (protein)

NM_009369 (mRNA)
NP_033395 (protein)

Location

Chr 5: 135.39 - 135.43 Mb

Chr 13: 56.62 - 56.65 Mb

Pubmed search

[1]

[2]

Transforming growth factor, beta-induced, 68kDa, also known as TGFBI, is a human gene.^[1]

[edit] References

^ Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa.

[edit] Further reading

Pieramici SF, Afshari NA (2006). "Genetics of corneal dystrophies: the evolving landscape.". Current opinion in ophthalmology 17 (4): 361-6. doi:10.1097/01.icu.0000233955.94347.84. PMID 16900028.
Schmitt-Bernard CF, Pouliquen Y, Argilès A (2004). "[BIG-H3 protein: mutation of codon 124 and corneal amyloidosis]". Journal français d'ophtalmologie 27 (5): 510-22. PMID 15179309.
Fujiki K, Nakayasu K, Kanai A (2001). "Corneal dystrophies in Japan.". J. Hum. Genet. 46 (8): 431-5. PMID 11501939.
Becker J, Volland S, Noskova I, et al. (2008). "Keratoepithelin reverts the suppression of tissue factor pathway inhibitor 2 by MYCN in human neuroblastoma: a mechanism to inhibit invasion.". Int. J. Oncol. 32 (1): 235-40. PMID 18097563.
Ahmed AA, Mills AD, Ibrahim AE, et al. (2008). "The extracellular matrix protein TGFBI induces microtubule stabilization and sensitizes ovarian cancers to paclitaxel.". Cancer Cell 12 (6): 514-27. doi:10.1016/j.ccr.2007.11.014. PMID 18068629.
Takács L, Losonczy G, Matesz K, et al. (2007). "TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.". Mol. Vis. 13: 1976-83. PMID 17982422.
Kim JE, Han MS, Bae YC, et al. (2007). "Anterior segment dysgenesis after overexpression of transforming growth factor-beta-induced gene, beta igh3, in the mouse eye.". Mol. Vis. 13: 1942-52. PMID 17982418.
Zhao XC, Nakamura H, Subramanyam S, et al. (2007). "Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.". Ophthalmology 114 (11): e39-46. doi:10.1016/j.ophtha.2007.07.029. PMID 17980739.
Yoo JH, Kim E, Kim J, Cho HS (2007). "Crystallization and preliminary crystallographic analysis of the fourth FAS1 domain of human BigH3.". Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 63 (Pt 10): 893-5. doi:10.1107/S1744309107039358. PMID 17909299.
Correa-Gomez V, Villalvazo-Cordero L, Zenteno JC (2007). "The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy.". Mol. Vis. 13: 1695-700. PMID 17893671.
Kobayashi A, Fujiki K, Fujimaki T, et al. (2007). "In vivo laser confocal microscopic findings of corneal stromal dystrophies.". Arch. Ophthalmol. 125 (9): 1168-73. doi:10.1001/archopht.125.9.1168. PMID 17846354.
Tian X, Fujiki K, Zhang Y, et al. (2007). "A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene.". Am. J. Ophthalmol. 144 (3): 473-5. doi:10.1016/j.ajo.2007.04.015. PMID 17765440.
Karring H, Valnickova Z, Thøgersen IB, et al. (2007). "Evidence against a blood derived origin for transforming growth factor beta induced protein in corneal disorders caused by mutations in the TGFBI gene.". Mol. Vis. 13: 997-1004. PMID 17653042.
Baron C, Somogyi R, Greller LD, et al. (2007). "Prediction of graft-versus-host disease in humans by donor gene-expression profiling.". PLoS Med. 4 (1): e23. doi:10.1371/journal.pmed.0040023. PMID 17378698.
Tang J, Zhou HW, Jiang JL, et al. (2007). "BetaIg-h3 is involved in the HAb18G/CD147-mediated metastasis process in human hepatoma cells.". Exp. Biol. Med. (Maywood) 232 (3): 344-52. PMID 17327467.
Aldave AJ, Sonmez B, Forstot SL, et al. (2007). "A clinical and histopathologic examination of accelerated TGFBIp deposition after LASIK in combined granular-lattice corneal dystrophy.". Am. J. Ophthalmol. 143 (3): 416-9. doi:10.1016/j.ajo.2006.11.056. PMID 17317389.
Atchaneeyasakul LO, Appukuttan B, Pingsuthiwong S, et al. (2006). "A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.". Jpn. J. Ophthalmol. 50 (5): 403-8. doi:10.1007/s10384-006-0357-6. PMID 17013691.
Nam EJ, Sa KH, You DW, et al. (2006). "Up-regulated transforming growth factor beta-inducible gene h3 in rheumatoid arthritis mediates adhesion and migration of synoviocytes through alpha v beta3 integrin: Regulation by cytokines.". Arthritis Rheum. 54 (9): 2734-44. doi:10.1002/art.22076. PMID 16947382.
Kim CD, Cho YJ, Park SH, et al. (2006). "Urinary transforming growth factor-beta-induced gene-h3 (betaig-h3) as a sensitive predictor in chronic cyclosporine nephrotoxicity.". Transplant. Proc. 38 (5): 1314-9. doi:10.1016/j.transproceed.2006.02.070. PMID 16797290.