TGFBI
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which in humans is encoded by the TGFBI gene, locus 5q31.{{cite web | title = Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7045}}{{cite journal | vauthors = Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF | title = Kerato-epithelin mutations in four 5q31-linked corneal dystrophies | journal = Nat. Genet. | volume = 15 | issue = 3 | pages = 247–51 |date=March 1997 | pmid = 9054935 | doi = 10.1038/ng0397-247 | s2cid = 19284412 }}
Function
This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion.
Clinical significance
Mutations of the gene cause several forms of corneal dystrophies.{{cite journal | vauthors = Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF | title = Mutation hot spots in 5q31-linked corneal dystrophies | journal = Am. J. Hum. Genet. | volume = 62 | issue = 2 | pages = 320–4 |date=February 1998 | pmid = 9463327 | pmc = 1376896 | doi = 10.1086/301720 }}{{cite journal | author = Klintworth GK | title = Corneal dystrophies | journal = Orphanet J Rare Dis | volume = 4 | issue = 1| pages = 7 | year = 2009 | pmid = 19236704 | pmc = 2695576 | doi = 10.1186/1750-1172-4-7 | doi-access = free }}
File:Mutated transforming growth factor beta induced protein in the superficial corneal stroma.jpg. Light microscopy of cornea showing characteristic red stained deposits of mutated TGFBI protein in the superficial corneal stroma. Masson's trichrome stain.]]
References
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Further reading
{{refbegin | 2}}
- {{cite journal | vauthors=Fujiki K, Nakayasu K, Kanai A |title=Corneal dystrophies in Japan. |journal=J. Hum. Genet. |volume=46 |issue= 8 |pages= 431–5 |year= 2001 |pmid= 11501939 |doi=10.1007/s100380170041 |doi-access=free }}
- {{cite journal | vauthors=Schmitt-Bernard CF, Pouliquen Y, Argilès A |title=[BIG-H3 protein: mutation of codon 124 and corneal amyloidosis] |journal=Journal français d'ophtalmologie |volume=27 |issue= 5 |pages= 510–22 |year= 2004 |pmid= 15179309 |doi=10.1016/S0181-5512(04)96173-6 }}
- {{cite journal | vauthors=Pieramici SF, Afshari NA |title=Genetics of corneal dystrophies: the evolving landscape. |journal=Current Opinion in Ophthalmology |volume=17 |issue= 4 |pages= 361–6 |year= 2006 |pmid= 16900028 |doi= 10.1097/01.icu.0000233955.94347.84 |s2cid=9671230 }}
- {{cite journal |vauthors=Skonier J, Neubauer M, Madisen L, etal |title=cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta. |journal=DNA Cell Biol. |volume=11 |issue= 7 |pages= 511–22 |year= 1992 |pmid= 1388724 |doi=10.1089/dna.1992.11.511 }}
- {{cite journal |vauthors=LeBaron RG, Bezverkov KI, Zimber MP, etal |title=Beta IG-H3, a novel secretory protein inducible by transforming growth factor-beta, is present in normal skin and promotes the adhesion and spreading of dermal fibroblasts in vitro. |journal=J. Invest. Dermatol. |volume=104 |issue= 5 |pages= 844–9 |year= 1995 |pmid= 7738366 |doi=10.1111/1523-1747.ep12607024 |doi-access=free }}
- {{cite journal |vauthors=Skonier J, Bennett K, Rothwell V, etal |title=beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice. |journal=DNA Cell Biol. |volume=13 |issue= 6 |pages= 571–84 |year= 1994 |pmid= 8024701 |doi=10.1089/dna.1994.13.571 }}
- {{cite journal |vauthors=Escribano J, Hernando N, Ghosh S, etal |title=cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. |journal=J. Cell. Physiol. |volume=160 |issue= 3 |pages= 511–21 |year= 1994 |pmid= 8077289 |doi= 10.1002/jcp.1041600314 |s2cid=21442005 }}
- {{cite journal | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
- {{cite journal |vauthors=Stone EM, Mathers WD, Rosenwasser GO, etal |title=Three autosomal dominant corneal dystrophies map to chromosome 5q. |journal=Nat. Genet. |volume=6 |issue= 1 |pages= 47–51 |year= 1994 |pmid= 8136834 |doi= 10.1038/ng0194-47 |s2cid=44641005 }}
- {{cite journal |vauthors=Munier FL, Korvatska E, Djemaï A, etal |title=Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. |journal=Nat. Genet. |volume=15 |issue= 3 |pages= 247–51 |year= 1997 |pmid= 9054935 |doi= 10.1038/ng0397-247 |s2cid=19284412 }}
- {{cite journal |vauthors=Hashimoto K, Noshiro M, Ohno S, etal |title=Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen. |journal=Biochim. Biophys. Acta |volume=1355 |issue= 3 |pages= 303–14 |year= 1997 |pmid= 9061001 |doi=10.1016/S0167-4889(96)00147-4 |doi-access= }}
- {{cite journal |vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, etal |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 }}
- {{cite journal |vauthors=Korvatska E, Munier FL, Djemaï A, etal |title=Mutation hot spots in 5q31-linked corneal dystrophies. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 320–4 |year= 1998 |pmid= 9463327 |doi=10.1086/301720 | pmc=1376896 }}
- {{cite journal |vauthors=Yamamoto S, Okada M, Tsujikawa M, etal |title=A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 719–22 |year= 1998 |pmid= 9497262 |doi=10.1086/301765 | pmc=1376959 }}
- {{cite journal |vauthors=Okada M, Yamamoto S, Watanabe H, etal |title=Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene. |journal=Am. J. Ophthalmol. |volume=126 |issue= 2 |pages= 169–76 |year= 1998 |pmid= 9727509 |doi=10.1016/S0002-9394(98)00075-0 }}
- {{cite journal |vauthors=Okada M, Yamamoto S, Tsujikawa M, etal |title=Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy. |journal=Am. J. Ophthalmol. |volume=126 |issue= 4 |pages= 535–42 |year= 1998 |pmid= 9780098 |doi=10.1016/S0002-9394(98)00135-4 }}
- {{cite journal |vauthors=Fujiki K, Hotta Y, Nakayasu K, etal |title=A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. |journal=Hum. Genet. |volume=103 |issue= 3 |pages= 286–9 |year= 1998 |pmid= 9799082 |doi=10.1007/s004390050818 |s2cid=23721847 }}
- {{cite journal |vauthors=Stewart H, Black GC, Donnai D, etal |title=A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy. |journal=Ophthalmology |volume=106 |issue= 5 |pages= 964–70 |year= 1999 |pmid= 10328397 |doi= 10.1016/S0161-6420(99)00539-4 }}
- {{cite journal |vauthors=Stewart HS, Ridgway AE, Dixon MJ, etal |title=Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. |journal=Hum. Mutat. |volume=14 |issue= 2 |pages= 126–32 |year= 1999 |pmid= 10425035 |doi= 10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W |s2cid=30001550 }}
- {{cite journal |vauthors=Rozzo C, Fossarello M, Galleri G, etal |title=A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online. |journal=Hum. Mutat. |volume=12 |issue= 3 |pages= 215–6 |year= 2000 |pmid= 10660331 }}
- {{cite journal | vauthors=Page L, Polok B, Bustamante M, Schorderet DF |title=Bigh3 is upregulated in regenerating zebrafish fin |journal=Zebrafish |volume=10 |issue= 3 |pages= 36–42 |year= 2013 |doi=10.1089/zeb.2012.0759 |pmid=23536989 }}
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{{PDB Gallery|geneid=7045}}
{{NLM content}}
Category:Extracellular matrix proteins
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