Transforming Growth Factor Beta Induced Protein (TGFbI)

TGF-BI; CSD3; LCD1; CSD1; CSD2; BIGH3; CDB1; CDGG1; RGD-CAP; Kerato-Epithelin; RGD-Containing Collagen-Associated Protein

SPN	T816
HGNC	11771
MGI	99959
PubMed	16683255
RGD	TGFBI
UniProt	Q15582
Wiki	TGFBI

Transforming growth factor, beta-induced, 68kDa, also known as TGFBI (initially called BIGH3, BIG-H3), is a protein which is encoded by the TGFBI gene.

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. Mutations of the gene cause several forms of corneal dystrophies.

Reference

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DNA Cell Biol. 11:511-522(1992) [PubMed] [Europe PMC] [Abstract]

"Kerato-epithelin mutations in four 5q31-linked corneal dystrophies."
Nat. Genet. 15:247-251(1997) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and comparative analysis of human chromosome 5."
Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium."
J. Cell. Physiol. 160:511-521(1994) [PubMed] [Europe PMC] [Abstract]

"Corneal dystrophies in Japan."
J. Hum. Genet. 46:431-435(2001) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Solution structure of the FAS1 domain of human transforming growth factor-beta induced protein IG-H3."
Submitted (JAN-2006) to the PDB data bank

"Mutation hot spots in 5q31-linked corneal dystrophies."
Am. J. Hum. Genet. 62:320-324(1998) [PubMed] [Europe PMC] [Abstract]

"A kerato-epithelin (beta-ig-h3) mutation in lattice corneal dystrophy type IIIA."
Am. J. Hum. Genet. 62:719-722(1998) [PubMed] [Europe PMC] [Abstract]

"Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy."
Am. J. Ophthalmol. 126:535-542(1998) [PubMed] [Europe PMC] [Abstract]

"A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities."
Hum. Genet. 103:286-289(1998) [PubMed] [Europe PMC] [Abstract]

"A common beta ig-h3 gene mutation (delta F540) in a large cohort of Sardinian Reis Buecklers' corneal dystrophy patients."
Hum. Mutat. 12:215-216(1998) [PubMed] [Europe PMC] [Abstract]

"Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis."
Hum. Mutat. 14:126-132(1999) [PubMed] [Europe PMC] [Abstract]

"A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy."
Ophthalmology 106:964-970(1999) [PubMed] [Europe PMC] [Abstract]

"Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan."
Am. J. Ophthalmol. 130:516-517(2000) [PubMed] [Europe PMC] [Abstract]

"A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and deltaT125-deltaE126."
Arch. Ophthalmol. 118:814-818(2000) [PubMed] [Europe PMC] [Abstract]

"Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene."
Br. J. Ophthalmol. 84:583-585(2000) [PubMed] [Europe PMC] [Abstract]

"Late-onset form of lattice corneal dystrophy caused by Leu527Arg mutation of the TGFBI gene."
Cornea 20:525-529(2001) [PubMed] [Europe PMC] [Abstract]

"Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene."
Ophthalmology 108:818-823(2001) [PubMed] [Europe PMC] [Abstract]

"BIGH3 mutation spectrum in corneal dystrophies."
Invest. Ophthalmol. Vis. Sci. 43:949-954(2002) [PubMed] [Europe PMC] [Abstract]

"A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I."
Am. J. Ophthalmol. 136:872-878(2003) [PubMed] [Europe PMC] [Abstract]

"A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy."
Jpn. J. Ophthalmol. 47:246-248(2003) [PubMed] [Europe PMC] [Abstract]

"Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene."
Am. J. Ophthalmol. 138:772-781(2004) [PubMed] [Europe PMC] [Abstract]

"TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients."
Invest. Ophthalmol. Vis. Sci. 46:121-125(2005) [PubMed] [Europe PMC] [Abstract]

"Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin."
Invest. Ophthalmol. Vis. Sci. 46:1133-1139(2005) [PubMed] [Europe PMC] [Abstract]

"Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I."
Jpn. J. Ophthalmol. 49:84-88(2005) [PubMed] [Europe PMC] [Abstract]

"A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3."
Hum. Mutat. 27:553-557(2006) [PubMed] [Europe PMC] [Abstract]

"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. 50:403-408(2006) [PubMed] [Europe PMC] [Abstract]

"Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene."
Mol. Vis. 12:142-146(2006) [PubMed] [Europe PMC] [Abstract]

"Expanding the mutational spectrum in TGFBI-linked corneal dystrophies: identification of a novel and unusual mutation (Val113Ile) in a family with granular dystrophy."
Mol. Vis. 12:331-335(2006) [PubMed] [Europe PMC] [Abstract]