TGFBI

From Wikipedia, the free encyclopedia

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

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

Fujiki K, Nakayasu K, Kanai A (2001). "Corneal dystrophies in Japan.". J. Hum. Genet. 46 (8): 431–5. PMID 11501939.
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.
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.
Skonier J, Neubauer M, Madisen L, et al. (1992). "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.". DNA Cell Biol. 11 (7): 511–22. PMID 1388724.
LeBaron RG, Bezverkov KI, Zimber MP, et al. (1995). "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.". J. Invest. Dermatol. 104 (5): 844–9. PMID 7738366.
Skonier J, Bennett K, Rothwell V, et al. (1994). "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.". DNA Cell Biol. 13 (6): 571–84. PMID 8024701.
Escribano J, Hernando N, Ghosh S, et al. (1994). "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 (3): 511–21. doi:10.1002/jcp.1041600314. PMID 8077289.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
Stone EM, Mathers WD, Rosenwasser GO, et al. (1994). "Three autosomal dominant corneal dystrophies map to chromosome 5q.". Nat. Genet. 6 (1): 47–51. doi:10.1038/ng0194-47. PMID 8136834.
Munier FL, Korvatska E, Djemaï A, et al. (1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.". Nat. Genet. 15 (3): 247–51. doi:10.1038/ng0397-247. PMID 9054935.
Hashimoto K, Noshiro M, Ohno S, et al. (1997). "Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/beta ig-h3) that binds to collagen.". Biochim. Biophys. Acta 1355 (3): 303–14. PMID 9061001.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
Korvatska E, Munier FL, Djemaï A, et al. (1998). "Mutation hot spots in 5q31-linked corneal dystrophies.". Am. J. Hum. Genet. 62 (2): 320–4. PMID 9463327.
Yamamoto S, Okada M, Tsujikawa M, et al. (1998). "A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.". Am. J. Hum. Genet. 62 (3): 719–22. PMID 9497262.
Okada M, Yamamoto S, Watanabe H, et al. (1998). "Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.". Am. J. Ophthalmol. 126 (2): 169–76. PMID 9727509.
Okada M, Yamamoto S, Tsujikawa M, et al. (1998). "Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy.". Am. J. Ophthalmol. 126 (4): 535–42. PMID 9780098.
Fujiki K, Hotta Y, Nakayasu K, et al. (1998). "A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities.". Hum. Genet. 103 (3): 286–9. PMID 9799082.
Stewart H, Black GC, Donnai D, et al. (1999). "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 (5): 964–70. doi:10.1016/S0161-6420(99)00539-4. PMID 10328397.
Stewart HS, Ridgway AE, Dixon MJ, et al. (1999). "Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.". Hum. Mutat. 14 (2): 126–32. doi:10.1002/(SICI)1098-1004(1999)14:2<126::AID-HUMU4>3.0.CO;2-W. PMID 10425035.
Rozzo C, Fossarello M, Galleri G, et al. (2000). "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.". Hum. Mutat. 12 (3): 215–6. PMID 10660331.