TGFBI

TGFBI
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1X3B, 2LTB, 2LTC, 2VXP
Identifiers
Aliases	TGFBI , BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1, transforming growth factor beta induced
External IDs	OMIM: 601692 MGI: 99959 HomoloGene: 37294 GeneCards: TGFBI
Gene location (Human) Chr. Chromosome 5 (human) [1] Band 5q31.1 Start 136,028,988 bp [1] End 136,063,818 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13 B1|13 30.09 cM Start 56,609,523 bp [2] End 56,639,562 bp [2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • integrin binding • GO:0001948 protein binding • collagen binding • extracellular matrix binding • extracellular matrix structural constituent • cell adhesion molecule binding Cellular component • GO:0005578 extracellular matrix • basement membrane • trans-Golgi network • plasma membrane • extracellular exosome • extracellular space • extracellular region • collagen-containing extracellular matrix Biological process • cellular protein metabolic process • negative regulation of cell adhesion • cell population proliferation • chondrocyte differentiation • angiogenesis • response to stimulus • visual perception • cell adhesion • extracellular matrix organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	7045	21810
Ensembl	ENSG00000120708	ENSMUSG00000035493
UniProt	Q15582	P82198
RefSeq (mRNA)	NM_000358	NM_009369
RefSeq (protein)	NP_000349	NP_033395
Location (UCSC)	Chr 5: 136.03 – 136.06 Mb	Chr 13: 56.61 – 56.64 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. ^{[5] [6]}

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. ^[5]

Clinical significance

Mutations of the gene cause several forms of corneal dystrophies. ^{[7] [8]}

Reis-Bücklers corneal dystrophy. Light microscopy of cornea showing characteristic red stained deposits of mutated TGFBI protein in the superficial corneal stroma. Masson's trichrome stain.

References

1. GRCh38: Ensembl release 89: ENSG00000120708 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035493 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: TGFBI transforming growth factor, beta-induced, 68kDa".
6. Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, Schorderet DF (March 1997). "Kerato-epithelin mutations in four 5q31-linked corneal dystrophies". Nat. Genet. 15 (3): 247–51. doi:10.1038/ng0397-247. PMID   9054935. S2CID   19284412.
7. 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 (February 1998). "Mutation hot spots in 5q31-linked corneal dystrophies". Am. J. Hum. Genet. 62 (2): 320–4. doi:10.1086/301720. PMC   1376896 . PMID   9463327.
8. Klintworth GK (2009). "Corneal dystrophies". Orphanet J Rare Dis. 4 (1): 7. doi:10.1186/1750-1172-4-7. PMC   2695576 . PMID   19236704.

Further reading

• Fujiki K, Nakayasu K, Kanai A (2001). "Corneal dystrophies in Japan". J. Hum. Genet. 46 (8): 431–5. doi: 10.1007/s100380170041 . 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. doi:10.1016/S0181-5512(04)96173-6. 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. S2CID   9671230.
• 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. doi:10.1089/dna.1992.11.511. 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. doi:10.1111/1523-1747.ep12607024. 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. doi:10.1089/dna.1994.13.571. 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. S2CID   21442005.
• 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. doi:10.1016/0378-1119(94)90802-8. 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. S2CID   44641005.
• 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. S2CID   19284412.
• 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. doi:10.1016/S0167-4889(96)00147-4. 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. doi:10.1016/S0378-1119(97)00411-3. 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. doi:10.1086/301720. PMC   1376896 . 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. doi:10.1086/301765. PMC   1376959 . 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. doi:10.1016/S0002-9394(98)00075-0. 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. doi:10.1016/S0002-9394(98)00135-4. 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. doi:10.1007/s004390050818. PMID   9799082. S2CID   23721847.
• 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.
• Page L, Polok B, Bustamante M, Schorderet DF (2013). "Bigh3 is upregulated in regenerating zebrafish fin". Zebrafish. 10 (3): 36–42. doi:10.1089/zeb.2012.0759. PMID   23536989.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.