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Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_000358 Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA. Full Lenth $813.45
ORF Sequence $595.08


RefSeq Version NM_000358.2, 170650698
Length 2805 bp
Structure linear
Update Date 17-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.
Product transforming growth factor-beta-induced protein ig-h3 precursor
Comment

Summary: 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 in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq].

RefSeq NP_000349.1
CDS 162..2213
Exon (1)1..295
Exon (2)1..295
Exon (3)296..394
Exon (4)395..459
Exon (5)460..620
Exon (6)621..785
Exon (7)786..932
Exon (8)933..1074
Exon (9)1075..1287
Exon (10)1288..1425
Exon (11)1426..1571
Exon (12)1572..1708
Exon (13)1709..1839
Exon (14)1840..1964
Exon (15)1965..2067
Exon (16)2068..2147
Exon (17)2148..2172
Exon (18)2173..2805
Translation MALFVRLLALALALALGPAATLAGPAKSPYQLVLQHSRLRGRQHGPNVCAVQKVIGTNRK YFTNCKQWYQRKICGKSTVISYECCPGYEKVPGEKGCPAALPLSNLYETLGVVGSTTTQL YTDRTEKLRPEMEGPGSFTIFAPSNEAWASLPAEVLDSLVSNVNIELLNALRYHMVGRRV LTDELKHGMTLTSMYQNSNIQIHHYPNGIVTVNCARLLKADHHATNGVVHLIDKVISTIT NNIQQIIEIEDTFETLRAAVAASGLNTMLEGNGQYTLLAPTNEAFEKIPSETLNRILGDP EALRDLLNNHILKSAMCAEAIVAGLSVETLEGTTLEVGCSGDMLTINGKAIISNKDILAT NGVIHYIDELLIPDSAKTLFELAAESDVSTAIDLFRQAGLGNHLSGSERLTLLAPLNSVF KDGTPPIDAHTRNLLRNHIIKDQLASKYLYHGQTLETLGGKKLRVFVYRNSLCIENSCIA AHDKRGRYGTLFTMDRVLTPPMGTVMDVLKGDNRFSMLVAAIQSAGLTETLNREGVYTVF APTNEAFRALPPRERSRLLGDAKELANILKYHIGDEILVSGGIGALVRLKSLQGDKLEVS LKNNVVSVNKEPVAEPDIMATNGVVHVITNVLQPPANRPQERGDELADSALEIFKQASAF SRASQRSVRLAPVYQKLLERMKH
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Position Chain Variation Link
261+c, tdbSNP:6866553
317+a, gdbSNP:56099530
531+c, tdbSNP:121909210
532+a, gdbSNP:121909211
532+g, tdbSNP:121909213
607+c, tdbSNP:76212104
621+, largedeletiondbSNP:71795448
759+a, tdbSNP:45455404
782+g, tdbSNP:75246520
complement(812)-g, cdbSNP:1442
884+c, tdbSNP:113538354
906+a, gdbSNP:11543192
974+c, tdbSNP:17849888
976+a, cdbSNP:79545800
complement(977)-g, adbSNP:34334509
1142+a, gdbSNP:1054124
complement(1188)-t, cdbSNP:35920018
1269+c, tdbSNP:11543191
1287+, largedeletiondbSNP:71783705
1424..1425+, largedeletiondbSNP:71808153
1577+c, tdbSNP:1133170
1647+c, gdbSNP:10057190
1648+a, gdbSNP:114295767
1662+a, cdbSNP:121909212
1687+g, tdbSNP:121909216
1702+a, gdbSNP:73296968
1780+c, tdbSNP:121909214
1781+c, tdbSNP:4669
1824+c, tdbSNP:121909208
1825+a, gdbSNP:121909209
complement(1910)-g, adbSNP:35909506
complement(1964)-t, cdbSNP:35151677
2029+a, gdbSNP:121909215
2039+c, tdbSNP:45563337
2138+a, gdbSNP:79829394
2142..2143+, tdbSNP:34975207
2159+c, gdbSNP:121909217
2420+g, tdbSNP:79570767
2480+c, g, tdbSNP:17169782
2484+a, cdbSNP:1804507
2624+a, gdbSNP:79256310
2671+a, gdbSNP:7854
2698+c, tdbSNP:14813
complement(2750)-c, adbSNP:4572
2760+a, tdbSNP:79114801
Gene SymbolTGFBI
Gene SynonymBIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Chromosome5
Locus Map5q31
All Transcripts NM_000358
Title Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp .
Author Runager,K., Basaiawmoit,R.V., Deva,T., Andreasen,M., Valnickova,Z., Sorensen,C.S., Karring,H., Thogersen,I.B., Christiansen,G., Underhaug,J., Kristensen,T., Nielsen,N.C., Klintworth,G.K., Otzen,D.E. and Enghild,J.J.
Journal J. Biol. Chem. 286 (7), 4951-4958 (2011)
Title Case of lattice corneal dystrophy due to L527R mutation in the .
Author Ohnishi,T., Sakimoto,T. and Sawa,M.
Journal Jpn. J. Ophthalmol. 54 (6), 628-629 (2010)
Title [Founder effect of two families with TGFBI related Thiel-Behnke corneal dystrophy] .
Author Qin,X.J., Guo,Y.Y., Yan,S., Li,L.T., Liu,H.C. and Zhao,B.G.
Journal Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27 (5), 489-492 (2010)
Title TL1A induces the expression of TGF-beta-inducible gene h3 (betaig-h3) through PKC, PI3K, and ERK in THP-1 cells .
Author Lee,S.H., Kim,E.J., Suk,K., Kim,I.S. and Lee,W.H.
Journal Cell. Immunol. 266 (1), 61-66 (2010)
Title Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3) .
Author Romero,P., Moraga,M. and Herrera,L.
Journal Mol. Vis. 16, 1601-1609 (2010)
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 .
Author LeBaron,R.G., Bezverkov,K.I., Zimber,M.P., Pavelec,R., Skonier,J. and Purchio,A.F.
Journal J. Invest. Dermatol. 104 (5), 844-849 (1995)
Title cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium .
Author Escribano,J., Hernando,N., Ghosh,S., Crabb,J. and Coca-Prados,M.
Journal J. Cell. Physiol. 160 (3), 511-521 (1994)
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 .
Author Skonier,J., Bennett,K., Rothwell,V., Kosowski,S., Plowman,G., Wallace,P., Edelhoff,S., Disteche,C., Neubauer,M., Marquardt,H. et al.
Journal DNA Cell Biol. 13 (6), 571-584 (1994)
Title Three autosomal dominant corneal dystrophies map to chromosome 5q .
Author Stone,E.M., Mathers,W.D., Rosenwasser,G.O., Holland,E.J., Folberg,R., Krachmer,J.H., Nichols,B.E., Gorevic,P.D., Taylor,C.M., Streb,L.M. et al.
Journal Nat. Genet. 6 (1), 47-51 (1994)
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 .
Author Skonier,J., Neubauer,M., Madisen,L., Bennett,K., Plowman,G.D. and Purchio,A.F.
Journal DNA Cell Biol. 11 (7), 511-522 (1992)

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