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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000358 Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_000358.2, 170650698
Length 2805 bp
Structure linear
Update Date 17-APR-2013
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, Jul 2008].

RefSeq NP_000349.1
CDS 162..2213
Misc Feature(1)132..134
Misc Feature(2)132..134
Misc Feature(3)294..437
Misc Feature(4)435..869
Misc Feature(5)558..869
Misc Feature(6)<918..1280
Misc Feature(7)918..1280
Misc Feature(8)1317..1661
Misc Feature(9)1626..2069
Misc Feature(10)1701..2063
Misc Feature(11)2085..2093
Exon (1)1..295
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (2)296..394
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (3)395..459
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (4)460..620
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (5)621..785
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (6)786..932
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (7)933..1074
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (8)1075..1287
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (9)1288..1425
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (10)1426..1571
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (11)1572..1708
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (12)1709..1839
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (13)1840..1964
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (14)1965..2067
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (15)2068..2147
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (16)2148..2172
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Exon (17)2173..2805
Gene:TGFBI
Gene Synonym:BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
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+dbSNP:
317+a, gdbSNP:56099530
483+dbSNP:
483+a, gdbSNP:188322933
531+a, c, tdbSNP:121909210
532+a, g, tdbSNP:121909211
554+g, tdbSNP:199604416
566+c, tdbSNP:180743451
607+c, tdbSNP:76212104
655+dbSNP:
655+c, tdbSNP:182124708
706+c, tdbSNP:202185692
722+c, tdbSNP:141157946
759+a, tdbSNP:45455404
782+g, tdbSNP:75246520
812+dbSNP:
812+c, gdbSNP:1442
851+c, tdbSNP:183236719
884+c, tdbSNP:113538354
906+a, gdbSNP:11543192
962+dbSNP:
962+c, gdbSNP:200535601
966+c, tdbSNP:199852470
974+c, tdbSNP:17849888
976+a, cdbSNP:201177738
977+a, gdbSNP:34334509
978+a, gdbSNP:184978714
1013+a, cdbSNP:189359867
1056+a, gdbSNP:202239395
1113+dbSNP:
1113+a, gdbSNP:199686929
1125+a, gdbSNP:188428210
1129+c, tdbSNP:201210696
1142+a, gdbSNP:1054124
1161+a, gdbSNP:201709971
1188+c, tdbSNP:35920018
1222+a, gdbSNP:201158209
1237+a, cdbSNP:181628475
1244+c, tdbSNP:199645034
1269+c, tdbSNP:11543191
1312+dbSNP:
1312+c, tdbSNP:201060478
1363+g, tdbSNP:190842339
1467+dbSNP:
1467+c, tdbSNP:200298786
1473+c, tdbSNP:148555720
1496+c, tdbSNP:201780948
1538+c, tdbSNP:190191005
1546+a, cdbSNP:199862235
1577+dbSNP:
1577+c, tdbSNP:1133170
1600+c, tdbSNP:192398905
1601+a, gdbSNP:145354485
1647+c, gdbSNP:10057190
1648+a, gdbSNP:114295767
1662+a, cdbSNP:121909212
1665+a, gdbSNP:188677757
1674+a, gdbSNP:201775031
1687+g, tdbSNP:121909216
1701+c, tdbSNP:200065806
1702+a, gdbSNP:73296968
1780+dbSNP:
1780+c, tdbSNP:121909214
1781+c, tdbSNP:4669
1798+a, cdbSNP:267607109
1804+a, gdbSNP:138125037
1806+a, gdbSNP:202066916
1813+a, cdbSNP:267607110
1824+c, tdbSNP:121909208
1825+a, gdbSNP:121909209
1837+g, tdbSNP:200219644
1902+dbSNP:
1902+a, gdbSNP:200887459
1910+a, gdbSNP:35909506
1954+a, tdbSNP:199579539
1964+c, tdbSNP:35151677
2029+dbSNP:
2029+a, gdbSNP:121909215
2031+a, gdbSNP:200201691
2039+c, tdbSNP:45563337
2110+dbSNP:
2110+c, tdbSNP:188333040
2115+c, gdbSNP:143831210
2136+g, tdbSNP:180713598
2138+a, gdbSNP:79829394
2139..2140+, tdbSNP:34975207
2153+dbSNP:
2153+c, tdbSNP:199781494
2159+c, gdbSNP:121909217
2166+c, tdbSNP:201554996
2196+dbSNP:
2196+c, gdbSNP:200927007
2332+a, gdbSNP:142145618
2432+a, cdbSNP:146047755
2480+a, c, g, tdbSNP:17169782
2484+a, cdbSNP:1804507
2671+a, gdbSNP:7854
2698+c, tdbSNP:14813
2750+a, cdbSNP:4572
2760+a, tdbSNP:79114801
Gene SymbolTGFBI
Gene SynonymBIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1
Chromosome5
Locus Map5q31
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000358 Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA. On-demand $849.00 20
Title Matrix metalloproteinase 9 (MMP-9)-dependent processing of betaig-h3 protein regulates cell migration, invasion, and adhesion .
Author Kim,Y.H., Kwon,H.J. and Kim,D.S.
Journal J. Biol. Chem. 287 (46), 38957-38969 (2012)
Title A unique TGFBI protein in granular corneal dystrophy types 1 and 2 .
Author Han,Y.P., Sim,A.J., Vora,S.C. and Huang,A.J.
Journal Curr. Eye Res. 37 (11), 990-996 (2012)
Title In vitro amyloid aggregate forming ability of TGFBI mutants that cause corneal dystrophies .
Author Yam,G.H., Wang,K., Jhanji,V., Choy,K.W., Baum,L. and Pang,C.P.
Journal Invest. Ophthalmol. Vis. Sci. 53 (9), 5890-5898 (2012)
Title TGFBI gene mutations in a Korean population with corneal dystrophy .
Author Cho,K.J., Mok,J.W., Na,K.S., Rho,C.R., Byun,Y.S., Hwang,H.S., Hwang,K.Y. and Joo,C.K.
Journal Mol. Vis. 18, 2012-2021 (2012)
Title Extremely varied phenotypes in granular corneal dystrophy type 2 heterozygotes .
Author Han,K.E., Choi,S.I., Chung,W.S., Jung,S.H., Katsanis,N., Kim,T.I. and Kim,E.K.
Journal Mol. Vis. 18, 1755-1762 (2012)
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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