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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26539 Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu26539C Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA. Customized vector On-demand $329.00 12-14

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Data sheet
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
Restriction Sites Hind III- EcoR I
RefSeq Version NM_000358.2, 170650698
Length 2052 bp
Structure linear
Update Date 25-MAY-2014
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)294..437
Misc Feature(3)558..869
Misc Feature(4)918..1280
Misc Feature(5)1317..1661
Misc Feature(6)1701..2063
Misc Feature(7)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
50+dbSNP:
50+c, tdbSNP:368738731
261+c, tdbSNP:6866553
302+dbSNP:
302+c, tdbSNP:368854767
317+a, gdbSNP:56099530
377+a, gdbSNP:372182906
385+a, gdbSNP:376708827
401+dbSNP:
401+c, tdbSNP:370117299
407+c, tdbSNP:373533246
483+dbSNP:
483+a, gdbSNP:188322933
488+c, tdbSNP:370398713
507+a, gdbSNP:374678658
523+a, gdbSNP:368481276
531+a, c, tdbSNP:121909210
532+a, g, tdbSNP:121909211
535+c, gdbSNP:372436914
554+g, tdbSNP:199604416
565+c, tdbSNP:377011307
566+c, tdbSNP:180743451
580+c, tdbSNP:367994294
592+a, gdbSNP:371581568
607+c, tdbSNP:76212104
608+c, gdbSNP:376089468
647+dbSNP:
647+c, tdbSNP:373003334
655+c, tdbSNP:182124708
657+a, gdbSNP:370299079
675+c, tdbSNP:374172528
684+a, gdbSNP:368580532
697+a, gdbSNP:371119133
706+c, tdbSNP:202185692
722+c, tdbSNP:141157946
741+a, gdbSNP:368377216
746+c, tdbSNP:372432466
754+c, tdbSNP:267600349
755+c, tdbSNP:375363208
759+a, tdbSNP:45455404
782+g, tdbSNP:75246520
791+dbSNP:
791+a, gdbSNP:369690547
808+g, tdbSNP:373585898
812+c, gdbSNP:1442
839+c, tdbSNP:369362360
851+c, tdbSNP:183236719
857+c, tdbSNP:377332036
884+c, tdbSNP:113538354
900+a, cdbSNP:370262564
901+c, tdbSNP:376340498
906+a, gdbSNP:11543192
931+a, gdbSNP:377709778
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
990+c, gdbSNP:373990552
1003+a, cdbSNP:367862160
1013+a, cdbSNP:189359867
1017+a, gdbSNP:375533446
1056+a, gdbSNP:202239395
1113+dbSNP:
1113+a, gdbSNP:199686929
1124+c, tdbSNP:373071121
1125+a, gdbSNP:188428210
1129+c, tdbSNP:201210696
1142+a, gdbSNP:1054124
1161+a, gdbSNP:201709971
1188+c, tdbSNP:35920018
1203+g, tdbSNP:370797081
1211+a, gdbSNP:374082690
1222+a, gdbSNP:201158209
1237+a, cdbSNP:181628475
1244+c, tdbSNP:199645034
1269+c, tdbSNP:11543191
1312+dbSNP:
1312+c, tdbSNP:201060478
1328+c, tdbSNP:369100201
1363+g, tdbSNP:190842339
1467+dbSNP:
1467+c, tdbSNP:200298786
1473+c, tdbSNP:148555720
1490+g, tdbSNP:370832393
1496+c, tdbSNP:201780948
1513+a, gdbSNP:373018643
1531+c, gdbSNP:376040755
1538+c, tdbSNP:190191005
1546+a, cdbSNP:199862235
1567+a, gdbSNP:376761086
1577+dbSNP:
1577+c, tdbSNP:1133170
1600+c, tdbSNP:192398905
1601+a, gdbSNP:145354485
1625+c, tdbSNP:372556093
1637+a, cdbSNP:376760680
1647+c, gdbSNP:10057190
1648+a, gdbSNP:114295767
1652+a, gdbSNP:376133587
1662+a, c, tdbSNP:121909212
1665+a, gdbSNP:188677757
1674+a, gdbSNP:201775031
1687+g, tdbSNP:121909216
1695+a, gdbSNP:370523274
1701+c, tdbSNP:200065806
1702+a, gdbSNP:73296968
1759+dbSNP:
1759+a, gdbSNP:371923032
1780+c, tdbSNP:121909214
1781+c, tdbSNP:4669
1798+a, cdbSNP:267607109
1803+c, tdbSNP:367944058
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
complement(1910)-g, adbSNP:35909506
1910+c, tdbSNP:386475283
1924+a, gdbSNP:377713090
1954+a, tdbSNP:199579539
complement(1964)-t, cdbSNP:35151677
1964+c, tdbSNP:386455762
2029+dbSNP:
2029+a, gdbSNP:121909215
2031+a, gdbSNP:200201691
2039+c, tdbSNP:45563337
2107+dbSNP:
2107+c, gdbSNP:377519138
2110+c, tdbSNP:188333040
2115+c, gdbSNP:143831210
2136+g, tdbSNP:180713598
2138+a, gdbSNP:79829394
2142..2143+, tdbSNP:34975207
2153+dbSNP:
2153+c, tdbSNP:199781494
2159+c, gdbSNP:121909217
2166+c, tdbSNP:201554996
2196+dbSNP:
2196+c, gdbSNP:200927007
2242+c, tdbSNP:370910755
2243+a, gdbSNP:373032581
2253+c, tdbSNP:376033284
2258+a, gdbSNP:370309697
2283..2286+, tgttdbSNP:368290568
2285..2288+, tttgdbSNP:376325382
2285+c, tdbSNP:373984033
2332+a, gdbSNP:142145618
2364+g, tdbSNP:377202155
2432+a, cdbSNP:146047755
2480+a, c, g, tdbSNP:17169782
2484+a, cdbSNP:1804507
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
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 $279.00 12-14
Title Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I .
Author Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH and Moore CB.
Journal Invest. Ophthalmol. Vis. Sci. 55 (2), 977-985 (2014)
Title POSTN/TGFBI-associated stromal signature predicts poor prognosis in serous epithelial ovarian cancer .
Author Karlan BY, Dering J, Walsh C, Orsulic S, Lester J, Anderson LA, Ginther CL, Fejzo M and Slamon D.
Journal Gynecol. Oncol. 132 (2), 334-342 (2014)
Title Mutation in transforming growth factor beta induced protein associated with granular corneal dystrophy type 1 reduces the proteolytic susceptibility through local structural stabilization .
Author Underhaug J, Koldso H, Runager K, Nielsen JT, Sorensen CS, Kristensen T, Otzen DE, Karring H, Malmendal A, Schiott B, Enghild
Journal Biochim. Biophys. Acta 1834 (12), 2812-2822 (2013)
Title Benzalkonium chloride accelerates the formation of the amyloid fibrils of corneal dystrophy-associated peptides .
Author Kato Y, Yagi H, Kaji Y, Oshika T and Goto Y.
Journal J. Biol. Chem. 288 (35), 25109-25118 (2013)
Title Oncostatin M promotes mesenchymal stem cell-stimulated tumor growth through a paracrine mechanism involving periostin and TGFBI .
Author Lee MJ, Heo SC, Shin SH, Kwon YW, Do EK, Suh DS, Yoon MS and Kim JH.
Journal Int. J. Biochem. Cell Biol. 45 (8), 1869-1877 (2013)
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 RG, Bezverkov KI, Zimber MP, Pavelec R, Skonier J and Purchio AF.
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 and Marquardt H.
Journal DNA Cell Biol. 13 (6), 571-584 (1994)
Title Three autosomal dominant corneal dystrophies map to chromosome 5q .
Author Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM and Streb LM.
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 GD and Purchio AF.
Journal DNA Cell Biol. 11 (7), 511-522 (1992)

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