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TGFBI transforming growth factor, beta-induced, 68kDa [Homo sapiens (human)]


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


Gene Symbol TGFBI
Entrez Gene ID 7045
Full Name transforming growth factor, beta-induced, 68kDa
Synonyms BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

5

5q31
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].
Disorder

MIM: 601692

Corneal dystrophy, Groenouw type I, 121900 (3); Corneal dystrophy,
mRNA NM_000358, 170650698
Protein NP_000349, 4507467
Product transforming growth factor-beta-induced protein ig-h3 precursor
RefSeq Status REVIEWED
Homo sapiens (human)TGFBINP_000349.1
Pan troglodytes (chimpanzee)TGFBIXP_001169327.1
Canis lupus familiaris (dog)TGFBIXP_538640.2
Mus musculus (house mouse)TgfbiNP_033395.1
Gallus gallus (chicken)TGFBINP_990367.1
Danio rerio (zebrafish)tgfbiNP_878282.1
Process
IDNameEvidence
GO:0001525angiogenesisIEP
GO:0007162negative regulation of cell adhesionTAS
GO:0007601visual perceptionIEA
GO:0008283cell proliferationTAS
GO:0030198extracellular matrix organizationIEA
GO:0050896response to stimulusIEA
Component
IDNameEvidence
GO:0005576extracellular regionIEA
GO:0005578proteinaceous extracellular matrixIEA
GO:0005615extracellular spaceIEA
GO:0031012extracellular matrixIDA
Function
IDNameEvidence
GO:0005178integrin bindingTAS
GO:0050840extracellular matrix bindingIEA
GeneCards TGFBI
PDB 1X3B, 2VXP
UniProt Q15582
MIM 601692
Ensembl ENSG00000120708
HGNC 11771
HPRD 03409

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