Homo sapiens Gene: TGFBI
Summary
InnateDB Gene IDBG-45833.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TGFBI
Gene Name transforming growth factor, beta-induced, 68kDa
Synonyms BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1;
Species Homo sapiens
Ensembl Gene ENSG00000120708
Encoded Proteins
transforming growth factor, beta-induced, 68kDa
transforming growth factor, beta-induced, 68kDa
transforming growth factor, beta-induced, 68kDa
transforming growth factor, beta-induced, 68kDa
transforming growth factor, beta-induced, 68kDa
transforming growth factor, beta-induced, 68kDa
transforming growth factor, beta-induced, 68kDa
transforming growth factor, beta-induced, 68kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:136028895-136063818
Strand Forward strand
Band q31.1
Transcripts
ENST00000442011 ENSP00000416330
ENST00000504185
ENST00000506699
ENST00000507018 ENSP00000421540
ENST00000515433
ENST00000508767 ENSP00000423871
ENST00000509749
ENST00000514554 ENSP00000421440
ENST00000509485 ENSP00000426589
ENST00000514242
ENST00000513497
ENST00000508076 ENSP00000423935
ENST00000503087 ENSP00000427137
ENST00000504411
ENST00000604555 ENSP00000474155
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0005518 collagen binding
GO:0050840 extracellular matrix binding
Biological Process
GO:0001525 angiogenesis
GO:0002062 chondrocyte differentiation
GO:0007155 cell adhesion
GO:0007162 negative regulation of cell adhesion
GO:0007601 visual perception
GO:0008283 cell proliferation
GO:0030198 extracellular matrix organization
GO:0050896 response to stimulus
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005802 trans-Golgi network
GO:0005886 plasma membrane
GO:0031012 extracellular matrix
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Amyloids pathway
Disease pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Beta1 integrin cell surface interactions
Beta2 integrin cell surface interactions
Beta3 integrin cell surface interactions
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.369397
RefSeq NM_000358
HUGO
OMIM
CCDS CCDS47266
HPRD 03409
IMGT
EMBL
GenPept
RNA Seq Atlas