InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TGFBI

Summary

InnateDB Protein

IDBP-377209.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TGFBI

Protein Name

transforming growth factor, beta-induced, 68kDa

Synonyms

BIGH3; CDB1; CDG2; CDGG1; CSD; CSD1; CSD2; CSD3; EBMD; LCD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000416330

InnateDB Gene

IDBG-45833 (TGFBI)

Protein Structure

UniProt Annotation

Function

Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation.

Subcellular Localization

Secreted, extracellular space, extracellular matrix. Note=May be associated both with microfibrils and with the cell surface.

Disease Associations

Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820]: A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris. {ECO:0000269PubMed:16652336}. Note=The disease is caused by mutations affecting the gene represented in this entry.Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]: A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment. {ECO:0000269PubMed:15623763}. Note=The disease is caused by mutations affecting the gene represented in this entry.Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs. {ECO:0000269PubMed:10837380, ECO:0000269PubMed:11413411, ECO:0000269PubMed:14597039, ECO:0000269PubMed:15531312, ECO:0000269PubMed:15623763, ECO:0000269PubMed:15838722, ECO:0000269PubMed:16541014, ECO:0000269PubMed:17013691, ECO:0000269PubMed:9799082}. Note=The disease is caused by mutations affecting the gene represented in this entry.Corneal dystrophy, Thiel-Behnke type (CDTB) [MIM:602082]: A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions. Note=The disease is caused by mutations affecting the gene represented in this entry.Corneal dystrophy, Reis-Bucklers type (CDRB) [MIM:608470]: A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils. {ECO:0000269PubMed:10660331, ECO:0000269PubMed:15623763, ECO:0000269PubMed:9780098}. Note=The disease is caused by mutations affecting the gene represented in this entry.Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern. {ECO:0000269PubMed:15790870, ECO:0000269PubMed:9497262}. Note=The disease is caused by mutations affecting the gene represented in this entry.Corneal dystrophy, Avellino type (CDA) [MIM:607541]: A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in the corneal epithelium. {ECO:0000269PubMed:8077289}.

Comments

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