TGFBI Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TGFBI |
| Official Name | transforming growth factor beta induced [Source:HGNC Symbol;Acc:HGNC:11771] |
| Ensembl ID | ENSG00000120708 |
| Bio databases IDs | |
| Aliases | transforming growth factor beta induced |
| Synonyms | Beta-ig, beta ig h3, BIGH3, CDB1, CDB2, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1, Tgf-beta-induced 68kda, TGFBIP, Tgf-β-induced 68kda, transforming growth factor beta induced, transforming growth factor, beta induced, transforming growth factor β induced, transforming growth factor, β induced, β-ig, β Ig-H3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TGFBI often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fasciclin domain
- FAS1 domain
- extracellular matrix binding
- integrin binding
- Tyr/His-rich motif
- RGD motif
- extracellular matrix structural constituent
- collagen binding
- protein binding
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- epithelial neoplasia
- cancer
- metastasis
- lung adenocarcinoma formation
- Alzheimer disease
- autosomal dominant Emery-Dreifuss muscular dystrophy
- glioblastoma
- glioblastoma cancer
role in cell
- apoptosis
- number
- expression in
- phosphorylation in
- proliferation
- development
- migration
- permeability
- adhesion
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- detergent resistant lipid raft fraction
- Plasma Membrane
- trans Golgi network
- extracellular matrix
- exosomes
- plasma
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TGFBI gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- angiogenesis
- negative regulation of cell adhesion
- extracellular matrix organization
- chondrocyte differentiation
- cell adhesion
- visual perception
Cellular Component
Where in the cell the gene product is active
- basement membrane
- extracellular space
- trans-Golgi network
- extracellular vesicular exosome
- extracellular matrix
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- extracellular matrix binding
- identical protein binding
- protein binding
- collagen binding
- cell adhesion molecule binding
- integrin binding
- extracellular matrix structural constituent