TGFBI Gene
Transforming Growth Factor Beta Induced
Gene Information Card
| Symbol | TGFBI |
|---|---|
| Full Name | Transforming Growth Factor Beta Induced |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 7045 ncbi.nlm.nih.gov/gene/7045 |
| Ensembl ID | ENSG00000120708 |
| UniProt ID | Q15582 |
| OMIM ID | 601692 |
| HGNC ID | 11771 |
| Aliases | BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1 |
Description
The TGFBI gene encodes an extracellular matrix protein induced by transforming growth factor beta. It functions in cell adhesion, migration, and collagen binding. Mutations in this gene are associated with several autosomal dominant corneal dystrophies, including granular, lattice, and epithelial basement membrane dystrophies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Granular Corneal Dystrophy Type 1 | Missense mutations (e.g., R555W) cause protein aggregation in corneal stroma | ClinVar, OMIM |
| Lattice Corneal Dystrophy Type 1 | Missense mutations (e.g., R124C) lead to amyloid deposition | ClinVar, OMIM |
| Epithelial Basement Membrane Corneal Dystrophy | Mutations in TGFBI disrupt epithelial adhesion | ClinVar, OMIM |
| Reis-Bücklers Corneal Dystrophy | Specific mutations (e.g., R124L) cause superficial corneal opacities | ClinVar, OMIM |
| Thiel-Behnke Corneal Dystrophy | Mutations (e.g., R555Q) result in honeycomb-like corneal deposits | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cornea | High | High |
| Skin | Moderate | Medium |
| Lung | Low | Low |
| Kidney | Low | Low |
| Heart | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Corneal epithelial cells | High | Primary cell type |
| Corneal fibroblasts | Moderate | Stromal cells |
| Keratinocytes | Moderate | Skin |
| A549 (lung carcinoma) | Low | Cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| R124C | Missense | Common | Amyloid deposition in lattice corneal dystrophy |
| R555W | Missense | Common | Protein aggregation in granular corneal dystrophy |
| R124L | Missense | Rare | Reis-Bücklers corneal dystrophy |
| R555Q | Missense | Rare | Thiel-Behnke corneal dystrophy |
| A546D | Missense | Rare | Granular corneal dystrophy type 2 |
Mutation functional classification
Loss of Function (LOF)
Not typically associated; most mutations are gain-of-function or dominant-negative.
Gain of Function (GOF)
Mutations lead to abnormal protein aggregation or amyloid deposition.
Dominant Negative (DN)
Mutant TGFBI protein interferes with normal extracellular matrix assembly.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • collagen binding (GO:0005518) |
| • extracellular region (GO:0005576) | • extracellular matrix organization (GO:0030198) |
| • wound healing (GO:0042060) |
Pathways
• TGF-beta signaling pathway
• Extracellular matrix organization
• Integrin signaling pathway
Protein Summary
TGFBI protein (also known as keratoepithelin or BIGH3) is a secreted extracellular matrix protein of 683 amino acids. It contains four fasciclin-like domains and an RGD motif, mediating cell adhesion via integrins. The protein is highly expressed in corneal epithelium and stroma, and mutations cause protein misfolding leading to corneal dystrophies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGFBI Knockout HEK293 Cell Line | EDJ-KQ5926 | Human | 7045 | Details Get a Quote |
| TGFBI Knockout A-549 Cell Line | EDJ-KQ29469 | Human | 7045 | Details Get a Quote |
| TGFBI Knockout HCT 116 Cell Line | EDJ-KQ29470 | Human | 7045 | Details Get a Quote |
| TGFBI Knockout HeLa Cell Line | EDJ-KQ29471 | Human | 7045 | Details Get a Quote |
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