TGFBI Chromosome 5
Transforming growth factor beta induced
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What This Gene Does
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]
Associated Conditions (11)
Epithelial basement membrane dystrophy
Corneal dystrophy
7 conditions
Thiel-Behnke corneal dystrophy
Epithelial-stromal TGFBI dystrophy
Groenouw corneal dystrophy type I
Reis-Bucklers' corneal dystrophy
Inborn genetic diseases
Lattice corneal dystrophy Type I
Avellino corneal dystrophy
lattice type 3A
Key Variants
RS121909217
Conflicting classifications of pathogenicity
Epithelial basement membrane dystrophy, Corneal dystrophy, 7 conditions
Health Risk
RS188677757
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS189359867
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS192398905
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS199645034
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS200065806
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS201210696
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS201775031
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS202239395
Conflicting classifications of pathogenicity
Corneal dystrophy, 7 conditions, Corneal dystrophy
Health Risk
RS369100201
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS369362360
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
RS529657143
Conflicting classifications of pathogenicity
Corneal dystrophy, Corneal dystrophy
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121909217 | Health Risk | Conflicting classifications of pathogenicity | Epithelial basement membrane dystrophy, Corneal dystrophy, 7 conditions |
| RS188677757 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS189359867 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS192398905 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS199645034 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS200065806 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS201210696 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS201775031 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS202239395 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, 7 conditions, Corneal dystrophy |
| RS369100201 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS369362360 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS529657143 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Corneal dystrophy |
| RS1751703312 | Health Risk | Likely pathogenic | Thiel-Behnke corneal dystrophy, Thiel-Behnke corneal dystrophy |
| RS2126915354 | Health Risk | Likely pathogenic | Epithelial-stromal TGFBI dystrophy, Epithelial-stromal TGFBI dystrophy |
| RS2126917684 | Health Risk | Likely pathogenic | Groenouw corneal dystrophy type I, Groenouw corneal dystrophy type I |
| RS2126917690 | Health Risk | Likely pathogenic | Epithelial-stromal TGFBI dystrophy, Epithelial-stromal TGFBI dystrophy |
| RS2479615961 | Health Risk | Likely pathogenic | Reis-Bucklers' corneal dystrophy, Reis-Bucklers' corneal dystrophy |
| RS2479618543 | Health Risk | Likely pathogenic | — |
| RS1052006472 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS121909208 | Health Risk | Pathogenic | Groenouw corneal dystrophy type I, 7 conditions, Lattice corneal dystrophy Type I |
| RS121909209 | Health Risk | Pathogenic | Thiel-Behnke corneal dystrophy, Thiel-Behnke corneal dystrophy |
| RS121909210 | Health Risk | Pathogenic | Lattice corneal dystrophy Type I, Epithelial-stromal TGFBI dystrophy, Groenouw corneal dystrophy type I |
| RS121909211 | Health Risk | Pathogenic | Avellino corneal dystrophy, Reis-Bucklers' corneal dystrophy, Avellino corneal dystrophy |
| RS121909214 | Health Risk | Pathogenic | Corneal dystrophy, lattice type 3A, Corneal dystrophy |
| RS121909215 | Health Risk | Pathogenic | Reis-Bucklers' corneal dystrophy, Reis-Bucklers' corneal dystrophy |
| RS121909216 | Health Risk | Pathogenic | Epithelial basement membrane dystrophy, Epithelial basement membrane dystrophy |
| RS2126915359 | Health Risk | Pathogenic | Reis-Bucklers' corneal dystrophy, Reis-Bucklers' corneal dystrophy |
| RS121909212 | Health Risk | Pathogenic/Likely pathogenic | Corneal dystrophy, lattice type 3A, 7 conditions |