TGFBI - transforming growth factor beta induced Gene
Also Known as CSD; CDB1; CDG2; CSD1; CSD2; CSD3; EBMD; LCD1; BIGH3; CDGG1
Species: Homo sapiens
About TGFBI
This gene has 15 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 18 phenotypes. Broad expression in placenta (RPKM 227.8), skin (RPKM 133.2) and 19 other tissues.
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]
TGFBI Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000358.3 | NP_000349.1 | transforming growth factor-beta-induced protein ig-h3 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables collagen binding |
IPI
IPI: Inferred from physical interaction
|
19478074 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
31197037 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18083624 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in angiogenesis |
IEP
IEP: Inferred from expression pattern
|
11866539 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
19478074 | GOA |
| located in trans-Golgi network |
IDA
IDA: Inferred from direct assay
|
19478074 | GOA |
TGFBI Protein Structure
Fasciclin: Fasciclin domain (123 - 236)
Fasciclin: Fasciclin domain (252 - 373)
Fasciclin: Fasciclin domain (387 - 500)
Fasciclin: Fasciclin domain (514 - 634)
- 0
- 200
- 400
- 600
- 683 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transforming growth factor-beta-induced protein ig-h3 |
|
TGFBI Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TGFBI | Q15582 | FAM9B | Homo sapiens | Q8IZU0 | 25416956 | |
|
Intra
|
TGFBI | Q15582 | FAM9B | Homo sapiens | Q8IZU0 | 25416956 | |
|
Intra
|
TGFBI | Q15582 | TGFBI | Homo sapiens | Q15582 | 31197037 | |
|
Intra
|
TGFBI | Q15582 | S100P | Homo sapiens | P25815 | 32296183 | |
|
Intra
|
TGFBI | Q15582 | TGFBI | Homo sapiens | Q15582 | 31197037 | |
|
Intra
|
TGFBI | Q15582 | S100P | Homo sapiens | P25815 | 32296183 | |
|
Intra
|
TGFBI | Q15582 | POSTN | Homo sapiens | Q15063 | 19478074 | |
|
Intra
|
TGFBI | Q15582 | POSTN | Homo sapiens | Q15063 | 19478074 | |
|
Intra
|
TGFBI | Q15582 | TGFBI | Homo sapiens | Q15582 | 31197037 | |
|
Cross
|
TGFBI | Q15582 | Postn | Rattus norvegicus | A0A0G2K692 | 19478074 | |
|
Cross
|
TGFBI | Q15582 | Postn | Rattus norvegicus | A0A0G2K692 | 19478074 |
Recombinant TGFBI Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P74525 | TGFBI Protein, Human (HEK293, His, solution) | Q15582 (G24-H683) | ≥ 80%, as determined by reducing SDS-PAGE. |
TGFBI Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82523 | TGFBI Antibody (YA2268) | WB, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Corneal Dystrophy, Groenouw Type I |
|
|
| Corneal Dystrophy, Thiel-Behnke Type |
|
|
| Corneal Dystrophy, Lattice Type I |
|
|
| Corneal Dystrophy, Avellino Type |
|
|
| Corneal Dystrophy, Reis-Bucklers Type |
|
|
| Corneal Dystrophy, Lattice Type Iiia |
|
|
| Corneal Dystrophy, Epithelial Basement Membrane |
|
|
| Epithelial Basement Membrane Dystrophy |
|
|
| Granular Corneal Dystrophy |
|
|
| Corneal Dystrophy |
|
|
| Lattice Corneal Dystrophy |
|
|
| Corneal Disease |
|
|
| Stromal Corneal Dystrophy |
|
|
| Corneal Deposit |
|
|
| Recurrent Corneal Erosion |
|
|
| Corneal Dystrophy, Gelatinous Drop-Like |
|
|
| Epithelial-Stromal Tgfbi Dystrophy |
|
|
| Amyloidosis |
|
|
| Corneal Endothelial Dystrophy |
|
|
| Epithelial And Subepithelial Dystrophy |
|
|
| Fuchs' Endothelial Dystrophy |
|
|
| Conjunctival Vascular Disease |
|
|
| Corneal Dystrophy, Meesmann, 1 |
|
|
| Corneal Degeneration |
|
|
| Macular Dystrophy, Corneal |
|
|
| Stromal Dystrophy |
|
|
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
|
| Irregular Astigmatism |
|
|
| Interstitial Keratitis |
|
|
| Epithelial Recurrent Erosion Dystrophy |
|
|
| Keratoconus |
|
|
| Amyloidosis, Finnish Type |
|
|
| Secondary Corneal Edema |
|
|
| Schnyder Corneal Dystrophy |
|
|
| Corneal Ectasia |
|
|
| Primary Cutaneous Amyloidosis |
|
|
| Corneal Edema |
|
|
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Osteopetrosis, Autosomal Recessive 6 |
|
|
| Retinal Degeneration |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Eye Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | TGFBI | VGNC | VGNC:52886 |
| Canis familiaris | TGFBI | VGNC | VGNC:47311 |
| Mus musculus | TGFBI | MGD | MGI:99959 |
| Felis catus | TGFBI | VGNC | VGNC:66134 |
| Rattus norvegicus | TGFBI | RGD | RGD:620017 |
| Macaca mulatta | TGFBI | VGNC | VGNC:78336 |
| Others | TGFBI | NCBI |