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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 (Transforming Growth Factor Beta Induced) is a Protein Coding gene. Diseases associated with TGFBI include Corneal Dystrophy, Avellino Type and Corneal Dystrophy, Reis-Bucklers Type. Among its related pathways are Metabolism of proteins and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include integrin binding and extracellular matrix binding. An important paralog of this gene is POSTN.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005178 | integrin binding | IEA | -- |
GO:0005201 | extracellular matrix structural constituent | RCA | 20551380 |
GO:0005515 | protein binding | IPI | 19478074 |
GO:0005518 | collagen binding | IEA,IPI | 19478074 |
GO:0050839 | cell adhesion molecule binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005604 | basement membrane | IEA | -- |
GO:0005615 | extracellular space | TAS,IDA | 19478074 |
GO:0005802 | trans-Golgi network | IDA | 19478074 |
GO:0005886 | plasma membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Adhesion |
-
|
|
2 | Wnt / Hedgehog / Notch | ||
3 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
4 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEP | 11866539 |
GO:0002062 | chondrocyte differentiation | IEA | -- |
GO:0007155 | cell adhesion | IEA,IBA | 21873635 |
GO:0007162 | negative regulation of cell adhesion | TAS | 8024701 |
GO:0007601 | visual perception | TAS,IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Calcium | Nutra | 6556 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: |
ExUns: | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||
SP4: | |||||||||||||||||||||||
SP5: | |||||||||||||||||||||||
SP6: | |||||||||||||||||||||||
SP7: | |||||||||||||||||||||||
SP8: | |||||||||||||||||||||||
SP9: | |||||||||||||||||||||||
SP10: | |||||||||||||||||||||||
SP11: | |||||||||||||||||||||||
SP12: | |||||||||||||||||||||||
SP13: | - | - | |||||||||||||||||||||
SP14: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TGFBI 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TGFBI 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TGFBI 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tgfbi 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TGFBI 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tgfbi 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TGFBI 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TGFBI 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TGFBI 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tgfbi 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.1587 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tgfbi 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9551 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | mfas 30 31 32 |
|
ManyToMany | |
Fas1 31 |
|
ManyToMany | |||
CG43333 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004428 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F26E4.7 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713967 | Conflicting Interpretations: Corneal dystrophy; not provided | 136,055,773(+) | A/G | MISSENSE_VARIANT | |
741453 | Likely Benign: not provided | 136,049,468(+) | G/A | SYNONYMOUS_VARIANT | |
742763 | Conflicting Interpretations: Corneal dystrophy; not provided | 136,055,708(+) | C/T | MISSENSE_VARIANT | |
746359 | Conflicting Interpretations: Corneal dystrophy; not provided | 136,049,519(+) | C/A | SYNONYMOUS_VARIANT | |
750482 | Benign/Likely Benign: Corneal dystrophy; not provided | 136,049,472(+) | C/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759380 | CNV | loss | 17122850 |
Disorder | Aliases | PubMed IDs |
---|---|---|
corneal dystrophy, avellino type |
|
|
corneal dystrophy, reis-bucklers type |
|
|
corneal dystrophy, thiel-behnke type |
|
|
corneal dystrophy, groenouw type i |
|
|
corneal dystrophy, lattice type i |
|