Statements (29)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:Weill-Marchesani_syndrome
gptkb:ectopia_lentis gptkb:primary_congenital_glaucoma extracellular matrix TGF-beta signaling microfibril formation megalocornea |
gptkbp:discoveredIn |
1995
|
gptkbp:encodes |
Latent-transforming growth factor beta-binding protein 2
|
gptkbp:Entrez_Gene_ID |
4053
|
gptkbp:expressedIn |
gptkb:cancer
gptkb:skeletal_muscle gptkb:kidney eye heart |
gptkbp:fullName |
latent transforming growth factor beta binding protein 2
|
gptkbp:function |
structural component of microfibrils
regulation of TGF-beta bioavailability |
https://www.w3.org/2000/01/rdf-schema#label |
LTBP2
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_14
|
gptkbp:OMIM |
602091
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Ltbp2
|
gptkbp:proteinFamily |
LTBP family
|
gptkbp:UniProtID |
Q14767
|
gptkbp:bfsParent |
gptkb:Weill-Marchesani_syndrome
|
gptkbp:bfsLayer |
8
|