LTBP2

GPTKB entity

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