|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:bone
coronary artery disease
tooth agenesis
bone density regulation
|
|
gptkbp:biologicalProcess
|
cell surface receptor
|
|
gptkbp:clinicalTrialPhase
|
available for some disorders
|
|
gptkbp:discoveredIn
|
1998
|
|
gptkbp:encodes
|
LRP6 protein
|
|
gptkbp:Entrez_Gene_ID
|
4040
ENSG00000134824
|
|
gptkbp:expressedIn
|
various tissues including brain, heart, and bone
|
|
gptkbp:fullName
|
gptkb:Low-density_lipoprotein_receptor-related_protein_6
|
|
gptkbp:function
|
co-receptor in Wnt signaling pathway
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:6694
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LRP6 gene
|
|
gptkbp:interactsWith
|
gptkb:Axin
gptkb:Dishevelled_proteins
gptkb:Frizzled_receptors
gptkb:GSK3β
gptkb:Wnt_ligands
|
|
gptkbp:length
|
1613 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
12p13.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Alzheimer's_disease
gptkb:bone
gptkb:metabolic_syndrome
can cause familial hypercholesterolemia
|
|
gptkbp:OMIM
|
603507
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
present in mammals, birds, and fish
|
|
gptkbp:orthologInMouse
|
gptkb:Lrp6
|
|
gptkbp:pathway
|
lipid metabolism
canonical Wnt/β-catenin signaling
|
|
gptkbp:proteinFamily
|
gptkb:LDL_receptor_family
EGF-like domains
LDL-receptor class A repeats
YWTD repeats
|
|
gptkbp:regulates
|
regulated by phosphorylation
regulated by Wnt signaling
|
|
gptkbp:UniProtID
|
O75581
|
|
gptkbp:bfsParent
|
gptkb:LRP6
|
|
gptkbp:bfsLayer
|
8
|