|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alternativeName
|
gp330
megalin
|
|
gptkbp:associatedWith
|
proteinuria
facial dysmorphism
Donnai-Barrow syndrome
|
|
gptkbp:discoveredBy
|
Nykjaer et al.
|
|
gptkbp:encodes
|
megalin
|
|
gptkbp:Entrez_Gene_ID
|
4036
ENSG00000154027
|
|
gptkbp:expressedIn
|
gptkb:thyroid
gptkb:cancer
gptkb:kidney
gptkb:placenta
brain
epithelial cells
|
|
gptkbp:firstDescribed
|
1996
|
|
gptkbp:function
|
endocytosis receptor
uptake of multiple ligands
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
6698
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LRP2
|
|
gptkbp:interactsWith
|
gptkb:insulin
gptkb:apolipoprotein_B
gptkb:lipoprotein_lipase
albumin
retinol-binding protein
SHH (Sonic Hedgehog)
transcobalamin
vitamin D-binding protein
|
|
gptkbp:length
|
4655
|
|
gptkbp:locatedOnChromosome
|
2q24-q31
|
|
gptkbp:memberOf
|
gptkb:low_density_lipoprotein_receptor_family
|
|
gptkbp:molecularWeight
|
~600 kDa
|
|
gptkbp:mutationAssociatedWith
|
Donnai-Barrow syndrome
facial-oculo-acoustico-renal syndrome
|
|
gptkbp:OMIM
|
600073
|
|
gptkbp:orthologInMouse
|
Lrp2
|
|
gptkbp:RefSeq
|
NM_004525
|
|
gptkbp:subcellularLocation
|
gptkb:plasma_membrane
endocytic vesicle
|
|
gptkbp:UniProtID
|
P98164
|
|
gptkbp:bfsParent
|
gptkb:LDL_receptor_class_A_domain
|
|
gptkbp:bfsLayer
|
7
|