|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeName
|
M6P/IGF2R
cation-independent mannose-6-phosphate receptor
|
|
gptkbp:associatedWith
|
gptkb:cancer
growth regulation
imprinting disorders
|
|
gptkbp:biologicalProcess
|
signal transduction
endocytosis
regulation of growth
lysosomal enzyme transport
|
|
gptkbp:discoveredBy
|
Willy J. M. van den Hazel et al.
|
|
gptkbp:discoveredIn
|
1987
|
|
gptkbp:encodedBy
|
gptkb:IGF2R_gene
|
|
gptkbp:Entrez_Gene_ID
|
3482
ENSG00000197081
|
|
gptkbp:expressedIn
|
ubiquitous
high in liver
high in placenta
|
|
gptkbp:fullName
|
gptkb:Insulin-like_growth_factor_2_receptor
|
|
gptkbp:function
|
gptkb:mannose_6-phosphate_receptor
lysosomal enzyme trafficking
receptor for insulin-like growth factor 2
|
|
gptkbp:gene
|
gptkb:IGF2R
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:5444
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IGF2R
|
|
gptkbp:interactsWith
|
gptkb:IGF2
gptkb:sortilin
mannose-6-phosphate-containing proteins
GGA proteins
|
|
gptkbp:locatedOnChromosome
|
chromosome 6q25.3
|
|
gptkbp:location
|
gptkb:cell_membrane
gptkb:Golgi_apparatus
endosomes
lysosomes
|
|
gptkbp:molecularWeight
|
~300 kDa
|
|
gptkbp:mutationAssociatedWith
|
loss of function associated with tumorigenesis
|
|
gptkbp:numberOfDomains
|
15 extracellular repeats
|
|
gptkbp:OMIM
|
147280
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
mouse Igf2r
rat Igf2r
|
|
gptkbp:PDB
|
1GP0
|
|
gptkbp:postTranslationalModification
|
phosphorylation
glycosylation
|
|
gptkbp:RefSeq
|
NM_000876
|
|
gptkbp:significance
|
biomarker for cancer
involved in Beckwith-Wiedemann syndrome
involved in Silver-Russell syndrome
|
|
gptkbp:speciesConservedIn
|
mammals
vertebrates
|
|
gptkbp:structure
|
type I transmembrane protein
|
|
gptkbp:UniProtID
|
P11717
|
|
gptkbp:bfsParent
|
gptkb:Igf2
gptkb:Mannose-6-phosphate_receptor
|
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gptkbp:bfsLayer
|
7
|