|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:insulin_receptor
gptkb:INSR
gptkb:CD220
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:biologicalProcess
|
glucose homeostasis
protein tyrosine kinase activity
insulin binding
cellular response to insulin stimulus
insulin receptor signaling pathway
|
|
gptkbp:cellularComponent
|
gptkb:plasma_membrane
|
|
gptkbp:discoveredBy
|
gptkb:Ronald_Kahn
|
|
gptkbp:discoveredIn
|
1985
|
|
gptkbp:encodes
|
gptkb:insulin_receptor
|
|
gptkbp:Entrez_Gene_ID
|
3643
ENSG00000171105
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
liver
various tissues
adipose tissue
|
|
gptkbp:fullName
|
insulin receptor gene
|
|
gptkbp:function
|
regulates glucose uptake
involved in cell growth and differentiation
mediates the actions of insulin
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:6091
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
INSR gene
|
|
gptkbp:locatedOnChromosome
|
gptkb:19p13.2
gptkb:chromosome_19
|
|
gptkbp:mutationAssociatedWith
|
gptkb:Donohue_syndrome
gptkb:Rabson-Mendenhall_syndrome
gptkb:type_2_diabetes
insulin resistance
|
|
gptkbp:OMIM
|
147670
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Insr
|
|
gptkbp:proteinFamily
|
receptor tyrosine kinase family
|
|
gptkbp:UniProtID
|
P06213
|
|
gptkbp:bfsParent
|
gptkb:Insulin_receptor
|
|
gptkbp:bfsLayer
|
6
|