|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:OBR
gptkb:CD295
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:type_2_diabetes
gptkb:metabolic_syndrome
obesity
infertility
immunodeficiency
hyperphagia
leptin receptor deficiency
|
|
gptkbp:discoveredBy
|
gptkb:Jeffrey_M._Friedman
|
|
gptkbp:encodes
|
leptin receptor protein
|
|
gptkbp:Entrez_Gene_ID
|
3953
|
|
gptkbp:expressedIn
|
liver
adipose tissue
hypothalamus
|
|
gptkbp:firstDescribed
|
1995
|
|
gptkbp:fullName
|
leptin receptor
|
|
gptkbp:function
|
mediates leptin signaling
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasIsoform
|
long isoform
short isoform
soluble isoform
|
|
gptkbp:HGNC_ID
|
6554
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LEPR
|
|
gptkbp:involvedIn
|
appetite regulation
energy homeostasis
body weight regulation
|
|
gptkbp:length
|
18 exons
|
|
gptkbp:locatedOnChromosome
|
1p31
|
|
gptkbp:location
|
gptkb:cell_membrane
gptkb:cytoplasm
|
|
gptkbp:molecularWeight
|
~120 kDa (long isoform)
|
|
gptkbp:mutationAssociatedWith
|
severe early-onset obesity
|
|
gptkbp:OMIM
|
601007
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Lepr
|
|
gptkbp:proteinFamily
|
cytokine receptor family
type I cytokine receptor family
|
|
gptkbp:receptorFor
|
gptkb:leptin
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:symbol
|
gptkb:LEPR
|
|
gptkbp:transmembraneDomains
|
yes
|
|
gptkbp:type
|
gptkb:MAPK_pathway
gptkb:PI3K_pathway
gptkb:JAK-STAT_pathway
|
|
gptkbp:UniProtID
|
P48357
|
|
gptkbp:bfsParent
|
gptkb:Leptin
|
|
gptkbp:bfsLayer
|
6
|