|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:OBR
gptkb:CD295
LEP-R
OB-R
|
|
gptkbp:alternativeSplicing
|
produces multiple isoforms
|
|
gptkbp:associatedWith
|
gptkb:type_2_diabetes
gptkb:metabolic_syndrome
obesity
infertility
immunodeficiency
dyslipidemia
hyperphagia
leptin receptor deficiency
|
|
gptkbp:clinicalTrialPhase
|
available for obesity syndromes
|
|
gptkbp:discoveredBy
|
gptkb:Jeffrey_M._Friedman
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
leptin receptor
|
|
gptkbp:Entrez_Gene_ID
|
3953
rs1137101
|
|
gptkbp:expressedIn
|
gptkb:placenta
liver
adipose tissue
pancreas
hypothalamus
|
|
gptkbp:fullName
|
leptin receptor gene
|
|
gptkbp:function
|
mediates the biological effects of leptin
|
|
gptkbp:gene
|
gptkb:LEPR
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
6554
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LEPR gene
|
|
gptkbp:length
|
1165 amino acids (long isoform)
|
|
gptkbp:locatedOnChromosome
|
chromosome 1
1p31
|
|
gptkbp:mutationAssociatedWith
|
can cause severe early-onset obesity
|
|
gptkbp:OMIM
|
601007
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse
right
|
|
gptkbp:pathway
|
immune function
appetite regulation
energy homeostasis
body weight regulation
neuroendocrine function
|
|
gptkbp:proteinFamily
|
cytokine receptor family
|
|
gptkbp:recipient
|
single-pass type I membrane protein
|
|
gptkbp:RefSeq
|
NM_002303
NP_002294
|
|
gptkbp:type
|
gptkb:JAK-STAT_pathway
|
|
gptkbp:UniProtID
|
P48357
|
|
gptkbp:bfsParent
|
gptkb:CD295
|
|
gptkbp:bfsLayer
|
8
|