LEPR (leptin receptor)

2007-02-01  

Identity

HGNC
LEPR
LOCATION
1p31.3
LOCUSID
3953
ALIAS
CD295,LEP-R,LEPRD,OB-R,OBR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3953
MIM: 601007
HGNC: 6554
Ensembl: ENSG00000116678

Variants:

dbSNP: 3953
ClinVar: 3953
TCGA: ENSG00000116678
COSMIC: LEPR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116678ENST00000344610P48357
ENSG00000116678ENST00000349533P48357
ENSG00000116678ENST00000371058P48357
ENSG00000116678ENST00000371059P48357
ENSG00000116678ENST00000371060P48357
ENSG00000116678ENST00000616738P48357

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Cytokine-cytokine receptor interactionKEGGko04060
Neuroactive ligand-receptor interactionKEGGko04080
Jak-STAT signaling pathwayKEGGko04630
Adipocytokine signaling pathwayKEGGko04920
Cytokine-cytokine receptor interactionKEGGhsa04060
Neuroactive ligand-receptor interactionKEGGhsa04080
Jak-STAT signaling pathwayKEGGhsa04630
Adipocytokine signaling pathwayKEGGhsa04920
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Signal TransductionREACTOMER-HSA-162582
Signaling by LeptinREACTOMER-HSA-2586552

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
choroid plexus
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165108401Acute coronary syndromeDiseaseClinicalAnnotationassociatedPD19023160
PA443797Coronary DiseaseDiseaseClinicalAnnotationassociatedPD18854995
PA444065EpilepsyDiseaseClinicalAnnotationassociatedPD
PA444528HyperlipidemiasDiseaseClinicalAnnotationassociatedPD14625131
PA448500atorvastatinChemicalClinicalAnnotationassociatedPD19023160
PA451363simvastatinChemicalClinicalAnnotationassociatedPD14625131, 18854995
PA451846valproic acidChemicalClinicalAnnotationassociatedPD
PA452233antipsychoticsChemicalClinicalAnnotationassociatedPD21510767

References

Pubmed IDYearTitleCitations
378011292024Association of polymorphism in leptin receptor gene with susceptibility of adolescent idiopathic scoliosis.0
380919962024Immunomodulatory leptin receptor(+) sympathetic perineurial barrier cells protect against obesity by facilitating brown adipose tissue thermogenesis.1
382756202024Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth.0
388439182024A Comprehensive Study of the Association between LEPR Gene rs1137101 Variant and Risk of Digestive System Cancers.0
378011292024Association of polymorphism in leptin receptor gene with susceptibility of adolescent idiopathic scoliosis.0
380919962024Immunomodulatory leptin receptor(+) sympathetic perineurial barrier cells protect against obesity by facilitating brown adipose tissue thermogenesis.1
382756202024Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth.0
388439182024A Comprehensive Study of the Association between LEPR Gene rs1137101 Variant and Risk of Digestive System Cancers.0
364704802023Association of genetic variants in Leptin, leptin receptor and adiponectin with hypertension risk and circulating Leptin/Adiponectin changes.1
366021282023Association of the leptin receptor rs 1805134 polymorphism with obesity parameters, dietary intakes, and metabolic syndrome in Caucasian obese subjects.1
368258602023A National Multicenter Study of Leptin and Leptin Receptor Deficiency and Systematic Review.1
368647472023Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.1
369437222023Correlation of Q223R and K109R polymorphisms in leptin receptor gene with susceptibility of breast cancer: A systematic review and meta-analysis.0
370062452023Deficient leptin receptor signaling in T cells of human SLE.0
371000072023Placenta DNA methylation levels of the promoter region of the leptin receptor gene are associated with infant cortisol.2

Citation

Dessen P

LEPR (leptin receptor)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43957/lepr-(leptin-receptor)