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
195674382009Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.180
172299512007Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.157
152405182004Enhanced expression of leptin and leptin receptor (OB-R) in human breast cancer.142
165337672006Increased expression of leptin and the leptin receptor as a marker of breast cancer progression: possible role of obesity-related stimuli.120
182821092008Adaptations to climate in candidate genes for common metabolic disorders.116
235636092013Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.107
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
205855542010On the use of variance per genotype as a tool to identify quantitative trait interaction effects: a report from the Women's Genome Health Study.81
192792512009Direct innervation of GnRH neurons by metabolic- and sexual odorant-sensing leptin receptor neurons in the hypothalamic ventral premammillary nucleus.80
159729402005Genetics of leptin and obesity: a HuGE review.71

Citation

Dessen P

LEPR (leptin receptor)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43957/lepr