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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LEPR
leptin receptor
Chromosome 1 Β· 1p31.3
NCBI Gene: 3953Ensembl: ENSG00000116678.20HGNC: HGNC:6554UniProt: P48357
746PubMed Papers
21Diseases
2Drugs
34Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneReceptor
RESEARCH IMPACT
Highly Studied
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
signaling receptor complexangiogenesiscell surface receptor signaling pathway via STATleptin-mediated signaling pathwayobesity due to leptin receptor gene deficiencytype 2 diabetes mellituslipodystrophyobesity
✦AI Summary

LEPR (leptin receptor) is a cell surface cytokine receptor that mediates leptin signaling through STAT-dependent pathways, playing a central role in energy homeostasis and glucose regulation. The receptor binds leptin, an adipokine secreted by adipose tissue and placenta, to transduce signals regulating feeding behavior, body weight, and metabolic adaptation 1. Beyond metabolism, LEPR activation orchestrates diverse physiological responses including neuroendocrine function, immune regulation, bone development, and hematopoiesis 12. Recent evidence reveals that LEPR-expressing sympathetic perineurial barrier cells in brown adipose tissue produce interleukin-33, creating an immunomodulatory microenvironment essential for thermogenesis and leptin-mediated metabolic rescue 3. Functionally, LEPR antagonizes leptin endocytosis, regulating the duration of signaling. Biallelic LEPR mutations cause severe monogenic obesity responsive to MC4R agonists, whereas monoallelic variants do not significantly elevate obesity risk 45. Epigenetic alterations in LEPR methylation associate with childhood obesity in a race-specific manner 6. Additionally, LEPR is implicated in colorectal cancer progression and prognosis, suggesting roles beyond metabolic homeostasis 7.

Sources cited
1
LEPR mediates leptin signaling affecting feeding behavior, neuroendocrine regulation, hematopoiesis, bone and brain development
PMID: 15159169
2
LEPR structural characteristics, signaling pathways, and functional effects in metabolism and immunological responses
PMID: 9784936
3
LEPR-expressing perineurial cells produce IL-33 to regulate anti-inflammatory environment and thermogenesis
PMID: 38091996
4
Biallelic LEPR defects cause monogenic obesity as part of the leptin-melanocortin pathway
PMID: 18230891
5
Monoallelic LEPR variants do not cause obesity or elevated BMI risk
PMID: 39561769
6
LEPR methylation levels associate with childhood obesity in a race-specific manner
PMID: 36360268
7
LEPR expression is elevated in colorectal cancer and plays a role in carcinogenesis and progression
PMID: 40873198
8
LEPR is expressed in placental tissues and mediates fetal growth and development
PMID: 10711732
Disease Associationsβ“˜21
obesity due to leptin receptor gene deficiencyOpen Targets
0.75Strong
type 2 diabetes mellitusOpen Targets
0.53Moderate
lipodystrophyOpen Targets
0.49Moderate
obesityOpen Targets
0.46Moderate
familial partial lipodystrophyOpen Targets
0.43Moderate
Abnormality of the skeletal systemOpen Targets
0.43Moderate
liver diseaseOpen Targets
0.37Weak
generalized lipodystrophyOpen Targets
0.36Weak
morbid obesityOpen Targets
0.36Weak
inherited obesityOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.31Weak
obesity due to congenital leptin deficiencyOpen Targets
0.28Weak
smoking cessationOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.27Weak
eye diseaseOpen Targets
0.26Weak
partial lipodystrophyOpen Targets
0.26Weak
Barrett's esophagusOpen Targets
0.26Weak
ovarian dysfunctionOpen Targets
0.25Weak
non-alcoholic steatohepatitisOpen Targets
0.23Weak
Insulin resistanceOpen Targets
0.21Weak
Leptin receptor deficiencyUniProt
Pathogenic Variants34
NM_002303.6(LEPR):c.995-2A>GLikely pathogenic
not provided|Early onset severe obesity
β˜…β˜…β˜†β˜†2026
NM_002303.6(LEPR):c.1835G>A (p.Arg612His)Pathogenic
LEPR-related disorder|not provided|Obesity due to leptin receptor gene deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 612
NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter)Pathogenic
Obesity due to leptin receptor gene deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 46
NM_002303.6(LEPR):c.93G>A (p.Trp31Ter)Pathogenic
not provided|LEPR-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 31
NM_002303.6(LEPR):c.2396-2A>CPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_002303.6(LEPR):c.359_360del (p.Phe120fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 120
NM_002303.6(LEPR):c.395G>A (p.Trp132Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 132
NM_002303.6(LEPR):c.1846del (p.Arg615_Leu616insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 615
NM_002303.6(LEPR):c.1986_1990del (p.Leu663fs)Pathogenic
LEPR-related disorder|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 663
NM_002303.6(LEPR):c.253dup (p.Thr85fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 85
NM_002303.6(LEPR):c.2051A>C (p.His684Pro)Likely pathogenic
not provided|LEPR-related disorder
β˜…β˜†β˜†β˜†2024β†’ Residue 684
NM_002303.6(LEPR):c.1967dup (p.Glu657fs)Likely pathogenic
Obesity due to leptin receptor gene deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 657
NM_002303.6(LEPR):c.3439dup (p.Thr1147fs)Likely pathogenic
Obesity due to leptin receptor gene deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 1147
NM_002303.6(LEPR):c.1874G>A (p.Trp625Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 625
NM_002303.6(LEPR):c.479del (p.His160fs)Pathogenic
not provided|LEPR-related disorder
β˜…β˜†β˜†β˜†2018β†’ Residue 160
NM_002303.6(LEPR):c.1226C>A (p.Ala409Glu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 409
NM_002303.6(LEPR):c.2296A>T (p.Lys766Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2018β†’ Residue 766
NM_002303.6(LEPR):c.2880C>G (p.Asn960Lys)Likely pathogenic
Obesity
β˜…β˜†β˜†β˜†2011β†’ Residue 960
NM_002303.6(LEPR):c.1752+1G>ALikely pathogenic
Obesity due to congenital leptin deficiency
β˜…β˜†β˜†β˜†
NM_002303.6(LEPR):c.1990T>A (p.Trp664Arg)Likely pathogenic
LEPR-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 664
View on ClinVar β†—
Drug Targets2
METRELEPTINApproved
Leptin receptor agonist
MIBAVADEMABPhase III
Leptin receptor agonist
generalized lipodystrophy
Related Genes
MC4RProtein interaction100%EPOProtein interaction99%IFNGProtein interaction99%THPOProtein interaction98%SNX1Protein interaction98%NPYProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Ovary
38%
Lung
27%
Bone Marrow
24%
Heart
16%
Brain
10%
Gene Interaction Network
Click a node to explore
LEPRMC4REPOIFNGTHPOSNX1NPY
PROTEIN STRUCTURE
Preparing viewer…
PDB3V6O Β· 1.95 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.47 [0.38–0.59]
RankingsWhere LEPR stands among ~20K protein-coding genes
  • #277of 20,598
    Most Researched746 Β· top 5%
  • #725of 1,025
    FDA-Approved Drug Targets1
  • #1,686of 5,498
    Most Pathogenic Variants34
  • #3,988of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedLEPR
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Placental leptin.
PMID: 10711732
Rev Reprod Β· 2000
1.00
2
Variations in the Obesity Gene "LEPR" Contribute to Risk of Type 2 Diabetes Mellitus: Evidence from a Meta-Analysis.
PMID: 27195302
J Diabetes Res Β· 2016
0.90
3
Monogenic human obesity.
PMID: 18230891
Front Horm Res Β· 2008
0.90
4
Promoter Methylation of
PMID: 33530087
Obes Facts Β· 2021
0.86
5
[Leptin--an interim evaluation].
PMID: 9586146
Wien Klin Wochenschr Β· 1998
0.84