Gene Information
Gene Symbol
Entrez Gene ID
Gene Name
Chromosomal Location
This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]
RefSeq DNA
RefSeq mRNA

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001525 Biological process Angiogenesis IDA 19910644, 21771332
GO:0001890 Biological process Placenta development IDA 17957153
GO:0001936 Biological process Regulation of endothelial cell proliferation IDA 11460888
GO:0006112 Biological process Energy reserve metabolic process IBA 21873635
GO:0006629 Biological process Lipid metabolic process IBA 21873635
Protein Information
Protein Name
Leptin, leptin (murine obesity homolog), leptin (obesity homolog, mouse), obese protein, obese, mouse, homolog of, obesity factor
Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways (PubMed:17344214, PubMed:15899045, PubMed:19688109). In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic for endothelial cell and affects innate and adaptive immunity (By similarity) (PubMed:8589726, PubMed:11460888, PubMed:19688109, PubMed:24340098, PubMed:25060689). In the arcuate nucleus of the hypothalamus, activates by depolarization POMC neurons inducing FOS and SOCS3 expression to release anorexigenic peptides and inhibits by hyperpolarization NPY neurons inducing SOCS3 with a consequent reduction on release of orexigenic peptides (By similarity). In addition to its known satiety inducing effect, has a modulatory role in nutrient absorption. In the intestine, reduces glucose absorption by enterocytes by activating PKC and leading to a sequential activation of p38, PI3K and ERK signaling pathways which exerts an inhibitory effect on glucose absorption (PubMed:24340098). Acts as a growth factor on certain tissues, through the activation of different signaling pathways increases expression of genes involved in cell cycle regulation such as CCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1 pathways (By similarity) (PubMed:17344214). May also play an apoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5 expression (PubMed:18242580). Pro-angiogenic, has mitogenic activity on vascular endothelial cells and plays a role in matrix remodeling by regulating the expression of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) (PubMed:11460888). In innate immunity, modulates the activity and function of neutrophils by increasing chemotaxis and the secretion of oxygen radicals. Increases phagocytosis by macrophages and enhances secretion of pro-inflammatory mediators. Increases cytotoxic ability of NK cells (PubMed:12504075). Plays a pro-inflammatory role, in synergy with IL1B, by inducing NOS2 wich promotes the production of IL6, IL8 and Prostaglandin E2, through a signaling pathway that involves JAK2, PI3K, MAP2K1/MEK1 and MAPK14/p38 (PubMed:15899045, PubMed:19688109). In adaptive immunity, promotes the switch of memory T-cells towards T helper-1 cell immune responses (By similarity). Increases CD4(+)CD25(-) T-cell proliferation and reduces autophagy during TCR (T-cell receptor) stimulation, through MTOR signaling pathway activation and BCL2 up-regulation (PubMed:25060689).
Refseq Proteins
Pfam Accession Pfam ID
PF02024 Leptin

Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
AMPK signaling pathway
JAK-STAT signaling pathway
Adipocytokine signaling pathway
Non-alcoholic fatty liver disease (NAFLD)


Transcriptional regulation of white adipocyte differentiation
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Synthesis, secretion, and deacylation of Ghrelin

ENSP00000249075 P15018 P15018
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Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Hypertensive disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Atonic seizures
Digestive System Diseases
Gastric ulcer
Fatty Liver
Non-alcoholic Fatty Liver Disease
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
34 PCOS women, 30 controls 
The results of this study showed that serum leptin levels in a subgroup of overweight women with PCOS and insulin resistance were higher than those expected for their BMI, and therefore leptin might interfere in the pathogenesis of PCOS 
20 eumenorrheic controls (10 lean [group A] and 10 overweight [group B]) and 24 PCOS women (14 lean [group C] and 10 overweight [group D]) 
Leptin was lower in the lean groups as compared to the overweight group 
Ghrelin, testosterone, immune-reactive insulin (IRI), sex hormone-binding globulin, dehydroepiandrosterone sulfate, cortisol, LH and FSH 
45 women with PCOS and 20 controls 
Serum leptin levels have a strong correlation with clinical and hormonal indices of IR 
Ghrelin, testosterone, immune-reactive insulin (IRI), sex hormone-binding globulin, cortisol, luteinizing hormone and follicle-stimulating hormone 
45 PCOS, 20 controls 
The ghrelin level in women with PCOS reflects the metabolic and hormonal changes which are characteristics of the syndrome. The inverse correlation between ghrelin and leptin in these women is mediated through metabolic factors. 
Serum visfatin, adiponectin, sex hormone levels 
73 PCOS patients, 75 controls 
Patients withPCOS have high visfatin and leptin levels but low adiponectin levels 

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