LEP (Leptin) Gene
Adipokine Regulating Energy Homeostasis and Neuroendocrine Function
Gene Information Card
| Symbol | LEP |
|---|---|
| Full Name | Leptin |
| Gene Type | protein-coding |
| Chromosomal Location | 7q32.1 |
| NCBI Gene ID | 3952 ncbi.nlm.nih.gov/gene/3952 |
| Ensembl ID | ENSG00000174697 |
| UniProt ID | P41159 |
| OMIM ID | 164160 |
| HGNC ID | 6553 |
| Aliases | OB, OBS, leptin |
Description
The LEP gene encodes leptin, a 16-kDa adipokine predominantly secreted by white adipose tissue. Leptin acts on the hypothalamus to regulate appetite, energy expenditure, and neuroendocrine function. It plays a critical role in body weight homeostasis, immune response, and reproduction. Mutations in LEP cause congenital leptin deficiency, a rare autosomal recessive disorder characterized by severe early-onset obesity and hypogonadotropic hypogonadism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital leptin deficiency | Loss-of-function mutations in LEP disrupt leptin signaling, leading to hyperphagia and severe obesity | OMIM #614962; multiple homozygous frameshift and missense mutations reported |
| Obesity (common) | Polymorphisms in LEP are associated with altered leptin levels and increased obesity risk | ClinVar; GWAS studies |
| Hypogonadotropic hypogonadism | Leptin deficiency impairs GnRH secretion, resulting in delayed puberty and infertility | OMIM #614962; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | High |
| Hypothalamus | 0.3 | Low |
| Placenta | 1.2 | Medium |
| Stomach | 0.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adipocytes | 12.5 | Primary cell type |
| HepG2 | 0.1 | Hepatocellular carcinoma cell line |
| MCF7 | 0.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.398delG | Frameshift deletion | Rare | Loss of function; leads to congenital leptin deficiency |
| c.313C>T (p.Arg105Trp) | Missense | Rare | Loss of function; impaired secretion and receptor binding |
| c.49C>T (p.Arg17Ter) | Nonsense | Rare | Premature stop; complete loss of protein |
Mutation functional classification
Loss of Function (LOF)
Homozygous or compound heterozygous loss-of-function mutations cause congenital leptin deficiency with severe obesity.
Gain of Function (GOF)
Not reported for LEP.
Dominant Negative (DN)
Not reported for LEP.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Leptin signaling pathway (KEGG hsa04920)
• Adipocytokine signaling pathway (KEGG hsa04920)
• Neurotrophin signaling pathway (Reactome R-HSA-166520)
Protein Summary
Leptin is a 167-amino acid protein (mature form 146 aa) with a four-helix bundle structure. It is secreted primarily by adipocytes and circulates in proportion to body fat mass. Leptin binds to the leptin receptor (LEPR) in the hypothalamus, activating JAK/STAT signaling to suppress appetite and increase energy expenditure. It also modulates immune function, bone metabolism, and reproductive axis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LEP Knockout HEK293 Cell Line | EDJ-KQ506 | Human | 3952 | Details Get a Quote |
| LEPR Knockout HEK293 Cell Line | EDJ-KQ507 | Human | 3953 | Details Get a Quote |
| LEPROTL1 Knockout HEK293 Cell Line | EDJ-KQ7355 | Human | 23484 | Details Get a Quote |
| LEPROT Knockout HEK293 Cell Line | EDJ-KQ12000 | Human | 54741 | Details Get a Quote |
| LEPR Knockout A-549 Cell Line | EDJ-KQ18828 | Human | 3953 | Details Get a Quote |
| LEPR Knockout HCT 116 Cell Line | EDJ-KQ18829 | Human | 3953 | Details Get a Quote |
| LEPR Knockout HeLa Cell Line | EDJ-KQ18830 | Human | 3953 | Details Get a Quote |
| LEPROTL1 Knockout A-549 Cell Line | EDJ-KQ33803 | Human | 23484 | Details Get a Quote |
| LEPROTL1 Knockout HCT 116 Cell Line | EDJ-KQ33804 | Human | 23484 | Details Get a Quote |
| LEPROTL1 Knockout HeLa Cell Line | EDJ-KQ33805 | Human | 23484 | Details Get a Quote |
| LEPROT Knockout A-549 Cell Line | EDJ-KQ40579 | Human | 54741 | Details Get a Quote |
| LEPROT Knockout HCT 116 Cell Line | EDJ-KQ40580 | Human | 54741 | Details Get a Quote |
| LEPROT Knockout HeLa Cell Line | EDJ-KQ40581 | Human | 54741 | Details Get a Quote |
| LEP Knockout HeLa Cell Line | EDJ-KQ53787 | Human | 3952 | Details Get a Quote |
| LEP Knockout A-549 Cell Line | EDJ-KQ62265 | Human | 3952 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
