LEP Chromosome 7
Leptin
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What This Gene Does
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]
Gene Info
Gene Group
Neuropeptides
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000174697
Associated Conditions (4)
Obesity due to congenital leptin deficiency
LEP-related disorder
Early onset severe obesity
Leptin dysfunction
Key Variants
RS138908051
Conflicting classifications of pathogenicity
Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency
Health Risk
RS148407750
Conflicting classifications of pathogenicity
Obesity due to congenital leptin deficiency, LEP-related disorder, Obesity due to congenital leptin deficiency
Health Risk
RS201523305
Conflicting classifications of pathogenicity
Obesity due to congenital leptin deficiency, LEP-related disorder, Obesity due to congenital leptin deficiency
Health Risk
RS62481073
Conflicting classifications of pathogenicity
Obesity due to congenital leptin deficiency, Early onset severe obesity, Obesity due to congenital leptin deficiency
Health Risk
RS1554394014
Likely pathogenic
Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency
Health Risk
RS28954113
Likely pathogenic
LEP-related disorder, LEP-related disorder
Health Risk
RS104894023
Pathogenic
Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency
Health Risk
RS200575914
Pathogenic
Leptin dysfunction, Obesity due to congenital leptin deficiency, Leptin dysfunction
Health Risk
RS2116222206
Pathogenic
Health Risk
RS2485445933
Pathogenic
Leptin dysfunction, Obesity due to congenital leptin deficiency, Leptin dysfunction
Health Risk
RS724159998
Pathogenic
Leptin dysfunction, Leptin dysfunction
Health Risk
RS771139087
Pathogenic
Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138908051 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency |
| RS148407750 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to congenital leptin deficiency, LEP-related disorder, Obesity due to congenital leptin deficiency |
| RS201523305 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to congenital leptin deficiency, LEP-related disorder, Obesity due to congenital leptin deficiency |
| RS62481073 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to congenital leptin deficiency, Early onset severe obesity, Obesity due to congenital leptin deficiency |
| RS1554394014 | Health Risk | Likely pathogenic | Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency |
| RS28954113 | Health Risk | Likely pathogenic | LEP-related disorder, LEP-related disorder |
| RS104894023 | Health Risk | Pathogenic | Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency |
| RS200575914 | Health Risk | Pathogenic | Leptin dysfunction, Obesity due to congenital leptin deficiency, Leptin dysfunction |
| RS2116222206 | Health Risk | Pathogenic | — |
| RS2485445933 | Health Risk | Pathogenic | Leptin dysfunction, Obesity due to congenital leptin deficiency, Leptin dysfunction |
| RS724159998 | Health Risk | Pathogenic | Leptin dysfunction, Leptin dysfunction |
| RS771139087 | Health Risk | Pathogenic | Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency |