LEPR Chromosome 1
Leptin receptor
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What This Gene Does
The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
Gene Info
Gene Group
"CD molecules|Immunoglobulin like domain containing"
Locus Type
gene with protein product
Location
1p31.3
Ensembl
ENSG00000116678
Associated Conditions (9)
Obesity due to leptin receptor gene deficiency
Monogenic diabetes
Inborn genetic diseases
LEPR-related disorder
Early onset severe obesity
Sarcoma
Uterine corpus endometrial carcinoma
Obesity
Obesity due to congenital leptin deficiency
Key Variants
RS1253993053
Conflicting classifications of pathogenicity
Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
Health Risk
RS13306528
Conflicting classifications of pathogenicity
Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
Health Risk
RS140347630
Conflicting classifications of pathogenicity
Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency
Health Risk
RS142143966
Conflicting classifications of pathogenicity
Monogenic diabetes, Inborn genetic diseases, Obesity due to leptin receptor gene deficiency
Health Risk
RS142647085
Conflicting classifications of pathogenicity
Obesity due to leptin receptor gene deficiency, Monogenic diabetes, Early onset severe obesity
Health Risk
RS145651189
Conflicting classifications of pathogenicity
Monogenic diabetes, Early onset severe obesity, Monogenic diabetes
Health Risk
RS145668112
Conflicting classifications of pathogenicity
Obesity due to leptin receptor gene deficiency, LEPR-related disorder, Obesity due to leptin receptor gene deficiency
Health Risk
RS145685060
Conflicting classifications of pathogenicity
Monogenic diabetes, LEPR-related disorder, Monogenic diabetes
Health Risk
RS147768538
Conflicting classifications of pathogenicity
Obesity due to leptin receptor gene deficiency, LEPR-related disorder, Obesity due to leptin receptor gene deficiency
Health Risk
RS149329546
Conflicting classifications of pathogenicity
Monogenic diabetes, LEPR-related disorder, Monogenic diabetes
Health Risk
RS150936702
Conflicting classifications of pathogenicity
Obesity due to leptin receptor gene deficiency, LEPR-related disorder, Obesity due to leptin receptor gene deficiency
Health Risk
RS151190195
Conflicting classifications of pathogenicity
Inborn genetic diseases, LEPR-related disorder, Inborn genetic diseases
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1253993053 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS13306528 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS140347630 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS142143966 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Inborn genetic diseases, Obesity due to leptin receptor gene deficiency |
| RS142647085 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, Monogenic diabetes, Early onset severe obesity |
| RS145651189 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Early onset severe obesity, Monogenic diabetes |
| RS145668112 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, LEPR-related disorder, Obesity due to leptin receptor gene deficiency |
| RS145685060 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, LEPR-related disorder, Monogenic diabetes |
| RS147768538 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, LEPR-related disorder, Obesity due to leptin receptor gene deficiency |
| RS149329546 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, LEPR-related disorder, Monogenic diabetes |
| RS150936702 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, LEPR-related disorder, Obesity due to leptin receptor gene deficiency |
| RS151190195 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, LEPR-related disorder, Inborn genetic diseases |
| RS183714647 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS34130975 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS35573508 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, Monogenic diabetes, Sarcoma |
| RS371233505 | Health Risk | Conflicting classifications of pathogenicity | LEPR-related disorder, Obesity due to leptin receptor gene deficiency, LEPR-related disorder |
| RS375934938 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, Inborn genetic diseases, LEPR-related disorder |
| RS531183918 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, LEPR-related disorder, Obesity due to leptin receptor gene deficiency |
| RS532294036 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS548848340 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, LEPR-related disorder, Inborn genetic diseases |
| RS563763692 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS61781316 | Health Risk | Conflicting classifications of pathogenicity | Obesity, Obesity due to leptin receptor gene deficiency, LEPR-related disorder |
| RS753573139 | Health Risk | Conflicting classifications of pathogenicity | Obesity due to leptin receptor gene deficiency, LEPR-related disorder, Obesity due to leptin receptor gene deficiency |
| RS759925647 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767404055 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1446132233 | Health Risk | Likely pathogenic | — |
| RS193922650 | Health Risk | Likely pathogenic | Obesity, Obesity |
| RS2100932956 | Health Risk | Likely pathogenic | Early onset severe obesity, Early onset severe obesity |
| RS866641122 | Health Risk | Likely pathogenic | Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency |
| RS1469336975 | Health Risk | Pathogenic | LEPR-related disorder, LEPR-related disorder |
| RS1474810899 | Health Risk | Pathogenic | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS1553174844 | Health Risk | Pathogenic | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS1557670950 | Health Risk | Pathogenic | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |
| RS1557670990 | Health Risk | Pathogenic | LEPR-related disorder, LEPR-related disorder |
| RS2526436760 | Health Risk | Pathogenic | — |
| RS2526767220 | Health Risk | Pathogenic | — |
| RS765551290 | Health Risk | Pathogenic | — |
| RS945135468 | Health Risk | Pathogenic | LEPR-related disorder, LEPR-related disorder |
| RS144159890 | Health Risk | Pathogenic/Likely pathogenic | LEPR-related disorder, Obesity due to leptin receptor gene deficiency, LEPR-related disorder |
| RS757358893 | Health Risk | Pathogenic/Likely pathogenic | Obesity due to leptin receptor gene deficiency, Obesity due to leptin receptor gene deficiency |