AlphaFold predicted structure
LEPR · P48357

Mean pLDDT
66.0/ 100
Low
1,165 residues
Confidence breakdown
- Very high(≥ 90)21%
- Confident(70–90)37%
- Low(50–70)10%
- Very low(< 50)33%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
leptin receptor
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Hypogonadotropic hypogonadism (GMS)
BIALLELIC, autosomal or pseudoautosomalSevere early-onset obesity
BIALLELIC, autosomal or pseudoautosomalobesity due to leptin receptor gene deficiency
lipodystrophy
type 2 diabetes mellitus
obesity disorder
diabetes mellitus
Abnormality of the skeletal system
familial partial lipodystrophy
liver disorder
Obesity
generalized lipodystrophy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Leptin receptor
Receptor for hormone LEP/leptin (Probable) (PubMed:22405007). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP 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 (By similarity) (PubMed:9537324). In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic and affects innate and adaptive immunity (PubMed:12504075, PubMed:25060689, PubMed:8805376). Control of energy homeostasis and melanocortin production (stimulation of POMC and full repression of AgRP transcription) is mediated by STAT3 signaling, whereas distinct signals regulate NPY and the control of fertility, growth and glucose homeostasis. Involved in the regulation of counter-regulatory response to hypoglycemia by inhibiting neurons of the parabrachial nucleus. Has a specific effect on T lymphocyte responses, differentially regulating the proliferation of naive and memory T -ells. Leptin increases Th1 and suppresses Th2 cytokine production (By similarity)
Curated MONDO disease pages that list LEPR among their top associated genes.
LEPR · P48357

Mean pLDDT
66.0/ 100
Low
1,165 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0