LEPR

Gene Information
 
Gene Symbol
LEPR
 
Aliases
CD295, LEP-RD, OB-R, OBR, LEPR
 
Entrez Gene ID
 
Gene Name
Leptin receptor
 
Chromosomal Location
1p31
 
HGNC ID
 
Summary
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)
 
GeneCards ID
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0006112 Biological process Energy reserve metabolic process TAS 9537324
GO:0007166 Biological process Cell surface receptor signaling pathway TAS 9537324
GO:0007275 Biological process Multicellular organismal development TAS 9537324
GO:0004888 Molecular function Transmembrane signaling receptor activity TAS 9537324
GO:0005515 Molecular function Protein binding IPI 11279102
Protein Information
 
Protein Name
Leptin receptor
 
Function
Receptor for obesity factor (leptin). On ligand binding, mediates signaling through JAK2/STAT3. Involved in the regulation of fat metabolism and, in a hematopoietic pathway, required for normal lymphopoiesis. May play a role in reproduction. Can also mediate the ERK/FOS signaling pathway (By similarity)
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF06328 Lep_receptor_Ig Ig-like C2-type domain
 
KEGG
 
OMIM

Associated Diseases

Diseases References
Amenorrhoea and oligomenorrhoea 16350721
Anovulation 17828512
Diabetes mellitus type 2 16350721
Hirsutism 16350721
Hyperandrogenism 16350721
   
References
 
Primary:

Association of serum and follicular fluid leptin concentrations with granulosa cell phosphorylated signal transducer and activator of transcription 3 expression in fertile patients with polycystic ovarian syndrome.

Li Mei-Gen, Ding Guo-Lian, Chen Xi-Jing, Lu Xi-Ping, Dong Li-Jun, Dong Min-Yue, Yang Xiao-Fu, Lu Xiu-E, Huang He-Feng
Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, 2 Xue Shi Road, Hangzhou, Zhejiang, 31006, China.
J Clin Endocrinol Metab. 2007 Dec;92(12):4771-6. Epub 2007 Sep 25.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
p-STAT3 and SOCS3 
Infertility 
 
Rotterdam criteria 
Related 
 
Hyperleptinemia and high FF leptin are important pathologies of PCOS with infertility. 
 
Anovulation 
 
 
Direct 
 
It is concluded that in obese PCOS women, the level of serum leptin is increased, which promotes the expression of OB-R(L) in luteinized granulosa cells and increases the sensitivity of the granulosa cells to leptin. Leptin may contribute to anovulation in obese women with PCOS. 
 
PCOS 
Gln223Arg and Pro1019Pro 
 
Related 
Korean population 
Moreover, genotype combination and haplotype analyses indicate that Gln223Arg and Pro1019Pro polymorphisms of LEPR are significantly associated with the risk of PCOS. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26180527, PMC4477211
Leptin as well as Free Leptin Receptor Is Associated with Polycystic Ovary Syndrome in Young Women. 
Clinical study 
25716963
Superactive human leptin antagonist reverses leptin-induced excessive progesterone and testosterone secretion in porcine ovarian follicles by blocking leptin receptors. 
Animal study 
25450293
Leptin down-regulates ??-ENaC expression: a novel mechanism involved in low endometrial receptivity. 
In vitro 
24829217
Prenatal androgen excess enhances stimulation of the GNRH pulse in pubertal female rats. 
Animal study 
23119079, PMC3485364
Adipocyte dysfunction in a mouse model of polycystic ovary syndrome (PCOS): evidence of adipocyte hypertrophy and tissue-specific inflammation. 
Clinical study 

 

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