ENSG00000116678


Homo sapiens

Features
Gene ID: ENSG00000116678
  
Biological name :LEPR
  
Synonyms : LEPR / leptin receptor / P48357
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p31.3
Gene start: 65420652
Gene end: 65641559
  
Corresponding Affymetrix probe sets: 1556919_at (Human Genome U133 Plus 2.0 Array)   1556997_a_at (Human Genome U133 Plus 2.0 Array)   207255_at (Human Genome U133 Plus 2.0 Array)   209894_at (Human Genome U133 Plus 2.0 Array)   211354_s_at (Human Genome U133 Plus 2.0 Array)   211355_x_at (Human Genome U133 Plus 2.0 Array)   211356_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000483390
Ensembl peptide - ENSP00000330393
Ensembl peptide - ENSP00000360098
Ensembl peptide - ENSP00000360099
Ensembl peptide - ENSP00000340884
Ensembl peptide - ENSP00000360097
NCBI entrez gene - 3953     See in Manteia.
OMIM - 601007
RefSeq - NM_001198687
RefSeq - NM_001003679
RefSeq - NM_001003680
RefSeq - NM_001198688
RefSeq - NM_001198689
RefSeq - NM_002303
RefSeq Peptide - NP_001003679
RefSeq Peptide - NP_001003680
RefSeq Peptide - NP_001185616
RefSeq Peptide - NP_001185617
RefSeq Peptide - NP_001185618
RefSeq Peptide - NP_002294
swissprot - P48357
Ensembl - ENSG00000116678
  
Related genetic diseases (OMIM): 614963 - Obesity, morbid, due to leptin receptor deficiency, 614963
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 leprENSDARG00000070961Danio rerio
 LEPRENSGALG00000011058Gallus gallus
 LeprENSMUSG00000057722Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003529  Long hematopoietin receptor, Gp130 family 2, conserved site
 IPR003531  Short hematopoietin receptor, family 1, conserved site
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR010457  Immunoglobulin C2-set-like, ligand-binding
 IPR013783  Immunoglobulin-like fold
 IPR015752  Leptin receptor
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IMP
 biological_processGO:0006112 energy reserve metabolic process TAS
 biological_processGO:0006909 phagocytosis IEA
 biological_processGO:0007166 cell surface receptor signaling pathway TAS
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0010507 negative regulation of autophagy IDA
 biological_processGO:0019953 sexual reproduction ISS
 biological_processGO:0030217 T cell differentiation ISS
 biological_processGO:0033210 leptin-mediated signaling pathway ISS
 biological_processGO:0042593 glucose homeostasis ISS
 biological_processGO:0044321 response to leptin ISS
 biological_processGO:0045721 negative regulation of gluconeogenesis IEA
 biological_processGO:0046850 regulation of bone remodeling ISS
 biological_processGO:0051346 negative regulation of hydrolase activity IEA
 biological_processGO:0060259 regulation of feeding behavior ISS
 biological_processGO:0097009 energy homeostasis ISS
 biological_processGO:0098868 bone growth ISS
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0043235 receptor complex IDA
 molecular_functionGO:0004888 transmembrane signaling receptor activity TAS
 molecular_functionGO:0004896 cytokine receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0038021 leptin receptor activity ISS
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000712 Emotional lability 
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000771 Gynecomastia 
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 HP:0000786 Primary amenorrhea 
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 HP:0000815 Hypergonadotropic hypogonadism "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators]
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 HP:0000823 Delayed puberty 
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 HP:0000824 Growth hormone deficiency "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators]
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 HP:0000831 Insulin-resistant diabetes mellitus 
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 HP:0000842 Hyperinsulinemia 
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 HP:0001513 Obesity "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765]
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 HP:0002155 Hypertriglyceridemia 
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 HP:0002591 Polyphagia 
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 HP:0002788 Recurrent upper respiratory tract infections 
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 HP:0002958 Immune dysregulation 
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 HP:0003292 Decreased serum leptin 
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 HP:0004926 Orthostatic hypotension due to autonomic dysfunction 
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 HP:0005407 Decreased number of CD4+ T cells 
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 HP:0005419 Decreased T cell activation 
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 HP:0005616 Accelerated skeletal maturation "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0008187 Absence of secondary sex characteristics 
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 HP:0008214 Decreased serum estradiol 
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 HP:0008230 Decreased testosterone in males 
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 HP:0008245 Tsh deficient hypothyroidism 
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 HP:0008724 Hypoplastic ovary 
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 HP:0008734 Decreased testicular size 
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 HP:0012286 Abnormal hypothalamus morphology "Any structural anomaly of the `hypothalamus` (FMA:62008)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000168610 STAT3 / P40763 / signal transducer and activator of transcription 3  / complex / reaction
 ENSG00000174697 LEP / leptin / P41159  / reaction / complex
 ENSG00000169047 IRS1 / P35568 / insulin receptor substrate 1  / complex / reaction
 ENSG00000184557 SOCS3 / O14543 / suppressor of cytokine signaling 3  / reaction / complex
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / reaction / complex
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / reaction / complex
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / reaction / complex
 ENSG00000178188 SH2B1 / Q9NRF2 / SH2B adaptor protein 1  / complex / reaction
 ENSG00000116678 LEPR / P48357 / leptin receptor  / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex






 

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