ENSG00000174697


Homo sapiens

Features
Gene ID: ENSG00000174697
  
Biological name :LEP
  
Synonyms : LEP / leptin / P41159
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q32.1
Gene start: 128241284
Gene end: 128257628
  
Corresponding Affymetrix probe sets: 207092_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000312652
NCBI entrez gene - 3952     See in Manteia.
OMIM - 164160
RefSeq - XM_005250340
RefSeq - NM_000230
RefSeq Peptide - NP_000221
swissprot - P41159
swissprot - A4D0Y8
Ensembl - ENSG00000174697
  
Related genetic diseases (OMIM): 614962 - Obesity, morbid, due to leptin deficiency, 614962
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
 LepENSMUSG00000059201Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000065  Leptin
 IPR009079  Four-helical cytokine-like, core


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001525 angiogenesis IDA
 biological_processGO:0001542 ovulation from ovarian follicle IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001819 positive regulation of cytokine production IEA
 biological_processGO:0001890 placenta development IDA
 biological_processGO:0001932 regulation of protein phosphorylation IEA
 biological_processGO:0001936 regulation of endothelial cell proliferation IDA
 biological_processGO:0002021 response to dietary excess IEA
 biological_processGO:0003300 cardiac muscle hypertrophy IEA
 biological_processGO:0006006 glucose metabolic process IEA
 biological_processGO:0006111 regulation of gluconeogenesis IEA
 biological_processGO:0006112 energy reserve metabolic process IBA
 biological_processGO:0006114 glycerol biosynthetic process IEA
 biological_processGO:0006629 lipid metabolic process IBA
 biological_processGO:0006635 fatty acid beta-oxidation IEA
 biological_processGO:0006909 phagocytosis IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007260 tyrosine phosphorylation of STAT protein IBA
 biological_processGO:0007565 female pregnancy IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0008206 bile acid metabolic process IEA
 biological_processGO:0008217 regulation of blood pressure IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008343 adult feeding behavior ISS
 biological_processGO:0009062 fatty acid catabolic process IEA
 biological_processGO:0009892 negative regulation of metabolic process IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010507 negative regulation of autophagy IDA
 biological_processGO:0010888 negative regulation of lipid storage IEA
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling ISS
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0019222 regulation of metabolic process IEA
 biological_processGO:0019953 sexual reproduction IMP
 biological_processGO:0021954 central nervous system neuron development IEA
 biological_processGO:0030073 insulin secretion IEA
 biological_processGO:0030217 T cell differentiation ISS
 biological_processGO:0030300 regulation of intestinal cholesterol absorption IEA
 biological_processGO:0031667 response to nutrient levels IEA
 biological_processGO:0032008 positive regulation of TOR signaling IDA
 biological_processGO:0032099 negative regulation of appetite ISS
 biological_processGO:0032310 prostaglandin secretion IDA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0032615 interleukin-12 production IEA
 biological_processGO:0032635 interleukin-6 production IEA
 biological_processGO:0032760 positive regulation of tumor necrosis factor production IEA
 biological_processGO:0032814 regulation of natural killer cell activation IDA
 biological_processGO:0032817 regulation of natural killer cell proliferation IDA
 biological_processGO:0032868 response to insulin IBA
 biological_processGO:0033197 response to vitamin E IEA
 biological_processGO:0033210 leptin-mediated signaling pathway ISS
 biological_processGO:0033686 positive regulation of luteinizing hormone secretion IEA
 biological_processGO:0035360 positive regulation of peroxisome proliferator activated receptor signaling pathway IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0035630 bone mineralization involved in bone maturation IEA
 biological_processGO:0038108 negative regulation of appetite by leptin-mediated signaling pathway IBA
 biological_processGO:0042102 positive regulation of T cell proliferation IDA
 biological_processGO:0042269 regulation of natural killer cell mediated cytotoxicity IDA
 biological_processGO:0042307 positive regulation of protein import into nucleus IEA
 biological_processGO:0042445 hormone metabolic process IEA
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IEA
 biological_processGO:0042593 glucose homeostasis IEA
 biological_processGO:0042755 eating behavior IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043270 positive regulation of ion transport IEA
 biological_processGO:0043410 positive regulation of MAPK cascade ISS
 biological_processGO:0044320 cellular response to leptin stimulus IDA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045598 regulation of fat cell differentiation IEA
 biological_processGO:0045765 regulation of angiogenesis IDA
 biological_processGO:0045906 negative regulation of vasoconstriction IEA
 biological_processGO:0046325 negative regulation of glucose import IDA
 biological_processGO:0046427 positive regulation of JAK-STAT cascade IDA
 biological_processGO:0046628 positive regulation of insulin receptor signaling pathway IEA
 biological_processGO:0046850 regulation of bone remodeling ISS
 biological_processGO:0046881 positive regulation of follicle-stimulating hormone secretion IEA
 biological_processGO:0048639 positive regulation of developmental growth IDA
 biological_processGO:0050796 regulation of insulin secretion IEA
 biological_processGO:0050810 regulation of steroid biosynthetic process IEA
 biological_processGO:0050892 intestinal absorption IDA
 biological_processGO:0050901 leukocyte tethering or rolling IEA
 biological_processGO:0050999 regulation of nitric-oxide synthase activity IDA
 biological_processGO:0051726 regulation of cell cycle IDA
 biological_processGO:0051897 positive regulation of protein kinase B signaling ISS
 biological_processGO:0060587 regulation of lipoprotein lipid oxidation IEA
 biological_processGO:0060612 adipose tissue development IEA
 biological_processGO:0061037 negative regulation of cartilage development IEA
 biological_processGO:0070093 negative regulation of glucagon secretion IEA
 biological_processGO:0071298 cellular response to L-ascorbic acid IEA
 biological_processGO:0071300 cellular response to retinoic acid IEA
 biological_processGO:0072604 interleukin-6 secretion IDA
 biological_processGO:0072606 interleukin-8 secretion IDA
 biological_processGO:0090335 regulation of brown fat cell differentiation ISS
 biological_processGO:0098868 bone growth ISS
 biological_processGO:1900015 regulation of cytokine production involved in inflammatory response IDA
 biological_processGO:1900180 regulation of protein localization to nucleus IEA
 biological_processGO:1900745 positive regulation of p38MAPK cascade IDA
 biological_processGO:1904651 positive regulation of fat cell apoptotic process IEA
 biological_processGO:1990051 activation of protein kinase C activity IDA
 biological_processGO:2000379 positive regulation of reactive oxygen species metabolic process IEA
 biological_processGO:2000486 negative regulation of glutamine transport IEA
 biological_processGO:2000491 positive regulation of hepatic stellate cell activation IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space ISS
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005179 hormone activity IBA
 molecular_functionGO:0051428 peptide hormone receptor binding IBA


Pathways (from Reactome)
Pathway description
Signaling by Leptin
Transcriptional regulation of white adipocyte differentiation
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
Synthesis, secretion, and deacylation of Ghrelin


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000054 Micropenis 
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 HP:0000135 Hypogonadism "Reduced function of the gonads (testes in males or ovaries in females)." [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: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: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:0006532 Pneumonia, recurrent episodes 
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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:0100738 Eating disorders 
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 HP:0410018 Recurrent ear infections "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections." [orcid.org/0000-0001-5208-3432]
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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
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / reaction / complex
 ENSG00000169047 IRS1 / P35568 / insulin receptor substrate 1  / reaction / complex
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / complex / reaction
 ENSG00000116678 LEPR / P48357 / leptin receptor  / complex / reaction
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / reaction / complex
 ENSG00000178188 SH2B1 / Q9NRF2 / SH2B adaptor protein 1  / complex / reaction
 ENSG00000174697 LEP / leptin / P41159  / complex / reaction
 ENSG00000184557 SOCS3 / O14543 / suppressor of cytokine signaling 3  / complex / reaction






 

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