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Symbol LEP contributors: mct/pgu - updated : 12-12-2016
HGNC name leptin
HGNC id 6553
Corresponding disease
OBS1 severe early-onset obesity
Location 7q32.1      Physical location : 127.881.330 - 127.897.682
Synonym name
  • obese, mouse, homolog of
  • obese protein
  • leptin (murine obesity homolog)
  • obesity factor
  • Synonym symbol(s) OBS, OB, FLJ94114
    TYPE functioning gene
    STRUCTURE 16.35 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D7S1943 - D7S1956 - LEP - D7S3039 - D7S2130E - qter
    Physical map
    LOC346646 7q32.2 similar to Protein C20orf45 (CGI-107) LOC168850 7q32.2 hypothetical protein LOC168850 GCC1 7q22.3 golgi coiled-coil 1 ARF5 7q31.3 ADP-ribosylation factor 5 FSCN3 7q31.3 fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) PAX4 7q32 paired box gene 4 SND1 7q31.3 paired box gene 4 NSG-X 7q31 brain and nasopharyngeal carcinoma susceptibility protein LRRC4 7q31 leucine rich repeat containing 4 LEP 7q31.3 leptin (obesity homolog, mouse) MGC27345 7q32.2 hypothetical protein MGC27345 FLJ10377 7q32.2 hypothetical protein FLJ10377 LOC389551 7 hypothetical gene supported by BC063892 IMPDH1 7q31.3-q32 IMP (inosine monophosphate) dehydrogenase 1 HIG2 7q32.2 hypoxia-inducible protein 2 METTL2 17q24.1 methyltransferase like 2 LOC389552 7 similar to Serine/threonine-protein kinase tousled-like 2 (Tousled-like kinase 2) (PKU-alpha) LOC389553 7 hypothetical gene supported by AL137733 LOC389554 7 hypothetical gene supported by BC062355 LOC392095 7 similar to capicua homolog LOC346653 7q32.2 hypothetical protein LOC346653 NYD-SP18 7q32.2-q32.3 testes development-related NYD-SP18 CALU 7q32 calumenin OPN1SW 7q31.3-q32 opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) DKFZP434G156 7q33 hypothetical protein DKFZp434G156 FLNC 7q32 filamin C, gamma (actin binding protein 280) ATP6V1F 7q32 ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F LOC389555 7 similar to Filamin C (Gamma-filamin) (Filamin 2) (Protein FLNc) (Actin-binding like protein) (ABP-L) (ABP-280-like protein) IRF5 7q32 interferon regulatory factor 5 TNPO3 7q32.3 transportin 3 LOC392096 7 similar to Triosephosphate isomerase (TIM) HCP20 7q32.3 cytochrome c, somatic pseudogene LOC286017 7q32.3 similar to mitogen-activated protein kinase kinase 2; mitogen-activated protein kinase kinase 2, p45; MAP kinase kinase 2; MAPK/ERK kinase 2; dual specificity mitogen-activated protein kinase kinase 2; ERK activator kinase 2 MGC50844 7q32.3 hypothetical protein MGC50844 LOC154981 7q32.3 hypothetical LOC154981 SMO 7q31 smoothened homolog (Drosophila) KIAA0828 7q32.3 KIAA0828 protein
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3444 16.03 167 - 1995 7499240
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systembreastmammary gland  
     female systemplacenta   
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    cell lineage
    cell lines chondrosarcoma cell lines
    at STAGE
    physiological period pregnancy
    Text placenta
    interspecies homolog to murine obese gene (ob)
  • leptin family
  • CATEGORY regulatory , signaling hormone cytokine
    text secreted by adipocytes
    basic FUNCTION
  • controlling the size of adipose depot by a profound effect of appetite and energy expenditure and regulating bone formation and bone remodeling via the sympathetic nervous system
  • involved in control of the hypothalamic-pituitary-gonadal (HPG) axis, during the development of the hypothalamus, and a neonatal critical period, preceding leptin acute regulation of food intake in adults
  • also putative angiogenic factor, playing a key role in metabolic syndrome especially in obese children
  • having proinflammatory and prothrombotic effects that could link increased adipose mass directly to atherogenesis
  • can be involved in the pathomechanism of atherosclerotic plaque formation also through its effect on cholesterol biosynthesis in monocytes
  • playing a role in blood pressure independently of obesity, and in the reproductive axis
  • acting, in part, by inhibiting the synthesis of NPY and its release from the hypothalamus
  • modulate neural activation in key striatal regions, suggesting that the hormone acts on neural circuits
  • governing food intake to diminish the perception of food reward while enhancing the response to satiety signals generated during food consumption
  • playing a role in the pathophysiological course of cholelithiasis
  • with LIF, CNTF, IL6, participate to the complex control of the reproductive function by affecting the development and function of the hypothalamus-pituitary system at different ontogenic times and anatomical sites
  • might significantly contribute to the production of major gel-forming mucins by direct stimulation of airway epithelial cells
  • by separately regulating EGR1 activation and synthesis, CCK and LEP interact cooperatively to define the capacity for satiety signaling by vagal afferent neurons
  • LEP, RETN, TNF may have differentiating roles in the pathogenesis of Systemic sclerosis (SSc)
  • GHRL, and LEP play an important role in the maintenance of the balance of IL17-producing and T-regulatory cells during pregnancy
    PHYSIOLOGICAL PROCESS behavioral , cardiovascular , digestion , ossification
    metabolism energetic
    signaling hormonal
    a component
    small molecule
  • binding to CRP and attenuating its physiological functions (contributing to leptin resistance and to increased adiposity)
  • interacting with PRKAA1 (activates PRKAA1 in skeletal muscle but inhibits PRKAA1 in the hypothalamus and may also act independently of PRKAA1, through PI3K as shown in hippocampal neurons)
  • TNF, IL6, and leptin, which have been implicated in insulin sensitivity regulation, regulate the expression of STEAP4
  • interacting with CCK and EGR1
  • GABBR1 subunit is constitutively expressed by adipocytes to primarily regulate LEP expression at the transcriptional level through a mechanism not relevant to the function as a partner of heterodimeric assembly to the functional GABBR1
  • cell & other
  • can interact with stimuli related to the visual appearance and the recent ingestion of food to modulate spontaneous eating behavior
    corresponding disease(s) OBS1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Alzheimer disease (AD) patients, and serum levels are inversely correlated to severity of dementia
    constitutional     --over  
    in placentas of preeclampsia and HELLP syndrome
  • to obesity
  • common promoter variant associated with changes in the relationship between serum leptin and fat mass in obese girls
  • Variant & Polymorphism SNP
  • 2548 G>A and others
  • obese carriers of common allelic variations had an increased risk to display extreme snacking behavior
  • Candidate gene
  • ratios of ADIPOQ/LEP and ADIPOQ/RETN constitute novel predictor factors to explain polycystic ovary syndrome (PCOS)
  • Therapy target
    leptin, and potentially PRKAA1 activators, may provide a novel therapeutic approach to AD treatment