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LEPR Gene

protein-coding   GIFtS: 66
GCID: GC01P065886

Leptin Receptor

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Leptin Receptor1 2     CD2952
OBR2 3 5     huB2192
LEP-R2 3     DB3
OB-R2 3     HuB2193
OB Receptor2 3     CD295 Antigen3
LEPRD2 5     

External Ids:    HGNC: 65541   Entrez Gene: 39532   Ensembl: ENSG000001166787   OMIM: 6010075   UniProtKB: P483573   

Export aliases for LEPR gene to outside databases

Previous GC identifers: GC01P065838 GC01P064841 GC01P065244 GC01P065257 GC01P065258 GC01P065599 GC01P065603 GC01P065659 GC01P063995


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LEPR Gene:
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 Summary for LEPR Gene:
LEPR (leptin receptor) is a protein-coding gene. Diseases associated with LEPR include leptin receptor deficiency, and lipoblastoma. GO annotations related to this gene include cytokine receptor activity and identical protein binding.

UniProtKB/Swiss-Prot: LEPR_HUMAN, P48357
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)

summary for LEPR Gene:
Leptin was initially thought to have a role in energy homeostasis and obesity. More recently, it has also
been implicated in the regulation of reproduction, glucose homeostasis, bone formation, wound healing and
the immune system. Leptin acts via leptin receptors, which are transmembrane catalytic receptors found on
NPY/AgRP and alpha-MSH/CART neurons in hypothalamic nuclei. Leptin receptors (Ob-Rs) are coded for by one
human gene that produces six different isoforms; Ob-Ra - Ob-Rf. Ob-Rs exist as constitutive dimers at
physiological expression levels. Only the Ob-Rb isoform can transduce intracellular signals and does so
through activation of the JAK2/STAT3, PI 3-K and MAPK signaling cascades. Activation of Ob-Rs mediates
transcriptional regulation of the hypothalamic melanocortin pathway and downregulates endocannabinoid
expression. Leptin resistance has been proposed as a pathophysiological mechanism of obesity. In obese
individuals, Ob-Ra (which is involved in active transport of leptin across the blood-brain barrier)
expression is downregulated and the individual may be unresponsive to leptin signals. Ob-R antagonists are
of great interest in the development of pharmacological treatments for obesity.

Gene Wiki entry for LEPR (Leptin receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the LEPR gene promoter:
         AP-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLEPR promoter sequence
   Search Chromatin IP Primers for LEPR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LEPR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p31   Ensembl cytogenetic band:  1p31.3   HGNC cytogenetic band: 1p31

LEPR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LEPR gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P065886:  view genomic region     (about GC identifiers)

Start:
65,886,248 bp from pter      End:
66,107,242 bp from pter
Size:
220,995 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LEPR_HUMAN, P48357 (See protein sequence)
Recommended Name: Leptin receptor precursor  
Size: 1165 amino acids; 132494 Da
Subunit: On leptin stimulation, homodimerizes. The phosphorylated receptor binds a number of SH2 domain-containing
proteins such as STAT3, PTPN11, and SOCS3 (By similarity). Interaction with SOCS3 inhibits LRb signaling (By
similarity)
1 PDB 3D structure from and Proteopedia for LEPR:
3V6O (3D)    
Secondary accessions: Q13592 Q13593 Q13594 Q92919 Q92920 Q92921
Alternative splicing: 5 isoforms:  P48357-1   P48357-2   P48357-3   P48357-4   P48357-5   

Explore the universe of human proteins at neXtProt for LEPR: NX_P48357

Explore proteomics data for LEPR at MOPED

Post-translational modifications: 

  • On ligand binding, phosphorylated on two conserved C-terminal tyrosine residues (isoform B only) by JAK2. Tyr-986
    is required for complete binding and activation of PTPN11, ERK/FOS activation and, for interaction with SOCS3 (By
    similarity). Phosphorylation on Tyr-1141 is required for STAT3 binding/activation1
  • Glycosylation2 at Asn23, Asn41, Asn56, Asn73, Asn81, Asn98, Asn187, Asn206, Asn276, Asn347,
                                 Asn397, Asn516, Asn624, Asn659, Asn688, Asn697, Asn728, Asn750
  • Modification sites at PhosphoSitePlus

  • See LEPR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001003679.1  NP_001003680.1  NP_001185616.1  NP_001185617.1  NP_001185618.1  NP_002294.2  

    ENSEMBL proteins: 
     ENSP00000360098   ENSP00000360099   ENSP00000330393   ENSP00000360097   ENSP00000340884  
     ENSP00000384025  

    LEPR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for LEPR (Leptin R)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for LEPR
    OriGene Custom MassSpec
    OriGene Custom Protein Services for LEPR
    GenScript Custom Purified and Recombinant Proteins Services for LEPR
    Novus Biologicals LEPR Proteins
    Novus Biologicals LEPR Lysates
    Sino Biological Recombinant Protein for LEPR
    Sino Biological Cell Lysate for LEPR
    ProSpec Recombinant Protein for LEPR
    Cloud-Clone Corp. Proteins for LEPR

    LEPR Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of LEPR
    R&D Systems Antibodies for LEPR (Leptin R)
    OriGene Antibodies for LEPR
    OriGene Custom Antibody Services for LEPR
    Novus Biologicals LEPR Antibodies
    Abcam antibodies for LEPR
    Cloud-Clone Corp. Antibodies for LEPR
    ThermoFisher Antibody for LEPR
    LSBio Antibodies in human, mouse, rat for LEPR

    LEPR Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for LEPR
    R&D Systems ELISAs for LEPR (Leptin R)
    GenScript Custom Assay Services for LEPR
    Enzo Life Sciences assays for LEPR
    Cloud-Clone Corp. ELISAs for LEPR
    Cloud-Clone Corp. CLIAs for LEPR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: Leptin receptor
    IL-6 receptor family

    Selected InterPro protein domains (see all 7):
     IPR007110 Ig-like_dom
     IPR010457 IgC2-like_lig-bd
     IPR015752 Lep_receptor
     IPR003961 Fibronectin_type3
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry P48357

    ProtoNet protein and cluster: P48357

    3 Blocks protein domains:
    IPB003529 Long hematopoietin receptor
    IPB003531 Short hematopoietin receptor
    IPB010457 Ig-like C2-type


    UniProtKB/Swiss-Prot: LEPR_HUMAN, P48357
    Domain: The cytoplasmic domain may be essential for intracellular signal transduction by activation of JAK
    tyrosine kinase and STATs
    Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular
    transport and cell-surface receptor binding
    Domain: The box 1 motif is required for JAK interaction and/or activation
    Similarity: Belongs to the type I cytokine receptor family. Type 2 subfamily
    Similarity: Contains 4 fibronectin type-III domains
    Similarity: Contains 1 Ig-like (immunoglobulin-like) domain


    LEPR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LEPR_HUMAN, P48357
    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)

         Genatlas biochemistry entry for LEPR:
    obese gene (leptin) receptor,16kDa,with two alternatively spliced forms,short ubiquitously expressed,long
    predominantly expressed in hypothalamus,homolog with mouse db,also expressed in human vasculature and in primary
    cultures of endothelial cells

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004888transmembrane signaling receptor activity TAS9537324
    GO:0004896cytokine receptor activity IEA--
    GO:0005515protein binding IPI11279102
    GO:0042802identical protein binding IPI--
         
    LEPR for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 37 alleles(MGI details for Lepr) (see all 25):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 

    LEPR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for LEPR: Leprtm1.1Rck Leprtm1Jke Leprtm1.2Chua

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LEPR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LEPR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LEPR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LEPR

    miRNA
    Products:
        
    miRTarBase miRNAs that target LEPR:
    hsa-mir-335-5p (MIRT017009), hsa-mir-877-5p (MIRT037290)

    Block miRNA regulation of human, mouse, rat LEPR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LEPR (see all 28):
    hsa-miR-124* hsa-miR-30c hsa-miR-607 hsa-miR-631 hsa-miR-1245 hsa-miR-30d hsa-miR-3661 hsa-miR-20b*
    SwitchGear 3'UTR luciferase reporter plasmidLEPR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LEPR
    Predesigned siRNA for gene silencing in human, mouse, rat LEPR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for LEPR

    Clone
    Products:
         
    OriGene clones in human, mouse for LEPR (see all 23)
    OriGene ORF clones in mouse, rat for LEPR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): LEPR (NM_002303)
    Sino Biological Human cDNA Clone for LEPR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEPR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEPR

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for LEPR
    Browse ESI BIO Cell Lines and PureStem Progenitors for LEPR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEPR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LEPR_HUMAN, P48357: Cell membrane; Single-pass type I membrane protein
    LEPR_HUMAN, P48357: Isoform E: Secreted (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular4
    nucleus3
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0043235receptor complex IDA--

    LEPR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LEPR About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signal Transduction0.58
    2PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Non-alcoholic fatty liver disease (NAFLD)0.41
    4Peptide ligand-binding receptors
    Neuroactive ligand-receptor interaction0.36
    5Prolactin Signaling Pathway
    Leptin signaling pathway0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for LEPR
        Development Leptin signaling via JAK/STAT and MAPK cascades
    Development Leptin signaling via PI3K-dependent pathway

    3 BioSystems Pathways for LEPR
        AMPK signaling
    Leptin signaling pathway
    Signaling events mediated by PTP1B



    5 Kegg Pathways  (Kegg details for LEPR):
        Cytokine-cytokine receptor interaction
    Neuroactive ligand-receptor interaction
    Jak-STAT signaling pathway
    Adipocytokine signaling pathway
    Non-alcoholic fatty liver disease (NAFLD)


    LEPR for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LEPR (see all 6): 
              G Protein Coupled Receptors 384HT in human mouse rat
              Interferons & Receptors in human mouse rat
              Insulin Resistance in human mouse rat
              Obesity in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LEPR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LEPR (P483571, 2, 3 ENSP000003303934) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LEPRP483572MINT-7714744 MINT-7714817 MINT-7714914 MINT-7714936 MINT-7714951 MINT-7714835 MINT-7714772 MINT-7714703 MINT-7714885 MINT-7714785 MINT-7714759 MINT-7714723 MINT-7714672 MINT-7714872 MINT-7714859
    CSNK2BP678702, 3MINT-8253385 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253385 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253385 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253385 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS9537324
    GO:0007166cell surface receptor signaling pathway TAS9537324
    GO:0007275multicellular organismal development TAS9537324
    GO:0008203cholesterol metabolic process IEA--
    GO:0051346negative regulation of hydrolase activity IEA--

    LEPR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for LEPR available from Tocris Bioscience    About this table
    CompoundAction CAS #
    LEP (116-130) (mouse)Synthetic leptin peptide fragment[258276-95-8]

    1 IUPHAR Ligand for LEPR (Leptin receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    leptin
    AgonistAgonist--

    Selected Novoseek inferred chemical compound relationships for LEPR gene (see all 49)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 46.9 7 17617622 (1), 18222172 (1), 15886225 (1), 15877921 (1) (see all 5)
    glucose 45.1 65 11443193 (3), 10207720 (2), 10490782 (2), 15997246 (2) (see all 31)
    tyrosine 36.7 31 11342028 (3), 15634336 (2), 11018044 (1), 11748924 (1) (see all 20)
    gp 130 30.4 7 10872892 (1), 19553602 (1), 9231810 (1), 11824504 (1) (see all 6)
    gnrh 29.8 12 15927772 (1), 11824513 (1), 11531922 (1), 12536356 (1) (see all 5)
    nash 27.8 3 15256362 (1), 17294310 (1)
    ribonucleic acid 27.3 5 10843179 (1), 12921548 (1), 11159367 (1), 9814492 (1)
    cholesterol 25.2 12 14625131 (2), 18924534 (1), 10207720 (1), 15962674 (1) (see all 8)
    lipid 24 19 18654948 (3), 15962674 (2), 14625131 (2), 10207720 (1) (see all 13)
    fatty acid 23.9 9 11144119 (2), 20032477 (1), 18498673 (1), 19079939 (1) (see all 6)

    1 PharmGKB related drug/compound annotation for LEPR gene    About this table
    Drug/compound PharmGKB Annotation
    simvastatinCA  



    LEPR for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

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    REFSEQ mRNAs for LEPR gene (6 alternative transcripts): 
    NM_001003679.3  NM_001003680.3  NM_001198687.1  NM_001198688.1  NM_001198689.1  NM_002303.5  

    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371059(uc001dcg.3 uc001dcj.3) ENST00000371060(uc001dch.3 uc001dck.3)
    ENST00000349533(uc009waq.3 uc001dci.3) ENST00000462765 ENST00000371058(uc021ool.1)
    ENST00000471762 ENST00000344610 ENST00000406510
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat LEPR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LEPR (see all 28):
    hsa-miR-124* hsa-miR-30c hsa-miR-607 hsa-miR-631 hsa-miR-1245 hsa-miR-30d hsa-miR-3661 hsa-miR-20b*
    SwitchGear 3'UTR luciferase reporter plasmidLEPR 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LEPR
    Clone
    Products:
         
    OriGene clones in human, mouse for LEPR (see all 23)
    OriGene ORF clones in mouse, rat for LEPR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): LEPR (NM_002303)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEPR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEPR
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LEPR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LEPR
      QuantiTect SYBR Green Assays in human, mouse, rat LEPR
      QuantiFast Probe-based Assays in human, mouse, rat LEPR

    Selected AceView cDNA sequences (see all 577):

    NM_001003679 AI754569 AA878743 NM_002303 AI953678 Y12670 CB989680 CA407932 
    AI672305 AW193260 AW068963 AK074841 AW978470 D62829 AI089859 AK094801 
    U66497 BF434803 AI309005 AI832321 CA941366 BX496443 CA941653 AA991603 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LEPR    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                          -     -     -                                                                                                                 -   
    SP2:                                                                                                                                                            
    SP3:                          -                                                                                                                                 
    SP4:                                                                                                                                                            

    ExUns: 23
    SP1:      
    SP2:      
    SP3:      
    SP4:      


    ECgene alternative splicing isoforms for LEPR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LEPR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    LEPR Expression
    About this image


    LEPR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Meninges
             Mature brain microvascular endothelial cells
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Bone Marrow Stromal Cells Pelvic Girdle
             Pelvic Girdle
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Zeugopod Growth Plate
             HyStem+BMP4-induced E15 cells
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
    LEPR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LEPR Protein Expression

    UniProtKB/Swiss-Prot: LEPR_HUMAN, P48357
    Tissue specificity: Isoform A is expressed in fetal liver and in hematopoietic tissues and choroid plexus. In
    adults highest expression in heart, liver, small intestine, prostate and ovary. Low level in lung and kidney.
    Isoform B is highly expressed in hypothalamus

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LEPR (see all 6): 
              G Protein Coupled Receptors 384HT in human mouse rat
              Interferons & Receptors in human mouse rat
              Insulin Resistance in human mouse rat
              Obesity in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for LEPR gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lepr1 , 5 leptin receptor1, 5 81.83(n)1
    75.71(a)1
      4 (46.96 cM)5
    168471  NM_146146.21  NP_666258.21 
     1017174045 
    chicken
    (Gallus gallus)
    Aves LEPR1 leptin receptor 60.78(n)
    48.93(a)
      374223  NM_204323.1  NP_989654.1 
    lizard
    (Anolis carolinensis)
    Reptilia LEPR6
    leptin receptor
    50(a)
    1 ↔ 1
    4(98101983-98131298)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia lepr1 leptin receptor 56.11(n)
    42.37(a)
      724071  NM_001044401.2  NP_001037866.2 
    zebrafish
    (Danio rerio)
    Actinopterygii lepr1 leptin receptor 45.02(n)
    31.54(a)
      567241  NM_001113376.1  NP_001106847.1 


    ENSEMBL Gene Tree for LEPR (if available)
    TreeFam Gene Tree for LEPR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LEPR (see all 3935)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11371001,2,,4
    C,F,A,Hnon-pathogenic166110333(+) AGGAAA/GGACAT 12 K R mis1 trp340Minor allele frequency- G:0.28NA EA MN NS WA EU 11196
    rs11371011,2,,4
    C,F,Hnon-pathogenic166132494(+) TTTCCG/AGTCAC 12 /Q /R mis148Minor allele frequency- A:0.47NA EA MN NS WA CSA EU 10100
    rs18050941,2
    C,F,Hnon-pathogenic166149932(+) AAAAAG/CGAGAA 12 /N /K mis122Minor allele frequency- C:0.17NA MN NS EA CSA WA EU 8704
    rs617813161,2
    C,Fprobable-non-pathogenic166176320(+) TTTGCA/GTCTTA 2 A syn12Minor allele frequency- G:0.00NA EU 5833
    rs764305641,2
    C--65903572(+) ACTGC-/AAACCT 3 -- int11Minor allele frequency- A:0.00CSA 2
    rs592558371,2
    C--65906982(+) AAGGGG/-TGGGG 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs800869311,2
    C--65916897(+) TTCTCC/TCATTT 3 -- int11Minor allele frequency- T:0.00NA 2
    rs349218101,2
    C,F--65917569(+) TTCACA/GATATT 3 -- int11Minor allele frequency- G:0.00NA 2
    rs67033421,2
    C--65920053(+) ttcttC/Tgtagt 3 -- int10--------
    rs75358971,2
    C,A,H--65920699(+) ttctcA/Gcttca 3 -- int11Minor allele frequency- G:0.00NA 2

    HapMap Linkage Disequilibrium report for LEPR (65886248 - 66107242 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LEPR (see all 37):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2630441CNV Deletion19546169
    esv2661943CNV Deletion23128226
    esv2079710CNV Deletion18987734
    esv2749229CNV Deletion23290073
    esv4385CNV Deletion18987735
    esv2015767CNV Deletion18987734
    esv2521430CNV Deletion19546169
    esv2615796CNV Deletion19546169
    esv2749240CNV Deletion23290073
    esv2580170CNV Deletion19546169

    Human Gene Mutation Database (HGMD): LEPR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LEPR
    DNA2.0 Custom Variant and Variant Library Synthesis for LEPR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601007   
    OMIM disorders: 614963  
    UniProtKB/Swiss-Prot: LEPR_HUMAN, P48357
  • Leptin receptor deficiency (LEPRD) [MIM:614963]: A rare disease characterized by normal levels of serum
    leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune
    function, and delayed puberty due to hypogonadotropic hypogonadism. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for LEPR (see all 130):    
    About MalaCards
    leptin receptor deficiency    lipoblastoma    monogenic non-syndromic obesity, autosomal recessive    leptin deficiency
    myoma    ossification of the posterior longitudinal ligament of the spine    mental retardation epilepsy    obesity
    central precocious puberty    bulimia nervosa    kallmann syndrome    diabetic foot ulcers
    severe pre-eclampsia    eating disorder    anorexia nervosa    precocious puberty
    glucose intolerance    prader-willi syndrome    nonalcoholic steatohepatitis    glanders

    5 diseases from the University of Copenhagen DISEASES database for LEPR:
    Morbid obesity     Diabetes mellitus     Hyperinsulinism     Hyperglycemia
    Infertility

    LEPR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for LEPR gene (see all 79)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 82.9 197 18716356 (4), 19622243 (4), 15660115 (3), 16333525 (3) (see all 99)
    insulin resistance 56.8 32 20032477 (3), 10490782 (2), 15131772 (2), 15132731 (2) (see all 19)
    anorexia nervosa 50.4 11 15564891 (2), 11192764 (2), 16737142 (1), 12140788 (1) (see all 9)
    kallmann syndrome 39.6 2 12536356 (1), 20363464 (1)
    insulin sensitivity 39 7 15132731 (2), 16614055 (1), 15240636 (1), 18713300 (1)
    hyperinsulinemia 38.4 1 19732059 (1)
    obesity morbid 36.5 6 9537324 (1), 9545018 (1), 11276500 (1), 12270921 (1)
    pituitary adenoma 32.7 16 11824504 (3), 15286449 (3), 9814492 (2), 12354126 (1) (see all 7)
    hyperlipidemia familial combined 31.6 1 16432543 (1)
    preeclampsia 30.6 16 17071538 (3), 15381908 (3), 16919629 (2), 15346662 (2) (see all 8)

    Genatlas disease: LEPR
    early-onset morbid obesity,absence of pubertal development (hypogonadotropic hypogonadism),and reduced secretion
    of growth hormone and thyrotropin

    Genetic Association Database (GAD): LEPR
    Human Genome Epidemiology (HuGE) Navigator: LEPR (202 documents)

    Export disorders for LEPR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LEPR gene, integrated from 10 sources (see all 890):
    (articles sorted by number of sources associating them with LEPR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Amino acid variants in the human leptin receptor: lack of association to juvenile onset obesity. (PubMed id 9144432)1, 2, 4, 9 Echwald S.M.... Pedersen O. (Biochem. Biophys. Res. Commun. 1997)
    2. Leptin receptor gene variation and obesity: lack of association in a white British male population. (PubMed id 9175732)1, 2, 4 Gotoda T.... Aitman T.J. (Hum. Mol. Genet. 1997)
    3. Identification and expression cloning of a leptin receptor, OB-R. (PubMed id 8548812)1, 2, 3 Tartaglia L.A.... Tepper R.I. (Cell 1995)
    4. Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: a case-control study. (PubMed id 19622243)1, 4, 9 Marti A....Estivill X. (Nutr Neurosci 2009)
    5. Polymorphisms in the leptin receptor (LEPR)--putative association with obesity and T2DM. (PubMed id 16333525)1, 4, 9 Park K.S....Kimm K. (J. Hum. Genet. 2006)
    6. Enhancing leptin response by preventing SH2-containing phosphatase 2 interaction with Ob receptor. (PubMed id 9600917)1, 2, 9 Carpenter L.R.... Stahl N. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    7. Leptin receptor polymorphisms and lung function decline in COPD. (PubMed id 19196818)1, 4, 9 Hansel N.N....Barnes K.C. (Eur. Respir. J. 2009)
    8. [Bone mineral density and leptin receptor polymorphism Gln223Arg in Han women in Beijing]. (PubMed id 15130412)1, 4, 9 Jiao J....Yu W. (Zhonghua Nei Ke Za Zhi 2004)
    9. Common genetic variations in the LEP and LEPR genes, obesity and breast cancer incidence and survival. (PubMed id 19697123)1, 4, 9 Cleveland R.J....Santella R.M. (Breast Cancer Res. Treat. 2010)
    10. Genotype x nutrient association of common polymorphisms in obesity-related genes with food preferences and time structure of energy intake. (PubMed id 19747414)1, 4, 9 BienertovA!-VaskA^ J....VaskA^ A. (Br. J. Nutr. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3953 HGNC: 6554 AceView: LEPR Ensembl:ENSG00000116678 euGenes: HUgn3953
    ECgene: LEPR Kegg: 3953 H-InvDB: LEPR

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LEPR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LEPR gene:
    Search GeneIP for patents involving LEPR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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