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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LEPR Gene

protein-coding   GIFtS: 68
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)
About This Section

Aliases
Leptin Receptor1 2     LEPRD2
OBR2 3 5     huB2192
LEP-R2 3     DB3
OB-R2 3     HuB2193
OB Receptor2 3     CD295 Antigen3
CD2952     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 obesity due to leptin receptor gene deficiency, and among its related super-pathways are Development Leptin signaling via PI3K-dependent pathway and Development Leptin signaling via JAK/STAT and MAPK cascades. GO annotations related to this gene include cytokine receptor activity and transmembrane signaling receptor activity.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LEPR gene promoter:
         AP-1   STAT3   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform E: Secreted (Probable)
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:

  • UniProtKB: 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/activation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48357

  • LEPR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LEPR Protein Expression
    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  

    Human Recombinant Protein Products for LEPR: 
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    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 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--

    LEPR for ontologies           About GeneDecksing



    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
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    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 

    Assay Products for LEPR: 
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    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)
    About This Section
    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

    5/7 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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:
         15/25 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  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 - Custom generated mouse model solutions for LEPR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    8/28 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of LEPR 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEPR


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LEPR About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Development Leptin signaling via PI3K-dependent pathway
    Development Leptin signaling via PI3K-dependent pathway1.00
    2Development Leptin signaling via JAK/STAT and MAPK cascades
    Development Leptin signaling via JAK/STAT and MAPK cascades1.00
    3PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43
    4Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Non-alcoholic fatty liver disease (NAFLD)0.41
    5Class A/1 (Rhodopsin-like receptors)
    Neuroactive ligand-receptor interaction0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for LEPR
        Development Leptin signaling via JAK/STAT and MAPK cascades
    Development Leptin signaling via PI3K-dependent pathway


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LEPR

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

    5/51 Interacting proteins for LEPR (P483571, 2, 3 ENSP000003303934) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LEPR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/49 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  

    Search CenterWatch for drugs/clinical trials and news about LEPR

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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  

    Unigene Cluster for LEPR:

    Leptin receptor
    Hs.723178  [show with all ESTs]
    Unigene Representative Sequence: NM_001003679
    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

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    8/28 QIAGEN miScript miRNA 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*
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LEPR

    Additional mRNA sequence: 

    AK001042.1 AK290208.1 BC031086.1 BC131779.1 U43168.1 U50748.1 U52912.1 U52913.1 
    U52914.1 U66495.1 U66496.1 U66497.1 

    12 DOTS entries:

    DT.100693219  DT.95162302  DT.100790133  DT.101973269  DT.91810804  DT.100790132  DT.305314  DT.121426719 
    DT.121426665  DT.121426727  DT.86856283  DT.95219619 

    24/577 AceView cDNA sequences (see all 577):

    BF593841 AI672305 AI887160 CA773816 BX360952 AA461002 AK074841 CR541737 
    NM_002303 BF970201 AI801506 AW193260 AA418011 AA947180 AI208247 AI270226 
    AA652322 AW591200 AI270478 BM313534 BQ959135 BI324860 AI369660 BI913269 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    LEPR expression in normal human tissues (normalized intensities)      LEPR embryonic expression: see
    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 
     5/25 selected tissues (see all 25) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 8 entries
             Thoracic Rib
             HyStem+BMP4-induced E15 cells
             Human Calvarial Osteoblasts (HCO)   
             skeleton/pectoral girdle and thoracic body wall/scapula   
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Bone Marrow Stromal Cells Pelvic Girdle
             Pelvic Girdle
             limb/hindlimb/hind-paw   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+BMP4-induced E15 cells
             Human Annulus Fibrosus Cells (HAFC)   
             sensory organ/ear/inner ear   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Meninges
             Ciliary Ganglion   
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem E15, Meso-prx/latp Progenitor
             skeleton/axial skeleton   

    See LEPR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LEPR

    SOURCE GeneReport for Unigene cluster: Hs.723178

    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

        SABiosciences Expression via Pathway-Focused 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

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for LEPR
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEPR

    (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

    This gene was present in the common ancestor of chordates.

    Orthologs for LEPR gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lepr1 , 5 leptin receptor1, 5 81.8(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 60.71(n)
    48.93(a)
      374223  NM_204323.1  NP_989654.1 
    lizard
    (Anolis carolinensis)
    Reptilia LEPR6
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    50(a)
    13(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    4(98101983-98131298)
    AAWZ02039210(3284-8959)
    zebrafish
    (Danio rerio)
    Actinopterygii lepr1 leptin receptor 44.97(n)
    31.2(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
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3935 SNPs in LEPR are shown (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
    VAR_0027044
    ----see VAR_0027042 K R mis40--------
    VAR_0027074
    ----see VAR_0027072 S T mis40--------
    VAR_0027064
    ----see VAR_0027062 K N mis40--------
    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

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/37 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 601007    OMIM disorders: --

    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

  • 20/122 diseases for LEPR (see all 122):    About MalaCards
    leptin receptor deficiency    obesity due to leptin receptor gene deficiency    lipoblastoma    monogenic non-syndromic obesity, autosomal recessive
    myoma    leptin deficiency    obesity    ossification of the posterior longitudinal ligament of the spine
    mental retardation epilepsy    bulimia nervosa    central precocious puberty    kallmann syndrome
    severe pre-eclampsia    eating disorder    anorexia nervosa    pre-eclampsia
    prader-willi syndrome    glucose intolerance    glanders    eclampsia

    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:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/79 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)
    About This Section

    PubMed articles for LEPR gene, integrated from 9 sources (see all 869):
    (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. (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. (1997)
    3. Identification and expression cloning of a leptin receptor, OB-R. (PubMed id 8548812)1, 2, 3 Tartaglia L.A.... Tepper R.I. (1995)
    4. Association between leptin receptor (LEPR) and brain- derived neurotrophic factor (BDNF) gene variants and obesity: a case-control st udy. (PubMed id 19622243)1, 4, 9 Marti A....Estivill X. (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. (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. (1998)
    7. Leptin Receptor Polymorphisms and Lung Function Decline in Chronic Obstructive Pulmonary Disease. (PubMed id 19196818)1, 4, 9 Hansel N.N....Barnes K.C. (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. (2004)
    9. Genotype x nutrient association of common polymorphis ms in obesity-related genes with food preferences and time structure of energy intake. (PubMed id 19747414)1, 4, 9 BienertovA!-VaskA^ J....VaskA^ A. (2010)
    10. 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. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 3953 HGNC: 6554 AceView: LEPR Ensembl:ENSG00000116678 euGenes: HUgn3953
    ECgene: LEPR Kegg: 3953 H-InvDB: LEPR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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