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FLASH GENE
Symbol LEPR contributors: mct - updated : 13-02-2019
HGNC name leptin receptor
HGNC id 6554
Corresponding disease
LEPR early-onset morbid obesity
Location 1p31.3      Physical location : 65.886.247 - 66.103.176
Synonym name
  • CD295 antigen
  • OB receptor
  • Synonym symbol(s) OBR, OBRB, CD295, DB, HuB219, OB-R
    DNA
    TYPE functioning gene
    STRUCTURE 216.50 kb     20 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure novel LEPR gene promoter that might provide a useful tool to study neuron specific expression and its hormonal regulation
    MAPPING cloned Y linked N status confirmed
    Map pter - D1S515 - JAK1 - D1S2423 - D1S2366 - LEPR LEPR - D1S2478 - PDE4B - D1S198 - D1S3352 - D1S2367 - GADD45A - D1S2178 - D1S470 - D1S541 - D1S219 - cen
    Physical map
    USP1 1p32.1-p31.3 ubiquitin specific protease 1 ANGPTL3 1p31 angiopoietin-like 3 AUTL1 1p31.3 AUT-like 1, cysteine endopeptidase (S. cerevisiae) LOC199897 1p32.1 hypothetical LOC199897 LOC388638 1 LOC388638 FOXD3 1p32-p31 forkhead box D3 ALG6 1p31.3 forkhead box D3 ITGB3BP 1p31.3 integrin beta 3 binding protein (beta3-endonexin) KIAA1799 1p31.3 KIAA1799 protein PGM1 1p22.3 phosphoglucomutase 1 ROR1 1p32-p31 receptor tyrosine kinase-like orphan receptor 1 MGC35130 1p31.3 hypothetical protein MGC35130 KIAA1573 1p31.3 KIAA1573 protein KIAA1579 1p31.3 hypothetical protein FLJ10770 JAK1 1p31.3 Janus kinase 1 (a protein tyrosine kinase) LOC391045 1 similar to Solute carrier family 2, facilitated glucose transporter, member 3 (Glucose transporter type 3, brain) MRPS21P1 1p31.3 mitochondrial ribosomal protein S21 pseudogene AK3 1p31 adenylate kinase 3 DNAJC6 1pter-q31.3 DnaJ (Hsp40) homolog, subfamily C, member 6 LEPR 1p31 leptin receptor PDE4B 1p31 phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila) DKFZp761D221 1p31.3 hypothetical protein DKFZp761D221 FLJ40873 1p31.3 hypothetical protein FLJ40873 INSL5 1p31.1-p22.3 insulin-like 5 FLJ23129 1p31.3 hypothetical protein FLJ23129 MI-ER1 1p31.3 mesoderm induction early response 1 SLC35D1 1p32-p31 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 IL23R 1p31.3-p31.2 interleukin-23 receptor IL12RB2 1p31.3-p31.2 interleukin 12 receptor, beta 2 PAI-RBP1 1p31-p22 PAI-1 mRNA-binding protein LOC391046 1 similar to heterogeneous nuclear ribonucleoprotein C isoform b; nuclear ribonucleoprotein particle C1 protein; nuclear ribonucleoprotein particle C2 protein GADD45A 1p31.2-p31.1 growth arrest and DNA-damage-inducible, alpha GNG12 1p33-p31 guanine nucleotide binding protein (G protein), gamma 12 LOC391047 1 similar to NAD-dependent deacetylase sirtuin 5 (SIR2-like protein 5) ARHI 1p31 ras homolog gene family, member I FLJ23091 1p31.2 putative NFkB activating protein 373 LOC149224 1p31.2 similar to 40S ribosomal protein S7 (S8) RPE65 1p31 retinal pigment epithelium-specific protein 65kDa
    RNA
    TRANSCRIPTS type messenger
    text multiple transcripts are generated by alternative splicing of 3 exons resulting in different structures in their carboxyl termini (PMID: 19766595)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 4161 132.4 1165 - 1996 8666155
    also called variant 1 (form13,2), LEPRB
    20 splicing 3079 108.9 958 highly expressed in the central nervous system, especially in the hypothalamus 2008 19766595
  • also called OBRB or variant 3 (Hub219,1)
  • receptor isoform that can activate the intracellular signal transducers and activators of transcription (STAT) pathways
  • - splicing 2935 103 906 - 1996 8666155
    also called variant 4 (Hub219,2)
    20 splicing 5142 102 896 - 1996 8805376
    also called variant 2 or Hub219,3
    - - 3044 - 958 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonhypothalamus highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    Cardiovascularendothelial cell
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text highly in placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a cytoplasmic domain with either a box 1 (short isoform) or box 2 and box 3 motifs (long isoforms)
  • HOMOLOGY
    interspecies ortholog to murine obese gene (Ob)
    Homologene
    FAMILY
  • type I cytokine receptor family
  • type 2 subfamily
  • CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    intracellular,cytoplasm,cytosolic
    text cytoplasm of the cell body, dendrites proximal axons of neurons; type 1 membrane protein
    basic FUNCTION
  • playing an important role in the regulation of glucose homeostasis via feeding and adiposity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text skeletal growth and development
    PATHWAY
    metabolism energetic
    signaling hormonal , signal transduction
    cell surface receptor linked signal transduction; energy reserve metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • obese gene (leptin) receptor
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LEPR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in colorectal cancer cells
    Susceptibility
  • obesity (Pima indians) body mass index (post menopausal caucasian women)
  • overweight (French people)
  • Variant & Polymorphism SNP
  • Q223R
  • variant T70C (increased risk of overweight in women)
  • obese carriers of common allelic variations gene had an increased risk to display extreme snacking behavior
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous (fa/fa) WBN/Kob-Lepr(fa) rattus, being a model of non-insulin-dependent diabetes with obesity