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    LEPR leptin receptor [ Homo sapiens (human) ]

    Gene ID: 3953, updated on 29-Oct-2024

    Summary

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    Official Symbol
    LEPRprovided by HGNC
    Official Full Name
    leptin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6554
    See related
    Ensembl:ENSG00000116678 MIM:601007; AllianceGenome:HGNC:6554
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OBR; OB-R; CD295; LEP-R; LEPRD
    Summary
    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]
    Expression
    Ubiquitous expression in liver (RPKM 22.2), endometrium (RPKM 12.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LEPR in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (65420652..65641559)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (65298629..65519352)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65886335..66107242)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268227 Neighboring gene DnaJ heat shock protein family (Hsp40) member C6 Neighboring gene Sharpr-MPRA regulatory region 12103 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:65885665-65886197 and GRCh37_chr1:65886198-65886731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1144 Neighboring gene Sharpr-MPRA regulatory region 13002 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:65933067-65933623 Neighboring gene RNA, U2 small nuclear 15, pseudogene Neighboring gene leptin receptor overlapping transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66019858-66020504 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66029333-66029958 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66029959-66030582 Neighboring gene small nucleolar RNA U13 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 11 pseudogene Neighboring gene Sharpr-MPRA regulatory region 5730 Neighboring gene RNA, 7SL, cytoplasmic 854, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1145 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:66306741-66307007 Neighboring gene phosphodiesterase 4B Neighboring gene NANOG hESC enhancer GRCh37_chr1:66469251-66469833 Neighboring gene PDE4B antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Lack of mutations in the leptin receptor gene in severely obese children. Dias NF, et al. Arq Bras Endocrinol Metabol, 2012 Apr. PMID 22666733
    2. Lys656Asn polymorphism of leptin receptor gene and metabolic syndrome in obese patients. De Luis DA, et al. Eur Rev Med Pharmacol Sci, 2011 May. PMID 21744741
    3. [Leptin receptor polymorphism--the evaluation of the hetero- and homozygote frequencies in population of children suffering from acute lymphoblastic leukemia (ALL) and healthy children]. GoźDziewska J, et al. Pol Merkur Lekarski, 2011 Jul. PMID 21870704
    4. The 223A>G polymorphism of the leptin receptor gene is associated with macroangiopathy in type 2 diabetes mellitus. Gan RT, et al. Mol Biol Rep, 2012 Apr. PMID 21938427
    5. Increased soluble leptin receptor levels are associated with advanced tumor stage in colorectal cancer patients. Tutino V, et al. Anticancer Res, 2011 Oct. PMID 21965750

    See all (743) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Arg/Arg genotype of leptin receptor gene Gln223Arg polymorphism may be an independent risk factor for nonalcoholic fatty liver disease.
      Title: The Arg/Arg genotype of leptin receptor gene Gln223Arg polymorphism may be an independent risk factor for nonalcoholic fatty liver disease.
    2. Role of Different Variants of Leptin Receptor in Human Adrenal Tumor Types.
      Title: Role of Different Variants of Leptin Receptor in Human Adrenal Tumor Types.
    3. Association of leptin G2548A and leptin receptor Q223R polymorphisms and their serum levels with infertility and recurrent pregnancy loss in Iranian women with polycystic ovary syndrome.
      Title: Association of leptin G2548A and leptin receptor Q223R polymorphisms and their serum levels with infertility and recurrent pregnancy loss in Iranian women with polycystic ovary syndrome.
    4. The Association of Plasma Leptin, Soluble Leptin Receptor and Total and High-Molecular Weight Adiponectin With the Risk of Perioperative Neurocognitive Disorders.
      Title: The Association of Plasma Leptin, Soluble Leptin Receptor and Total and High-Molecular Weight Adiponectin With the Risk of Perioperative Neurocognitive Disorders.
    5. The Expression of Genes Related to Reverse Cholesterol Transport and Leptin Receptor Pathways in Peripheral Blood Mononuclear Cells Are Decreased in Morbid Obesity and Related to Liver Function.
      Title: The Expression of Genes Related to Reverse Cholesterol Transport and Leptin Receptor Pathways in Peripheral Blood Mononuclear Cells Are Decreased in Morbid Obesity and Related to Liver Function.
    6. A Comprehensive Study of the Association between LEPR Gene rs1137101 Variant and Risk of Digestive System Cancers.
      Title: A Comprehensive Study of the Association between LEPR Gene rs1137101 Variant and Risk of Digestive System Cancers.
    7. Association of polymorphism in leptin receptor gene with susceptibility of adolescent idiopathic scoliosis.
      Title: Association of polymorphism in leptin receptor gene with susceptibility of adolescent idiopathic scoliosis.
    8. Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth.
      Title: Leptin and Leptin Receptor Polymorphisms in Infants and Their Parents: Correlation with Preterm Birth.
    9. Immunomodulatory leptin receptor[+] sympathetic perineurial barrier cells protect against obesity by facilitating brown adipose tissue thermogenesis.
      Title: Immunomodulatory leptin receptor(+) sympathetic perineurial barrier cells protect against obesity by facilitating brown adipose tissue thermogenesis.
    10. Genetic predisposition of LEPR (rs1137101) gene polymorphism related to type 2 diabetes mellitus - a meta-analysis.
      Title: Genetic predisposition of LEPR (rs1137101) gene polymorphism related to type 2 diabetes mellitus - a meta-analysis.
    Submit: New GeneRIF Correction See all GeneRIFs (580)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Obesity due to leptin receptor gene deficiency
    MedGen: C3554225 OMIM: 614963 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies a LEPR gene as a novel predisposing factor for childhood fasting plasma glucose.
    EBI GWAS Catalog
    Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
    EBI GWAS Catalog
    Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
    EBI GWAS Catalog
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    EBI GWAS Catalog
    Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
    EBI GWAS Catalog
    Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels.
    EBI GWAS Catalog
    Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.
    EBI GWAS Catalog
    Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
    EBI GWAS Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686B1731

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cytokine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables leptin receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables leptin receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in bone growth ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cytokine-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in energy homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in energy reserve metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in glycogen metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in leptin-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in leptin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in multicellular organism development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of autophagy IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of bone remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of feeding behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to leptin ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sexual reproduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    leptin receptor
    Names
    OB receptor
    huB219

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_015831.2 RefSeqGene

      Range
      5088..221929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_283

    mRNA and Protein(s)

    1. NM_001003679.3 → NP_001003679.1  leptin receptor isoform 3 precursor

      See identical proteins and their annotated locations for NP_001003679.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' terminal exon compared to variant 1, resulting in a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AI436180, U50748, U66495
      Consensus CDS
      CCDS30740.1
      UniProtKB/TrEMBL
      A8K2E3
      Related
      ENSP00000360099.3, ENST00000371060.7
      Conserved Domains (3) summary
      cd00063
      Location:237 → 330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741 → 812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333 → 420
      Lep_receptor_Ig; Ig-like C2-type domain

    2. NM_001003680.3 → NP_001003680.1  leptin receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_001003680.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon compared to variant 1, resulting in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      U66496
      Consensus CDS
      CCDS30741.1
      UniProtKB/TrEMBL
      A8K2E3
      Related
      ENSP00000360098.3, ENST00000371059.7
      Conserved Domains (3) summary
      cd00063
      Location:237 → 330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741 → 812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333 → 420
      Lep_receptor_Ig; Ig-like C2-type domain

    3. NM_001198687.2 → NP_001185616.1  leptin receptor isoform 2 precursor

      See identical proteins and their annotated locations for NP_001185616.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains alternate 5' UTR and 3' terminal exon compared to variant 1, resulting in a shorter isoform (2) with a distinct C-terminus compared to isoform 1. Variants 2 and 4 encode the same isoform.
      Source sequence(s)
      AC097063, AC119800, BC031086, U52912
      Consensus CDS
      CCDS30741.1
      UniProtKB/TrEMBL
      A8K2E3
      Conserved Domains (3) summary
      cd00063
      Location:237 → 330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741 → 812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333 → 420
      Lep_receptor_Ig; Ig-like C2-type domain

    4. NM_001198688.1 → NP_001185617.1  leptin receptor isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains alternate 5' UTR and 3' terminal exon compared to variant 1, resulting in a shorter isoform (4) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC097063, BC031086, U50748, U52913
      Consensus CDS
      CCDS55604.1
      UniProtKB/TrEMBL
      A8K2E3
      Related
      ENSP00000340884.8, ENST00000344610.12
      Conserved Domains (3) summary
      cd00063
      Location:237 → 330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741 → 812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333 → 420
      Lep_receptor_Ig; Ig-like C2-type domain

    5. NM_001198689.2 → NP_001185618.1  leptin receptor isoform 3 precursor

      See identical proteins and their annotated locations for NP_001185618.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains alternate 5' UTR and 3' terminal exon compared to variant 1, resulting in a shorter isoform (3) with a distinct C-terminus compared to isoform 1. Variants 3 and 6 encode the same isoform.
      Source sequence(s)
      AC119800, AI436180, BC031086, U50748, U52914
      Consensus CDS
      CCDS30740.1
      UniProtKB/TrEMBL
      A8K2E3
      Related
      ENSP00000483390.1, ENST00000616738.4
      Conserved Domains (3) summary
      cd00063
      Location:237 → 330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741 → 812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333 → 420
      Lep_receptor_Ig; Ig-like C2-type domain

    6. NM_002303.6 → NP_002294.2  leptin receptor isoform 1 precursor

      See identical proteins and their annotated locations for NP_002294.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC097063, U43168, U66497
      Consensus CDS
      CCDS631.1
      UniProtKB/Swiss-Prot
      P48357, Q13592, Q13593, Q13594, Q92919, Q92920, Q92921
      Related
      ENSP00000330393.7, ENST00000349533.11
      Conserved Domains (3) summary
      cd00063
      Location:237 → 330
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:741 → 812
      fn3; Fibronectin type III domain
      pfam06328
      Location:333 → 420
      Lep_receptor_Ig; Ig-like C2-type domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      65420652..65641559
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      65298629..65519352
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P48357.2 GenPept UniProtKB/Swiss-Prot:P48357

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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