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LEPR leptin receptor [ Homo sapiens (human) ]

Gene ID: 3953, updated on 2-Nov-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
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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
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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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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

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