LEPR leptin receptor [Homo sapiens (human)] - Gene

Summary

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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p31.3

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (65420652..65641559)
RS_2025_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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

Go to the top of the page Help

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 EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies in &gt;80 000 subjects identifies multiple loci for C-reactive protein levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiethnic meta-analysis of genome-wide association studies in &gt;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 EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

RH80929 (e-PCR)
- UniSTS:86799

RH79027 (e-PCR)
- UniSTS:53287

OBRGRP_2328 (e-PCR)
- UniSTS:280882

SHGC-112228 (e-PCR)
- UniSTS:168524

AL009879 (e-PCR)
- UniSTS:55374

SHGC-56809 (e-PCR)
- UniSTS:68688

SHGC-74936 (e-PCR)
- UniSTS:82000

MARC_46109-46110:1108421773:4 (e-PCR)
- UniSTS:471640

LEPR (e-PCR)
- UniSTS:253544

LEPR-2 (e-PCR)
- UniSTS:254061

PMC209419P1 (e-PCR)
- UniSTS:271992

AL034254 (e-PCR)
- UniSTS:94077

RH68452 (e-PCR)
- UniSTS:8344

G20438 (e-PCR)
- UniSTS:20379

A005R18 (e-PCR)
- UniSTS:20380

LEPR_4006 (e-PCR)
- UniSTS:463263

SHGC-32733 (e-PCR)
- UniSTS:28585

RH102615 (e-PCR)
- UniSTS:96949

D1S3711 (e-PCR)
- UniSTS:474551

D1S3710 (e-PCR)
- UniSTS:474552

G62073 (e-PCR)
- UniSTS:139196

SHGC-74954 (e-PCR)
- UniSTS:78782

SHGC-74948 (e-PCR)
- UniSTS:23797

PMC310709P1 (e-PCR)
- UniSTS:272637

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 cytokine receptor activity	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
enables leptin receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables peptide hormone binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell differentiation	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
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 cell surface receptor signaling pathway via STAT	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within 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	IEA Inferred from Electronic Annotation 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
acts_upstream_of_or_within glial cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of gluconeogenesis	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within 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	IEA Inferred from Electronic Annotation more info
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
acts_upstream_of_or_within 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	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of bone remodeling	IEA Inferred from Electronic Annotation more info
involved_in regulation of bone remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of feeding behavior	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in response to leptin	ISS Inferred from Sequence or Structural Similarity more info
involved_in sexual reproduction	IEA Inferred from Electronic Annotation more info
involved_in sexual reproduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in system development	IEA Inferred from Electronic Annotation 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
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	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

Go to the top of the page Help

Preferred Names: leptin receptor

Names: OB receptor; huB219

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_015831.2 RefSeqGene

Range

5088..221929

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_283

mRNA and Protein(s)

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
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
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
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
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
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