LEP leptin [Homo sapiens (human)] - Gene

Summary

Official Symbol: LEPprovided by HGNC
Official Full Name: leptinprovided by HGNC
Primary source: HGNC:HGNC:6553
See related: Ensembl:ENSG00000174697 MIM:164160; AllianceGenome:HGNC:6553
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: OB; OBS; LEPD
Summary: This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]
Expression: Restricted expression toward fat (RPKM 214.1) See more
Orthologs: mouse all
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Genomic context

Location:: 7q32.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (128241278..128257629)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (129552743..129569093)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (127881331..127897682)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Relationship between leptin gene variants (-2548G>A and 19A>G) and obesity among north Indian Punjabi population.
Title: Relationship between leptin gene variants (-2548G>A and 19A>G) and obesity among north Indian Punjabi population.
Single nucleotide polymorphisms rs7799039 and rs2167270 in leptin gene and elevated serum levels of adiponectin predispose Iranians to Behcet's disease.
Title: Single nucleotide polymorphisms rs7799039 and rs2167270 in leptin gene and elevated serum levels of adiponectin predispose Iranians to Behçet's disease.
Multi-omics analysis identifies rare variation in leptin/PPAR gene sets and hypermethylation of ABCG1 contribute to antipsychotics-induced metabolic syndromes.
Title: Multi-omics analysis identifies rare variation in leptin/PPAR gene sets and hypermethylation of ABCG1 contribute to antipsychotics-induced metabolic syndromes.
A Case-Control Study of the Association of Leptin Gene Polymorphisms with Plasma Leptin Levels and Obesity in the Kerala Population.
Title: A Case-Control Study of the Association of Leptin Gene Polymorphisms with Plasma Leptin Levels and Obesity in the Kerala Population.
[Effects of Leptin and Leptin-associated Signaling Pathways on the Occurrence and Progression of Abdominal Aortic Aneurysms].
Title: [Effects of Leptin and Leptin-associated Signaling Pathways on the Occurrence and Progression of Abdominal Aortic Aneurysms].
[Leptin mediated activation of group 2 innate lymphocytes aggravates the pathogenesis of allergic rhinitis in obese adults].
Title: [Leptin mediated activation of group 2 innate lymphocytes aggravates the pathogenesis of allergic rhinitis in obese adults].
Association of genetic variants in Leptin, leptin receptor and adiponectin with hypertension risk and circulating Leptin/Adiponectin changes.
Title: Association of genetic variants in Leptin, leptin receptor and adiponectin with hypertension risk and circulating Leptin/Adiponectin changes.
Leptin alleviates endoplasmic reticulum stress induced by cerebral ischemia/reperfusion injury via the PI3K/Akt signaling pathway.
Title: Leptin alleviates endoplasmic reticulum stress induced by cerebral ischemia/reperfusion injury via the PI3K/Akt signaling pathway.
The intrafollicular concentration of leptin as a potential biomarker to predict oocyte maturity in in-vitro fertilization.
Title: The intrafollicular concentration of leptin as a potential biomarker to predict oocyte maturity in in-vitro fertilization.
Leptin and Hyperlipidemia in Primigrivida Preeclamptic Women and Normotensive Women.
Title: Leptin and Hyperlipidemia in Primigrivida Preeclamptic Women and Normotensive Women.

Submit: New GeneRIF Correction See all GeneRIFs (1718)

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 congenital leptin deficiency MedGen: C3554224 OMIM: 614962 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel loci for type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH70631 (e-PCR)
- UniSTS:78152

LEP-3 (e-PCR)
- UniSTS:253879

OBS (e-PCR)
- UniSTS:35280

STS-U43653 (e-PCR)
- UniSTS:35281

NoName (e-PCR)
- UniSTS:481242

Homology

Homologs of the LEP gene: The LEP gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and frog.
Orthologs from Annotation Pipeline: 241 organisms have orthologs with human gene LEP
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables hormone activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables leptin receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables peptide hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in activation of protein kinase C activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in activation of protein kinase C activity	IDA Inferred from Direct Assay more info	PubMed
involved_in adipose tissue development	IEA Inferred from Electronic Annotation more info
involved_in adult feeding behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in aorta development	IEA Inferred from Electronic Annotation more info
involved_in bile acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in bone growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in bone mineralization involved in bone maturation	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle hypertrophy	IEA Inferred from Electronic Annotation more info
involved_in cellular response to L-ascorbic acid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leptin stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in central nervous system neuron development	IEA Inferred from Electronic Annotation more info
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in circadian rhythm	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in eating behavior	IEA Inferred from Electronic Annotation more info
involved_in elastin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in energy reserve metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in female pregnancy	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	IEA Inferred from Electronic Annotation more info
involved_in glucose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycerol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in hormone metabolic process	IEA Inferred from Electronic Annotation more info
involved_in insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in intestinal absorption	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in leptin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in leukocyte tethering or rolling	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of appetite	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of appetite by leptin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of appetite by leptin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of autophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cartilage development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of glucagon secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of glucose import	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of glutamine transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of lipid storage	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in ovulation from ovarian follicle	IEA Inferred from Electronic Annotation more info
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in placenta development	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of T cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of TOR signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of TOR signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of developmental growth	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fat cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of follicle-stimulating hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of hepatic stellate cell activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-12 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-6 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of luteinizing hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of p38MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of p38MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peroxisome proliferator activated receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase signaling	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein kinase B signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tyrosine phosphorylation of STAT protein	IEA Inferred from Electronic Annotation more info
involved_in prostaglandin secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of angiogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of blood pressure	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 brown fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytokine production involved in inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of gluconeogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of insulin secretion	IEA Inferred from Electronic Annotation more info
involved_in regulation of intestinal cholesterol absorption	IEA Inferred from Electronic Annotation more info
involved_in regulation of lipoprotein lipid oxidation	IEA Inferred from Electronic Annotation more info
involved_in regulation of natural killer cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of natural killer cell mediated cytotoxicity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of natural killer cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of nitric-oxide synthase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to dietary excess	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in response to vitamin E	IEA Inferred from Electronic Annotation more info
involved_in sexual reproduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tyrosine phosphorylation of STAT protein	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: leptin

Names: leptin (murine obesity homolog); leptin (obesity homolog, mouse); obese protein; obese, mouse, homolog of; obesity factor

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.