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
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
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	7	NC_000007.14 (128241201..128257629)
105.20201022	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?

Leptin Signaling Affects Survival and Chemoresistance of Estrogen Receptor Negative Breast Cancer.
Title: Leptin Signaling Affects Survival and Chemoresistance of Estrogen Receptor Negative Breast Cancer.
Mechanisms linking childhood weight status to metabolic risk in adolescence.
Title: Mechanisms linking childhood weight status to metabolic risk in adolescence.
Leptin, adiponectin, and their ratio as markers of insulin resistance and cardiometabolic risk in childhood obesity.
Title: Leptin, adiponectin, and their ratio as markers of insulin resistance and cardiometabolic risk in childhood obesity.
Biochemical study on modifying role of variants of leptin gene and its receptor on serum leptin levels in breast cancer.
Title: Biochemical study on modifying role of variants of leptin gene and its receptor on serum leptin levels in breast cancer.
Increase in Leptin and PPAR-gamma Gene Expression in Lipedema Adipocytes Differentiated in vitro from Adipose-Derived Stem Cells.
Title: Increase in Leptin and PPAR-γ Gene Expression in Lipedema Adipocytes Differentiated in vitro from Adipose-Derived Stem Cells.
Associations of maternal diet and placenta leptin methylation.
Title: Associations of maternal diet and placenta leptin methylation.
Association between plasma leptin/adiponectin ratios with the extent and severity of coronary artery disease.
Title: Association between plasma leptin/adiponectin ratios with the extent and severity of coronary artery disease.
Hydrogen Sulfide Inhibits Formaldehyde-Induced Senescence in HT-22 Cells via Upregulation of Leptin Signaling.
Title: Hydrogen Sulfide Inhibits Formaldehyde-Induced Senescence in HT-22 Cells via Upregulation of Leptin Signaling.
Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.
Title: Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity.
Assessment of leptin-to-adiponectin ratio in prediction of insulin resistance and nutrition status in a geriatric female population.
Title: Assessment of leptin-to-adiponectin ratio in prediction of insulin resistance and nutrition status in a geriatric female population.

Submit: New GeneRIF Correction See all GeneRIFs (1572)

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
Genome-wide association study identifies three novel loci for type 2 diabetes. GeneReviews: Not available
Leptin deficiency or dysfunction MedGen: C3554224 OMIM: 614962 GeneReviews: Not available	Compare labs

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: 189 organisms have orthologs with human gene LEP
Orthologs

Gene Ontology Provided by GOA

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

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

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