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Aliases for LEP Gene

Aliases for LEP Gene

  • Leptin 2 3
  • OB 3 4 6
  • Leptin (Murine Obesity Homolog) 2 3
  • Leptin (Obesity Homolog, Mouse) 2 3
  • Obesity Factor 3 4
  • Obese Protein 3 4
  • LEPD 3 6
  • OBS 3 4
  • Obese, Mouse, Homolog Of 3

External Ids for LEP Gene

Previous HGNC Symbols for LEP Gene

  • OBS
  • OB

Previous GeneCards Identifiers for LEP Gene

  • GC07P126358
  • GC07P127421
  • GC07P127435
  • GC07P127475
  • GC07P127668
  • GC07P127881
  • GC07P122242

Summaries for LEP Gene

Entrez Gene Summary for LEP Gene

  • This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008]

GeneCards Summary for LEP Gene

LEP (Leptin) is a Protein Coding gene. Diseases associated with LEP include obesity, morbid, due to leptin deficiency and congenital leptin deficiency. Among its related pathways are Signaling by GPCR and L1CAM interactions. GO annotations related to this gene include growth factor activity and peptide hormone receptor binding.

UniProtKB/Swiss-Prot for LEP Gene

  • May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass

Tocris Summary for LEP Gene

  • Leptin was initially thought to have a role in energy homeostasis and obesity. More recently, it has also been implicated in the regulation of reproduction, glucose homeostasis, bone formation, wound healing and the immune system. Leptin acts via leptin receptors, which are transmembrane catalytic receptors found on NPY/AgRP and alpha-MSH/CART neurons in hypothalamic nuclei. Leptin receptors (Ob-Rs) are coded for by one human gene that produces six different isoforms; Ob-Ra - Ob-Rf. Ob-Rs exist as constitutive dimers at physiological expression levels. Only the Ob-Rb isoform can transduce intracellular signals and does so through activation of the JAK2/STAT3, PI 3-K and MAPK signaling cascades. Activation of Ob-Rs mediates transcriptional regulation of the hypothalamic melanocortin pathway and downregulates endocannabinoid expression. Leptin resistance has been proposed as a pathophysiological mechanism of obesity. In obese individuals, Ob-Ra (which is involved in active transport of leptin across the blood-brain barrier) expression is downregulated and the individual may be unresponsive to leptin signals. Ob-R antagonists are of great interest in the development of pharmacological treatments for obesity.

Gene Wiki entry for LEP Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LEP Gene

Genomics for LEP Gene

Regulatory Elements for LEP Gene

Genomic Location for LEP Gene

Start:
128,241,189 bp from pter
End:
128,257,629 bp from pter
Size:
16,441 bases
Orientation:
Plus strand

Genomic View for LEP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LEP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEP Gene

Proteins for LEP Gene

  • Protein details for LEP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41159-LEP_HUMAN
    Recommended name:
    Leptin
    Protein Accession:
    P41159
    Secondary Accessions:
    • O15158
    • Q56A88

    Protein attributes for LEP Gene

    Size:
    167 amino acids
    Molecular mass:
    18641 Da
    Quaternary structure:
    • Interacts with SIGLEC6.

    Three dimensional structures from OCA and Proteopedia for LEP Gene

neXtProt entry for LEP Gene

Proteomics data for LEP Gene at MOPED

Post-translational modifications for LEP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LEP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for LEP Gene

Domains for LEP Gene

Protein Domains for LEP Gene

Suggested Antigen Peptide Sequences for LEP Gene

Graphical View of Domain Structure for InterPro Entry

P41159

UniProtKB/Swiss-Prot:

LEP_HUMAN :
  • P41159
Family:
  • Belongs to the leptin family.
genes like me logo Genes that share domains with LEP: view

No data available for Gene Families for LEP Gene

Function for LEP Gene

Molecular function for LEP Gene

GENATLAS Biochemistry: leptin,adipocyte-specific secreted protein,18.6kDa,controlling the size of adipose depot by a profound effect of appen appetite and energy expenditure,also involved in control of the hypothalamic-pituitary-gonadal (HPG) axis,also putative angiogenic factor,homolog of the murine obese gene (ob)
UniProtKB/Swiss-Prot Function: May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass

Gene Ontology (GO) - Molecular Function for LEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0005515 protein binding --
GO:0008083 growth factor activity IEA --
GO:0051428 peptide hormone receptor binding IEA --
genes like me logo Genes that share ontologies with LEP: view
genes like me logo Genes that share phenotypes with LEP: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for LEP Gene

Localization for LEP Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LEP Gene COMPARTMENTS Subcellular localization image for LEP gene
Compartment Confidence
extracellular 5
nucleus 3
peroxisome 3
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 2
plasma membrane 2
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with LEP: view

Pathways for LEP Gene

genes like me logo Genes that share pathways with LEP: view

Gene Ontology (GO) - Biological Process for LEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001542 ovulation from ovarian follicle IEA --
GO:0001666 response to hypoxia IEA --
GO:0001819 positive regulation of cytokine production IEA --
GO:0001890 placenta development IDA 17957153
genes like me logo Genes that share ontologies with LEP: view

Compounds for LEP Gene

(1) Tocris Compounds for LEP Gene

Compound Action Cas Number
LEP (116-130) (mouse) Synthetic leptin peptide fragment [258276-95-8]

(1) HMDB Compounds for LEP Gene

Compound Synonyms Cas Number PubMed IDs
Androstenedione
  • (4)-Androsten-3,17-dione
63-05-8

(130) Novoseek inferred chemical compound relationships for LEP Gene

Compound -log(P) Hits PubMed IDs
glucose 84.8 379
c-peptide 71.5 151
lipid 70.7 194
testosterone 70.6 306
cholesterol 70.4 217

(2) PharmGKB related drug/compound annotations for LEP Gene

Drug/compound Annotation
olanzapine CA
risperidone CA
genes like me logo Genes that share compounds with LEP: view

Transcripts for LEP Gene

mRNA/cDNA for LEP Gene

(25) Selected AceView cDNA sequences:
(9) Additional mRNA sequences :
(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LEP Gene

Leptin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LEP Gene

ExUns: 1a · 1b ^ 2a · 2b
SP1:
SP2:

Relevant External Links for LEP Gene

GeneLoc Exon Structure for
LEP
ECgene alternative splicing isoforms for
LEP

Expression for LEP Gene

mRNA expression in normal human tissues for LEP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LEP Gene

This gene is overexpressed in Adipose - Subcutaneous (28.2), Adipose - Visceral (Omentum) (12.3), and Breast - Mammary Tissue (7.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LEP Gene

SOURCE GeneReport for Unigene cluster for LEP Gene Hs.194236

genes like me logo Genes that share expressions with LEP: view

No data available for mRNA Expression by UniProt/SwissProt for LEP Gene

Orthologs for LEP Gene

This gene was present in the common ancestor of chordates.

Orthologs for LEP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LEP 35
  • 99.2 (n)
  • 99.4 (a)
LEP 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LEP 35
  • 86.63 (n)
  • 84.43 (a)
OB 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LEP 35
  • 87.03 (n)
  • 80.24 (a)
LEP 36
  • 66 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lep 35
  • 82.63 (n)
  • 83.23 (a)
Lep 16
Lep 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LEP 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LEP 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lep 35
  • 83.43 (n)
  • 82.04 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100486715 35
  • 49.9 (n)
  • 36.2 (a)
zebrafish
(Danio rerio)
Actinopterygii lepa 36
  • 22 (a)
OneToOne
Species with no ortholog for LEP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LEP Gene

ENSEMBL:
Gene Tree for LEP (if available)
TreeFam:
Gene Tree for LEP (if available)

Paralogs for LEP Gene

No data available for Paralogs for LEP Gene

Variants for LEP Gene

Sequence variations from dbSNP and Humsavar for LEP Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs791616 -- 128,239,290(+) tccta(C/T)gcaat upstream-variant-2KB
rs791617 -- 128,239,456(+) gcacc(G/T)ctgaa upstream-variant-2KB
rs791618 -- 128,239,839(+) aaacc(A/G)ttctt upstream-variant-2KB
rs791619 -- 128,240,525(+) TACAT(C/G)TGGGA upstream-variant-2KB
rs791620 -- 128,241,090(+) CCTGG(A/C)GCGCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LEP Gene

Variant ID Type Subtype PubMed ID
esv33413 CNV Gain 17666407

Relevant External Links for LEP Gene

HapMap Linkage Disequilibrium report
LEP
Human Gene Mutation Database (HGMD)
LEP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LEP Gene

Disorders for LEP Gene

(1) OMIM Diseases for LEP Gene (164160)

UniProtKB/Swiss-Prot

LEP_HUMAN
  • Leptin deficiency (LEPD) [MIM:614962]: A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age. {ECO:0000269 PubMed:9500540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(95) Novoseek inferred disease relationships for LEP Gene

Disease -log(P) Hits PubMed IDs
obesity 93.7 338
insulin resistance 91.6 273
insulin sensitivity 87.1 201
hyperinsulinemia 79.1 113
anorexia nervosa 78 142

Relevant External Links for LEP

Genetic Association Database (GAD)
LEP
Human Genome Epidemiology (HuGE) Navigator
LEP
genes like me logo Genes that share disorders with LEP: view

Publications for LEP Gene

  1. Human obese gene: molecular screening in Japanese and Asian Indian NIDDM patients associated with obesity. (PMID: 8621021) Niki T. … Kasuga M. (Diabetes 1996) 3 4 23 48
  2. Crystal structure of the obese protein leptin-E100. (PMID: 9144295) Zhang F. … Schevitz R.W. (Nature 1997) 3 4 23
  3. A leptin missense mutation associated with hypogonadism and morbid obesity. (PMID: 9500540) Strobel A. … Strosberg A.D. (Nat. Genet. 1998) 3 4 23
  4. The LEP gene and age of menarche: maternal age as a potential cause of hidden stratification in association studies. (PMID: 11461187) Comings D.E. … MacMurray J.P. (Mol. Genet. Metab. 2001) 3 23 48
  5. The A19G polymorphism in the 5' untranslated region of the human obese gene does not affect leptin levels in severely obese patients. (PMID: 11061506) Lucantoni R. … Di Blasio A.M. (J. Clin. Endocrinol. Metab. 2000) 3 23 48

Products for LEP Gene

Sources for LEP Gene

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