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LEP Gene

protein-coding   GIFtS: 66
GCID: GC07P127881

Leptin

(Previous names: leptin (murine obesity homolog), leptin (obesity homolog,...)
(Previous symbols: OBS, OB)
Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
leptin1 2     Obese Protein2 3
OB1 2 3 5     Obesity Factor2 3
OBS1 2 3     LEPD2 5
Leptin (Murine Obesity Homolog)1 2     Obese, Mouse, Homolog Of2
Leptin (Obesity Homolog, Mouse)1 2     

External Ids:    HGNC: 65531   Entrez Gene: 39522   Ensembl: ENSG000001746977   OMIM: 1641605   UniProtKB: P411593   

Export aliases for LEP gene to outside databases

Previous GC identifers: GC07P126358 GC07P127421 GC07P127435 GC07P127475 GC07P127668 GC07P122242


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 congenital leptin deficiency, and diencephalic syndrome. GO annotations related to this gene include growth factor activity and peptide hormone receptor binding.

UniProtKB/Swiss-Prot: LEP_HUMAN, P41159
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

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 (Leptin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LEP gene promoter:
         GR   C/EBPbeta   AP-1   ATF-2   GR-beta   AP-2gamma   AREB6   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see first 1): LEP promoter sequences (S715108  S717525  S717637)
   Search Chromatin IP Primers for LEP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LEP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.3   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q31

LEP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LEP gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P127881:  view genomic region     (about GC identifiers)

Start:
127,881,331 bp from pter      End:
127,897,682 bp from pter
Size:
16,352 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 127,264,455-127,280,803     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LEP_HUMAN, P41159 (See protein sequence)
Recommended Name: Leptin precursor  
Size: 167 amino acids; 18641 Da
Subunit: Interacts with SIGLEC6
1 PDB 3D structure from and Proteopedia for LEP:
1AX8 (3D)    
Secondary accessions: O15158 Q56A88

Explore the universe of human proteins at neXtProt for LEP: NX_P41159

Explore proteomics data for LEP at MOPED


See LEP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000221.1  
ENSEMBL proteins: 
 ENSP00000312652  
Reactome Protein details: P41159

LEP Human Recombinant Protein Products:

EMD Millipore Purified and/or Recombinant LEP Protein
R&D Systems Recombinant & Natural Proteins for LEP (Leptin/OB)
Enzo Life Sciences proteins for LEP
OriGene Purified Proteins for LEP
OriGene Protein Over-expression Lysate for LEP
OriGene MassSpec for LEP
OriGene Custom Protein Services for LEP
GenScript Purified and Recombinant Proteins for LEP
Novus Biologicals LEP Proteins
Novus Biologicals LEP Lysate
Sino Biological Recombinant Protein for LEP
Browse Sino Biological Cell Lysates
ProSpec Recombinant Protein for LEP
Cloud-Clone Corp. Proteins for LEP

LEP Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of LEP
R&D Systems Antibodies for LEP (Leptin/OB)
OriGene Antibodies for LEP
OriGene Custom Antibody Services for LEP
Novus Biologicals LEP Antibodies
Abcam antibodies for LEP
Cloud-Clone Corp. Antibodies for LEP
ThermoFisher Antibody for LEP
LSBio Antibodies in human, mouse, rat for LEP

LEP Assay Products:

EMD Millipore Kits and Assays for the Analysis of LEP
OriGene Custom Assay Services for LEP
R&D Systems ELISAs for LEP (Leptin/OB)         (see all)
GenScript Custom Assay Services for LEP
Enzo Life Sciences assays for LEP
Cloud-Clone Corp. ELISAs for LEP
Cloud-Clone Corp. CLIAs for LEP


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR009079 4_helix_cytokine-like_core
 IPR012351 4_helix_cytokine_core
 IPR000065 Leptin

Graphical View of Domain Structure for InterPro Entry P41159

ProtoNet protein and cluster: P41159

1 Blocks protein domain: IPB000065 Obesity factor (leptin) signature

UniProtKB/Swiss-Prot: LEP_HUMAN, P41159
Similarity: Belongs to the leptin family


LEP for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: LEP_HUMAN, P41159
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

     Genatlas biochemistry entry for LEP:
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)

     Summary: 
During embryonic development, LEP as signaling molecule is secreted from the following cells:
            fully expand
Adipose: Subcutaneous White Adipocytes (Facial Subcutaneous White Adipose), Subcutaneous White Adipocytes (Body Subcutaneous White Adipose)      fully expand to see all 6 cells

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005179hormone activity IEA--
GO:0005515protein binding ----
GO:0008083growth factor activity IEA--
GO:0051428peptide hormone receptor binding IEA--
     
LEP for ontologies           About GeneDecksing


Phenotypes:
     Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Lep) (see all 24):
 adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
 embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
 immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

LEP for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LEP
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LEP

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LEP
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LEP

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat LEP using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate LEP (see all 24):
hsa-miR-498 hsa-miR-29a hsa-miR-29c hsa-miR-128 hsa-miR-27b* hsa-miR-9 hsa-miR-1276 hsa-miR-298
SwitchGear 3'UTR luciferase reporter plasmidLEP 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for LEP
Predesigned siRNA for gene silencing in human, mouse, rat LEP

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for LEP

Clone
Products:
     
OriGene clones in human, mouse for LEP (see all 6)
OriGene ORF clones in mouse, rat for LEP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: LEP (NM_000230)
Sino Biological Human cDNA Clone for LEP
DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEP

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for LEP
Browse ESI BIO Cell Lines and PureStem Progenitors for LEP 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEP


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
LEP_HUMAN, P41159: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
nucleus3
peroxisome3
cytoskeleton2
endoplasmic reticulum2
mitochondrion2
plasma membrane2
cytosol1
golgi apparatus1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region TAS--
GO:0005615extracellular space ISS--
GO:0005737cytoplasm IEA--

LEP for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for LEP About   (see all 23)  
See pathways by source

SuperPathContained pathways About
1Incretin Synthesis, Secretion, and Inactivation
Incretin Synthesis, Secretion, and Inactivation0.88
Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1)0.88
2Peptide hormone metabolism
Peptide hormone metabolism0.30
Synthesis, Secretion, and Deacylation of Ghrelin0.00
3L1CAM interactions
Developmental Biology0.63
4Signaling by GPCR
Signal Transduction0.58
5PEDF Induced Signaling
Cytokine-cytokine receptor interaction0.43

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 R&D Systems Pathway for LEP
    Adipocytokines & Insulin Signaling

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for LEP
    AMPK Enzyme Complex Pathway

2 GeneGo (Thomson Reuters) Pathways for LEP
    Development Leptin signaling via JAK/STAT and MAPK cascades
Development Leptin signaling via PI3K-dependent pathway

Selected BioSystems Pathways for LEP (see all 6)
    Adipogenesis
AMPK signaling
Spinal Cord Injury
Leptin signaling pathway
Signaling events mediated by PTP1B


4 Reactome Pathways for LEP
    Synthesis, secretion, and deacylation of Ghrelin
Transcriptional regulation of white adipocyte differentiation
Signaling by Leptin
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)


5 Kegg Pathways  (Kegg details for LEP):
    Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Jak-STAT signaling pathway
Adipocytokine signaling pathway
Non-alcoholic fatty liver disease (NAFLD)


LEP for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Arrays including LEP (see all 10): 
          Insulin Signaling Pathway in human mouse rat
          Growth Factors in human mouse rat
          Angiogenic Growth Factors in human mouse rat
          Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
          Angiogenesis in human mouse rat

Interactions:

    GeneGlobe Interaction Network for LEP

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for LEP (P411593 ENSP000003126524) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
InteractantInteraction Details
GeneCardExternal ID(s)
PRKAA2P546463, ENSP000003602904I2D: score=1 STRING: ENSP00000360290
UCNP550893, ENSP000002960994I2D: score=1 STRING: ENSP00000296099
LEPRP483573, ENSP000003303934I2D: score=2 STRING: ENSP00000330393
A2MP010233, ENSP000003239294I2D: score=2 STRING: ENSP00000323929
CRPP027413, ENSP000002550304I2D: score=1 STRING: ENSP00000255030
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Gene Ontology (GO): Selected biological process terms (see all 60):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
GO:0001542ovulation from ovarian follicle IEA--
GO:0001666response to hypoxia IEA--
GO:0001819positive regulation of cytokine production IEA--
GO:0001890placenta development IDA17957153

LEP for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Compounds for LEP available from Tocris Bioscience    About this table
CompoundAction CAS #
LEP (116-130) (mouse)Synthetic leptin peptide fragment[258276-95-8]

1 HMDB Compound for LEP    About this table
CompoundSynonyms CAS #PubMed Ids
Androstenedione(4)-Androsten-3,17-dione (see all 14)63-05-811824514

Selected Novoseek inferred chemical compound relationships for LEP gene (see all 130)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
glucose 84.8 1892 10411236 (8), 10411242 (8), 17170237 (7), 15814535 (6) (see all 99)
c-peptide 71.5 169 12752073 (4), 16365005 (4), 19475640 (4), 15196417 (4) (see all 99)
lipid 70.7 531 16737635 (6), 15543224 (5), 11502793 (5), 19169663 (4) (see all 99)
testosterone 70.6 677 18462615 (11), 11244464 (9), 9253326 (7), 11228760 (6) (see all 99)
cholesterol 70.4 648 15555610 (7), 16324751 (7), 11447020 (6), 17884293 (6) (see all 99)
estradiol 67.6 321 9768648 (9), 11791088 (6), 9482922 (5), 11599235 (4) (see all 99)
dehydroepiandrosterone sulfate 63.4 91 10561001 (3), 12647279 (3), 11820328 (2), 17198487 (2) (see all 52)
orlistat 61.4 19 18846024 (3), 20119816 (2), 19409578 (2), 18457636 (1) (see all 6)
fatty acid 61 162 16822822 (4), 11342529 (3), 11404229 (3), 15919610 (3) (see all 99)
metformin 59.5 71 15531718 (6), 11436194 (4), 15983226 (3), 11289473 (3) (see all 37)

2 PharmGKB related drug/compound annotations for LEP gene    About this table
Drug/compound PharmGKB Annotation
olanzapineCA  
risperidoneCA  



LEP for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for LEP gene: 
NM_000230.2  

Unigene Cluster for LEP:

Leptin
Hs.194236  [show with all ESTs]
Unigene Representative Sequence: NM_000230
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000308868(uc003vml.2 uc003vmm.2)
Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
Products:
     
Block miRNA regulation of human, mouse, rat LEP using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate LEP (see all 24):
hsa-miR-498 hsa-miR-29a hsa-miR-29c hsa-miR-128 hsa-miR-27b* hsa-miR-9 hsa-miR-1276 hsa-miR-298
SwitchGear 3'UTR luciferase reporter plasmidLEP 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for LEP
Predesigned siRNA for gene silencing in human, mouse, rat LEP
Clone
Products:
     
OriGene clones in human, mouse for LEP (see all 6)
OriGene ORF clones in mouse, rat for LEP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: LEP (NM_000230)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEP
Primer
Products:
    
OriGene qPCR primer pairs and template standards for LEP
OriGene qSTAR qPCR primer pairs in human, mouse for LEP
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LEP
  QuantiTect SYBR Green Assays in human, mouse, rat LEP
  QuantiFast Probe-based Assays in human, mouse, rat LEP

Additional mRNA sequence: 

AF008123.1 AK313553.1 BC060830.1 BC069323.1 BC069452.1 BC069527.1 D49487.1 U18915.1 
U43653.1 

1 DOTS entry:

DT.412760 

Selected AceView cDNA sequences (see all 25):

BQ012637 U18915 BU752306 BC069323 BC060830 R62951 BC069452 AF008123 
BC069527 NM_000230 U43653 BX479630 BX098617 AA320865 BQ019411 CB995210 
R63003 N56684 D49487 H39701 H42529 H42528 CB265926 CB995927 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for LEP    About this scheme

ExUns: 1a · 1b ^ 2a · 2b
SP1:                        
SP2:                        


ECgene alternative splicing isoforms for LEP

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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LEP expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGAAGGGAC
LEP Expression
About this image


LEP expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Adipose (Muscoskeletal System)    fully expand to see all 11 entries
         Subcutaneous White Adipocytes Cranial Subcutaneous White Adipose
         Body Subcutaneous White Adipose
 
 Umbilical Cord (Extraembryonic Tissues)
         Umbilical Arteries
 
 Bone (Muscoskeletal System)
         Notch-transfected mesenchymal stromal cells (SB623)
 
 Mesenchymal Stem Cells
         Notch-transfected mesenchymal stromal cells (SB623)
 
 Placenta (Extraembryonic Tissues)
LEP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

LEP Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.194236
    Pathway & Disease-focused RT2 Profiler PCR Arrays including LEP (see all 10): 
          Insulin Signaling Pathway in human mouse rat
          Growth Factors in human mouse rat
          Angiogenic Growth Factors in human mouse rat
          Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
          Angiogenesis in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for LEP
OriGene qSTAR qPCR primer pairs in human, mouse for LEP
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LEP
QuantiTect SYBR Green Assays in human, mouse, rat LEP
QuantiFast Probe-based Assays in human, mouse, rat LEP
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEP

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for LEP gene from Selected species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Lep1 , 5 leptin1, 5 82.63(n)1
83.23(a)1
  6 (12.30 cM)5
168461  NM_008493.31  NP_032519.11 
 290602205 
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004867151 leptin-like 49.9(n)
36.2(a)
  100486715  XM_002931835.2  XP_002931881.2 
zebrafish
(Danio rerio)
Actinopterygii lepa6
leptin a
22(a)
1 ↔ 1
18(10137808-10138401) ENSDARG00000091085


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for LEP (see all 616)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1048940231,2,,4
CLeptin deficiency (LEPD)4 pathogenic1131237807(+) ACCTCC/TGGGAT 2 R W mis10--------
rs668186461,2
C--127267454(-) TAATC-/TG/   
  TGTGTG
TGTGT
1 -- int12NA 4
rs106764011,2
C,F--127882006(+) AATGA-/AAT   
  G
/ATGA
GGTGT
1 -- int12NS 92
rs113804671,2
C--127884139(+) AAAAAA/-GTAAC 1 -- int1 trp31Minor allele frequency- -:0.00CSA 2
rs674586951,2
C--127884300(+) CACAC-/ACAC  
        
ACACA
1 -- int10--------
rs1447140621,2
C--127884300(+) CCCTG-/ACACACAC
ACACACACAC
ACACA
1 -- int10--------
rs1473316701,2
C--127884300(+) CCCTG-/ACACAC
        
ACACA
1 -- int10--------
rs1887896531,2
--131222519(+) GAATGC/TCTATC 1 -- us2k10--------
rs7916161,2
C,F,A,H--131222528(+) tcctaC/Tgcaat 1 -- us2k17Minor allele frequency- T:0.06EA NS NA WA 540
rs611535761,2
C,F--131222529(+) CCTACG/ACAATG 1 -- us2k12Minor allele frequency- A:0.11WA 120

HapMap Linkage Disequilibrium report for LEP (127881331 - 127897682 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for LEP:    About this table    
Variant IDTypeSubtypePubMed ID
esv33413CNV Gain17666407

Human Gene Mutation Database (HGMD): LEP
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing LEP
DNA2.0 Custom Variant and Variant Library Synthesis for LEP

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 164160   
OMIM disorders: 614962  
UniProtKB/Swiss-Prot: LEP_HUMAN, P41159
  • Leptin deficiency (LEPD) [MIM:614962]: A rare disease characterized by low levels of serum leptin, severe
    hyperphagia and intractable obesity from an early age. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for LEP (see all 270):    
    About MalaCards
    congenital leptin deficiency    diencephalic syndrome    leptin deficiency    21-hydroxylase deficiency
    overnutrition    acquired generalized lipodystrophy    sleep apnea    lipoatrophic diabetes
    lipoblastoma    fetal macrosomia    monogenic non-syndromic obesity, autosomal recessive    idiopathic recurrent pericarditis
    sick building syndrome    berardinelli-seip congenital lipodystrophy    anorexia nervosa    gestational diabetes
    morbid obesity    rabson-mendenhall syndrome    eating disorder    severe pre-eclampsia

    Selected diseases from the University of Copenhagen DISEASES database for LEP (see all 23):
    Diabetes mellitus     Hyperinsulinism     Morbid obesity     Hypertension
    Hyperglycemia     Lipodystrophy     Fatty liver disease     Polycystic ovary syndrome
    Atherosclerosis     Eating disorder     Amenorrhea     Hypogonadism
    Infertility     Heart disease     Osteoporosis     Kidney failure
    Prader-Willi syndrome     Breast cancer     Rabies     Hyperandrogenism

    LEP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for LEP gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    obesity 93.7 2301 10722859 (6), 16782141 (6), 15793852 (6), 17147067 (5) (see all 99)
    insulin resistance 91.6 952 17093174 (6), 18521457 (5), 19781705 (5), 12485522 (5) (see all 99)
    insulin sensitivity 87.1 401 9876349 (8), 9385530 (5), 17413885 (4), 19269197 (4) (see all 99)
    hyperinsulinemia 79.1 151 17236585 (4), 9820061 (3), 17085442 (3), 15855322 (2) (see all 99)
    anorexia nervosa 78 154 17304762 (7), 11919545 (4), 9169091 (4), 9177394 (3) (see all 97)
    lipodystrophy 73.7 107 19727665 (5), 11856796 (4), 18348717 (4), 15356018 (3) (see all 51)
    polycystic ovary syndrome 72.9 112 11502810 (8), 12921548 (2), 17062953 (2), 18756827 (2) (see all 72)
    acquired generalized lipodystrophy 70.5 4 15256772 (1), 18076675 (1), 11994394 (1), 12502655 (1)
    lipodystrophy, congenital generalized 69.4 19 17118991 (4), 15983199 (3), 11994394 (2), 12502655 (2) (see all 12)
    niddm 68.3 128 2010535 (6), 8636448 (3), 9283801 (3), 8621021 (3) (see all 70)

    Genetic Association Database (GAD): LEP
    Human Genome Epidemiology (HuGE) Navigator: LEP (162 documents)

    Export disorders for LEP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LEP gene, integrated from 10 sources (see all 4624):
    (articles sorted by number of sources associating them with LEP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human obese gene: molecular screening in Japanese and Asian Indian NIDDM patients associated with obesity. (PubMed id 8621021)1, 2, 4, 9 Niki T.... Kasuga M. (Diabetes 1996)
    2. Genotype x nutrient association of common polymorphisms in obesity-related genes with food preferences and time structure of energy intake. (PubMed id 19747414)1, 4, 9 BienertovA!-VaskA^ J....VaskA^ A. (Br. J. Nutr. 2010)
    3. Common genetic variations in the LEP and LEPR genes, obesity and breast cancer incidence and survival. (PubMed id 19697123)1, 4, 9 Cleveland R.J....Santella R.M. (Breast Cancer Res. Treat. 2010)
    4. Genetic variations in the leptin and leptin receptor genes are associated with type 2 diabetes mellitus and metabolic traits in the Korean female population. (PubMed id 18564365)1, 4, 9 Han H.R....Park K.S. (Clin. Genet. 2008)
    5. Leptin gene (TTTC)(n) microsatellite polymorphism as well as leptin receptor R223Q and PPARgamma2 P12A substitutions are not associated with hypertensive disorders in pregnancy. (PubMed id 20070288)1, 4, 9 Wiedemann A....Toth B. (Am. J. Reprod. Immunol. 2010)
    6. Association between variants in the genes for leptin, leptin receptor, and proopiomelanocortin with chronic heart failure in the Czech population. (PubMed id 19337797)1, 4, 9 BienertovA!-VaskA^ J.A....VaskA^ A. (Heart Vessels 2009)
    7. Common SNPs in LEP and LEPR associated with birth weight and type 2 diabetes-related metabolic risk factors in twins. (PubMed id 18490929)1, 4, 9 Souren N.Y....Zeegers M.P. (Int J Obes (Lond) 2008)
    8. Leptin gene and leptin receptor gene polymorphisms are associated with sweet preference and obesity. (PubMed id 18716353)1, 4, 9 Mizuta E....Morisaki T. (Hypertens. Res. 2008)
    9. Leptin and leptin receptor polymorphisms are associated with increased risk and poor prognosis of breast carcinoma. (PubMed id 16504019)1, 4, 9 Snoussi K....Chouchane L. (BMC Cancer 2006)
    10. Relationship between single nucleotide polymorphisms in leptin, IL6 and adiponectin genes and their circulating product in morbidly obese subjects before and after gastric banding surgery. (PubMed id 15760495)1, 4, 9 Poitou C....ClAcment K. (Obes Surg 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3952 HGNC: 6553 AceView: LEP Ensembl:ENSG00000174697 euGenes: HUgn3952
    ECgene: LEP Kegg: 3952 H-InvDB: LEP

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LEP Pharmacogenomics, SNPs, Pathways
    R&D Systems' cytokine mini-reviews: Leptinhttp://www.rndsystems.com/molecule_detail.aspx?m=1773
    Wikipedia http://en.wikipedia.org/wiki/Leptin
    SeattleSNPshttp://pga.gs.washington.edu/data/lep/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LEP gene:
    Search GeneIP for patents involving LEP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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