LEP Gene
protein-coding GIFtS : 68
GCID: GC07 P127881
leptin (Previous names: leptin (murine obesity homolog), leptin (obesity homolog,... ) (Previous symbols: OBS, OB )
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Aliasesfor LEP gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Leptin 1 Obese Protein2 3 OB1 2 3 5 Obesity Factor2 3 OBS1 2 3 LEPD2 Leptin (Murine Obesity Homolog)1 2 Obese, Mouse, Homolog Of2 Leptin (Obesity Homolog, Mouse)1 2
Export aliases for LEP gene to outside databases Previous GC identifers: GC07P126358 GC07P127421 GC07P127435 GC07P127475 GC07P127668 GC07P122242
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Summariesfor LEP gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for LEP : 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) 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 increasein 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 : Leptin was initially thought to have a role in energy homeostasis and obesity. More recently, it has alsobeen implicated in the regulation of reproduction, glucose homeostasis, bone formation, wound healing andthe immune system. Leptin acts via leptin receptors, which are transmembrane catalytic receptors found onNPY/AgRP and alpha-MSH/CART neurons in hypothalamic nuclei. Leptin receptors (Ob-Rs) are coded for by onehuman gene that produces six different isoforms; Ob-Ra - Ob-Rf. Ob-Rs exist as constitutive dimers atphysiological expression levels. Only the Ob-Rb isoform can transduce intracellular signals and does sothrough activation of the JAK2/STAT3, PI 3-K and MAPK signaling cascades. Activation of Ob-Rs mediatestranscriptional regulation of the hypothalamic melanocortin pathway and downregulates endocannabinoidexpression. Leptin resistance has been proposed as a pathophysiological mechanism of obesity. In obeseindividuals, 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 areof great interest in the development of pharmacological treatments for obesity. Gene Wiki entry for LEP (Leptin)
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Genomic Viewsfor LEP 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000007.13 NC_018918.1 NT_007933.15 NT_079596.2 Regulatory elements: SABiosciences 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 Search SABiosciences Chromatin IP Primers for LEP Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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) 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 : Chr 7+,CRA_TCAG 127,264,455-127,280,803
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Proteinsfor LEP gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: LEP_HUMAN, P41159 (See
protein sequence )Recommended Name: Leptin precursor Size : 167 amino acids; 18641 Da
Subunit : Interacts with SIGLEC6
Subcellular location : Secreted
1 PDB 3D structure from and Proteopedia for LEP :1AX8 (3D)
 
Secondary accessions : O15158 Q56A88Explore the universe of human proteins at neXtProt for LEP: NX_P41159 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P41159 LEP Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_000221.1 ENSEMBL proteins: ENSP00000312652 Reactome Protein details: P41159 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 Protein: LEP OriGene Protein Over-expression Lysate: 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 ProSpec Recombinant Protein for LEP Uscn Proteins for LEP
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view) : About this table
LEP for ontologies About GeneDecksing LEP Antibody Products: Assay Products for LEP:
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Protein
Domains / Familiesfor LEP gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
LEP for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P41159 ProtoNet protein and cluster: P41159
1 Blocks protein family : IPB000065 Obesity factor (leptin) signature UniProtKB/Swiss-Prot: LEP_HUMAN, P41159 Similarity : Belongs to the leptin family
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Functionfor LEP gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: 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 increasein 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: Subcutaneous White Adipocytes in Cranial Subcutaneous White Adipose , Subcutaneous White Adipocytes in Subcutaneous White Adipose (see all 6 ). Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for LEP (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for LEPOriGene 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
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEP
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view) : About this table
LEP for ontologies About GeneDecksing Animal Models: 15/24 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Lep) (see all 24 ):
LEP for phenotypes About GeneDecksing
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Pathways & Interactionsfor LEP gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/16 super-pathways (see all 16 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Development_Leptin signaling via PI3K-dependent pathway 2 Development_CNTF receptor signaling 3 Expression of Leptin 4 Transcriptional Regulation of White Adipocyte Differentiation 5 Selected targets of GCR-alpha
Pathway sources See GeneCards unified pathways Show all pathways 3 EMD Millipore Pathways for LEP 1 R&D Systems Pathway for LEP 1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for LEP 2 GeneGo (Thomson Reuters) Pathways for LEP 5 BioSystems Pathways for LEP 3
Reactome Pathways for LEP 4
Kegg Pathways (Kegg details for LEP) :
LEP for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LEP STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/65 Interacting proteins for LEP (P41159 3 ENSP00000312652 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 65 )About this table Gene Ontology (GO): 5/61 biological process terms (GO ID links to tree view) (see all 61 ): About this table
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
LEP for ontologies About GeneDecksing
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Drugs & Compoundsfor LEP gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
LEP for compounds About GeneDecksing Compounds for LEP available from Tocris Bioscience About this table 1 HMDB Compound for LEP About this table 10/130 Novoseek 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 Search CenterWatch for drugs/clinical trials and news about LEP
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Transcriptsfor LEP gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section 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 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for LEP (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for LEPOriGene 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
Additional cDNA sequence: AF008123.1 AK313553.1 BC060830.1 BC069323.1 BC069452.1 BC069527.1 D49487.1 U18915.1 U43653.1
1 DOTS entry : DT.412760
24/25 AceView cDNA sequences (see all 25 ):
U18915 BQ012637 BU752306 U43653 NM_000230 BX479630 BC069323 BC069527 BX098617 AF008123 R62951 BC069452 BC060830 BQ019411 R63003 CB995210 AA320865 N56684 D49487 H42528 H39701 H42529 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
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Expression for LEP gene
(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™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section LEP expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CTGAAGGGAC
About this image LEP expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See LEP Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for LEP SOURCE GeneReport for Unigene cluster: Hs.194236 SABiosciences Expression via Pathway-Focused PCR Arrays including LEP (see all 10 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for LEPBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat LEP QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat LEP QIAGEN QuantiFast Probe-based Assays in human , mouse , rat LEP In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEP
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Orthologsfor LEP gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of human and mouse.
Orthologs for LEP gene from 1/7 species (see all 7 ) About this table
ENSEMBL Gene Tree for LEP (if available)TreeFam Gene Tree for LEP (if available)
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Paralogsfor LEP gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section --
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Genomic Variantsfor LEP gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 7 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More