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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LEP Gene

protein-coding GIFtS: 68
GCID: GC07P127881

leptin

(Previous names: leptin (murine obesity homolog), leptin (obesity homolog,...)
(Previous symbols: OBS, OB)

Explore 280 diseases affiliated with
LEP via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Leptin¹		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

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, 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 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:

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)

(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

SwitchGear Promoter luciferase reporter plasmids (see all 3): LEP promoter sequence

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)
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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, 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 Q56A88

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	ISS	--
GO:0005622	intracellular	--	--

LEP for ontologies About GeneDecksing

LEP Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of LEP
	R&D Systems Antibodies for LEP (Leptin/OB)
	Browse OriGene Antibodies OriGene Custom Antibody Services for LEP
	GenScript Superior Antibodies for LEP
	Novus Biologicals LEP Antibodies
	Search for Antibodies for LEP at Abcam
	Uscn Antibodies for LEP
	ThermoFisher Antibody for LEP

Assay Products for LEP:

	EMD Millipore Kits and Assays for the Analysis of LEP
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISAs for LEP (Leptin/OB) (see all)
	GenScript Custom Assay Services for LEP
	Enzo Life Sciences assays for LEP
	Uscn ELISAs and CLIAs for LEP

(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:

IPR012351 4_helix_cytokine_core

IPR009079 4_helix_cytokine-like_core

IPR000065 Leptin

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, 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 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: Subcutaneous White Adipocytes in Cranial Subcutaneous White Adipose, Subcutaneous White Adipocytes in Subcutaneous White Adipose (see all 6).

miRNA Products:		OriGene 3'-UTR Clone: LEP Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LEP
		8/24 QIAGEN miScript miRNA 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 plasmid: LEP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LEP (see all 7) OriGene shRNA RFP: LEP OriGene siRNA: LEP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LEP

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for LEP

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 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
		Search LifeMap BioReagents cell lines for 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

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	--

LEP for ontologies About GeneDecksing

Animal Models:
15/24 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	hematopoietic system	homeostasis/metabolism
immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging

LEP for phenotypes About GeneDecksing

(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 ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, 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

Development_Leptin signaling via PI3K-dependent pathway

	Development Leptin signaling via PI3K-dependent pathway	1.00			Adipocytokine signaling pathway	0.29
	Development_Leptin signaling via PI3K-dependent pathway	1.00

Development_CNTF receptor signaling

Development_Leptin signaling via JAK/STAT and MAPK cascades

0.25

Development Leptin signaling via JAK/STAT and MAPK cascades

0.25

Expression of Leptin

Expression of Leptin

1.00

Transcriptional Regulation of White Adipocyte Differentiation

Transcriptional Regulation of White Adipocyte Differentiation

1.00

Selected targets of GCR-alpha

Selected targets of GCR-alpha

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for LEP

	Development Leptin signaling via JAK/STAT and MAPK cascades
	Selected targets of GCR-alpha
	Development Leptin signaling via PI3K-dependent pathway

1 R&D Systems Pathway for LEP

Adipocytokines & Insulin Signaling

1 Downloadable PowerPoint Slide of QIAGEN 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

5 BioSystems Pathways for LEP

	AMPK signaling
	Adipogenesis
	Leptin signaling pathway
	HIF-1-alpha transcription factor network
	Signaling events mediated by PTP1B

3 Reactome Pathways for LEP

	Expression of Leptin
	Developmental Biology
	Transcriptional Regulation of White Adipocyte Differentiation

4 Kegg Pathways (Kegg details for LEP):

	Cytokine-cytokine receptor interaction
	Neuroactive ligand-receptor interaction
	Jak-STAT signaling pathway
	Adipocytokine signaling pathway

LEP for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM 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 (P41159³ ENSP00000312652⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 65)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKAA2	P54646³, ENSP00000360290⁴	I2D: score=1 STRING: ENSP00000360290
UCN	P55089³, ENSP00000296099⁴	I2D: score=1 STRING: ENSP00000296099
LEPR	P48357³, ENSP00000330393⁴	I2D: score=2 STRING: ENSP00000330393
A2M	P01023³, ENSP00000323929⁴	I2D: score=2 STRING: ENSP00000323929
CRP	P02741³, ENSP00000255030⁴	I2D: score=1 STRING: ENSP00000255030

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

(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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for LEP available from Tocris Bioscience About this table

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

1 HMDB Compound for LEP About this table

Compound	Synonyms	CAS #	PubMed Ids
Androstenedione	(4)-Androsten-3,17-dione (see all 14)	63-05-8	11824514

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

Drug/compound	PharmGKB Annotation
olanzapine	CA
risperidone	CA

About this table

Search CenterWatch for drugs/clinical trials and news about LEP

(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)

miRNA Products:		OriGene 3'-UTR Clone: LEP Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LEP
		8/24 QIAGEN miScript miRNA 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 plasmid: LEP 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LEP (see all 7) OriGene shRNA RFP: LEP OriGene siRNA: LEP
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LEP

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 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 genome-wide validated SYBR primer pairs in human, mouse, rat for LEP Browse 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

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

25 AceView cDNA sequences (see top 24):

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

H42105

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™, 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 imageBioGPS
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

10/16 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 16)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Body Subcutaneous White Adipose

Subcutaneous White Adipocytes

Selective marker (cell-identifying gene)

Adipose

Cranial Subcutaneous White Adipose

Subcutaneous White Adipocytes

Adipose

Facial Subcutaneous White Adipose

Subcutaneous White Adipocytes

Adipose

Subcutaneous White Adipose

Subcutaneous White Adipocytes

Adipose

Visceral White Adipose

Visceral White Adipocytes

Adipose

Cervical Brown Adipose Depot

Cervical Brown Adipocyte Cells

Adipose

Lumbar Brown Adipose Depot

Lumbar Brown Adipocyte Cells

Adipose

Sacral Brown Adipose Depot

Sacral Brown Adipocyte Cells

Adipose

Thoracic Brown Adipose Depot

Thoracic Brown Adipocyte Cells

Adipose

Body Subcutaneous White Adipose

Subcutaneous White Preadipocytes

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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):

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 genome-wide validated SYBR primer pairs in human, mouse, rat for LEP Browse 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

(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)
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

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Lep^{1 , 5}	leptin^{1, 5}	82.63(n)¹ 83.23(a)¹		6 (12.30 cM)⁵ 16846¹ NM_008493.3¹ NP_032519.1¹ 29060220⁵

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)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, 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

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs791616^1,2	C,F,A,H,	--	127262467(+)	`tcctaC/Tgcaat`	1	--	us2k¹		7		EA NS NA WA	540
rs61153576^1,2	C,	--	127262468(+)	`CCTACG/ACAATG`	1	--	us2k¹		2		WA	120
rs28954369^1,2	C,F,	--	127262568(+)	`CAGACC/TAGTTT`	1	--	us2k¹		5		NS NA	218
rs28954371^1,2	C,F,	--	127262632(+)	`TGCACC/TGCTGA`	1	--	us2k¹		4		NS NA	98
rs791617^1,2	C,H,	--	127262633(+)	`gcaccG/Tctgaa`	1	--	us2k¹		2		NA	4
rs28954372^1,2	C,F,	--	127262705(+)	`TTACAC/TCCCCT`	1	--	us2k¹		2		NS	94
rs28954373^1,2	C,F,	--	127262744(+)	`TGCTGG/ATTTGA`	1	--	us2k¹		3		NS CSA	95
rs10258300^1,2	C,	--	127262798(+)	`cccggC/Tggccc`	1	--	us2k¹		1		NA	2
rs36219262^1,2	C,	--	127262883(+)	`ACCTAC/TGTTGA`	1	--	us2k¹		0	--	--	--	--
rs28954375^1,2	C,F,	--	127262953(+)	`GCATGA/GGCCAC`	1	--	us2k¹		4		NS NA	98

HapMap Linkage Disequilibrium report for LEP (127881331 - 127897682 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for LEP
1 CNV: 7600
Human Gene Mutation Database (HGMD): LEP

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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LEP for disorders About GeneDecksing

OMIM gene information: 164160 OMIM disorders: --

UniProtKB/Swiss-Prot: LEP_HUMAN, P41159

Defects in LEP are the cause of leptin deficiency (LEPD) [MIM:614962]. A rare disease characterized by low

levels of serum leptin, severe hyperphagia and intractable obesity from an early age

20/280 diseases for LEP (see all 280): About MalaCards

obesity type 2 diabetes mellitus morbid obesity diabetes mellitus

protein-energy malnutrition hypogonadism rabson-mendenhall syndrome severe pre-eclampsia

pre-eclampsia 21-hydroxylase deficiency prader-willi syndrome acanthosis nigricans

fetal macrosomia spinal cord injury high blood pressure growth hormone deficiency

end stage renal failure hematopoiesis bardet-biedl syndrome retinol binding protein

20/22 diseases from the University of Copenhagen DISEASES database for LEP (see all 22):

Diabetes mellitus Hyperinsulinism Morbid obesity Hypertension

Hyperglycemia Lipodystrophy Fatty liver disease Polycystic ovary syndrome

Atherosclerosis Amenorrhea Eating disorder Hypogonadism

Infertility Osteoporosis Heart disease Kidney failure

Prader-Willi syndrome Hyperandrogenism Breast cancer Liver disease

10/95 Novoseek 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 9 sources (see all 4503):
(articles sorted by number of sources associating them with LEP)

Utopia: connect your pdf to the dynamic
world of online information

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. (1996)
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....Clement K. (2005)
Leptin and leptin receptor gene polymorphisms and changes in glucose homeostasis in response to regular exercise in nondiabetic individuals: the HERITAGE family study. (PubMed id 15161768)^{1, 4, 9} Lakka T.A....Bouchard C. (2004)
Congenital leptin deficiency is associated with severe early-onset obesity in humans. (PubMed id 9202122)^{1, 4, 9} Montague C.T....O'Rahilly S. (1997)
Microsatellite polymorphism of the human leptin gene (LEP) and risk of cardiovascular disease. (PubMed id 16261186)^{1, 4, 9} Porreca E....Stuppia L. (2006)
Leptin, soluble leptin receptor and leptin gene polymorphism in relation to preeclampsia risk. (PubMed id 15544427)^{1, 4, 9} Muy-Rivera M....Williams M.A. (2005)
Drug Insight: the role of leptin in human physiology and pathophysiology--emerging clinical applications. (PubMed id 16932309)^{1, 3, 9} Brennan A.M. and Mantzoros C.S. (2006)
The LEP gene and age of menarche: maternal age as a potential cause of hidden stratification in association studies. (PubMed id 11461187)^{1, 4, 9} Comings D.E....MacMurray J.P. (2001)
The A19G polymorphism in the 5' untranslated region of the human obese gene does not affect leptin levels in severely obese patients. (PubMed id 11061506)^{1, 4, 9} Lucantoni R....Di Blasio A.M. (2000)
A leptin missense mutation associated with hypogonadism and morbid obesity. (PubMed id 9500540)^{1, 2, 9} Strobel A.... Strosberg A.D. (1998)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for LEP	Pharmacogenomics, SNPs, Pathways
R&D Systems' cytokine mini-reviews: Leptin	http://www.rndsystems.com/molecule_detail.aspx?m=1773
Wikipedia	http://en.wikipedia.org/wiki/Leptin
SeattleSNPs	http://pga.gs.washington.edu/data/lep/

Intellectual Property for LEP gene
(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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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Fatty Liver
Severe malnutrition
Protein-Energy Malnutrition
Infertility
Hyperinsulinemia
essential hypertension
Obesity Morbid
Eating Disorders
Puberty Delayed
Hyperlipidemia
Glucose Intolerance
Binge Eating
insulin sensitivity
Liver diseases
Atherosclerosis
Hyperthyroidism
Fetal Macrosomia
Diabetes Mellitus Insulin-Dependent
IMBALANCE HORMONAL
Bulimia
LIPODYSTROPHY, FAMILIAL PARTIAL
Hypopituitarism
Coronary Atherosclerosis
bone loss
SECONDARY AMENORRHEA
ANDROGEN DEFICIENCY
MASS PHENOTYPE
Dyslipidemia
RENAL DISEASE
Malnutrition
Inflammation
SHORT STATURE
Kallmann Syndrome
Hyperglycemia
Hypertrophy
Osteopenia
Severe pre-eclampsia
Cardiovascular Diseases
Tumors
Bulimia Nervosa
metabolic disorder
Necrosis
Liver Cirrhosis
Preeclampsia
Hyperinsulinism
ENDOCRINE DISORDER
Hypothalamic Tumors
Hyperandrogenism
Cushing Syndrome
Anovulation
Coronary Heart Disease
Chronic Disease
insulin tolerance
Anorexia Nervosa
HYPOGONADISM MALE
PITUITARY ADENOMA
Sleep Apnea Obstructive
Liver Fibrosis
PARTIAL LIPODYSTROPHY
Narcolepsy
Diabetes Gestational
Hypothyroidism
Acromegaly
Diabetes Mellitus
Osteoporosis
Endocrine Effects
Single Gene Defects
Metabolic Syndrome X
Intrauterine Growth Retardation
Acanthosis Nigricans
hypercortisolism
Uremia
Response Acute Phase
growth hormone deficiency
Insulin Resistance
impaired glucose tolerance
Hypertriglyceridemia
Lipodystrophy
OBESITY
nutritional disorder
Polycystic Ovary Syndrome
Puberty Precocious
Apnea Sleep
DYSFUNCTION THYROID
LIPODYSTROPHY, CONGENITAL GENERALIZED
NIDDM
Syndrome X
Prader-Willi Syndrome
Polycystic ovaries
Acquired generalized lipodystrophy
HIGH BONE MASS
OBESITY-HYPOVENTILATION SYNDROME
Renal Failure Chronic
Hypogonadism
Choriocarcinoma

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LEP Gene

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