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LEP Gene(Protein Coding)

Leptin

GCID:
GC07P128241
GIFtS:
58
Genes Participants
UDN Logo

Aliases for LEP Gene

Aliases for LEP Gene

  • Leptin 2 3 3 5
  • Leptin (Murine Obesity Homolog) 2 3
  • Leptin (Obesity Homolog, Mouse) 2 3
  • Obesity Factor 3 4
  • Obese Protein 3 4
  • OBS 3 4
  • OB 3 4
  • Obese, Mouse, Homolog Of 3
  • LEPD 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 into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]

GeneCards Summary for LEP Gene

LEP (Leptin) is a Protein Coding gene. Diseases associated with LEP include Leptin Deficiency Or Dysfunction and Congenital Leptin Deficiency. Among its related pathways are Peptide hormone metabolism and RET signaling. Gene Ontology (GO) annotations related to this gene include growth factor activity and peptide hormone receptor binding.

UniProtKB/Swiss-Prot for LEP Gene

  • Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways (PubMed:17344214, PubMed:15899045, PubMed:19688109). In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic for endothelial cell and affects innate and adaptive immunity (By similarity) (PubMed:8589726, PubMed:11460888, PubMed:19688109, PubMed:24340098, PubMed:25060689). In the arcuate nucleus of the hypothalamus, activates by depolarization POMC neurons inducing FOS and SOCS3 expression to release anorexigenic peptides and inhibits by hyperpolarization NPY neurons inducing SOCS3 with a consequent reduction on release of orexigenic peptides (By similarity). In addition to its known satiety inducing effect, has a modulatory role in nutrient absorption. In the intestine, reduces glucose absorption by enterocytes by activating PKC and leading to a sequential activation of p38, PI3K and ERK signaling pathways which exerts an inhibitory effect on glucose absorption (PubMed:24340098). Acts as a growth factor on certain tissues, through the activation of different signaling pathways increases expression of genes involved in cell cycle regulation such as CCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1 pathways (By similarity) (PubMed:17344214). May also play an apoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5 expression (PubMed:18242580). Pro-angiogenic, has mitogenic activity on vascular endothelial cells and plays a role in matrix remodeling by regulating the expression of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) (PubMed:11460888). In innate immunity, modulates the activity and function of neutrophils by increasing chemotaxis and the secretion of oxygen radicals. Increases phagocytosis by macrophages and enhances secretion of pro-inflammatory mediators. Increases cytotoxic ability of NK cells (PubMed:12504075). Plays a pro-inflammatory role, in synergy with IL1B, by inducing NOS2 wich promotes the production of IL6, IL8 and Prostaglandin E2, through a signaling pathway that involves JAK2, PI3K, MAP2K1/MEK1 and MAPK14/p38 (PubMed:15899045, PubMed:19688109). In adaptive immunity, promotes the switch of memory T-cells towards T helper-1 cell immune responses (By similarity). Increases CD4(+)CD25(-) T-cell proliferation and reduces autophagy during TCR (T-cell receptor) stimulation, through MTOR signaling pathway activation and BCL2 up-regulation (PubMed:25060689).

Tocris Summary for LEP Gene

  • Leptin was initially thought to have a role in energy homeostasis and obesity. It acts via leptin receptors (Ob-Rs), which are transmembrane catalytic receptors found on NPY/AgRP and alpha-MSH/CART neurons in hypothalamic nuclei. There are six isoforms of Ob-R.

Gene Wiki entry for LEP Gene

Additional gene information for LEP Gene

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

Genomics for LEP Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for LEP Gene

Promoters and enhancers for LEP Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07I128241 Promoter 0.6 EPDnew 550.8 +0.1 57 0.1 CEBPB LEP ENSG00000272915
GH07I128214 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 16.8 -23.7 -23706 5.4 CTCF ATF1 ZMYM3 CEBPG MCM2 CTBP1 POLR2A ZNF366 ATF7 CREM ENSG00000230715 ENSG00000243302 ENSG00000229413 ENSG00000243679 ZNF800 LEP METTL2B ENSG00000224138 GCC1 ENSG00000242588
GH07I128341 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.8 +102.0 102039 2.6 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 RBM28 GC07P128370 RNU7-27P ZNF800 GCC1 ENSG00000243679 ENSG00000230715 ENSG00000243302 ENSG00000224138 ENSG00000242588
GH07I128029 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 9.8 -209.7 -209738 3 CTCF GTF2F1 MXI1 SUZ12 SIN3A ZIC2 ZNF335 E2F1 ZFHX2 CTBP1 LRRC4 GC07M128031 GC07P128029 PIR44536 SND1 LEP
GH07I128236 Enhancer 1.4 FANTOM5 Ensembl ENCODE 12 -4.1 -4125 1.6 PKNOX1 ATF1 FOXA2 ZNF766 FOS ATF7 CAVIN1 REST ZNF592 MEF2D LOC105375494 LRRC4 IMPDH1 RBM28 LEP ENSG00000224138 ENSG00000242588 ZNF800 ENSG00000243230 SND1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LEP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LEP gene promoter:

Genomic Locations for LEP Gene

Genomic Locations for LEP Gene
chr7:128,241,202-128,257,629
(GRCh38/hg38)
Size:
16,428 bases
Orientation:
Plus strand
chr7:127,881,331-127,897,682
(GRCh37/hg19)

Genomic View for LEP Gene

Genes around LEP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LEP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LEP Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for LEP Gene

Proteins for LEP Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for LEP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for LEP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LEP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for LEP

No data available for DME Specific Peptides for LEP Gene

Domains & Families for LEP Gene

Gene Families for LEP Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for LEP Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for LEP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41159

UniProtKB/Swiss-Prot:

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

Function for LEP Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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:
Key player in the regulation of energy balance and body weight control. Once released into the circulation, has central and peripheral effects by binding LEPR, found in many tissues, which results in the activation of several major signaling pathways (PubMed:17344214, PubMed:15899045, PubMed:19688109). In the hypothalamus, acts as an appetite-regulating factor that induces a decrease in food intake and an increase in energy consumption by inducing anorexinogenic factors and suppressing orexigenic neuropeptides, also regulates bone mass and secretion of hypothalamo-pituitary-adrenal hormones. In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic for endothelial cell and affects innate and adaptive immunity (By similarity) (PubMed:8589726, PubMed:11460888, PubMed:19688109, PubMed:24340098, PubMed:25060689). In the arcuate nucleus of the hypothalamus, activates by depolarization POMC neurons inducing FOS and SOCS3 expression to release anorexigenic peptides and inhibits by hyperpolarization NPY neurons inducing SOCS3 with a consequent reduction on release of orexigenic peptides (By similarity). In addition to its known satiety inducing effect, has a modulatory role in nutrient absorption. In the intestine, reduces glucose absorption by enterocytes by activating PKC and leading to a sequential activation of p38, PI3K and ERK signaling pathways which exerts an inhibitory effect on glucose absorption (PubMed:24340098). Acts as a growth factor on certain tissues, through the activation of different signaling pathways increases expression of genes involved in cell cycle regulation such as CCND1, via JAK2-STAT3 pathway, or VEGFA, via MAPK1/3 and PI3K-AKT1 pathways (By similarity) (PubMed:17344214). May also play an apoptotic role via JAK2-STAT3 pathway and up-regulation of BIRC5 expression (PubMed:18242580). Pro-angiogenic, has mitogenic activity on vascular endothelial cells and plays a role in matrix remodeling by regulating the expression of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) (PubMed:11460888). In innate immunity, modulates the activity and function of neutrophils by increasing chemotaxis and the secretion of oxygen radicals. Increases phagocytosis by macrophages and enhances secretion of pro-inflammatory mediators. Increases cytotoxic ability of NK cells (PubMed:12504075). Plays a pro-inflammatory role, in synergy with IL1B, by inducing NOS2 wich promotes the production of IL6, IL8 and Prostaglandin E2, through a signaling pathway that involves JAK2, PI3K, MAP2K1/MEK1 and MAPK14/p38 (PubMed:15899045, PubMed:19688109). In adaptive immunity, promotes the switch of memory T-cells towards T helper-1 cell immune responses (By similarity). Increases CD4(+)CD25(-) T-cell proliferation and reduces autophagy during TCR (T-cell receptor) stimulation, through MTOR signaling pathway activation and BCL2 up-regulation (PubMed:25060689).
UniProtKB/Swiss-Prot Induction:
Induced by secretin.

Phenotypes From GWAS Catalog for LEP Gene

Gene Ontology (GO) - Molecular Function for LEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005179 hormone activity IBA --
GO:0008083 growth factor activity IEA --
GO:0051428 peptide hormone receptor binding IBA,IEA --
genes like me logo Genes that share ontologies with LEP: view
genes like me logo Genes that share phenotypes with LEP: view

Human Phenotype Ontology for LEP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LEP Gene

MGI Knock Outs for LEP:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LEP Gene

Localization for LEP Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LEP gene
Compartment Confidence
extracellular 5
mitochondrion 3
peroxisome 3
nucleus 3
cytosol 3
plasma membrane 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 1
golgi apparatus 1
endosome 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 IEA,ISS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with LEP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LEP Gene

Pathways & Interactions for LEP Gene

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

SIGNOR curated interactions for LEP Gene

Activates:

Gene Ontology (GO) - Biological Process for LEP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001525 angiogenesis IDA 19910644
GO:0001542 ovulation from ovarian follicle IEA --
GO:0001666 response to hypoxia IEA --
GO:0001819 positive regulation of cytokine production IEA --
genes like me logo Genes that share ontologies with LEP: view

Drugs & Compounds for LEP Gene

Products:

  1. Drug

(96) Drugs for LEP Gene - From: PharmGKB, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Olanzapine Approved, Investigational Pharma Antagonist 408
Risperidone Approved, Investigational Pharma Antagonist SR-2A inhibitor 498
Androstenedione Experimental, Illicit Pharma 0
LEP (116-130) (mouse) Pharma An antiobesity hormone, Synthetic leptin peptide fragment 0
antipsychotics Pharma 0

(36) Additional Compounds for LEP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) Tocris Compounds for LEP Gene

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

(1) ApexBio Compounds for LEP Gene

Compound Action Cas Number
LEP (116-130) (mouse) An antiobesity hormone 258276-95-8
genes like me logo Genes that share compounds with LEP: view

Drug Products

Transcripts for LEP Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for LEP Gene

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

Unigene Clusters for LEP Gene

Leptin:
Representative Sequences:

Clone Products

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LEP Gene

mRNA expression in normal human tissues for LEP Gene
mRNA expression by GTEx for LEP GenemRNA expression by BioGPS 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 (x28.2), Adipose - Visceral (Omentum) (x12.3), and Breast - Mammary Tissue (x7.1).

Protein differential expression in normal tissues from HIPED for LEP Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LEP Gene



Protein tissue co-expression partners for LEP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LEP Gene:

LEP

SOURCE GeneReport for Unigene cluster for LEP Gene:

Hs.194236

mRNA Expression by UniProt/SwissProt for LEP Gene:

P41159-LEP_HUMAN
Tissue specificity: Adipose tissue is the main source of leptin it is also produced by other peripheral tissues such as the skeletal muscle (PubMed:7789654, PubMed:16052473, PubMed:12448771). Expressed by intercalated and striated tracts of submandibular and parotid salivary gland intralobular ducts (PubMed:12448771). Detected by fundic epithelium of the gastric mucosa (PubMed:10896907). Secreted into blood and gastric juice (PubMed:10896907).

Evidence on tissue expression from TISSUES for LEP Gene

  • Blood(3.6)
  • Nervous system(3.5)
  • Intestine(3)
  • Liver(3)
  • Heart(2.9)
  • Muscle(2.8)
  • Pancreas(2.7)
  • Skin(2.6)
  • Adrenal gland(2.5)
  • Bone(2.5)
  • Thyroid gland(2.5)
  • Stomach(2.4)
  • Kidney(2.2)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LEP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
Regions:
Head and neck:
  • brain
  • head
  • larynx
  • neck
  • pharynx
  • pituitary gland
Thorax:
  • breast
  • lung
  • trachea
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • hair
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LEP: view

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 33 34
  • 99.2 (n)
dog
(Canis familiaris)
 Mammalia LEP 33 34
  • 87.03 (n)
cow
(Bos Taurus)
 Mammalia LEP 33
  • 86.63 (n)
OB 34
  • 84 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Lep 33
  • 83.43 (n)
mouse
(Mus musculus)
 Mammalia Lep 33 16 34
  • 82.63 (n)
oppossum
(Monodelphis domestica)
 Mammalia LEP 34
  • 69 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia LEP 34
  • 52 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100486715 33
  • 49.9 (n)
zebrafish
(Danio rerio)
 Actinopterygii lepa 34
  • 22 (a)
 OneToOne
Species where no ortholog for LEP was found in the sources mined by GeneCards:
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for LEP Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1034907482 uncertain-significance, Monogenic Non-Syndromic Obesity, Leptin deficiency or dysfunction 128,255,755(+) G/T 3_prime_UTR_variant
rs1037021751 uncertain-significance, Monogenic Non-Syndromic Obesity, Leptin deficiency or dysfunction 128,257,030(+) A/C 3_prime_UTR_variant
rs104894023 pathogenic, Leptin deficiency or dysfunction, Leptin deficiency (LEPD) [MIM:614962] 128,254,572(+) C/T coding_sequence_variant, missense_variant
rs10954174 benign, Leptin deficiency or dysfunction, Monogenic Non-Syndromic Obesity 128,256,483(+) A/C/G 3_prime_UTR_variant
rs113405088 uncertain-significance, Leptin deficiency or dysfunction, Monogenic Non-Syndromic Obesity 128,254,967(+) C/T 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv33413 CNV gain 17666407

Variation tolerance for LEP Gene

Residual Variation Intolerance Score: 56.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LEP Gene

Human Gene Mutation Database (HGMD)
LEP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LEP

SNP Genotyping and Copy Number Assay Products

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

Disorders for LEP Gene

MalaCards: The human disease database

(88) MalaCards diseases for LEP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leptin deficiency or dysfunction
  • lepd
congenital leptin deficiency
  • leptin deficiency or dysfunction
obesity due to congenital leptin deficiency
  • leptin deficiency or dysfunction
overnutrition
morbid obesity
  • severe obesity
- elite association - COSMIC cancer census association via MalaCards
Search LEP in MalaCards View complete list of genes associated with diseases

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:25551525, ECO:0000269 PubMed:9500540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LEP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LEP: view

No data available for Genatlas for LEP Gene

Publications for LEP Gene

  1. Genetic variation at selected SNPs in the leptin gene and association of alleles with markers of kidney disease in a Xhosa population of South Africa. (PMID: 20140086) Okpechi IG … Ramesar R (PloS one 2010) 3 22 44 58
  2. G(-2548)A leptin gene polymorphism in obese subjects is associated with serum leptin concentration and bone mass. (PMID: 20502402) Franek E … Wiecek A (Polskie Archiwum Medycyny Wewnetrznej 2010) 3 22 44 58
  3. Leptin gene -2548G/A variants predict risperidone-associated weight gain in children and adolescents. (PMID: 19873684) Calarge CA … Schlechte JA (Psychiatric genetics 2009) 3 22 44 58
  4. Genetic correlates of olanzapine-induced weight gain in schizophrenia subjects from north India: role of metabolic pathway genes. (PMID: 18681781) Srivastava V … Thelma B (Pharmacogenomics 2008) 3 22 44 58
  5. Leptin and leptin receptor gene polymorphisms and increases in body mass index (BMI) from olanzapine treatment in persons with schizophrenia. (PMID: 17285096) Ellingrod VL … Miller DD (Psychopharmacology bulletin 2007) 3 22 44 58

Products for LEP Gene

Sources for LEP Gene

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