LEPR Gene (Protein Coding)

Leptin Receptor

GC01P065421
GIFtS:
49
The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is requ... See more...

Aliases for LEPR Gene

Aliases for LEPR Gene

  • Leptin Receptor 2 3 4 5
  • OBR 2 3 4
  • OB Receptor 3 4
  • HuB219 3 4
  • CD295 2 3
  • LEP-R 3 4
  • OB-R 3 4
  • CD295 Antigen 4
  • LEPRD 3
  • LEPR 5
  • DB 4

External Ids for LEPR Gene

Previous GeneCards Identifiers for LEPR Gene

  • GC01P065838
  • GC01P064841
  • GC01P065244
  • GC01P065257
  • GC01P065258
  • GC01P065599
  • GC01P065603
  • GC01P065659
  • GC01P065886
  • GC01P063995

Summaries for LEPR Gene

Entrez Gene Summary for LEPR Gene

  • The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]

CIViC Summary for LEPR Gene

GeneCards Summary for LEPR Gene

LEPR (Leptin Receptor) is a Protein Coding gene. Diseases associated with LEPR include Leptin Receptor Deficiency and Leptin Deficiency Or Dysfunction. Among its related pathways are Signaling by GPCR and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and cytokine receptor activity. An important paralog of this gene is IL6ST.

UniProtKB/Swiss-Prot Summary for LEPR Gene

  • Receptor for hormone LEP/leptin (Probable) (PubMed:22405007). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP 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 (By similarity) (PubMed:9537324). In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic and affects innate and adaptive immunity (PubMed:25060689, PubMed:12504075, PubMed:8805376). Control of energy homeostasis and melanocortin production (stimulation of POMC and full repression of AgRP transcription) is mediated by STAT3 signaling, whereas distinct signals regulate NPY and the control of fertility, growth and glucose homeostasis. Involved in the regulation of counter-regulatory response to hypoglycemia by inhibiting neurons of the parabrachial nucleus. Has a specific effect on T lymphocyte responses, differentially regulating the proliferation of naive and memory T -ells. Leptin increases Th1 and suppresses Th2 cytokine production (By similarity).
  • [Isoform A]: May transport LEP across the blood-brain barrier. Binds LEP and mediates LEP endocytosis. Does not induce phosphorylation of and activate STAT3.
  • [Isoform E]: Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.

Tocris Summary for LEPR 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 LEPR Gene

Additional gene information for LEPR Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LEPR Gene

Genomics for LEPR Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for LEPR 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
GH01J065416 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 603 +1.2 1193 9.8 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 IKZF1 KDM1A ZNF692 LEPROT LEPR NONHSAG001731.2 piR-59769-018 PDE4B
GH01J065525 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 604.4 +106.1 106062 3.4 CTCF PRDM10 REST ZNF629 IKZF1 ZNF692 FOXA1 PRDM1 MTA2 ZIC2 LEPR piR-61288-001 ENSG00000237852 PDE4B
GH01J065264 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.1 -155.1 -155107 2.3 HNRNPL CTCF TEAD4 PRDM10 ZNF629 KDM1A ZNF692 PRDM1 ZIC2 ZSCAN4 DNAJC6 RNU2-15P LEPR LEPROT lnc-JAK1-8 COX6CP13
GH01J065467 Enhancer 1.2 Ensembl ENCODE 18.7 +48.6 48649 4.6 GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 ZNF512 SOX13 ZNF692 RCOR2 piR-61240-006 LEPR LEPROT RNU2-15P PDE4B HSALNG0004202
GH01J065428 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 9.7 +9.5 9548 4.4 CTCF REST RAD21 ZNF501 TRIM22 BRCA1 CEBPB SP1 JUND CHD2 LEPROT LEPR NONHSAG001731.2 piR-59769-018 PDE4B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LEPR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LEPR

Top Transcription factor binding sites by QIAGEN in the LEPR gene promoter:
  • AP-1
  • STAT3

Genomic Locations for LEPR Gene

Genomic Locations for LEPR Gene
chr1:65,420,652-65,641,559
(GRCh38/hg38)
Size:
220,908 bases
Orientation:
Plus strand
chr1:65,886,248-66,107,242
(GRCh37/hg19)
Size:
220,995 bases
Orientation:
Plus strand

Genomic View for LEPR Gene

Genes around LEPR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for LEPR Gene

Proteins for LEPR Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    P48357-LEPR_HUMAN
    Recommended name:
    Leptin receptor
    Protein Accession:
    P48357
    Secondary Accessions:
    • Q13592
    • Q13593
    • Q13594
    • Q92919
    • Q92920
    • Q92921

    Protein attributes for LEPR Gene

    Size:
    1165 amino acids
    Molecular mass:
    132494 Da
    Quaternary structure:
    • Present as a mixture of monomers and dimers (Probable). The phosphorylated receptor binds a number of SH2 domain-containing proteins such as JAK2, STAT3, PTPN11, and SOCS3 (By similarity) (PubMed:9600917). Interaction with SOCS3 inhibits JAK/STAT signaling and MAPK cascade (By similarity).

    Three dimensional structures from OCA and Proteopedia for LEPR Gene

    Alternative splice isoforms for LEPR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LEPR Gene

Protein Expression for LEPR Gene

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

Post-translational modifications for LEPR Gene

  • On ligand binding, phosphorylated on two conserved C-terminal tyrosine residues (isoform B only) by JAK2. Tyr-986 is required for complete binding and activation of PTPN11, ERK/FOS activation,for interaction with SOCS3 and SOCS3 mediated inhibition of leptin signaling. Phosphorylation on Tyr-1141 is required for STAT3 binding/activation. Phosphorylation of Tyr-1079 has a more accessory role.
  • Glycosylation at Asn23, Asn41, Asn56, Asn73, Asn81, Asn98, Asn187, Asn206, Asn276, Asn347, Asn397, Asn516, Asn624, Asn659, Asn670, Asn688, Asn697, Asn728, and Asn750
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for LEPR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for LEPR

No data available for DME Specific Peptides for LEPR Gene

Domains & Families for LEPR Gene

Gene Families for LEPR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for LEPR Gene

InterPro:
Blocks:
  • Long hematopoietin receptor, gp130 family 2
  • Short hematopoietin receptor, family 1
  • Ig-like C2-type
ProtoNet:

Suggested Antigen Peptide Sequences for LEPR Gene

GenScript: Design optimal peptide antigens:
  • OB receptor (LEPR_HUMAN)
  • LEPR protein (Q4G138_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48357

UniProtKB/Swiss-Prot:

LEPR_HUMAN :
  • The cytoplasmic domain may be essential for intracellular signal transduction by activation of JAK tyrosine kinase and STATs.
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
Domain:
  • The cytoplasmic domain may be essential for intracellular signal transduction by activation of JAK tyrosine kinase and STATs.
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • The box 1 motif is required for JAK interaction and/or activation.
Family:
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
genes like me logo Genes that share domains with LEPR: view

Function for LEPR Gene

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

Molecular function for LEPR Gene

UniProtKB/Swiss-Prot Function:
Receptor for hormone LEP/leptin (Probable) (PubMed:22405007). On ligand binding, mediates LEP central and peripheral effects through the activation of different signaling pathways such as JAK2/STAT3 and MAPK cascade/FOS. In the hypothalamus, LEP 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 (By similarity) (PubMed:9537324). In the periphery, increases basal metabolism, influences reproductive function, regulates pancreatic beta-cell function and insulin secretion, is pro-angiogenic and affects innate and adaptive immunity (PubMed:25060689, PubMed:12504075, PubMed:8805376). Control of energy homeostasis and melanocortin production (stimulation of POMC and full repression of AgRP transcription) is mediated by STAT3 signaling, whereas distinct signals regulate NPY and the control of fertility, growth and glucose homeostasis. Involved in the regulation of counter-regulatory response to hypoglycemia by inhibiting neurons of the parabrachial nucleus. Has a specific effect on T lymphocyte responses, differentially regulating the proliferation of naive and memory T -ells. Leptin increases Th1 and suppresses Th2 cytokine production (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform A]: May transport LEP across the blood-brain barrier. Binds LEP and mediates LEP endocytosis. Does not induce phosphorylation of and activate STAT3.
UniProtKB/Swiss-Prot Function:
[Isoform E]: Antagonizes Isoform A and isoform B-mediated LEP binding and endocytosis.
GENATLAS Biochemistry:
obese gene (leptin) receptor,16kDa,with two alternatively spliced forms,short ubiquitously expressed,long predominantly expressed in hypothalamus,homolog with mouse db,also expressed in human vasculature and in primary cultures of endothelial cells

Phenotypes From GWAS Catalog for LEPR Gene

Gene Ontology (GO) - Molecular Function for LEPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 9537324
GO:0004896 cytokine receptor activity IBA 21873635
GO:0005515 protein binding IPI 11279102
GO:0017046 peptide hormone binding IBA 21873635
GO:0019955 cytokine binding IBA 21873635
genes like me logo Genes that share ontologies with LEPR: view
genes like me logo Genes that share phenotypes with LEPR: view

Human Phenotype Ontology for LEPR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LEPR Gene

MGI Knock Outs for LEPR:
  • Lepr Lepr<tm1.2Chua>
  • Lepr Lepr<tm1b(EUCOMM)Wtsi>
  • Lepr Lepr<tm1.1Rck>
  • Lepr Lepr<tm1Jke>

Animal Model Products

  • Taconic Biosciences Mouse Models for LEPR

CRISPR Products

miRNA for LEPR Gene

miRTarBase miRNAs that target LEPR

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LEPR

Clone Products

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

Localization for LEPR Gene

Subcellular locations from UniProtKB/Swiss-Prot for LEPR Gene

Cell membrane. Single-pass type I membrane protein. Basolateral cell membrane.
[Isoform E]: 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 LEPR gene
Compartment Confidence
plasma membrane 5
extracellular 4
nucleus 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for LEPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane IEA --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LEPR: view

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

Pathways & Interactions for LEPR Gene

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

Pathways by source for LEPR Gene

2 Reactome pathways for LEPR Gene
2 GeneGo (Thomson Reuters) pathways for LEPR Gene
  • Development_Leptin signaling via JAK/STAT and MAPK cascades
  • Development_Leptin signaling via PI3K-dependent pathway

SIGNOR curated interactions for LEPR Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for LEPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IMP 21771332
GO:0001934 positive regulation of protein phosphorylation IDA 27037668
GO:0005977 glycogen metabolic process IEA --
GO:0006112 energy reserve metabolic process TAS 9537324
GO:0006909 phagocytosis IEA --
genes like me logo Genes that share ontologies with LEPR: view

Drugs & Compounds for LEPR Gene

Products:

  1. Drug

(39) Drugs for LEPR Gene - From: DrugBank, PharmGKB, ClinicalTrials, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metreleptin Approved Pharma Target, agonist 0
Atorvastatin Approved Pharma Inhibitor, Competitive 893
Simvastatin Approved Pharma Inhibitor, Competitive HMG-CoA reductase inhibitor 582
Valproic acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 377
Leptin Investigational Pharma Agonist, Target, inhibitor 0

(19) Additional Compounds for LEPR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) Tocris Compounds for LEPR Gene

Compound Action Cas Number
LEP (116-130) (mouse) Synthetic leptin peptide fragment 258276-95-8
genes like me logo Genes that share compounds with LEPR: view

Transcripts for LEPR Gene

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

mRNA/cDNA for LEPR Gene

6 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LEPR

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - -
SP2:
SP3: -
SP4:

ExUns: 23
SP1:
SP2:
SP3:
SP4:

Relevant External Links for LEPR Gene

GeneLoc Exon Structure for
LEPR

Expression for LEPR Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for LEPR Gene
mRNA expression by BioGPS for LEPR GenemRNA expression by GTEx for LEPR Gene

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

This gene is overexpressed in Liver (x6.3).

Protein differential expression in normal tissues from HIPED for LEPR Gene

This gene is overexpressed in Cerebral cortex (51.8) and Gallbladder (10.3).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LEPR

SOURCE GeneReport for Unigene cluster for LEPR Gene:

Hs.723178

mRNA Expression by UniProt/SwissProt for LEPR Gene:

P48357-LEPR_HUMAN
Tissue specificity: Isoform A is expressed in fetal liver and in hematopoietic tissues and choroid plexus. In adults highest expression in heart, liver, small intestine, prostate and ovary. Low level in lung and kidney. Isoform B is highly expressed in hypothalamus, but also in skeletal muscle. Detected in fundic and antral epithelial cells of the gastric mucosa (PubMed:19159218). Isoform B and isoform A are expressed by NK cells (at protein level) (PubMed:12504075).

Evidence on tissue expression from TISSUES for LEPR Gene

  • Liver(4.7)
  • Nervous system(4.7)
  • Bone marrow(4.5)
  • Muscle(3)
  • Heart(3)
  • Blood(2.9)
  • Skin(2.8)
  • Stomach(2.8)
  • Kidney(2.7)
  • Pancreas(2.7)
  • Adrenal gland(2.6)
  • Intestine(2.5)
  • Lung(2.5)
  • Lymph node(2.4)
  • Thyroid gland(2.4)
  • Bone(2.3)
  • Spleen(2.2)
  • Gall bladder(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • neck
  • pituitary gland
  • thyroid
Thorax:
  • breast
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
General:
  • blood
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with LEPR: view

No data available for Protein tissue co-expression partners for LEPR Gene

Orthologs for LEPR Gene

This gene was present in the common ancestor of chordates.

Orthologs for LEPR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia LEPR 30 31
  • 99.31 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia LEPR 30
  • 88.65 (n)
OB-R 31
  • 83 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LEPR 30 31
  • 88.46 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Lepr 30 17 31
  • 81.83 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Lepr 30
  • 81.77 (n)
Oppossum
(Monodelphis domestica)
 Mammalia LEPR 31
  • 65 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia LEPR 31
  • 51 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves LEPR 30 31
  • 60.78 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia LEPR 31
  • 50 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia lepr 30
  • 56.11 (n)
Zebrafish
(Danio rerio)
 Actinopterygii lepr 30 31
  • 45.02 (n)
 OneToOne
Species where no ortholog for LEPR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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 Vase (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 LEPR Gene

ENSEMBL:
Gene Tree for LEPR (if available)
TreeFam:
Gene Tree for LEPR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LEPR: view image

Paralogs for LEPR Gene

Variants for LEPR Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LEPR Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
724943 Likely Benign: not provided 65,421,440(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
727197 Conflicting Interpretations: Leptin receptor deficiency; not provided 65,565,601(+) T/C SYNONYMOUS_VARIANT
730209 Conflicting Interpretations: Leptin receptor deficiency; not provided 65,618,121(+) A/C SYNONYMOUS_VARIANT
730249 Benign: not provided 65,572,318(+) A/ATTTTTTTTTT INTRON_VARIANT
775558 Benign/Likely Benign: Leptin receptor deficiency; not provided 65,636,475(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for LEPR Gene

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

Variant ID Type Subtype PubMed ID
dgv174n100 CNV gain 25217958
dgv96n106 CNV deletion 24896259
esv1474810 CNV insertion 17803354
esv1978491 CNV deletion 18987734
esv2015767 CNV deletion 18987734
esv2079710 CNV deletion 18987734
esv2464074 CNV loss 19546169
esv2521430 CNV deletion 19546169
esv2572647 CNV insertion 19546169
esv2580170 CNV deletion 19546169
esv2615796 CNV deletion 19546169
esv2630441 CNV deletion 19546169
esv2661943 CNV deletion 23128226
esv2665242 CNV deletion 23128226
esv2749218 CNV deletion 23290073
esv2749229 CNV deletion 23290073
esv2749240 CNV deletion 23290073
esv2749252 CNV deletion 23290073
esv2763314 CNV loss 21179565
esv28812 CNV loss 19812545
esv3563248 CNV deletion 23714750
esv3563281 CNV deletion 23714750
esv3563292 CNV deletion 23714750
esv3563303 CNV deletion 23714750
esv3586285 CNV loss 21293372
esv3586286 CNV loss 21293372
esv4385 CNV loss 18987735
esv5181 CNV loss 18987735
esv9112 CNV loss 19470904
nsv1005451 CNV gain 25217958
nsv1012476 CNV loss 25217958
nsv1077373 CNV deletion 25765185
nsv1077377 CNV deletion 25765185
nsv1078474 CNV deletion 25765185
nsv1122356 CNV deletion 24896259
nsv1146656 CNV deletion 26484159
nsv1176 CNV deletion 18451855
nsv1188 CNV deletion 18451855
nsv160318 CNV deletion 16902084
nsv436459 CNV deletion 17901297
nsv461705 CNV gain 19166990
nsv498671 CNV loss 21111241
nsv508260 CNV deletion 20534489
nsv528808 CNV gain 19592680
nsv546438 CNV gain 21841781
nsv546439 CNV gain 21841781
nsv819065 CNV loss 19587683
nsv823109 CNV gain 20364138
nsv830070 CNV gain 17160897
nsv830081 CNV gain 17160897
nsv955362 CNV deletion 24416366
nsv958707 CNV deletion 24416366
nsv997944 CNV gain 25217958

Variation tolerance for LEPR Gene

Residual Variation Intolerance Score: 11.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.99; 89.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LEPR Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for LEPR Gene

MalaCards: The human disease database

(49) MalaCards diseases for LEPR Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leptin receptor deficiency
  • obesity, morbid
leptin deficiency or dysfunction
  • lepd
anorexia nervosa
  • an
fatty liver disease
  • steatosis of liver
glucose intolerance
  • glucose: intolerance
- elite association - COSMIC cancer census association via MalaCards
Search LEPR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LEPR_HUMAN
  • Leptin receptor deficiency (LEPRD) [MIM:614963]: A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism. {ECO:0000269 PubMed:25751111, ECO:0000269 PubMed:9537324}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for LEPR Gene

early-onset morbid obesity,absence of pubertal development (hypogonadotropic hypogonadism),and reduced secretion of growth hormone and thyrotropin

Additional Disease Information for LEPR

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

Publications for LEPR Gene

  1. Contrasting association of a non-synonymous leptin receptor gene polymorphism with Wegener's granulomatosis and Churg-Strauss syndrome. (PMID: 20185531) Wieczorek S … Epplen JT (Rheumatology (Oxford, England) 2010) 3 23 41
  2. Leptin receptor polymorphisms interact with polyunsaturated fatty acids to augment risk of insulin resistance and metabolic syndrome in adults. (PMID: 20032477) Phillips CM … Roche HM (The Journal of nutrition 2010) 3 23 41
  3. Lack of association between the leptin receptor gene (LEPR) Gln223Arg polymorphism and late-onset Alzheimer disease. (PMID: 20220325) Utsunomiya K … Nakamura J (Alzheimer disease and associated disorders 2010) 3 23 41
  4. Candidate gene association study conditioning on individual ancestry in patients with type 2 diabetes and metabolic syndrome from Mexico City. (PMID: 20503258) Cruz M … Kumate J (Diabetes/metabolism research and reviews 2010) 3 23 41
  5. Genome-wide association study identifies polymorphisms in LEPR as determinants of plasma soluble leptin receptor levels. (PMID: 20167575) Sun Q … Hu FB (Human molecular genetics 2010) 3 23 41

ExternalLinks

View latest publications for LEPR gene in Mastermind

Products for LEPR Gene

Sources for LEPR Gene