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Aliases for LEPR Gene

Aliases for LEPR Gene

  • Leptin Receptor 2 3
  • OBR 3 4 6
  • OB Receptor 3 4
  • HuB219 3 4
  • LEPRD 3 6
  • LEP-R 3 4
  • OB-R 3 4
  • CD295 Antigen 4
  • CD295 3
  • 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]

GeneCards Summary for LEPR Gene

LEPR (Leptin Receptor) is a Protein Coding gene. Diseases associated with LEPR include obesity, morbid, due to leptin receptor deficiency and lipoblastoma. Among its related pathways are Signaling by GPCR and Signaling events mediated by PTP1B. GO annotations related to this gene include identical protein binding and cytokine receptor activity.

UniProtKB/Swiss-Prot for LEPR Gene

  • Receptor for obesity factor (leptin). On ligand binding, mediates signaling through JAK2/STAT3. Involved in the regulation of fat metabolism and, in a hematopoietic pathway, required for normal lymphopoiesis. May play a role in reproduction. Can also mediate the ERK/FOS signaling pathway (By similarity).

Tocris Summary for LEPR Gene

  • Leptin was initially thought to have a role in energy homeostasis and obesity. More recently, it has also been implicated in the regulation of reproduction, glucose homeostasis, bone formation, wound healing and the immune system. Leptin acts via leptin receptors, which are transmembrane catalytic receptors found on NPY/AgRP and alpha-MSH/CART neurons in hypothalamic nuclei. Leptin receptors (Ob-Rs) are coded for by one human gene that produces six different isoforms; Ob-Ra - Ob-Rf. Ob-Rs exist as constitutive dimers at physiological expression levels. Only the Ob-Rb isoform can transduce intracellular signals and does so through activation of the JAK2/STAT3, PI 3-K and MAPK signaling cascades. Activation of Ob-Rs mediates transcriptional regulation of the hypothalamic melanocortin pathway and downregulates endocannabinoid expression. Leptin resistance has been proposed as a pathophysiological mechanism of obesity. In obese individuals, Ob-Ra (which is involved in active transport of leptin across the blood-brain barrier) expression is downregulated and the individual may be unresponsive to leptin signals. Ob-R antagonists are of great interest in the development of pharmacological treatments for obesity.

Gene Wiki entry for LEPR Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LEPR Gene

Genomics for LEPR Gene

Regulatory Elements for LEPR Gene

Transcription factor binding sites by QIAGEN in the LEPR gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LEPR Gene

Start:
65,420,652 bp from pter
End:
65,641,559 bp from pter
Size:
220,908 bases
Orientation:
Plus strand

Genomic View for LEPR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LEPR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LEPR Gene

Proteins for LEPR Gene

  • 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:
    • On leptin stimulation, homodimerizes. The phosphorylated receptor binds a number of SH2 domain-containing proteins such as STAT3, PTPN11, and SOCS3 (By similarity). Interaction with SOCS3 inhibits LRb signaling (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

Proteomics data for LEPR Gene at MOPED

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 and, for interaction with SOCS3 (By similarity). Phosphorylation on Tyr-1141 is required for STAT3 binding/activation.
  • Glycosylation at Asn23, Asn41, Asn56, Asn73, Asn81, Asn98, Asn187, Asn206, Asn276, Asn347, Asn397, Asn516, Asn624, Asn659, Asn688, Asn697, Asn728, and Asn750
  • Modification sites at PhosphoSitePlus

Antibody Products

Protein Products

No data available for DME Specific Peptides for LEPR Gene

Domains for LEPR Gene

Gene Families for LEPR Gene

HGNC:
  • CD :CD molecules
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
IUPHAR :

Suggested Antigen Peptide Sequences for LEPR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48357

UniProtKB/Swiss-Prot:

LEPR_HUMAN :
  • P48357
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
  • Contains 4 fibronectin type-III domains.
  • Contains 1 Ig-like (immunoglobulin-like) domain.
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

Molecular function for LEPR Gene

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
UniProtKB/Swiss-Prot Function: Receptor for obesity factor (leptin). On ligand binding, mediates signaling through JAK2/STAT3. Involved in the regulation of fat metabolism and, in a hematopoietic pathway, required for normal lymphopoiesis. May play a role in reproduction. Can also mediate the ERK/FOS signaling pathway (By similarity).

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 IEA --
GO:0005515 protein binding IPI 11279102
GO:0042802 identical protein binding IPI 20347812
genes like me logo Genes that share ontologies with LEPR: view
genes like me logo Genes that share phenotypes with LEPR: view

Animal Models for LEPR Gene

MGI Knock Outs for LEPR:

Animal Model Products

CRISPR Products

miRNA for LEPR Gene

miRTarBase miRNAs that target LEPR

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LEPR

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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.
Isoform E: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LEPR Gene COMPARTMENTS Subcellular localization image for LEPR gene
Compartment Confidence
plasma membrane 5
extracellular 4
nucleus 3
endoplasmic reticulum 1
peroxisome 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 TAS --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IDA 23382219
genes like me logo Genes that share ontologies with LEPR: view

Pathways for LEPR Gene

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

PCR Array Products

Gene Ontology (GO) - Biological Process for LEPR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS 9537324
GO:0007166 cell surface receptor signaling pathway TAS 9537324
GO:0007275 multicellular organismal development TAS 9537324
GO:0008203 cholesterol metabolic process IEA --
GO:0019221 cytokine-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with LEPR: view

Compounds for LEPR Gene

(1) Tocris Compounds for LEPR Gene

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

(1) IUPHAR Ligand for LEPR Gene

Ligand Type Action Affinity Pubmed IDs
leptin Agonist Agonist

(49) Novoseek inferred chemical compound relationships for LEPR Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 46.9 5
glucose 45.1 41
tyrosine 36.7 23
gp 130 30.4 6
gnrh 29.8 5

(1) PharmGKB related drug/compound annotations for LEPR Gene

Drug/compound Annotation
simvastatin CA
genes like me logo Genes that share compounds with LEPR: view

Transcripts for LEPR Gene

Unigene Clusters for LEPR Gene

Leptin receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LEPR

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for LEPR

Flow Cytometry 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
ECgene alternative splicing isoforms for
LEPR

Expression for LEPR Gene

mRNA expression in normal human tissues for LEPR Gene

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

This gene is overexpressed in Liver (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for LEPR Gene

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

In Situ Assay Products

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 35
  • 99.31 (n)
  • 98.88 (a)
LEPR 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LEPR 35
  • 88.65 (n)
  • 83.32 (a)
OB-R 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LEPR 35
  • 88.46 (n)
  • 83.76 (a)
LEPR 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lepr 35
  • 81.83 (n)
  • 75.71 (a)
Lepr 16
Lepr 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia LEPR 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LEPR 36
  • 51 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lepr 35
  • 81.77 (n)
  • 75.97 (a)
chicken
(Gallus gallus)
Aves LEPR 35
  • 60.78 (n)
  • 48.93 (a)
LEPR 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LEPR 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lepr 35
  • 56.11 (n)
  • 42.37 (a)
zebrafish
(Danio rerio)
Actinopterygii lepr 35
  • 45.02 (n)
  • 31.54 (a)
lepr 36
  • 27 (a)
OneToOne
Species with no ortholog for LEPR:
  • 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)
  • 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 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 LEPR Gene

ENSEMBL:
Gene Tree for LEPR (if available)
TreeFam:
Gene Tree for LEPR (if available)

Paralogs for LEPR Gene

No data available for Paralogs for LEPR Gene

Variants for LEPR Gene

Sequence variations from dbSNP and Humsavar for LEPR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs970467 -- 65,441,079(-) ACAGA(A/G)TTTAA intron-variant
rs970468 -- 65,440,807(-) AATCA(G/T)GCCAC intron-variant
rs1011527 -- 65,522,410(+) CACAC(A/G)ACTGG intron-variant
rs1022981 -- 65,534,351(+) AATGA(A/G)TACAG intron-variant
rs1137099 -- 65,570,685(+) CCAAA(A/G)CAACT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv830070 CNV Gain 17160897
nsv528808 CNV Gain 19592680
nsv830081 CNV Gain 17160897
esv2521430 CNV Deletion 19546169
esv2015767 CNV Deletion 18987734
esv4385 CNV Deletion 18987735
esv2749218 CNV Deletion 23290073
esv2630441 CNV Deletion 19546169
nsv160318 CNV Loss 16902084
nsv1176 CNV Loss 18451855
nsv870752 CNV Gain 21882294
nsv823109 CNV Gain 20364138
nsv870656 CNV Gain 21882294
nsv461705 CNV Gain 19166990
dgv232n71 CNV Gain 21882294
esv2615796 CNV Deletion 19546169
nsv508260 CNV Loss 20534489
nsv1188 CNV Loss 18451855
nsv436459 CNV Deletion 17901297
esv2661943 CNV Deletion 23128226
nsv498671 CNV Loss 21111241
esv2749229 CNV Deletion 23290073
esv2580170 CNV Deletion 19546169
esv1978491 CNV Deletion 18987734
esv28812 CNV Loss 19812545
esv2665242 CNV Deletion 23128226
esv2464074 CNV Loss 19546169
esv2572647 CNV Insertion 19546169
esv269871 CNV Insertion 20981092
esv274382 CNV Insertion 20981092
esv1474810 CNV Insertion 17803354
esv2079710 CNV Deletion 18987734
esv2749240 CNV Deletion 23290073
esv5181 CNV Deletion 18987735
esv2749252 CNV Deletion 23290073
esv9112 CNV Loss 19470904
nsv819065 CNV Loss 19587683

Relevant External Links for LEPR Gene

HapMap Linkage Disequilibrium report
LEPR
Human Gene Mutation Database (HGMD)
LEPR

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

Disorders for LEPR Gene

(1) OMIM Diseases for LEPR Gene (601007)

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:9537324}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for LEPR Gene

(79) Novoseek inferred disease relationships for LEPR Gene

Disease -log(P) Hits PubMed IDs
obesity 82.9 131
insulin resistance 56.8 26
anorexia nervosa 50.4 11
kallmann syndrome 39.6 2
insulin sensitivity 39 5

Genatlas disease for LEPR Gene

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

Relevant External Links for LEPR

Genetic Association Database (GAD)
LEPR
Human Genome Epidemiology (HuGE) Navigator
LEPR
genes like me logo Genes that share disorders with LEPR: view

Publications for LEPR Gene

  1. Amino acid variants in the human leptin receptor: lack of association to juvenile onset obesity. (PMID: 9144432) Echwald S.M. … Pedersen O. (Biochem. Biophys. Res. Commun. 1997) 3 4 23 48
  2. Structure and sequence variation at the human leptin receptor gene in lean and obese Pima Indians. (PMID: 9158141) Thompson D.B. … Bogardus C. (Hum. Mol. Genet. 1997) 3 4 23
  3. Enhancing leptin response by preventing SH2-containing phosphatase 2 interaction with Ob receptor. (PMID: 9600917) Carpenter L.R. … Stahl N. (Proc. Natl. Acad. Sci. U.S.A. 1998) 3 4 23
  4. Polymorphisms in the leptin receptor gene, body composition and fat distribution in overweight and obese women. (PMID: 11360155) Wauters M. … Bouchard C. (Int. J. Obes. Relat. Metab. Disord. 2001) 3 23 48
  5. LEPR gene polymorphisms: associations with overweight, fat mass and response to diet in women. (PMID: 11380591) MammA"s O. … Fumeron F. (Eur. J. Clin. Invest. 2001) 3 23 48

Products for LEPR Gene

Sources for LEPR Gene

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