LEPR (leptin receptor)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3953
Gene name Gene Name - the full gene name approved by the HGNC.
Leptin receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LEPR
Synonyms (NCBI Gene) Gene synonyms aliases
CD295, LEP-R, LEPRD, OB-R, OBR
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.3
Summary Summary of gene provided in NCBI Entrez 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 regulate
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs144159890 G>A Likely-pathogenic Coding sequence variant, missense variant
rs193922650 C>G,T Likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs765551290 A>T Pathogenic Stop gained, coding sequence variant
rs945135468 G>A Pathogenic-likely-pathogenic Coding sequence variant, stop gained
rs1446132233 C>A,G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(120)
miRTarBase ID miRNA Experiments Reference
MIRT017009 hsa-miR-335-5p Microarray 18185580
MIRT037290 hsa-miR-877-5p CLASH 23622248
MIRT1107495 hsa-miR-1245 CLIP-seq
MIRT1107496 hsa-miR-129-5p CLIP-seq
MIRT1107497 hsa-miR-142-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(56)
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IMP 21771332
GO:0004888 Function Transmembrane signaling receptor activity TAS 9537324
GO:0004896 Function Cytokine receptor activity IBA
GO:0004896 Function Cytokine receptor activity IEA
GO:0005515 Function Protein binding IPI 11279102, 16482222, 17474147, 18042720, 19910644, 20347812, 22405007, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601007 6554 ENSG00000116678
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P48357
Protein name Leptin receptor (LEP-R) (HuB219) (OB receptor) (OB-R) (CD antigen CD295)
Protein 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
PDB 3V6O , 6E2P , 7Z3Q , 8AVE , 8AVF , 8AVO , 8X80 , 8X81 , 8X85
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18589 ObR_Ig 126 → 233 Obesity receptor immunoglobulin like domain Domain
PF06328 Lep_receptor_Ig 329 → 420 Ig-like C2-type domain Domain
PF18589 ObR_Ig 431 → 533 Obesity receptor immunoglobulin like domain Domain
Tissue specificity 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 hy
Sequence 
MICQKFCVVLLHWEFIYVITAFNLSYPITPWRFKLSCMPPNSTYDYFLLPAGLSKNTSNS
NGHYETAVEPKFNSSGTHFSNLSKTTFHCCFRSEQDRNCSLCADNIEGKTFVSTVNSLVF
QQIDANWNIQCWLKGDLKLFICYVESLFKNLFRNYNYKVHLLYVLPEVLEDSPLVPQKGS
FQMVHCNCSVHECCECLVPVPTAKLNDTLLMCLKITSGGVIFQSPLMSVQPINMVKPDPP
LGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILP
GSSYEVQVRGKRLDGPGIWSDWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKI
VPSKEIVWWMNLAEKIPQSQYDVVSDHVSKVTFFNLNETKPRGKFTYDAVYCCNEHECHH
RYAELYVIDVNINISCETDGYLTKMTCRWSTSTIQSLAESTLQLRYHRSSLYCSDIPSIH
PISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDSVVKPLPP
SSVKAEITINIGLLKISWEKPVFPENNLQFQIRYGLSGKEVQWKMYEVYDAKSKSVSLPV
PDLCAVYAVQVRCKRLDGLGYWSNWSNPAYTVVMDIKVPMRGPEFWRIINGDTMKKEKNV
TLLWKPLMKNDSLCSVQRYVINHHTSCNGTWSEDVGNHTKFTFLWTEQAHTVTVLAINSI
GASVANFNLTFSWPMSKVNIVQSLSAYPLNSSCVIVSWILSPSDYKLMYFIIEWKNLNED
GEIKWLRISSSVKKYYIHDHFIPIEKYQFSLYPIFMEGVGKPKIINSFTQDDIEKHQSDA
GLYVIVPVIISSSILLLGTLLISHQRMKKLFWEDVPNPKNCSWAQGLNFQKPETFEHLFI
KHTASVTCGPLLLEPETISEDISVDTSWKNKDEMMPTTVVSLLSTTDLEKGSVCISDQFN
SVNFSEAEGTEVTYEDESQRQPFVKYATLISNSKPSETGEEQGLINSSVTKCFSSKNSPL
KDSFSNSSWEIEAQAFFILSDQHPNIISPHLTFSEGLDELLKLEGNFPEENNDKKSIYYL
GVTSIKKRESGVLLTDKSRVSCPFPAPCLFTDIRVLQDSCSHFVENNINLGTSSKKTFAS
YMPQFQTCSTQTHKIMENKMCDLTV
Sequence length 1165
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Hormone signaling
AMPK signaling pathway
JAK-STAT signaling pathway
Adipocytokine signaling pathway
Non-alcoholic fatty liver disease 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Obesity obesity, obesity due to leptin receptor gene deficiency rs193922650, rs1553174844, rs1557670950, rs144159890, rs1474810899 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Monogenic Diabetes monogenic diabetes N/A N/A ClinVar
Non-alcoholic Fatty Liver Disease Nonalcoholic steatohepatitis N/A N/A GWAS
Show/Hide Text Mining Associations (175)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 38275620
Abortion Spontaneous Associate 34407095
Acute Coronary Syndrome Associate 19023160
Adenocarcinoma of Lung Associate 23111975
Adenoma Associate 21166956
Adrenal Gland Diseases Associate 39201370
Adrenal Gland Neoplasms Associate 39201370
Albuminuria Associate 15189365
Alzheimer Disease Associate 23895348
Amebiasis Associate 21393862