Gene Gene information from NCBI Gene database.
Entrez ID 3953
Gene name Leptin receptor
Gene symbol LEPR
Synonyms (NCBI Gene)
CD295LEP-RLEPRDOB-ROBR
Chromosome 1
Chromosome location 1p31.3
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601007 6554 ENSG00000116678
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
FQMVHCNCSVHECCECLVPVPTAKLNDTLLMCLKITSGGVIFQSPLMSVQPIN
MVKPDPP
LGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILP
GSSYEVQVRGKRLDGPGIWSDWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKI
VPSKEIVWWMNLAEKIPQSQYDVVSDHVSKVTFFNLNETKPRGKFTYDAVYCCNEHECHH

RYAELYVIDVNINISCETDGYLTKMTCRWSTSTIQSLAESTLQLRYHRSSLYCSDIPSIH
PISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDS
VVKPLPP
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.
  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
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
294
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Early onset severe obesity Likely pathogenic rs2100932956 RCV006280922
LEPR-related disorder Likely pathogenic; Pathogenic rs1469336975, rs945135468, rs1557670990, rs144159890 RCV004531970
RCV004735562
RCV004735783
RCV000778251
Obesity Likely pathogenic rs193922650 RCV000030138
Obesity due to congenital leptin deficiency Likely pathogenic rs866641122 RCV004577246
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs4655566, rs70940803 RCV005916649
RCV005920242
Cervical cancer Benign rs4655566 RCV005916650
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs70940803 RCV005920247
Clear cell carcinoma of kidney Uncertain significance rs369475236 RCV005927104
Associations from Text MiningDisease 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