• Gene id: 3953

Gene Summary

• Gene Symbol: LEPR   Gene   UCSC   Ensembl
• Aliases: CD295, LEP-R, LEPRD, OB-R, OBR
• Gene name: leptin receptor
• Alternate names: leptin receptor, OB receptor, huB219,
• Gene location: 1p31.3 (17228209: 17237596)     Exons: 10     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 601007

Protein Summary

• Protein general information: P48357  
  • Name: Leptin receptor (LEP R) (HuB219) (OB receptor) (OB R) (CD antigen CD295)
  • Length: 1165  
  • Mass: 132,494
• Sequence:

  MICQKFCVVLLHWEFIYVITAFNLSYPITPWRFKLSCMPPNSTYDYFLLPAGLSKNTSNSNGHYETAVEPKFNSS
  GTHFSNLSKTTFHCCFRSEQDRNCSLCADNIEGKTFVSTVNSLVFQQIDANWNIQCWLKGDLKLFICYVESLFKN
  LFRNYNYKVHLLYVLPEVLEDSPLVPQKGSFQMVHCNCSVHECCECLVPVPTAKLNDTLLMCLKITSGGVIFQSP
  LMSVQPINMVKPDPPLGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILP
  GSSYEVQVRGKRLDGPGIWSDWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKIVPSKEIVWWMNLAEK
  IPQSQYDVVSDHVSKVTFFNLNETKPRGKFTYDAVYCCNEHECHHRYAELYVIDVNINISCETDGYLTKMTCRWS
  TSTIQSLAESTLQLRYHRSSLYCSDIPSIHPISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSP
  PTCVLPDSVVKPLPPSSVKAEITINIGLLKISWEKPVFPENNLQFQIRYGLSGKEVQWKMYEVYDAKSKSVSLPV
  PDLCAVYAVQVRCKRLDGLGYWSNWSNPAYTVVMDIKVPMRGPEFWRIINGDTMKKEKNVTLLWKPLMKNDSLCS
  VQRYVINHHTSCNGTWSEDVGNHTKFTFLWTEQAHTVTVLAINSIGASVANFNLTFSWPMSKVNIVQSLSAYPLN
  SSCVIVSWILSPSDYKLMYFIIEWKNLNEDGEIKWLRISSSVKKYYIHDHFIPIEKYQFSLYPIFMEGVGKPKII
  NSFTQDDIEKHQSDAGLYVIVPVIISSSILLLGTLLISHQRMKKLFWEDVPNPKNCSWAQGLNFQKPETFEHLFI
  KHTASVTCGPLLLEPETISEDISVDTSWKNKDEMMPTTVVSLLSTTDLEKGSVCISDQFNSVNFSEAEGTEVTYE
  DESQRQPFVKYATLISNSKPSETGEEQGLINSSVTKCFSSKNSPLKDSFSNSSWEIEAQAFFILSDQHPNIISPH
  LTFSEGLDELLKLEGNFPEENNDKKSIYYLGVTSIKKRESGVLLTDKSRVSCPFPAPCLFTDIRVLQDSCSHFVE
  NNINLGTSSKKTFASYMPQFQTCSTQTHKIMENKMCDLTV

• Structural information:
  • Protein Domains: Fibronectin (239-333)
    Ig-like (331-429)
    Fibronectin (539-634)
    Fibronectin (639-732)
  • Interpro: IPR003961  IPR036116  IPR003529  IPR003531  IPR007110   IPR013783  IPR010457  IPR015752  
  • Prosite: PS50853 PS01353
  • CDD: cd00063
  • PDB: 3V6O
  • PDBsum: 3V6O
  • DIP: 6117
  • STRING: ENSP00000330393
• Other Databases: GeneCards:  LEPR  Malacards:  LEPR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001525	angiogenesis	IMP	biological process
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006112	energy reserve metabolic process	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0010507	negative regulation of autophagy	IDA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0019953	sexual reproduction	ISS	biological process
GO:0030217	T cell differentiation	ISS	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0038021	leptin receptor activity	ISS	molecular function
GO:0042593	glucose homeostasis	ISS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0044321	response to leptin	ISS	biological process
GO:0045721	negative regulation of gluconeogenesis	IEA	biological process
GO:0046850	regulation of bone remodeling	ISS	biological process
GO:0051346	negative regulation of hydrolase activity	IEA	biological process
GO:0060259	regulation of feeding behavior	ISS	biological process
GO:0097009	energy homeostasis	ISS	biological process
GO:0098868	bone growth	ISS	biological process
GO:2000505	regulation of energy homeostasis	ISS	biological process
GO:0001525	angiogenesis	IMP	biological process
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006112	energy reserve metabolic process	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0010507	negative regulation of autophagy	IDA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0019953	sexual reproduction	IEA	biological process
GO:0019953	sexual reproduction	ISS	biological process
GO:0030217	T cell differentiation	IEA	biological process
GO:0030217	T cell differentiation	ISS	biological process
GO:0033210	leptin-mediated signaling pathway	IEA	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0038021	leptin receptor activity	IEA	molecular function
GO:0038021	leptin receptor activity	IEA	molecular function
GO:0038021	leptin receptor activity	ISS	molecular function
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0044321	response to leptin	IEA	biological process
GO:0044321	response to leptin	ISS	biological process
GO:0045721	negative regulation of gluconeogenesis	IEA	biological process
GO:0046850	regulation of bone remodeling	IEA	biological process
GO:0046850	regulation of bone remodeling	ISS	biological process
GO:0051346	negative regulation of hydrolase activity	IEA	biological process
GO:0060259	regulation of feeding behavior	IEA	biological process
GO:0060259	regulation of feeding behavior	ISS	biological process
GO:0097009	energy homeostasis	IEA	biological process
GO:0097009	energy homeostasis	ISS	biological process
GO:0098868	bone growth	IEA	biological process
GO:0098868	bone growth	ISS	biological process
GO:2000505	regulation of energy homeostasis	IEA	biological process
GO:2000505	regulation of energy homeostasis	ISS	biological process
GO:0001525	angiogenesis	IMP	biological process
GO:0004888	transmembrane signaling receptor activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006112	energy reserve metabolic process	TAS	biological process
GO:0007166	cell surface receptor signaling pathway	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0010507	negative regulation of autophagy	IDA	biological process
GO:0019953	sexual reproduction	ISS	biological process
GO:0030217	T cell differentiation	ISS	biological process
GO:0033210	leptin-mediated signaling pathway	ISS	biological process
GO:0038021	leptin receptor activity	ISS	molecular function
GO:0042593	glucose homeostasis	ISS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0044321	response to leptin	ISS	biological process
GO:0046850	regulation of bone remodeling	ISS	biological process
GO:0060259	regulation of feeding behavior	ISS	biological process
GO:0097009	energy homeostasis	ISS	biological process
GO:0098868	bone growth	ISS	biological process
GO:2000505	regulation of energy homeostasis	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04152	AMPK signaling pathway
hsa04080	Neuroactive ligand-receptor interaction
hsa04060	Cytokine-cytokine receptor interaction
hsa04920	Adipocytokine signaling pathway
hsa04932	Non-alcoholic fatty liver disease

Diseases

Associated diseases	References
Cancer	GAD: 19692168
Cancer (Adenocarcinoma)	GAD: 18654948
Cancer (Adenoma)	GAD: 18086776
Cancer (bladder)	GAD: 19692168
Cancer (breast)	GAD: 12712467
Cancer (colon)	GAD: 18992263
Cancer (colorectal)	GAD: 19273568
Cancer (esophageal)	GAD: 20453000
Cancer (leukemia)	GAD: 17072067
Cancer (lung)	GAD: 18676680
Cancer (lymphoma)	GAD: 15159310
Cancer (prostate)	GAD: 12823393
Cancer (Squamous cell)	GAD: 18855010
Atherosclerosis	GAD: 16580675
Hypertension	GAD: 12050272
Cardiovascular disease	GAD: 19023160
Asthma	GAD: 19191138
Churg-Strauss Syndrome	GAD: 20185531
Diabetes	GAD: 10947884
Fatty liver	GAD: 19401628
Obesity	GAD: 17229951
Insulin resistance	GAD: 10490782
Obesity	GAD: 9144432
Metabolic diseases	GAD: 18282109
Hypercholesterolemia	GAD: 14625131
Metabolic syndrome	GAD: 19344216
Obesity	GAD: 10805501
Bone diseases	GAD: 15834329
Alzheimer's disease	GAD: 19141999
Autism	GAD: 19058789
Bulimia	GAD: 20468064
Eating disorders	GAD: 17192493
Eating disorders	GAD: 17192493
Psychological disorders	GAD: 19086053
Several psychiatric disorders	GAD: 19086053
Chronic renal failure	GAD: 21085059
Polycystic ovary syndrome (PCOS)	GAD: 11006314
Preeclampsia	GAD: 15544427
Female infertility	INFBASE: 22999554
Implantation failure	INFBASE: 22265003
Endometriosis	INFBASE: 15465848
Male factor infertility	MIK: 17212806
Varicocele	MIK: 17212806
Oligozoospermia	MIK: 17212806
Obstructive azoospermia	MIK: 17212806
Sertoli cell only syndrome (SCOS)	MIK: 17212806
Chronic obstructive pulmonary disease (COPD)	GAD: 19196818
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 17212806
Obstructive azoospermia	MIK: 17212806
Sertoli cell-only syndrome (SCO)	MIK: 17212806
Oligozoospermia	MIK: 17212806
Varicocele	MIK: 17212806

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17212806	Obstructive azoospermia, Sertoli cell-only syndrome (SCO), oligospermia, varicocele			51(5 fertile volunteers, 8 with obstructive azoospermia (OA), 6 with Sertoli cell-only syndrome (SCO), 32 oligospermic patients with varicocele testis)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq