LEPR (leptin receptor)

Gene

• Entrez ID: 3953
• Gene name: Leptin receptor
• Gene symbol: LEPR
• Synonyms: CD295, LEP-R, LEPRD, OB-R, OBR
• 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 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
rs1474810899	G>A,T	Pathogenic	Splice donor variant
rs1553174844	->AG	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1557670950	A>C	Pathogenic	Coding sequence variant, missense variant
rs1557670990	A>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

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
MIRT1107498	hsa-miR-1914	CLIP-seq
MIRT1107499	hsa-miR-204	CLIP-seq
MIRT1107500	hsa-miR-211	CLIP-seq
MIRT1107501	hsa-miR-3137	CLIP-seq
MIRT1107502	hsa-miR-3940-5p	CLIP-seq
MIRT1107503	hsa-miR-4265	CLIP-seq
MIRT1107504	hsa-miR-4287	CLIP-seq
MIRT1107505	hsa-miR-4296	CLIP-seq
MIRT1107506	hsa-miR-4322	CLIP-seq
MIRT1107507	hsa-miR-433	CLIP-seq
MIRT1107508	hsa-miR-4417	CLIP-seq
MIRT1107509	hsa-miR-4469	CLIP-seq
MIRT1107510	hsa-miR-4507	CLIP-seq
MIRT1107511	hsa-miR-450b-5p	CLIP-seq
MIRT1107512	hsa-miR-4685-3p	CLIP-seq
MIRT1107513	hsa-miR-4760-5p	CLIP-seq
MIRT1107514	hsa-miR-507	CLIP-seq
MIRT1107515	hsa-miR-557	CLIP-seq
MIRT1107516	hsa-miR-3671	CLIP-seq
MIRT1107517	hsa-miR-3674	CLIP-seq
MIRT1107518	hsa-miR-3941	CLIP-seq
MIRT1107519	hsa-miR-425	CLIP-seq
MIRT1107520	hsa-miR-4643	CLIP-seq
MIRT1107521	hsa-miR-4659a-3p	CLIP-seq
MIRT1107522	hsa-miR-4659b-3p	CLIP-seq
MIRT1107523	hsa-miR-466	CLIP-seq
MIRT1107524	hsa-miR-4672	CLIP-seq
MIRT1107525	hsa-miR-4680-3p	CLIP-seq
MIRT1107526	hsa-miR-4732-5p	CLIP-seq
MIRT1107513	hsa-miR-4760-5p	CLIP-seq
MIRT1107527	hsa-miR-4789-3p	CLIP-seq
MIRT1107528	hsa-miR-4789-5p	CLIP-seq
MIRT1107529	hsa-miR-607	CLIP-seq
MIRT1550704	hsa-miR-105	CLIP-seq
MIRT1550705	hsa-miR-1182	CLIP-seq
MIRT1550706	hsa-miR-200b	CLIP-seq
MIRT1550707	hsa-miR-200c	CLIP-seq
MIRT1550708	hsa-miR-205	CLIP-seq
MIRT1550709	hsa-miR-3120-5p	CLIP-seq
MIRT1550710	hsa-miR-3154	CLIP-seq
MIRT1550711	hsa-miR-3661	CLIP-seq
MIRT1550712	hsa-miR-3668	CLIP-seq
MIRT1107516	hsa-miR-3671	CLIP-seq
MIRT1107517	hsa-miR-3674	CLIP-seq
MIRT1550713	hsa-miR-4274	CLIP-seq
MIRT1550714	hsa-miR-429	CLIP-seq
MIRT1550715	hsa-miR-451b	CLIP-seq
MIRT1107526	hsa-miR-4732-5p	CLIP-seq
MIRT1550716	hsa-miR-4766-5p	CLIP-seq
MIRT1550717	hsa-miR-4793-5p	CLIP-seq
MIRT1550718	hsa-miR-548a-3p	CLIP-seq
MIRT1550719	hsa-miR-548e	CLIP-seq
MIRT1550720	hsa-miR-548f	CLIP-seq
MIRT1107529	hsa-miR-607	CLIP-seq
MIRT1550721	hsa-miR-622	CLIP-seq
MIRT1550722	hsa-miR-631	CLIP-seq
MIRT1920585	hsa-miR-374a	CLIP-seq
MIRT1920586	hsa-miR-374b	CLIP-seq
MIRT1920587	hsa-miR-4289	CLIP-seq
MIRT1920585	hsa-miR-374a	CLIP-seq
MIRT1920586	hsa-miR-374b	CLIP-seq
MIRT1920587	hsa-miR-4289	CLIP-seq
MIRT2029691	hsa-miR-3160-5p	CLIP-seq
MIRT2029692	hsa-miR-371-5p	CLIP-seq
MIRT2029693	hsa-miR-371b-5p	CLIP-seq
MIRT2029694	hsa-miR-513c	CLIP-seq
MIRT2029695	hsa-miR-514b-5p	CLIP-seq
MIRT1550706	hsa-miR-200b	CLIP-seq
MIRT1550707	hsa-miR-200c	CLIP-seq
MIRT2260575	hsa-miR-30a	CLIP-seq
MIRT2260576	hsa-miR-30b	CLIP-seq
MIRT2260577	hsa-miR-30c	CLIP-seq
MIRT2260578	hsa-miR-30d	CLIP-seq
MIRT2260579	hsa-miR-30e	CLIP-seq
MIRT2260580	hsa-miR-34b	CLIP-seq
MIRT2260581	hsa-miR-3654	CLIP-seq
MIRT2260582	hsa-miR-377	CLIP-seq
MIRT2260583	hsa-miR-378	CLIP-seq
MIRT2260584	hsa-miR-378b	CLIP-seq
MIRT2260585	hsa-miR-378c	CLIP-seq
MIRT2260586	hsa-miR-378d	CLIP-seq
MIRT2260587	hsa-miR-378e	CLIP-seq
MIRT2260588	hsa-miR-378f	CLIP-seq
MIRT2260589	hsa-miR-378h	CLIP-seq
MIRT2260590	hsa-miR-378i	CLIP-seq
MIRT2260591	hsa-miR-422a	CLIP-seq
MIRT1550714	hsa-miR-429	CLIP-seq
MIRT2260592	hsa-miR-4495	CLIP-seq
MIRT2260593	hsa-miR-4641	CLIP-seq
MIRT2260594	hsa-miR-4666-3p	CLIP-seq
MIRT2260595	hsa-miR-4760-3p	CLIP-seq
MIRT2260596	hsa-miR-485-3p	CLIP-seq
MIRT2260597	hsa-miR-586	CLIP-seq
MIRT2560596	hsa-miR-1305	CLIP-seq
MIRT2560597	hsa-miR-191	CLIP-seq
MIRT1550710	hsa-miR-3154	CLIP-seq
MIRT2560598	hsa-miR-34c-3p	CLIP-seq
MIRT1107517	hsa-miR-3674	CLIP-seq
MIRT2560599	hsa-miR-4670-3p	CLIP-seq
MIRT1107526	hsa-miR-4732-5p	CLIP-seq
MIRT2560600	hsa-miR-498	CLIP-seq
MIRT1550718	hsa-miR-548a-3p	CLIP-seq
MIRT1550719	hsa-miR-548e	CLIP-seq
MIRT1550720	hsa-miR-548f	CLIP-seq
MIRT2560601	hsa-miR-570	CLIP-seq
MIRT2560602	hsa-miR-642b	CLIP-seq
MIRT2560596	hsa-miR-1305	CLIP-seq
MIRT2560597	hsa-miR-191	CLIP-seq
MIRT2560598	hsa-miR-34c-3p	CLIP-seq
MIRT2560599	hsa-miR-4670-3p	CLIP-seq
MIRT2560600	hsa-miR-498	CLIP-seq
MIRT1550718	hsa-miR-548a-3p	CLIP-seq
MIRT1550719	hsa-miR-548e	CLIP-seq
MIRT1550720	hsa-miR-548f	CLIP-seq
MIRT2560601	hsa-miR-570	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IMP	21771332
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	27037668
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	9537324
GO:0004896	Function	Cytokine receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11279102, 17474147, 18042720, 19910644, 28717967
GO:0005576	Component	Extracellular region	IEA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0006112	Process	Energy reserve metabolic process	TAS	9537324
GO:0006909	Process	Phagocytosis	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	9537324
GO:0007275	Process	Multicellular organism development	TAS	9537324
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0010507	Process	Negative regulation of autophagy	IDA	25060689
GO:0014009	Process	Glial cell proliferation	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0017046	Function	Peptide hormone binding	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019953	Process	Sexual reproduction	ISS
GO:0019955	Function	Cytokine binding	IBA	21873635
GO:0030217	Process	T cell differentiation	ISS
GO:0033210	Process	Leptin-mediated signaling pathway	IBA	21873635
GO:0033210	Process	Leptin-mediated signaling pathway	IDA	27037668
GO:0033210	Process	Leptin-mediated signaling pathway	ISS
GO:0038021	Function	Leptin receptor activity	IDA	20977476, 27037668
GO:0038021	Function	Leptin receptor activity	ISS
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042802	Function	Identical protein binding	IPI	16116438
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	IDA	23382219
GO:0044321	Process	Response to leptin	ISS
GO:0045721	Process	Negative regulation of gluconeogenesis	IEA
GO:0046850	Process	Regulation of bone remodeling	ISS
GO:0051049	Process	Regulation of transport	IDA	20977476
GO:0051346	Process	Negative regulation of hydrolase activity	IEA
GO:0060259	Process	Regulation of feeding behavior	ISS
GO:0097009	Process	Energy homeostasis	ISS
GO:0098868	Process	Bone growth	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	11003997
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653

Other IDs

• MIM: 601007
• HGNC: 6554
• e!Ensembl: ENSG00000116678

Protein

• 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

• Sequence:

  MICQKFCVVLLHWEFIYVITAFNLSYPITPWRFKLSCMPPNSTYDYFLLPAGLSKNTSNS
  NGHYETAVEPKFNSSGTHFSNLSKTTFHCCFRSEQDRNCSLCADNIEGKTFVSTVNSLVF
  QQIDANWNIQCWLKGDLKLFICYVESLFKNLFRNYNYKVHLLYVLPEVLEDSPLVPQKGS
  FQMVHCNCSVHECCECLVPVPTAKLNDTLLMCLKITSGGVIFQSPLMSVQPINMVKPDPP
  LGLHMEITDDGNLKISWSSPPLVPFPLQYQVKYSENSTTVIREADKIVSATSLLVDSILP
  GSSYEVQVRGKRLDGPGIWSDWSTPRVFTTQDVIYFPPKILTSVGSNVSFHCIYKKENKI
  VPSKEIVWWMNLAEKIPQSQYDVVSDHVSKVTFFNLNETKPRGKFTYDAVYCCNEHECHH
  RYAELYVIDVNINISCETDGYLTKMTCRWSTSTIQSLAESTLQLRYHRSSLYCSDIPSIH
  PISEPKDCYLQSDGFYECIFQPIFLLSGYTMWIRINHSLGSLDSPPTCVLPDSVVKPLPP
  SSVKAEITINIGLLKISWEKPVFPENNLQFQIRYGLSGKEVQWKMYEVYDAKSKSVSLPV
  PDLCAVYAVQVRCKRLDGLGYWSNWSNPAYTVVMDIKVPMRGPEFWRIINGDTMKKEKNV
  TLLWKPLMKNDSLCSVQRYVINHHTSCNGTWSEDVGNHTKFTFLWTEQAHTVTVLAINSI
  GASVANFNLTFSWPMSKVNIVQSLSAYPLNSSCVIVSWILSPSDYKLMYFIIEWKNLNED
  GEIKWLRISSSVKKYYIHDHFIPIEKYQFSLYPIFMEGVGKPKIINSFTQDDIEKHQSDA
  GLYVIVPVIISSSILLLGTLLISHQRMKKLFWEDVPNPKNCSWAQGLNFQKPETFEHLFI
  KHTASVTCGPLLLEPETISEDISVDTSWKNKDEMMPTTVVSLLSTTDLEKGSVCISDQFN
  SVNFSEAEGTEVTYEDESQRQPFVKYATLISNSKPSETGEEQGLINSSVTKCFSSKNSPL
  KDSFSNSSWEIEAQAFFILSDQHPNIISPHLTFSEGLDELLKLEGNFPEENNDKKSIYYL
  GVTSIKKRESGVLLTDKSRVSCPFPAPCLFTDIRVLQDSCSHFVENNINLGTSSKKTFAS
  YMPQFQTCSTQTHKIMENKMCDLTV

• Sequence length: 1165