Gene Report

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Basic Info

Approved Symbol	LEPR
Symbol Alias	OBR, CD295
Approved Name	leptin receptor
Location	1p31
Position	chr1:65420652-65641559, 1
External Links	HGNC: 6554 Entrez Gene: 3953 Ensembl: ENSG00000116678 UCSC: uc001dci.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Gratacos, M.,2009	SNP: rs9436299 Other variant: LEPR_hcv518168	Nominal associations with bipolar disorder was observed.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0043235	receptor complex	cellular component	IDA[23382219]	20
GO:0007275	multicellular organismal development	biological process	TAS[9537324]	24
GO:0005886	plasma membrane	cellular component	TAS	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008203	cholesterol metabolic process	biological process	IEA	5
GO:0007166	cell surface receptor signaling pathway	biological process	TAS[9537324]	23
GO:0051346	negative regulation of hydrolase activity	biological process	IEA	4
GO:0005576	extracellular region	cellular component	IEA	97
GO:0005515	protein binding	molecular function	IPI[11279102]	563
GO:0004888	transmembrane signaling receptor activity	molecular function	TAS[9537324]	10
GO:0019221	cytokine-mediated signaling pathway	biological process	IEA	23
GO:0004896	cytokine receptor activity	molecular function	IEA	2
GO:0006112	energy reserve metabolic process	biological process	TAS[9537324]	19
GO:0042802	identical protein binding	molecular function	IPI[20347812]	44
GO:0045721	negative regulation of gluconeogenesis	biological process	IEA	4

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04920	Adipocytokine signaling pathway	8

ID	Name	No. of Genes in BDgene
hsa04080	Neuroactive ligand-receptor interaction	92
hsa04060	Cytokine-cytokine receptor interaction	17
hsa04630	Jak-STAT signaling pathway	14

Gene related BioCarta pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
leptinPathway	Reversal of Insulin Resistance by Leptin	2

Gene related interactors from protein-protein interactions data in HPRD (count: 12)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
LEPR	SOCS3	NO	in vitro;in vivo	11018044
LEPR	PIN1	NO	yeast 2-hybrid	16169070
LEPR	SNX1	NO	in vivo	9819414
LEPR	DGKZ	YES	in vitro;in vivo;yeast 2-hybrid	11078732
LEPR	SNX6	NO	in vitro;in vivo	11279102
LEPR	SNX4	YES	in vivo	9819414
LEPR	JAK2	NO	in vitro	8608603
LEPR	SNX2	NO	in vitro;in vivo	9819414
LEPR	PTPN11	NO	in vivo	11018044
LEPR	LEP	NO	in vivo	8608603
LEPR	STAT3	NO	in vivo	8608603
LEPR	CLU	NO	in vitro	12824284

Related other genetic factors

Gene related SNPs (count: 23)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9436299	chr1:65427205 - 65427205(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs9436300	chr1:65429581 - 65429581(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7534511	chr1:65429447 - 65429447(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7533108	chr1:65512161 - 65512161(1)	intron_variant
rs10889558	chr1:65511283 - 65511283(1)	intron_variant
rs1475398	chr1:65517574 - 65517574(1)	intron_variant
rs1171274	chr1:65515155 - 65515155(1)	intron_variant
rs10889557	chr1:65505021 - 65505021(1)	intron_variant
rs7516840	chr1:65506912 - 65506912(1)	intron_variant
rs12068561	chr1:65508270 - 65508270(1)	intron_variant
rs1327116	chr1:65510368 - 65510368(1)	intron_variant
rs1327121	chr1:65491654 - 65491654(1)	intron_variant; non_coding_transcript_variant
rs11208654	chr1:65499883 - 65499883(1)	intron_variant
rs2104564	chr1:65503747 - 65503747(1)	intron_variant
rs10889556	chr1:65503869 - 65503869(1)	intron_variant
rs4655811	chr1:65457474 - 65457474(1)	intron_variant
rs6588147	chr1:65469811 - 65469811(1)	intron_variant
rs7555955	chr1:65471796 - 65471796(1)	intron_variant
rs2025804	chr1:65480438 - 65480438(1)	intron_variant
rs1046011	chr1:65433313 - 65433313(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant
rs970468	chr1:65440807 - 65440807(1)	downstream_gene_variant; intron_variant
rs9436747	chr1:65445924 - 65445924(1)	intron_variant
rs6657868	chr1:65448024 - 65448024(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
LEPR_hcv518168	point mutation		1 (1/0/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

Reference	Description	Category in MDD	Link in MK4MDD
17353912	Selected differentially expressed genes in hippocampus	Pos	LEPR
17938633	Selected differentially expressed genes in BA44 to BA47 (ANOVA and t-test P < 0.01, fold change 1.3t)	Pos	LEPR

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Region: chr1:65420652..65641559 View in gBrowse