Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	LRP8
Symbol Alias	APOER2, MCI1, LRP-8, HSZ75190
Approved Name	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor
Location	1p32.3
Position	chr1:53242364-53328070, -1
External Links	HGNC: 6700 Entrez Gene: 7804 Ensembl: ENSG00000157193 UCSC: uc001cvi.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
Li, M., 2015	SNP: rs5174	P-value=0.0048. LRP8 participates in the highly interconnected network formed by these susceptibility genes, implying that LRP8 is involved in the common molecular network that modulates the risk for psychosis.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 41)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IC[11152697]	219
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005509	calcium ion binding	molecular function	IEA	50
GO:0043235	receptor complex	cellular component	IDA[23382219]	20
GO:0016020	membrane	cellular component	IDA[19946888]	137

GO terms by database search (count: 36)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0071397	cellular response to cholesterol	biological process	IEA	3
GO:0004888	transmembrane signaling receptor activity	molecular function	TAS[8626535]	10
GO:0007603	phototransduction, visible light	biological process	TAS	6
GO:0005576	extracellular region	cellular component	IEA	97
GO:0007596	blood coagulation	biological process	TAS	44
GO:0007165	signal transduction	biological process	TAS[10380922]	136
GO:1900006	positive regulation of dendrite development	biological process	ISS	2
GO:0061003	positive regulation of dendritic spine morphogenesis	biological process	ISS	3
GO:0030424	axon	cellular component	IEA	39
GO:0006898	receptor-mediated endocytosis	biological process	IDA[8626535]	12
GO:0021541	ammon gyrus development	biological process	ISS	1
GO:0032793	positive regulation of CREB transcription factor activity	biological process	ISS	3
GO:0019894	kinesin binding	molecular function	IEA	3
GO:0001523	retinoid metabolic process	biological process	TAS	5
GO:0071363	cellular response to growth factor stimulus	biological process	IEA	8
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	ISS	62
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	biological process	ISS	12
GO:0021819	layer formation in cerebral cortex	biological process	IEA	3
GO:0061098	positive regulation of protein tyrosine kinase activity	biological process	ISS	5
GO:0019221	cytokine-mediated signaling pathway	biological process	NAS[11152697]	23
GO:0030229	very-low-density lipoprotein particle receptor activity	molecular function	IDA[8626535]	1
GO:0006897	endocytosis	biological process	IDA[8626535]	15
GO:0005875	microtubule associated complex	cellular component	IEA	1
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0034185	apolipoprotein binding	molecular function	IC[8626535]	1
GO:0006508	proteolysis	biological process	NAS[11152697]	34
GO:0042493	response to drug	biological process	IEA	57
GO:0008035	high-density lipoprotein particle binding	molecular function	IEA	2
GO:0050804	regulation of synaptic transmission	biological process	ISS	3
GO:0005901	caveola	cellular component	IDA[11369809]	11
GO:0006629	lipid metabolic process	biological process	NAS[11152697]	10
GO:0038026	reelin-mediated signaling pathway	biological process	ISS	2
GO:0038025	reelin receptor activity	molecular function	ISS	1
GO:0005515	protein binding	molecular function	IPI[12950167]	563
GO:0014069	postsynaptic density	cellular component	IEA	26
GO:0030425	dendrite	cellular component	IEA	65

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 2)

BioCarta pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
reelinPathway	Reelin Signaling Pathway	4

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
Lis1Pathway	Lissencephaly gene (LIS1) in neuronal migration and development	3

Gene related interactors from protein-protein interactions data in HPRD (count: 8)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
LRP8	CLU	NO	in vitro;in vivo	12824284
LRP8	SNX17	NO	in vitro;in vivo;yeast 2-hybrid	12169628
LRP8	DAB1	YES	in vivo	10380922
LRP8	LRPAP1	NO	in vivo	12899622
LRP8	RELN	YES	in vivo	10571240 , 12899622 , 12670700 , 12167620
LRP8	GRIN1	YES	in vivo	16332682
LRP8	DLG4	NO	in vivo	16332682
LRP8	APOH	NO	in vivo	12807892

Related other genetic factors

Gene related SNPs (count: 25)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs5174	chr1:53247055 - 53247055(1)	3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant; splice_region_variant	1(1/0/0)

LD-proxies (count: 24)

rs_ID	Location	Functional Annotation
rs2297657	chr1:53280923 - 53280923(1)	intron_variant; NMD_transcript_variant
rs11206134	chr1:53280031 - 53280031(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs1288518	chr1:53280462 - 53280462(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant
rs11206132	chr1:53273513 - 53273513(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs6696068	chr1:53275125 - 53275125(1)	intron_variant; NMD_transcript_variant
rs7349164	chr1:53269842 - 53269842(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs7542607	chr1:53270941 - 53270941(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs17378205	chr1:53268366 - 53268366(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant
rs10888778	chr1:53269774 - 53269774(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant
rs11206128	chr1:53266100 - 53266100(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs2297660	chr1:53266643 - 53266643(1)	3_prime_UTR_variant; 5_prime_UTR_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant
rs7526226	chr1:53265347 - 53265347(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs7528745	chr1:53265593 - 53265593(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs869988	chr1:53257677 - 53257677(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs6668172	chr1:53263538 - 53263538(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs869987	chr1:53257518 - 53257518(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs2297663	chr1:53257080 - 53257080(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs10749689	chr1:53256192 - 53256192(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3737983	chr1:53250744 - 53250744(1)	3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant; synonymous_variant
rs12031155	chr1:53248467 - 53248467(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs11206127	chr1:53247877 - 53247877(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs5177	chr1:53246063 - 53246063(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant
rs3737984	chr1:53243178 - 53243178(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs17785382	chr1:53242281 - 53242281(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
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

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
15303102	Genes altered in major depressive disorder	Pos	LRP8

View in gBrowse

Region: chr1:53242364..53328070 View in gBrowse