Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	APOE
Previous Symbol	AD2
Approved Name	apolipoprotein E
Previous Name	Alzheimer disease 2 (APOE*E4-associated, late onset)
Location	19q13.31
Position	chr19:44905754-44909393, 1
External Links	HGNC: 613 Entrez Gene: 348 Ensembl: ENSG00000130203 UCSC: uc002pab.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Bellivier, F.,1997	Other variant: APOE_e3/e4	The association between epsilon4 and early onset bipolar disorder (BPD) with psychotic symptoms suggests that APO E gene is a risk factor for a subgroup of BPD, or influences the phenotypic expression (i.e. psychotic symptoms or age at onset) of manic depressive illness.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 138)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005764	lysosome	cellular component	IEA	16
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0031012	extracellular matrix	cellular component	IDA[23658023]	9
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005634	nucleus	cellular component	IDA[21630459]	283

GO terms by database search (count: 133)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0032805	positive regulation of low-density lipoprotein particle receptor catabolic process	biological process	IDA[15950758]	1
GO:0043025	neuronal cell body	cellular component	NAS[8083695]	50
GO:0005874	microtubule	cellular component	IEA	24
GO:0043537	negative regulation of blood vessel endothelial cell migration	biological process	IDA[9685360]	1
GO:0034361	very-low-density lipoprotein particle	cellular component	IDA[17154273]	2
GO:1902947	regulation of tau-protein kinase activity	biological process	IDA[24154541]	1
GO:1901215	negative regulation of neuron death	biological process	IDA[24259049]	6
GO:0006898	receptor-mediated endocytosis	biological process	IDA[1917954]; TAS	12
GO:0005615	extracellular space	cellular component	IDA[16502470]	85
GO:0010468	regulation of gene expression	biological process	IEA	6
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0001937	negative regulation of endothelial cell proliferation	biological process	IDA[9685360]	3
GO:0007263	nitric oxide mediated signal transduction	biological process	IDA[8995232]	5
GO:0042157	lipoprotein metabolic process	biological process	TAS	3
GO:0042632	cholesterol homeostasis	biological process	IDA[9649566]	8
GO:0016209	antioxidant activity	molecular function	IDA[9685360]	1
GO:1901628	positive regulation of postsynaptic membrane organization	biological process	IDA[24259049]	1
GO:1903001	negative regulation of lipid transport across blood brain barrier	biological process	IDA[24345162]	1
GO:0048844	artery morphogenesis	biological process	IEA	6
GO:0005635	nuclear envelope	cellular component	IEA	10
GO:0008203	cholesterol metabolic process	biological process	IDA[9649566]; IMP[3771793]	5
GO:1901630	negative regulation of presynaptic membrane organization	biological process	IDA[24259049]	1
GO:0097113	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering	biological process	IDA[24328732]	1
GO:0034447	very-low-density lipoprotein particle clearance	biological process	IDA[1917954]; IMP[9649566]	1
GO:0002021	response to dietary excess	biological process	IEA	1
GO:0007603	phototransduction, visible light	biological process	TAS	6
GO:0007186	G-protein coupled receptor signaling pathway	biological process	IDA[16443932]	64
GO:0048168	regulation of neuronal synaptic plasticity	biological process	TAS[9622609]	6
GO:0030516	regulation of axon extension	biological process	TAS[9622609]	3
GO:0090370	negative regulation of cholesterol efflux	biological process	IDA[12042316]	1
GO:0034382	chylomicron remnant clearance	biological process	IMP[7175379]	1
GO:0030828	positive regulation of cGMP biosynthetic process	biological process	IDA[8995232]	2
GO:1902998	positive regulation of neurofibrillary tangle assembly	biological process	IDA[24154541]	1
GO:0032868	response to insulin	biological process	IEA	10
GO:0034375	high-density lipoprotein particle remodeling	biological process	IGI[12401887]	2
GO:0045541	negative regulation of cholesterol biosynthetic process	biological process	IDA[1917954]	1
GO:0071682	endocytic vesicle lumen	cellular component	TAS	4
GO:0019934	cGMP-mediated signaling	biological process	IDA[8995232]	2
GO:0007568	aging	biological process	IEA	22
GO:0042158	lipoprotein biosynthetic process	biological process	IEA	2
GO:0010875	positive regulation of cholesterol efflux	biological process	IDA[12042316]; IGI[12401887]	4
GO:0005515	protein binding	molecular function	IPI[12950167]	563
GO:0005737	cytoplasm	cellular component	NAS[8083695]; TAS[9622609]	322
GO:0071347	cellular response to interleukin-1	biological process	IEA	3
GO:0008289	lipid binding	molecular function	IDA[4066713]	8
GO:1902995	positive regulation of phospholipid efflux	biological process	IDA[12042316]	1
GO:0001540	beta-amyloid binding	molecular function	IDA[11305869]	4
GO:0017038	protein import	biological process	IDA[24446231]	1
GO:1900221	regulation of beta-amyloid clearance	biological process	IDA[24446231]	1
GO:0043524	negative regulation of neuron apoptotic process	biological process	IBA	26
GO:0046907	intracellular transport	biological process	TAS[9622609]	2
GO:0006874	cellular calcium ion homeostasis	biological process	IEA	16
GO:0055089	fatty acid homeostasis	biological process	IDA[24345162]	4
GO:0034364	high-density lipoprotein particle	cellular component	IDA[210174]	2
GO:0060228	phosphatidylcholine-sterol O-acyltransferase activator activity	molecular function	IDA[15654758]	1
GO:0017127	cholesterol transporter activity	molecular function	IBA	4
GO:0061000	negative regulation of dendritic spine development	biological process	IDA[24328732]	1
GO:0051000	positive regulation of nitric-oxide synthase activity	biological process	IDA[8995232]	5
GO:0032489	regulation of Cdc42 protein signal transduction	biological process	IDA[16443932]	1
GO:0043407	negative regulation of MAP kinase activity	biological process	IDA[9685360]	4
GO:0001523	retinoid metabolic process	biological process	TAS	5
GO:0019068	virion assembly	biological process	IMP[25122793]	1
GO:0097114	N-methyl-D-aspartate receptor clustering	biological process	IDA[24328732]	3
GO:0071363	cellular response to growth factor stimulus	biological process	IEA	8
GO:1902952	positive regulation of dendritic spine maintenance	biological process	IDA[24328732]	1
GO:0034372	very-low-density lipoprotein particle remodeling	biological process	IDA[15654758]; IGI[12401887]	1
GO:0010873	positive regulation of cholesterol esterification	biological process	IDA[15654758]	3
GO:0033344	cholesterol efflux	biological process	IDA[11162594]	5
GO:0051651	maintenance of location in cell	biological process	IEA	1
GO:0005576	extracellular region	cellular component	TAS	97
GO:0045773	positive regulation of axon extension	biological process	IEA	3
GO:0046911	metal chelating activity	molecular function	IDA[9685360]	1
GO:0005543	phospholipid binding	molecular function	IDA[4066713]	8
GO:0005783	endoplasmic reticulum	cellular component	IDA[25122793]	49
GO:0045471	response to ethanol	biological process	IEA	24
GO:0048709	oligodendrocyte differentiation	biological process	IEA	5
GO:1903002	positive regulation of lipid transport across blood brain barrier	biological process	IDA[24345162]	1
GO:0070326	very-low-density lipoprotein particle receptor binding	molecular function	IDA[1384047]; IPI[12950167]	2
GO:0031982	vesicle	cellular component	IDA[24769233]	20
GO:1902004	positive regulation of beta-amyloid formation	biological process	IDA[24154541]	1
GO:0060999	positive regulation of dendritic spine development	biological process	IDA[24328732]	1
GO:0007271	synaptic transmission, cholinergic	biological process	TAS[9622609]	14
GO:0005794	Golgi apparatus	cellular component	IDA[25122793]	60
GO:0019433	triglyceride catabolic process	biological process	IBA	3
GO:1901631	positive regulation of presynaptic membrane organization	biological process	IDA[24259049]	1
GO:0007010	cytoskeleton organization	biological process	TAS[9622609]	11
GO:0030195	negative regulation of blood coagulation	biological process	IDA[8995232]	2
GO:0014012	peripheral nervous system axon regeneration	biological process	IEA	4
GO:0006707	cholesterol catabolic process	biological process	IBA	2
GO:0008201	heparin binding	molecular function	IDA[2745454]	8
GO:0071397	cellular response to cholesterol	biological process	IEA	3
GO:0050750	low-density lipoprotein particle receptor binding	molecular function	IDA[210175]; IPI[17326667]	3
GO:0072562	blood microparticle	cellular component	IDA[22516433]	8
GO:0005319	lipid transporter activity	molecular function	IDA[17305370]	2
GO:0034362	low-density lipoprotein particle	cellular component	IDA[8245722]	2
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:1901627	negative regulation of postsynaptic membrane organization	biological process	IDA[24259049]	1
GO:0015909	long-chain fatty acid transport	biological process	IDA[24345162]	1
GO:0005769	early endosome	cellular component	TAS	13
GO:1902999	negative regulation of phospholipid efflux	biological process	IDA[12042316]	1
GO:0031232	extrinsic component of external side of plasma membrane	cellular component	IEA	1
GO:0051044	positive regulation of membrane protein ectodomain proteolysis	biological process	IDA[15950758]	5
GO:0033700	phospholipid efflux	biological process	IDA[11162594]	3
GO:0042159	lipoprotein catabolic process	biological process	IBA	2
GO:0071813	lipoprotein particle binding	molecular function	IEA	3
GO:1902430	negative regulation of beta-amyloid formation	biological process	IDA[24154541]	2
GO:0034365	discoidal high-density lipoprotein particle	cellular component	IEA	1
GO:0042627	chylomicron	cellular component	IDA[16935699]	2
GO:0006641	triglyceride metabolic process	biological process	IDA[9649566]; IMP[3771793]	1
GO:1901216	positive regulation of neuron death	biological process	IDA[24259049]	1
GO:0034363	intermediate-density lipoprotein particle	cellular component	IDA[17336988]	2
GO:0051055	negative regulation of lipid biosynthetic process	biological process	IDA[12042316]	2
GO:0015485	cholesterol binding	molecular function	IBA	5
GO:0030425	dendrite	cellular component	NAS[8083695]	65
GO:0046848	hydroxyapatite binding	molecular function	IEA	1
GO:0034374	low-density lipoprotein particle remodeling	biological process	IEA	5
GO:0032526	response to retinoic acid	biological process	IEA	5
GO:0034384	high-density lipoprotein particle clearance	biological process	IDA[210175]	1
GO:0043691	reverse cholesterol transport	biological process	IDA[8127890]	2
GO:0005770	late endosome	cellular component	IEA	4
GO:0031102	neuron projection regeneration	biological process	IBA	3
GO:0000302	response to reactive oxygen species	biological process	NAS[11743999]	5
GO:0042802	identical protein binding	molecular function	IDA[4066713]	44
GO:1902951	negative regulation of dendritic spine maintenance	biological process	IDA[24328732]	1
GO:0048156	tau protein binding	molecular function	IPI[7566652]	3
GO:0034380	high-density lipoprotein particle assembly	biological process	IDA[17305370]	1
GO:1901214	regulation of neuron death	biological process	IDA[24154541]	2
GO:0046889	positive regulation of lipid biosynthetic process	biological process	IDA[12042316]	5
GO:0050728	negative regulation of inflammatory response	biological process	IC[8995232]	6
GO:0042311	vasodilation	biological process	IEA	6
GO:0044794	positive regulation by host of viral process	biological process	IMP[25122793]	1
GO:0010544	negative regulation of platelet activation	biological process	IDA[8995232]	2
GO:0042803	protein homodimerization activity	molecular function	IPI[8245722]	71

Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01510	Neurodegenerative Diseases	10
hsa05010	Alzheimer's disease	4

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 16)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
APOE	CNTF	NO	in vitro	9236223
APOE	MAP2	NO	in vitro	8624078
APOE	VLDLR	NO	in vivo	12167620
APOE	LRP8	YES	in vivo	12167620 , 12950167
APOE	SCARB1	NO	in vitro;in vivo	12138091
APOE	LDLR	NO	in vitro;in vivo	12036962
APOE	LRP1	NO	in vivo	11421580
APOE	NEFM	YES	in vitro	8620924
APOE	ALB	NO	in vitro	8063017
APOE	APP	NO	in vitro	10559559
APOE	CTSB	NO	in vivo	12057992
APOE	LRP2	NO	in vivo	11421580
APOE	MAPT	YES	in vitro;in vivo	9147408 , 7566652 , 9512010
APOE	PLTP	NO	in vitro;in vivo	12810820
APOE	PRNP	NO	in vivo	15146195
APOE	A2M	NO	in vitro;in vivo	9831625

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
APOE_e3/e4	point mutation		1 (1/0/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
19p13-q13	chr19:0-58617616	1 (0/1/0)
Chr 19	chr19:0-58617616	2 (0/2/0)
19q13	chr19:31900000-58617616	2 (0/2/0)

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

Gene relationship with SZ

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

Overlap with SZ from candidate gene intersection analysis (count: 29)

Reference	ID in SZGene	Result Category
17893707	183	Negative
18164902	183	Negative
10087458	183	Positive
13129656	183	Negative
9832216	183	Negative
9270908	183	Negative
8723056	183	Negative
12707932	183	Trend
20964956	183	Negative
8832195	183	Negative
8840393	183	Negative
11104846	183	Negative
9470136	183	Negative
9259385	183	Negative
11326299	183	Negative
10206244	183	Negative
19752580	183	Positive
8787841	183	Positive
12086229	183	Negative
8525796	183	Negative
12837518	183	Positive
9549778	183	Negative
10994644	183	Negative
9172167	183	Negative
9572600	183	Negative
16720801	183	Negative
11748362	183	Positive
9099418	183	Positive
15221639	183	Negative

Gene relationship with MDD

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

Overlap with MDD from candidate gene intersection analysis (count: 2)

Reference	Description	Category in MDD	Link in MK4MDD
19135213	No associations were found between APOE genotypes and measures either of past-year or lifetime MDD	Neg	APOE
12701674	There was no overall association between APOE and depression.	Neg	APOE

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Region: chr19:44905754..44909393 View in gBrowse