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APOE Gene

protein-coding GIFtS: 71

GC19P050100

apolipoprotein E
(Previous names: Alzheimer disease 2 (APOE*E4-associated, late onset) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: AD2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
AD2 ^², ⁵
Apo-E ^³
LDLCQ5 ^², ⁵
LPG ^², ⁵
MGC1571 ^²

Descriptions
Alzheimer disease 2 (APOE*E4-associated, late onset) ^¹
apolipoprotein E ^²
apolipoprotein E3 ^²

External Ids
HGNC: 613¹
Entrez Gene: 348²
UniProtKB: P02649³
Ensembl: ENSG00000130203⁷

Search outside databases for aliases for APOE gene

Previous GC identifers: GC19P046053 GC19P045799 GC19P050085

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for APOE:

Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the

circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of

the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is

essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene

is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E result

in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased

plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and

VLDL remnants. [provided by RefSeq]

UniProtKB/Swiss-Prot: APOE_HUMAN, P02649

Function: Mediates the binding, internalization, and catabolism of lipoprotein particles. It can

serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron

remnant) of hepatic tissues

Gene Wiki entry for APOE (Apolipoprotein_E)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the APOE gene

Entrez Gene cytogenetic band: 19q13.2 Ensembl cytogenetic band: 19q13.32 HGNC cytogenetic band: 19q13.31

APOE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P050100: (about GC identifiers)

Start:	50,100,879 bp from pter
End:	50,104,490 bp from pter
Size:	3,612 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000019.8 NT_011109.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: APOE_HUMAN, P02649 (See protein sequence)

Recommended Name: Apolipoprotein E precursor

Size: 317 amino acids; 36154 Da

Subcellular location: Secreted

PDB structures from and Proteopedia :

1B68 (3D)

1BZ4 (3D)

1EA8 (3D)

1GS9 (3D)

1H7I (3D)

1LE2 (3D)

1LE4 (3D)

1LPE (3D)

1NFN (3D)

1NFO (3D)

1OEF (3D)

1OEG (3D)

1OR2 (3D)

1OR3 (3D)

2KC3 (3D)

Secondary accessions: B2RC15 Q9P2S4

Post-translational modifications:

Synthesized with the sialic acid attached by O-glycosidic linkage and is subsequently desialylated

in plasma¹

Glycated in plasma VLDL of normal subjects, and of hyperglycemic diabetic patients at a higher

level (2-3 fold)¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000032.1

ENSEMBL proteins:

ENSP00000252486

Human Recombinant Proteins

	Invitrogen human recombinant proteins for APOE
	Millipore Purified and/or Recombinant APOE Protein
	Sigma-Aldrich Proteins for APOE
	R&D Systems Recombinant & Natural Proteins for APOE (Apolipoprotein E3/ApoE3)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ApoE2, Apolipoprotein EIII, VLDL, Apolipoprotein E4, Apolipoprotein E )
	Browse Abnova for Human Recombinant Proteins

OriGene Purified Recombinant Human Protein: APOE

5/13 Gene Ontology (GO) cellular component terms (links to tree view) (see all 13 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005615	extracellular space	IEA	--
GO:0005737	cytoplasm	TAS	9622609
GO:0005794	Golgi apparatus	IEA	--
GO:0005886	plasma membrane	EXP	8300609

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Antibodies for APOE:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of APOE
	Sigma-Aldrich Antibodies for APOE
	R&D Systems Antibodies for APOE (Apolipoprotein E/ApoE)
	Antibodies from Abcam (ApoE2, Apolipoprotein EIII, VLDL, Apolipoprotein E4, Apolipoprotein E ), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (APOE)
	Novus Biologicals Antibodies for APOE

Assays for APOE:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P02649

ProtoNet protein and cluster: P02649

1 Blocks protein family: IPB000074 Apolipoprotein A1/A4/E

UniProtKB/Swiss-Prot: APOE_HUMAN, P02649

Similarity: Belongs to the apolipoprotein A1/A4/E family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (APOE)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000041

Applied Biosystems Silencer® siRNAs for APOE

Sigma-Aldrich siRNA and siRNA Panels for APOE

Sigma-Aldrich shRNA Panels and shRNA for APOE

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for APOE
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000041
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000041
untagged cDNA clone in CMV expression vector: NM_000041

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000041

UniProtKB/Swiss-Prot: APOE_HUMAN, P02649

Function: Mediates the binding, internalization, and catabolism of lipoprotein particles. It can

serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron

remnant) of hepatic tissues

Genatlas biochemistry entry for APOE:

apolipoprotein E,component of VLDL and ApoE receptors,putative susceptibility factor (epsilon 4

allele) for agressive multiple sclerosis and for early-onset coronary heart disease

15/26 MGI mutant phenotypes (inferred from 13 alleles) (MGI details for Apoe) (see all 26 ):

	adipose tissue	behavior/neurological	cellular	digestive/alimentary
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism
immune system	life span-post-weaning/aging	limbs/digits/tail	liver/biliary system	muscle

5/12 Gene Ontology (GO) molecular function terms (links to tree view) (see all 12 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001540	beta-amyloid binding	IDA	11305869
GO:0005543	phospholipid binding	IDA	4066713
GO:0008034	lipoprotein binding	IEA	--
GO:0008201	heparin binding	IEA	--
GO:0016209	antioxidant activity	IDA	9685360

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

4 Sigma-Aldrich "Your Favorite Gene" Pathways for APOE (Your Favorite Gene powered by Ingenuity)

LXR/RXR Activation
LPS/IL-1 Mediated Inhibition of RXR Function
FXR/RXR Activation
Reelin Signaling in Neurons

GeneDecks APOE for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for APOE

5/110 Interacting proteins for APOE (ENSP00000252486³) via UniProtKB, MINT, and/or STRING (see all 110 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SEPP1	ENSP00000373479³	STRING (score=.845)
LDLR	ENSP00000252444³	STRING (score=.999)
LPL	ENSP00000309757³	STRING (score=.999)
APP	ENSP00000284981³	STRING (score=.998)
LRP8	ENSP00000303634³	STRING (score=.998)

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5/44 Gene Ontology (GO) biological process terms (links to tree view) (see all 44 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000302	response to reactive oxygen species	NAS	11743999
GO:0001937	negative regulation of endothelial cell proliferation	IDA	9685360
GO:0002021	response to dietary excess	IEA	--
GO:0006629	lipid metabolic process	IEA	--
GO:0006641	triglyceride metabolic process	IMP	3771793

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for APOE
10/18 Novoseek chemical compound relationships for APOE gene (see all 18 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cholesterol	88.63	2090	9541497 (7), 11369802 (7), 10484608 (7), 16185081 (7) (see all 99)
lipid	82.16	1443	15264189 (6), 16295048 (5), 10693931 (5), 15487712 (5) (see all 99)
24s-hydroxy-cholesterol	67.04	24	15975088 (4), 17822846 (4), 16524875 (3), 12707064 (2) (see all 10)
xbai	59.82	34	9298741 (2), 16699281 (2), 15543563 (2), 8013886 (2) (see all 23)
cholesterol ester	58.16	32	8420942 (3), 10870678 (3), 15955471 (2), 12919138 (2) (see all 16)
phospholipid	53.68	136	1730636 (4), 8908157 (4), 19159618 (3), 1540589 (3) (see all 71)
lathosterol	52.16	5	8548414 (1), 11726725 (1), 15331430 (1), 1865824 (1)
dimyristoylphosphatidylcholine	51.88	33	12633731 (3), 10751422 (2), 12364553 (2), 2026270 (1) (see all 11)
homocysteine	50.27	95	17764386 (6), 17243563 (3), 18023533 (2), 17420762 (2) (see all 41)
sterol	49.60	74	10760464 (5), 16254198 (5), 11893773 (5), 11742879 (5) (see all 26)

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10/10 PharmGKB drug compound relationships for APOE gene (see all 10 )

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
choline	PD	8618881
donepezil	PD	12142731
estrogens	PD GN	10430787
fenofibrate	PD	12042669
gemfibrozil	PD GN	96192469
pravastatin	PD GN	95329110
rivastigmine	PD GN	15289797
simvastatin	CO PD FA GN	11947894 20202156
statin	PD GN	15530894
tacrine	CO PD GN	9777427 98180550

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Browse Invitrogen for RNAi
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (APOE)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000041

Sigma-Aldrich siRNA and siRNA Panels for APOE

Sigma-Aldrich shRNA Panels and shRNA for APOE

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000041

REFSEQ mRNAs for APOE gene:

NM_000041.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000041

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000041
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000041
                                 untagged cDNA clone in CMV expression vector: NM_000041

Additional cDNA sequence:

AK308546.1 AK314898.1 BC003557.1 K00396.1 M12529.1 X00199.1 Z70760.1

23 DOTS entries:

DT.100888329 DT.451248 DT.40133697 DT.97779727 DT.100888334 DT.100888336 DT.97792321 DT.91981242

DT.92463553 DT.100888335 DT.92463568 DT.92463567 DT.100888341 DT.121427095 DT.92463546 DT.95136093

DT.95136111 DT.100045379 DT.100879799 DT.100888330 DT.121121638 DT.92015941 DT.95136088

24/1484 AceView cDNA sequences (see all 1484 ):

AI357255 AI289184 BE223032 BF196798 AW024356 CB157579 AI819172 AI983585

AW026372 BC009698 AI359572 CB055074 BQ006785 AI359665 CA307655 BE672007

BF940051 AW005896 CB163670 CA307890 AI126876 AI096741 BQ651295 AI361165

highest scoring ESTs for APOE:

AV647676 BE048819 BQ680740 R29150 M12529 AA547943 AA862728 AA863156 AA931481 AI284420

Unigene Cluster for APOE:

Apolipoprotein E

Hs.654439 [show with all ESTs]

Unigene Representative Sequence: BQ683419

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for APOE

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	·	4c	·	4d
SP1:							-		-		-
SP2:							-		-
SP3:									-		-
SP4:

About this scheme

ECgene alternative splicing isoforms for APOE

1 Ensembl transcript including schematic representation:

ENST00000252486

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

APOE expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for APOE

¹ / ² / ³

7 probe-sets matching APOE gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
608_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	M12529	0.80	0.80	0.80	1
203382_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000041	0.40	0.67	0.55	1
203381_s_at²^{, 3}	U133-A	2	1.00	0.64	--	--	N33009	0.40	0.67	0.55	1
212884_x_at²^{, 3}	U133-A	1	0.64	1.00	--	--	AI358867	0.60	0.75	0.68	1
203382_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203381_s_at²	U133Plus2	2	1.00	0.64	--	--	--	--	--	--	--
212884_x_at²	U133Plus2	1	0.64	1.00	--	--	--	--	--	--	--

GeneDecks APOE for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CGACCCCACG

SOURCE GeneReport for Unigene cluster: Hs.654439
Expression variation in blood from EXPOLDB for APOE
UniProtKB/Swiss-Prot: APOE_HUMAN, P02649
Tissue specificity: Occurs in all lipoprotein fractions in plasma. It constitutes 10-20% of very
low density lipoproteins (VLDL) and 1-2% of high density lipoproteins (HDL). APOE is produced in
most organs. Significant quantities are produced in liver, brain, spleen, lung, adrenal, ovary,
kidney and muscle

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for APOE gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	APOE¹	--	apolipoprotein E	82.85(n) 71.25(a)	476438 XM_533644.2 XP_533644.1
chimpanzee (Pan troglodytes)	APOE¹	--	apolipoprotein E	98.42(n) 97.16(a)	449586 NM_001009007.1 NP_001009007.1
cow (Bos taurus)	APOE¹	--	apolipoprotein E	81.75(n) 72.15(a)	281004 NM_173991.2 NP_776416.1
rat (Rattus norvegicus)	Apoe¹	--	apolipoprotein E	77.74(n) 71.34(a)	25728 NM_138828.1 NP_620183.1
mouse (Mus musculus)	Apoe^{1, 5}	7 (4.00 cM)⁵	apolipoprotein E^{1, 5}	78.68(n)¹ 73.7(a)¹	11816¹ NM_009696.2¹ NP_033826.1¹ AA048604⁵ AI255918⁵ (see all 28)

About this table Species with no ortholog for APOE

ENSEMBL Gene Tree for APOE

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: APOE_HUMAN, P02649

Polymorphism: Three common APOE alleles have been identified: APOE*2, APOE*3, and APOE*4. The

corresponding three major isoforms, E2, E3, and E4, are recognized according to their relative

position after isoelectric focusing. Different mutations causing the same migration pattern after

isoelectric focusing define different isoform subtypes. The most common isoform is E3 and is

present in 40-90% of the population. Common APOE variants influence lipoprotein metabolism in

healthy individuals

10/36 NCBI SNPs in APOE are shown (see all 36 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 35)

AB	SNP ID	Valid	Chr 19 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs405509^1,2	A,C,F,H	50100676(-)	`GTAATC/ACAGAC`	1	--	ng5¹		15		NA EU CSAM EA WA	1275
--	rs449647^1,2	A,C,F	50100404(-)	`aggagT/Attgag`	1	--	ng5¹		4		NA EU CSAM	192
	rs7259620^1,2	A,C	50099628(+)	`CATTCA/GTCTTG`	1	--	ng5¹		0	--	--	--	--
	rs769452^1,2	C,F	50102950(+)	`GGAACT/CGGCAC`	1	P/L	mis¹		5		NA EU CSAM MN	376
--	rs769446^1,2	C,F	50100468(+)	`TGAGCT/CACCGC`	1	--	ng5¹		4		NA EU CSAM	192
--	rs439382^1,2	C	50100315(-)	`aatccT/Cagcta`	1	--	ng5¹		4		NA EU CSAM	192
	rs434132^1,2	F	50099560(-)	`GGGTGG/CGATCA`	1	--	ng5¹		3		EA NA	44
--	rs769450^1,2	C,F	50102284(+)	`tGGGAG/ATTAGA`	1	--	int¹		5		NA EU CSAM	2030
--	rs440446^1,2	C,F	50101007(+)	`GGGAAG/CCCCTG`	1	--	int¹		10		NA EU CSAM MN EA	2457
	rs877973^1,2	C,F	50101123(-)	`GGGTCG/TTCTCT`	1	--	int¹		11		NA EA MN CSAM	556

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HapMap Linkage Disequilibrium images for APOE (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 107741

UniProtKB/Swiss-Prot: APOE_HUMAN, P02649

Defects in APOE are a cause of hyperlipoproteinemia type III [MIM:107741]; also known as

familial dysbetalipoproteinemia. Individuals with hyperlipoproteinemia type III, are clinically

characterized by xanthomas, yellowish lipid deposits in the palmar crease, or less specific on

tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it

is usually expressed only after the menopause. The vast majority of the patients are homozygous

for APOE*2 alleles. More severe cases of hyperlipoproteinemia type III have also been observed in

individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often

suggested to have major implications for the risk of coronary artery disease (CAD). Individuals

carrying the common APOE*4 variant are at higher risk of CAD

The APOE*4 allele is associated with late onset Alzheimer disease 2 (AD2) [MIM:104310].

The APOE*4 allele is genetically associated with the common late onset familial and sporadic forms

of Alzheimer disease (AD). Risk for AD increased from 20% to 90% and mean age at onset decreased

from 84 to 68 years with increasing number of APOE*4 alleles in 42 families with late onset AD.

Thus APOE*4 gene dose is a major risk factor for late onset AD and, in these families,

homozygosity for APOE*4 was virtually sufficient to cause AD by age 80. The mechanism by which

APOE*4 participates in pathogenesis is not known

Defects in APOE are a cause of sea-blue histiocyte disease [MIM:269600]; also called

sea-blue histiocytosis. This disorder is characterized by splenomegaly, mild thrombocytopenia and,

in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue

with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic

defect analogous to Gaucher disease and other sphingolipidoses

Defects in APOE are a cause of lipoprotein glomerulopathy (LPG) [MIM:611771]. LPG is an

uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive

lipoprotein thrombi in glomerular capillaries. It mainly affects people of Japanese and Chinese

origin. The disorder has rarely been described in Caucasians

10/94 Novoseek disease relationships for APOE gene (see all 94 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
alzheimers disease	94.93	2452	14757857 (6), 9831633 (5), 11071064 (5), 9468467 (5) (see all 99)
hyperlipoproteinemia type iii	90.04	89	8175773 (4), 1730728 (3), 8185134 (3), 7772063 (3) (see all 55)
late onset alzheimer disease	88.50	50	8971103 (4), 7970184 (2), 8086986 (1), 8648331 (1) (see all 32)
dementia	86.18	631	9678314 (6), 12634288 (5), 9074395 (5), 17296843 (4) (see all 99)
senile plaques	85.71	252	9100668 (4), 11325345 (4), 7615568 (3), 10487843 (3) (see all 99)
cerebral amyloid angiopathy	82.75	66	8571412 (2), 15654038 (2), 18755411 (2), 17322072 (2) (see all 42)
neurofibrillary tangles	82.26	127	10487843 (3), 9018389 (3), 9258912 (2), 2029618 (2) (see all 83)
atherosclerosis	80.42	503	11369802 (5), 11007687 (5), 7593602 (5), 10933930 (5) (see all 99)
dementia vascular	77.93	91	8848934 (3), 8786847 (3), 9147873 (3), 15084782 (2) (see all 53)
amyloid deposition	70.62	54	17342413 (2), 8596645 (2), 11193807 (2), 11553297 (2) (see all 34)

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8 PharmGKB disease relationships for APOE gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Alzheimer Disease	CO PD GN	9777427 98180550 9508150 15289797
Alzheimer dementia	PD	12142731
Alzheimer's dementia	PD	8618881
Arteriosclerosis	FA	11947894
Coronary Arteriosclerosis	CO PD GN	20202156
Diabetes Mellitus, Non-Insulin-Dependent	GN	1999275
Hypercholesterolemia	PD GN	15530894
Hyperlipidemia	PD	12042669

About this table

Human Gene Mutation Database: APOE
Genetic Association Database: APOE
Human Genome Epidemiology Navigator: APOE (2110 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/4212 PubMed articles for APOE gene (see all 4212 ):

Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]. (PubMed id 11095479)^{1, 3, 4, 6} Nguyen T.T.... O'Brien T. (2000)
Presence or absence of at least one epsilon 4 allele and gender are not predictive for the response to donepezil treatment in Alzheimer's disease. (PubMed id 12142731)^{1, 3, 7} Rigaud A.S....Forette F. (2002)
Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients. (PubMed id 12042669)^{3, 6, 7} Brisson D....Gaudet D. (2002)
Analysis of association at single nucleotide polymorphisms in the APOE region. (PubMed id 10662539)^{2, 3, 6} Martin E.R....Vance J.M. (2000)
Frequency and effects of apolipoprotein E polymorphism in Mexican-American NIDDM subjects. (PubMed id 1999275)^{1, 6, 7} Shriver M.D....Hanis C.L. (1991)
Variation at the APOE -491 promoter locus is associated with altered brain levels of apolipoprotein E. (PubMed id 12232782)^{1, 3, 6} Laws S.M....Martins R.N. (2002)
APOE and APOC1 promoter polymorphisms and the risk of Alzheimer disease in African American and Caribbean Hispanic individuals. (PubMed id 15364690)^{1, 3, 6} Tycko B....Mayeux R. (2004)
Modeling the influence of APOC3, APOE, and TNF polymorphisms on the risk of antiretroviral therapy-associated lipid disorders. (PubMed id 15809899)^{1, 3, 6} Tarr P.E....Telenti A. (2005)
Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators. (PubMed id 15165699)^{1, 3, 6} Borroni B....Padovani A. (2004)
Lp(a) and apoE polymorphisms in young South African Indians with myocardial infarction. (PubMed id 15258620)^{1, 3, 6} Ranjith N....Naidoo D.P. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 348	HGNC: 613	AceView: APOEandAPOC1	Ensembl:ENSG00000130203	euGenes: HUgn348
ECgene: APOE	H-InvDB: APOE

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for APOE	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=APOE
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOE
Wikipedia	http://en.wikipedia.org/wiki/Apolipoprotein_E
Protein Spotlight	http://www.expasy.org/spotlight/back_issues/sptlt083.shtml

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Enzo Life Sciences, and/or Tocris Bioscience)
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Products for APOE:

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APOE Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for APOE

Summaries
for APOE

Genomic Location
for APOE

Proteins
for APOE

Protein Domains/
Families
for APOE

Gene Function
for APOE

Pathways & Interactions
for APOE

Drugs & Compounds
for APOE

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

APOE Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor APOE

Summariesfor APOE

Genomic Locationfor APOE

Proteinsfor APOE

Protein Domains/Familiesfor APOE

Gene Functionfor APOE

Pathways & Interactionsfor APOE

Drugs & Compoundsfor APOE

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Expression for APOE

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Medical Newsfor APOE

Publicationsfor APOE

Search for APOE

Genome Databases showing APOE

Other Databases showing APOE

Specialized Databases showing APOE

Licensable Technologiesfor APOE

Servicesfor APOE

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for APOE

Summaries
for APOE

Genomic Location
for APOE

Proteins
for APOE

Protein Domains/
Families
for APOE

Gene Function
for APOE

Pathways & Interactions
for APOE

Drugs & Compounds
for APOE

Transcripts
for APOE

Expression
for APOE

Orthologs
for APOE

Paralogs
for APOE

SNPs/Variants
for APOE

Disorders & Mutations
for APOE

Medical News
for APOE

Publications
for APOE

Licensable Technologies
for APOE

Services
for APOE